Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 17 56051894 56051894 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 g.chr17:56051894C>T c.1506G>A c.(1504-1506)atG>atA p.M502I BLCA 17 56052126 56052126 + Missense_Mutation SNP C C T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr17:56052126C>T c.1274G>A c.(1273-1275)aGa>aAa p.R425K BLCA 17 56056663 56056663 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 g.chr17:56056663C>T c.988G>A c.(988-990)Gaa>Aaa p.E330K BLCA 17 56060115 56060115 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 g.chr17:56060115C>T c.673G>A c.(673-675)Gaa>Aaa p.E225K BLCA 17 56060586 56060587 + Frame_Shift_Ins INS - - T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr17:56060586_56060587insT c.201_202insA c.(199-204)aaagaafs p.E68fs BLCA 17 56060619 56060619 + Missense_Mutation SNP C C G TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr17:56060619C>G c.169G>C c.(169-171)Gaa>Caa p.E57Q BRCA 17 56056610 56056610 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr17:56056610C>T c.1041G>A c.(1039-1041)caG>caA p.Q347Q BRCA 17 56060288 56060288 + Missense_Mutation SNP C C G TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 g.chr17:56060288C>G c.500G>C c.(499-501)aGt>aCt p.S167T COAD 17 56051937 56051937 + Missense_Mutation SNP A A T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:56051937A>T c.1463T>A c.(1462-1464)cTa>cAa p.L488Q COAD 17 56056657 56056657 + Missense_Mutation SNP T T C TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr17:56056657T>C c.994A>G c.(994-996)Acc>Gcc p.T332A COAD 17 56056657 56056657 + Missense_Mutation SNP T T C TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr17:56056657T>C c.994A>G c.(994-996)Acc>Gcc p.T332A COAD 17 56058047 56058047 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr17:56058047G>A c.893C>T c.(892-894)gCa>gTa p.A298V COAD 17 56060166 56060166 + Missense_Mutation SNP T T C TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr17:56060166T>C c.622A>G c.(622-624)Aat>Gat p.N208D COAD 17 56060277 56060277 + Missense_Mutation SNP T T C TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr17:56060277T>C c.511A>G c.(511-513)Aag>Gag p.K171E COAD 17 56060347 56060347 + Silent SNP G G A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr17:56060347G>A c.441C>T c.(439-441)aaC>aaT p.N147N COAD 17 56060390 56060390 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr17:56060390G>A c.398C>T c.(397-399)gCa>gTa p.A133V COADREAD 17 56051937 56051937 + Missense_Mutation SNP A A T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:56051937A>T c.1463T>A c.(1462-1464)cTa>cAa p.L488Q COADREAD 17 56056657 56056657 + Missense_Mutation SNP T T C TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr17:56056657T>C c.994A>G c.(994-996)Acc>Gcc p.T332A COADREAD 17 56056657 56056657 + Missense_Mutation SNP T T C TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr17:56056657T>C c.994A>G c.(994-996)Acc>Gcc p.T332A COADREAD 17 56056657 56056657 + Missense_Mutation SNP T T C TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr17:56056657T>C c.994A>G c.(994-996)Acc>Gcc p.T332A COADREAD 17 56058047 56058047 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr17:56058047G>A c.893C>T c.(892-894)gCa>gTa p.A298V COADREAD 17 56060166 56060166 + Missense_Mutation SNP T T C TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr17:56060166T>C c.622A>G c.(622-624)Aat>Gat p.N208D COADREAD 17 56060277 56060277 + Missense_Mutation SNP T T C TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr17:56060277T>C c.511A>G c.(511-513)Aag>Gag p.K171E COADREAD 17 56060347 56060347 + Silent SNP G G A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr17:56060347G>A c.441C>T c.(439-441)aaC>aaT p.N147N COADREAD 17 56060390 56060390 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr17:56060390G>A c.398C>T c.(397-399)gCa>gTa p.A133V DLBC 17 56058015 56058016 + Frame_Shift_Ins INS - - T TCGA-FF-A7CX-01A-12D-A382-10 TCGA-FF-A7CX-10A-01D-A385-10 g.chr17:56058015_56058016insT c.924_925insA c.(922-927)catgggfs p.G309fs DLBC 17 56058016 56058016 + Missense_Mutation SNP A A T TCGA-FF-A7CX-01A-12D-A382-10 TCGA-FF-A7CX-10A-01D-A385-10 g.chr17:56058016A>T c.924T>A c.(922-924)caT>caA p.H308Q ESCA 17 56052100 56052100 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr17:56052100C>A c.1300G>T c.(1300-1302)Gtt>Ttt p.V434F ESCA 17 56056642 56056642 + Missense_Mutation SNP G G T TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 g.chr17:56056642G>T c.1009C>A c.(1009-1011)Cag>Aag p.Q337K ESCA 17 56060674 56060674 + Silent SNP A A C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr17:56060674A>C c.114T>G c.(112-114)ccT>ccG p.P38P GBM 17 56060219 56060219 + Missense_Mutation SNP T T C TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 g.chr17:56060219T>C c.569A>G c.(568-570)aAt>aGt p.N190S GBMLGG 17 56051876 56051876 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:56051876C>T c.1524G>A c.(1522-1524)atG>atA p.M508I GBMLGG 17 56060219 56060219 + Missense_Mutation SNP T T C TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 g.chr17:56060219T>C c.569A>G c.(568-570)aAt>aGt p.N190S GBMLGG 17 56060664 56060664 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:56060664G>T c.124C>A c.(124-126)Cca>Aca p.P42T GBMLGG 17 56060673 56060673 + Missense_Mutation SNP C C G TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 g.chr17:56060673C>G c.115G>C c.(115-117)Gat>Cat p.D39H HNSC 17 56056587 56056589 + In_Frame_Del DEL TGT TGT - TCGA-CN-4725-01A-01D-1434-08 TCGA-CN-4725-10A-01D-1434-08 g.chr17:56056587_56056589delTGT c.1062_1064delACA c.(1060-1065)caacat>cat p.Q354del HNSC 17 56056587 56056589 + In_Frame_Del DEL TGT TGT - TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 g.chr17:56056587_56056589delTGT c.1062_1064delACA c.(1060-1065)caacat>cat p.Q354del HNSC 17 56056587 56056589 + In_Frame_Del DEL TGT TGT - TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 g.chr17:56056587_56056589delTGT c.1062_1064delACA c.(1060-1065)caacat>cat p.Q354del HNSC 17 56056587 56056589 + In_Frame_Del DEL TGT TGT - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 g.chr17:56056587_56056589delTGT c.1062_1064delACA c.(1060-1065)caacat>cat p.Q354del HNSC 17 56058054 56058054 + Silent SNP G G A TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr17:56058054G>A c.886C>T c.(886-888)Ctg>Ttg p.L296L HNSC 17 56059289 56059290 + Frame_Shift_Ins INS - - GGTCA TCGA-MT-A67A-01A-11D-A30E-08 TCGA-MT-A67A-10A-01D-A30H-08 g.chr17:56059289_56059290insGGTCA c.736_737insTGACC c.(736-738)cacfs p.H246fs HNSC 17 56060120 56060120 + Missense_Mutation SNP G G C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 g.chr17:56060120G>C c.668C>G c.(667-669)tCt>tGt p.S223C HNSC 17 56060238 56060238 + Nonsense_Mutation SNP G G A TCGA-CV-6941-01A-11D-1912-08 TCGA-CV-6941-10A-01D-1912-08 g.chr17:56060238G>A c.550C>T c.(550-552)Cga>Tga p.R184* HNSC 17 56060673 56060674 + Frame_Shift_Ins INS - - G TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr17:56060673_56060674insG c.114_115insC c.(112-117)cctgatfs p.D39fs KIPAN 17 56058037 56058037 + Silent SNP G G T TCGA-BP-4985-01A-01D-1462-08 TCGA-BP-4985-11A-01D-1462-08 g.chr17:56058037G>T c.903C>A c.(901-903)atC>atA p.I301I KIPAN 17 56060482 56060482 + Silent SNP C C T TCGA-BP-5200-01A-01D-1429-08 TCGA-BP-5200-11A-01D-1429-08 g.chr17:56060482C>T c.306G>A c.(304-306)gtG>gtA p.V102V KIRC 17 56058037 56058037 + Silent SNP G G T TCGA-BP-4985-01A-01D-1462-08 TCGA-BP-4985-11A-01D-1462-08 g.chr17:56058037G>T c.903C>A c.(901-903)atC>atA p.I301I KIRC 17 56060482 56060482 + Silent SNP C C T TCGA-BP-5200-01A-01D-1429-08 TCGA-BP-5200-11A-01D-1429-08 g.chr17:56060482C>T c.306G>A c.(304-306)gtG>gtA p.V102V LGG 17 56051876 56051876 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:56051876C>T c.1524G>A c.(1522-1524)atG>atA p.M508I LGG 17 56060664 56060664 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:56060664G>T c.124C>A c.(124-126)Cca>Aca p.P42T LGG 17 56060673 56060673 + Missense_Mutation SNP C C G TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 g.chr17:56060673C>G c.115G>C c.(115-117)Gat>Cat p.D39H LIHC 17 56052168 56052168 + Missense_Mutation SNP G G C TCGA-DD-A11B-01A-11D-A12Z-10 TCGA-DD-A11B-11A-11D-A12Z-10 g.chr17:56052168G>C c.1232C>G c.(1231-1233)aCt>aGt p.T411S LIHC 17 56056598 56056598 + Silent SNP T T C TCGA-BC-A3KF-01A-11D-A20W-10 TCGA-BC-A3KF-10A-01D-A20W-10 g.chr17:56056598T>C c.1053A>G c.(1051-1053)caA>caG p.Q351Q LIHC 17 56056601 56056601 + Silent SNP T T C TCGA-BC-A3KF-01A-11D-A20W-10 TCGA-BC-A3KF-10A-01D-A20W-10 g.chr17:56056601T>C c.1050A>G c.(1048-1050)caA>caG p.Q350Q LIHC 17 56056601 56056601 + Silent SNP T T C TCGA-EP-A26S-01A-11D-A16V-10 TCGA-EP-A26S-10A-01D-A16V-10 g.chr17:56056601T>C c.1050A>G c.(1048-1050)caA>caG p.Q350Q LIHC 17 56056622 56056622 + Silent SNP C C T TCGA-FV-A4ZP-01A-12D-A25V-10 TCGA-FV-A4ZP-11A-12D-A25V-10 g.chr17:56056622C>T c.1029G>A c.(1027-1029)caG>caA p.Q343Q LIHC 17 56060489 56060489 + Missense_Mutation SNP T T G TCGA-DD-AADG-01A-11D-A40R-10 TCGA-DD-AADG-10A-01D-A40U-10 g.chr17:56060489T>G c.299A>C c.(298-300)aAg>aCg p.K100T LUAD 17 56058018 56058018 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr17:56058018G>C c.922C>G c.(922-924)Cat>Gat p.H308D LUAD 17 56060145 56060145 + Missense_Mutation SNP C C A TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr17:56060145C>A c.643G>T c.(643-645)Gac>Tac p.D215Y LUAD 17 56060314 56060314 + Silent SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 g.chr17:56060314T>C c.474A>G c.(472-474)ccA>ccG p.P158P LUAD 17 56060466 56060466 + Missense_Mutation SNP T T G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 g.chr17:56060466T>G c.322A>C c.(322-324)Acc>Ccc p.T108P LUAD 17 56060517 56060517 + Missense_Mutation SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 g.chr17:56060517G>A c.271C>T c.(271-273)Cgc>Tgc p.R91C LUAD 17 56060700 56060700 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr17:56060700G>C c.88C>G c.(88-90)Ctc>Gtc p.L30V LUSC 17 56051849 56051849 + Silent SNP T T C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 g.chr17:56051849T>C c.1551A>G c.(1549-1551)acA>acG p.T517T LUSC 17 56051910 56051934 + Frame_Shift_Del DEL GGGGCGGCTAATGTCATAGGTGTGG GGGGCGGCTAATGTCATAGGTGTGG - TCGA-22-4591-01A-01D-1267-08 TCGA-22-4591-11A-01D-1267-08 g.chr17:56051910_56051934delGGGGCGGCTAATGTCATAGGTGTGG c.1466_1490delCCACACCTATGACATTAGCCGCCCC c.(1465-1491)cccacacctatgacattagccgcccctfs p.PTPMTLAAP489fs LUSC 17 56052036 56052036 + Missense_Mutation SNP G G A TCGA-60-2713-01A-01D-1522-08 TCGA-60-2713-11A-01D-1522-08 g.chr17:56052036G>A c.1364C>T c.(1363-1365)aCc>aTc p.T455I LUSC 17 56060750 56060750 + Missense_Mutation SNP T T C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 g.chr17:56060750T>C c.38A>G c.(37-39)cAt>cGt p.H13R OV 17 56056655 56056655 + Silent SNP G G A TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 g.chr17:56056655G>A c.996C>T c.(994-996)acC>acT p.T332T OV 17 56060253 56060253 + Missense_Mutation SNP A A G TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 g.chr17:56060253A>G c.535T>C c.(535-537)Tgt>Cgt p.C179R PAAD 17 56056587 56056589 + In_Frame_Del DEL TGT TGT - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 g.chr17:56056587_56056589delTGT c.1062_1064delACA c.(1060-1065)caacat>cat p.Q354del PAAD 17 56058141 56058141 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:56058141T>C c.799A>G c.(799-801)Act>Gct p.T267A PAAD 17 56060674 56060674 + Frame_Shift_Del DEL A A - TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 g.chr17:56060674delA c.114delT c.(112-114)cctfs p.P38fs PRAD 17 56060232 56060232 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:56060232C>T c.556G>A c.(556-558)Gtg>Atg p.V186M PRAD 17 56060635 56060635 + Frame_Shift_Del DEL T T - TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 g.chr17:56060635delT c.153delA c.(151-153)aaafs p.K51fs READ 17 56056657 56056657 + Missense_Mutation SNP T T C TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr17:56056657T>C c.994A>G c.(994-996)Acc>Gcc p.T332A SKCM 17 56051965 56051965 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr17:56051965G>A c.1435C>T c.(1435-1437)Cct>Tct p.P479S SKCM 17 56051966 56051966 + Silent SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr17:56051966G>A c.1434C>T c.(1432-1434)caC>caT p.H478H SKCM 17 56058015 56058015 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr17:56058015C>G c.925G>C c.(925-927)Ggg>Cgg p.G309R SKCM 17 56060475 56060476 + Frame_Shift_Ins INS - - C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr17:56060475_56060476insC c.312_313insG c.(310-315)cggccafs p.P105fs SKCM 17 56060513 56060513 + Missense_Mutation SNP T T A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 g.chr17:56060513T>A c.275A>T c.(274-276)cAc>cTc p.H92L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 17 56056586 56056586 insertion of <=200bp - TGT downstream_gene_variant BLCA-US 17 56056586 56056586 insertion of <=200bp - TGT inframe_insertion H173HT BLCA-US 17 56056586 56056586 insertion of <=200bp - TGT inframe_insertion H346HT BLCA-US 17 56056586 56056586 insertion of <=200bp - TGT inframe_insertion H355HT BLCA-US 17 56056663 56056663 single base substitution C T downstream_gene_variant BLCA-US 17 56056663 56056663 single base substitution C T missense_variant E148K 442G>A BLCA-US 17 56056663 56056663 single base substitution C T missense_variant E321K 961G>A BLCA-US 17 56056663 56056663 single base substitution C T missense_variant E330K 988G>A BLCA-US 17 56060115 56060115 single base substitution C T downstream_gene_variant BLCA-US 17 56060115 56060115 single base substitution C T missense_variant E216K 646G>A BLCA-US 17 56060115 56060115 single base substitution C T missense_variant E225K 673G>A BLCA-US 17 56060115 56060115 single base substitution C T missense_variant E37K 109G>A BRCA-EU 17 56044985 56044985 single base substitution C T downstream_gene_variant BRCA-EU 17 56045384 56045384 single base substitution G A downstream_gene_variant BRCA-EU 17 56046474 56046474 insertion of <=200bp - T downstream_gene_variant BRCA-EU 17 56048392 56048392 single base substitution C G downstream_gene_variant BRCA-EU 17 56049142 56049143 deletion of <=200bp CT - 3_prime_UTR_variant BRCA-EU 17 56049142 56049143 deletion of <=200bp CT - downstream_gene_variant BRCA-EU 17 56050705 56050705 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 56050705 56050705 single base substitution G A downstream_gene_variant BRCA-EU 17 56050760 56050760 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 56050760 56050760 single base substitution C G downstream_gene_variant BRCA-EU 17 56050898 56050899 deletion of <=200bp GA - 3_prime_UTR_variant BRCA-EU 17 56050898 56050899 deletion of <=200bp GA - downstream_gene_variant BRCA-EU 17 56051938 56051938 single base substitution G C missense_variant L306V 916C>G BRCA-EU 17 56051938 56051938 single base substitution G C missense_variant L479V 1435C>G BRCA-EU 17 56051938 56051938 single base substitution G C missense_variant L488V 1462C>G BRCA-EU 17 56053167 56053167 deletion of <=200bp T - intron_variant BRCA-EU 17 56053335 56053335 insertion of <=200bp - T intron_variant BRCA-EU 17 56053372 56053372 single base substitution C G intron_variant BRCA-EU 17 56056538 56056538 single base substitution T C downstream_gene_variant BRCA-EU 17 56056538 56056538 single base substitution T C synonymous_variant E189E 567A>G BRCA-EU 17 56056538 56056538 single base substitution T C synonymous_variant E362E 1086A>G BRCA-EU 17 56056538 56056538 single base substitution T C synonymous_variant E371E 1113A>G BRCA-EU 17 56056779 56056779 single base substitution G C downstream_gene_variant BRCA-EU 17 56056779 56056779 single base substitution G C intron_variant BRCA-EU 17 56059173 56059173 single base substitution C G downstream_gene_variant BRCA-EU 17 56059173 56059173 single base substitution C G intron_variant BRCA-EU 17 56059425 56059425 single base substitution C T downstream_gene_variant BRCA-EU 17 56059425 56059425 single base substitution C T intron_variant BRCA-EU 17 56061000 56061000 single base substitution T A intron_variant BRCA-EU 17 56061000 56061000 single base substitution T A upstream_gene_variant BRCA-EU 17 56063557 56063557 single base substitution G A intron_variant BRCA-EU 17 56063557 56063557 single base substitution G A upstream_gene_variant BRCA-EU 17 56063729 56063729 single base substitution T C intron_variant BRCA-EU 17 56063729 56063729 single base substitution T C upstream_gene_variant BRCA-EU 17 56064105 56064105 single base substitution C G intron_variant BRCA-EU 17 56064105 56064105 single base substitution C G upstream_gene_variant BRCA-EU 17 56064173 56064173 single base substitution C G intron_variant BRCA-EU 17 56064173 56064173 single base substitution C G upstream_gene_variant BRCA-EU 17 56064238 56064238 single base substitution C T intron_variant BRCA-EU 17 56064238 56064238 single base substitution C T upstream_gene_variant BRCA-EU 17 56064853 56064853 single base substitution G A intron_variant BRCA-EU 17 56064853 56064853 single base substitution G A upstream_gene_variant BRCA-EU 17 56064906 56064906 single base substitution G A intron_variant BRCA-EU 17 56064906 56064906 single base substitution G A upstream_gene_variant BRCA-EU 17 56065641 56065641 single base substitution C T upstream_gene_variant BRCA-EU 17 56065895 56065895 single base substitution C T upstream_gene_variant BRCA-EU 17 56065905 56065905 single base substitution G T upstream_gene_variant BRCA-EU 17 56066104 56066104 single base substitution C T upstream_gene_variant BRCA-EU 17 56066421 56066421 single base substitution T A upstream_gene_variant BRCA-EU 17 56067714 56067714 single base substitution C T upstream_gene_variant BRCA-EU 17 56067743 56067743 single base substitution C A upstream_gene_variant BRCA-EU 17 56067757 56067757 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 56068295 56068295 single base substitution C T upstream_gene_variant BRCA-EU 17 56068591 56068591 single base substitution C G upstream_gene_variant BRCA-EU 17 56070550 56070550 single base substitution G C upstream_gene_variant BRCA-FR 17 56062725 56062725 single base substitution G A intron_variant BRCA-FR 17 56062725 56062725 single base substitution G A upstream_gene_variant BRCA-FR 17 56064105 56064105 single base substitution C G intron_variant BRCA-FR 17 56064105 56064105 single base substitution C G upstream_gene_variant BRCA-FR 17 56064173 56064173 single base substitution C G intron_variant BRCA-FR 17 56064173 56064173 single base substitution C G upstream_gene_variant BRCA-FR 17 56064238 56064238 single base substitution C T intron_variant BRCA-FR 17 56064238 56064238 single base substitution C T upstream_gene_variant BRCA-FR 17 56065589 56065589 single base substitution C G 5_prime_UTR_variant BRCA-FR 17 56065589 56065589 single base substitution C G upstream_gene_variant BRCA-FR 17 56065641 56065641 single base substitution C T upstream_gene_variant BRCA-FR 17 56068295 56068295 single base substitution C T upstream_gene_variant BRCA-FR 17 56068486 56068486 single base substitution G A upstream_gene_variant BRCA-KR 17 56059313 56059313 single base substitution T C downstream_gene_variant BRCA-KR 17 56059313 56059313 single base substitution T C intron_variant BRCA-UK 17 56053251 56053251 single base substitution C T intron_variant BRCA-US 17 56056604 56056604 insertion of <=200bp - TGC downstream_gene_variant BRCA-US 17 56056604 56056604 insertion of <=200bp - TGC inframe_insertion Q167QA BRCA-US 17 56056604 56056604 insertion of <=200bp - TGC inframe_insertion Q340QA BRCA-US 17 56056604 56056604 insertion of <=200bp - TGC inframe_insertion Q349QA BRCA-US 17 56056610 56056610 single base substitution C T downstream_gene_variant BRCA-US 17 56056610 56056610 single base substitution C T synonymous_variant Q165Q 495G>A BRCA-US 17 56056610 56056610 single base substitution C T synonymous_variant Q338Q 1014G>A BRCA-US 17 56056610 56056610 single base substitution C T synonymous_variant Q347Q 1041G>A BRCA-US 17 56060288 56060288 single base substitution C G missense_variant S11T 32G>C BRCA-US 17 56060288 56060288 single base substitution C G missense_variant S158T 473G>C BRCA-US 17 56060288 56060288 single base substitution C G missense_variant S167T 500G>C BRCA-US 17 56060288 56060288 single base substitution C G upstream_gene_variant BTCA-JP 17 56056607 56056607 single base substitution C T downstream_gene_variant BTCA-JP 17 56056607 56056607 single base substitution C T synonymous_variant Q166Q 498G>A BTCA-JP 17 56056607 56056607 single base substitution C T synonymous_variant Q339Q 1017G>A BTCA-JP 17 56056607 56056607 single base substitution C T synonymous_variant Q348Q 1044G>A BTCA-JP 17 56056729 56056729 single base substitution T G downstream_gene_variant BTCA-JP 17 56056729 56056729 single base substitution T G intron_variant COAD-US 17 56051937 56051937 single base substitution A T missense_variant L306Q 917T>A COAD-US 17 56051937 56051937 single base substitution A T missense_variant L479Q 1436T>A COAD-US 17 56051937 56051937 single base substitution A T missense_variant L488Q 1463T>A COAD-US 17 56056550 56056550 single base substitution C G downstream_gene_variant COAD-US 17 56056550 56056550 single base substitution C G synonymous_variant L185L 555G>C COAD-US 17 56056550 56056550 single base substitution C G synonymous_variant L358L 1074G>C COAD-US 17 56056550 56056550 single base substitution C G synonymous_variant L367L 1101G>C COAD-US 17 56056604 56056604 insertion of <=200bp - TGC downstream_gene_variant COAD-US 17 56056604 56056604 insertion of <=200bp - TGC inframe_insertion Q167QA COAD-US 17 56056604 56056604 insertion of <=200bp - TGC inframe_insertion Q340QA COAD-US 17 56056604 56056604 insertion of <=200bp - TGC inframe_insertion Q349QA COAD-US 17 56056604 56056604 insertion of <=200bp - TGTTGC downstream_gene_variant COAD-US 17 56056604 56056604 insertion of <=200bp - TGTTGC inframe_insertion Q167QAT COAD-US 17 56056604 56056604 insertion of <=200bp - TGTTGC inframe_insertion Q340QAT COAD-US 17 56056604 56056604 insertion of <=200bp - TGTTGC inframe_insertion Q349QAT COAD-US 17 56056605 56056619 deletion of <=200bp TGCTGCTGCTGCTGC - disruptive_inframe_deletion QQQQQQ162Q COAD-US 17 56056605 56056619 deletion of <=200bp TGCTGCTGCTGCTGC - disruptive_inframe_deletion QQQQQQ335Q COAD-US 17 56056605 56056619 deletion of <=200bp TGCTGCTGCTGCTGC - disruptive_inframe_deletion QQQQQQ344Q COAD-US 17 56056605 56056619 deletion of <=200bp TGCTGCTGCTGCTGC - downstream_gene_variant COAD-US 17 56058047 56058047 single base substitution G A downstream_gene_variant COAD-US 17 56058047 56058047 single base substitution G A missense_variant A116V 347C>T COAD-US 17 56058047 56058047 single base substitution G A missense_variant A289V 866C>T COAD-US 17 56058047 56058047 single base substitution G A missense_variant A298V 893C>T COAD-US 17 56060166 56060166 single base substitution T C downstream_gene_variant COAD-US 17 56060166 56060166 single base substitution T C missense_variant N199D 595A>G COAD-US 17 56060166 56060166 single base substitution T C missense_variant N208D 622A>G COAD-US 17 56060166 56060166 single base substitution T C missense_variant N20D 58A>G COAD-US 17 56060215 56060215 single base substitution T C downstream_gene_variant COAD-US 17 56060215 56060215 single base substitution T C synonymous_variant R182R 546A>G COAD-US 17 56060215 56060215 single base substitution T C synonymous_variant R191R 573A>G COAD-US 17 56060215 56060215 single base substitution T C synonymous_variant R3R 9A>G COAD-US 17 56060277 56060277 single base substitution T C missense_variant K15E 43A>G COAD-US 17 56060277 56060277 single base substitution T C missense_variant K162E 484A>G COAD-US 17 56060277 56060277 single base substitution T C missense_variant K171E 511A>G COAD-US 17 56060277 56060277 single base substitution T C upstream_gene_variant COAD-US 17 56060280 56060280 single base substitution C T missense_variant V14I 40G>A COAD-US 17 56060280 56060280 single base substitution C T missense_variant V161I 481G>A COAD-US 17 56060280 56060280 single base substitution C T missense_variant V170I 508G>A COAD-US 17 56060280 56060280 single base substitution C T upstream_gene_variant COAD-US 17 56060347 56060347 single base substitution G A 5_prime_UTR_variant COAD-US 17 56060347 56060347 single base substitution G A synonymous_variant N138N 414C>T COAD-US 17 56060347 56060347 single base substitution G A synonymous_variant N147N 441C>T COAD-US 17 56060347 56060347 single base substitution G A upstream_gene_variant COAD-US 17 56060390 56060390 single base substitution G A 5_prime_UTR_variant COAD-US 17 56060390 56060390 single base substitution G A missense_variant A124V 371C>T COAD-US 17 56060390 56060390 single base substitution G A missense_variant A133V 398C>T COAD-US 17 56060390 56060390 single base substitution G A upstream_gene_variant COCA-CN 17 56052274 56052274 single base substitution G T intron_variant COCA-CN 17 56056607 56056607 single base substitution C T downstream_gene_variant COCA-CN 17 56056607 56056607 single base substitution C T synonymous_variant Q166Q 498G>A COCA-CN 17 56056607 56056607 single base substitution C T synonymous_variant Q339Q 1017G>A COCA-CN 17 56056607 56056607 single base substitution C T synonymous_variant Q348Q 1044G>A COCA-CN 17 56058163 56058163 single base substitution A C downstream_gene_variant COCA-CN 17 56058163 56058163 single base substitution A C intron_variant COCA-CN 17 56058163 56058163 single base substitution A C missense_variant F77L 231T>G EOPC-DE 17 56068445 56068445 single base substitution C A upstream_gene_variant ESAD-UK 17 56047119 56047119 single base substitution G A downstream_gene_variant ESAD-UK 17 56047212 56047212 single base substitution G T downstream_gene_variant ESAD-UK 17 56052365 56052365 single base substitution A G intron_variant ESAD-UK 17 56058540 56058540 single base substitution A G downstream_gene_variant ESAD-UK 17 56058540 56058540 single base substitution A G intron_variant ESAD-UK 17 56058627 56058627 single base substitution G A downstream_gene_variant ESAD-UK 17 56058627 56058627 single base substitution G A intron_variant ESAD-UK 17 56062333 56062333 single base substitution G C intron_variant ESAD-UK 17 56062333 56062333 single base substitution G C upstream_gene_variant ESAD-UK 17 56068766 56068766 deletion of <=200bp A - upstream_gene_variant ESAD-UK 17 56069000 56069000 deletion of <=200bp C - upstream_gene_variant ESAD-UK 17 56069000 56069000 insertion of <=200bp - C upstream_gene_variant GBM-US 17 56056604 56056604 insertion of <=200bp - TGC downstream_gene_variant GBM-US 17 56056604 56056604 insertion of <=200bp - TGC inframe_insertion Q167QA GBM-US 17 56056604 56056604 insertion of <=200bp - TGC inframe_insertion Q340QA GBM-US 17 56056604 56056604 insertion of <=200bp - TGC inframe_insertion Q349QA GBM-US 17 56060219 56060219 single base substitution T C downstream_gene_variant GBM-US 17 56060219 56060219 single base substitution T C missense_variant N181S 542A>G GBM-US 17 56060219 56060219 single base substitution T C missense_variant N190S 569A>G GBM-US 17 56060219 56060219 single base substitution T C missense_variant N2S 5A>G KIRC-US 17 56058037 56058037 single base substitution G T downstream_gene_variant KIRC-US 17 56058037 56058037 single base substitution G T synonymous_variant I119I 357C>A KIRC-US 17 56058037 56058037 single base substitution G T synonymous_variant I292I 876C>A KIRC-US 17 56058037 56058037 single base substitution G T synonymous_variant I301I 903C>A KIRC-US 17 56060482 56060482 single base substitution C T 5_prime_UTR_variant KIRC-US 17 56060482 56060482 single base substitution C T synonymous_variant V102V 306G>A KIRC-US 17 56060482 56060482 single base substitution C T synonymous_variant V93V 279G>A KIRC-US 17 56060482 56060482 single base substitution C T upstream_gene_variant KIRP-US 17 56060465 56060465 single base substitution G T 5_prime_UTR_variant KIRP-US 17 56060465 56060465 single base substitution G T missense_variant T108N 323C>A KIRP-US 17 56060465 56060465 single base substitution G T missense_variant T99N 296C>A KIRP-US 17 56060465 56060465 single base substitution G T upstream_gene_variant LAML-KR 17 56057353 56057353 single base substitution C A downstream_gene_variant LAML-KR 17 56057353 56057353 single base substitution C A intron_variant LGG-US 17 56056605 56056607 deletion of <=200bp TGC - disruptive_inframe_deletion QQ166Q LGG-US 17 56056605 56056607 deletion of <=200bp TGC - disruptive_inframe_deletion QQ339Q LGG-US 17 56056605 56056607 deletion of <=200bp TGC - disruptive_inframe_deletion QQ348Q LGG-US 17 56056605 56056607 deletion of <=200bp TGC - downstream_gene_variant LGG-US 17 56060673 56060673 single base substitution C G 5_prime_UTR_variant LGG-US 17 56060673 56060673 single base substitution C G missense_variant D30H 88G>C LGG-US 17 56060673 56060673 single base substitution C G missense_variant D39H 115G>C LGG-US 17 56060673 56060673 single base substitution C G upstream_gene_variant LICA-CN 17 56058082 56058082 single base substitution C A downstream_gene_variant LICA-CN 17 56058082 56058082 single base substitution C A missense_variant K104N 312G>T LICA-CN 17 56058082 56058082 single base substitution C A missense_variant K277N 831G>T LICA-CN 17 56058082 56058082 single base substitution C A missense_variant K286N 858G>T LICA-FR 17 56049252 56049252 single base substitution T A 3_prime_UTR_variant LICA-FR 17 56049252 56049252 single base substitution T A downstream_gene_variant LICA-FR 17 56058739 56058739 single base substitution T C downstream_gene_variant LICA-FR 17 56058739 56058739 single base substitution T C intron_variant LIHC-US 17 56052168 56052168 single base substitution G C missense_variant T229S 686C>G LIHC-US 17 56052168 56052168 single base substitution G C missense_variant T402S 1205C>G LIHC-US 17 56052168 56052168 single base substitution G C missense_variant T411S 1232C>G LIHC-US 17 56056604 56056604 single base substitution T C downstream_gene_variant LIHC-US 17 56056604 56056604 single base substitution T C synonymous_variant Q167Q 501A>G LIHC-US 17 56056604 56056604 single base substitution T C synonymous_variant Q340Q 1020A>G LIHC-US 17 56056604 56056604 single base substitution T C synonymous_variant Q349Q 1047A>G LIHC-US 17 56056622 56056622 single base substitution C T downstream_gene_variant LIHC-US 17 56056622 56056622 single base substitution C T synonymous_variant Q161Q 483G>A LIHC-US 17 56056622 56056622 single base substitution C T synonymous_variant Q334Q 1002G>A LIHC-US 17 56056622 56056622 single base substitution C T synonymous_variant Q343Q 1029G>A LINC-JP 17 56046946 56046946 single base substitution C A downstream_gene_variant LINC-JP 17 56056607 56056607 single base substitution C T downstream_gene_variant LINC-JP 17 56056607 56056607 single base substitution C T synonymous_variant Q166Q 498G>A LINC-JP 17 56056607 56056607 single base substitution C T synonymous_variant Q339Q 1017G>A LINC-JP 17 56056607 56056607 single base substitution C T synonymous_variant Q348Q 1044G>A LINC-JP 17 56059353 56059353 single base substitution C G downstream_gene_variant LINC-JP 17 56059353 56059353 single base substitution C G intron_variant LINC-JP 17 56060365 56060365 single base substitution T C 5_prime_UTR_variant LINC-JP 17 56060365 56060365 single base substitution T C synonymous_variant T132T 396A>G LINC-JP 17 56060365 56060365 single base substitution T C synonymous_variant T141T 423A>G LINC-JP 17 56060365 56060365 single base substitution T C upstream_gene_variant LINC-JP 17 56067745 56067745 single base substitution C G upstream_gene_variant LIRI-JP 17 56043918 56043918 single base substitution G A downstream_gene_variant LIRI-JP 17 56044306 56044306 single base substitution A G downstream_gene_variant LIRI-JP 17 56044920 56044920 single base substitution G T downstream_gene_variant LIRI-JP 17 56046370 56046370 single base substitution G A downstream_gene_variant LIRI-JP 17 56048255 56048255 single base substitution A C downstream_gene_variant LIRI-JP 17 56048415 56048415 single base substitution C T downstream_gene_variant LIRI-JP 17 56049866 56049866 single base substitution A G 3_prime_UTR_variant LIRI-JP 17 56049866 56049866 single base substitution A G downstream_gene_variant LIRI-JP 17 56050156 56050156 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 56050156 56050156 single base substitution T C downstream_gene_variant LIRI-JP 17 56051396 56051396 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 56054021 56054021 single base substitution C A intron_variant LIRI-JP 17 56056605 56056605 insertion of <=200bp - TGC disruptive_inframe_insertion Q167QQ LIRI-JP 17 56056605 56056605 insertion of <=200bp - TGC disruptive_inframe_insertion Q340QQ LIRI-JP 17 56056605 56056605 insertion of <=200bp - TGC disruptive_inframe_insertion Q349QQ LIRI-JP 17 56056605 56056605 insertion of <=200bp - TGC downstream_gene_variant LIRI-JP 17 56057075 56057075 single base substitution C T downstream_gene_variant LIRI-JP 17 56057075 56057075 single base substitution C T intron_variant LIRI-JP 17 56058419 56058419 single base substitution A G downstream_gene_variant LIRI-JP 17 56058419 56058419 single base substitution A G intron_variant LIRI-JP 17 56063962 56063962 single base substitution T C intron_variant LIRI-JP 17 56063962 56063962 single base substitution T C upstream_gene_variant LIRI-JP 17 56066250 56066250 single base substitution G C upstream_gene_variant LIRI-JP 17 56067018 56067018 single base substitution A C upstream_gene_variant LIRI-JP 17 56067531 56067531 single base substitution G A upstream_gene_variant LIRI-JP 17 56068496 56068496 single base substitution C A upstream_gene_variant LIRI-JP 17 56068664 56068664 single base substitution G T upstream_gene_variant LIRI-JP 17 56068896 56068896 single base substitution T A upstream_gene_variant LIRI-JP 17 56069777 56069777 single base substitution C T upstream_gene_variant LIRI-JP 17 56070381 56070401 deletion of <=200bp GCCTAGATAAGATCTGGCTTA - upstream_gene_variant LUSC-KR 17 56044151 56044151 single base substitution C G downstream_gene_variant LUSC-KR 17 56063662 56063662 single base substitution G A intron_variant LUSC-KR 17 56063662 56063662 single base substitution G A upstream_gene_variant LUSC-KR 17 56065317 56065317 single base substitution G A intron_variant LUSC-KR 17 56065317 56065317 single base substitution G A upstream_gene_variant LUSC-KR 17 56065839 56065839 single base substitution C T upstream_gene_variant LUSC-KR 17 56066732 56066732 single base substitution T A upstream_gene_variant LUSC-KR 17 56067118 56067118 single base substitution C G upstream_gene_variant LUSC-US 17 56051849 56051849 single base substitution T C synonymous_variant T335T 1005A>G LUSC-US 17 56051849 56051849 single base substitution T C synonymous_variant T508T 1524A>G LUSC-US 17 56051849 56051849 single base substitution T C synonymous_variant T517T 1551A>G LUSC-US 17 56051910 56051934 deletion of <=200bp GGGGCGGCTAATGTCATAGGTGTGG - frameshift_variant PTPMTLAAP307 LUSC-US 17 56051910 56051934 deletion of <=200bp GGGGCGGCTAATGTCATAGGTGTGG - frameshift_variant PTPMTLAAP480 LUSC-US 17 56051910 56051934 deletion of <=200bp GGGGCGGCTAATGTCATAGGTGTGG - frameshift_variant PTPMTLAAP489 LUSC-US 17 56052036 56052036 single base substitution G A missense_variant T273I 818C>T LUSC-US 17 56052036 56052036 single base substitution G A missense_variant T446I 1337C>T LUSC-US 17 56052036 56052036 single base substitution G A missense_variant T455I 1364C>T LUSC-US 17 56060750 56060750 single base substitution T C 5_prime_UTR_variant LUSC-US 17 56060750 56060750 single base substitution T C missense_variant H13R 38A>G LUSC-US 17 56060750 56060750 single base substitution T C missense_variant H4R 11A>G LUSC-US 17 56060750 56060750 single base substitution T C upstream_gene_variant MALY-DE 17 56055583 56055583 single base substitution A C downstream_gene_variant MALY-DE 17 56055583 56055583 single base substitution A C intron_variant MELA-AU 17 56044675 56044675 single base substitution G A downstream_gene_variant MELA-AU 17 56044694 56044694 single base substitution G A downstream_gene_variant MELA-AU 17 56044985 56044985 single base substitution C T downstream_gene_variant MELA-AU 17 56045093 56045093 single base substitution G A downstream_gene_variant MELA-AU 17 56045532 56045532 single base substitution C T downstream_gene_variant MELA-AU 17 56046103 56046103 single base substitution A C downstream_gene_variant MELA-AU 17 56046159 56046159 single base substitution A G downstream_gene_variant MELA-AU 17 56046306 56046306 single base substitution G A downstream_gene_variant MELA-AU 17 56046313 56046313 single base substitution G A downstream_gene_variant MELA-AU 17 56046488 56046488 single base substitution G A downstream_gene_variant MELA-AU 17 56046492 56046492 single base substitution C T downstream_gene_variant MELA-AU 17 56048981 56048981 single base substitution G A 3_prime_UTR_variant MELA-AU 17 56048981 56048981 single base substitution G A downstream_gene_variant MELA-AU 17 56049111 56049111 single base substitution G A 3_prime_UTR_variant MELA-AU 17 56049111 56049111 single base substitution G A downstream_gene_variant MELA-AU 17 56049119 56049119 single base substitution G A 3_prime_UTR_variant MELA-AU 17 56049119 56049119 single base substitution G A downstream_gene_variant MELA-AU 17 56049199 56049199 single base substitution G A 3_prime_UTR_variant MELA-AU 17 56049199 56049199 single base substitution G A downstream_gene_variant MELA-AU 17 56049728 56049728 single base substitution C T 3_prime_UTR_variant MELA-AU 17 56049728 56049728 single base substitution C T downstream_gene_variant MELA-AU 17 56050738 56050738 single base substitution G A 3_prime_UTR_variant MELA-AU 17 56050738 56050738 single base substitution G A downstream_gene_variant MELA-AU 17 56051390 56051390 single base substitution C T 3_prime_UTR_variant MELA-AU 17 56051492 56051492 single base substitution C T 3_prime_UTR_variant MELA-AU 17 56053058 56053058 single base substitution C T intron_variant MELA-AU 17 56053710 56053710 single base substitution G A intron_variant MELA-AU 17 56053809 56053809 single base substitution G A intron_variant MELA-AU 17 56053810 56053810 single base substitution G A intron_variant MELA-AU 17 56054827 56054827 single base substitution A T intron_variant MELA-AU 17 56054851 56054851 single base substitution G A intron_variant MELA-AU 17 56055625 56055625 single base substitution G A downstream_gene_variant MELA-AU 17 56055625 56055625 single base substitution G A intron_variant MELA-AU 17 56056063 56056063 single base substitution C T downstream_gene_variant MELA-AU 17 56056063 56056063 single base substitution C T intron_variant MELA-AU 17 56056099 56056100 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 17 56056099 56056100 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 17 56056232 56056232 insertion of <=200bp - ATA downstream_gene_variant MELA-AU 17 56056232 56056232 insertion of <=200bp - ATA intron_variant MELA-AU 17 56056604 56056604 single base substitution T C downstream_gene_variant MELA-AU 17 56056604 56056604 single base substitution T C synonymous_variant Q167Q 501A>G MELA-AU 17 56056604 56056604 single base substitution T C synonymous_variant Q340Q 1020A>G MELA-AU 17 56056604 56056604 single base substitution T C synonymous_variant Q349Q 1047A>G MELA-AU 17 56058156 56058156 single base substitution G A downstream_gene_variant MELA-AU 17 56058156 56058156 single base substitution G A intron_variant MELA-AU 17 56058156 56058156 single base substitution G A missense_variant L80F 238C>T MELA-AU 17 56058910 56058910 single base substitution T A downstream_gene_variant MELA-AU 17 56058910 56058910 single base substitution T A intron_variant MELA-AU 17 56059307 56059308 deletion of <=200bp AG - downstream_gene_variant MELA-AU 17 56059307 56059308 deletion of <=200bp AG - intron_variant MELA-AU 17 56061879 56061879 single base substitution C T intron_variant MELA-AU 17 56061879 56061879 single base substitution C T upstream_gene_variant MELA-AU 17 56062027 56062027 deletion of <=200bp A - intron_variant MELA-AU 17 56062027 56062027 deletion of <=200bp A - upstream_gene_variant MELA-AU 17 56062584 56062584 single base substitution A G intron_variant MELA-AU 17 56062584 56062584 single base substitution A G upstream_gene_variant MELA-AU 17 56063895 56063895 single base substitution A T intron_variant MELA-AU 17 56063895 56063895 single base substitution A T upstream_gene_variant MELA-AU 17 56064532 56064532 single base substitution C T intron_variant MELA-AU 17 56064532 56064532 single base substitution C T upstream_gene_variant MELA-AU 17 56066995 56066995 single base substitution C T upstream_gene_variant MELA-AU 17 56068703 56068703 single base substitution G A upstream_gene_variant MELA-AU 17 56070224 56070224 single base substitution G A upstream_gene_variant MELA-AU 17 56070569 56070569 single base substitution G A upstream_gene_variant ORCA-IN 17 56060456 56060456 single base substitution G T 5_prime_UTR_variant ORCA-IN 17 56060456 56060456 single base substitution G T missense_variant T102K 305C>A ORCA-IN 17 56060456 56060456 single base substitution G T missense_variant T111K 332C>A ORCA-IN 17 56060456 56060456 single base substitution G T upstream_gene_variant OV-AU 17 56057345 56057345 single base substitution A C downstream_gene_variant OV-AU 17 56057345 56057345 single base substitution A C intron_variant OV-AU 17 56057521 56057521 single base substitution T A downstream_gene_variant OV-AU 17 56057521 56057521 single base substitution T A intron_variant OV-AU 17 56066073 56066073 single base substitution A C upstream_gene_variant OV-AU 17 56066378 56066378 single base substitution C T upstream_gene_variant OV-US 17 56056655 56056655 single base substitution G A downstream_gene_variant OV-US 17 56056655 56056655 single base substitution G A synonymous_variant T150T 450C>T OV-US 17 56056655 56056655 single base substitution G A synonymous_variant T323T 969C>T OV-US 17 56056655 56056655 single base substitution G A synonymous_variant T332T 996C>T PACA-AU 17 56047348 56047348 single base substitution G A downstream_gene_variant PACA-AU 17 56050568 56050568 single base substitution A G 3_prime_UTR_variant PACA-AU 17 56050568 56050568 single base substitution A G downstream_gene_variant PACA-AU 17 56051105 56051105 single base substitution A T 3_prime_UTR_variant PACA-AU 17 56051105 56051105 single base substitution A T downstream_gene_variant PACA-AU 17 56052325 56052349 deletion of <=200bp TGAATCAATTTCTTTTCATTAAAAA - intron_variant PACA-AU 17 56064558 56064558 single base substitution G A intron_variant PACA-AU 17 56064558 56064558 single base substitution G A upstream_gene_variant PACA-AU 17 56070401 56070401 single base substitution A T upstream_gene_variant PACA-CA 17 56045736 56045736 single base substitution T C downstream_gene_variant PACA-CA 17 56049079 56049079 single base substitution G T 3_prime_UTR_variant PACA-CA 17 56049079 56049079 single base substitution G T downstream_gene_variant PACA-CA 17 56049829 56049829 single base substitution T C 3_prime_UTR_variant PACA-CA 17 56049829 56049829 single base substitution T C downstream_gene_variant PACA-CA 17 56051120 56051120 single base substitution A T 3_prime_UTR_variant PACA-CA 17 56054639 56054639 single base substitution G A intron_variant PACA-CA 17 56056653 56056653 single base substitution C T downstream_gene_variant PACA-CA 17 56056653 56056653 single base substitution C T missense_variant S151N 452G>A PACA-CA 17 56056653 56056653 single base substitution C T missense_variant S324N 971G>A PACA-CA 17 56056653 56056653 single base substitution C T missense_variant S333N 998G>A PACA-CA 17 56062027 56062027 deletion of <=200bp A - intron_variant PACA-CA 17 56062027 56062027 deletion of <=200bp A - upstream_gene_variant PACA-CA 17 56062801 56062801 single base substitution G T intron_variant PACA-CA 17 56062801 56062801 single base substitution G T upstream_gene_variant PACA-CA 17 56063343 56063343 single base substitution T C intron_variant PACA-CA 17 56063343 56063343 single base substitution T C splice_region_variant PACA-CA 17 56063343 56063343 single base substitution T C upstream_gene_variant PACA-CA 17 56065098 56065098 single base substitution C A intron_variant PACA-CA 17 56065098 56065098 single base substitution C A upstream_gene_variant PACA-CA 17 56065877 56065877 single base substitution G A upstream_gene_variant PACA-CA 17 56066857 56066857 single base substitution C T upstream_gene_variant PACA-CA 17 56067043 56067043 single base substitution T C upstream_gene_variant PACA-CA 17 56068926 56068926 single base substitution G C upstream_gene_variant PACA-CA 17 56068952 56068952 single base substitution C G upstream_gene_variant PACA-CA 17 56069603 56069603 single base substitution T G upstream_gene_variant PAEN-AU 17 56065118 56065118 single base substitution T G intron_variant PAEN-AU 17 56065118 56065118 single base substitution T G upstream_gene_variant PBCA-DE 17 56046697 56046698 deletion of <=200bp CT - downstream_gene_variant PBCA-DE 17 56054945 56054945 single base substitution C T intron_variant PRAD-UK 17 56044950 56044950 single base substitution G A downstream_gene_variant PRAD-UK 17 56049712 56049712 single base substitution G A 3_prime_UTR_variant PRAD-UK 17 56049712 56049712 single base substitution G A downstream_gene_variant PRAD-UK 17 56056222 56056222 deletion of <=200bp A - downstream_gene_variant PRAD-UK 17 56056222 56056222 deletion of <=200bp A - intron_variant PRAD-UK 17 56060549 56060549 single base substitution C T 5_prime_UTR_variant PRAD-UK 17 56060549 56060549 single base substitution C T missense_variant S71N 212G>A PRAD-UK 17 56060549 56060549 single base substitution C T missense_variant S80N 239G>A PRAD-UK 17 56060549 56060549 single base substitution C T upstream_gene_variant PRAD-US 17 56056605 56056607 deletion of <=200bp TGC - disruptive_inframe_deletion QQ166Q PRAD-US 17 56056605 56056607 deletion of <=200bp TGC - disruptive_inframe_deletion QQ339Q PRAD-US 17 56056605 56056607 deletion of <=200bp TGC - disruptive_inframe_deletion QQ348Q PRAD-US 17 56056605 56056607 deletion of <=200bp TGC - downstream_gene_variant PRAD-US 17 56060635 56060635 deletion of <=200bp T - 5_prime_UTR_variant PRAD-US 17 56060635 56060635 deletion of <=200bp T - frameshift_variant K42 PRAD-US 17 56060635 56060635 deletion of <=200bp T - frameshift_variant K51 PRAD-US 17 56060635 56060635 deletion of <=200bp T - upstream_gene_variant READ-US 17 56056607 56056607 single base substitution C T downstream_gene_variant READ-US 17 56056607 56056607 single base substitution C T synonymous_variant Q166Q 498G>A READ-US 17 56056607 56056607 single base substitution C T synonymous_variant Q339Q 1017G>A READ-US 17 56056607 56056607 single base substitution C T synonymous_variant Q348Q 1044G>A RECA-EU 17 56044649 56044649 single base substitution C A downstream_gene_variant RECA-EU 17 56048924 56048924 single base substitution T C 3_prime_UTR_variant RECA-EU 17 56048924 56048924 single base substitution T C downstream_gene_variant RECA-EU 17 56052188 56052188 single base substitution T C synonymous_variant T222T 666A>G RECA-EU 17 56052188 56052188 single base substitution T C synonymous_variant T395T 1185A>G RECA-EU 17 56052188 56052188 single base substitution T C synonymous_variant T404T 1212A>G RECA-EU 17 56052195 56052195 single base substitution C T missense_variant S220N 659G>A RECA-EU 17 56052195 56052195 single base substitution C T missense_variant S393N 1178G>A RECA-EU 17 56052195 56052195 single base substitution C T missense_variant S402N 1205G>A RECA-EU 17 56052218 56052218 single base substitution A T synonymous_variant P212P 636T>A RECA-EU 17 56052218 56052218 single base substitution A T synonymous_variant P385P 1155T>A RECA-EU 17 56052218 56052218 single base substitution A T synonymous_variant P394P 1182T>A RECA-EU 17 56054427 56054427 single base substitution T C intron_variant RECA-EU 17 56059015 56059015 single base substitution T C downstream_gene_variant RECA-EU 17 56059015 56059015 single base substitution T C intron_variant RECA-EU 17 56059682 56059682 single base substitution T G downstream_gene_variant RECA-EU 17 56059682 56059682 single base substitution T G intron_variant RECA-EU 17 56064767 56064767 single base substitution C A intron_variant RECA-EU 17 56064767 56064767 single base substitution C A upstream_gene_variant SKCA-BR 17 56044793 56044793 single base substitution G A downstream_gene_variant SKCA-BR 17 56045069 56045069 single base substitution C T downstream_gene_variant SKCA-BR 17 56046647 56046647 single base substitution C G downstream_gene_variant SKCA-BR 17 56046666 56046666 single base substitution G A downstream_gene_variant SKCA-BR 17 56052484 56052484 single base substitution G A intron_variant SKCA-BR 17 56055593 56055593 single base substitution T A downstream_gene_variant SKCA-BR 17 56055593 56055593 single base substitution T A intron_variant SKCA-BR 17 56056604 56056604 insertion of <=200bp - TTGC downstream_gene_variant SKCA-BR 17 56056604 56056604 insertion of <=200bp - TTGC frameshift_variant Q167QA? SKCA-BR 17 56056604 56056604 insertion of <=200bp - TTGC frameshift_variant Q340QA? SKCA-BR 17 56056604 56056604 insertion of <=200bp - TTGC frameshift_variant Q349QA? SKCA-BR 17 56057316 56057316 single base substitution G A downstream_gene_variant SKCA-BR 17 56057316 56057316 single base substitution G A intron_variant SKCA-BR 17 56061533 56061533 single base substitution T C intron_variant SKCA-BR 17 56061533 56061533 single base substitution T C upstream_gene_variant SKCA-BR 17 56063135 56063135 single base substitution C T intron_variant SKCA-BR 17 56063135 56063135 single base substitution C T upstream_gene_variant SKCA-BR 17 56065415 56065415 insertion of <=200bp - GC intron_variant SKCA-BR 17 56065415 56065415 insertion of <=200bp - GC upstream_gene_variant SKCA-BR 17 56068422 56068422 single base substitution G T upstream_gene_variant SKCA-BR 17 56069283 56069283 single base substitution G A upstream_gene_variant SKCM-US 17 56052172 56052172 single base substitution C A missense_variant G228W 682G>T SKCM-US 17 56052172 56052172 single base substitution C A missense_variant G401W 1201G>T SKCM-US 17 56052172 56052172 single base substitution C A missense_variant G410W 1228G>T SKCM-US 17 56060475 56060475 insertion of <=200bp - C 5_prime_UTR_variant SKCM-US 17 56060475 56060475 insertion of <=200bp - C frameshift_variant P105R? SKCM-US 17 56060475 56060475 insertion of <=200bp - C frameshift_variant P96R? SKCM-US 17 56060475 56060475 insertion of <=200bp - C upstream_gene_variant SKCM-US 17 56060513 56060513 single base substitution T A 5_prime_UTR_variant SKCM-US 17 56060513 56060513 single base substitution T A missense_variant H83L 248A>T SKCM-US 17 56060513 56060513 single base substitution T A missense_variant H92L 275A>T SKCM-US 17 56060513 56060513 single base substitution T A upstream_gene_variant STAD-US 17 56056587 56056587 insertion of <=200bp - TGT disruptive_inframe_insertion H173QH STAD-US 17 56056587 56056587 insertion of <=200bp - TGT disruptive_inframe_insertion H346QH STAD-US 17 56056587 56056587 insertion of <=200bp - TGT disruptive_inframe_insertion H355QH STAD-US 17 56056587 56056587 insertion of <=200bp - TGT downstream_gene_variant STAD-US 17 56056610 56056610 single base substitution C T downstream_gene_variant STAD-US 17 56056610 56056610 single base substitution C T synonymous_variant Q165Q 495G>A STAD-US 17 56056610 56056610 single base substitution C T synonymous_variant Q338Q 1014G>A STAD-US 17 56056610 56056610 single base substitution C T synonymous_variant Q347Q 1041G>A STAD-US 17 56059243 56059243 single base substitution G A downstream_gene_variant STAD-US 17 56059243 56059243 single base substitution G A synonymous_variant F252F 756C>T STAD-US 17 56059243 56059243 single base substitution G A synonymous_variant F261F 783C>T STAD-US 17 56059243 56059243 single base substitution G A synonymous_variant F73F 219C>T STAD-US 17 56059278 56059278 single base substitution G A downstream_gene_variant STAD-US 17 56059278 56059278 single base substitution G A missense_variant H241Y 721C>T STAD-US 17 56059278 56059278 single base substitution G A missense_variant H250Y 748C>T STAD-US 17 56059278 56059278 single base substitution G A missense_variant H62Y 184C>T STAD-US 17 56060228 56060228 single base substitution T C downstream_gene_variant STAD-US 17 56060228 56060228 single base substitution T C missense_variant Y178C 533A>G STAD-US 17 56060228 56060228 single base substitution T C missense_variant Y187C 560A>G STAD-US 17 56060228 56060228 single base substitution T C upstream_gene_variant THCA-SA 17 56056604 56056604 insertion of <=200bp - TGC downstream_gene_variant THCA-SA 17 56056604 56056604 insertion of <=200bp - TGC inframe_insertion Q167QA THCA-SA 17 56056604 56056604 insertion of <=200bp - TGC inframe_insertion Q340QA THCA-SA 17 56056604 56056604 insertion of <=200bp - TGC inframe_insertion Q349QA UCEC-US 17 56056604 56056604 single base substitution T C downstream_gene_variant UCEC-US 17 56056604 56056604 single base substitution T C synonymous_variant Q167Q 501A>G UCEC-US 17 56056604 56056604 single base substitution T C synonymous_variant Q340Q 1020A>G UCEC-US 17 56056604 56056604 single base substitution T C synonymous_variant Q349Q 1047A>G UCEC-US 17 56058077 56058077 single base substitution G T downstream_gene_variant UCEC-US 17 56058077 56058077 single base substitution G T stop_gained S106* 317C>A UCEC-US 17 56058077 56058077 single base substitution G T stop_gained S279* 836C>A UCEC-US 17 56058077 56058077 single base substitution G T stop_gained S288* 863C>A UCEC-US 17 56060209 56060209 single base substitution C A downstream_gene_variant UCEC-US 17 56060209 56060209 single base substitution C A missense_variant K184N 552G>T UCEC-US 17 56060209 56060209 single base substitution C A missense_variant K193N 579G>T UCEC-US 17 56060209 56060209 single base substitution C A missense_variant K5N 15G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 3N34-VS-3T34 COSM4980969 c.639G>C p.R213S Substitution - Missense 17:57982788-57982788 - TCGA-AM-5821-01 COSM3755702 c.573A>G p.R191R Substitution - coding silent 17:57982854-57982854 - CSCC-31-T COSM4501286 c.584C>T p.S195F Substitution - Missense 17:57982843-57982843 - TCGA-BS-A0UF-01 COSM981711 c.579G>T p.K193N Substitution - Missense 17:57982848-57982848 - HCC1954 COSM50208 c.1514_1520delTAGAGAG p.V505fs*>15 Deletion - Frameshift 17:57974519-57974525 - CSCC-44-T COSM4473563 c.185C>T p.A62V Substitution - Missense 17:57983242-57983242 - TCGA-F4-6856-01 COSM1384641 c.622A>G p.N208D Substitution - Missense 17:57982805-57982805 - YULAN COSM1710519 c.1358C>T p.S453F Substitution - Missense 17:57974681-57974681 - LUAD-YKER9 COSM352023 c.930G>T p.Q310H Substitution - Missense 17:57980649-57980649 - TCGA-D5-6928-01 COSM1384640 c.893C>T p.A298V Substitution - Missense 17:57980686-57980686 - TCGA-29-1695-01 COSM1324944 c.535T>C p.C179R Substitution - Missense 17:57982892-57982892 - YUKIL COSM1710518 c.1442C>T p.T481I Substitution - Missense 17:57974597-57974597 - 0092_CRUK_PC_0092_T1_DNA COSM5421981 c.239G>A p.S80N Substitution - Missense 17:57983188-57983188 - OSCC-GB_00570111 COSM4889949 c.332C>A p.T111K Substitution - Missense 17:57983095-57983095 - Pat_14_B COSM5853066 c.1315C>T p.P439S Substitution - Missense 17:57974724-57974724 - PTC-14C COSM4130434 c.1087C>A p.Q363K Substitution - Missense 17:57979203-57979203 - TCGA-F4-6461-01 COSM5828561 c.1032_1046del15 p.Q350_Q354delQQQQQ Deletion - In frame 17:57979244-57979258 - TCGA-G2-A2EF-01 COSM1303097 c.673G>A p.E225K Substitution - Missense 17:57982754-57982754 - sysucc-1163T COSM1384638 c.1044G>A p.Q348Q Substitution - coding silent 17:57979246-57979246 - TCGA-60-2713-01 COSM706739 c.1364C>T p.T455I Substitution - Missense 17:57974675-57974675 - ESCC_157 COSM5646303 c.591A>G p.S197S Substitution - coding silent 17:57982836-57982836 - TCGA-DD-A11B-01 COSM4934081 c.1232C>G p.T411S Substitution - Missense 17:57974807-57974807 - ESO-1059 COSM1270200 c.276C>G p.H92Q Substitution - Missense 17:57983151-57983151 - TCGA-06-0209-01 COSM3403040 c.569A>G p.N190S Substitution - Missense 17:57982858-57982858 - 528 COSM5612236 c.141A>G p.P47P Substitution - coding silent 17:57983286-57983286 - TCGA-G9-6342-01 COSM3672517 c.159G>T p.Q53H Substitution - Missense 17:57983268-57983268 - 66 COSM5743857 c.646C>T p.R216W Substitution - Missense 17:57982781-57982781 - 7996 COSM5614478 c.800C>G p.T267S Substitution - Missense 17:57980779-57980779 - 2293776 COSM4607669 c.710G>T p.C237F Substitution - Missense 17:57982717-57982717 - BN17T COSM1384638 c.1044G>A p.Q348Q Substitution - coding silent 17:57979246-57979246 - T36 COSM1384637 c.1064_1065insACA p.Q354_H355insQ Insertion - In frame 17:57979225-57979226 - TCGA-G4-6588-01 COSM1384644 c.398C>T p.A133V Substitution - Missense 17:57983029-57983029 - T65 COSM1177698 c.628C>T p.R210C Substitution - Missense 17:57982799-57982799 - TCGA-BR-8590-01 COSM4068063 c.783C>T p.F261F Substitution - coding silent 17:57981882-57981882 - TCGA-66-2800-01 COSM706740 c.1551A>G p.T517T Substitution - coding silent 17:57974488-57974488 - TCGA-AM-5820-01 COSM3194941 c.508G>A p.V170I Substitution - Missense 17:57982919-57982919 - TCGA-A7-A26F-01 COSM1479777 c.1046_1047insGCA p.Q354_H355insQ Insertion - In frame 17:57979243-57979244 - TCGA-B6-A0IM-01 COSM1479777 c.1046_1047insGCA p.Q354_H355insQ Insertion - In frame 17:57979243-57979244 - TCGA-BH-A0HB-01 COSM436971 c.500G>C p.S167T Substitution - Missense 17:57982927-57982927 - TCGA-CG-5721-01 COSM4068065 c.560A>G p.Y187C Substitution - Missense 17:57982867-57982867 - 71M COSM5596139 c.1351C>T p.P451S Substitution - Missense 17:57974688-57974688 - ESCC_170 COSM5649285 c.1274G>C p.R425T Substitution - Missense 17:57974765-57974765 - T6 COSM981708 c.1047A>G p.Q349Q Substitution - coding silent 17:57979243-57979243 - PTC_448 COSM1479777 c.1046_1047insGCA p.Q354_H355insQ Insertion - In frame 17:57979243-57979244 - SJDES006 COSM1384637 c.1064_1065insACA p.Q354_H355insQ Insertion - In frame 17:57979225-57979226 - C0010T COSM3194918 c.1182T>A p.P394P Substitution - coding silent 17:57974857-57974857 - TCGA-G7-6795-01 COSM3989177 c.323C>A p.T108N Substitution - Missense 17:57983104-57983104 - BD72T COSM1384638 c.1044G>A p.Q348Q Substitution - coding silent 17:57979246-57979246 - TCGA-D8-A1JJ-01 COSM1479777 c.1046_1047insGCA p.Q354_H355insQ Insertion - In frame 17:57979243-57979244 - TCGA-BP-4985-01 COSM473084 c.903C>A p.I301I Substitution - coding silent 17:57980676-57980676 - C0010T COSM3194917 c.1205G>A p.S402N Substitution - Missense 17:57974834-57974834 - Pat_15_B COSM1479778 c.1044_1046delGCA p.Q354delQ Deletion - In frame 17:57979244-57979246 - TCGA-HT-7477-01 COSM3970182 c.115G>C p.D39H Substitution - Missense 17:57983312-57983312 - TCGA-BS-A0TJ-01 COSM981710 c.844C>T p.R282C Substitution - Missense 17:57980735-57980735 - T204 COSM1384637 c.1064_1065insACA p.Q354_H355insQ Insertion - In frame 17:57979225-57979226 - LU-A08-43 COSM400354 c.1146T>C p.A382A Substitution - coding silent 17:57974893-57974893 - LUAD-S01478 COSM399754 c.1109G>T p.W370L Substitution - Missense 17:57979181-57979181 - TCGA-CM-4746-01 COSM5828560 c.1046_1047insGCAACA p.Q354_H355insQQ Insertion - In frame 17:57979243-57979244 - CSCC-37-T COSM4502008 c.602C>T p.P201L Substitution - Missense 17:57982825-57982825 - SJDES007-R2 COSM4579907 c.93G>A p.L31L Substitution - coding silent 17:57983334-57983334 - T670 COSM1479778 c.1044_1046delGCA p.Q354delQ Deletion - In frame 17:57979244-57979246 - TCGA-FV-A4ZP-01 COSM4929529 c.1029G>A p.Q343Q Substitution - coding silent 17:57979261-57979261 - TCGA-AD-6895-01 COSM1479777 c.1046_1047insGCA p.Q354_H355insQ Insertion - In frame 17:57979243-57979244 - STC252 COSM1384638 c.1044G>A p.Q348Q Substitution - coding silent 17:57979246-57979246 - HCC077T COSM5810427 c.858G>T p.K286N Substitution - Missense 17:57980721-57980721 - TCGA-AP-A054-01 COSM981708 c.1047A>G p.Q349Q Substitution - coding silent 17:57979243-57979243 - TCGA-FW-A5DY-06 COSM3519956 c.275A>T p.H92L Substitution - Missense 17:57983152-57983152 - TP_2060 COSM5569183 c.412A>G p.T138A Substitution - Missense 17:57983015-57983015 - TCGA-BH-A18V-06 COSM1479777 c.1046_1047insGCA p.Q354_H355insQ Insertion - In frame 17:57979243-57979244 - A4 COSM5350397 c.1047_1048insGCA p.Q349_Q350insA Insertion - In frame 17:57979242-57979243 - T2 COSM5342979 c.130C>T p.L44F Substitution - Missense 17:57983297-57983297 - TCGA-BP-5200-01 COSM473085 c.306G>A p.V102V Substitution - coding silent 17:57983121-57983121 - TCGA-AM-5820-01 COSM3755701 c.1101G>C p.L367L Substitution - coding silent 17:57979189-57979189 - 587350 COSM1232259 c.271C>T p.R91C Substitution - Missense 17:57983156-57983156 - SNUH_G17_S1 COSM3680514 c.1091T>A p.V364E Substitution - Missense 17:57979199-57979199 - TCGA-BR-A4QL-01 COSM3820052 c.1041G>A p.Q347Q Substitution - coding silent 17:57979249-57979249 - HCC151 COSM3717487 c.423A>G p.T141T Substitution - coding silent 17:57983004-57983004 - TCGA-FD-A3NA-01 COSM1303096 c.988G>A p.E330K Substitution - Missense 17:57979302-57979302 - C391 COSM4441681 c.1276A>T p.S426C Substitution - Missense 17:57974763-57974763 - YUROC COSM5386860 c.863C>T p.S288L Substitution - Missense 17:57980716-57980716 - TCGA-D5-6928-01 COSM1384642 c.511A>G p.K171E Substitution - Missense 17:57982916-57982916 - 13280 COSM5614477 c.1320G>T p.M440I Substitution - Missense 17:57974719-57974719 - TCGA-B5-A0JY-01 COSM981709 c.863C>A p.S288* Substitution - Nonsense 17:57980716-57980716 - Pat_01_B COSM1479778 c.1044_1046delGCA p.Q354delQ Deletion - In frame 17:57979244-57979246 - PT48 COSM5933677 c.112C>T p.P38S Substitution - Missense 17:57983315-57983315 - HCC151T COSM3717487 c.423A>G p.T141T Substitution - coding silent 17:57983004-57983004 - TCGA-EI-6882-01 COSM1384638 c.1044G>A p.Q348Q Substitution - coding silent 17:57979246-57979246 - LUAD-U6SJ7 COSM400186 c.1456A>T p.M486L Substitution - Missense 17:57974583-57974583 - TCGA-DD-A1ED-01 COSM981708 c.1047A>G p.Q349Q Substitution - coding silent 17:57979243-57979243 - TCGA-24-1562-01 COSM81903 c.996C>T p.T332T Substitution - coding silent 17:57979294-57979294 - TCGA-A6-6141-01 COSM1384643 c.441C>T p.N147N Substitution - coding silent 17:57982986-57982986 - sysucc-882T COSM1384638 c.1044G>A p.Q348Q Substitution - coding silent 17:57979246-57979246 - TCGA-66-2767-01 COSM706738 c.38A>G p.H13R Substitution - Missense 17:57983389-57983389 - RK133_C01 COSM1479777 c.1046_1047insGCA p.Q354_H355insQ Insertion - In frame 17:57979243-57979244 - TCGA-EW-A1OZ-01 COSM1479777 c.1046_1047insGCA p.Q354_H355insQ Insertion - In frame 17:57979243-57979244 - YURAY COSM5386861 c.380C>T p.S127L Substitution - Missense 17:57983047-57983047 - TCGA-BH-A18G-01 COSM3820052 c.1041G>A p.Q347Q Substitution - coding silent 17:57979249-57979249 - TCGA-EE-A2MQ-06 COSM3519955 c.1228G>T p.G410W Substitution - Missense 17:57974811-57974811 - TCGA-BR-8590-01 COSM4068064 c.748C>T p.H250Y Substitution - Missense 17:57981917-57981917 - TCGA-AD-6895-01 COSM1384636 c.1463T>A p.L488Q Substitution - Missense 17:57974576-57974576 - CSCC-27-T COSM4465126 c.1369C>T p.P457S Substitution - Missense 17:57974670-57974670 - pfg181T COSM4755751 c.1411A>T p.T471S Substitution - Missense 17:57974628-57974628 - C0010T COSM3194916 c.1212A>G p.T404T Substitution - coding silent 17:57974827-57974827 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.463556;Hs.463569 17q22 606747

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.M440I c.1320G>T 17 56052080 NSCLC CC AA Missense p.W370F c.1109_1110delinsTT 17 56056541 CM - C Frameshift p.P105Afs*46 c.312dupG 17 56060476 CM C G Missense p.G309R c.925G>C 17 56058015 CM C G Missense p.S167T c.500G>C 17 56060288 BRCA C T Missense p.E225K c.673G>A 17 56060115 BLCA C T Missense p.E330K c.988G>A 17 56056663 BLCA C T Missense p.R125Q c.374G>A 17 56060414 HNSC C T Synonymous p.V102V c.306G>A 17 56060482 RCCC G A Missense p.P469S c.1405C>T 17 56051995 BRCA G A Missense p.T455I c.1364C>T 17 56052036 LUSC G A Nonsense p.R184* c.550C>T 17 56060238 HNSC G A Synonymous p.L384L c.1150C>T 17 56052250 CM G A Synonymous p.T332T c.996C>T 17 56056655 OV G C Missense p.H308D c.922C>G 17 56058018 LUAD G C Missense p.H92Q c.276C>G 17 56060512 ESCA G C Missense p.T267S c.800C>G 17 56058140 NSCLC GG AA Missense p.P479S c.1434_1435delinsTT 17 56051965 CM GGGGCGGCTAATGTCATAGGTGTGG - Frameshift p.P489Lfs*4 c.1466_1490delCCACACCTATGACATTAGCCGCCCC 17 56051910 LUSC G T Synonymous p.I301I c.903C>A 17 56058037 RCCC G T Synonymous p.P469P c.1407C>A 17 56051993 LUAD G T Synonymous p.R104R c.310C>A 17 56060478 STAD T C Missense p.H13R c.38A>G 17 56060750 LUSC T C Missense p.N190S c.569A>G 17 56060219 GBM T C Synonymous p.Q349Q c.1047A>G 17 56056604 UCEC T C Synonymous p.T517T c.1551A>G 17 56051849 LUSC T - Frameshift p.K51Nfs*9 c.153delA 17 56060635 PRAD - TGC MultiAAMissense p.Q349delinsRK c.1045_1046insGCA 17 56056605 BRCA - TGC MultiAAMissense p.Q349delinsRK c.1045_1046insGCA 17 56056605 GBM - TGC MultiAAMissense p.Q349delinsRK c.1045_1046insGCA 17 56056605 HC - TGCTGC MultiAAMissense p.Q349delinsRSK c.1045_1046insGCAGCA 17 56056605 BRCA TGCTGCTGC - InFrameDeletion p.Q352_Q354delQQQ c.1038_1046delGCAGCAGCA 17 56056605 LUAD T - IntronicDeletion . c.977-53delA 17 56056727 STAD