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 COSMIC_COMPARISON(ALL_TRANSCRIPTS) OMIM_COMPARISON(ALL_TRANSCRIPTS) Transcript CALLED_CLASSIFICATION PROT_STRING PROT_STRING_SHORT PFAM_DOMAIN Comments A2M 2 genome.wustl.edu 36 12 9116623 9116623 + Missense_Mutation SNP A A G Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W A A A G A A Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_000014 Missense p.F1290L p.F1290L A2M 2 genome.wustl.edu 36 12 9150104 9150104 + Missense_Mutation SNP C C G Unknown Unknown TCGA-02-0024-01B-01W TCGA-02-0024-10A-01W C C C G C C Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_000014 Missense p.G367R p.G367R ABCA3 21 genome.wustl.edu 36 16 2290056 2290056 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0043-01A-01W TCGA-02-0043-10A-01W G G A G G G Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_001089 Missense p.A521V p.A521V ABCC4 10257 broad.mit.edu 36 13 94484895 94484895 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C T T C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_005845 Missense p.A1279T p.A1279T ABCC4 10257 broad.mit.edu 36 13 94613377 94613377 + Missense_Mutation SNP C C G Unknown Unknown TCGA-02-0037-01A-01W TCGA-02-0037-10A-01W C C C G C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_005845 Missense p.G770R p.G770R ABC_membrane:ABC_tran ADAM12 8038 genome.wustl.edu 36 10 128009005 128009005 + Missense_Mutation SNP T C T Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W T T C C T T Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_003474 Missense p.D51G p.D51G Pep_M12B_propep ADAM15 8751 hgsc.bcm.edu 36 1 153299877 153299877 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Somatic Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_207197 Missense p.G741D p.G741D ADAMTSL3 57188 hgsc.bcm.edu 36 15 82233332 82233332 + Nonsense_Mutation SNP G A G Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W G G G A G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_207517 Nonsense p.W81* p.W81* TSP_1 ADAMTSL3 57188 hgsc.bcm.edu 36 15 82481336 82481336 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_207517 Missense p.D1482N p.D1482N TSP_1 AIFM1 9131 genome.wustl.edu 36 X 129111203 129111203 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W C C C T C C Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_004208 Missense p.D91N p.D91N ANXA1 301 hgsc.bcm.edu 36 9 74974800 74974800 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W G G G A G G Somatic Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_000700 Missense p.G333E p.G333E Annexin ANXA7 310 broad.mit.edu 36 10 74826987 74826987 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_004034 Missense p.G104E p.G104E APBB1IP 54518 broad.mit.edu 36 10 26865111 26865111 + Missense_Mutation SNP C C T Unknown Unknown TCGA-06-0154-01A-02W TCGA-06-0154-10A-01W C C C T C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_019043 Missense p.R335W p.R335W PH ARNT 405 genome.wustl.edu 36 1 149055490 149055490 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G A G G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_001668 Missense p.P607S p.P607S ASPM 259266 broad.mit.edu 36 1 195340175 195340175 + Missense_Mutation SNP A A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W A A A G A A Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_018136 Missense p.V1610A p.V1610A IQ ASPM 259266 broad.mit.edu 36 1 195365053 195365053 + Missense_Mutation SNP A A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W A A G A A A Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_018136 Missense p.S883P p.S883P ATM 472 broad.mit.edu 36 11 107611687 107611687 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W G G G A G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000051 Missense p.G138R p.G138R ATM 472 broad.mit.edu 36 11 107620796 107620796 + Missense_Mutation SNP T C T Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W T T C T T T Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000051 Missense p.V245A p.V245A ATP6V1E1 529 broad.mit.edu 36 22 16455484 16455484 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_001696 Missense p.G213R p.G213R vATP-synt_E ATR 545 broad.mit.edu 36 3 143659194 143659194 + Nonsense_Mutation SNP G A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W G G G A G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_001184 Nonsense p.R2533* p.R2533* AURKB 9212 broad.mit.edu 36 17 8051651 8051651 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W C C C T C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_004217 Missense p.V57M p.V57M AVIL 10677 broad.mit.edu 36 12 56482213 56482213 + Nonsense_Mutation SNP C C T Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W C C C T C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_006576 Nonsense p.W716* p.W716* AXL 558 genome.wustl.edu 36 19 46435815 46435815 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_021913 Missense p.P304S p.P304S fn3 BAI3 577 genome.wustl.edu 36 6 69760544 69760544 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W C C C T C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_001704 Missense p.A633V p.A633V BAI3 577 genome.wustl.edu 36 6 70149531 70149531 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_001704 Missense p.P1455S p.P1455S BAMBI 25805 genome.wustl.edu 36 10 29011215 29011215 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G A G G G Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_012342 Missense p.G221E p.G221E BAX 581 genome.wustl.edu 36 19 54150026 54150026 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0055-01A-01W TCGA-02-0055-10A-01W G G Unknown Unknown Unknown Unknown Valid Unknown Somatic Novel: Amino Acid Novel: Amino Acid NM_004324 Missense p.G10D p.G10D BCAR1 9564 hgsc.bcm.edu 36 16 73821184 73821184 + Missense_Mutation SNP G A G Unknown Unknown TCGA-06-0176-01A-02W TCGA-06-0176-10A-01W G G G A G G Wildtype Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_014567 Missense p.A780V p.A780V Validated_Somatic_Wildtype_Verification BCAR1 9564 hgsc.bcm.edu 36 16 73821401 73821401 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0099-01A-01W TCGA-02-0099-10A-01W C C C T C C Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_014567 Missense p.E708K p.E708K BCL11A 53335 broad.mit.edu 36 2 60541333 60541333 + Missense_Mutation SNP G A A Unknown Unknown TCGA-06-0176-01A-02W TCGA-06-0176-10A-01W G G G A G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_022893 Missense p.R740C p.R740C zf-C2H2 BCL11A 53335 broad.mit.edu 36 2 60542011 60542011 + Missense_Mutation SNP C C T Unknown Unknown TCGA-06-0133-01A-02W TCGA-06-0133-10A-01W C C T C C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_022893 Missense p.G514S p.G514S zf-C2H2 BCL11A 53335 broad.mit.edu 36 2 60542638 60542638 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_022893 Missense p.P305S p.P305S BCL11A 53335 broad.mit.edu 36 2 60542986 60542986 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W C C T C C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_022893 Missense p.A189T p.A189T BCL2 596 genome.wustl.edu 36 18 59136627 59136627 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0089-01A-01W TCGA-02-0089-10A-01W C C Unknown Unknown Unknown Unknown Valid Unknown Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_000633 Missense p.A85T p.A85T BCL2L13 23786 hgsc.bcm.edu 36 22 16590158 16590158 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_015367 Missense p.G439D p.G439D BCR 613 genome.wustl.edu 36 22 21853559 21853559 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G Unknown Unknown Unknown Unknown Valid Unknown Somatic Novel: Amino Acid Novel: Amino Acid NM_004327 Missense p.A138T p.A138T BCR 613 genome.wustl.edu 36 22 21926057 21926057 + Missense_Mutation SNP G A A Unknown Unknown TCGA-02-0102-01A-01W TCGA-02-0102-10A-01W G G A A G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_004327 Missense p.D451N p.D451N BRCA2 675 broad.mit.edu 36 13 31788650 31788650 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W G G A G G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000059 Missense p.R18H p.R18H BRCA2 675 broad.mit.edu 36 13 31809250 31809250 + Missense_Mutation SNP C C T Unknown Unknown TCGA-06-0169-01A-01W TCGA-06-0169-10A-01W C C C T C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000059 Missense p.P920S p.P920S BRCA2 675 broad.mit.edu 36 13 31809542 31809542 + Missense_Mutation SNP T G T Unknown Unknown TCGA-02-0014-01A-01W TCGA-02-0014-10A-01W T T G T T T Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000059 Missense p.I1017S p.I1017S BRCA2 C18orf25 147339 genome.wustl.edu 36 18 42074101 42074101 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0099-01A-01W TCGA-02-0099-10A-01W G G A G G G Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid ENST00000282059 Missense p.G283E p.G283E CASP9 842 hgsc.bcm.edu 36 1 15717209 15717209 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_001229 Missense p.G134E p.G134E CAST 831 broad.mit.edu 36 5 96112135 96112135 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0043-01A-01W TCGA-02-0043-10A-01W C C T C C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_173060 Missense p.A401V p.A401V CBL 867 broad.mit.edu 36 11 118654485 118654485 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C T C C C Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_005188 Missense p.P428L p.P428L CBL 867 broad.mit.edu 36 11 118661372 118661372 + Nonsense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_005188 Nonsense p.W609* p.W609* CD46 4179 hgsc.bcm.edu 36 1 206025059 206025059 + Missense_Mutation SNP A A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W A A A G A A Somatic Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_172359 Missense p.I350V p.I350V CDC123 8872 broad.mit.edu 36 10 12331616 12331616 + Missense_Mutation SNP G A G Unknown Unknown TCGA-06-0141-01A-01W TCGA-06-0141-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid ENST00000281141 Missense p.E293K p.E293K D123 CDKN2A 1029 genome.wustl.edu 36 9 21961053 21961053 + Missense_Mutation SNP G A A Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W G G G A G G Valid Valid Somatic Position Match: Amino Acid Novel: Amino Acid NM_000077 Missense p.A102V p.A102V Ank CDKN2A 1029 genome.wustl.edu 36 9 21961124 21961125 + Frame_Shift_Del Del GA - 0 Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W GA GA Unknown Unknown Unknown Unknown Valid Unknown Somatic Position Match: Amino Acid Novel: Amino Acid NM_058195 Frame_Shift_Del p.H134delPDPCTTLPGRASWTRWWCCTGPGRGWTCAMPGAVCPWTWL p.H134fs CDKN2A 1029 hgsc.bcm.edu 36 9 21961127 21961128 + Frame_Shift_Del Del AG AG - Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W AG AG AG - AG AG Unknown Valid Somatic Position Match: Amino Acid Novel: Amino Acid NM_058195 Frame_Shift_Del p.H134delPDPCTTLPGRASWTRWWCCTGPGRGWTCAMPGAVCPWTWL p.H134fs CDKN2A 1029 genome.wustl.edu 36 9 21964782 21964782 + Nonsense_Mutation SNP C T T Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W C C C T C C Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_000077 Nonsense p.W15* p.W15* CENPF 1063 genome.wustl.edu 36 1 212853776 212853776 + Missense_Mutation SNP A A G Unknown Unknown TCGA-02-0055-01A-01W TCGA-02-0055-10A-01W A A A G A A Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_016343 Missense p.K19R p.K19R CENPF 1063 genome.wustl.edu 36 1 212888794 212888794 + Splice_Site_SNP SNP G A G Unknown Unknown TCGA-02-0099-01A-01W TCGA-02-0099-10A-01W G G A G G G Valid Valid Somatic Novel: No Cosmic File Unknown NM_016343 Splice_Site e13+1 e13+1 CENTG1 116986 hgsc.bcm.edu 36 12 56407992 56407992 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0014-01A-01W TCGA-02-0014-10A-01W C C C T C C Somatic Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid ENST00000328568 Missense p.V921I p.V921I CENTG1 116986 hgsc.bcm.edu 36 12 56408033 56408033 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0043-01A-01W TCGA-02-0043-10A-01W C C C T C C Somatic Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid ENST00000328568 Missense p.S907N p.S907N PH CES3 23491 genome.wustl.edu 36 16 65554895 65554895 + Missense_Mutation SNP G A G Unknown Unknown TCGA-06-0139-01A-01W TCGA-06-0139-10A-01W G G G A G G Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_024922 Missense p.M96I c.288 CES3 23491 genome.wustl.edu 36 16 65555760 65555760 + Splice_Site_SNP SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G G A G G Valid Valid Somatic Novel: No Cosmic File Unknown NM_024922 Splice_Site e5-1 c.561-1 CHAT 1103 hgsc.bcm.edu 36 10 50497778 50497778 + Missense_Mutation SNP G A A Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_020549 Missense p.G130E p.G130E Carn_acyltransf CHAT 1103 hgsc.bcm.edu 36 10 50505694 50505694 + Missense_Mutation SNP G A G Unknown Unknown TCGA-06-0125-01A-01W TCGA-06-0125-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_020549 Missense p.R323H p.R323H Carn_acyltransf CHD5 26038 genome.wustl.edu 36 1 6112865 6112865 + Missense_Mutation SNP G A G Unknown Unknown TCGA-06-0189-01A-01W TCGA-06-0189-10A-01W G G G A G G Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid ENST00000262450 Missense p.H1125Y p.H1125Y Helicase_C CHEK1 1111 hgsc.bcm.edu 36 11 125008322 125008322 + Missense_Mutation SNP G G A Unknown Unknown TCGA-06-0145-01A-02W TCGA-06-0145-10A-01W G G G A G G Somatic Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_001274 Missense p.R160H p.R160H Pkinase CHEK1 1111 hgsc.bcm.edu 36 11 125028953 125028953 + Splice_Site_SNP SNP G A G Unknown Unknown TCGA-02-0043-01A-01W TCGA-02-0043-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic Nucleotide Unknown NM_001274 Splice_Site e11+1 e11+1 CHL1 10752 broad.mit.edu 36 3 366197 366197 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W C C T C C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_006614 Missense p.A335V p.A335V I-set CNTFR 1271 hgsc.bcm.edu 36 9 34542713 34542713 + Missense_Mutation SNP G A A Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Somatic Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_001842 Missense p.T303I p.T303I COL1A1 1277 hgsc.bcm.edu 36 17 45619111 45619111 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0043-01A-01W TCGA-02-0043-10A-01W G G A G G G Somatic Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_000088 Missense p.L1235F p.L1235F COL1A1 1277 hgsc.bcm.edu 36 17 45623200 45623200 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_000088 Missense p.P774S p.P774S Collagen COL1A1 1277 hgsc.bcm.edu 36 17 45628312 45628312 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_000088 Missense p.P343S p.P343S Collagen COL1A1 1277 hgsc.bcm.edu 36 17 45630091 45630091 + Splice_Site_Del Del C C - Unknown Unknown TCGA-02-0043-01A-01W TCGA-02-0043-10A-01W C C C - C C Unknown Valid Somatic Novel: No Cosmic Nucleotide Unknown NM_000088 Splice_Site_Del e9+1 e9+1 COL1A2 1278 genome.wustl.edu 36 7 93892889 93892889 + Missense_Mutation SNP G A G Unknown Unknown TCGA-06-0126-01A-01W TCGA-06-0126-10A-01W G G G A G G Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_000089 Missense p.R938H p.R938H Collagen COL3A1 1281 broad.mit.edu 36 2 189576409 189576409 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0043-01A-01W TCGA-02-0043-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_000090 Missense p.G861S p.G861S Collagen COL3A1 1281 broad.mit.edu 36 2 189576733 189576733 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_000090 Missense p.G879D p.G879D Collagen COL6A2 1292 genome.wustl.edu 36 21 46358384 46358384 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W C C C T C C Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_001849 Missense p.P257L p.P257L VWA CSNK1E 1454 broad.mit.edu 36 22 37019247 37019247 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W C C C T C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_001894 Missense p.G415R p.G415R CTNNB1 1499 genome.wustl.edu 36 3 41240577 41240577 + Splice_Site_SNP SNP G A G Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W G G A G G G Valid Valid Somatic Novel: Nucleotide Unknown NM_001904 Splice_Site e1+1 e1+1 CTSH 1512 genome.wustl.edu 36 15 77008808 77008808 + Splice_Site_SNP SNP C C T Unknown Unknown TCGA-02-0043-01A-01W TCGA-02-0043-10A-01W C C C T C C Valid Valid Somatic Novel: No Cosmic File Unknown NM_004390 Splice_Site e8+1 e8+1 CYLD 1540 genome.wustl.edu 36 16 49341571 49341571 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W C C C T C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_015247 Missense p.A154V p.A154V CAP_GLY CYP27B1 1594 genome.wustl.edu 36 12 56444898 56444898 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0043-01A-01W TCGA-02-0043-10A-01W C C C T C C Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_000785 Missense p.G290E p.G290E p450 CYP27B1 1594 genome.wustl.edu 36 12 56445112 56445112 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0080-01A-01W TCGA-02-0080-10A-01W G G G A G G Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_000785 Missense p.P247S p.P247S p450 CYP3A4 1576 genome.wustl.edu 36 7 99219625 99219625 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0099-01A-01W TCGA-02-0099-10A-01W C C C T C C Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid ENST00000336411 Missense p.D6N p.D6N DCX 1641 genome.wustl.edu 36 X 110442569 110442569 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000555 Missense p.P409L p.P409L DGKD 8527 broad.mit.edu 36 2 233961724 233961724 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G G A G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_152879 Missense p.R80Q p.R80Q PH DGKG 1608 hgsc.bcm.edu 36 3 187469360 187469361 + Frame_Shift_Ins Ins - 0 AC Unknown Unknown TCGA-02-0054-01A-01W TCGA-02-0054-10A-01W - 0 - AC - AC Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_001346 Frame_Shift_Ins p.K347insNSVTGATKVSSATRVSPRGTACGAG* p.K347fs C1_1 Validation_Germline DHTKD1 55526 broad.mit.edu 36 10 12199705 12199705 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_018706 Missense p.A783T p.A783T DMBT1 1755 genome.wustl.edu 36 10 124348403 124348403 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W C C C T C C Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_007329 Missense p.A1027V p.A1027V DOCK1 1793 broad.mit.edu 36 10 129073048 129073048 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W C C T C C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid ENST00000280333 Missense p.S1250L p.S1250L DST 667 genome.wustl.edu 36 6 56466808 56466808 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W C C C T C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid ENST00000370769 Missense p.E6576K p.E6576K Spectrin DST 667 genome.wustl.edu 36 6 56534115 56534115 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0043-01A-01W TCGA-02-0043-10A-01W G G A G G G Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid ENST00000370769 Missense p.P4545S p.P4545S Spectrin DST 667 genome.wustl.edu 36 6 56564994 56564994 + Missense_Mutation SNP G C G Unknown Unknown TCGA-06-0125-01A-01W TCGA-06-0125-10A-01W G G G C G G Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid ENST00000370769 Missense p.S4074C p.S4074C Spectrin DST 667 genome.wustl.edu 36 6 56576971 56576971 + Missense_Mutation SNP C C T Unknown Unknown TCGA-06-0145-01A-04W TCGA-06-0145-10A-04W C C C T C C Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid ENST00000370769 Missense p.E3261K p.E3261K Spectrin DST 667 genome.wustl.edu 36 6 56580657 56580657 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid ENST00000370769 Missense p.G2032E p.G2032E Spectrin DST 667 genome.wustl.edu 36 6 56581605 56581605 + Missense_Mutation SNP T C T Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W T T C T T T Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid ENST00000370769 Missense p.E1716G p.E1716G Spectrin:Plectin DST 667 genome.wustl.edu 36 6 56591932 56591932 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0014-01A-01W TCGA-02-0014-10A-01W C C C T C C Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid ENST00000281662 Missense p.G2183D p.G2183D DST 667 genome.wustl.edu 36 6 56607311 56607311 + Missense_Mutation SNP C C G Unknown Unknown TCGA-06-0148-01A-01W TCGA-06-0148-10A-01W C C C G C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid ENST00000370769 Missense p.K923N p.K923N Spectrin:SH3_1 DTX3 196403 broad.mit.edu 36 12 56288721 56288721 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0107-01A-01W TCGA-02-0107-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid ENST00000337737 Missense p.G304E p.G304E EGFR 1956 genome.wustl.edu 36 7 55177569 55177569 + Missense_Mutation SNP T G G Unknown Unknown TCGA-06-0237-01A-02W TCGA-06-0237-10A-01W T T T G T T Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_005228 Missense p.L62R p.L62R Recep_L_domain EGFR 1956 hgsc.bcm.edu 36 7 55187768 55187768 + Missense_Mutation SNP C T T Unknown Unknown TCGA-06-0154-01A-02W TCGA-06-0154-10A-01W C C C T C C Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_005228 Missense p.R222C p.R222C Furin-like:Recep_L_domain EGFR 1956 genome.wustl.edu 36 7 55189204 55189204 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0021-01A-01W TCGA-02-0021-10A-01W C C C T C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_005228 Missense p.R252C p.R252C Furin-like:Recep_L_domain EGFR 1956 broad.mit.edu 36 7 55189237 55189237 + Missense_Mutation SNP A A C Unknown Unknown TCGA-02-0007-01A-01W TCGA-02-0007-10A-01W A A C A A A Unknown Valid Somatic Match: Amino Acid Novel: Amino Acid NM_005228 Missense p.T263P p.T263P Furin-like:Recep_L_domain EGFR 1956 genome.wustl.edu 36 7 55189315 55189315 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0089-01A-01W TCGA-02-0089-10A-01W G G A A G G Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_005228 Missense p.A289T p.A289T Furin-like:Recep_L_domain EGFR 1956 genome.wustl.edu 36 7 55189316 55189316 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0054-01A-01W TCGA-02-0054-10A-01W C C C T C C Unknown Valid Somatic Match: Amino Acid Novel: Amino Acid NM_005228 Missense p.A289V p.A289V Furin-like:Recep_L_domain EGFR 1956 broad.mit.edu 36 7 55189316 55189316 + Missense_Mutation SNP C T T Unknown Unknown TCGA-06-0148-01A-03W TCGA-06-0148-10A-01W C C T T C C Unknown Valid Somatic Match: Amino Acid Novel: Amino Acid NM_005228 Missense p.A289V p.A289V Furin-like:Recep_L_domain EGFR 1956 broad.mit.edu 36 7 55189316 55189316 + Missense_Mutation SNP C C T Unknown Unknown TCGA-06-0156-01A-01W TCGA-06-0156-10A-01W C C C T C C Unknown Valid Somatic Match: Amino Acid Novel: Amino Acid NM_005228 Missense p.A289V p.A289V Furin-like:Recep_L_domain EGFR 1956 genome.wustl.edu 36 7 55189316 55189316 + Missense_Mutation SNP C T T Unknown Unknown TCGA-06-0157-01A-01W TCGA-06-0157-10A-01W C C T T C C Unknown Valid Somatic Match: Amino Acid Novel: Amino Acid NM_005228 Missense p.A289V p.A289V Furin-like:Recep_L_domain EGFR 1956 genome.wustl.edu 36 7 55200533 55200533 + Missense_Mutation SNP G C C Unknown Unknown TCGA-02-0116-01A-01W TCGA-02-0116-10A-01W G G G C G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_005228 Missense p.A597P p.A597P EGFR 1956 genome.wustl.edu 36 7 55200537 55200537 + Missense_Mutation SNP G T T Unknown Unknown TCGA-02-0046-01A-01W TCGA-02-0046-10A-01W G G T T G G Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_005228 Missense p.G598V p.G598V EGFR 1956 genome.wustl.edu 36 7 55200537 55200537 + Missense_Mutation SNP G T T Unknown Unknown TCGA-06-0125-01A-01W TCGA-06-0125-10A-01W G G G T G G Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_005228 Missense p.G598V p.G598V EGFR 1956 genome.wustl.edu 36 7 55200603 55200603 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0003-01A-01W TCGA-02-0003-10A-01W G G A G G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_005228 Missense p.C620Y p.C620Y EGFR 1956 hgsc.bcm.edu 36 7 55205721 55205721 + Missense_Mutation SNP C C T rs10258568 Valid TCGA-06-0156-01A-01W TCGA-06-0156-10A-01W C C Unknown Unknown C C Somatic Unknown Somatic Position Match: Amino Acid Novel: Amino Acid NM_201284 Missense p.S703F p.S703F Unvalidated_Verification_Somatic EGFR 1956 genome.wustl.edu 36 7 55208201 55208201 + Missense_Mutation SNP G A G Unknown Unknown TCGA-06-0185-01A-01W TCGA-06-0185-10B-01W G G G A G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_005228 Missense p.V651M p.V651M EGFR 1956 genome.wustl.edu 36 7 55208288 55208288 + Missense_Mutation SNP C C G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W C C C G C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_005228 Missense p.R680G p.R680G ELAVL2 1993 genome.wustl.edu 36 9 23691590 23691590 + Missense_Mutation SNP C T T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C T T C C Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_004432 Missense p.G167D p.G167D EP300 2033 hgsc.bcm.edu 36 22 39894533 39894533 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W C C C T C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_001429 Missense p.P1337S p.P1337S zf-TAZ:DUF906 EP300 2033 hgsc.bcm.edu 36 22 39903299 39903299 + Missense_Mutation SNP C C T Unknown Unknown TCGA-06-0133-01A-01W TCGA-06-0133-10A-01W C C Unknown Unknown Unknown Unknown Somatic Unknown Somatic Novel: Amino Acid Novel: Amino Acid NM_001429 Missense p.P1880S p.P1880S Unvalidated_Verification_Somatic EP300 2033 hgsc.bcm.edu 36 22 39904088 39904088 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W G G G A G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_001429 Missense p.A2143T p.A2143T EP400 57634 hgsc.bcm.edu 36 12 131012246 131012246 + Nonsense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_015409 Nonsense p.Q377* p.Q377* EP400 57634 hgsc.bcm.edu 36 12 131076211 131076211 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_015409 Missense p.M1640I p.M1640I EP400 57634 hgsc.bcm.edu 36 12 131094732 131094732 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_015409 Missense p.E2169K p.E2169K EPHA2 1969 hgsc.bcm.edu 36 1 16347951 16347951 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W C C C T C C Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_004431 Missense p.G111D p.G111D Ephrin_lbd EPHA4 2043 genome.wustl.edu 36 2 222055639 222055639 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G A G G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_004438 Missense p.P332L p.P332L fn3 EPHA7 2045 hgsc.bcm.edu 36 6 94177152 94177152 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_004440 Missense p.S207F p.S207F EPHA7 2045 hgsc.bcm.edu 36 6 94177566 94177566 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0003-01A-01W TCGA-02-0003-10A-01W C C C T C C Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_004440 Missense p.R69Q p.R69Q Ephrin_lbd ERBB2 2064 genome.wustl.edu 36 17 35116841 35116841 + Missense_Mutation SNP T A T Unknown Unknown TCGA-02-0080-01A-01W TCGA-02-0080-10A-01W T T A T T T Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_004448 Missense p.L49H p.L49H Fixed Validation Alleles ERBB2 2064 genome.wustl.edu 36 17 35116922 35116922 + Splice_Site_SNP SNP T A T Unknown Unknown TCGA-02-0115-01A-01W TCGA-02-0115-10A-01W T T T A T T Valid Valid Somatic Novel: Nucleotide Unknown NM_004448 Splice_Site e2+2 e2+2 ERBB2 2064 genome.wustl.edu 36 17 35119867 35119867 + Missense_Mutation SNP A A T Unknown Unknown TCGA-02-0069-01A-01W TCGA-02-0069-10A-01W A A A T A A Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_004448 Missense p.T216S p.T216S Recep_L_domain:Furin-like ERBB2 2064 genome.wustl.edu 36 17 35121736 35121736 + Missense_Mutation SNP T C T Unknown Unknown TCGA-02-0089-01A-01W TCGA-02-0089-10A-01W T T T C T T Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_004448 Missense p.C311R p.C311R Recep_L_domain:Furin-like ERBB2 2064 genome.wustl.edu 36 17 35121760 35121760 + Missense_Mutation SNP A A G Unknown Unknown TCGA-02-0116-01A-01W TCGA-02-0116-10A-01W A A A G A A Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_004448 Missense p.N319D p.N319D Recep_L_domain:Furin-like ERBB2 2064 genome.wustl.edu 36 17 35121767 35121767 + Missense_Mutation SNP A A G Unknown Unknown TCGA-02-0089-01A-01W TCGA-02-0089-10A-01W A A A G A A Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_004448 Missense p.E321G p.E321G Recep_L_domain:Furin-like ERBB2 2064 genome.wustl.edu 36 17 35121782 35121782 + Missense_Mutation SNP A A G Unknown Unknown TCGA-02-0115-01A-01W TCGA-02-0115-10A-01W A A A G A A Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_004448 Missense p.D326G p.D326G Recep_L_domain:Furin-like ERBB2 2064 genome.wustl.edu 36 17 35121805 35121805 + Missense_Mutation SNP T A T Unknown Unknown TCGA-02-0115-01A-01W TCGA-02-0115-10A-01W T T T A T T Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_004448 Missense p.C334S p.C334S Recep_L_domain:Furin-like ERBB2 2064 genome.wustl.edu 36 17 35133731 35133731 + Missense_Mutation SNP T A T Unknown Unknown TCGA-02-0107-01A-01W TCGA-02-0107-10A-01W T T T A T T Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_004448 Missense p.V750E p.V750E Pkinase_Tyr ERBB2 2064 genome.wustl.edu 36 17 35134527 35134527 + Missense_Mutation SNP T C T Unknown Unknown TCGA-02-0069-01A-01W TCGA-02-0069-10A-01W T T T C T T Valid Valid Somatic Position Match: Amino Acid Novel: Amino Acid NM_004448 Missense p.V777A p.V777A Pkinase_Tyr ERBB2 2064 genome.wustl.edu 36 17 35134527 35134527 + Missense_Mutation SNP T C T Unknown Unknown TCGA-02-0113-01A-01W TCGA-02-0113-10A-01W T T T C Unknown Unknown Valid Unknown Somatic Position Match: Amino Acid Novel: Amino Acid NM_004448 Missense p.V777A p.V777A Pkinase_Tyr ERBB3 2065 hgsc.bcm.edu 36 12 54780232 54780232 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_001982 Missense p.S1046N p.S1046N FBXW7 55294 genome.wustl.edu 36 4 153463593 153463593 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W C C C T C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_033632 Missense p.V672M p.V672M FBXW7 55294 genome.wustl.edu 36 4 153471357 153471357 + Nonsense_Mutation SNP G A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W G G A G G G Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_033632 Nonsense p.R367* p.R367* FGFR1 2260 genome.wustl.edu 36 8 38391465 38391465 + Missense_Mutation SNP T C T Unknown Unknown TCGA-02-0060-01A-01W TCGA-02-0060-10A-01W T T C T T T Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_023111 Missense p.K656E p.K656E Pkinase_Tyr FGFR2 2263 genome.wustl.edu 36 10 123288210 123288210 + Missense_Mutation SNP G G T Unknown Unknown TCGA-02-0033-01A-01W TCGA-02-0033-10A-01W G G G T G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000141 Missense p.Q212K p.Q212K FLI1 2313 broad.mit.edu 36 11 128143273 128143273 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G A G G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid ENST00000344954 Missense p.G94E p.G94E FLI1 2313 broad.mit.edu 36 11 128186040 128186040 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0009-01A-01W TCGA-02-0009-10A-01W G G A G G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid ENST00000344954 Missense p.V436I p.V436I FLT1 2321 hgsc.bcm.edu 36 13 27829760 27829760 + Missense_Mutation SNP C A C Unknown Unknown TCGA-06-0173-01A-01W TCGA-06-0173-10B-01W C C A C C C Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_002019 Missense p.G727C p.G727C I-set FLT4 2324 genome.wustl.edu 36 5 179978410 179978410 + Missense_Mutation SNP C C G Unknown Unknown TCGA-06-0201-01A-01W TCGA-06-0201-10A-01W C C C G C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_182925 Missense p.E989D p.E989D Pkinase_Tyr FN1 2335 broad.mit.edu 36 2 215948361 215948361 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_212482 Missense p.A1993V p.A1993V fn3:fn1 FN1 2335 broad.mit.edu 36 2 215948606 215948606 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W C C C T C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_212482 Missense p.A1990T p.A1990T fn3:fn1 FN1 2335 broad.mit.edu 36 2 215997243 215997243 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_212482 Missense p.P363S p.P363S fn2:fn1 FN1 2335 broad.mit.edu 36 2 215998200 215998200 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_212482 Missense p.P300S p.P300S fn1 FOXO3 2309 broad.mit.edu 36 6 108989360 108989360 + Missense_Mutation SNP G C C Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C G G C G G Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_001455 Missense p.G86R c.772 FOXO4 4303 genome.wustl.edu 36 X 70237836 70237836 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid ENST00000374259 Missense p.S344F p.S344F FRAP1 2475 genome.wustl.edu 36 1 11224264 11224264 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_004958 Missense p.A492T p.A492T FURIN 5045 genome.wustl.edu 36 15 89225202 89225202 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W G G G A G G Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_002569 Missense p.A574T p.A574T P_proprotein FURIN 5045 genome.wustl.edu 36 15 89225687 89225687 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W C C C T C C Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_002569 Missense p.P654S p.P654S FURIN 5045 genome.wustl.edu 36 15 89225991 89225991 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W G G G A G G Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_002569 Missense p.G755D p.G755D GATA3 2625 genome.wustl.edu 36 10 8140468 8140468 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W G G A G G G Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_001002295 Missense p.A146T p.A146T GATA3 2625 genome.wustl.edu 36 10 8155865 8155865 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W C C C T C C Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_001002295 Missense p.S403F p.S403F GLI1 2735 broad.mit.edu 36 12 56151942 56151942 + Missense_Mutation SNP C C T Unknown Unknown TCGA-06-0133-01A-02W TCGA-06-0133-10A-01W C C T C C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_005269 Missense p.A1051V p.A1051V GLI3 2737 hgsc.bcm.edu 36 7 42046363 42046363 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000168 Missense p.S276N p.S276N GNAI1 2770 broad.mit.edu 36 7 79671071 79671071 + Missense_Mutation SNP G A G Unknown Unknown TCGA-06-0209-01A-01W TCGA-06-0209-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_002069 Missense p.D193N p.D193N GNAS 2778 hgsc.bcm.edu 36 20 56849073 56849073 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W G G A G G G Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_016592 Missense p.A173T p.A173T NESP55 GNAS 2778 hgsc.bcm.edu 36 20 56863479 56863479 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_001077490.1 Missense p.A461V p.A461V Silent_in_ENST00000306120_p.C459 GPR78 27201 genome.wustl.edu 36 4 8633952 8633952 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0009-01A-01W TCGA-02-0009-10A-01W G G G A G G Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_080819 Missense p.A115T p.A115T 7tm_1 GRIA2 2891 hgsc.bcm.edu 36 4 158462195 158462197 + In_Frame_Del Del AAT AAT - Unknown Unknown TCGA-06-0213-01A-01W TCGA-06-0213-10A-01W AAT AAT AAT - AAT AAT Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_000826 In_Frame_Del p.I293del p.I293del ANF_receptor GRLF1 2909 hgsc.bcm.edu 36 19 52115128 52115128 + Nonsense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Somatic Valid Somatic Novel: No Cosmic File Novel: Amino Acid ENST00000317082 Nonsense p.W452* p.W452* GYPC 2995 genome.wustl.edu 36 2 127170093 127170093 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G A G G G Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_002101 Missense p.G98S p.G98S HSP90AA1 3320 hgsc.bcm.edu 36 14 101617806 101617806 + Missense_Mutation SNP T C T Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W T T T C T T Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_001017963 Missense p.D854G p.D854G HSP90 HSP90AA1 3320 hgsc.bcm.edu 36 14 101675353 101675353 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_001017963 Missense p.P48S p.P48S ID3 3399 broad.mit.edu 36 1 23758222 23758222 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_002167 Missense p.P95S p.P95S IL1RL1 9173 hgsc.bcm.edu 36 2 102332064 102332064 + Missense_Mutation SNP T C T Unknown Unknown TCGA-02-0007-01A-01W TCGA-02-0007-10A-01W T T T C T T Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_016232 Missense p.I404T p.I404T TIR IL31 386653 genome.wustl.edu 36 12 121222973 121222973 + Nonsense_Mutation SNP G G T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G T G G Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid ENST00000377035 Nonsense p.S145* p.S145* ILK 3611 hgsc.bcm.edu 36 11 6586561 6586561 + Missense_Mutation SNP A G G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W A A A G A A Somatic Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_001014794 Missense p.D138G p.D138G ING4 51147 broad.mit.edu 36 12 6630758 6630758 + Missense_Mutation SNP C T T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_016162 Missense p.G234R p.G234R PHD ING4 51147 broad.mit.edu 36 12 6630798 6630798 + Nonsense_Mutation SNP C C T Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W C C T C C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_016162 Nonsense p.W220* p.W220* PHD INSR 3643 hgsc.bcm.edu 36 19 7244845 7244845 + Missense_Mutation SNP C C T Unknown Unknown TCGA-06-0147-01A-01W TCGA-06-0147-10A-01W C C Unknown Unknown Unknown Unknown Somatic Unknown Somatic Novel: Amino Acid Novel: Amino Acid NM_000208 Missense p.A20T p.A20T Unvalidated_Verification_Somatic IQGAP1 8826 hgsc.bcm.edu 36 15 88818012 88818012 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Somatic Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_003870 Missense p.S804F p.S804F IQ IQGAP1 8826 hgsc.bcm.edu 36 15 88818856 88818856 + Missense_Mutation SNP A A G Unknown Unknown TCGA-02-0075-01A-01W TCGA-02-0075-10A-01W A A Unknown Unknown Unknown Unknown Somatic Unknown Somatic Novel: No Cosmic File Novel: Amino Acid NM_003870 Missense p.Q904R p.Q904R Unvalidated_Verification_Somatic IRS1 3667 genome.wustl.edu 36 2 227368280 227368280 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W C C C T C C Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid ENST00000305123 Missense p.R1140H p.R1140H IRS1 3667 genome.wustl.edu 36 2 227370416 227370416 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0033-01A-01W TCGA-02-0033-10A-01W G G G A G G Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid ENST00000305123 Missense p.S428L p.S428L ITGB2 3689 broad.mit.edu 36 21 45131203 45131203 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0014-01A-01W TCGA-02-0014-10A-01W G G A G G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000211 Missense p.T708I p.T708I ITGB2 3689 broad.mit.edu 36 21 45144662 45144662 + Splice_Site_SNP SNP C C T Unknown Unknown TCGA-06-0158-01A-01W TCGA-06-0158-10A-01W C C C T C C Unknown Valid Somatic Novel: Nucleotide Unknown NM_000211 Splice_Site e6+1 e6+1 ITGB3 3690 broad.mit.edu 36 17 42723325 42723325 + Missense_Mutation SNP C C T Unknown Unknown TCGA-06-0141-01A-01W TCGA-06-0141-10A-01W C C C T C C Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_000212 Missense p.R378C p.R378C Integrin_beta ITGB3 3690 broad.mit.edu 36 17 42724694 42724694 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_000212 Missense p.G484E p.G484E ITGB3 3690 broad.mit.edu 36 17 42742529 42742529 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W C C T C C C Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_000212 Missense p.A776V p.A776V Integrin_b_cyt JAG1 182 hgsc.bcm.edu 36 20 10581166 10581166 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0043-01A-01W TCGA-02-0043-10A-01W G G G A G G Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000214 Missense p.P279L p.P279L KIAA1632 57724 hgsc.bcm.edu 36 18 41700876 41700876 + Missense_Mutation SNP C C G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C G C C Somatic Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_020964 Missense p.S2169T p.S2169T KIF3B 9371 hgsc.bcm.edu 36 20 30361377 30361377 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Somatic Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_004798 Missense p.P46S p.P46S Kinesin KIT 3815 genome.wustl.edu 36 4 55288766 55288766 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G A G G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000222 Missense p.A599T p.A599T Pkinase_Tyr KLF4 9314 genome.wustl.edu 36 9 109287936 109287936 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W G G A G G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid ENST00000316479 Missense p.H478Y p.H478Y zf-C2H2 KLF4 9314 genome.wustl.edu 36 9 109289919 109289919 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W C C C T C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid ENST00000316479 Missense p.V184M p.V184M KLF6 1316 genome.wustl.edu 36 10 3814279 3814279 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G A G G G Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_001008490 Missense p.S77F p.S77F KLF6 1316 genome.wustl.edu 36 10 3817172 3817172 + Missense_Mutation SNP T C T Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W T T T C T T Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_001008490 Missense p.E12G p.E12G KLK8 11202 broad.mit.edu 36 19 56195600 56195600 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W G G A G G G Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_144505 Missense p.P86L p.P86L Trypsin KPNA2 3838 broad.mit.edu 36 17 63463748 63463748 + Missense_Mutation SNP G A G Unknown Unknown TCGA-06-0141-01A-01W TCGA-06-0141-10A-01W A G A G G G Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_002266 Missense p.R13H p.R13H IBB KRAS 3845 genome.wustl.edu 36 12 25289551 25289551 + Missense_Mutation SNP C C G Unknown Unknown TCGA-02-0069-01A-01W TCGA-02-0069-10A-01W C C C G C C Valid Valid Somatic Match: Amino Acid Position Match: Amino Acid NM_033360 Missense p.G12A p.G12A Ras KTN1 3895 broad.mit.edu 36 14 55148856 55148856 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_182926 Missense p.E113K p.E113K LAMP1 3916 broad.mit.edu 36 13 113008879 113008879 + Missense_Mutation SNP C C G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C G C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_005561 Missense p.S47C p.S47C Lamp LAMP1 3916 broad.mit.edu 36 13 113021973 113021973 + Splice_Site_SNP SNP G A G Unknown Unknown TCGA-02-0116-01A-01W TCGA-02-0116-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic File Unknown NM_005561 Splice_Site e5+1 e5+1 LAX1 54900 genome.wustl.edu 36 1 202010148 202010148 + Missense_Mutation SNP A A T Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W A A A T A A Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid ENST00000367217 Missense p.S305C p.S305C LDHA 3939 genome.wustl.edu 36 11 18380975 18380975 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_005566 Missense p.T144I p.T144I Ldh_1_N LDHA 3939 genome.wustl.edu 36 11 18381850 18381850 + Missense_Mutation SNP T C T Unknown Unknown TCGA-02-0014-01A-01W TCGA-02-0014-10A-01W T T C T T T Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_005566 Missense p.V209A p.V209A Ldh_1_C LGALS3BP 3959 broad.mit.edu 36 17 74479447 74479447 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W C C C T C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_005567 Missense p.A522T p.A522T LRRN2 10446 hgsc.bcm.edu 36 1 202854501 202854501 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0043-01A-01W TCGA-02-0043-10A-01W C C C T C C Somatic Valid Somatic Novel: No Cosmic File Novel: Amino Acid ENST00000367175 Missense p.E415K c.1243 LTF 4057 genome.wustl.edu 36 3 46454625 46454625 + Splice_Site_SNP SNP C C T Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W C C C T C C Valid Valid Somatic Novel: No Cosmic File Unknown NM_002343 Splice_Site e16-1 e16-1 LTF 4057 genome.wustl.edu 36 3 46471868 46471868 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W G G A G G G Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_002343 Missense p.R190C p.R190C Transferrin LYN 4067 genome.wustl.edu 36 8 57025643 57025643 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_002350 Missense p.A119V p.A119V MAP3K6 9064 broad.mit.edu 36 1 27555547 27555547 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W C C T C C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_004672 Missense p.E1186K p.E1186K MAPK13 5603 hgsc.bcm.edu 36 6 36212465 36212465 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_002754 Missense p.V184M p.V184M Pkinase MAPK7 5598 genome.wustl.edu 36 17 19225977 19225977 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0014-01A-01W TCGA-02-0014-10A-01W G G G A G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_002749 Missense p.A590T p.A590T MAPK9 5601 broad.mit.edu 36 5 179624427 179624427 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W C C T C C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_002752 Missense p.V91M p.V91M Pkinase MAPK9 5601 broad.mit.edu 36 5 179640065 179640065 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0014-01A-01W TCGA-02-0014-10A-01W C C T C C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_002752 Missense p.G35R p.G35R Pkinase MARK4 57787 hgsc.bcm.edu 36 19 50482763 50482763 + Splice_Site_SNP SNP G A A Unknown Unknown TCGA-06-0147-01A-02W TCGA-06-0147-10A-01W G G Unknown Unknown Unknown Unknown Somatic Unknown Somatic Novel: Nucleotide Unknown ENST00000262891 Splice_Site e13+1 e13+1 Unvalidated_Verification_Somatic MDM2 4193 broad.mit.edu 36 12 67516737 67516737 + Missense_Mutation SNP T C T Unknown Unknown TCGA-02-0085-01A-01W TCGA-02-0085-10A-01W T T T C T T Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_002392 Missense p.Y287H p.Y287H MDM4 4194 genome.wustl.edu 36 1 202774027 202774027 + Missense_Mutation SNP C C G Unknown Unknown TCGA-06-0129-01A-01W TCGA-06-0129-10A-01W C C C G C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_002393 Missense p.T160S p.T160S MEOX2 4223 genome.wustl.edu 36 7 15692146 15692146 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W G G G A G G Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_005924 Missense p.S136F p.S136F MET 4233 genome.wustl.edu 36 7 116168234 116168234 + Nonsense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G G A G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000245 Nonsense p.W540* p.W540* PSI MET 4233 hgsc.bcm.edu 36 7 116199281 116199281 + Splice_Site_SNP SNP T C T Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W T T T C T T Somatic Valid Somatic Novel: Nucleotide Unknown NM_000245 Splice_Site e13+2 e13+2 MLH1 4292 genome.wustl.edu 36 3 37017543 37017543 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G A G G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000249 Missense p.G101S p.G101S HATPase_c MLH1 4292 genome.wustl.edu 36 3 37042321 37042321 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G A G G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000249 Missense p.A410T p.A410T MLH1 4292 genome.wustl.edu 36 3 37056750 37056750 + Missense_Mutation SNP A A G Unknown Unknown TCGA-02-0014-01A-01W TCGA-02-0014-10A-01W A A G G A A Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000249 Missense p.H543R p.H543R MLL4 9757 broad.mit.edu 36 19 40903582 40903582 + Missense_Mutation SNP C A A Unknown Unknown TCGA-02-0057-01A-01W TCGA-02-0057-10A-01W C C C A Unknown Unknown Unknown Unknown Somatic Unknown Unknown ENST00000222270 Missense p.T498N p.T498N NOT_VALIDATED_IN_NORMAL MLL4 9757 broad.mit.edu 36 19 40908522 40908522 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G G A G G Unknown Valid Somatic Unknown Unknown ENST00000222270 Missense p.S1285N p.S1285N MLL4 9757 broad.mit.edu 36 19 40916372 40916372 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W C C C T C C Unknown Valid Somatic Unknown Unknown ENST00000222270 Missense p.R2334C p.R2334C MN1 4330 genome.wustl.edu 36 22 26476992 26476992 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W C C C T C C Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_002430 Missense p.A1292T p.A1292T MSH2 4436 genome.wustl.edu 36 2 47484039 47484039 + Missense_Mutation SNP C A C Unknown Unknown TCGA-02-0075-01A-01W TCGA-02-0075-10A-01W C C C A C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000251 Missense p.P69T p.P69T MutS_I MSH2 4436 genome.wustl.edu 36 2 47557079 47557079 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G A G G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000251 Missense p.G692E p.G692E MutS_V MSH6 2956 hgsc.bcm.edu 36 2 47880076 47880076 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G G A G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000179 Missense p.E484K p.E484K MutS_I MSH6 2956 hgsc.bcm.edu 36 2 47881696 47881696 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W C C C T C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000179 Missense p.R1024W p.R1024W MutS_IV MSH6 2956 hgsc.bcm.edu 36 2 47881792 47881792 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000179 Missense p.V1056M p.V1056M MSH6 2956 hgsc.bcm.edu 36 2 47886856 47886856 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0043-01A-01W TCGA-02-0043-10A-01W C C C T C C Unknown Valid Somatic Match: Amino Acid Novel: Amino Acid NM_000179 Missense p.T1219I p.T1219I MutS_V MSI1 4440 broad.mit.edu 36 12 119280036 119280036 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C T C C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_002442 Missense p.C167Y p.C167Y RRM_1 MSI1 4440 broad.mit.edu 36 12 119286911 119286911 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W C C T C C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_002442 Missense p.A100T p.A100T RRM_1 MTAP 4507 broad.mit.edu 36 9 21827925 21827925 + Missense_Mutation SNP G C G Unknown Unknown TCGA-06-0156-01A-01W TCGA-06-0156-10A-01W G G G C G G Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_002451 Missense p.Q122H p.Q122H Mtap_PNP MYCN 4613 broad.mit.edu 36 2 15999768 15999768 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W C C C T C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_005378 Missense p.P44L p.P44L Myc_N MYLK2 85366 broad.mit.edu 36 20 29871752 29871752 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0043-01A-01W TCGA-02-0043-10A-01W G G A G G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_033118 Missense p.S72N p.S72N MYST4 23522 broad.mit.edu 36 10 76407199 76407199 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_012330 Missense p.E705K p.E705K MYST4 23522 broad.mit.edu 36 10 76459177 76459177 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0043-01A-01W TCGA-02-0043-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_012330 Missense p.G1530E p.G1530E NBN 4683 genome.wustl.edu 36 8 91017009 91017009 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0099-01A-01W TCGA-02-0099-10A-01W G G G A G G Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_002485 Missense p.P748S p.P748S NDUFA10 4705 genome.wustl.edu 36 2 240599706 240599706 + Splice_Site_SNP SNP C C T Unknown Unknown TCGA-02-0099-01A-01W TCGA-02-0099-10A-01W C C C T C C Valid Valid Somatic Novel: No Cosmic File Unknown NM_004544 Splice_Site e6+1 e6+1 NEK10 152110 genome.wustl.edu 36 3 27208682 27208682 + Missense_Mutation SNP T C T Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W T T C T T T Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid ENST00000295720 Missense p.I95V p.I95V Pkinase NELL2 4753 broad.mit.edu 36 12 43212631 43212631 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_006159 Missense p.D602N p.D602N VWC:EGF_CA NF1 4763 genome.wustl.edu 36 17 26574560 26574598 + Splice_Site_Del Del AGTAACAATGAACTTTATGTTACTGCAGCTCACAAATGC AGTAACAATGAACTTTATGTTACTGCAGCTCACAAATGC - Unknown Unknown TCGA-02-0001-01C-01W TCGA-02-0001-10A-01W AGTAACAATGAACTTTATGTTACTGCAGCTCACAAATGC AGTAACAATGAACTTTATGTTACTGCAGCTCACAAATGC AGTAACAATGAACTTTATGTTACTGCAGCTCACAAATGC - Unknown Unknown Valid Unknown Somatic Novel: Amino Acid Novel: Amino Acid NM_000267 Splice_Site_Del e16-28_S575 e16-28_S575 NF1 4763 genome.wustl.edu 36 17 26580304 26580304 + Nonsense_Mutation SNP G G T Unknown Unknown TCGA-02-0075-01A-01W TCGA-02-0075-10A-01W G G G T G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000267 Nonsense p.G849* p.G849* NF1 4763 genome.wustl.edu 36 17 26581118 26581118 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W G A G A G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000267 Missense p.R997K p.R997K NF1 4763 genome.wustl.edu 36 17 26609550 26609550 + Missense_Mutation SNP A A T Unknown Unknown TCGA-02-0107-01A-01W TCGA-02-0107-10A-01W A A A T A A Valid Valid Somatic Novel: Amino Acid Match: Amino Acid NM_000267 Missense p.R1391S p.R1391S RasGAP NF1 4763 genome.wustl.edu 36 17 26610175 26610175 + Splice_Site_SNP SNP G A G Unknown Unknown TCGA-02-0033-01A-01W TCGA-02-0033-10A-01W G G G A G G Valid Valid Somatic Novel: Nucleotide Unknown NM_000267 Splice_Site e32-1 e32-1 NF1 4763 genome.wustl.edu 36 17 26610182 26610182 + Missense_Mutation SNP C A C Unknown Unknown TCGA-06-0190-01A-01W TCGA-06-0190-10B-01W C C C A C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000267 Missense p.Q1426K p.Q1426K RasGAP NF1 4763 genome.wustl.edu 36 17 26612877 26612877 + Nonsense_Mutation SNP C C T Unknown Unknown TCGA-06-0201-01A-01W TCGA-06-0201-10A-01W C C Unknown Unknown Unknown Unknown Valid Unknown Somatic Match: Amino Acid Novel: Amino Acid NM_000267 Nonsense p.R1513* p.R1513* NF1 4763 genome.wustl.edu 36 17 26677105 26677108 + Frame_Shift_Del Del CTCT CTCT - Unknown Unknown TCGA-02-0107-01A-01W TCGA-02-0107-10A-01W CTCT CTCT CTCT - CTCT CTCT Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000267 Frame_Shift_Del p.K1640delGLLFFLALLTTTSPQSISITVTPGSGSTPSIMSGC* p.K1640fs NF1 4763 genome.wustl.edu 36 17 26677114 26677114 + Nonsense_Mutation SNP G A G Unknown Unknown TCGA-02-0115-01A-01W TCGA-02-0115-10A-01W G G G A G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000267 Nonsense p.W1641* p.W1641* NF1 4763 genome.wustl.edu 36 17 26678919 26678919 + Missense_Mutation SNP G A G Unknown Unknown TCGA-06-0214-01A-02W TCGA-06-0214-10A-01W G G G A G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000267 Missense p.D1828N p.D1828N NF1 4763 genome.wustl.edu 36 17 26678984 26678984 + Splice_Site_SNP SNP G A G Unknown Unknown TCGA-06-0201-01A-01W TCGA-06-0201-10A-01W G G G A G G Valid Valid Somatic Novel: Nucleotide Unknown NM_000267 Splice_Site e37+1 e37+1 NF1 4763 genome.wustl.edu 36 17 26686128 26686128 + Nonsense_Mutation SNP C C T Unknown Unknown TCGA-06-0124-01A-01W TCGA-06-0124-10A-01W C C C T C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000267 Nonsense p.Q1966* p.Q1966* NF1 4763 genome.wustl.edu 36 17 26687479 26687479 + Frame_Shift_Del Del T T - Unknown Unknown TCGA-02-0086-01A-01W TCGA-02-0086-10A-01W T T T - Unknown Unknown Valid Unknown Somatic Novel: Amino Acid Novel: Amino Acid NM_000267 Frame_Shift_Del p.T1983delQICLMLY* p.T1983fs NF1 4763 genome.wustl.edu 36 17 26688511 26688511 + Splice_Site_SNP SNP G A G Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W G G A G G G Valid Valid Somatic Novel: Nucleotide Unknown NM_000267 Splice_Site e42-1 e42-1 NF1 4763 genome.wustl.edu 36 17 26689934 26689934 + Frame_Shift_Del Del G G - Unknown Unknown TCGA-06-0184-01A-01W TCGA-06-0184-10B-01W G G G - G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000267 Frame_Shift_Del p.Q2281delHHFLIRTRLCTKPSFG* p.Q2281fs NF1 4763 genome.wustl.edu 36 17 26691678 26691678 + Nonsense_Mutation SNP G A G Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W G G A G G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000267 Nonsense p.W2296* p.W2296* NF1 4763 genome.wustl.edu 36 17 26691722 26691722 + Nonsense_Mutation SNP C A C Unknown Unknown TCGA-06-0124-01A-01W TCGA-06-0124-10A-01W C C C A C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000267 Nonsense p.S2311* p.S2311* NF1 4763 genome.wustl.edu 36 17 26691733 26691733 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W G G A G G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000267 Missense p.A2315T p.A2315T NF1 4763 genome.wustl.edu 36 17 26691739 26691739 + Frame_Shift_Del Del C C - Unknown Unknown TCGA-02-0086-01A-01W TCGA-02-0086-10A-01W C C C - C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000267 Frame_Shift_Del p.E2318delNKTCIL* p.E2318fs NMBR 4829 hgsc.bcm.edu 36 6 142441713 142441713 + Missense_Mutation SNP G G T Unknown Unknown TCGA-06-0178-10B-01W TCGA-06-0178-01A-01W G G G T G G Somatic Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_002511 Missense p.P148H p.P148H 7tm_1 NMBR 4829 hgsc.bcm.edu 36 6 142451232 142451232 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W G G G A G G Somatic Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_002511 Missense p.A86V p.A86V 7tm_1 NOS3 4846 genome.wustl.edu 36 7 150327287 150327287 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G G A G G Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_000603 Missense p.G345S p.G345S NO_synthase NOS3 4846 genome.wustl.edu 36 7 150329333 150329333 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G A G G G Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_000603 Missense p.G439R p.G439R NO_synthase NOTCH1 4851 genome.wustl.edu 36 9 138509420 138509420 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G G A G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid ENST00000371701 Missense p.T32I p.T32I NOTCH1 4851 genome.wustl.edu 36 9 138510658 138510658 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid ENST00000277541 Missense p.A2452T p.A2452T NRAS 4893 hgsc.bcm.edu 36 1 115060270 115060270 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0085-01A-01W TCGA-02-0085-10A-01W C C Unknown Unknown Unknown Unknown Somatic Unknown Somatic Match: Amino Acid Novel: Amino Acid NM_002524 Missense p.G12D p.G12D Ras Unvalidated_Verification_Somatic NTRK3 4916 genome.wustl.edu 36 15 86528499 86528499 + Missense_Mutation SNP T C T Unknown Unknown TCGA-02-0043-01A-01W TCGA-02-0043-10A-01W T T C T T T Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_001012338 Missense p.N95S p.N95S PAX5 5079 genome.wustl.edu 36 9 36836902 36836902 + Missense_Mutation SNP T C T Unknown Unknown TCGA-06-0214-01A-02W TCGA-06-0214-10A-01W T T T C T T Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_016734 Missense p.Y346C p.Y346C PDGFRA 5156 genome.wustl.edu 36 4 54828591 54828591 + Missense_Mutation SNP G C G Unknown Unknown TCGA-06-0174-01A-01W TCGA-06-0174-10B-01W G G G C G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_006206 Missense p.W349C p.W349C I-set PDGFRB 5159 hgsc.bcm.edu 36 5 149477555 149477555 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G G A G G Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_002609 Missense p.L986F p.L986F PDGFRB 5159 hgsc.bcm.edu 36 5 149495455 149495455 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_002609 Missense p.A74T p.A74T ig PDK2 5164 hgsc.bcm.edu 36 17 45539183 45539183 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0043-01A-01W TCGA-02-0043-10A-01W C C C T C C Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid ENST00000007708 Missense p.P182S p.P182S PHLPP 23239 broad.mit.edu 36 18 58790915 58790915 + Missense_Mutation SNP T C T Unknown Unknown TCGA-06-0176-01A-02W TCGA-06-0176-10A-01W T T T C T T Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_194449 Missense p.M738T p.M738T PI15 51050 broad.mit.edu 36 8 75920181 75920181 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0080-01A-01W TCGA-02-0080-10A-01W G G A G G G Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_015886 Missense p.A179T p.A179T SCP PI15 51050 broad.mit.edu 36 8 75923999 75923999 + Missense_Mutation SNP T A T Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W T T T A T T Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_015886 Missense p.C245S p.C245S PIK3C2B 5287 broad.mit.edu 36 1 202674772 202674772 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0043-01A-01W TCGA-02-0043-10A-01W C C C T C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_002646 Missense p.E1144K p.E1144K PI3_PI4_kinase PIK3CA 5290 hgsc.bcm.edu 36 3 180399335 180399355 + In_Frame_Del Del CTGTGGGGCATCCACTTGATG CTGTGGGGCATCCACTTGATG - Unknown Unknown TCGA-06-0166-01A-01W TCGA-06-0166-10A-01W CTGTGGGGCATCCACTTGATG CTGTGGGGCATCCACTTGATG CTGTGGGGCATCCACTTGATG - CTGTGGGGCATCCACTTGATG CTGTGGGGCATCCACTTGATG Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_006218 In_Frame_Del p.LWGIHLM10del p.LWGIHLM10del PIK3CA 5290 hgsc.bcm.edu 36 3 180399357 180399359 + In_Frame_Del Del CCC CCC - Unknown Unknown TCGA-02-0046-01A-01W TCGA-02-0046-10A-01W CCC CCC CCC - CCC CCC Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_006218 In_Frame_Del p.P18del p.P18del PIK3CA 5290 hgsc.bcm.edu 36 3 180399570 180399570 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0116-01A-01W TCGA-02-0116-10A-01W G G G A G G Unknown Valid Somatic Match: Amino Acid Novel: Amino Acid NM_006218 Missense p.R88Q p.R88Q PI3K_p85B PIK3CA 5290 hgsc.bcm.edu 36 3 180404247 180404247 + Missense_Mutation SNP T A T Unknown Unknown TCGA-02-0047-01A-01W TCGA-02-0047-10A-01W T T T A T T Somatic Valid Somatic Match: Amino Acid Novel: Amino Acid NM_006218 Missense p.N345K p.N345K PIK3CA 5290 hgsc.bcm.edu 36 3 180410674 180410674 + Missense_Mutation SNP T C T Unknown Unknown TCGA-02-0037-01A-01W TCGA-02-0037-10A-01W T T C T T T Somatic Valid Somatic Match: Amino Acid Novel: Amino Acid NM_006218 Missense p.C420R p.C420R PI3K_C2 PIK3CA 5290 hgsc.bcm.edu 36 3 180434766 180434766 + Missense_Mutation SNP A A G Unknown Unknown TCGA-06-0171-01A-02W TCGA-06-0171-10A-01W A A Unknown Unknown A A Somatic Unknown Somatic Match: Amino Acid Novel: Amino Acid NM_006218 Missense p.M1043V p.M1043V Unvalidated_Verification_Somatic PIK3R1 5295 genome.wustl.edu 36 5 67624894 67624894 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0003-01A-01W TCGA-02-0003-10A-01W G G G A G G Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_181523 Missense p.G376R p.G376R SH2 PIK3R1 5295 genome.wustl.edu 36 5 67625310 67625312 + In_Frame_Del Del AGA AGA - Unknown Unknown TCGA-02-0021-01A-01W TCGA-02-0021-10A-01W AGA AGA Unknown Unknown Unknown Unknown Valid Unknown Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_181523 In_Frame_Del p.E439del p.E439del SH2 NOT_VALIDATED PIK3R1 5295 genome.wustl.edu 36 5 67625370 67625372 + In_Frame_Del Del AAG AAG - Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W AAG AAG Unknown Unknown Unknown Unknown Valid Unknown Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_181523 In_Frame_Del p.KS459delN p.KS459delN PIK3R1 5295 genome.wustl.edu 36 5 67626840 67626857 + In_Frame_Del Del TGACAAACGTATGAACAG TGACAAACGTATGAACAG - Unknown Unknown TCGA-06-0178-10B-01W TCGA-06-0178-01A-01W TGACAAACGTATGAACAG TGACAAACGTATGAACAG Unknown Unknown Unknown Unknown Valid Unknown Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_181523 In_Frame_Del p.DKRMNS560del p.DKRMNS560del PIK3R1 5295 genome.wustl.edu 36 5 67626841 67626841 + Missense_Mutation SNP G G T Unknown Unknown TCGA-02-0089-01A-01W TCGA-02-0089-10A-01W G G G T G G Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_181523 Missense p.D560Y p.D560Y SH2 PIK3R1 5295 genome.wustl.edu 36 5 67626855 67626855 + Missense_Mutation SNP C C G Unknown Unknown TCGA-02-0074-01A-01W TCGA-02-0074-10A-01W C C C G C C Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_181523 Missense p.N564K p.N564K SH2 PIK3R1 5295 genome.wustl.edu 36 5 67626884 67626885 + Frame_Shift_Del Del GA GA - Unknown Unknown TCGA-06-0129-01A-01W TCGA-06-0129-10A-01W GA GA Unknown Unknown Unknown Unknown Valid Unknown Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_181523 Frame_Shift_Del p.R574delKDERPILDVVDSKRCSAKEVERVVGQ* p.R574fs SH2 NOT_VALIDATED PIK3R1 5295 genome.wustl.edu 36 5 67626890 67626892 + In_Frame_Del Del CGA CGA - Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W CGA CGA Unknown Unknown Unknown Unknown Valid Unknown Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_181523 In_Frame_Del p.T576del p.T576del SH2 PIK3R1 5295 genome.wustl.edu 36 5 67627006 67627008 + In_Frame_Del Del GGT GGT - Unknown Unknown TCGA-06-0133-01A-02W TCGA-06-0133-10A-01W GGT GGT Unknown Unknown Unknown Unknown Valid Unknown Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_181523 In_Frame_Del p.W583del p.W583del SH2 NOT_VALIDATED PIM1 5292 hgsc.bcm.edu 36 6 37247171 37247171 + Missense_Mutation SNP A A G Unknown Unknown TCGA-02-0011-01B-01W TCGA-02-0011-10A-01W A A A G A A Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid ENST00000373507 Missense p.N269S p.N269S Pkinase PLAG1 5324 genome.wustl.edu 36 8 57241776 57241776 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0055-01A-01W TCGA-02-0055-10A-01W C C C T C C Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_002655 Missense p.M361I p.M361I PML 5371 genome.wustl.edu 36 15 72077554 72077554 + Missense_Mutation SNP C A C Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C A C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_033238 Missense p.P96T p.P96T PMS2 5395 hgsc.bcm.edu 36 7 6005414 6005414 + Nonsense_Mutation SNP G A G Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W G G G A G G Somatic Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_000535 Nonsense p.Q186* p.Q186* POU2F1 5451 hgsc.bcm.edu 36 1 165625522 165625522 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0043-01A-01W TCGA-02-0043-10A-01W G G A G G G Somatic Valid Somatic Novel: No Cosmic File Novel: Amino Acid ENST00000367862 Missense p.R285Q p.R285Q PPP2R5D 5528 broad.mit.edu 36 6 43083723 43083723 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0069-01A-01W TCGA-02-0069-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_006245 Missense p.G267S p.G267S B56 PRKCA 5578 broad.mit.edu 36 17 62215542 62215542 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_002737 Missense p.P613S p.P613S PRKCB1 5579 broad.mit.edu 36 16 24138810 24138810 + Missense_Mutation SNP G A G Unknown Unknown TCGA-06-0185-01A-01W TCGA-06-0185-10B-01W G G G A G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_212535 Missense p.D631N p.D631N Pkinase_C PRKCD 5580 hgsc.bcm.edu 36 3 53188716 53188716 + Missense_Mutation SNP C C T Unknown Unknown TCGA-06-0145-01A-01W TCGA-06-0145-10A-01W C C C T C C Somatic Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_006254 Missense p.R67C p.R67C PRKCZ 5590 hgsc.bcm.edu 36 1 2072180 2072180 + Missense_Mutation SNP G A G Unknown Unknown TCGA-06-0206-01A-01W TCGA-06-0206-10A-01W G G A G G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_002744 Missense p.R260H p.R260H Pkinase PRKCZ 5590 hgsc.bcm.edu 36 1 2106249 2106249 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_002744 Missense p.E574K p.E574K Pkinase_C PRKD2 25865 broad.mit.edu 36 19 51892838 51892838 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0080-01A-01W TCGA-02-0080-10A-01W C C C T C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_016457 Missense p.D411N p.D411N PH PRKDC 5591 genome.wustl.edu 36 8 48873436 48873436 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0099-01A-01W TCGA-02-0099-10A-01W G G A G G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid ENST00000314191 Missense p.S3457F p.S3457F FAT PRKDC 5591 genome.wustl.edu 36 8 48912493 48912493 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G G A G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid ENST00000314191 Missense p.P2531S p.P2531S PROX1 5629 broad.mit.edu 36 1 212237253 212237253 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid ENST00000389465 Missense p.R251H p.R251H Prox1 PTCH1 5727 hgsc.bcm.edu 36 9 97249179 97249179 + Nonsense_Mutation SNP G A A Unknown Unknown TCGA-06-0125-01A-01W TCGA-06-0125-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_000264 Nonsense p.R1394* p.R1394* PTEN 5728 genome.wustl.edu 36 10 89643789 89643789 + Missense_Mutation SNP G A G Unknown Unknown TCGA-06-0184-01A-01W TCGA-06-0184-10B-01W G G G A G G Valid Valid Somatic Position Match: Amino Acid Novel: Amino Acid NM_000314 Missense p.G36E p.G36E PTEN 5728 hgsc.bcm.edu 36 10 89680799 89680800 + Frame_Shift_Del Del TA TA - Unknown Unknown TCGA-06-0197-01A-02W TCGA-06-0197-10A-01W TA TA TA - TA TA Unknown Valid Somatic Match: Amino Acid Novel: Amino Acid NM_000314 Frame_Shift_Del p.Y76del* p.Y76fs PTEN 5728 genome.wustl.edu 36 10 89680800 89680801 + Frame_Shift_Del Del AT AT - Unknown Unknown TCGA-06-0157-01A-01W TCGA-06-0157-10A-01W AT AT Unknown Unknown Unknown Unknown Valid Unknown Somatic Match: Amino Acid Novel: Amino Acid NM_000314 Frame_Shift_Del p.Y76del* p.Y76fs PTEN 5728 genome.wustl.edu 36 10 89680800 89680801 + Frame_Shift_Del Del AT AT - Unknown Unknown TCGA-06-0197-01A-02W TCGA-06-0197-10A-01W AT AT Unknown Unknown Unknown Unknown Valid Unknown Somatic Match: Amino Acid Novel: Amino Acid NM_000314 Frame_Shift_Del p.Y76del* p.Y76fs PTEN 5728 genome.wustl.edu 36 10 89680805 89680806 + Frame_Shift_Del Del AC - AC Unknown Unknown TCGA-02-0052-01A-01W TCGA-02-0052-10A-01W AC AC Unknown Unknown Unknown Unknown Valid Unknown Somatic Novel: Amino Acid Novel: Amino Acid NM_000314 Frame_Shift_Del p.T78delRQI* p.T78fs Fixed Deletion not Insertion p.T78delRQI* PTEN 5728 genome.wustl.edu 36 10 89682772 89682772 + Missense_Mutation SNP C A C Unknown Unknown TCGA-06-0190-01A-01W TCGA-06-0190-10B-01W C C C A C C Valid Valid Somatic Position Match: Amino Acid Novel: Amino Acid NM_000314 Missense p.D92E p.D92E PTEN 5728 genome.wustl.edu 36 10 89682783 89682783 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0014-01A-01W TCGA-02-0014-10A-01W C C C T C C Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_000314 Missense p.P96L p.P96L PTEN 5728 hgsc.bcm.edu 36 10 89682810 89682811 + Frame_Shift_Del Del GT GT - Unknown Unknown TCGA-06-0156-01A-01W TCGA-06-0156-10A-01W GT GT GT - GT GT Unknown Valid Somatic Position Match: Amino Acid Novel: Amino Acid NM_000314 Frame_Shift_Del p.C105del* p.C105fs PTEN 5728 broad.mit.edu 36 10 89682884 89682884 + Nonsense_Mutation SNP C C T Unknown Unknown TCGA-06-0138-01A-01W TCGA-06-0138-10C-01W C C C T C C Unknown Valid Somatic Match: Amino Acid Position Match: Amino Acid NM_000314 Nonsense p.R130* p.R130* DSPc PTEN 5728 broad.mit.edu 36 10 89682884 89682884 + Nonsense_Mutation SNP C C T Unknown Unknown TCGA-06-0176-01A-02W TCGA-06-0176-10A-01W C C C T C C Unknown Valid Somatic Match: Amino Acid Position Match: Amino Acid NM_000314 Nonsense p.R130* p.R130* DSPc PTEN 5728 genome.wustl.edu 36 10 89682885 89682885 + Frame_Shift_Del Del G G - Unknown Unknown TCGA-02-0027-01A-01W TCGA-02-0027-10A-01W G G G - G G Valid Valid Somatic Position Match: Amino Acid Position Match: Amino Acid NM_000314 Frame_Shift_Del p.R130delQLV* p.R130fs DSPc PTEN 5728 genome.wustl.edu 36 10 89682887 89682887 + Missense_Mutation SNP A A G Unknown Unknown TCGA-02-0055-01A-01W TCGA-02-0055-10A-01W A A A G A A Valid Valid Somatic Position Match: Amino Acid Novel: Amino Acid NM_000314 Missense p.T131A p.T131A DSPc Fixed Validation Alleles PTEN 5728 genome.wustl.edu 36 10 89682891 89682891 + Missense_Mutation SNP G A A Unknown Unknown TCGA-06-0187-01A-01W TCGA-06-0187-10B-01W G G G A G G Valid Valid Somatic Match: Amino Acid Position Match: Amino Acid NM_000314 Missense p.G132D p.G132D DSPc PTEN 5728 genome.wustl.edu 36 10 89682971 89682971 + Frame_Shift_Del Del A A - Unknown Unknown TCGA-02-0001-01C-01W TCGA-02-0001-10A-01W A A Unknown Unknown Unknown Unknown Valid Unknown Somatic Position Match: Amino Acid Novel: Amino Acid NM_000314 Frame_Shift_Del p.R159delGPETKRE* p.R159fs PTEN 5728 genome.wustl.edu 36 10 89682972 89682972 + Missense_Mutation SNP G A A Unknown Unknown TCGA-06-0195-01B-01W TCGA-06-0195-10A-01W G G G A G G Valid Valid Somatic Position Match: Amino Acid Novel: Amino Acid NM_000314 Missense p.R159K p.R159K PTEN 5728 hgsc.bcm.edu 36 10 89701862 89701862 + Missense_Mutation SNP C T T Unknown Unknown TCGA-02-0021-01A-01W TCGA-02-0021-10A-01W C C C G C C Unknown Valid Somatic Position Match: Amino Acid Novel: Amino Acid NM_000314 Missense p.T167I p.T167I PTEN 5728 genome.wustl.edu 36 10 89701862 89701862 + Missense_Mutation SNP C C G Unknown Unknown TCGA-06-0166-01A-01W TCGA-06-0166-10A-01W C C C G C C Valid Valid Somatic Position Match: Amino Acid Novel: Amino Acid NM_000314 Missense p.T167S p.T167S PTEN 5728 genome.wustl.edu 36 10 89701879 89701879 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0038-01A-01W TCGA-02-0038-10A-01W C C C T C C Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_000314 Missense p.R173C p.R173C PTEN 5728 genome.wustl.edu 36 10 89701893 89701893 + Nonsense_Mutation SNP T G T Unknown Unknown TCGA-02-0099-01A-01W TCGA-02-0099-10A-01W T T G T T T Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_000314 Nonsense p.Y177* p.Y177* PTEN 5728 genome.wustl.edu 36 10 89701940 89701940 + Missense_Mutation SNP T C C Unknown Unknown TCGA-02-0007-01A-01W TCGA-02-0007-10A-01W T T C T T T Valid Valid Somatic Position Match: Amino Acid Novel: Amino Acid NM_000314 Missense p.L193P p.L193P PTEN 5728 genome.wustl.edu 36 10 89707658 89707658 + Nonsense_Mutation SNP G G T Unknown Unknown TCGA-02-0113-01A-01W TCGA-02-0113-10A-01W G G G T G G Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_000314 Nonsense p.E235* p.E235* PTEN 5728 genome.wustl.edu 36 10 89707676 89707676 + Missense_Mutation SNP T C T Unknown Unknown TCGA-02-0075-01A-01W TCGA-02-0075-10A-01W T T C T T T Valid Valid Somatic Position Match: Amino Acid Position Match: Amino Acid NM_000314 Missense p.F241L p.F241L PTEN 5728 genome.wustl.edu 36 10 89710659 89710659 + Missense_Mutation SNP C C T Unknown Unknown TCGA-06-0124-01A-01W TCGA-06-0124-10A-01W C C C T C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000314 Missense p.T277I p.T277I PTEN 5728 hgsc.bcm.edu 36 10 89710781 89710784 + Frame_Shift_Del Del CTTA CTTA - Unknown Unknown TCGA-06-0125-01A-01W TCGA-06-0125-10A-01W CTTA CTTA CTTA - CTTA CTTA Unknown Valid Somatic Position Match: Amino Acid Novel: Amino Acid NM_000314 Frame_Shift_Del p.T319del p.T319fs PTEN 5728 genome.wustl.edu 36 10 89710784 89710787 + Frame_Shift_Del Del ACTT - 0 Unknown Unknown TCGA-06-0125-01A-01W TCGA-06-0125-10A-01W ACTT ACTT - 0 ACTT ACTT Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_000314 Frame_Shift_Del p.T319del* p.T319fs PTEN 5728 genome.wustl.edu 36 10 89710784 89710787 + Frame_Shift_Del Del ACTT ACTT - Unknown Unknown TCGA-06-0206-01A-01W TCGA-06-0206-10A-01W ACTT ACTT ACTT - ACTT ACTT Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_000314 Frame_Shift_Del p.T319del* p.T319fs PTEN 5728 genome.wustl.edu 36 10 89710788 89710788 + Nonsense_Mutation SNP T A T Unknown Unknown TCGA-02-0071-01A-01W TCGA-02-0071-10A-01W T T T A T T Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000314 Nonsense p.L320* p.L320* PTEN 5728 genome.wustl.edu 36 10 89710797 89710797 + Frame_Shift_Del Del A A - Unknown Unknown TCGA-06-0188-01A-01W TCGA-06-0188-10B-01W A A Unknown Unknown Unknown Unknown Valid Unknown Somatic Position Match: Amino Acid Novel: Amino Acid NM_000314 Frame_Shift_Del p.N323delMILTKQIKTKPTDTFLQILR* p.N323fs PTEN 5728 genome.wustl.edu 36 10 89710811 89710815 + Frame_Shift_Del Del GCAAA GCAAA - Unknown Unknown TCGA-06-0168-01A-01W TCGA-06-0168-10A-01W GCAAA GCAAA Unknown Unknown Unknown Unknown Valid Unknown Somatic Position Match: Amino Acid Novel: Amino Acid NM_000314 Frame_Shift_Del p.A328del* p.A328fs PTEN 5728 genome.wustl.edu 36 10 89710832 89710832 + Nonsense_Mutation SNP C C T Unknown Unknown TCGA-06-0213-01A-01W TCGA-06-0213-10A-01W C C C T C C Valid Valid Somatic Match: Amino Acid Match: Amino Acid NM_000314 Nonsense p.R335* p.R335* PTPN11 5781 genome.wustl.edu 36 12 111372572 111372572 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W G G A G G G Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_002834 Missense p.E69K p.E69K SH2 PTPN11 5781 genome.wustl.edu 36 12 111395220 111395220 + Missense_Mutation SNP C C G Unknown Unknown TCGA-06-0171-01A-02W TCGA-06-0171-10A-01W C C C G C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_002834 Missense p.I282M p.I282M Y_phosphatase RB1 5925 broad.mit.edu 36 13 47834984 47834984 + Nonsense_Mutation SNP C C T Unknown Unknown TCGA-06-0176-01A-02W TCGA-06-0176-10A-01W C C C T C C Unknown Valid Somatic Match: Amino Acid Novel: Amino Acid NM_000321 Nonsense p.R251* p.R251* RB1 5925 genome.wustl.edu 36 13 47835032 47835069 + Frame_Shift_Del Del CTAGAAAATGATACAAGAATTATTGAAGTTCTCTGTAA CTAGAAAATGATACAAGAATTATTGAAGTTCTCTGTAA - Unknown Unknown TCGA-02-0055-01A-01W TCGA-02-0055-10A-01W CTAGAAAATGATACAAGAATTATTGAAGTTCTCTGTAA CTAGAAAATGATACAAGAATTATTGAAGTTCTCTGTAA Unknown Unknown Unknown Unknown Valid Unknown Somatic Novel: Amino Acid Novel: Amino Acid NM_000321 Frame_Shift_Del p.L267delRT* p.L267fs RB1 5925 broad.mit.edu 36 13 47845597 47845597 + Nonsense_Mutation SNP C C T Unknown Unknown TCGA-06-0195-01B-01W TCGA-06-0195-10A-01W C C T C C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000321 Nonsense p.Q395* p.Q395* RB_A RB1 5925 genome.wustl.edu 36 13 47925250 47925250 + Splice_Site_SNP SNP T C T Unknown Unknown TCGA-02-0052-01A-01W TCGA-02-0052-10A-01W T T C T T T Valid Valid Somatic Novel: Nucleotide Unknown NM_000321 Splice_Site e18+2 e18+2 RB1 5925 hgsc.bcm.edu 36 13 47928486 47928486 + Missense_Mutation SNP G C G Unknown Unknown TCGA-06-0213-01A-01W TCGA-06-0213-10A-01W G G C G G G Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000321 Missense p.V654L p.V654L RB_B RB1 5925 broad.mit.edu 36 13 47931824 47931824 + Splice_Site_SNP SNP G G T Unknown Unknown TCGA-06-0184-01A-01W TCGA-06-0184-10B-01W G G G T G G Unknown Valid Somatic Position Match: Nucleotide Unknown NM_000321 Splice_Site e20-1 e20-1 RB1 5925 broad.mit.edu 36 13 47931840 47931840 + Missense_Mutation SNP A A T Unknown Unknown TCGA-06-0184-01A-01W TCGA-06-0184-10B-01W A A T A A A Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000321 Missense p.Y659F p.Y659F RB_B RB1 5925 genome.wustl.edu 36 13 47931968 47931968 + Nonsense_Mutation SNP C C T Unknown Unknown TCGA-02-0033-01A-01W TCGA-02-0033-10A-01W C C C T C C Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_000321 Nonsense p.Q702* p.Q702* RB_B RB1 5925 genome.wustl.edu 36 13 47937375 47937375 + Nonsense_Mutation SNP C T T Unknown Unknown TCGA-02-0007-01A-01W TCGA-02-0007-10A-01W C C T T C C Valid Valid Somatic Match: Amino Acid Match: Amino Acid NM_000321 Nonsense p.R787* p.R787* Rb_C RB1 5925 broad.mit.edu 36 13 47945496 47945496 + Splice_Site_SNP SNP G C G Unknown Unknown TCGA-06-0206-01A-01W TCGA-06-0206-10A-01W G G C G G G Unknown Valid Somatic Novel: Nucleotide Unknown NM_000321 Splice_Site e24-1 e24-1 RINT1 60561 hgsc.bcm.edu 36 7 104994978 104994978 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_021930 Missense p.P788L p.P788L ROR2 4920 hgsc.bcm.edu 36 9 93527042 93527042 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_004560 Missense p.E519K p.E519K Pkinase_Tyr ROR2 4920 hgsc.bcm.edu 36 9 93535351 93535351 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W C C C T C C Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_004560 Missense p.A271T p.A271T Fz ROS1 6098 broad.mit.edu 36 6 117769074 117769074 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0089-01A-01W TCGA-02-0089-10A-01W C C T C C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_002944 Missense p.V1666I p.V1666I fn3 ROS1 6098 broad.mit.edu 36 6 117790458 117790458 + Splice_Site_SNP SNP C C T Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W C C T C C C Unknown Valid Somatic Novel: Nucleotide Unknown NM_002944 Splice_Site e21+1 e21+1 RPN1 6184 genome.wustl.edu 36 3 129846483 129846483 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0099-01A-01W TCGA-02-0099-10A-01W C C C T C C Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_002950 Missense p.E99K p.E99K Ribophorin_I RPS6KA3 6197 hgsc.bcm.edu 36 X 20103288 20103288 + Missense_Mutation SNP A T T Unknown Unknown TCGA-06-0157-01A-01W TCGA-06-0157-10A-01W A A A T A A Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_004586 Missense p.L381H p.L381H Pkinase:Pkinase_C RTN1 6252 broad.mit.edu 36 14 59263887 59263887 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0021-01A-01W TCGA-02-0021-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_021136 Missense p.A423V p.A423V RUNX1T1 862 broad.mit.edu 36 8 93157428 93157428 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_175634 Missense p.R10K p.R10K SEMA3B 7869 genome.wustl.edu 36 3 50288996 50288996 + Missense_Mutation SNP G A A Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G A G G G Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid ENST00000316347 Missense p.G701D p.G701D SERPINA3 12 genome.wustl.edu 36 14 94150664 94150664 + Missense_Mutation SNP G A G Unknown Unknown TCGA-06-0209-01A-01W TCGA-06-0209-10A-01W G G G A G G Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_001085 Missense p.V45M p.V45M Serpin SHH 6469 hgsc.bcm.edu 36 7 155288984 155288984 + Missense_Mutation SNP C C T Unknown Unknown TCGA-06-0124-01A-01W TCGA-06-0124-10A-01W C C C T C C Somatic Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_000193 Missense p.V254M p.V254M Hint SLC12A6 9990 hgsc.bcm.edu 36 15 32316305 32316305 + Missense_Mutation SNP C A C Unknown Unknown TCGA-06-0133-01A-01W TCGA-06-0133-10A-01W C C C A C C Somatic Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_005135 Missense p.D929Y p.D929Y SLC12A6 9990 hgsc.bcm.edu 36 15 32317006 32317006 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0102-01A-01W TCGA-02-0102-10A-01W G G G A G G Somatic Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_005135 Missense p.A896V p.A896V SLC25A13 10165 broad.mit.edu 36 7 95676178 95676178 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G A G G G Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid ENST00000265631 Missense p.P126S p.P126S SLC2A2 6514 broad.mit.edu 36 3 172205794 172205794 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0014-01A-01W TCGA-02-0014-10A-01W C C C T C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_000340 Missense p.A313T p.A313T Sugar_tr SMAD4 4089 broad.mit.edu 36 18 46858703 46858703 + Nonsense_Mutation SNP G A G Unknown Unknown TCGA-02-0028-01A-01W TCGA-02-0028-10A-01W G G G A G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_005359 Nonsense p.W509* p.W509* MH2 SNF1LK2 23235 broad.mit.edu 36 11 111095932 111095932 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_015191 Missense p.G497E p.G497E SNF1LK2 23235 broad.mit.edu 36 11 111096956 111096956 + Missense_Mutation SNP C C T Unknown Unknown TCGA-06-0176-01A-02W TCGA-06-0176-10A-01W C C T C C C Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_015191 Missense p.A635V p.A635V SNX13 23161 hgsc.bcm.edu 36 7 17881916 17881916 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Somatic Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_015132 Missense p.P155S p.P155S SOCS1 8651 genome.wustl.edu 36 16 11256592 11256592 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W C C C T C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_003745 Missense p.G82E p.G82E SH2 SOX11 6664 broad.mit.edu 36 2 5751538 5751538 + Nonsense_Mutation SNP G T T Unknown Unknown TCGA-06-0173-01A-01W TCGA-06-0173-10B-01W Unknown Unknown G T G G Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_003108 Nonsense p.E412* p.E412* SOX11 6664 broad.mit.edu 36 2 5751587 5751587 + Missense_Mutation SNP A A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W A A G A A A Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_003108 Missense p.D428G p.D428G SPARC 6678 broad.mit.edu 36 5 151029489 151029489 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid ENST00000231061 Missense p.A127V p.A127V Kazal_1 ST7 7982 broad.mit.edu 36 7 116546849 116546849 + Splice_Site_SNP SNP A A G Unknown Unknown TCGA-02-0021-01A-01W TCGA-02-0021-10A-01W A A G A A A Unknown Valid Somatic Novel: No Cosmic File Unknown NM_021908 Splice_Site e3-2 e3-2 STAT1 6772 hgsc.bcm.edu 36 2 191571219 191571219 + Missense_Mutation SNP T A T Unknown Unknown TCGA-06-0185-01A-01W TCGA-06-0185-10B-01W T T A T T T Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_007315 Missense p.K201M p.K201M STAT_alpha STAT3 6774 hgsc.bcm.edu 36 17 37735120 37735121 + Frame_Shift_Del Del AG AG - Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W AG AG AG - AG AG Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_003150 Frame_Shift_Del p.S405delCRIQTLDPEGAEMWEWGPSQL* p.S405fs STK36 27148 genome.wustl.edu 36 2 219249113 219249113 + Nonsense_Mutation SNP G A G Unknown Unknown TCGA-02-0014-01A-01W TCGA-02-0014-10A-01W G G A G G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid ENST00000295709 Nonsense p.W184* p.W184* Pkinase SYP 6855 broad.mit.edu 36 X 48935116 48935116 + Missense_Mutation SNP C T T Unknown Unknown TCGA-06-0157-01A-01W TCGA-06-0157-10A-01W C C C T C C Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_003179 Missense p.V222M p.V222M MARVEL TAF1 6872 hgsc.bcm.edu 36 X 70504111 70504111 + Missense_Mutation SNP G A G Unknown Unknown TCGA-06-0213-01A-01W TCGA-06-0213-10A-01W G G G A G G Wildtype Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_004606 Missense p.G73E p.G73E TBP-binding Validated_Somatic_Wildtype_Verification TAF1 6872 hgsc.bcm.edu 36 X 70591395 70591395 + Missense_Mutation SNP G C G Unknown Unknown TCGA-06-0176-01A-02W TCGA-06-0176-10A-01W G G C G G G Somatic Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_004606 Missense p.S1654T p.S1654T TAOK3 51347 broad.mit.edu 36 12 117103657 117103657 + Missense_Mutation SNP G A A Unknown Unknown TCGA-02-0075-01A-01W TCGA-02-0075-10A-01W G G A A G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_016281 Missense p.R490C p.R490C TBK1 29110 broad.mit.edu 36 12 63175611 63175611 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G G A G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_013254 Missense p.A535T p.A535T TCF12 6938 hgsc.bcm.edu 36 15 55330914 55330914 + Splice_Site_SNP SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G G A G G Unknown Valid Somatic Novel: Nucleotide Unknown NM_207036 Splice_Site e13+1 e13+1 TCF12 6938 hgsc.bcm.edu 36 15 55341606 55341607 + Frame_Shift_Del Del CT CT - Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W CT CT CT - CT CT Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_207036 Frame_Shift_Del p.S497delCQSQWQSFSPV* p.S497fs TCF12 6938 hgsc.bcm.edu 36 15 55342601 55342601 + Splice_Site_SNP SNP G C G Unknown Unknown TCGA-06-0128-01A-01W TCGA-06-0128-10A-01W G G G C G G Unknown Valid Somatic Novel: Nucleotide Unknown NM_207036 Splice_Site e17-1 e17-1 TERT 7015 genome.wustl.edu 36 5 1332521 1332521 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W C C C T C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_198255 Missense p.R672H p.R672H TERT 7015 genome.wustl.edu 36 5 1346683 1346683 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0043-01A-01W TCGA-02-0043-10A-01W C C C T C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_198255 Missense p.E440K p.E440K TGFBR2 7048 broad.mit.edu 36 3 30666785 30666785 + Missense_Mutation SNP A A T Unknown Unknown TCGA-02-0014-01A-01W TCGA-02-0014-10A-01W A A A T A A Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_001024847 Missense p.I120L p.I120L ecTbetaR2 TIMP2 7077 hgsc.bcm.edu 36 17 74363373 74363373 + Nonsense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Unknown Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_003255 Nonsense p.Q212* p.Q212* TNC 3371 broad.mit.edu 36 9 116837402 116837402 + Missense_Mutation SNP C C T Unknown Unknown TCGA-06-0188-01A-01W TCGA-06-0188-10B-01W C C C T C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_002160 Missense p.E1897K p.E1897K fn3 TNC 3371 broad.mit.edu 36 9 116878675 116878675 + Missense_Mutation SNP C T T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C T C C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_002160 Missense p.G892D p.G892D fn3 TNC 3371 broad.mit.edu 36 9 116888335 116888335 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W C C T C C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_002160 Missense p.R499H p.R499H EGF:EGF_2 TNFRSF11B 4982 hgsc.bcm.edu 36 8 120014420 120014420 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W G G G A G G Somatic Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_002546 Missense p.R111C p.R111C TNFR_c6 TNFRSF1B 7133 genome.wustl.edu 36 1 12175619 12175619 + Missense_Mutation SNP A A C Unknown Unknown TCGA-06-0126-01A-01W TCGA-06-0126-10A-01W A A Unknown Unknown Unknown Unknown Valid Unknown Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_001066 Missense p.T222P p.T222P TNK2 10188 broad.mit.edu 36 3 197096286 197096286 + Nonsense_Mutation SNP G A G Unknown Unknown TCGA-02-0043-01A-01W TCGA-02-0043-10A-01W G G G A G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_001010938 Nonsense p.R147* p.R147* TNK2 10188 broad.mit.edu 36 3 197098255 197098255 + Nonsense_Mutation SNP C T T Unknown Unknown TCGA-06-0189-01A-01W TCGA-06-0189-10A-01W C C C T C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_001010938 Nonsense p.W138* p.W138* TNK2 10188 broad.mit.edu 36 3 197106537 197106537 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0014-01A-01W TCGA-02-0014-10A-01W C C C T C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_001010938 Missense p.A50T p.A50T TOP1 7150 genome.wustl.edu 36 20 39177465 39177465 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_003286 Missense p.P560L p.P560L Topoisom_I TP53 7157 genome.wustl.edu 36 17 7514728 7514728 + Nonsense_Mutation SNP G A A Unknown Unknown TCGA-02-0024-01B-01W TCGA-02-0024-10A-01W G G A A G G Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_000546 Nonsense p.R342* p.R342* P53_tetramer TP53 7157 hgsc.bcm.edu 36 17 7517636 7517636 + Frame_Shift_Del Del G G - Unknown Unknown TCGA-06-0128-01A-01W TCGA-06-0128-10A-01W G G G - G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000546 Frame_Shift_Del p.S313delAPLPSQRRNHWMENISPFRSVGVSASRCSES* p.S313fs TP53 7157 genome.wustl.edu 36 17 7517651 7517651 + Missense_Mutation SNP G A G Unknown Unknown TCGA-06-0188-01A-01W TCGA-06-0188-10B-01W G G G A G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000546 Missense p.A307V p.A307V TP53 7157 genome.wustl.edu 36 17 7517652 7517652 + Splice_Site_SNP SNP C C T Unknown Unknown TCGA-06-0188-01A-01W TCGA-06-0188-10B-01W C C C T C C Valid Valid Somatic Novel: Nucleotide Unknown NM_000546 Splice_Site e8-1 e8-1 TP53 7157 genome.wustl.edu 36 17 7517819 7517819 + Missense_Mutation SNP G A G rs28934574 Unknown TCGA-02-0003-01A-01W TCGA-02-0003-10A-01W G G A G G G Unknown Valid Somatic Match: Amino Acid Match: Amino Acid NM_000546 Missense p.R282W p.R282W P53 TP53 7157 genome.wustl.edu 36 17 7517819 7517819 + Missense_Mutation SNP G A G rs28934574 Unknown TCGA-02-0046-01A-01W TCGA-02-0046-10A-01W G G A G G G Unknown Valid Somatic Match: Amino Acid Match: Amino Acid NM_000546 Missense p.R282W p.R282W P53 TP53 7157 genome.wustl.edu 36 17 7517821 7517821 + Missense_Mutation SNP T G T Unknown Unknown TCGA-06-0195-01B-01W TCGA-06-0195-10A-01W T T T G T T Valid Valid Somatic Position Match: Amino Acid Novel: Amino Acid NM_000546 Missense p.D281A p.D281A P53 TP53 7157 genome.wustl.edu 36 17 7517830 7517830 + Missense_Mutation SNP G C G Unknown Unknown TCGA-02-0001-01C-01W TCGA-02-0001-10A-01W G G G C G G Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_000546 Missense p.P278R p.P278R P53 TP53 7157 genome.wustl.edu 36 17 7517831 7517831 + Missense_Mutation SNP G A G rs17849781 Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_000546 Missense p.P278S p.P278S P53 TP53 7157 genome.wustl.edu 36 17 7517836 7517836 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G A G G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000546 Missense p.A276V p.A276V P53 TP53 7157 genome.wustl.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-06-0206-01A-01W TCGA-06-0206-10A-01W C C Unknown Unknown Unknown Unknown Valid Unknown Somatic Match: Amino Acid Match: Amino Acid NM_000546 Missense p.R273H p.R273H P53 TP53 7157 genome.wustl.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W G G Unknown Unknown Unknown Unknown Valid Unknown Somatic Match: Amino Acid Position Match: Amino Acid NM_000546 Missense p.R273C p.R273C P53 TP53 7157 genome.wustl.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A Unknown Unknown TCGA-02-0080-01A-01W TCGA-02-0080-10A-01W G G Unknown Unknown Unknown Unknown Valid Unknown Somatic Match: Amino Acid Position Match: Amino Acid NM_000546 Missense p.R273C p.R273C P53 TP53 7157 genome.wustl.edu 36 17 7517849 7517849 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0058-01A-01W TCGA-02-0058-10A-01W C C Unknown Unknown Unknown Unknown Valid Unknown Somatic Match: Amino Acid Position Match: Amino Acid NM_000546 Missense p.V272M p.V272M P53 TP53 7157 genome.wustl.edu 36 17 7517854 7517854 + Missense_Mutation SNP A A G Unknown Unknown TCGA-06-0197-01A-02W TCGA-06-0197-10A-01W A A Unknown Unknown Unknown Unknown Valid Unknown Somatic Novel: Amino Acid Novel: Amino Acid NM_000546 Missense p.F270S p.F270S P53 TP53 7157 genome.wustl.edu 36 17 7517867 7517867 + Missense_Mutation SNP C C T Unknown Unknown TCGA-06-0195-01B-01W TCGA-06-0195-10A-01W C C C T C C Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_000546 Missense p.G266R p.G266R P53 TP53 7157 genome.wustl.edu 36 17 7518234 7518234 + Missense_Mutation SNP C C G Unknown Unknown TCGA-02-0034-01A-01W TCGA-02-0034-10A-01W C C C G C C Valid Valid Somatic Position Match: Amino Acid Position Match: Amino Acid NM_000546 Missense p.E258Q p.E258Q P53 TP53 7157 genome.wustl.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 Unknown TCGA-02-0033-01A-01W TCGA-02-0033-10A-01W C C C T C C Unknown Valid Somatic Match: Amino Acid Match: Amino Acid NM_000546 Missense p.R248Q p.R248Q P53 TP53 7157 genome.wustl.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 Unknown TCGA-06-0241-01A-02W TCGA-06-0241-10A-01W C C T T C C Unknown Valid Somatic Match: Amino Acid Match: Amino Acid NM_000546 Missense p.R248Q p.R248Q P53 TP53 7157 genome.wustl.edu 36 17 7518273 7518273 + Missense_Mutation SNP C C T rs28934575 Unknown TCGA-06-0190-01A-01W TCGA-06-0190-10B-01W C C C T C C Valid Valid Somatic Match: Amino Acid Match: Amino Acid NM_000546 Missense p.G245S p.G245S P53 TP53 7157 genome.wustl.edu 36 17 7518303 7518303 + Missense_Mutation SNP T C C Unknown Unknown TCGA-02-0074-01A-01W TCGA-02-0074-10A-01W T T C C T T Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000546 Missense p.N235D p.N235D P53 TP53 7157 genome.wustl.edu 36 17 7518928 7518928 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0055-01A-01W TCGA-02-0055-10A-01W C C C T C C Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_000546 Missense p.V216M p.V216M P53 TP53 7157 genome.wustl.edu 36 17 7518937 7518937 + Nonsense_Mutation SNP G A G Unknown Unknown TCGA-02-0054-01A-01W TCGA-02-0054-10A-01W G G A G G G Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_000546 Nonsense p.R213* p.R213* P53 TP53 7157 genome.wustl.edu 36 17 7518974 7518975 + Frame_Shift_Del Del AT - 0 Unknown Unknown TCGA-02-0014-01A-01W TCGA-02-0014-10A-01W AT AT AT - AT AT Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000546 Frame_Shift_Del p.N200delIACGVFG* p.N200fs P53 TP53 7157 genome.wustl.edu 36 17 7518990 7518990 + Missense_Mutation SNP A A G Unknown Unknown TCGA-06-0237-01A-02W TCGA-06-0237-10A-01W A A A G A A Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_000546 Missense p.I195T p.I195T P53 TP53 7157 genome.wustl.edu 36 17 7519120 7519120 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0089-01A-01W TCGA-02-0089-10A-01W G G A G G G Valid Valid Somatic Position Match: Amino Acid Novel: Amino Acid NM_000546 Missense p.H179Y p.H179Y P53 TP53 7157 genome.wustl.edu 36 17 7519121 7519121 + Missense_Mutation SNP G G T Unknown Unknown TCGA-02-0003-01A-01W TCGA-02-0003-10A-01W G G G T G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000546 Missense p.H178Q p.H178Q P53 TP53 7157 genome.wustl.edu 36 17 7519126 7519126 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0046-01A-01W TCGA-02-0046-10A-01W G G A G G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000546 Missense p.P177S p.P177S P53 TP53 7157 genome.wustl.edu 36 17 7519128 7519128 + Missense_Mutation SNP C T T Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W C C T T C C Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_000546 Missense p.C176Y p.C176Y P53 TP53 7157 genome.wustl.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W C C C T C C Valid Valid Somatic Match: Amino Acid Match: Amino Acid NM_000546 Missense p.R175H p.R175H P53 TP53 7157 genome.wustl.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-02-0037-01A-01W TCGA-02-0037-10A-01W C C C T C C Valid Valid Somatic Match: Amino Acid Match: Amino Acid NM_000546 Missense p.R175H p.R175H P53 TP53 7157 genome.wustl.edu 36 17 7519132 7519132 + Missense_Mutation SNP G C C Unknown Unknown TCGA-02-0011-01B-01W TCGA-02-0011-10A-01W G G G C G G Valid Valid Somatic Position Match: Amino Acid Position Match: Amino Acid NM_000546 Missense p.R175G p.R175G P53 TP53 7157 genome.wustl.edu 36 17 7519182 7519182 + Missense_Mutation SNP C C T Unknown Unknown TCGA-06-0130-01A-01W TCGA-06-0130-10A-01W C C C T C C Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_000546 Missense p.R158H p.R158H P53 TP53 7157 genome.wustl.edu 36 17 7519182 7519182 + Missense_Mutation SNP C C T Unknown Unknown TCGA-06-0184-01A-01W TCGA-06-0184-10B-01W C C C T C C Valid Valid Somatic Match: Amino Acid Novel: Amino Acid NM_000546 Missense p.R158H p.R158H P53 TP53 7157 genome.wustl.edu 36 17 7519237 7519238 + Frame_Shift_Del Del TC - 0 Unknown Unknown TCGA-06-0221-01A-01W TCGA-06-0221-10A-01W TC TC TC - TC TC Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_000546 Frame_Shift_Del p.K139delNLPCAAVG* p.K139fs P53 TP53 7157 hgsc.bcm.edu 36 17 7519251 7519251 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0034-01A-01W TCGA-02-0034-10A-01W C C C T C C Unknown Valid Somatic Position Match: Amino Acid Novel: Amino Acid NM_000546 Missense p.C135Y p.C135Y P53 TP53 7157 genome.wustl.edu 36 17 7519267 7519267 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0075-01A-01W TCGA-02-0075-10A-01W G G A G G G Valid Valid Somatic Position Match: Amino Acid Novel: Amino Acid NM_000546 Missense p.L130F p.L130F P53 TP53 7157 hgsc.bcm.edu 36 17 7520118 7520122 + Frame_Shift_Del Del AGGGA AGGGA - Unknown Unknown TCGA-06-0156-01A-01W TCGA-06-0156-10A-01W AGGGA AGGGA AGGGA - AGGGA AGGGA Unknown Valid Somatic Position Match: Amino Acid Novel: Amino Acid NM_000546 Frame_Shift_Del p.S99delENLPGQLRFPSGLLAFWDSQVCDLHVLPCPQQDVLPTGQDLPCAAVG* p.S99fs P53 TRIM2 23321 hgsc.bcm.edu 36 4 154436236 154436236 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0058-01A-01W TCGA-02-0058-10A-01W C C Unknown Unknown C C Somatic Unknown Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_015271 Missense p.P343S p.P343S Filamin Unvalidated_Verification_Somatic TRIM24 8805 hgsc.bcm.edu 36 7 137886376 137886376 + Missense_Mutation SNP G A G Unknown Unknown TCGA-06-0171-01A-02W TCGA-06-0171-10A-01W G G G A G G Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_015905 Missense p.R391H p.R391H TRIM3 10612 broad.mit.edu 36 11 6426862 6426862 + Missense_Mutation SNP C C T Unknown Unknown TCGA-06-0122-01A-01W TCGA-06-0122-10A-01W C C T C C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_006458 Missense p.C736Y p.C736Y NHL TRIM3 10612 broad.mit.edu 36 11 6434421 6434421 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C T C C C Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_006458 Missense p.G371S p.G371S Filamin TRIM33 51592 broad.mit.edu 36 1 114742087 114742087 + Nonsense_Mutation SNP T A T Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W Unknown Unknown T A T T Unknown Valid Somatic Novel: Amino Acid Novel: Amino Acid NM_015906 Nonsense p.K1057* p.K1057* TRRAP 8295 genome.wustl.edu 36 7 98391837 98391837 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G A G G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid ENST00000359863 Missense p.E2017K c.6049 TRRAP 8295 genome.wustl.edu 36 7 98400280 98400280 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0099-01A-01W TCGA-02-0099-10A-01W G G G A G G Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid ENST00000359863 Missense p.V2301I p.V2301I TRRAP 8295 genome.wustl.edu 36 7 98447697 98447697 + Missense_Mutation SNP A A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W A A A G A A Valid Valid Somatic Novel: Amino Acid Novel: Amino Acid ENST00000359863 Missense p.D3788G p.D3788G TSC1 7248 genome.wustl.edu 36 9 134761810 134761810 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W C C C T C C Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_000368 Missense p.S1043N p.S1043N TSC2 7249 genome.wustl.edu 36 16 2038750 2038750 + Missense_Mutation SNP C A C Unknown Unknown TCGA-02-0047-01A-01W TCGA-02-0047-10A-01W C C A C C C Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_000548 Missense p.L45M p.L45M TSC2 7249 genome.wustl.edu 36 16 2064367 2064367 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W G G A G G G Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_000548 Missense p.V841I p.V841I Tuberin TSC2 7249 genome.wustl.edu 36 16 2070190 2070190 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0010-01A-01W TCGA-02-0010-10A-01W G G A G G G Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_000548 Missense p.A1141T p.A1141T UNG 7374 hgsc.bcm.edu 36 12 108019967 108019967 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W G G G A G G Somatic Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_080911 Missense p.A34T p.A34T UPF2 26019 broad.mit.edu 36 10 12038348 12038348 + Missense_Mutation SNP C T T Unknown Unknown TCGA-02-0083-01A-01W TCGA-02-0083-10A-01W C C C T C C Unknown Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_015542 Missense p.E851K p.E851K MIF4G VAV2 7410 genome.wustl.edu 36 9 135631024 135631024 + Splice_Site_SNP SNP C C T Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W C C C T C C Valid Valid Somatic Novel: No Cosmic Nucleotide Unknown NM_003371 Splice_Site e22-1 e22-1 WEE1 7465 hgsc.bcm.edu 36 11 9552534 9552534 + Missense_Mutation SNP G A G Unknown Unknown TCGA-06-0190-01A-01W TCGA-06-0190-10B-01W G G Unknown Unknown Unknown Unknown Somatic Unknown Somatic Novel: Amino Acid Novel: Amino Acid NM_003390 Missense p.G160S p.G160S Unvalidated_Verification_Somatic WNT2 7472 hgsc.bcm.edu 36 7 116705516 116705516 + Missense_Mutation SNP C C T Unknown Unknown TCGA-02-0099-01A-01W TCGA-02-0099-10A-01W C C C T C C Somatic Valid Somatic Novel: No Cosmic File Novel: Amino Acid NM_003391 Missense p.D338N p.D338N wnt ZEB1 6935 genome.wustl.edu 36 10 31831344 31831344 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G A G G G Valid Valid Somatic Novel: No Cosmic File Novel: Amino Acid ENST00000320985 Missense p.E128K c.382 ZNF384 171017 genome.wustl.edu 36 12 6647395 6647395 + Missense_Mutation SNP C T T Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W C C C T C C Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_001039917 Missense p.A433T p.A433T ZNF384 171017 genome.wustl.edu 36 12 6652748 6652748 + Missense_Mutation SNP G A G Unknown Unknown TCGA-02-0114-01A-01W TCGA-02-0114-10A-01W G G A G G G Valid Valid Somatic Novel: No Cosmic AminoAcid Novel: Amino Acid NM_001039917 Missense p.S269F p.S269F