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 76794517 76794517 + Silent SNP G G A TCGA-4Z-AA7Y-01A-11D-A391-08 TCGA-4Z-AA7Y-10A-01D-A394-08 g.chr17:76794517G>A c.3357C>T c.(3355-3357)ctC>ctT p.L1119L BLCA 17 76794606 76794606 + Missense_Mutation SNP C C T TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr17:76794606C>T c.3268G>A c.(3268-3270)Gag>Aag p.E1090K BLCA 17 76799954 76799954 + Missense_Mutation SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr17:76799954G>A c.2323C>T c.(2323-2325)Cgg>Tgg p.R775W BLCA 17 76803462 76803462 + Missense_Mutation SNP C C A TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr17:76803462C>A c.1664G>T c.(1663-1665)gGg>gTg p.G555V BLCA 17 76803502 76803502 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 g.chr17:76803502G>A c.1624C>T c.(1624-1626)Cca>Tca p.P542S BLCA 17 76810611 76810611 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr17:76810611G>A c.1047C>T c.(1045-1047)ctC>ctT p.L349L BLCA 17 76814848 76814850 + In_Frame_Del DEL CTT CTT - TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 g.chr17:76814848_76814850delCTT c.922_924delAAG c.(922-924)aagdel p.K308del BLCA 17 76816041 76816041 + Silent SNP C C T TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr17:76816041C>T c.882G>A c.(880-882)ctG>ctA p.L294L BLCA 17 76817134 76817134 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr17:76817134G>T c.767C>A c.(766-768)tCc>tAc p.S256Y BLCA 17 76831483 76831483 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr17:76831483G>A c.354C>T c.(352-354)ttC>ttT p.F118F BLCA 17 76832305 76832305 + Missense_Mutation SNP C C G TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr17:76832305C>G c.141G>C c.(139-141)aaG>aaC p.K47N BLCA 17 76832341 76832341 + Silent SNP G G A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr17:76832341G>A c.105C>T c.(103-105)gtC>gtT p.V35V BRCA 17 76794540 76794540 + Missense_Mutation SNP G G A TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 g.chr17:76794540G>A c.3334C>T c.(3334-3336)Cac>Tac p.H1112Y BRCA 17 76795831 76795831 + Silent SNP A A T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 g.chr17:76795831A>T c.3042T>A c.(3040-3042)ccT>ccA p.P1014P BRCA 17 76798464 76798464 + Silent SNP G G T TCGA-E2-A15R-01A-11D-A10Y-09 TCGA-E2-A15R-10A-01D-A110-09 g.chr17:76798464G>T c.2964C>A c.(2962-2964)gtC>gtA p.V988V BRCA 17 76798528 76798528 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr17:76798528C>T c.2900G>A c.(2899-2901)cGg>cAg p.R967Q BRCA 17 76799656 76799656 + Missense_Mutation SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr17:76799656T>C c.2621A>G c.(2620-2622)tAc>tGc p.Y874C BRCA 17 76799860 76799861 + Frame_Shift_Ins INS - - G TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 g.chr17:76799860_76799861insG c.2416_2417insC c.(2416-2418)cagfs p.Q806fs BRCA 17 76799860 76799861 + Frame_Shift_Ins INS - - G TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 g.chr17:76799860_76799861insG c.2416_2417insC c.(2416-2418)cagfs p.Q806fs BRCA 17 76799860 76799861 + Frame_Shift_Ins INS - - G TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 g.chr17:76799860_76799861insG c.2416_2417insC c.(2416-2418)cagfs p.Q806fs BRCA 17 76803588 76803588 + Missense_Mutation SNP G G A TCGA-E2-A15J-01A-11D-A12Q-09 TCGA-E2-A15J-10A-01D-A12Q-09 g.chr17:76803588G>A c.1538C>T c.(1537-1539)tCc>tTc p.S513F BRCA 17 76831512 76831512 + Nonsense_Mutation SNP G G A TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 g.chr17:76831512G>A c.325C>T c.(325-327)Cga>Tga p.R109* CESC 17 76794610 76794610 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr17:76794610C>G c.3264G>C c.(3262-3264)aaG>aaC p.K1088N CESC 17 76799495 76799495 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 g.chr17:76799495C>T c.2782G>A c.(2782-2784)Ggc>Agc p.G928S COAD 17 76794504 76794504 + Nonstop_Mutation SNP A A G TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr17:76794504A>G c.3370T>C c.(3370-3372)Tga>Cga p.*1124R COAD 17 76794563 76794563 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:76794563C>T c.3311G>A c.(3310-3312)cGa>cAa p.R1104Q COAD 17 76795039 76795039 + Missense_Mutation SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr17:76795039C>T c.3191G>A c.(3190-3192)cGg>cAg p.R1064Q COAD 17 76799702 76799702 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr17:76799702C>T c.2575G>A c.(2575-2577)Gcc>Acc p.A859T COAD 17 76799861 76799861 + Frame_Shift_Del DEL G G - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr17:76799861delG c.2416delC c.(2416-2418)cagfs p.Q806fs COAD 17 76803062 76803062 + Frame_Shift_Del DEL T T - TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr17:76803062delT c.2064delA c.(2062-2064)aaafs p.K688fs COAD 17 76814831 76814831 + Missense_Mutation SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr17:76814831C>T c.941G>A c.(940-942)cGc>cAc p.R314H COAD 17 76825006 76825006 + Missense_Mutation SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr17:76825006G>A c.559C>T c.(559-561)Ccc>Tcc p.P187S COAD 17 76825030 76825030 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr17:76825030C>T c.535G>A c.(535-537)Gcc>Acc p.A179T COAD 17 76831397 76831397 + Missense_Mutation SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr17:76831397G>A c.440C>T c.(439-441)gCc>gTc p.A147V COAD 17 76832230 76832230 + Silent SNP G G T TCGA-AA-3695-01A-01W-0900-09 TCGA-AA-3695-10A-01W-0900-09 g.chr17:76832230G>T c.216C>A c.(214-216)cgC>cgA p.R72R COADREAD 17 76794504 76794504 + Nonstop_Mutation SNP A A G TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr17:76794504A>G c.3370T>C c.(3370-3372)Tga>Cga p.*1124R COADREAD 17 76794563 76794563 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:76794563C>T c.3311G>A c.(3310-3312)cGa>cAa p.R1104Q COADREAD 17 76795039 76795039 + Missense_Mutation SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr17:76795039C>T c.3191G>A c.(3190-3192)cGg>cAg p.R1064Q COADREAD 17 76799702 76799702 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr17:76799702C>T c.2575G>A c.(2575-2577)Gcc>Acc p.A859T COADREAD 17 76799861 76799861 + Frame_Shift_Del DEL G G - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr17:76799861delG c.2416delC c.(2416-2418)cagfs p.Q806fs COADREAD 17 76803062 76803062 + Frame_Shift_Del DEL T T - TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr17:76803062delT c.2064delA c.(2062-2064)aaafs p.K688fs COADREAD 17 76803074 76803074 + Silent SNP T T C TCGA-AG-A02G-01A-01W-A00E-09 TCGA-AG-A02G-10A-01W-A00E-09 g.chr17:76803074T>C c.2052A>G c.(2050-2052)ccA>ccG p.P684P COADREAD 17 76814831 76814831 + Missense_Mutation SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr17:76814831C>T c.941G>A c.(940-942)cGc>cAc p.R314H COADREAD 17 76825006 76825006 + Missense_Mutation SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr17:76825006G>A c.559C>T c.(559-561)Ccc>Tcc p.P187S COADREAD 17 76825030 76825030 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr17:76825030C>T c.535G>A c.(535-537)Gcc>Acc p.A179T COADREAD 17 76831397 76831397 + Missense_Mutation SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr17:76831397G>A c.440C>T c.(439-441)gCc>gTc p.A147V COADREAD 17 76832230 76832230 + Silent SNP G G T TCGA-AA-3695-01A-01W-0900-09 TCGA-AA-3695-10A-01W-0900-09 g.chr17:76832230G>T c.216C>A c.(214-216)cgC>cgA p.R72R DLBC 17 76823425 76823425 + Silent SNP G G T TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr17:76823425G>T c.591C>A c.(589-591)atC>atA p.I197I ESCA 17 76795028 76795028 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 g.chr17:76795028C>T c.3202G>A c.(3202-3204)Gtg>Atg p.V1068M ESCA 17 76798547 76798547 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr17:76798547delT c.2881delA c.(2881-2883)agafs p.R961fs ESCA 17 76799558 76799558 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr17:76799558C>T c.2719G>A c.(2719-2721)Ggc>Agc p.G907S ESCA 17 76810529 76810529 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 g.chr17:76810529T>C c.1129A>G c.(1129-1131)Agc>Ggc p.S377G GBMLGG 17 76803536 76803536 + Silent SNP G G A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 g.chr17:76803536G>A c.1590C>T c.(1588-1590)gaC>gaT p.D530D GBMLGG 17 76825052 76825052 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:76825052C>A c.513G>T c.(511-513)caG>caT p.Q171H GBMLGG 17 76832339 76832339 + Missense_Mutation SNP A A G TCGA-DU-7304-01A-12D-2086-08 TCGA-DU-7304-10A-01D-2086-08 g.chr17:76832339A>G c.107T>C c.(106-108)cTt>cCt p.L36P HNSC 17 76794995 76794995 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr17:76794995C>T c.3235G>A c.(3235-3237)Ggg>Agg p.G1079R HNSC 17 76798577 76798577 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 g.chr17:76798577C>T c.2851G>A c.(2851-2853)Gag>Aag p.E951K HNSC 17 76803168 76803168 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr17:76803168G>A c.1958C>T c.(1957-1959)aCg>aTg p.T653M HNSC 17 76803592 76803592 + Missense_Mutation SNP C C A TCGA-BA-A6DI-01A-11D-A30E-08 TCGA-BA-A6DI-10A-01D-A30H-08 g.chr17:76803592C>A c.1534G>T c.(1534-1536)Ggg>Tgg p.G512W HNSC 17 76808947 76808947 + Missense_Mutation SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 g.chr17:76808947C>T c.1402G>A c.(1402-1404)Gga>Aga p.G468R HNSC 17 76816075 76816075 + De_novo_Start_OutOfFrame SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 g.chr17:76816075C>T HNSC 17 76823412 76823412 + Missense_Mutation SNP G G A TCGA-QK-A6V9-01A-11D-A34J-08 TCGA-QK-A6V9-10B-01D-A34M-08 g.chr17:76823412G>A c.604C>T c.(604-606)Cgc>Tgc p.R202C HNSC 17 76832439 76832439 + Missense_Mutation SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 g.chr17:76832439T>C c.7A>G c.(7-9)Ata>Gta p.I3V KIPAN 17 76794524 76794524 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr17:76794524G>A c.3350C>T c.(3349-3351)gCc>gTc p.A1117V KIPAN 17 76795062 76795062 + Silent SNP A A C TCGA-A3-3349-01A-01D-1251-10 TCGA-A3-3349-11A-01D-1251-10 g.chr17:76795062A>C c.3168T>G c.(3166-3168)gcT>gcG p.A1056A KIPAN 17 76802272 76802272 + Missense_Mutation SNP C C T TCGA-Y8-A897-01A-11D-A35Z-10 TCGA-Y8-A897-10A-01D-A35Z-10 g.chr17:76802272C>T c.2182G>A c.(2182-2184)Gtc>Atc p.V728I KIPAN 17 76803450 76803450 + Missense_Mutation SNP G G A TCGA-2Z-A9J7-01A-11D-A382-10 TCGA-2Z-A9J7-10A-01D-A385-10 g.chr17:76803450G>A c.1676C>T c.(1675-1677)tCg>tTg p.S559L KIPAN 17 76810621 76810621 + Missense_Mutation SNP G G A TCGA-CJ-4878-01A-01D-1373-10 TCGA-CJ-4878-11A-01D-1373-10 g.chr17:76810621G>A c.1037C>T c.(1036-1038)cCg>cTg p.P346L KIRC 17 76794524 76794524 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr17:76794524G>A c.3350C>T c.(3349-3351)gCc>gTc p.A1117V KIRC 17 76795062 76795062 + Silent SNP A A C TCGA-A3-3349-01A-01D-1251-10 TCGA-A3-3349-11A-01D-1251-10 g.chr17:76795062A>C c.3168T>G c.(3166-3168)gcT>gcG p.A1056A KIRC 17 76810621 76810621 + Missense_Mutation SNP G G A TCGA-CJ-4878-01A-01D-1373-10 TCGA-CJ-4878-11A-01D-1373-10 g.chr17:76810621G>A c.1037C>T c.(1036-1038)cCg>cTg p.P346L KIRP 17 76802272 76802272 + Missense_Mutation SNP C C T TCGA-Y8-A897-01A-11D-A35Z-10 TCGA-Y8-A897-10A-01D-A35Z-10 g.chr17:76802272C>T c.2182G>A c.(2182-2184)Gtc>Atc p.V728I KIRP 17 76803450 76803450 + Missense_Mutation SNP G G A TCGA-2Z-A9J7-01A-11D-A382-10 TCGA-2Z-A9J7-10A-01D-A385-10 g.chr17:76803450G>A c.1676C>T c.(1675-1677)tCg>tTg p.S559L LAML 17 76825031 76825031 + Silent SNP G G A TCGA-AB-2827-03B-01W-0728-08 TCGA-AB-2827-11B-01W-0728-08 g.chr17:76825031G>A c.534C>T c.(532-534)ttC>ttT p.F178F LGG 17 76803536 76803536 + Silent SNP G G A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 g.chr17:76803536G>A c.1590C>T c.(1588-1590)gaC>gaT p.D530D LGG 17 76825052 76825052 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:76825052C>A c.513G>T c.(511-513)caG>caT p.Q171H LGG 17 76832339 76832339 + Missense_Mutation SNP A A G TCGA-DU-7304-01A-12D-2086-08 TCGA-DU-7304-10A-01D-2086-08 g.chr17:76832339A>G c.107T>C c.(106-108)cTt>cCt p.L36P LIHC 17 76799861 76799861 + Missense_Mutation SNP G G C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr17:76799861G>C c.2416C>G c.(2416-2418)Cag>Gag p.Q806E LIHC 17 76799931 76799931 + Silent SNP C C A TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr17:76799931C>A c.2346G>T c.(2344-2346)acG>acT p.T782T LIHC 17 76802273 76802273 + Silent SNP G G A TCGA-DD-A116-01A-11D-A12Z-10 TCGA-DD-A116-10A-01D-A12Z-10 g.chr17:76802273G>A c.2181C>T c.(2179-2181)ccC>ccT p.P727P LIHC 17 76810529 76810529 + Missense_Mutation SNP T T C TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr17:76810529T>C c.1129A>G c.(1129-1131)Agc>Ggc p.S377G LIHC 17 76814798 76814798 + Missense_Mutation SNP G G C TCGA-T1-A6J8-01A-11D-A32G-10 TCGA-T1-A6J8-10A-01D-A32G-10 g.chr17:76814798G>C c.974C>G c.(973-975)aCc>aGc p.T325S LUAD 17 76794510 76794510 + Missense_Mutation SNP G G A TCGA-64-5779-01A-01D-1625-08 TCGA-64-5779-10A-01D-1625-08 g.chr17:76794510G>A c.3364C>T c.(3364-3366)Cgc>Tgc p.R1122C LUAD 17 76794540 76794540 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr17:76794540G>C c.3334C>G c.(3334-3336)Cac>Gac p.H1112D LUAD 17 76799722 76799722 + Missense_Mutation SNP G G A TCGA-MP-A4SY-01A-21D-A24P-08 TCGA-MP-A4SY-10A-01D-A24P-08 g.chr17:76799722G>A c.2555C>T c.(2554-2556)cCg>cTg p.P852L LUAD 17 76799860 76799861 + Frame_Shift_Ins INS - - G TCGA-17-Z041-01A-01W-0746-08 TCGA-17-Z041-11A-01W-0746-08 g.chr17:76799860_76799861insG c.2416_2417insC c.(2416-2418)cagfs p.Q806fs LUAD 17 76802278 76802278 + Missense_Mutation SNP G G A TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr17:76802278G>A c.2176C>T c.(2176-2178)Cac>Tac p.H726Y LUAD 17 76803211 76803211 + Missense_Mutation SNP C C A TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr17:76803211C>A c.1915G>T c.(1915-1917)Gat>Tat p.D639Y LUAD 17 76803278 76803278 + Missense_Mutation SNP C C A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr17:76803278C>A c.1848G>T c.(1846-1848)gaG>gaT p.E616D LUAD 17 76810548 76810548 + Silent SNP G G A TCGA-69-8253-01A-11D-2284-08 TCGA-69-8253-10A-01D-2284-08 g.chr17:76810548G>A c.1110C>T c.(1108-1110)gtC>gtT p.V370V LUAD 17 76823389 76823389 + Silent SNP C C A TCGA-80-5611-01A-01D-1625-08 TCGA-80-5611-10A-01D-1625-08 g.chr17:76823389C>A c.627G>T c.(625-627)gcG>gcT p.A209A LUAD 17 76831480 76831480 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr17:76831480G>A c.357C>T c.(355-357)cgC>cgT p.R119R LUAD 17 76831489 76831489 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 g.chr17:76831489C>A c.348G>T c.(346-348)cgG>cgT p.R116R LUSC 17 76795011 76795011 + Silent SNP G G A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 g.chr17:76795011G>A c.3219C>T c.(3217-3219)gaC>gaT p.D1073D LUSC 17 76795029 76795029 + Silent SNP G G A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 g.chr17:76795029G>A c.3201C>T c.(3199-3201)acC>acT p.T1067T LUSC 17 76817074 76817074 + Splice_Site SNP C C A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 g.chr17:76817074C>A c.827G>T c.(826-828)cGg>cTg p.R276L LUSC 17 76831437 76831437 + Missense_Mutation SNP T T C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 g.chr17:76831437T>C c.400A>G c.(400-402)Aat>Gat p.N134D LUSC 17 76831522 76831522 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr17:76831522G>A c.315C>T c.(313-315)ttC>ttT p.F105F LUSC 17 76831527 76831527 + Missense_Mutation SNP G G A TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr17:76831527G>A c.310C>T c.(310-312)Ctt>Ttt p.L104F OV 17 76799703 76799703 + Silent SNP G G A TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 g.chr17:76799703G>A c.2574C>T c.(2572-2574)agC>agT p.S858S OV 17 76817092 76817092 + Missense_Mutation SNP T T C TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 g.chr17:76817092T>C c.809A>G c.(808-810)gAc>gGc p.D270G PAAD 17 76799818 76799818 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:76799818G>A c.2459C>T c.(2458-2460)cCg>cTg p.P820L PAAD 17 76800004 76800004 + Frame_Shift_Del DEL T T - TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 g.chr17:76800004delT c.2273delA c.(2272-2274)cacfs p.H758fs PAAD 17 76803497 76803497 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:76803497C>T c.1629G>A c.(1627-1629)caG>caA p.Q543Q PCPG 17 76831368 76831368 + Missense_Mutation SNP G G A TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 g.chr17:76831368G>A c.469C>T c.(469-471)Cgc>Tgc p.R157C PRAD 17 76803039 76803039 + Splice_Site SNP A A C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 g.chr17:76803039A>C c.e14+1 PRAD 17 76831511 76831511 + Missense_Mutation SNP C C T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr17:76831511C>T c.326G>A c.(325-327)cGa>cAa p.R109Q READ 17 76803074 76803074 + Silent SNP T T C TCGA-AG-A02G-01A-01W-A00E-09 TCGA-AG-A02G-10A-01W-A00E-09 g.chr17:76803074T>C c.2052A>G c.(2050-2052)ccA>ccG p.P684P SARC 17 76818061 76818061 + Missense_Mutation SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 g.chr17:76818061T>C c.715A>G c.(715-717)Acc>Gcc p.T239A SKCM 17 76794553 76794553 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr17:76794553G>A c.3321C>T c.(3319-3321)ttC>ttT p.F1107F SKCM 17 76799510 76799510 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 g.chr17:76799510G>A c.2767C>T c.(2767-2769)Ctt>Ttt p.L923F SKCM 17 76799751 76799751 + Silent SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr17:76799751C>T c.2526G>A c.(2524-2526)ggG>ggA p.G842G SKCM 17 76799935 76799935 + Missense_Mutation SNP G G A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 g.chr17:76799935G>A c.2342C>T c.(2341-2343)tCg>tTg p.S781L SKCM 17 76800017 76800017 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr17:76800017G>A c.2260C>T c.(2260-2262)Ccc>Tcc p.P754S SKCM 17 76800037 76800037 + Missense_Mutation SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr17:76800037G>A c.2240C>T c.(2239-2241)tCa>tTa p.S747L SKCM 17 76802270 76802270 + Silent SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr17:76802270G>A c.2184C>T c.(2182-2184)gtC>gtT p.V728V SKCM 17 76802333 76802333 + Silent SNP G G A TCGA-EB-A5SG-06A-11D-A30X-08 TCGA-EB-A5SG-10A-01D-A30X-08 g.chr17:76802333G>A c.2121C>T c.(2119-2121)ctC>ctT p.L707L SKCM 17 76803147 76803147 + Missense_Mutation SNP G G A TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr17:76803147G>A c.1979C>T c.(1978-1980)tCt>tTt p.S660F SKCM 17 76803431 76803431 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr17:76803431C>T c.1695G>A c.(1693-1695)ggG>ggA p.G565G SKCM 17 76823355 76823355 + Nonsense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 g.chr17:76823355G>A c.661C>T c.(661-663)Cag>Tag p.Q221* SKCM 17 76823413 76823413 + Silent SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr17:76823413G>A c.603C>T c.(601-603)ttC>ttT p.F201F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 17 76823357 76823357 single base substitution A G 5_prime_UTR_variant ALL-US 17 76823357 76823357 single base substitution A G downstream_gene_variant ALL-US 17 76823357 76823357 single base substitution A G exon_variant ALL-US 17 76823357 76823357 single base substitution A G missense_variant M220T 659T>C ALL-US 17 76823357 76823357 single base substitution A G upstream_gene_variant ALL-US 17 76832297 76832299 deletion of <=200bp GAG - exon_variant ALL-US 17 76832297 76832299 deletion of <=200bp GAG - inframe_deletion FS49F ALL-US 17 76832297 76832299 deletion of <=200bp GAG - intron_variant BLCA-CN 17 76798591 76798591 single base substitution G A exon_variant BLCA-CN 17 76798591 76798591 single base substitution G A missense_variant P551L 1652C>T BLCA-CN 17 76798591 76798591 single base substitution G A missense_variant P946L 2837C>T BLCA-CN 17 76798591 76798591 single base substitution G A upstream_gene_variant BLCA-CN 17 76798592 76798592 single base substitution G A exon_variant BLCA-CN 17 76798592 76798592 single base substitution G A missense_variant P551S 1651C>T BLCA-CN 17 76798592 76798592 single base substitution G A missense_variant P946S 2836C>T BLCA-CN 17 76798592 76798592 single base substitution G A upstream_gene_variant BLCA-CN 17 76799953 76799953 single base substitution C T downstream_gene_variant BLCA-CN 17 76799953 76799953 single base substitution C T exon_variant BLCA-CN 17 76799953 76799953 single base substitution C T intron_variant BLCA-CN 17 76799953 76799953 single base substitution C T missense_variant R775Q 2324G>A BLCA-CN 17 76799953 76799953 single base substitution C T upstream_gene_variant BLCA-CN 17 76803181 76803181 single base substitution C T downstream_gene_variant BLCA-CN 17 76803181 76803181 single base substitution C T exon_variant BLCA-CN 17 76803181 76803181 single base substitution C T missense_variant G349S 1045G>A BLCA-CN 17 76803181 76803181 single base substitution C T missense_variant G649S 1945G>A BLCA-CN 17 76808958 76808958 single base substitution G A downstream_gene_variant BLCA-CN 17 76808958 76808958 single base substitution G A exon_variant BLCA-CN 17 76808958 76808958 single base substitution G A missense_variant S164F 491C>T BLCA-CN 17 76808958 76808958 single base substitution G A missense_variant S254F 761C>T BLCA-CN 17 76808958 76808958 single base substitution G A missense_variant S464F 1391C>T BLCA-CN 17 76814812 76814812 single base substitution T A downstream_gene_variant BLCA-CN 17 76814812 76814812 single base substitution T A exon_variant BLCA-CN 17 76814812 76814812 single base substitution T A synonymous_variant T110T 330A>T BLCA-CN 17 76814812 76814812 single base substitution T A synonymous_variant T20T 60A>T BLCA-CN 17 76814812 76814812 single base substitution T A synonymous_variant T320T 960A>T BLCA-US 17 76817134 76817134 single base substitution G T 5_prime_UTR_variant BLCA-US 17 76817134 76817134 single base substitution G T downstream_gene_variant BLCA-US 17 76817134 76817134 single base substitution G T exon_variant BLCA-US 17 76817134 76817134 single base substitution G T missense_variant S256Y 767C>A BLCA-US 17 76817134 76817134 single base substitution G T missense_variant S46Y 137C>A BLCA-US 17 76817134 76817134 single base substitution G T upstream_gene_variant BLCA-US 17 76831483 76831483 single base substitution G A 3_prime_UTR_variant BLCA-US 17 76831483 76831483 single base substitution G A downstream_gene_variant BLCA-US 17 76831483 76831483 single base substitution G A exon_variant BLCA-US 17 76831483 76831483 single base substitution G A synonymous_variant F118F 354C>T BRCA-EU 17 76778612 76778612 single base substitution C A downstream_gene_variant BRCA-EU 17 76779035 76779035 single base substitution G A downstream_gene_variant BRCA-EU 17 76779325 76779325 single base substitution G C downstream_gene_variant BRCA-EU 17 76779346 76779346 single base substitution G A downstream_gene_variant BRCA-EU 17 76779739 76779739 single base substitution A G downstream_gene_variant BRCA-EU 17 76780462 76780462 single base substitution T C downstream_gene_variant BRCA-EU 17 76781346 76781346 single base substitution G C downstream_gene_variant BRCA-EU 17 76783180 76783180 single base substitution C T downstream_gene_variant BRCA-EU 17 76783206 76783206 single base substitution C T downstream_gene_variant BRCA-EU 17 76783496 76783496 single base substitution A G 3_prime_UTR_variant BRCA-EU 17 76783496 76783496 single base substitution A G downstream_gene_variant BRCA-EU 17 76783975 76783975 single base substitution G A downstream_gene_variant BRCA-EU 17 76783975 76783975 single base substitution G A intron_variant BRCA-EU 17 76784969 76784969 single base substitution G A downstream_gene_variant BRCA-EU 17 76784969 76784969 single base substitution G A intron_variant BRCA-EU 17 76785375 76785375 single base substitution G C downstream_gene_variant BRCA-EU 17 76785375 76785375 single base substitution G C intron_variant BRCA-EU 17 76788794 76788794 single base substitution G A downstream_gene_variant BRCA-EU 17 76788794 76788794 single base substitution G A intron_variant BRCA-EU 17 76789414 76789414 single base substitution G C downstream_gene_variant BRCA-EU 17 76789414 76789414 single base substitution G C intron_variant BRCA-EU 17 76789733 76789733 single base substitution G C downstream_gene_variant BRCA-EU 17 76789733 76789733 single base substitution G C intron_variant BRCA-EU 17 76790488 76790488 single base substitution C T downstream_gene_variant BRCA-EU 17 76790488 76790488 single base substitution C T intron_variant BRCA-EU 17 76791693 76791693 single base substitution T A downstream_gene_variant BRCA-EU 17 76791693 76791693 single base substitution T A intron_variant BRCA-EU 17 76791818 76791818 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 76791818 76791818 single base substitution G A downstream_gene_variant BRCA-EU 17 76791818 76791818 single base substitution G A exon_variant BRCA-EU 17 76791818 76791818 single base substitution G A intron_variant BRCA-EU 17 76792011 76792011 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 76792011 76792011 single base substitution G C downstream_gene_variant BRCA-EU 17 76792011 76792011 single base substitution G C intron_variant BRCA-EU 17 76792221 76792221 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 76792221 76792221 single base substitution C G downstream_gene_variant BRCA-EU 17 76792221 76792221 single base substitution C G intron_variant BRCA-EU 17 76792443 76792443 single base substitution A T 3_prime_UTR_variant BRCA-EU 17 76792443 76792443 single base substitution A T downstream_gene_variant BRCA-EU 17 76792443 76792443 single base substitution A T intron_variant BRCA-EU 17 76794606 76794606 single base substitution C G downstream_gene_variant BRCA-EU 17 76794606 76794606 single base substitution C G exon_variant BRCA-EU 17 76794606 76794606 single base substitution C G missense_variant E1090Q 3268G>C BRCA-EU 17 76794606 76794606 single base substitution C G missense_variant E35Q 103G>C BRCA-EU 17 76794606 76794606 single base substitution C G missense_variant E67Q 199G>C BRCA-EU 17 76794606 76794606 single base substitution C G missense_variant E695Q 2083G>C BRCA-EU 17 76794606 76794606 single base substitution C G upstream_gene_variant BRCA-EU 17 76794960 76794960 single base substitution C A downstream_gene_variant BRCA-EU 17 76794960 76794960 single base substitution C A intron_variant BRCA-EU 17 76794960 76794960 single base substitution C A upstream_gene_variant BRCA-EU 17 76798371 76798371 single base substitution C T downstream_gene_variant BRCA-EU 17 76798371 76798371 single base substitution C T intron_variant BRCA-EU 17 76798371 76798371 single base substitution C T upstream_gene_variant BRCA-EU 17 76798377 76798377 single base substitution C T downstream_gene_variant BRCA-EU 17 76798377 76798377 single base substitution C T intron_variant BRCA-EU 17 76798377 76798377 single base substitution C T upstream_gene_variant BRCA-EU 17 76798777 76798777 single base substitution G A downstream_gene_variant BRCA-EU 17 76798777 76798777 single base substitution G A intron_variant BRCA-EU 17 76798777 76798777 single base substitution G A upstream_gene_variant BRCA-EU 17 76800907 76800907 single base substitution T C downstream_gene_variant BRCA-EU 17 76800907 76800907 single base substitution T C intron_variant BRCA-EU 17 76801746 76801746 single base substitution C T downstream_gene_variant BRCA-EU 17 76801746 76801746 single base substitution C T intron_variant BRCA-EU 17 76802572 76802572 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 76802572 76802572 deletion of <=200bp A - intron_variant BRCA-EU 17 76803128 76803128 single base substitution C T downstream_gene_variant BRCA-EU 17 76803128 76803128 single base substitution C T exon_variant BRCA-EU 17 76803128 76803128 single base substitution C T synonymous_variant K366K 1098G>A BRCA-EU 17 76803128 76803128 single base substitution C T synonymous_variant K666K 1998G>A BRCA-EU 17 76803587 76803587 single base substitution G A downstream_gene_variant BRCA-EU 17 76803587 76803587 single base substitution G A exon_variant BRCA-EU 17 76803587 76803587 single base substitution G A synonymous_variant S213S 639C>T BRCA-EU 17 76803587 76803587 single base substitution G A synonymous_variant S513S 1539C>T BRCA-EU 17 76803911 76803911 single base substitution C G intron_variant BRCA-EU 17 76805050 76805050 single base substitution G C downstream_gene_variant BRCA-EU 17 76805050 76805050 single base substitution G C intron_variant BRCA-EU 17 76805638 76805638 single base substitution G A downstream_gene_variant BRCA-EU 17 76805638 76805638 single base substitution G A intron_variant BRCA-EU 17 76806202 76806202 single base substitution C T downstream_gene_variant BRCA-EU 17 76806202 76806202 single base substitution C T intron_variant BRCA-EU 17 76806234 76806234 single base substitution T C downstream_gene_variant BRCA-EU 17 76806234 76806234 single base substitution T C intron_variant BRCA-EU 17 76806235 76806235 single base substitution C T downstream_gene_variant BRCA-EU 17 76806235 76806235 single base substitution C T intron_variant BRCA-EU 17 76806236 76806236 single base substitution T C downstream_gene_variant BRCA-EU 17 76806236 76806236 single base substitution T C intron_variant BRCA-EU 17 76806874 76806874 single base substitution C G downstream_gene_variant BRCA-EU 17 76806874 76806874 single base substitution C G intron_variant BRCA-EU 17 76808073 76808073 single base substitution C A downstream_gene_variant BRCA-EU 17 76808073 76808073 single base substitution C A intron_variant BRCA-EU 17 76808081 76808081 single base substitution G A downstream_gene_variant BRCA-EU 17 76808081 76808081 single base substitution G A intron_variant BRCA-EU 17 76808149 76808149 single base substitution G T downstream_gene_variant BRCA-EU 17 76808149 76808149 single base substitution G T intron_variant BRCA-EU 17 76808581 76808581 single base substitution C T downstream_gene_variant BRCA-EU 17 76808581 76808581 single base substitution C T intron_variant BRCA-EU 17 76809019 76809019 single base substitution C A downstream_gene_variant BRCA-EU 17 76809019 76809019 single base substitution C A exon_variant BRCA-EU 17 76809019 76809019 single base substitution C A missense_variant G144C 430G>T BRCA-EU 17 76809019 76809019 single base substitution C A missense_variant G234C 700G>T BRCA-EU 17 76809019 76809019 single base substitution C A missense_variant G444C 1330G>T BRCA-EU 17 76809887 76809887 single base substitution C T downstream_gene_variant BRCA-EU 17 76809887 76809887 single base substitution C T exon_variant BRCA-EU 17 76809887 76809887 single base substitution C T synonymous_variant L111L 333G>A BRCA-EU 17 76809887 76809887 single base substitution C T synonymous_variant L201L 603G>A BRCA-EU 17 76809887 76809887 single base substitution C T synonymous_variant L411L 1233G>A BRCA-EU 17 76810559 76810559 single base substitution G A downstream_gene_variant BRCA-EU 17 76810559 76810559 single base substitution G A exon_variant BRCA-EU 17 76810559 76810559 single base substitution G A missense_variant L157F 469C>T BRCA-EU 17 76810559 76810559 single base substitution G A missense_variant L367F 1099C>T BRCA-EU 17 76810559 76810559 single base substitution G A missense_variant L67F 199C>T BRCA-EU 17 76812816 76812816 single base substitution C T downstream_gene_variant BRCA-EU 17 76812816 76812816 single base substitution C T intron_variant BRCA-EU 17 76812875 76812875 single base substitution A G downstream_gene_variant BRCA-EU 17 76812875 76812875 single base substitution A G intron_variant BRCA-EU 17 76815635 76815635 deletion of <=200bp C - downstream_gene_variant BRCA-EU 17 76815635 76815635 deletion of <=200bp C - intron_variant BRCA-EU 17 76815635 76815635 deletion of <=200bp C - upstream_gene_variant BRCA-EU 17 76815949 76815949 single base substitution C T downstream_gene_variant BRCA-EU 17 76815949 76815949 single base substitution C T intron_variant BRCA-EU 17 76815949 76815949 single base substitution C T upstream_gene_variant BRCA-EU 17 76816003 76816003 single base substitution G A downstream_gene_variant BRCA-EU 17 76816003 76816003 single base substitution G A intron_variant BRCA-EU 17 76816003 76816003 single base substitution G A upstream_gene_variant BRCA-EU 17 76816781 76816781 single base substitution C G downstream_gene_variant BRCA-EU 17 76816781 76816781 single base substitution C G intron_variant BRCA-EU 17 76816781 76816781 single base substitution C G upstream_gene_variant BRCA-EU 17 76817031 76817031 single base substitution C T downstream_gene_variant BRCA-EU 17 76817031 76817031 single base substitution C T intron_variant BRCA-EU 17 76817031 76817031 single base substitution C T upstream_gene_variant BRCA-EU 17 76818013 76818013 single base substitution A C downstream_gene_variant BRCA-EU 17 76818013 76818013 single base substitution A C intron_variant BRCA-EU 17 76818013 76818013 single base substitution A C splice_region_variant BRCA-EU 17 76818013 76818013 single base substitution A C upstream_gene_variant BRCA-EU 17 76818595 76818595 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 17 76818595 76818595 single base substitution G A downstream_gene_variant BRCA-EU 17 76818595 76818595 single base substitution G A intron_variant BRCA-EU 17 76818595 76818595 single base substitution G A upstream_gene_variant BRCA-EU 17 76820095 76820095 single base substitution G T downstream_gene_variant BRCA-EU 17 76820095 76820095 single base substitution G T intron_variant BRCA-EU 17 76820095 76820095 single base substitution G T upstream_gene_variant BRCA-EU 17 76820516 76820516 single base substitution G C downstream_gene_variant BRCA-EU 17 76820516 76820516 single base substitution G C intron_variant BRCA-EU 17 76820516 76820516 single base substitution G C upstream_gene_variant BRCA-EU 17 76822282 76822282 single base substitution G A downstream_gene_variant BRCA-EU 17 76822282 76822282 single base substitution G A intron_variant BRCA-EU 17 76822282 76822282 single base substitution G A upstream_gene_variant BRCA-EU 17 76823761 76823761 single base substitution G C downstream_gene_variant BRCA-EU 17 76823761 76823761 single base substitution G C intron_variant BRCA-EU 17 76823761 76823761 single base substitution G C upstream_gene_variant BRCA-EU 17 76825164 76825164 single base substitution C T intron_variant BRCA-EU 17 76825164 76825164 single base substitution C T upstream_gene_variant BRCA-EU 17 76825834 76825834 deletion of <=200bp T - intron_variant BRCA-EU 17 76825834 76825834 deletion of <=200bp T - upstream_gene_variant BRCA-EU 17 76825845 76825845 single base substitution G C intron_variant BRCA-EU 17 76825845 76825845 single base substitution G C upstream_gene_variant BRCA-EU 17 76826341 76826341 single base substitution C G intron_variant BRCA-EU 17 76826341 76826341 single base substitution C G upstream_gene_variant BRCA-EU 17 76826437 76826437 single base substitution C T intron_variant BRCA-EU 17 76826437 76826437 single base substitution C T upstream_gene_variant BRCA-EU 17 76826919 76826919 single base substitution C T intron_variant BRCA-EU 17 76826919 76826919 single base substitution C T upstream_gene_variant BRCA-EU 17 76829692 76829692 single base substitution C T downstream_gene_variant BRCA-EU 17 76829692 76829692 single base substitution C T intron_variant BRCA-EU 17 76829692 76829692 single base substitution C T upstream_gene_variant BRCA-EU 17 76832094 76832094 single base substitution C G downstream_gene_variant BRCA-EU 17 76832094 76832094 single base substitution C G intron_variant BRCA-EU 17 76832144 76832144 single base substitution C T downstream_gene_variant BRCA-EU 17 76832144 76832144 single base substitution C T exon_variant BRCA-EU 17 76832144 76832144 single base substitution C T intron_variant BRCA-EU 17 76832149 76832149 single base substitution C A downstream_gene_variant BRCA-EU 17 76832149 76832149 single base substitution C A exon_variant BRCA-EU 17 76832149 76832149 single base substitution C A intron_variant BRCA-EU 17 76833361 76833361 single base substitution A G intron_variant BRCA-EU 17 76834849 76834849 single base substitution G A 5_prime_UTR_variant BRCA-EU 17 76834849 76834849 single base substitution G A intron_variant BRCA-EU 17 76835337 76835337 single base substitution A C intron_variant BRCA-EU 17 76835337 76835337 single base substitution A C upstream_gene_variant BRCA-EU 17 76835733 76835733 single base substitution T G intron_variant BRCA-EU 17 76835733 76835733 single base substitution T G upstream_gene_variant BRCA-EU 17 76835778 76835778 single base substitution C G intron_variant BRCA-EU 17 76835778 76835778 single base substitution C G upstream_gene_variant BRCA-EU 17 76836326 76836326 single base substitution G A intron_variant BRCA-EU 17 76836326 76836326 single base substitution G A upstream_gene_variant BRCA-EU 17 76837694 76837694 single base substitution G A upstream_gene_variant BRCA-EU 17 76838601 76838601 single base substitution A G upstream_gene_variant BRCA-EU 17 76839505 76839505 single base substitution G C upstream_gene_variant BRCA-EU 17 76839762 76839762 single base substitution C T upstream_gene_variant BRCA-EU 17 76840100 76840100 single base substitution C G upstream_gene_variant BRCA-EU 17 76840298 76840298 single base substitution G A upstream_gene_variant BRCA-EU 17 76840356 76840356 single base substitution C T upstream_gene_variant BRCA-EU 17 76840699 76840699 single base substitution A C upstream_gene_variant BRCA-EU 17 76840700 76840700 single base substitution T C upstream_gene_variant BRCA-EU 17 76841085 76841085 single base substitution T C upstream_gene_variant BRCA-EU 17 76841681 76841681 single base substitution C A upstream_gene_variant BRCA-EU 17 76842429 76842429 single base substitution C T upstream_gene_variant BRCA-FR 17 76779035 76779035 single base substitution G A downstream_gene_variant BRCA-FR 17 76779346 76779346 single base substitution G A downstream_gene_variant BRCA-FR 17 76787542 76787542 single base substitution C A downstream_gene_variant BRCA-FR 17 76787542 76787542 single base substitution C A intron_variant BRCA-FR 17 76794606 76794606 single base substitution C G downstream_gene_variant BRCA-FR 17 76794606 76794606 single base substitution C G exon_variant BRCA-FR 17 76794606 76794606 single base substitution C G missense_variant E1090Q 3268G>C BRCA-FR 17 76794606 76794606 single base substitution C G missense_variant E35Q 103G>C BRCA-FR 17 76794606 76794606 single base substitution C G missense_variant E67Q 199G>C BRCA-FR 17 76794606 76794606 single base substitution C G missense_variant E695Q 2083G>C BRCA-FR 17 76794606 76794606 single base substitution C G upstream_gene_variant BRCA-FR 17 76798777 76798777 single base substitution G A downstream_gene_variant BRCA-FR 17 76798777 76798777 single base substitution G A intron_variant BRCA-FR 17 76798777 76798777 single base substitution G A upstream_gene_variant BRCA-FR 17 76808616 76808616 single base substitution A C downstream_gene_variant BRCA-FR 17 76808616 76808616 single base substitution A C intron_variant BRCA-FR 17 76822740 76822740 single base substitution C G 3_prime_UTR_variant BRCA-FR 17 76822740 76822740 single base substitution C G downstream_gene_variant BRCA-FR 17 76822740 76822740 single base substitution C G intron_variant BRCA-FR 17 76822740 76822740 single base substitution C G upstream_gene_variant BRCA-FR 17 76826432 76826432 single base substitution T A intron_variant BRCA-FR 17 76826432 76826432 single base substitution T A upstream_gene_variant BRCA-FR 17 76835902 76835902 single base substitution C T intron_variant BRCA-FR 17 76835902 76835902 single base substitution C T upstream_gene_variant BRCA-FR 17 76839505 76839505 single base substitution G C upstream_gene_variant BRCA-FR 17 76840100 76840100 single base substitution C G upstream_gene_variant BRCA-FR 17 76840298 76840298 single base substitution G A upstream_gene_variant BRCA-FR 17 76842429 76842429 single base substitution C T upstream_gene_variant BRCA-KR 17 76799753 76799753 single base substitution C T downstream_gene_variant BRCA-KR 17 76799753 76799753 single base substitution C T exon_variant BRCA-KR 17 76799753 76799753 single base substitution C T intron_variant BRCA-KR 17 76799753 76799753 single base substitution C T missense_variant G842R 2524G>A BRCA-KR 17 76799753 76799753 single base substitution C T upstream_gene_variant BRCA-KR 17 76800011 76800011 single base substitution T G downstream_gene_variant BRCA-KR 17 76800011 76800011 single base substitution T G exon_variant BRCA-KR 17 76800011 76800011 single base substitution T G missense_variant S456R 1366A>C BRCA-KR 17 76800011 76800011 single base substitution T G missense_variant S756R 2266A>C BRCA-KR 17 76800011 76800011 single base substitution T G upstream_gene_variant BRCA-UK 17 76785375 76785375 single base substitution G C downstream_gene_variant BRCA-UK 17 76785375 76785375 single base substitution G C intron_variant BRCA-UK 17 76810134 76810134 single base substitution C G downstream_gene_variant BRCA-UK 17 76810134 76810134 single base substitution C G intron_variant BRCA-UK 17 76836906 76836906 single base substitution C T 5_prime_UTR_variant BRCA-UK 17 76836906 76836906 single base substitution C T intron_variant BRCA-UK 17 76836906 76836906 single base substitution C T upstream_gene_variant BRCA-UK 17 76836914 76836914 single base substitution C A 5_prime_UTR_variant BRCA-UK 17 76836914 76836914 single base substitution C A intron_variant BRCA-UK 17 76836914 76836914 single base substitution C A upstream_gene_variant BRCA-UK 17 76841085 76841085 single base substitution T C upstream_gene_variant BRCA-US 17 76794540 76794540 single base substitution G A downstream_gene_variant BRCA-US 17 76794540 76794540 single base substitution G A exon_variant BRCA-US 17 76794540 76794540 single base substitution G A missense_variant H1112Y 3334C>T BRCA-US 17 76794540 76794540 single base substitution G A missense_variant H57Y 169C>T BRCA-US 17 76794540 76794540 single base substitution G A missense_variant H717Y 2149C>T BRCA-US 17 76794540 76794540 single base substitution G A missense_variant H89Y 265C>T BRCA-US 17 76794540 76794540 single base substitution G A upstream_gene_variant BRCA-US 17 76795831 76795831 single base substitution A T downstream_gene_variant BRCA-US 17 76795831 76795831 single base substitution A T exon_variant BRCA-US 17 76795831 76795831 single base substitution A T synonymous_variant P1014P 3042T>A BRCA-US 17 76795831 76795831 single base substitution A T synonymous_variant P619P 1857T>A BRCA-US 17 76795831 76795831 single base substitution A T upstream_gene_variant BRCA-US 17 76798464 76798464 single base substitution G T downstream_gene_variant BRCA-US 17 76798464 76798464 single base substitution G T exon_variant BRCA-US 17 76798464 76798464 single base substitution G T synonymous_variant V593V 1779C>A BRCA-US 17 76798464 76798464 single base substitution G T synonymous_variant V988V 2964C>A BRCA-US 17 76798464 76798464 single base substitution G T upstream_gene_variant BRCA-US 17 76798528 76798528 single base substitution C T downstream_gene_variant BRCA-US 17 76798528 76798528 single base substitution C T exon_variant BRCA-US 17 76798528 76798528 single base substitution C T missense_variant R572Q 1715G>A BRCA-US 17 76798528 76798528 single base substitution C T missense_variant R967Q 2900G>A BRCA-US 17 76798528 76798528 single base substitution C T upstream_gene_variant BRCA-US 17 76799656 76799656 single base substitution T C downstream_gene_variant BRCA-US 17 76799656 76799656 single base substitution T C exon_variant BRCA-US 17 76799656 76799656 single base substitution T C missense_variant Y479C 1436A>G BRCA-US 17 76799656 76799656 single base substitution T C missense_variant Y874C 2621A>G BRCA-US 17 76799656 76799656 single base substitution T C upstream_gene_variant BRCA-US 17 76799860 76799860 insertion of <=200bp - G downstream_gene_variant BRCA-US 17 76799860 76799860 insertion of <=200bp - G exon_variant BRCA-US 17 76799860 76799860 insertion of <=200bp - G frameshift_variant Q806H? BRCA-US 17 76799860 76799860 insertion of <=200bp - G intron_variant BRCA-US 17 76799860 76799860 insertion of <=200bp - G upstream_gene_variant BRCA-US 17 76803588 76803588 single base substitution G A downstream_gene_variant BRCA-US 17 76803588 76803588 single base substitution G A exon_variant BRCA-US 17 76803588 76803588 single base substitution G A missense_variant S213F 638C>T BRCA-US 17 76803588 76803588 single base substitution G A missense_variant S513F 1538C>T BRCA-US 17 76831512 76831512 single base substitution G A downstream_gene_variant BRCA-US 17 76831512 76831512 single base substitution G A exon_variant BRCA-US 17 76831512 76831512 single base substitution G A stop_gained R109* 325C>T BTCA-JP 17 76798549 76798554 deletion of <=200bp TTTTTC - disruptive_inframe_deletion KKK563K BTCA-JP 17 76798549 76798554 deletion of <=200bp TTTTTC - disruptive_inframe_deletion KKK958K BTCA-JP 17 76798549 76798554 deletion of <=200bp TTTTTC - exon_variant BTCA-JP 17 76798549 76798554 deletion of <=200bp TTTTTC - upstream_gene_variant BTCA-JP 17 76810604 76810604 single base substitution G A downstream_gene_variant BTCA-JP 17 76810604 76810604 single base substitution G A exon_variant BTCA-JP 17 76810604 76810604 single base substitution G A missense_variant R142C 424C>T BTCA-JP 17 76810604 76810604 single base substitution G A missense_variant R352C 1054C>T BTCA-JP 17 76810604 76810604 single base substitution G A missense_variant R52C 154C>T BTCA-JP 17 76823229 76823229 single base substitution G A downstream_gene_variant BTCA-JP 17 76823229 76823229 single base substitution G A intron_variant BTCA-JP 17 76823229 76823229 single base substitution G A synonymous_variant L263L 787C>T BTCA-JP 17 76823229 76823229 single base substitution G A upstream_gene_variant BTCA-JP 17 76831469 76831469 single base substitution C T 3_prime_UTR_variant BTCA-JP 17 76831469 76831469 single base substitution C T downstream_gene_variant BTCA-JP 17 76831469 76831469 single base substitution C T exon_variant BTCA-JP 17 76831469 76831469 single base substitution C T missense_variant G123E 368G>A CESC-US 17 76794610 76794610 single base substitution C G downstream_gene_variant CESC-US 17 76794610 76794610 single base substitution C G exon_variant CESC-US 17 76794610 76794610 single base substitution C G missense_variant K1088N 3264G>C CESC-US 17 76794610 76794610 single base substitution C G missense_variant K33N 99G>C CESC-US 17 76794610 76794610 single base substitution C G missense_variant K65N 195G>C CESC-US 17 76794610 76794610 single base substitution C G missense_variant K693N 2079G>C CESC-US 17 76794610 76794610 single base substitution C G upstream_gene_variant CESC-US 17 76799495 76799495 single base substitution C T downstream_gene_variant CESC-US 17 76799495 76799495 single base substitution C T exon_variant CESC-US 17 76799495 76799495 single base substitution C T missense_variant G533S 1597G>A CESC-US 17 76799495 76799495 single base substitution C T missense_variant G928S 2782G>A CESC-US 17 76799495 76799495 single base substitution C T upstream_gene_variant CLLE-ES 17 76786566 76786566 single base substitution G T downstream_gene_variant CLLE-ES 17 76786566 76786566 single base substitution G T intron_variant CLLE-ES 17 76802665 76802665 single base substitution G C downstream_gene_variant CLLE-ES 17 76802665 76802665 single base substitution G C intron_variant CLLE-ES 17 76819317 76819317 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant CLLE-ES 17 76819317 76819317 single base substitution T A downstream_gene_variant CLLE-ES 17 76819317 76819317 single base substitution T A intron_variant CLLE-ES 17 76819317 76819317 single base substitution T A upstream_gene_variant COAD-US 17 76798549 76798554 deletion of <=200bp TTTTTC - disruptive_inframe_deletion KKK563K COAD-US 17 76798549 76798554 deletion of <=200bp TTTTTC - disruptive_inframe_deletion KKK958K COAD-US 17 76798549 76798554 deletion of <=200bp TTTTTC - exon_variant COAD-US 17 76798549 76798554 deletion of <=200bp TTTTTC - upstream_gene_variant COAD-US 17 76799861 76799861 deletion of <=200bp G - downstream_gene_variant COAD-US 17 76799861 76799861 deletion of <=200bp G - exon_variant COAD-US 17 76799861 76799861 deletion of <=200bp G - frameshift_variant Q806 COAD-US 17 76799861 76799861 deletion of <=200bp G - intron_variant COAD-US 17 76799861 76799861 deletion of <=200bp G - upstream_gene_variant COAD-US 17 76803062 76803062 deletion of <=200bp T - downstream_gene_variant COAD-US 17 76803062 76803062 deletion of <=200bp T - exon_variant COAD-US 17 76803062 76803062 deletion of <=200bp T - frameshift_variant K388 COAD-US 17 76803062 76803062 deletion of <=200bp T - frameshift_variant K688 COAD-US 17 76814782 76814782 single base substitution G A downstream_gene_variant COAD-US 17 76814782 76814782 single base substitution G A exon_variant COAD-US 17 76814782 76814782 single base substitution G A synonymous_variant R120R 360C>T COAD-US 17 76814782 76814782 single base substitution G A synonymous_variant R30R 90C>T COAD-US 17 76814782 76814782 single base substitution G A synonymous_variant R330R 990C>T COAD-US 17 76816086 76816086 single base substitution C T 5_prime_UTR_variant COAD-US 17 76816086 76816086 single base substitution C T downstream_gene_variant COAD-US 17 76816086 76816086 single base substitution C T exon_variant COAD-US 17 76816086 76816086 single base substitution C T synonymous_variant A279A 837G>A COAD-US 17 76816086 76816086 single base substitution C T synonymous_variant A69A 207G>A COAD-US 17 76816086 76816086 single base substitution C T upstream_gene_variant COAD-US 17 76817090 76817090 single base substitution C T 5_prime_UTR_variant COAD-US 17 76817090 76817090 single base substitution C T downstream_gene_variant COAD-US 17 76817090 76817090 single base substitution C T exon_variant COAD-US 17 76817090 76817090 single base substitution C T missense_variant V271I 811G>A COAD-US 17 76817090 76817090 single base substitution C T missense_variant V61I 181G>A COAD-US 17 76817090 76817090 single base substitution C T upstream_gene_variant COAD-US 17 76817105 76817105 single base substitution C T 5_prime_UTR_variant COAD-US 17 76817105 76817105 single base substitution C T downstream_gene_variant COAD-US 17 76817105 76817105 single base substitution C T exon_variant COAD-US 17 76817105 76817105 single base substitution C T missense_variant D266N 796G>A COAD-US 17 76817105 76817105 single base substitution C T missense_variant D56N 166G>A COAD-US 17 76817105 76817105 single base substitution C T upstream_gene_variant COAD-US 17 76825006 76825006 single base substitution G A 5_prime_UTR_variant COAD-US 17 76825006 76825006 single base substitution G A downstream_gene_variant COAD-US 17 76825006 76825006 single base substitution G A exon_variant COAD-US 17 76825006 76825006 single base substitution G A missense_variant P187S 559C>T COAD-US 17 76825030 76825030 single base substitution C T 5_prime_UTR_variant COAD-US 17 76825030 76825030 single base substitution C T downstream_gene_variant COAD-US 17 76825030 76825030 single base substitution C T exon_variant COAD-US 17 76825030 76825030 single base substitution C T missense_variant A179T 535G>A COCA-CN 17 76794907 76794907 single base substitution C T downstream_gene_variant COCA-CN 17 76794907 76794907 single base substitution C T intron_variant COCA-CN 17 76794907 76794907 single base substitution C T upstream_gene_variant COCA-CN 17 76795388 76795388 single base substitution G A downstream_gene_variant COCA-CN 17 76795388 76795388 single base substitution G A intron_variant COCA-CN 17 76795388 76795388 single base substitution G A upstream_gene_variant COCA-CN 17 76795674 76795674 single base substitution A G downstream_gene_variant COCA-CN 17 76795674 76795674 single base substitution A G intron_variant COCA-CN 17 76795674 76795674 single base substitution A G upstream_gene_variant COCA-CN 17 76799491 76799491 single base substitution A G downstream_gene_variant COCA-CN 17 76799491 76799491 single base substitution A G exon_variant COCA-CN 17 76799491 76799491 single base substitution A G missense_variant L534P 1601T>C COCA-CN 17 76799491 76799491 single base substitution A G missense_variant L929P 2786T>C COCA-CN 17 76799491 76799491 single base substitution A G upstream_gene_variant COCA-CN 17 76799572 76799572 single base substitution C A downstream_gene_variant COCA-CN 17 76799572 76799572 single base substitution C A exon_variant COCA-CN 17 76799572 76799572 single base substitution C A missense_variant G507V 1520G>T COCA-CN 17 76799572 76799572 single base substitution C A missense_variant G902V 2705G>T COCA-CN 17 76799572 76799572 single base substitution C A upstream_gene_variant COCA-CN 17 76809161 76809161 single base substitution C T intron_variant COCA-CN 17 76810600 76810600 single base substitution G A downstream_gene_variant COCA-CN 17 76810600 76810600 single base substitution G A exon_variant COCA-CN 17 76810600 76810600 single base substitution G A missense_variant P143L 428C>T COCA-CN 17 76810600 76810600 single base substitution G A missense_variant P353L 1058C>T COCA-CN 17 76810600 76810600 single base substitution G A missense_variant P53L 158C>T COCA-CN 17 76816171 76816171 single base substitution C A downstream_gene_variant COCA-CN 17 76816171 76816171 single base substitution C A intron_variant COCA-CN 17 76816171 76816171 single base substitution C A upstream_gene_variant COCA-CN 17 76817971 76817971 single base substitution C A downstream_gene_variant COCA-CN 17 76817971 76817971 single base substitution C A intron_variant COCA-CN 17 76817971 76817971 single base substitution C A upstream_gene_variant COCA-CN 17 76818149 76818149 single base substitution A G 5_prime_UTR_variant COCA-CN 17 76818149 76818149 single base substitution A G downstream_gene_variant COCA-CN 17 76818149 76818149 single base substitution A G intron_variant COCA-CN 17 76818149 76818149 single base substitution A G upstream_gene_variant EOPC-DE 17 76783953 76783953 single base substitution C T downstream_gene_variant EOPC-DE 17 76783953 76783953 single base substitution C T intron_variant EOPC-DE 17 76784784 76784784 single base substitution G C downstream_gene_variant EOPC-DE 17 76784784 76784784 single base substitution G C intron_variant ESAD-UK 17 76780167 76780167 single base substitution T C downstream_gene_variant ESAD-UK 17 76781772 76781772 insertion of <=200bp - TTTA downstream_gene_variant ESAD-UK 17 76781927 76781927 single base substitution G A downstream_gene_variant ESAD-UK 17 76782373 76782373 single base substitution A G downstream_gene_variant ESAD-UK 17 76785327 76785327 single base substitution C T downstream_gene_variant ESAD-UK 17 76785327 76785327 single base substitution C T intron_variant ESAD-UK 17 76785386 76785386 single base substitution A T downstream_gene_variant ESAD-UK 17 76785386 76785386 single base substitution A T intron_variant ESAD-UK 17 76786557 76786557 single base substitution T C downstream_gene_variant ESAD-UK 17 76786557 76786557 single base substitution T C intron_variant ESAD-UK 17 76790000 76790000 single base substitution A C downstream_gene_variant ESAD-UK 17 76790000 76790000 single base substitution A C intron_variant ESAD-UK 17 76790610 76790610 single base substitution C A downstream_gene_variant ESAD-UK 17 76790610 76790610 single base substitution C A intron_variant ESAD-UK 17 76790611 76790611 single base substitution C G downstream_gene_variant ESAD-UK 17 76790611 76790611 single base substitution C G intron_variant ESAD-UK 17 76793527 76793527 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 76793527 76793527 single base substitution C T intron_variant ESAD-UK 17 76793527 76793527 single base substitution C T upstream_gene_variant ESAD-UK 17 76801173 76801173 single base substitution C A downstream_gene_variant ESAD-UK 17 76801173 76801173 single base substitution C A intron_variant ESAD-UK 17 76803051 76803051 single base substitution G A downstream_gene_variant ESAD-UK 17 76803051 76803051 single base substitution G A exon_variant ESAD-UK 17 76803051 76803051 single base substitution G A missense_variant S392F 1175C>T ESAD-UK 17 76803051 76803051 single base substitution G A missense_variant S692F 2075C>T ESAD-UK 17 76804988 76804988 single base substitution T A downstream_gene_variant ESAD-UK 17 76804988 76804988 single base substitution T A intron_variant ESAD-UK 17 76808216 76808216 single base substitution C G downstream_gene_variant ESAD-UK 17 76808216 76808216 single base substitution C G intron_variant ESAD-UK 17 76808498 76808498 single base substitution G A downstream_gene_variant ESAD-UK 17 76808498 76808498 single base substitution G A intron_variant ESAD-UK 17 76810187 76810187 single base substitution G C downstream_gene_variant ESAD-UK 17 76810187 76810187 single base substitution G C intron_variant ESAD-UK 17 76823558 76823558 single base substitution G A downstream_gene_variant ESAD-UK 17 76823558 76823558 single base substitution G A intron_variant ESAD-UK 17 76823558 76823558 single base substitution G A upstream_gene_variant ESAD-UK 17 76824586 76824586 single base substitution G T downstream_gene_variant ESAD-UK 17 76824586 76824586 single base substitution G T intron_variant ESAD-UK 17 76826897 76826897 insertion of <=200bp - T intron_variant ESAD-UK 17 76826897 76826897 insertion of <=200bp - T upstream_gene_variant ESAD-UK 17 76829237 76829237 single base substitution C T downstream_gene_variant ESAD-UK 17 76829237 76829237 single base substitution C T intron_variant ESAD-UK 17 76829237 76829237 single base substitution C T upstream_gene_variant ESAD-UK 17 76831771 76831771 single base substitution G A downstream_gene_variant ESAD-UK 17 76831771 76831771 single base substitution G A intron_variant ESAD-UK 17 76834628 76834628 single base substitution T C intron_variant ESAD-UK 17 76834976 76834976 single base substitution G T intron_variant ESAD-UK 17 76834976 76834976 single base substitution G T upstream_gene_variant ESAD-UK 17 76836301 76836301 single base substitution C T intron_variant ESAD-UK 17 76836301 76836301 single base substitution C T upstream_gene_variant GACA-CN 17 76794561 76794561 single base substitution G A downstream_gene_variant GACA-CN 17 76794561 76794561 single base substitution G A exon_variant GACA-CN 17 76794561 76794561 single base substitution G A missense_variant R1105W 3313C>T GACA-CN 17 76794561 76794561 single base substitution G A missense_variant R50W 148C>T GACA-CN 17 76794561 76794561 single base substitution G A missense_variant R710W 2128C>T GACA-CN 17 76794561 76794561 single base substitution G A missense_variant R82W 244C>T GACA-CN 17 76794561 76794561 single base substitution G A upstream_gene_variant KIRC-US 17 76795062 76795062 single base substitution A C downstream_gene_variant KIRC-US 17 76795062 76795062 single base substitution A C exon_variant KIRC-US 17 76795062 76795062 single base substitution A C synonymous_variant A1056A 3168T>G KIRC-US 17 76795062 76795062 single base substitution A C synonymous_variant A1A 3T>G KIRC-US 17 76795062 76795062 single base substitution A C synonymous_variant A33A 99T>G KIRC-US 17 76795062 76795062 single base substitution A C synonymous_variant A661A 1983T>G KIRC-US 17 76795062 76795062 single base substitution A C upstream_gene_variant KIRC-US 17 76810621 76810621 single base substitution G A downstream_gene_variant KIRC-US 17 76810621 76810621 single base substitution G A exon_variant KIRC-US 17 76810621 76810621 single base substitution G A missense_variant P136L 407C>T KIRC-US 17 76810621 76810621 single base substitution G A missense_variant P346L 1037C>T KIRC-US 17 76810621 76810621 single base substitution G A missense_variant P46L 137C>T KIRC-US 17 76824985 76824985 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant KIRC-US 17 76824985 76824985 single base substitution G T downstream_gene_variant KIRC-US 17 76824985 76824985 single base substitution G T exon_variant KIRC-US 17 76824985 76824985 single base substitution G T missense_variant L194M 580C>A LAML-KR 17 76794981 76794981 single base substitution A G downstream_gene_variant LAML-KR 17 76794981 76794981 single base substitution A G intron_variant LAML-KR 17 76794981 76794981 single base substitution A G upstream_gene_variant LGG-US 17 76832339 76832339 single base substitution A G exon_variant LGG-US 17 76832339 76832339 single base substitution A G missense_variant L36P 107T>C LGG-US 17 76832339 76832339 single base substitution A G splice_region_variant LICA-CN 17 76810550 76810550 single base substitution C G downstream_gene_variant LICA-CN 17 76810550 76810550 single base substitution C G exon_variant LICA-CN 17 76810550 76810550 single base substitution C G missense_variant V160L 478G>C LICA-CN 17 76810550 76810550 single base substitution C G missense_variant V370L 1108G>C LICA-CN 17 76810550 76810550 single base substitution C G missense_variant V70L 208G>C LICA-CN 17 76810600 76810600 single base substitution G A downstream_gene_variant LICA-CN 17 76810600 76810600 single base substitution G A exon_variant LICA-CN 17 76810600 76810600 single base substitution G A missense_variant P143L 428C>T LICA-CN 17 76810600 76810600 single base substitution G A missense_variant P353L 1058C>T LICA-CN 17 76810600 76810600 single base substitution G A missense_variant P53L 158C>T LICA-FR 17 76784393 76784393 single base substitution T C downstream_gene_variant LICA-FR 17 76784393 76784393 single base substitution T C intron_variant LICA-FR 17 76805390 76805390 single base substitution T C downstream_gene_variant LICA-FR 17 76805390 76805390 single base substitution T C intron_variant LIHC-US 17 76799931 76799931 single base substitution C A downstream_gene_variant LIHC-US 17 76799931 76799931 single base substitution C A exon_variant LIHC-US 17 76799931 76799931 single base substitution C A intron_variant LIHC-US 17 76799931 76799931 single base substitution C A synonymous_variant T782T 2346G>T LIHC-US 17 76799931 76799931 single base substitution C A upstream_gene_variant LIHC-US 17 76802273 76802273 single base substitution G A downstream_gene_variant LIHC-US 17 76802273 76802273 single base substitution G A exon_variant LIHC-US 17 76802273 76802273 single base substitution G A synonymous_variant P427P 1281C>T LIHC-US 17 76802273 76802273 single base substitution G A synonymous_variant P727P 2181C>T LIHC-US 17 76810529 76810529 single base substitution T C downstream_gene_variant LIHC-US 17 76810529 76810529 single base substitution T C exon_variant LIHC-US 17 76810529 76810529 single base substitution T C missense_variant S167G 499A>G LIHC-US 17 76810529 76810529 single base substitution T C missense_variant S377G 1129A>G LIHC-US 17 76810529 76810529 single base substitution T C missense_variant S77G 229A>G LINC-JP 17 76791367 76791367 single base substitution A C downstream_gene_variant LINC-JP 17 76791367 76791367 single base substitution A C intron_variant LINC-JP 17 76792989 76792989 single base substitution T C 3_prime_UTR_variant LINC-JP 17 76792989 76792989 single base substitution T C exon_variant LINC-JP 17 76792989 76792989 single base substitution T C intron_variant LINC-JP 17 76799826 76799826 single base substitution C A downstream_gene_variant LINC-JP 17 76799826 76799826 single base substitution C A exon_variant LINC-JP 17 76799826 76799826 single base substitution C A intron_variant LINC-JP 17 76799826 76799826 single base substitution C A synonymous_variant V817V 2451G>T LINC-JP 17 76799826 76799826 single base substitution C A upstream_gene_variant LINC-JP 17 76801830 76801830 single base substitution C T downstream_gene_variant LINC-JP 17 76801830 76801830 single base substitution C T intron_variant LINC-JP 17 76807944 76807944 single base substitution C T downstream_gene_variant LINC-JP 17 76807944 76807944 single base substitution C T intron_variant LINC-JP 17 76815816 76815816 single base substitution T A downstream_gene_variant LINC-JP 17 76815816 76815816 single base substitution T A intron_variant LINC-JP 17 76815816 76815816 single base substitution T A upstream_gene_variant LINC-JP 17 76817206 76817206 single base substitution A G downstream_gene_variant LINC-JP 17 76817206 76817206 single base substitution A G exon_variant LINC-JP 17 76817206 76817206 single base substitution A G intron_variant LINC-JP 17 76817206 76817206 single base substitution A G upstream_gene_variant LINC-JP 17 76834328 76834328 single base substitution G A intron_variant LINC-JP 17 76841736 76841736 single base substitution T C upstream_gene_variant LIRI-JP 17 76778740 76778740 single base substitution T C downstream_gene_variant LIRI-JP 17 76782698 76782698 single base substitution T G downstream_gene_variant LIRI-JP 17 76782720 76782720 single base substitution C T downstream_gene_variant LIRI-JP 17 76782867 76782867 single base substitution C A downstream_gene_variant LIRI-JP 17 76785374 76785374 single base substitution A G downstream_gene_variant LIRI-JP 17 76785374 76785374 single base substitution A G intron_variant LIRI-JP 17 76787500 76787500 single base substitution C T downstream_gene_variant LIRI-JP 17 76787500 76787500 single base substitution C T intron_variant LIRI-JP 17 76788103 76788103 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 76788103 76788103 single base substitution T C downstream_gene_variant LIRI-JP 17 76788103 76788103 single base substitution T C intron_variant LIRI-JP 17 76790944 76790944 single base substitution T A downstream_gene_variant LIRI-JP 17 76790944 76790944 single base substitution T A intron_variant LIRI-JP 17 76791411 76791411 single base substitution T C downstream_gene_variant LIRI-JP 17 76791411 76791411 single base substitution T C intron_variant LIRI-JP 17 76795713 76795713 single base substitution G A downstream_gene_variant LIRI-JP 17 76795713 76795713 single base substitution G A intron_variant LIRI-JP 17 76795713 76795713 single base substitution G A upstream_gene_variant LIRI-JP 17 76796960 76796960 single base substitution T C downstream_gene_variant LIRI-JP 17 76796960 76796960 single base substitution T C intron_variant LIRI-JP 17 76796960 76796960 single base substitution T C upstream_gene_variant LIRI-JP 17 76799859 76799859 insertion of <=200bp - C downstream_gene_variant LIRI-JP 17 76799859 76799859 insertion of <=200bp - C exon_variant LIRI-JP 17 76799859 76799859 insertion of <=200bp - C frameshift_variant Q806Q? LIRI-JP 17 76799859 76799859 insertion of <=200bp - C intron_variant LIRI-JP 17 76799859 76799859 insertion of <=200bp - C upstream_gene_variant LIRI-JP 17 76802127 76802127 single base substitution T C downstream_gene_variant LIRI-JP 17 76802127 76802127 single base substitution T C intron_variant LIRI-JP 17 76805849 76805849 single base substitution C T downstream_gene_variant LIRI-JP 17 76805849 76805849 single base substitution C T intron_variant LIRI-JP 17 76806665 76806665 single base substitution G C downstream_gene_variant LIRI-JP 17 76806665 76806665 single base substitution G C intron_variant LIRI-JP 17 76807026 76807026 single base substitution T C downstream_gene_variant LIRI-JP 17 76807026 76807026 single base substitution T C intron_variant LIRI-JP 17 76807824 76807824 single base substitution C T downstream_gene_variant LIRI-JP 17 76807824 76807824 single base substitution C T intron_variant LIRI-JP 17 76808071 76808071 single base substitution G T downstream_gene_variant LIRI-JP 17 76808071 76808071 single base substitution G T intron_variant LIRI-JP 17 76809200 76809200 single base substitution A T intron_variant LIRI-JP 17 76809871 76809871 single base substitution C T downstream_gene_variant LIRI-JP 17 76809871 76809871 single base substitution C T exon_variant LIRI-JP 17 76809871 76809871 single base substitution C T missense_variant V117M 349G>A LIRI-JP 17 76809871 76809871 single base substitution C T missense_variant V207M 619G>A LIRI-JP 17 76809871 76809871 single base substitution C T missense_variant V417M 1249G>A LIRI-JP 17 76815238 76815238 single base substitution C T downstream_gene_variant LIRI-JP 17 76815238 76815238 single base substitution C T intron_variant LIRI-JP 17 76815238 76815238 single base substitution C T upstream_gene_variant LIRI-JP 17 76816628 76816628 single base substitution T A downstream_gene_variant LIRI-JP 17 76816628 76816628 single base substitution T A intron_variant LIRI-JP 17 76816628 76816628 single base substitution T A upstream_gene_variant LIRI-JP 17 76819100 76819100 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 17 76819100 76819100 single base substitution C T downstream_gene_variant LIRI-JP 17 76819100 76819100 single base substitution C T intron_variant LIRI-JP 17 76819100 76819100 single base substitution C T upstream_gene_variant LIRI-JP 17 76821084 76821084 single base substitution T C downstream_gene_variant LIRI-JP 17 76821084 76821084 single base substitution T C intron_variant LIRI-JP 17 76821084 76821084 single base substitution T C upstream_gene_variant LIRI-JP 17 76821599 76821599 single base substitution C A downstream_gene_variant LIRI-JP 17 76821599 76821599 single base substitution C A intron_variant LIRI-JP 17 76821599 76821599 single base substitution C A upstream_gene_variant LIRI-JP 17 76821600 76821600 single base substitution C A downstream_gene_variant LIRI-JP 17 76821600 76821600 single base substitution C A intron_variant LIRI-JP 17 76821600 76821600 single base substitution C A upstream_gene_variant LIRI-JP 17 76821637 76821637 single base substitution C T downstream_gene_variant LIRI-JP 17 76821637 76821637 single base substitution C T intron_variant LIRI-JP 17 76821637 76821637 single base substitution C T upstream_gene_variant LIRI-JP 17 76822348 76822348 single base substitution A G downstream_gene_variant LIRI-JP 17 76822348 76822348 single base substitution A G intron_variant LIRI-JP 17 76822348 76822348 single base substitution A G upstream_gene_variant LIRI-JP 17 76822401 76822401 single base substitution G A downstream_gene_variant LIRI-JP 17 76822401 76822401 single base substitution G A intron_variant LIRI-JP 17 76822401 76822401 single base substitution G A upstream_gene_variant LIRI-JP 17 76823150 76823150 single base substitution G A 3_prime_UTR_variant LIRI-JP 17 76823150 76823150 single base substitution G A downstream_gene_variant LIRI-JP 17 76823150 76823150 single base substitution G A intron_variant LIRI-JP 17 76823150 76823150 single base substitution G A upstream_gene_variant LIRI-JP 17 76827015 76827018 deletion of <=200bp AAAG - intron_variant LIRI-JP 17 76827015 76827018 deletion of <=200bp AAAG - upstream_gene_variant LIRI-JP 17 76830941 76830941 single base substitution T C downstream_gene_variant LIRI-JP 17 76830941 76830941 single base substitution T C intron_variant LIRI-JP 17 76831447 76831447 single base substitution G A 3_prime_UTR_variant LIRI-JP 17 76831447 76831447 single base substitution G A downstream_gene_variant LIRI-JP 17 76831447 76831447 single base substitution G A exon_variant LIRI-JP 17 76831447 76831447 single base substitution G A synonymous_variant T130T 390C>T LIRI-JP 17 76831842 76831842 single base substitution A C downstream_gene_variant LIRI-JP 17 76831842 76831842 single base substitution A C intron_variant LIRI-JP 17 76832180 76832180 single base substitution T C downstream_gene_variant LIRI-JP 17 76832180 76832180 single base substitution T C exon_variant LIRI-JP 17 76832180 76832180 single base substitution T C intron_variant LIRI-JP 17 76832838 76832838 single base substitution G A intron_variant LIRI-JP 17 76834409 76834409 single base substitution G A intron_variant LIRI-JP 17 76838709 76838709 single base substitution C T upstream_gene_variant LIRI-JP 17 76840505 76840505 single base substitution C A upstream_gene_variant LIRI-JP 17 76842250 76842250 single base substitution C T upstream_gene_variant LUSC-KR 17 76782699 76782699 single base substitution C T downstream_gene_variant LUSC-KR 17 76784018 76784018 single base substitution T C downstream_gene_variant LUSC-KR 17 76784018 76784018 single base substitution T C intron_variant LUSC-KR 17 76784729 76784729 single base substitution C G downstream_gene_variant LUSC-KR 17 76784729 76784729 single base substitution C G intron_variant LUSC-KR 17 76785257 76785257 single base substitution C A downstream_gene_variant LUSC-KR 17 76785257 76785257 single base substitution C A intron_variant LUSC-KR 17 76786489 76786489 single base substitution C T downstream_gene_variant LUSC-KR 17 76786489 76786489 single base substitution C T intron_variant LUSC-KR 17 76787460 76787460 single base substitution C A downstream_gene_variant LUSC-KR 17 76787460 76787460 single base substitution C A intron_variant LUSC-KR 17 76792379 76792379 single base substitution C G 3_prime_UTR_variant LUSC-KR 17 76792379 76792379 single base substitution C G downstream_gene_variant LUSC-KR 17 76792379 76792379 single base substitution C G intron_variant LUSC-KR 17 76793096 76793096 single base substitution C A 3_prime_UTR_variant LUSC-KR 17 76793096 76793096 single base substitution C A exon_variant LUSC-KR 17 76793096 76793096 single base substitution C A intron_variant LUSC-KR 17 76793355 76793355 single base substitution G A 3_prime_UTR_variant LUSC-KR 17 76793355 76793355 single base substitution G A intron_variant LUSC-KR 17 76793355 76793355 single base substitution G A upstream_gene_variant LUSC-KR 17 76795805 76795805 single base substitution G C downstream_gene_variant LUSC-KR 17 76795805 76795805 single base substitution G C exon_variant LUSC-KR 17 76795805 76795805 single base substitution G C missense_variant S1023C 3068C>G LUSC-KR 17 76795805 76795805 single base substitution G C missense_variant S628C 1883C>G LUSC-KR 17 76795805 76795805 single base substitution G C upstream_gene_variant LUSC-KR 17 76796831 76796831 single base substitution C A downstream_gene_variant LUSC-KR 17 76796831 76796831 single base substitution C A intron_variant LUSC-KR 17 76796831 76796831 single base substitution C A upstream_gene_variant LUSC-KR 17 76798700 76798700 single base substitution G A downstream_gene_variant LUSC-KR 17 76798700 76798700 single base substitution G A intron_variant LUSC-KR 17 76798700 76798700 single base substitution G A upstream_gene_variant LUSC-KR 17 76802223 76802223 single base substitution C T downstream_gene_variant LUSC-KR 17 76802223 76802223 single base substitution C T intron_variant LUSC-KR 17 76808237 76808237 single base substitution C G downstream_gene_variant LUSC-KR 17 76808237 76808237 single base substitution C G intron_variant LUSC-KR 17 76808596 76808596 single base substitution C A downstream_gene_variant LUSC-KR 17 76808596 76808596 single base substitution C A intron_variant LUSC-KR 17 76808806 76808806 single base substitution G A downstream_gene_variant LUSC-KR 17 76808806 76808806 single base substitution G A intron_variant LUSC-KR 17 76814284 76814284 single base substitution C T downstream_gene_variant LUSC-KR 17 76814284 76814284 single base substitution C T intron_variant LUSC-KR 17 76816199 76816199 single base substitution G A downstream_gene_variant LUSC-KR 17 76816199 76816199 single base substitution G A intron_variant LUSC-KR 17 76816199 76816199 single base substitution G A upstream_gene_variant LUSC-KR 17 76816986 76816986 single base substitution C G downstream_gene_variant LUSC-KR 17 76816986 76816986 single base substitution C G intron_variant LUSC-KR 17 76816986 76816986 single base substitution C G upstream_gene_variant LUSC-KR 17 76817939 76817939 single base substitution C T downstream_gene_variant LUSC-KR 17 76817939 76817939 single base substitution C T intron_variant LUSC-KR 17 76817939 76817939 single base substitution C T upstream_gene_variant LUSC-KR 17 76818491 76818491 single base substitution C A 5_prime_UTR_variant LUSC-KR 17 76818491 76818491 single base substitution C A downstream_gene_variant LUSC-KR 17 76818491 76818491 single base substitution C A intron_variant LUSC-KR 17 76818491 76818491 single base substitution C A upstream_gene_variant LUSC-KR 17 76820227 76820227 single base substitution C T downstream_gene_variant LUSC-KR 17 76820227 76820227 single base substitution C T intron_variant LUSC-KR 17 76820227 76820227 single base substitution C T upstream_gene_variant LUSC-KR 17 76821492 76821492 single base substitution T C downstream_gene_variant LUSC-KR 17 76821492 76821492 single base substitution T C intron_variant LUSC-KR 17 76821492 76821492 single base substitution T C upstream_gene_variant LUSC-KR 17 76821565 76821565 single base substitution C T downstream_gene_variant LUSC-KR 17 76821565 76821565 single base substitution C T intron_variant LUSC-KR 17 76821565 76821565 single base substitution C T upstream_gene_variant LUSC-KR 17 76821996 76821996 single base substitution C A downstream_gene_variant LUSC-KR 17 76821996 76821996 single base substitution C A intron_variant LUSC-KR 17 76821996 76821996 single base substitution C A upstream_gene_variant LUSC-KR 17 76823658 76823658 single base substitution G T downstream_gene_variant LUSC-KR 17 76823658 76823658 single base substitution G T intron_variant LUSC-KR 17 76823658 76823658 single base substitution G T upstream_gene_variant LUSC-KR 17 76824773 76824773 single base substitution C A downstream_gene_variant LUSC-KR 17 76824773 76824773 single base substitution C A intron_variant LUSC-KR 17 76837082 76837082 single base substitution C T intron_variant LUSC-KR 17 76837082 76837082 single base substitution C T upstream_gene_variant LUSC-US 17 76795011 76795011 single base substitution G A downstream_gene_variant LUSC-US 17 76795011 76795011 single base substitution G A exon_variant LUSC-US 17 76795011 76795011 single base substitution G A synonymous_variant D1073D 3219C>T LUSC-US 17 76795011 76795011 single base substitution G A synonymous_variant D18D 54C>T LUSC-US 17 76795011 76795011 single base substitution G A synonymous_variant D50D 150C>T LUSC-US 17 76795011 76795011 single base substitution G A synonymous_variant D678D 2034C>T LUSC-US 17 76795011 76795011 single base substitution G A upstream_gene_variant LUSC-US 17 76795029 76795029 single base substitution G A downstream_gene_variant LUSC-US 17 76795029 76795029 single base substitution G A exon_variant LUSC-US 17 76795029 76795029 single base substitution G A synonymous_variant T1067T 3201C>T LUSC-US 17 76795029 76795029 single base substitution G A synonymous_variant T12T 36C>T LUSC-US 17 76795029 76795029 single base substitution G A synonymous_variant T44T 132C>T LUSC-US 17 76795029 76795029 single base substitution G A synonymous_variant T672T 2016C>T LUSC-US 17 76795029 76795029 single base substitution G A upstream_gene_variant LUSC-US 17 76817074 76817074 single base substitution C A downstream_gene_variant LUSC-US 17 76817074 76817074 single base substitution C A missense_variant R276L 827G>T LUSC-US 17 76817074 76817074 single base substitution C A missense_variant R66L 197G>T LUSC-US 17 76817074 76817074 single base substitution C A splice_region_variant LUSC-US 17 76817074 76817074 single base substitution C A upstream_gene_variant LUSC-US 17 76831437 76831437 single base substitution T C 3_prime_UTR_variant LUSC-US 17 76831437 76831437 single base substitution T C downstream_gene_variant LUSC-US 17 76831437 76831437 single base substitution T C exon_variant LUSC-US 17 76831437 76831437 single base substitution T C missense_variant N134D 400A>G LUSC-US 17 76831522 76831522 single base substitution G A downstream_gene_variant LUSC-US 17 76831522 76831522 single base substitution G A exon_variant LUSC-US 17 76831522 76831522 single base substitution G A synonymous_variant F105F 315C>T LUSC-US 17 76831527 76831527 single base substitution G A downstream_gene_variant LUSC-US 17 76831527 76831527 single base substitution G A exon_variant LUSC-US 17 76831527 76831527 single base substitution G A missense_variant L104F 310C>T MALY-DE 17 76808720 76808720 single base substitution C G downstream_gene_variant MALY-DE 17 76808720 76808720 single base substitution C G intron_variant MALY-DE 17 76812691 76812691 single base substitution G A downstream_gene_variant MALY-DE 17 76812691 76812691 single base substitution G A intron_variant MALY-DE 17 76831960 76831960 single base substitution G A downstream_gene_variant MALY-DE 17 76831960 76831960 single base substitution G A intron_variant MALY-DE 17 76835979 76835979 single base substitution T A intron_variant MALY-DE 17 76835979 76835979 single base substitution T A upstream_gene_variant MALY-DE 17 76836414 76836414 single base substitution G A intron_variant MALY-DE 17 76836414 76836414 single base substitution G A upstream_gene_variant MALY-DE 17 76840508 76840509 deletion of <=200bp AC - upstream_gene_variant MELA-AU 17 76779150 76779150 single base substitution C A downstream_gene_variant MELA-AU 17 76779879 76779879 single base substitution A T downstream_gene_variant MELA-AU 17 76781061 76781061 single base substitution C T downstream_gene_variant MELA-AU 17 76782123 76782123 single base substitution G A downstream_gene_variant MELA-AU 17 76782551 76782551 single base substitution G A downstream_gene_variant MELA-AU 17 76783137 76783137 single base substitution A C downstream_gene_variant MELA-AU 17 76783311 76783311 single base substitution G A downstream_gene_variant MELA-AU 17 76783638 76783638 single base substitution G A 3_prime_UTR_variant MELA-AU 17 76783638 76783638 single base substitution G A downstream_gene_variant MELA-AU 17 76784199 76784199 single base substitution G A downstream_gene_variant MELA-AU 17 76784199 76784199 single base substitution G A intron_variant MELA-AU 17 76784522 76784522 single base substitution G A downstream_gene_variant MELA-AU 17 76784522 76784522 single base substitution G A intron_variant MELA-AU 17 76784807 76784807 single base substitution G A downstream_gene_variant MELA-AU 17 76784807 76784807 single base substitution G A intron_variant MELA-AU 17 76785064 76785064 single base substitution G A downstream_gene_variant MELA-AU 17 76785064 76785064 single base substitution G A intron_variant MELA-AU 17 76786120 76786120 single base substitution G A downstream_gene_variant MELA-AU 17 76786120 76786120 single base substitution G A intron_variant MELA-AU 17 76786595 76786595 single base substitution G A downstream_gene_variant MELA-AU 17 76786595 76786595 single base substitution G A intron_variant MELA-AU 17 76788190 76788190 single base substitution G A downstream_gene_variant MELA-AU 17 76788190 76788190 single base substitution G A intron_variant MELA-AU 17 76788670 76788670 single base substitution G A downstream_gene_variant MELA-AU 17 76788670 76788670 single base substitution G A intron_variant MELA-AU 17 76789109 76789109 single base substitution C T downstream_gene_variant MELA-AU 17 76789109 76789109 single base substitution C T intron_variant MELA-AU 17 76790170 76790170 single base substitution T A downstream_gene_variant MELA-AU 17 76790170 76790170 single base substitution T A intron_variant MELA-AU 17 76790534 76790534 single base substitution G C downstream_gene_variant MELA-AU 17 76790534 76790534 single base substitution G C intron_variant MELA-AU 17 76790644 76790644 single base substitution C T downstream_gene_variant MELA-AU 17 76790644 76790644 single base substitution C T intron_variant MELA-AU 17 76790735 76790735 single base substitution G A downstream_gene_variant MELA-AU 17 76790735 76790735 single base substitution G A intron_variant MELA-AU 17 76791091 76791091 single base substitution G A downstream_gene_variant MELA-AU 17 76791091 76791091 single base substitution G A intron_variant MELA-AU 17 76791391 76791391 single base substitution G A downstream_gene_variant MELA-AU 17 76791391 76791391 single base substitution G A intron_variant MELA-AU 17 76791712 76791712 single base substitution G A downstream_gene_variant MELA-AU 17 76791712 76791712 single base substitution G A intron_variant MELA-AU 17 76792207 76792208 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 17 76792207 76792208 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 76792207 76792208 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 76792738 76792738 single base substitution G A 3_prime_UTR_variant MELA-AU 17 76792738 76792738 single base substitution G A downstream_gene_variant MELA-AU 17 76792738 76792738 single base substitution G A intron_variant MELA-AU 17 76792855 76792855 single base substitution G A 3_prime_UTR_variant MELA-AU 17 76792855 76792855 single base substitution G A downstream_gene_variant MELA-AU 17 76792855 76792855 single base substitution G A intron_variant MELA-AU 17 76792866 76792866 single base substitution G A 3_prime_UTR_variant MELA-AU 17 76792866 76792866 single base substitution G A downstream_gene_variant MELA-AU 17 76792866 76792866 single base substitution G A intron_variant MELA-AU 17 76793452 76793452 single base substitution C T 3_prime_UTR_variant MELA-AU 17 76793452 76793452 single base substitution C T intron_variant MELA-AU 17 76793452 76793452 single base substitution C T upstream_gene_variant MELA-AU 17 76793481 76793481 single base substitution G A 3_prime_UTR_variant MELA-AU 17 76793481 76793481 single base substitution G A intron_variant MELA-AU 17 76793481 76793481 single base substitution G A upstream_gene_variant MELA-AU 17 76793709 76793709 single base substitution A T 3_prime_UTR_variant MELA-AU 17 76793709 76793709 single base substitution A T downstream_gene_variant MELA-AU 17 76793709 76793709 single base substitution A T intron_variant MELA-AU 17 76793709 76793709 single base substitution A T upstream_gene_variant MELA-AU 17 76793937 76793937 single base substitution G A 3_prime_UTR_variant MELA-AU 17 76793937 76793937 single base substitution G A downstream_gene_variant MELA-AU 17 76793937 76793937 single base substitution G A intron_variant MELA-AU 17 76793937 76793937 single base substitution G A upstream_gene_variant MELA-AU 17 76795237 76795237 single base substitution G A downstream_gene_variant MELA-AU 17 76795237 76795237 single base substitution G A intron_variant MELA-AU 17 76795237 76795237 single base substitution G A upstream_gene_variant MELA-AU 17 76795257 76795258 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 76795257 76795258 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 76795257 76795258 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 76795451 76795451 single base substitution A C downstream_gene_variant MELA-AU 17 76795451 76795451 single base substitution A C intron_variant MELA-AU 17 76795451 76795451 single base substitution A C upstream_gene_variant MELA-AU 17 76795519 76795519 single base substitution A G downstream_gene_variant MELA-AU 17 76795519 76795519 single base substitution A G intron_variant MELA-AU 17 76795519 76795519 single base substitution A G upstream_gene_variant MELA-AU 17 76795688 76795688 single base substitution C T downstream_gene_variant MELA-AU 17 76795688 76795688 single base substitution C T intron_variant MELA-AU 17 76795688 76795688 single base substitution C T upstream_gene_variant MELA-AU 17 76795835 76795835 single base substitution G A downstream_gene_variant MELA-AU 17 76795835 76795835 single base substitution G A exon_variant MELA-AU 17 76795835 76795835 single base substitution G A missense_variant P1013L 3038C>T MELA-AU 17 76795835 76795835 single base substitution G A missense_variant P618L 1853C>T MELA-AU 17 76795835 76795835 single base substitution G A upstream_gene_variant MELA-AU 17 76796056 76796056 single base substitution G A downstream_gene_variant MELA-AU 17 76796056 76796056 single base substitution G A intron_variant MELA-AU 17 76796056 76796056 single base substitution G A upstream_gene_variant MELA-AU 17 76796063 76796063 single base substitution G A downstream_gene_variant MELA-AU 17 76796063 76796063 single base substitution G A intron_variant MELA-AU 17 76796063 76796063 single base substitution G A upstream_gene_variant MELA-AU 17 76796285 76796285 single base substitution G A downstream_gene_variant MELA-AU 17 76796285 76796285 single base substitution G A intron_variant MELA-AU 17 76796285 76796285 single base substitution G A upstream_gene_variant MELA-AU 17 76796641 76796641 single base substitution C T downstream_gene_variant MELA-AU 17 76796641 76796641 single base substitution C T intron_variant MELA-AU 17 76796641 76796641 single base substitution C T upstream_gene_variant MELA-AU 17 76797059 76797059 single base substitution T A downstream_gene_variant MELA-AU 17 76797059 76797059 single base substitution T A intron_variant MELA-AU 17 76797059 76797059 single base substitution T A upstream_gene_variant MELA-AU 17 76797062 76797062 single base substitution T A downstream_gene_variant MELA-AU 17 76797062 76797062 single base substitution T A intron_variant MELA-AU 17 76797062 76797062 single base substitution T A upstream_gene_variant MELA-AU 17 76797455 76797455 single base substitution G A downstream_gene_variant MELA-AU 17 76797455 76797455 single base substitution G A intron_variant MELA-AU 17 76797455 76797455 single base substitution G A upstream_gene_variant MELA-AU 17 76797519 76797519 single base substitution G A downstream_gene_variant MELA-AU 17 76797519 76797519 single base substitution G A intron_variant MELA-AU 17 76797519 76797519 single base substitution G A upstream_gene_variant MELA-AU 17 76797962 76797962 single base substitution C T downstream_gene_variant MELA-AU 17 76797962 76797962 single base substitution C T intron_variant MELA-AU 17 76797962 76797962 single base substitution C T upstream_gene_variant MELA-AU 17 76799029 76799029 single base substitution T C downstream_gene_variant MELA-AU 17 76799029 76799029 single base substitution T C intron_variant MELA-AU 17 76799029 76799029 single base substitution T C upstream_gene_variant MELA-AU 17 76799863 76799863 single base substitution G A downstream_gene_variant MELA-AU 17 76799863 76799863 single base substitution G A exon_variant MELA-AU 17 76799863 76799863 single base substitution G A intron_variant MELA-AU 17 76799863 76799863 single base substitution G A missense_variant P805L 2414C>T MELA-AU 17 76799863 76799863 single base substitution G A upstream_gene_variant MELA-AU 17 76800555 76800555 single base substitution A C downstream_gene_variant MELA-AU 17 76800555 76800555 single base substitution A C intron_variant MELA-AU 17 76800555 76800555 single base substitution A C upstream_gene_variant MELA-AU 17 76800960 76800960 single base substitution C T downstream_gene_variant MELA-AU 17 76800960 76800960 single base substitution C T intron_variant MELA-AU 17 76800969 76800969 single base substitution G A downstream_gene_variant MELA-AU 17 76800969 76800969 single base substitution G A intron_variant MELA-AU 17 76801458 76801458 single base substitution G A downstream_gene_variant MELA-AU 17 76801458 76801458 single base substitution G A intron_variant MELA-AU 17 76801871 76801871 single base substitution C A downstream_gene_variant MELA-AU 17 76801871 76801871 single base substitution C A intron_variant MELA-AU 17 76802973 76802973 single base substitution A T downstream_gene_variant MELA-AU 17 76802973 76802973 single base substitution A T intron_variant MELA-AU 17 76803449 76803449 single base substitution C T downstream_gene_variant MELA-AU 17 76803449 76803449 single base substitution C T exon_variant MELA-AU 17 76803449 76803449 single base substitution C T synonymous_variant S259S 777G>A MELA-AU 17 76803449 76803449 single base substitution C T synonymous_variant S559S 1677G>A MELA-AU 17 76804055 76804055 single base substitution G A downstream_gene_variant MELA-AU 17 76804055 76804055 single base substitution G A intron_variant MELA-AU 17 76805684 76805684 single base substitution G A downstream_gene_variant MELA-AU 17 76805684 76805684 single base substitution G A intron_variant MELA-AU 17 76806197 76806197 single base substitution G A downstream_gene_variant MELA-AU 17 76806197 76806197 single base substitution G A intron_variant MELA-AU 17 76806326 76806326 single base substitution T A downstream_gene_variant MELA-AU 17 76806326 76806326 single base substitution T A intron_variant MELA-AU 17 76806350 76806351 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 76806350 76806351 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 76807202 76807202 single base substitution G A downstream_gene_variant MELA-AU 17 76807202 76807202 single base substitution G A intron_variant MELA-AU 17 76807466 76807466 single base substitution T C downstream_gene_variant MELA-AU 17 76807466 76807466 single base substitution T C intron_variant MELA-AU 17 76807748 76807748 single base substitution G A downstream_gene_variant MELA-AU 17 76807748 76807748 single base substitution G A intron_variant MELA-AU 17 76808066 76808066 single base substitution C T downstream_gene_variant MELA-AU 17 76808066 76808066 single base substitution C T intron_variant MELA-AU 17 76808947 76808947 single base substitution C T downstream_gene_variant MELA-AU 17 76808947 76808947 single base substitution C T exon_variant MELA-AU 17 76808947 76808947 single base substitution C T missense_variant G168R 502G>A MELA-AU 17 76808947 76808947 single base substitution C T missense_variant G258R 772G>A MELA-AU 17 76808947 76808947 single base substitution C T missense_variant G468R 1402G>A MELA-AU 17 76809573 76809573 single base substitution G A intron_variant MELA-AU 17 76809902 76809903 multiple base substitution (>=2bp and <=200bp) GT AC downstream_gene_variant MELA-AU 17 76809902 76809903 multiple base substitution (>=2bp and <=200bp) GT AC exon_variant MELA-AU 17 76809902 76809903 multiple base substitution (>=2bp and <=200bp) GT AC missense_variant N106S 317AC>GT MELA-AU 17 76809902 76809903 multiple base substitution (>=2bp and <=200bp) GT AC missense_variant N196S 587AC>GT MELA-AU 17 76809902 76809903 multiple base substitution (>=2bp and <=200bp) GT AC missense_variant N406S 1217AC>GT MELA-AU 17 76810123 76810123 single base substitution G A downstream_gene_variant MELA-AU 17 76810123 76810123 single base substitution G A intron_variant MELA-AU 17 76810652 76810652 single base substitution G A downstream_gene_variant MELA-AU 17 76810652 76810652 single base substitution G A intron_variant MELA-AU 17 76811518 76811518 single base substitution G A downstream_gene_variant MELA-AU 17 76811518 76811518 single base substitution G A intron_variant MELA-AU 17 76812217 76812217 single base substitution G A downstream_gene_variant MELA-AU 17 76812217 76812217 single base substitution G A intron_variant MELA-AU 17 76814587 76814587 single base substitution G A downstream_gene_variant MELA-AU 17 76814587 76814587 single base substitution G A intron_variant MELA-AU 17 76815035 76815035 single base substitution G A downstream_gene_variant MELA-AU 17 76815035 76815035 single base substitution G A intron_variant MELA-AU 17 76815035 76815035 single base substitution G A upstream_gene_variant MELA-AU 17 76815114 76815114 single base substitution G A downstream_gene_variant MELA-AU 17 76815114 76815114 single base substitution G A exon_variant MELA-AU 17 76815114 76815114 single base substitution G A intron_variant MELA-AU 17 76815114 76815114 single base substitution G A upstream_gene_variant MELA-AU 17 76815374 76815374 single base substitution G A downstream_gene_variant MELA-AU 17 76815374 76815374 single base substitution G A intron_variant MELA-AU 17 76815374 76815374 single base substitution G A upstream_gene_variant MELA-AU 17 76816135 76816135 single base substitution G A downstream_gene_variant MELA-AU 17 76816135 76816135 single base substitution G A intron_variant MELA-AU 17 76816135 76816135 single base substitution G A upstream_gene_variant MELA-AU 17 76816361 76816361 single base substitution G A downstream_gene_variant MELA-AU 17 76816361 76816361 single base substitution G A intron_variant MELA-AU 17 76816361 76816361 single base substitution G A upstream_gene_variant MELA-AU 17 76816610 76816610 single base substitution A T downstream_gene_variant MELA-AU 17 76816610 76816610 single base substitution A T intron_variant MELA-AU 17 76816610 76816610 single base substitution A T upstream_gene_variant MELA-AU 17 76816757 76816757 single base substitution C G downstream_gene_variant MELA-AU 17 76816757 76816757 single base substitution C G intron_variant MELA-AU 17 76816757 76816757 single base substitution C G upstream_gene_variant MELA-AU 17 76816816 76816816 single base substitution G A downstream_gene_variant MELA-AU 17 76816816 76816816 single base substitution G A intron_variant MELA-AU 17 76816816 76816816 single base substitution G A upstream_gene_variant MELA-AU 17 76816897 76816897 single base substitution G A downstream_gene_variant MELA-AU 17 76816897 76816897 single base substitution G A intron_variant MELA-AU 17 76816897 76816897 single base substitution G A upstream_gene_variant MELA-AU 17 76817165 76817165 single base substitution G A downstream_gene_variant MELA-AU 17 76817165 76817165 single base substitution G A exon_variant MELA-AU 17 76817165 76817165 single base substitution G A intron_variant MELA-AU 17 76817165 76817165 single base substitution G A upstream_gene_variant MELA-AU 17 76817410 76817410 single base substitution G A downstream_gene_variant MELA-AU 17 76817410 76817410 single base substitution G A exon_variant MELA-AU 17 76817410 76817410 single base substitution G A intron_variant MELA-AU 17 76817410 76817410 single base substitution G A upstream_gene_variant MELA-AU 17 76817569 76817569 single base substitution G A downstream_gene_variant MELA-AU 17 76817569 76817569 single base substitution G A intron_variant MELA-AU 17 76817569 76817569 single base substitution G A upstream_gene_variant MELA-AU 17 76817576 76817576 single base substitution C A downstream_gene_variant MELA-AU 17 76817576 76817576 single base substitution C A intron_variant MELA-AU 17 76817576 76817576 single base substitution C A upstream_gene_variant MELA-AU 17 76817823 76817824 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 17 76817823 76817824 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 17 76817823 76817824 multiple base substitution (>=2bp and <=200bp) GT AA upstream_gene_variant MELA-AU 17 76817834 76817834 single base substitution C G downstream_gene_variant MELA-AU 17 76817834 76817834 single base substitution C G intron_variant MELA-AU 17 76817834 76817834 single base substitution C G upstream_gene_variant MELA-AU 17 76817872 76817872 single base substitution C A downstream_gene_variant MELA-AU 17 76817872 76817872 single base substitution C A intron_variant MELA-AU 17 76817872 76817872 single base substitution C A upstream_gene_variant MELA-AU 17 76818082 76818082 single base substitution C G 5_prime_UTR_variant MELA-AU 17 76818082 76818082 single base substitution C G downstream_gene_variant MELA-AU 17 76818082 76818082 single base substitution C G exon_variant MELA-AU 17 76818082 76818082 single base substitution C G missense_variant D22H 64G>C MELA-AU 17 76818082 76818082 single base substitution C G missense_variant D232H 694G>C MELA-AU 17 76818082 76818082 single base substitution C G upstream_gene_variant MELA-AU 17 76818117 76818117 single base substitution G A 5_prime_UTR_variant MELA-AU 17 76818117 76818117 single base substitution G A downstream_gene_variant MELA-AU 17 76818117 76818117 single base substitution G A intron_variant MELA-AU 17 76818117 76818117 single base substitution G A upstream_gene_variant MELA-AU 17 76818236 76818236 single base substitution C T 5_prime_UTR_variant MELA-AU 17 76818236 76818236 single base substitution C T downstream_gene_variant MELA-AU 17 76818236 76818236 single base substitution C T intron_variant MELA-AU 17 76818236 76818236 single base substitution C T upstream_gene_variant MELA-AU 17 76818271 76818271 single base substitution C G 5_prime_UTR_variant MELA-AU 17 76818271 76818271 single base substitution C G downstream_gene_variant MELA-AU 17 76818271 76818271 single base substitution C G intron_variant MELA-AU 17 76818271 76818271 single base substitution C G upstream_gene_variant MELA-AU 17 76818320 76818320 single base substitution C G 5_prime_UTR_variant MELA-AU 17 76818320 76818320 single base substitution C G downstream_gene_variant MELA-AU 17 76818320 76818320 single base substitution C G intron_variant MELA-AU 17 76818320 76818320 single base substitution C G upstream_gene_variant MELA-AU 17 76818501 76818501 single base substitution C T 5_prime_UTR_variant MELA-AU 17 76818501 76818501 single base substitution C T downstream_gene_variant MELA-AU 17 76818501 76818501 single base substitution C T intron_variant MELA-AU 17 76818501 76818501 single base substitution C T upstream_gene_variant MELA-AU 17 76819319 76819319 single base substitution C T 5_prime_UTR_variant MELA-AU 17 76819319 76819319 single base substitution C T downstream_gene_variant MELA-AU 17 76819319 76819319 single base substitution C T intron_variant MELA-AU 17 76819319 76819319 single base substitution C T upstream_gene_variant MELA-AU 17 76820724 76820724 single base substitution A G downstream_gene_variant MELA-AU 17 76820724 76820724 single base substitution A G intron_variant MELA-AU 17 76820724 76820724 single base substitution A G upstream_gene_variant MELA-AU 17 76820942 76820942 single base substitution G A downstream_gene_variant MELA-AU 17 76820942 76820942 single base substitution G A intron_variant MELA-AU 17 76820942 76820942 single base substitution G A upstream_gene_variant MELA-AU 17 76821289 76821289 single base substitution G A downstream_gene_variant MELA-AU 17 76821289 76821289 single base substitution G A intron_variant MELA-AU 17 76821289 76821289 single base substitution G A upstream_gene_variant MELA-AU 17 76821953 76821953 single base substitution G A downstream_gene_variant MELA-AU 17 76821953 76821953 single base substitution G A intron_variant MELA-AU 17 76821953 76821953 single base substitution G A upstream_gene_variant MELA-AU 17 76822266 76822267 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 76822266 76822267 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 76822266 76822267 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 76822863 76822863 single base substitution A G 3_prime_UTR_variant MELA-AU 17 76822863 76822863 single base substitution A G downstream_gene_variant MELA-AU 17 76822863 76822863 single base substitution A G intron_variant MELA-AU 17 76822863 76822863 single base substitution A G upstream_gene_variant MELA-AU 17 76823442 76823442 single base substitution G A downstream_gene_variant MELA-AU 17 76823442 76823442 single base substitution G A intron_variant MELA-AU 17 76823442 76823442 single base substitution G A upstream_gene_variant MELA-AU 17 76823580 76823580 single base substitution G A downstream_gene_variant MELA-AU 17 76823580 76823580 single base substitution G A intron_variant MELA-AU 17 76823580 76823580 single base substitution G A upstream_gene_variant MELA-AU 17 76824001 76824001 single base substitution A T downstream_gene_variant MELA-AU 17 76824001 76824001 single base substitution A T intron_variant MELA-AU 17 76824001 76824001 single base substitution A T upstream_gene_variant MELA-AU 17 76824403 76824403 single base substitution G A downstream_gene_variant MELA-AU 17 76824403 76824403 single base substitution G A intron_variant MELA-AU 17 76824486 76824486 single base substitution G A downstream_gene_variant MELA-AU 17 76824486 76824486 single base substitution G A intron_variant MELA-AU 17 76824808 76824808 single base substitution A G downstream_gene_variant MELA-AU 17 76824808 76824808 single base substitution A G intron_variant MELA-AU 17 76824908 76824908 single base substitution G A downstream_gene_variant MELA-AU 17 76824908 76824908 single base substitution G A intron_variant MELA-AU 17 76824966 76824966 single base substitution G T downstream_gene_variant MELA-AU 17 76824966 76824966 single base substitution G T intron_variant MELA-AU 17 76825468 76825468 single base substitution C T intron_variant MELA-AU 17 76825468 76825468 single base substitution C T upstream_gene_variant MELA-AU 17 76826443 76826443 single base substitution G A intron_variant MELA-AU 17 76826443 76826443 single base substitution G A upstream_gene_variant MELA-AU 17 76827287 76827287 single base substitution G A downstream_gene_variant MELA-AU 17 76827287 76827287 single base substitution G A intron_variant MELA-AU 17 76827287 76827287 single base substitution G A upstream_gene_variant MELA-AU 17 76827563 76827563 single base substitution C A downstream_gene_variant MELA-AU 17 76827563 76827563 single base substitution C A intron_variant MELA-AU 17 76827563 76827563 single base substitution C A upstream_gene_variant MELA-AU 17 76828567 76828567 single base substitution G A downstream_gene_variant MELA-AU 17 76828567 76828567 single base substitution G A intron_variant MELA-AU 17 76828567 76828567 single base substitution G A upstream_gene_variant MELA-AU 17 76828883 76828884 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 76828883 76828884 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 76828883 76828884 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 76828955 76828955 single base substitution G A downstream_gene_variant MELA-AU 17 76828955 76828955 single base substitution G A intron_variant MELA-AU 17 76828955 76828955 single base substitution G A upstream_gene_variant MELA-AU 17 76830379 76830379 single base substitution G A downstream_gene_variant MELA-AU 17 76830379 76830379 single base substitution G A intron_variant MELA-AU 17 76830505 76830505 single base substitution C T downstream_gene_variant MELA-AU 17 76830505 76830505 single base substitution C T intron_variant MELA-AU 17 76830975 76830975 single base substitution A G downstream_gene_variant MELA-AU 17 76830975 76830975 single base substitution A G intron_variant MELA-AU 17 76831521 76831522 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 76831521 76831522 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 17 76831521 76831522 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant FP105FS MELA-AU 17 76832153 76832154 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 76832153 76832154 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 17 76832153 76832154 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 76832253 76832253 single base substitution G A downstream_gene_variant MELA-AU 17 76832253 76832253 single base substitution G A exon_variant MELA-AU 17 76832253 76832253 single base substitution G A intron_variant MELA-AU 17 76832253 76832253 single base substitution G A missense_variant P65S 193C>T MELA-AU 17 76832492 76832492 single base substitution G A intron_variant MELA-AU 17 76832832 76832832 single base substitution A G intron_variant MELA-AU 17 76834016 76834016 single base substitution G A intron_variant MELA-AU 17 76834074 76834074 single base substitution G A intron_variant MELA-AU 17 76834078 76834078 single base substitution G A intron_variant MELA-AU 17 76834531 76834531 single base substitution T C intron_variant MELA-AU 17 76834976 76834977 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 17 76834976 76834977 multiple base substitution (>=2bp and <=200bp) GA AC upstream_gene_variant MELA-AU 17 76836352 76836352 single base substitution G A intron_variant MELA-AU 17 76836352 76836352 single base substitution G A upstream_gene_variant MELA-AU 17 76836587 76836587 single base substitution C T 5_prime_UTR_variant MELA-AU 17 76836587 76836587 single base substitution C T intron_variant MELA-AU 17 76836587 76836587 single base substitution C T upstream_gene_variant MELA-AU 17 76836893 76836893 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 76836893 76836893 single base substitution C T intron_variant MELA-AU 17 76836893 76836893 single base substitution C T upstream_gene_variant MELA-AU 17 76837024 76837024 single base substitution C T intron_variant MELA-AU 17 76837024 76837024 single base substitution C T upstream_gene_variant MELA-AU 17 76837046 76837046 single base substitution C T intron_variant MELA-AU 17 76837046 76837046 single base substitution C T upstream_gene_variant MELA-AU 17 76837457 76837457 single base substitution G A 5_prime_UTR_variant MELA-AU 17 76837457 76837457 single base substitution G A upstream_gene_variant MELA-AU 17 76838023 76838023 single base substitution G A upstream_gene_variant MELA-AU 17 76838364 76838364 single base substitution C T upstream_gene_variant MELA-AU 17 76838688 76838688 single base substitution A T upstream_gene_variant MELA-AU 17 76838991 76838991 single base substitution C T upstream_gene_variant MELA-AU 17 76839361 76839361 single base substitution G A upstream_gene_variant MELA-AU 17 76839391 76839391 single base substitution C T upstream_gene_variant MELA-AU 17 76839925 76839925 single base substitution C T upstream_gene_variant MELA-AU 17 76840731 76840731 single base substitution C T upstream_gene_variant MELA-AU 17 76841515 76841515 single base substitution C G upstream_gene_variant MELA-AU 17 76841554 76841554 single base substitution C T upstream_gene_variant MELA-AU 17 76841705 76841705 single base substitution A G upstream_gene_variant MELA-AU 17 76842184 76842184 single base substitution A G upstream_gene_variant MELA-AU 17 76842262 76842262 single base substitution C T upstream_gene_variant ORCA-IN 17 76787860 76787860 single base substitution G A downstream_gene_variant ORCA-IN 17 76787860 76787860 single base substitution G A intron_variant ORCA-IN 17 76789907 76789907 single base substitution C T downstream_gene_variant ORCA-IN 17 76789907 76789907 single base substitution C T intron_variant ORCA-IN 17 76797553 76797553 single base substitution G T downstream_gene_variant ORCA-IN 17 76797553 76797553 single base substitution G T intron_variant ORCA-IN 17 76797553 76797553 single base substitution G T upstream_gene_variant ORCA-IN 17 76823248 76823248 single base substitution G T downstream_gene_variant ORCA-IN 17 76823248 76823248 single base substitution G T intron_variant ORCA-IN 17 76823248 76823248 single base substitution G T missense_variant N256K 768C>A ORCA-IN 17 76823248 76823248 single base substitution G T upstream_gene_variant ORCA-IN 17 76825164 76825164 single base substitution C T intron_variant ORCA-IN 17 76825164 76825164 single base substitution C T upstream_gene_variant ORCA-IN 17 76837813 76837813 single base substitution C T upstream_gene_variant OV-AU 17 76784158 76784158 single base substitution T G downstream_gene_variant OV-AU 17 76784158 76784158 single base substitution T G intron_variant OV-AU 17 76787534 76787534 single base substitution A T downstream_gene_variant OV-AU 17 76787534 76787534 single base substitution A T intron_variant OV-AU 17 76797102 76797102 single base substitution A T downstream_gene_variant OV-AU 17 76797102 76797102 single base substitution A T intron_variant OV-AU 17 76797102 76797102 single base substitution A T upstream_gene_variant OV-AU 17 76798682 76798682 single base substitution A C intron_variant OV-AU 17 76798682 76798682 single base substitution A C upstream_gene_variant OV-AU 17 76799860 76799860 single base substitution T G downstream_gene_variant OV-AU 17 76799860 76799860 single base substitution T G exon_variant OV-AU 17 76799860 76799860 single base substitution T G intron_variant OV-AU 17 76799860 76799860 single base substitution T G missense_variant Q806P 2417A>C OV-AU 17 76799860 76799860 single base substitution T G upstream_gene_variant OV-AU 17 76800447 76800447 single base substitution G A downstream_gene_variant OV-AU 17 76800447 76800447 single base substitution G A intron_variant OV-AU 17 76800447 76800447 single base substitution G A upstream_gene_variant OV-AU 17 76801625 76801625 single base substitution C T downstream_gene_variant OV-AU 17 76801625 76801625 single base substitution C T intron_variant OV-AU 17 76803029 76803029 single base substitution C G downstream_gene_variant OV-AU 17 76803029 76803029 single base substitution C G intron_variant OV-AU 17 76803199 76803199 single base substitution T C downstream_gene_variant OV-AU 17 76803199 76803199 single base substitution T C exon_variant OV-AU 17 76803199 76803199 single base substitution T C missense_variant T343A 1027A>G OV-AU 17 76803199 76803199 single base substitution T C missense_variant T643A 1927A>G OV-AU 17 76822250 76822250 single base substitution T C downstream_gene_variant OV-AU 17 76822250 76822250 single base substitution T C intron_variant OV-AU 17 76822250 76822250 single base substitution T C upstream_gene_variant OV-AU 17 76822870 76822870 single base substitution C G 3_prime_UTR_variant OV-AU 17 76822870 76822870 single base substitution C G downstream_gene_variant OV-AU 17 76822870 76822870 single base substitution C G intron_variant OV-AU 17 76822870 76822870 single base substitution C G upstream_gene_variant OV-AU 17 76835737 76835737 single base substitution G A intron_variant OV-AU 17 76835737 76835737 single base substitution G A upstream_gene_variant OV-AU 17 76835738 76835738 single base substitution A G intron_variant OV-AU 17 76835738 76835738 single base substitution A G upstream_gene_variant OV-AU 17 76836206 76836206 single base substitution C T intron_variant OV-AU 17 76836206 76836206 single base substitution C T upstream_gene_variant OV-AU 17 76836473 76836473 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant OV-AU 17 76836473 76836473 single base substitution G A intron_variant OV-AU 17 76836473 76836473 single base substitution G A upstream_gene_variant OV-AU 17 76836816 76836816 single base substitution A C intron_variant OV-AU 17 76836816 76836816 single base substitution A C splice_donor_variant OV-AU 17 76836816 76836816 single base substitution A C upstream_gene_variant OV-AU 17 76839688 76839688 single base substitution G C upstream_gene_variant OV-AU 17 76841163 76841163 single base substitution C A upstream_gene_variant PACA-AU 17 76783215 76783215 single base substitution G A downstream_gene_variant PACA-AU 17 76798679 76798679 single base substitution C G intron_variant PACA-AU 17 76798679 76798679 single base substitution C G upstream_gene_variant PACA-AU 17 76805480 76805480 single base substitution G A downstream_gene_variant PACA-AU 17 76805480 76805480 single base substitution G A intron_variant PACA-AU 17 76832362 76832362 single base substitution A G exon_variant PACA-AU 17 76832362 76832362 single base substitution A G synonymous_variant L28L 84T>C PACA-AU 17 76838595 76838595 single base substitution G A upstream_gene_variant PACA-CA 17 76779804 76779804 single base substitution G A downstream_gene_variant PACA-CA 17 76781137 76781137 single base substitution G A downstream_gene_variant PACA-CA 17 76787067 76787067 single base substitution G A downstream_gene_variant PACA-CA 17 76787067 76787067 single base substitution G A intron_variant PACA-CA 17 76788242 76788242 single base substitution A C downstream_gene_variant PACA-CA 17 76788242 76788242 single base substitution A C intron_variant PACA-CA 17 76789727 76789727 single base substitution T C downstream_gene_variant PACA-CA 17 76789727 76789727 single base substitution T C intron_variant PACA-CA 17 76793102 76793102 single base substitution T C 3_prime_UTR_variant PACA-CA 17 76793102 76793102 single base substitution T C exon_variant PACA-CA 17 76793102 76793102 single base substitution T C intron_variant PACA-CA 17 76793339 76793339 single base substitution T C 3_prime_UTR_variant PACA-CA 17 76793339 76793339 single base substitution T C intron_variant PACA-CA 17 76793339 76793339 single base substitution T C upstream_gene_variant PACA-CA 17 76796599 76796599 single base substitution A G downstream_gene_variant PACA-CA 17 76796599 76796599 single base substitution A G intron_variant PACA-CA 17 76796599 76796599 single base substitution A G upstream_gene_variant PACA-CA 17 76803689 76803689 single base substitution C T downstream_gene_variant PACA-CA 17 76803689 76803689 single base substitution C T exon_variant PACA-CA 17 76803689 76803689 single base substitution C T synonymous_variant P179P 537G>A PACA-CA 17 76803689 76803689 single base substitution C T synonymous_variant P479P 1437G>A PACA-CA 17 76807654 76807654 single base substitution G A downstream_gene_variant PACA-CA 17 76807654 76807654 single base substitution G A intron_variant PACA-CA 17 76808466 76808466 single base substitution A C downstream_gene_variant PACA-CA 17 76808466 76808466 single base substitution A C intron_variant PACA-CA 17 76817115 76817115 single base substitution C T 5_prime_UTR_variant PACA-CA 17 76817115 76817115 single base substitution C T downstream_gene_variant PACA-CA 17 76817115 76817115 single base substitution C T exon_variant PACA-CA 17 76817115 76817115 single base substitution C T synonymous_variant S262S 786G>A PACA-CA 17 76817115 76817115 single base substitution C T synonymous_variant S52S 156G>A PACA-CA 17 76817115 76817115 single base substitution C T upstream_gene_variant PACA-CA 17 76824858 76824858 deletion of <=200bp G - downstream_gene_variant PACA-CA 17 76824858 76824858 deletion of <=200bp G - intron_variant PACA-CA 17 76825802 76825802 single base substitution G A intron_variant PACA-CA 17 76825802 76825802 single base substitution G A upstream_gene_variant PACA-CA 17 76828297 76828297 single base substitution C T downstream_gene_variant PACA-CA 17 76828297 76828297 single base substitution C T intron_variant PACA-CA 17 76828297 76828297 single base substitution C T upstream_gene_variant PACA-CA 17 76828977 76828977 single base substitution T A downstream_gene_variant PACA-CA 17 76828977 76828977 single base substitution T A intron_variant PACA-CA 17 76828977 76828977 single base substitution T A upstream_gene_variant PACA-CA 17 76838261 76838261 single base substitution C T upstream_gene_variant PACA-CA 17 76838692 76838692 single base substitution A G upstream_gene_variant PAEN-AU 17 76789586 76789586 single base substitution G A downstream_gene_variant PAEN-AU 17 76789586 76789586 single base substitution G A intron_variant PAEN-AU 17 76807881 76807881 single base substitution T G downstream_gene_variant PAEN-AU 17 76807881 76807881 single base substitution T G intron_variant PBCA-DE 17 76800004 76800004 single base substitution T G downstream_gene_variant PBCA-DE 17 76800004 76800004 single base substitution T G exon_variant PBCA-DE 17 76800004 76800004 single base substitution T G missense_variant H458P 1373A>C PBCA-DE 17 76800004 76800004 single base substitution T G missense_variant H758P 2273A>C PBCA-DE 17 76800004 76800004 single base substitution T G upstream_gene_variant PBCA-DE 17 76811192 76811192 single base substitution G T downstream_gene_variant PBCA-DE 17 76811192 76811192 single base substitution G T intron_variant PBCA-DE 17 76817445 76817445 single base substitution G C downstream_gene_variant PBCA-DE 17 76817445 76817445 single base substitution G C intron_variant PBCA-DE 17 76817445 76817445 single base substitution G C upstream_gene_variant PBCA-DE 17 76832144 76832144 single base substitution C T downstream_gene_variant PBCA-DE 17 76832144 76832144 single base substitution C T exon_variant PBCA-DE 17 76832144 76832144 single base substitution C T intron_variant PRAD-CA 17 76828202 76828202 single base substitution A C downstream_gene_variant PRAD-CA 17 76828202 76828202 single base substitution A C intron_variant PRAD-CA 17 76828202 76828202 single base substitution A C upstream_gene_variant PRAD-CA 17 76832423 76832423 single base substitution T C exon_variant PRAD-CA 17 76832423 76832423 single base substitution T C missense_variant K8R 23A>G PRAD-UK 17 76779043 76779051 deletion of <=200bp CTTGTTGCC - downstream_gene_variant PRAD-UK 17 76793333 76793333 single base substitution C T 3_prime_UTR_variant PRAD-UK 17 76793333 76793333 single base substitution C T intron_variant PRAD-UK 17 76793333 76793333 single base substitution C T upstream_gene_variant PRAD-UK 17 76805032 76805032 single base substitution T A downstream_gene_variant PRAD-UK 17 76805032 76805032 single base substitution T A intron_variant PRAD-UK 17 76809016 76809016 single base substitution G A downstream_gene_variant PRAD-UK 17 76809016 76809016 single base substitution G A exon_variant PRAD-UK 17 76809016 76809016 single base substitution G A missense_variant R145C 433C>T PRAD-UK 17 76809016 76809016 single base substitution G A missense_variant R235C 703C>T PRAD-UK 17 76809016 76809016 single base substitution G A missense_variant R445C 1333C>T PRAD-UK 17 76820816 76820816 single base substitution G C downstream_gene_variant PRAD-UK 17 76820816 76820816 single base substitution G C intron_variant PRAD-UK 17 76820816 76820816 single base substitution G C upstream_gene_variant PRAD-UK 17 76837045 76837045 single base substitution T A intron_variant PRAD-UK 17 76837045 76837045 single base substitution T A upstream_gene_variant PRAD-US 17 76803039 76803039 single base substitution A C downstream_gene_variant PRAD-US 17 76803039 76803039 single base substitution A C splice_donor_variant PRAD-US 17 76831511 76831511 single base substitution C T downstream_gene_variant PRAD-US 17 76831511 76831511 single base substitution C T exon_variant PRAD-US 17 76831511 76831511 single base substitution C T missense_variant R109Q 326G>A RECA-EU 17 76790091 76790091 single base substitution A G downstream_gene_variant RECA-EU 17 76790091 76790091 single base substitution A G intron_variant RECA-EU 17 76809795 76809795 single base substitution A T downstream_gene_variant RECA-EU 17 76809795 76809795 single base substitution A T intron_variant RECA-EU 17 76811620 76811620 single base substitution C T downstream_gene_variant RECA-EU 17 76811620 76811620 single base substitution C T intron_variant RECA-EU 17 76820544 76820544 single base substitution T A downstream_gene_variant RECA-EU 17 76820544 76820544 single base substitution T A intron_variant RECA-EU 17 76820544 76820544 single base substitution T A upstream_gene_variant RECA-EU 17 76825801 76825801 single base substitution C G intron_variant RECA-EU 17 76825801 76825801 single base substitution C G upstream_gene_variant RECA-EU 17 76826519 76826519 single base substitution C G intron_variant RECA-EU 17 76826519 76826519 single base substitution C G upstream_gene_variant SKCA-BR 17 76780561 76780561 single base substitution C A downstream_gene_variant SKCA-BR 17 76780569 76780569 single base substitution T A downstream_gene_variant SKCA-BR 17 76780724 76780725 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 17 76786174 76786174 single base substitution C T downstream_gene_variant SKCA-BR 17 76786174 76786174 single base substitution C T intron_variant SKCA-BR 17 76791820 76791820 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 76791820 76791820 single base substitution G A downstream_gene_variant SKCA-BR 17 76791820 76791820 single base substitution G A exon_variant SKCA-BR 17 76791820 76791820 single base substitution G A intron_variant SKCA-BR 17 76798317 76798317 single base substitution A C downstream_gene_variant SKCA-BR 17 76798317 76798317 single base substitution A C intron_variant SKCA-BR 17 76798317 76798317 single base substitution A C upstream_gene_variant SKCA-BR 17 76807712 76807712 single base substitution G A downstream_gene_variant SKCA-BR 17 76807712 76807712 single base substitution G A intron_variant SKCA-BR 17 76807944 76807944 single base substitution C T downstream_gene_variant SKCA-BR 17 76807944 76807944 single base substitution C T intron_variant SKCA-BR 17 76808906 76808906 single base substitution A C downstream_gene_variant SKCA-BR 17 76808906 76808906 single base substitution A C intron_variant SKCA-BR 17 76809352 76809352 insertion of <=200bp - AGAGAC intron_variant SKCA-BR 17 76817502 76817502 insertion of <=200bp - ATATATAT downstream_gene_variant SKCA-BR 17 76817502 76817502 insertion of <=200bp - ATATATAT intron_variant SKCA-BR 17 76817502 76817502 insertion of <=200bp - ATATATAT upstream_gene_variant SKCA-BR 17 76818474 76818474 single base substitution T C 5_prime_UTR_variant SKCA-BR 17 76818474 76818474 single base substitution T C downstream_gene_variant SKCA-BR 17 76818474 76818474 single base substitution T C intron_variant SKCA-BR 17 76818474 76818474 single base substitution T C upstream_gene_variant SKCA-BR 17 76820817 76820817 single base substitution G A downstream_gene_variant SKCA-BR 17 76820817 76820817 single base substitution G A intron_variant SKCA-BR 17 76820817 76820817 single base substitution G A upstream_gene_variant SKCA-BR 17 76825983 76825983 single base substitution A C intron_variant SKCA-BR 17 76825983 76825983 single base substitution A C upstream_gene_variant SKCA-BR 17 76826606 76826606 single base substitution G A intron_variant SKCA-BR 17 76826606 76826606 single base substitution G A upstream_gene_variant SKCA-BR 17 76827335 76827336 deletion of <=200bp AG - downstream_gene_variant SKCA-BR 17 76827335 76827336 deletion of <=200bp AG - intron_variant SKCA-BR 17 76827335 76827336 deletion of <=200bp AG - upstream_gene_variant SKCA-BR 17 76827926 76827926 single base substitution G A downstream_gene_variant SKCA-BR 17 76827926 76827926 single base substitution G A intron_variant SKCA-BR 17 76827926 76827926 single base substitution G A upstream_gene_variant SKCA-BR 17 76828024 76828025 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 17 76828024 76828025 deletion of <=200bp CA - intron_variant SKCA-BR 17 76828024 76828025 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 17 76829210 76829210 single base substitution A G downstream_gene_variant SKCA-BR 17 76829210 76829210 single base substitution A G intron_variant SKCA-BR 17 76829210 76829210 single base substitution A G upstream_gene_variant SKCA-BR 17 76830052 76830052 single base substitution G A downstream_gene_variant SKCA-BR 17 76830052 76830052 single base substitution G A intron_variant SKCA-BR 17 76831079 76831079 insertion of <=200bp - GTATA downstream_gene_variant SKCA-BR 17 76831079 76831079 insertion of <=200bp - GTATA intron_variant SKCA-BR 17 76832492 76832492 single base substitution G A intron_variant SKCA-BR 17 76837009 76837009 single base substitution G A intron_variant SKCA-BR 17 76837009 76837009 single base substitution G A upstream_gene_variant SKCA-BR 17 76838482 76838482 single base substitution C T upstream_gene_variant SKCA-BR 17 76838681 76838681 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 17 76841762 76841762 single base substitution G A upstream_gene_variant SKCM-US 17 76794553 76794553 single base substitution G A downstream_gene_variant SKCM-US 17 76794553 76794553 single base substitution G A exon_variant SKCM-US 17 76794553 76794553 single base substitution G A synonymous_variant F1107F 3321C>T SKCM-US 17 76794553 76794553 single base substitution G A synonymous_variant F52F 156C>T SKCM-US 17 76794553 76794553 single base substitution G A synonymous_variant F712F 2136C>T SKCM-US 17 76794553 76794553 single base substitution G A synonymous_variant F84F 252C>T SKCM-US 17 76794553 76794553 single base substitution G A upstream_gene_variant SKCM-US 17 76799510 76799510 single base substitution G A downstream_gene_variant SKCM-US 17 76799510 76799510 single base substitution G A exon_variant SKCM-US 17 76799510 76799510 single base substitution G A missense_variant L528F 1582C>T SKCM-US 17 76799510 76799510 single base substitution G A missense_variant L923F 2767C>T SKCM-US 17 76799510 76799510 single base substitution G A upstream_gene_variant SKCM-US 17 76799723 76799723 single base substitution G A downstream_gene_variant SKCM-US 17 76799723 76799723 single base substitution G A exon_variant SKCM-US 17 76799723 76799723 single base substitution G A intron_variant SKCM-US 17 76799723 76799723 single base substitution G A missense_variant P852S 2554C>T SKCM-US 17 76799723 76799723 single base substitution G A upstream_gene_variant SKCM-US 17 76799751 76799751 single base substitution C T downstream_gene_variant SKCM-US 17 76799751 76799751 single base substitution C T exon_variant SKCM-US 17 76799751 76799751 single base substitution C T intron_variant SKCM-US 17 76799751 76799751 single base substitution C T synonymous_variant G842G 2526G>A SKCM-US 17 76799751 76799751 single base substitution C T upstream_gene_variant SKCM-US 17 76799935 76799935 single base substitution G A downstream_gene_variant SKCM-US 17 76799935 76799935 single base substitution G A exon_variant SKCM-US 17 76799935 76799935 single base substitution G A intron_variant SKCM-US 17 76799935 76799935 single base substitution G A missense_variant S781L 2342C>T SKCM-US 17 76799935 76799935 single base substitution G A upstream_gene_variant SKCM-US 17 76800017 76800017 single base substitution G A downstream_gene_variant SKCM-US 17 76800017 76800017 single base substitution G A exon_variant SKCM-US 17 76800017 76800017 single base substitution G A missense_variant P454S 1360C>T SKCM-US 17 76800017 76800017 single base substitution G A missense_variant P754S 2260C>T SKCM-US 17 76800017 76800017 single base substitution G A upstream_gene_variant SKCM-US 17 76800037 76800037 single base substitution G A downstream_gene_variant SKCM-US 17 76800037 76800037 single base substitution G A exon_variant SKCM-US 17 76800037 76800037 single base substitution G A missense_variant S447L 1340C>T SKCM-US 17 76800037 76800037 single base substitution G A missense_variant S747L 2240C>T SKCM-US 17 76800037 76800037 single base substitution G A upstream_gene_variant SKCM-US 17 76802270 76802270 single base substitution G A downstream_gene_variant SKCM-US 17 76802270 76802270 single base substitution G A exon_variant SKCM-US 17 76802270 76802270 single base substitution G A synonymous_variant V428V 1284C>T SKCM-US 17 76802270 76802270 single base substitution G A synonymous_variant V728V 2184C>T SKCM-US 17 76802333 76802333 single base substitution G A downstream_gene_variant SKCM-US 17 76802333 76802333 single base substitution G A exon_variant SKCM-US 17 76802333 76802333 single base substitution G A synonymous_variant L407L 1221C>T SKCM-US 17 76802333 76802333 single base substitution G A synonymous_variant L707L 2121C>T SKCM-US 17 76803147 76803147 single base substitution G A downstream_gene_variant SKCM-US 17 76803147 76803147 single base substitution G A exon_variant SKCM-US 17 76803147 76803147 single base substitution G A missense_variant S360F 1079C>T SKCM-US 17 76803147 76803147 single base substitution G A missense_variant S660F 1979C>T SKCM-US 17 76803431 76803431 single base substitution C T downstream_gene_variant SKCM-US 17 76803431 76803431 single base substitution C T exon_variant SKCM-US 17 76803431 76803431 single base substitution C T synonymous_variant G265G 795G>A SKCM-US 17 76803431 76803431 single base substitution C T synonymous_variant G565G 1695G>A SKCM-US 17 76818060 76818060 single base substitution G A 5_prime_UTR_variant SKCM-US 17 76818060 76818060 single base substitution G A downstream_gene_variant SKCM-US 17 76818060 76818060 single base substitution G A exon_variant SKCM-US 17 76818060 76818060 single base substitution G A missense_variant T239I 716C>T SKCM-US 17 76818060 76818060 single base substitution G A missense_variant T29I 86C>T SKCM-US 17 76818060 76818060 single base substitution G A upstream_gene_variant SKCM-US 17 76823355 76823355 single base substitution G A 5_prime_UTR_variant SKCM-US 17 76823355 76823355 single base substitution G A downstream_gene_variant SKCM-US 17 76823355 76823355 single base substitution G A exon_variant SKCM-US 17 76823355 76823355 single base substitution G A stop_gained Q221* 661C>T SKCM-US 17 76823355 76823355 single base substitution G A upstream_gene_variant SKCM-US 17 76823413 76823413 single base substitution G A 5_prime_UTR_variant SKCM-US 17 76823413 76823413 single base substitution G A downstream_gene_variant SKCM-US 17 76823413 76823413 single base substitution G A exon_variant SKCM-US 17 76823413 76823413 single base substitution G A synonymous_variant F201F 603C>T SKCM-US 17 76823413 76823413 single base substitution G A upstream_gene_variant SKCM-US 17 76832252 76832252 single base substitution G A downstream_gene_variant SKCM-US 17 76832252 76832252 single base substitution G A exon_variant SKCM-US 17 76832252 76832252 single base substitution G A intron_variant SKCM-US 17 76832252 76832252 single base substitution G A missense_variant P65L 194C>T STAD-US 17 76795011 76795011 single base substitution G A downstream_gene_variant STAD-US 17 76795011 76795011 single base substitution G A exon_variant STAD-US 17 76795011 76795011 single base substitution G A synonymous_variant D1073D 3219C>T STAD-US 17 76795011 76795011 single base substitution G A synonymous_variant D18D 54C>T STAD-US 17 76795011 76795011 single base substitution G A synonymous_variant D50D 150C>T STAD-US 17 76795011 76795011 single base substitution G A synonymous_variant D678D 2034C>T STAD-US 17 76795011 76795011 single base substitution G A upstream_gene_variant STAD-US 17 76795750 76795750 single base substitution T C downstream_gene_variant STAD-US 17 76795750 76795750 single base substitution T C splice_region_variant STAD-US 17 76795750 76795750 single base substitution T C upstream_gene_variant STAD-US 17 76795809 76795809 deletion of <=200bp C - downstream_gene_variant STAD-US 17 76795809 76795809 deletion of <=200bp C - exon_variant STAD-US 17 76795809 76795809 deletion of <=200bp C - frameshift_variant E1022 STAD-US 17 76795809 76795809 deletion of <=200bp C - frameshift_variant E627 STAD-US 17 76795809 76795809 deletion of <=200bp C - upstream_gene_variant STAD-US 17 76798447 76798447 single base substitution C T downstream_gene_variant STAD-US 17 76798447 76798447 single base substitution C T exon_variant STAD-US 17 76798447 76798447 single base substitution C T missense_variant C599Y 1796G>A STAD-US 17 76798447 76798447 single base substitution C T missense_variant C994Y 2981G>A STAD-US 17 76798447 76798447 single base substitution C T upstream_gene_variant STAD-US 17 76799589 76799589 single base substitution C T downstream_gene_variant STAD-US 17 76799589 76799589 single base substitution C T exon_variant STAD-US 17 76799589 76799589 single base substitution C T synonymous_variant V501V 1503G>A STAD-US 17 76799589 76799589 single base substitution C T synonymous_variant V896V 2688G>A STAD-US 17 76799589 76799589 single base substitution C T upstream_gene_variant STAD-US 17 76799940 76799942 deletion of <=200bp GGA - downstream_gene_variant STAD-US 17 76799940 76799942 deletion of <=200bp GGA - exon_variant STAD-US 17 76799940 76799942 deletion of <=200bp GGA - inframe_deletion S779 STAD-US 17 76799940 76799942 deletion of <=200bp GGA - intron_variant STAD-US 17 76799940 76799942 deletion of <=200bp GGA - upstream_gene_variant STAD-US 17 76800028 76800028 single base substitution C T downstream_gene_variant STAD-US 17 76800028 76800028 single base substitution C T exon_variant STAD-US 17 76800028 76800028 single base substitution C T missense_variant R450H 1349G>A STAD-US 17 76800028 76800028 single base substitution C T missense_variant R750H 2249G>A STAD-US 17 76800028 76800028 single base substitution C T upstream_gene_variant STAD-US 17 76803062 76803062 deletion of <=200bp T - downstream_gene_variant STAD-US 17 76803062 76803062 deletion of <=200bp T - exon_variant STAD-US 17 76803062 76803062 deletion of <=200bp T - frameshift_variant K388 STAD-US 17 76803062 76803062 deletion of <=200bp T - frameshift_variant K688 STAD-US 17 76803161 76803161 single base substitution T C downstream_gene_variant STAD-US 17 76803161 76803161 single base substitution T C exon_variant STAD-US 17 76803161 76803161 single base substitution T C synonymous_variant P355P 1065A>G STAD-US 17 76803161 76803161 single base substitution T C synonymous_variant P655P 1965A>G STAD-US 17 76803391 76803391 single base substitution G T downstream_gene_variant STAD-US 17 76803391 76803391 single base substitution G T exon_variant STAD-US 17 76803391 76803391 single base substitution G T missense_variant L279I 835C>A STAD-US 17 76803391 76803391 single base substitution G T missense_variant L579I 1735C>A STAD-US 17 76817075 76817075 single base substitution G A downstream_gene_variant STAD-US 17 76817075 76817075 single base substitution G A missense_variant R276W 826C>T STAD-US 17 76817075 76817075 single base substitution G A missense_variant R66W 196C>T STAD-US 17 76817075 76817075 single base substitution G A splice_region_variant STAD-US 17 76817075 76817075 single base substitution G A upstream_gene_variant STAD-US 17 76817087 76817087 single base substitution C T 5_prime_UTR_variant STAD-US 17 76817087 76817087 single base substitution C T downstream_gene_variant STAD-US 17 76817087 76817087 single base substitution C T exon_variant STAD-US 17 76817087 76817087 single base substitution C T missense_variant A272T 814G>A STAD-US 17 76817087 76817087 single base substitution C T missense_variant A62T 184G>A STAD-US 17 76817087 76817087 single base substitution C T upstream_gene_variant STAD-US 17 76825015 76825015 single base substitution C T 5_prime_UTR_variant STAD-US 17 76825015 76825015 single base substitution C T downstream_gene_variant STAD-US 17 76825015 76825015 single base substitution C T exon_variant STAD-US 17 76825015 76825015 single base substitution C T missense_variant A184T 550G>A STAD-US 17 76825020 76825020 single base substitution C T 5_prime_UTR_variant STAD-US 17 76825020 76825020 single base substitution C T downstream_gene_variant STAD-US 17 76825020 76825020 single base substitution C T exon_variant STAD-US 17 76825020 76825020 single base substitution C T missense_variant G182D 545G>A STAD-US 17 76831482 76831482 single base substitution G A 3_prime_UTR_variant STAD-US 17 76831482 76831482 single base substitution G A downstream_gene_variant STAD-US 17 76831482 76831482 single base substitution G A exon_variant STAD-US 17 76831482 76831482 single base substitution G A missense_variant R119C 355C>T STAD-US 17 76832231 76832231 single base substitution C T downstream_gene_variant STAD-US 17 76832231 76832231 single base substitution C T exon_variant STAD-US 17 76832231 76832231 single base substitution C T intron_variant STAD-US 17 76832231 76832231 single base substitution C T missense_variant R72H 215G>A STAD-US 17 76832327 76832327 single base substitution A G exon_variant STAD-US 17 76832327 76832327 single base substitution A G intron_variant STAD-US 17 76832327 76832327 single base substitution A G missense_variant I40T 119T>C THCA-SA 17 76817090 76817090 single base substitution C T 5_prime_UTR_variant THCA-SA 17 76817090 76817090 single base substitution C T downstream_gene_variant THCA-SA 17 76817090 76817090 single base substitution C T exon_variant THCA-SA 17 76817090 76817090 single base substitution C T missense_variant V271I 811G>A THCA-SA 17 76817090 76817090 single base substitution C T missense_variant V61I 181G>A THCA-SA 17 76817090 76817090 single base substitution C T upstream_gene_variant THCA-US 17 76802345 76802345 single base substitution G A downstream_gene_variant THCA-US 17 76802345 76802345 single base substitution G A exon_variant THCA-US 17 76802345 76802345 single base substitution G A synonymous_variant T403T 1209C>T THCA-US 17 76802345 76802345 single base substitution G A synonymous_variant T703T 2109C>T UCEC-US 17 76794532 76794532 single base substitution T C downstream_gene_variant UCEC-US 17 76794532 76794532 single base substitution T C exon_variant UCEC-US 17 76794532 76794532 single base substitution T C synonymous_variant A1114A 3342A>G UCEC-US 17 76794532 76794532 single base substitution T C synonymous_variant A59A 177A>G UCEC-US 17 76794532 76794532 single base substitution T C synonymous_variant A719A 2157A>G UCEC-US 17 76794532 76794532 single base substitution T C synonymous_variant A91A 273A>G UCEC-US 17 76794532 76794532 single base substitution T C upstream_gene_variant UCEC-US 17 76794559 76794559 single base substitution C A downstream_gene_variant UCEC-US 17 76794559 76794559 single base substitution C A exon_variant UCEC-US 17 76794559 76794559 single base substitution C A synonymous_variant R1105R 3315G>T UCEC-US 17 76794559 76794559 single base substitution C A synonymous_variant R50R 150G>T UCEC-US 17 76794559 76794559 single base substitution C A synonymous_variant R710R 2130G>T UCEC-US 17 76794559 76794559 single base substitution C A synonymous_variant R82R 246G>T UCEC-US 17 76794559 76794559 single base substitution C A upstream_gene_variant UCEC-US 17 76794618 76794618 single base substitution T G downstream_gene_variant UCEC-US 17 76794618 76794618 single base substitution T G exon_variant UCEC-US 17 76794618 76794618 single base substitution T G missense_variant K1086Q 3256A>C UCEC-US 17 76794618 76794618 single base substitution T G missense_variant K31Q 91A>C UCEC-US 17 76794618 76794618 single base substitution T G missense_variant K63Q 187A>C UCEC-US 17 76794618 76794618 single base substitution T G missense_variant K691Q 2071A>C UCEC-US 17 76794618 76794618 single base substitution T G upstream_gene_variant UCEC-US 17 76795040 76795040 single base substitution G A downstream_gene_variant UCEC-US 17 76795040 76795040 single base substitution G A exon_variant UCEC-US 17 76795040 76795040 single base substitution G A missense_variant R1064W 3190C>T UCEC-US 17 76795040 76795040 single base substitution G A missense_variant R41W 121C>T UCEC-US 17 76795040 76795040 single base substitution G A missense_variant R669W 2005C>T UCEC-US 17 76795040 76795040 single base substitution G A missense_variant R9W 25C>T UCEC-US 17 76795040 76795040 single base substitution G A upstream_gene_variant UCEC-US 17 76795780 76795780 single base substitution T G downstream_gene_variant UCEC-US 17 76795780 76795780 single base substitution T G exon_variant UCEC-US 17 76795780 76795780 single base substitution T G missense_variant K1031N 3093A>C UCEC-US 17 76795780 76795780 single base substitution T G missense_variant K636N 1908A>C UCEC-US 17 76795780 76795780 single base substitution T G missense_variant K8N 24A>C UCEC-US 17 76795780 76795780 single base substitution T G upstream_gene_variant UCEC-US 17 76798404 76798404 single base substitution A G downstream_gene_variant UCEC-US 17 76798404 76798404 single base substitution A G splice_donor_variant UCEC-US 17 76798404 76798404 single base substitution A G upstream_gene_variant UCEC-US 17 76798457 76798457 single base substitution A G downstream_gene_variant UCEC-US 17 76798457 76798457 single base substitution A G exon_variant UCEC-US 17 76798457 76798457 single base substitution A G missense_variant S596P 1786T>C UCEC-US 17 76798457 76798457 single base substitution A G missense_variant S991P 2971T>C UCEC-US 17 76798457 76798457 single base substitution A G upstream_gene_variant UCEC-US 17 76798549 76798554 deletion of <=200bp TTTTTC - disruptive_inframe_deletion KKK563K UCEC-US 17 76798549 76798554 deletion of <=200bp TTTTTC - disruptive_inframe_deletion KKK958K UCEC-US 17 76798549 76798554 deletion of <=200bp TTTTTC - exon_variant UCEC-US 17 76798549 76798554 deletion of <=200bp TTTTTC - upstream_gene_variant UCEC-US 17 76798596 76798596 single base substitution A G exon_variant UCEC-US 17 76798596 76798596 single base substitution A G synonymous_variant G549G 1647T>C UCEC-US 17 76798596 76798596 single base substitution A G synonymous_variant G944G 2832T>C UCEC-US 17 76798596 76798596 single base substitution A G upstream_gene_variant UCEC-US 17 76802270 76802270 single base substitution G A downstream_gene_variant UCEC-US 17 76802270 76802270 single base substitution G A exon_variant UCEC-US 17 76802270 76802270 single base substitution G A synonymous_variant V428V 1284C>T UCEC-US 17 76802270 76802270 single base substitution G A synonymous_variant V728V 2184C>T UCEC-US 17 76802345 76802345 single base substitution G A downstream_gene_variant UCEC-US 17 76802345 76802345 single base substitution G A exon_variant UCEC-US 17 76802345 76802345 single base substitution G A synonymous_variant T403T 1209C>T UCEC-US 17 76802345 76802345 single base substitution G A synonymous_variant T703T 2109C>T UCEC-US 17 76803224 76803224 single base substitution C T downstream_gene_variant UCEC-US 17 76803224 76803224 single base substitution C T exon_variant UCEC-US 17 76803224 76803224 single base substitution C T synonymous_variant A334A 1002G>A UCEC-US 17 76803224 76803224 single base substitution C T synonymous_variant A634A 1902G>A UCEC-US 17 76803466 76803466 single base substitution G A downstream_gene_variant UCEC-US 17 76803466 76803466 single base substitution G A exon_variant UCEC-US 17 76803466 76803466 single base substitution G A missense_variant P254S 760C>T UCEC-US 17 76803466 76803466 single base substitution G A missense_variant P554S 1660C>T UCEC-US 17 76809059 76809059 single base substitution G A exon_variant UCEC-US 17 76809059 76809059 single base substitution G A synonymous_variant P130P 390C>T UCEC-US 17 76809059 76809059 single base substitution G A synonymous_variant P220P 660C>T UCEC-US 17 76809059 76809059 single base substitution G A synonymous_variant P430P 1290C>T UCEC-US 17 76809894 76809894 single base substitution A G downstream_gene_variant UCEC-US 17 76809894 76809894 single base substitution A G exon_variant UCEC-US 17 76809894 76809894 single base substitution A G missense_variant V109A 326T>C UCEC-US 17 76809894 76809894 single base substitution A G missense_variant V199A 596T>C UCEC-US 17 76809894 76809894 single base substitution A G missense_variant V409A 1226T>C UCEC-US 17 76809946 76809946 single base substitution C A downstream_gene_variant UCEC-US 17 76809946 76809946 single base substitution C A exon_variant UCEC-US 17 76809946 76809946 single base substitution C A stop_gained G182* 544G>T UCEC-US 17 76809946 76809946 single base substitution C A stop_gained G392* 1174G>T UCEC-US 17 76809946 76809946 single base substitution C A stop_gained G92* 274G>T UCEC-US 17 76817087 76817087 single base substitution C T 5_prime_UTR_variant UCEC-US 17 76817087 76817087 single base substitution C T downstream_gene_variant UCEC-US 17 76817087 76817087 single base substitution C T exon_variant UCEC-US 17 76817087 76817087 single base substitution C T missense_variant A272T 814G>A UCEC-US 17 76817087 76817087 single base substitution C T missense_variant A62T 184G>A UCEC-US 17 76817087 76817087 single base substitution C T upstream_gene_variant UCEC-US 17 76817116 76817116 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 17 76817116 76817116 single base substitution G A downstream_gene_variant UCEC-US 17 76817116 76817116 single base substitution G A exon_variant UCEC-US 17 76817116 76817116 single base substitution G A missense_variant S262L 785C>T UCEC-US 17 76817116 76817116 single base substitution G A missense_variant S52L 155C>T UCEC-US 17 76817116 76817116 single base substitution G A upstream_gene_variant UCEC-US 17 76823323 76823323 single base substitution G A downstream_gene_variant UCEC-US 17 76823323 76823323 single base substitution G A splice_region_variant UCEC-US 17 76823323 76823323 single base substitution G A synonymous_variant C231C 693C>T UCEC-US 17 76823323 76823323 single base substitution G A upstream_gene_variant UCEC-US 17 76823364 76823364 single base substitution C T 5_prime_UTR_variant UCEC-US 17 76823364 76823364 single base substitution C T downstream_gene_variant UCEC-US 17 76823364 76823364 single base substitution C T exon_variant UCEC-US 17 76823364 76823364 single base substitution C T missense_variant D218N 652G>A UCEC-US 17 76823364 76823364 single base substitution C T upstream_gene_variant UCEC-US 17 76825008 76825008 single base substitution T G 5_prime_UTR_variant UCEC-US 17 76825008 76825008 single base substitution T G downstream_gene_variant UCEC-US 17 76825008 76825008 single base substitution T G exon_variant UCEC-US 17 76825008 76825008 single base substitution T G missense_variant K186T 557A>C UCEC-US 17 76825010 76825010 single base substitution G T 5_prime_UTR_variant UCEC-US 17 76825010 76825010 single base substitution G T downstream_gene_variant UCEC-US 17 76825010 76825010 single base substitution G T exon_variant UCEC-US 17 76825010 76825010 single base substitution G T synonymous_variant I185I 555C>A UCEC-US 17 76832320 76832320 single base substitution G A exon_variant UCEC-US 17 76832320 76832320 single base substitution G A intron_variant UCEC-US 17 76832320 76832320 single base substitution G A synonymous_variant F42F 126C>T UCEC-US 17 76832399 76832399 single base substitution T G exon_variant UCEC-US 17 76832399 76832399 single base substitution T G missense_variant K16T 47A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-66-2766-01 COSM707797 c.827G>T p.R276L Substitution - Missense 17:78820992-78820992 - sysucc-1028T COSM5468961 c.2786T>C p.L929P Substitution - Missense 17:78803409-78803409 - B105-0-Tumor COSM1756955 c.1945G>A p.G649S Substitution - Missense 17:78807099-78807099 - TCGA-BS-A0UJ-01 COSM985223 c.2971T>C p.S991P Substitution - Missense 17:78802375-78802375 - LC_C27 COSM1189587 c.2401G>A p.A801T Substitution - Missense 17:78803794-78803794 - PTC-7C COSM5446503 c.2862_2867delGAAAAA p.K959_K960delKK Deletion - In frame 17:78802479-78802484 - TCGA-18-3409-01 COSM707793 c.315C>T p.F105F Substitution - coding silent 17:78835440-78835440 - WSU-HN6 COSM4602038 c.179A>T p.Y60F Substitution - Missense 17:78836185-78836185 - TCGA-CA-6717-01 COSM3691886 c.837G>A p.A279A Substitution - coding silent 17:78820004-78820004 - TCGA-DD-A116-01 COSM4912278 c.2181C>T p.P727P Substitution - coding silent 17:78806191-78806191 - pfg008T COSM4757760 c.2416C>G p.Q806E Substitution - Missense 17:78803779-78803779 - pfg068T COSM2746571 c.2136delC p.S713fs*10 Deletion - Frameshift 17:78806236-78806236 - S00935 COSM5663067 c.2245A>T p.S749C Substitution - Missense 17:78803950-78803950 - 394 COSM985224 c.2874_2879delGAAAAA p.K959_K960delKK Deletion - In frame 17:78802467-78802472 - TCGA-D9-A6EC-06 COSM985231 c.2184C>T p.V728V Substitution - coding silent 17:78806188-78806188 - 114 COSM5013248 c.2867A>C p.K956T Substitution - Missense 17:78802479-78802479 - TCGA-D3-A2JF-06 COSM3523103 c.2240C>T p.S747L Substitution - Missense 17:78803955-78803955 - TCGA-HU-A4H4-01 COSM4070206 c.2688G>A p.V896V Substitution - coding silent 17:78803507-78803507 - PTC-7C COSM3766200 c.2417A>G p.Q806R Substitution - Missense 17:78803778-78803778 - CSCC-31-T COSM4539841 c.2744G>A p.R915Q Substitution - Missense 17:78803451-78803451 - CSCC-54-T COSM4541370 c.2994G>A p.A998A Substitution - coding silent 17:78802352-78802352 - ICC009T COSM5823460 c.1108G>C p.V370L Substitution - Missense 17:78814468-78814468 - DLD1 COSM2746551 c.2291G>A p.S764N Substitution - Missense 17:78803904-78803904 - TCGA-ER-A194-01 COSM3523123 c.194C>T p.P65L Substitution - Missense 17:78836170-78836170 - CAL33 COSM4272781 c.2273A>C p.H758P Substitution - Missense 17:78803922-78803922 - CRC-02T COSM5454619 c.2705G>T p.G902V Substitution - Missense 17:78803490-78803490 - LUAD-B01811 COSM334076 c.708G>T p.Q236H Substitution - Missense 17:78821986-78821986 - PTC-7C COSM4130734 c.2186T>G p.V729G Substitution - Missense 17:78806186-78806186 - C058 COSM5525798 c.1748C>T p.P583L Substitution - Missense 17:78807296-78807296 - TCGA-B7-5816-01 COSM4070215 c.826C>T p.R276W Substitution - Missense 17:78820993-78820993 - MO_1012 COSM5569072 c.321G>A p.T107T Substitution - coding silent 17:78835434-78835434 - TCGA-EE-A3JI-06 COSM3523107 c.1695G>A p.G565G Substitution - coding silent 17:78807349-78807349 - App2312 COSM4168933 c.3313C>T p.R1105W Substitution - Missense 17:78798479-78798479 - HCC022T COSM5470776 c.1058C>T p.P353L Substitution - Missense 17:78814518-78814518 - TCGA-EE-A2M5-06 COSM3523099 c.2526G>A p.G842G Substitution - coding silent 17:78803669-78803669 - LS411 COSM4646565 c.1675T>C p.S559P Substitution - Missense 17:78807369-78807369 - TCGA-B8-5163-01 COSM473466 c.2027A>T p.E676V Substitution - Missense 17:78807017-78807017 - TCGA-AB-2827-03 COSM96267 c.534C>T p.F178F Substitution - coding silent 17:78828949-78828949 - TCGA-G9-6333-01 COSM3783115 c.2085+2T>G p.? Unknown 17:78806957-78806957 - YUMUL COSM5387525 c.689+1G>A p.? Unknown 17:78827244-78827244 - ESCC_68 COSM5633900 c.2724C>G p.H908Q Substitution - Missense 17:78803471-78803471 - TCGA-ER-A19N-06 COSM3523101 c.2260C>T p.P754S Substitution - Missense 17:78803935-78803935 - LUAD-RT-S01818 COSM383918 c.1030G>C p.G344R Substitution - Missense 17:78814546-78814546 - CSCC-49-T COSM4486368 c.3041C>T p.P1014L Substitution - Missense 17:78799750-78799750 - TCGA-AN-A0AR-01 COSM437676 c.3042T>A p.P1014P Substitution - coding silent 17:78799749-78799749 - HT115 COSM294938 c.941G>A p.R314H Substitution - Missense 17:78818749-78818749 - TCGA-D1-A17Q-01 COSM985275 c.47A>C p.K16T Substitution - Missense 17:78836317-78836317 - S02403 COSM5700400 c.777G>C p.K259N Substitution - Missense 17:78821042-78821042 - S00944 COSM316414 c.2340C>G p.I780M Substitution - Missense 17:78803855-78803855 - TCGA-DU-7304-01 COSM3970408 c.107T>C p.L36P Substitution - Missense 17:78836257-78836257 - TCGA-BS-A0UV-01 COSM985263 c.652G>A p.D218N Substitution - Missense 17:78827282-78827282 - ESCC_127 COSM5641489 c.1890C>G p.P630P Substitution - coding silent 17:78807154-78807154 - COLO205 COSM2746672 c.259G>A p.E87K Substitution - Missense 17:78835496-78835496 - 587256 COSM1232059 c.2714C>T p.T905M Substitution - Missense 17:78803481-78803481 - TCGA-AG-A02N-01 COSM1646872 c.3201C>T p.T1067T Substitution - coding silent 17:78798947-78798947 - CHC322T COSM3736177 c.2482C>T p.R828C Substitution - Missense 17:78803713-78803713 - 2318492 COSM4777057 c.1450G>A p.E484K Substitution - Missense 17:78807594-78807594 - TCGA-AX-A0J0-01 COSM985266 c.557A>C p.K186T Substitution - Missense 17:78828926-78828926 - TCGA-B5-A0K9-01 COSM985221 c.3022+2T>C p.? Unknown 17:78802322-78802322 - TCGA-BP-5198-01 COSM473470 c.430C>G p.P144A Substitution - Missense 17:78835325-78835325 - PD9581a COSM5769710 c.1539C>T p.S513S Substitution - coding silent 17:78807505-78807505 - TCGA-AM-5820-01 COSM3755951 c.811G>A p.V271I Substitution - Missense 17:78821008-78821008 - S02120 COSM5673565 c.1654G>T p.G552W Substitution - Missense 17:78807390-78807390 - PCSI_0465_Pa_P_526 COSM2746645 c.786G>A p.S262S Substitution - coding silent 17:78821033-78821033 - TCGA-AP-A059-01 COSM985210 c.3315G>T p.R1105R Substitution - coding silent 17:78798477-78798477 - B70 COSM1750360 c.2836C>T p.P946S Substitution - Missense 17:78802510-78802510 - CSCC-62-T COSM4447435 c.690-3C>T p.? Unknown 17:78822007-78822007 - Au9 COSM5607666 c.1829C>T p.S610F Substitution - Missense 17:78807215-78807215 - TCGA-AF-3914-01 COSM5065627 c.2469G>T p.L823L Substitution - coding silent 17:78803726-78803726 - TCGA-D5-5537-01 COSM985224 c.2874_2879delGAAAAA p.K959_K960delKK Deletion - In frame 17:78802467-78802472 - ESO-083 COSM1270087 c.1356C>T p.H452H Substitution - coding silent 17:78812911-78812911 - TCGA-AK-3447-01 COSM1494097 c.2655C>T p.V885V Substitution - coding silent 17:78803540-78803540 - TCGA-E2-A15R-01 COSM3820818 c.2964C>A p.V988V Substitution - coding silent 17:78802382-78802382 - 112509 COSM95474 c.278G>C p.C93S Substitution - Missense 17:78835477-78835477 - 35M COSM5583012 c.127G>A p.E43K Substitution - Missense 17:78836237-78836237 - SWE-1B COSM1179355 c.3257A>C p.K1086T Substitution - Missense 17:78798535-78798535 - Pat_41_B COSM5853649 c.2488C>T p.P830S Substitution - Missense 17:78803707-78803707 - RMS2029 COSM5880488 c.2185G>A p.V729I Substitution - Missense 17:78806187-78806187 - LC_C27 COSM1189585 c.3202G>A p.V1068M Substitution - Missense 17:78798946-78798946 - TCGA-B0-5098-01 COSM1494099 c.3350C>T p.A1117V Substitution - Missense 17:78798442-78798442 - 1N37-VS-1T37 COSM4975029 c.1702A>C p.R568R Substitution - coding silent 17:78807342-78807342 - S00944 COSM316412 c.2342C>T p.S781L Substitution - Missense 17:78803853-78803853 - ME009T COSM223912 c.1394C>T p.P465L Substitution - Missense 17:78812873-78812873 - TCGA-AA-3695-01 COSM293436 c.216C>A p.R72R Substitution - coding silent 17:78836148-78836148 - T3498 COSM4739806 c.1776C>T p.N592N Substitution - coding silent 17:78807268-78807268 - AOCS-144-1-3 COSM4139915 c.1927A>G p.T643A Substitution - Missense 17:78807117-78807117 - PD2198a COSM30541 c.495C>T p.C165C Substitution - coding silent CN-AML-08-T COSM5425525 c.3240+9T>C p.? Unknown 17:78798899-78798899 - SW948 COSM2746659 c.659T>C p.M220T Substitution - Missense 17:78827275-78827275 - TCGA-A3-3349-01 COSM4857021 c.3168T>G p.A1056A Substitution - coding silent 17:78798980-78798980 - OV207 COSM253118 c.1731_1733delTGT p.V578delV Deletion - In frame 17:78807311-78807313 - TCGA-AX-A0J1-01 COSM985242 c.1290C>T p.P430P Substitution - coding silent 17:78812977-78812977 - TCGA-24-1849-01 COSM1324816 c.809A>G p.D270G Substitution - Missense 17:78821010-78821010 - TCGA-BH-A0B9-01 COSM5215048 c.2416_2417insC p.Q806fs*5 Insertion - Frameshift 17:78803778-78803779 - CSCC-44-T COSM4508975 c.792C>T p.T264T Substitution - coding silent 17:78821027-78821027 - SWE-41 COSM1179963 c.262C>T p.H88Y Substitution - Missense 17:78835493-78835493 - TCGA-A8-A07R-01 COSM3820822 c.2621A>G p.Y874C Substitution - Missense 17:78803574-78803574 - TCGA-18-3406-01 COSM707795 c.400A>G p.N134D Substitution - Missense 17:78835355-78835355 - U87 COSM985224 c.2874_2879delGAAAAA p.K959_K960delKK Deletion - In frame 17:78802467-78802472 - PT49 COSM5936370 c.1334G>A p.R445H Substitution - Missense 17:78812933-78812933 - TCGA-AP-A051-01 COSM985235 c.1902G>A p.A634A Substitution - coding silent 17:78807142-78807142 - CSCC-45-T COSM4569340 c.1680T>A p.N560K Substitution - Missense 17:78807364-78807364 - TCGA-AP-A059-01 COSM985245 c.1226T>C p.V409A Substitution - Missense 17:78813812-78813812 - Au2 COSM5600833 c.89C>T p.S30F Substitution - Missense 17:78836275-78836275 - HCT15 COSM2746551 c.2291G>A p.S764N Substitution - Missense 17:78803904-78803904 - C467 COSM4442051 c.3310C>T p.R1104* Substitution - Nonsense 17:78798482-78798482 - PTC-7C COSM3736177 c.2482C>T p.R828C Substitution - Missense 17:78803713-78803713 - sysucc-1370T COSM5470776 c.1058C>T p.P353L Substitution - Missense 17:78814518-78814518 - 0052_CRUK_PC_0052_T1_DNA COSM5421857 c.1333C>T p.R445C Substitution - Missense 17:78812934-78812934 - T3118 COSM2746591 c.1800C>T p.D600D Substitution - coding silent 17:78807244-78807244 - TCGA-FI-A2EX-01 COSM985224 c.2874_2879delGAAAAA p.K959_K960delKK Deletion - In frame 17:78802467-78802472 - TCGA-BS-A0UV-01 COSM985238 c.1660C>T p.P554S Substitution - Missense 17:78807384-78807384 - CSCC-49-T COSM4564919 c.1544_1545CC>TT p.S515F Substitution - Missense 17:78807499-78807500 - TCGA-B5-A0K8-01 COSM985224 c.2874_2879delGAAAAA p.K959_K960delKK Deletion - In frame 17:78802467-78802472 - UM-SCC-2 COSM4272781 c.2273A>C p.H758P Substitution - Missense 17:78803922-78803922 - Pat_63_B COSM5853653 c.2258C>T p.P753L Substitution - Missense 17:78803937-78803937 - LUAD-F00257 COSM340109 c.2109C>T p.T703T Substitution - coding silent 17:78806263-78806263 - ESO-0103 COSM1270085 c.2715G>A p.T905T Substitution - coding silent 17:78803480-78803480 - SK01600_P COSM1600359 c.1816G>A p.D606N Substitution - Missense 17:78807228-78807228 - KPOPBR-05-T COSM5963255 c.2524G>A p.G842R Substitution - Missense 17:78803671-78803671 - TCGA-D1-A103-01 COSM985257 c.785C>T p.S262L Substitution - Missense 17:78821034-78821034 - Pat_41_B COSM5853655 c.1182G>A p.W394* Substitution - Nonsense 17:78813856-78813856 - CSCC-55-T COSM4565814 c.2570_2571CC>TT p.A857V Substitution - Missense 17:78803624-78803625 - PARBRK COSM5005582 c.147_149delCTC p.S50delS Deletion - In frame 17:78836215-78836217 - T55 COSM4739800 c.2417delA p.Q806fs*91 Deletion - Frameshift 17:78803778-78803778 - YUDEXA COSM1710859 c.2047C>T p.P683S Substitution - Missense 17:78806997-78806997 - TCGA-CM-6168-01 COSM1386494 c.2064delA p.K688fs*35 Deletion - Frameshift 17:78806980-78806980 - 112461 COSM95472 c.2782G>A p.G928S Substitution - Missense 17:78803413-78803413 - TCGA-DK-A3WW-01 COSM3796169 c.354C>T p.F118F Substitution - coding silent 17:78835401-78835401 - SW48 COSM2746665 c.562G>A p.V188I Substitution - Missense 17:78828921-78828921 - TCGA-ER-A19D-06 COSM316412 c.2342C>T p.S781L Substitution - Missense 17:78803853-78803853 - C086 COSM5541487 c.723C>T p.V241V Substitution - coding silent 17:78821971-78821971 - TCGA-B5-A0JY-01 COSM985218 c.3093A>C p.K1031N Substitution - Missense 17:78799698-78799698 - B23 COSM1750363 c.960A>T p.T320T Substitution - coding silent 17:78818730-78818730 - YUOTHO COSM5387523 c.1392C>T p.S464S Substitution - coding silent 17:78812875-78812875 - TCGA-G2-A2ES-01 COSM1303422 c.767C>A p.S256Y Substitution - Missense 17:78821052-78821052 - GC3_T COSM4168933 c.3313C>T p.R1105W Substitution - Missense 17:78798479-78798479 - TCGA-EB-A5SG-06 COSM3890594 c.2121C>T p.L707L Substitution - coding silent 17:78806251-78806251 - TCGA-BR-8361-01 COSM4070212 c.1735C>A p.L579I Substitution - Missense 17:78807309-78807309 - TCGA-AA-3821-01 COSM294938 c.941G>A p.R314H Substitution - Missense 17:78818749-78818749 - TCGA-B7-5816-01 COSM4070219 c.545G>A p.G182D Substitution - Missense 17:78828938-78828938 - T3202 COSM4739802 c.2298delC p.K767fs*130 Deletion - Frameshift 17:78803897-78803897 - TCGA-FK-A3SD-01 COSM340109 c.2109C>T p.T703T Substitution - coding silent 17:78806263-78806263 - TCGA-CJ-4878-01 COSM3362391 c.1037C>T p.P346L Substitution - Missense 17:78814539-78814539 - 824_T COSM3958880 c.913T>C p.C305R Substitution - Missense 17:78818777-78818777 - A3 COSM5350419 c.2551C>G p.R851G Substitution - Missense 17:78803644-78803644 - CN-AML-NR-08-Dx COSM5425525 c.3240+9T>C p.? Unknown 17:78798899-78798899 - RK099_C01 COSM1630462 c.390C>T p.T130T Substitution - coding silent 17:78835365-78835365 - 1517_CLM COSM5755163 c.286G>A p.G96R Substitution - Missense 17:78835469-78835469 - HCC163 COSM3717716 c.2451G>T p.V817V Substitution - coding silent 17:78803744-78803744 - TCGA-DR-A0ZM-01 COSM460188 c.3264G>C p.K1088N Substitution - Missense 17:78798528-78798528 - CSCC-31-T COSM4493055 c.408C>T p.T136T Substitution - coding silent 17:78835347-78835347 - TCGA-B5-A11E-01 COSM985254 c.814G>A p.A272T Substitution - Missense 17:78821005-78821005 - TCGA-Q1-A5R2-01 COSM95472 c.2782G>A p.G928S Substitution - Missense 17:78803413-78803413 - T1194 COSM4739798 c.3248A>C p.K1083T Substitution - Missense 17:78798544-78798544 - cSCCP6 COSM137125 c.292C>T p.P98S Substitution - Missense 17:78835463-78835463 - PT35 COSM5913964 c.164C>T p.A55V Substitution - Missense 17:78836200-78836200 - 64 COSM5015531 c.148T>C p.S50P Substitution - Missense 17:78836216-78836216 - 1517_PT COSM5755161 c.817C>A p.L273M Substitution - Missense 17:78821002-78821002 - S0083 COSM5882942 c.3047C>A p.S1016Y Substitution - Missense 17:78799744-78799744 - ASHPC_0031_Pa_P COSM4962827 c.1437G>A p.P479P Substitution - coding silent 17:78807607-78807607 - LUAD-D01382 COSM337038 c.627G>T p.A209A Substitution - coding silent 17:78827307-78827307 - TCGA-KK-A59V-01 COSM4878693 c.326G>A p.R109Q Substitution - Missense 17:78835429-78835429 - B70 COSM1750358 c.2837C>T p.P946L Substitution - Missense 17:78802509-78802509 - CSCC-15-T COSM4570029 c.2263T>G p.F755V Substitution - Missense 17:78803932-78803932 - 1517_PT COSM5755163 c.286G>A p.G96R Substitution - Missense 17:78835469-78835469 - TCGA-BS-A0UV-01 COSM985269 c.555C>A p.I185I Substitution - coding silent 17:78828928-78828928 - B70-Tumor COSM1750358 c.2837C>T p.P946L Substitution - Missense 17:78802509-78802509 - TCGA-EB-A431-01 COSM3523097 c.2554C>T p.P852S Substitution - Missense 17:78803641-78803641 - TCGA-CG-4465-01 COSM4070223 c.215G>A p.R72H Substitution - Missense 17:78836149-78836149 - Pat_31_A COSM5853647 c.3156delC p.S1053fs*58 Deletion - Frameshift 17:78798992-78798992 - T407 COSM4739812 c.679G>A p.G227S Substitution - Missense 17:78827255-78827255 - Au4 COSM5605308 c.1677G>A p.S559S Substitution - coding silent 17:78807367-78807367 - TCGA-EJ-5503-01 COSM1130135 c.3367C>T p.R1123C Substitution - Missense 17:78798425-78798425 - TCGA-EE-A2MT-06 COSM3523118 c.603C>T p.F201F Substitution - coding silent 17:78827331-78827331 - Pat_02_B COSM3523095 c.2767C>T p.L923F Substitution - Missense 17:78803428-78803428 - CSCC-40-T COSM4523541 c.1219G>A p.V407I Substitution - Missense 17:78813819-78813819 - Au3 COSM5602584 c.2445C>T p.T815T Substitution - coding silent 17:78803750-78803750 - COLO201 COSM2746672 c.259G>A p.E87K Substitution - Missense 17:78835496-78835496 - PDA_073 COSM5001874 c.259G>T p.E87* Substitution - Nonsense 17:78835496-78835496 - 585276 COSM326838 c.304A>G p.K102E Substitution - Missense 17:78835451-78835451 - TCGA-G4-6588-01 COSM1386498 c.535G>A p.A179T Substitution - Missense 17:78828948-78828948 - LN18 COSM985224 c.2874_2879delGAAAAA p.K959_K960delKK Deletion - In frame 17:78802467-78802472 - LIM1215 COSM4639427 c.2320C>T p.P774S Substitution - Missense 17:78803875-78803875 - MO_1012 COSM5556152 c.2783G>A p.G928D Substitution - Missense 17:78803412-78803412 - YULAN COSM1710861 c.1637C>T p.S546F Substitution - Missense 17:78807407-78807407 - B105-0 COSM1756955 c.1945G>A p.G649S Substitution - Missense 17:78807099-78807099 - TCGA-BR-8368-01 COSM4070208 c.2249G>A p.R750H Substitution - Missense 17:78803946-78803946 - CPCG0249-F1 COSM4879993 c.23A>G p.K8R Substitution - Missense 17:78836341-78836341 - HCC163T COSM3717716 c.2451G>T p.V817V Substitution - coding silent 17:78803744-78803744 - YUGURT COSM985231 c.2184C>T p.V728V Substitution - coding silent 17:78806188-78806188 - PD7399a COSM3720159 c.239C>T p.P80L Substitution - Missense 17:78836125-78836125 - CSCC-20-T COSM4500802 c.573C>T p.I191I Substitution - coding silent 17:78828910-78828910 - 8014964 COSM3388260 c.84T>C p.L28L Substitution - coding silent 17:78836280-78836280 - 202_T COSM3958878 c.2182G>C p.V728L Substitution - Missense 17:78806190-78806190 - BD72T COSM5513375 c.368G>A p.G123E Substitution - Missense 17:78835387-78835387 - TCGA-C8-A3M8-01 COSM3820816 c.3334C>T p.H1112Y Substitution - Missense 17:78798458-78798458 - S00944 COSM316414 c.2340C>G p.I780M Substitution - Missense 17:78803855-78803855 - H441 COSM1193543 c.488G>T p.S163I Substitution - Missense 17:78828995-78828995 - TCGA-AP-A0LM-01 COSM985231 c.2184C>T p.V728V Substitution - coding silent 17:78806188-78806188 - NB-3186 COSM1288853 c.1138G>T p.A380S Substitution - Missense 17:78814438-78814438 - TCGA-AG-A02G-01 COSM290595 c.2052A>G p.P684P Substitution - coding silent 17:78806992-78806992 - TCGA-BH-A0BV-01 COSM5215048 c.2416_2417insC p.Q806fs*5 Insertion - Frameshift 17:78803778-78803779 - ESO-0079 COSM1270083 c.1420G>T p.G474W Substitution - Missense 17:78807624-78807624 - T3024 COSM4739808 c.735_736insT p.G246fs*59 Insertion - Frameshift 17:78821958-78821959 - Pat_15_B COSM5853657 c.1054C>T p.R352C Substitution - Missense 17:78814522-78814522 - 07-058 COSM3736177 c.2482C>T p.R828C Substitution - Missense 17:78803713-78803713 - TCGA-E2-A15J-01 COSM437683 c.1538C>T p.S513F Substitution - Missense 17:78807506-78807506 - TCGA-37-5819-01 COSM707791 c.310C>T p.L104F Substitution - Missense 17:78835445-78835445 - TCGA-EE-A2GC-06 COSM3523093 c.3321C>T p.F1107F Substitution - coding silent 17:78798471-78798471 - TCGA-B5-A11E-01 COSM985248 c.1174G>T p.G392* Substitution - Nonsense 17:78813864-78813864 - KPOPBR-25-T COSM5963860 c.2266A>C p.S756R Substitution - Missense 17:78803929-78803929 - EGC15 COSM294938 c.941G>A p.R314H Substitution - Missense 17:78818749-78818749 - BD64T COSM985224 c.2874_2879delGAAAAA p.K959_K960delKK Deletion - In frame 17:78802467-78802472 - B80-1 COSM1756953 c.2324G>A p.R775Q Substitution - Missense 17:78803871-78803871 - CAL27 COSM4272781 c.2273A>C p.H758P Substitution - Missense 17:78803922-78803922 - TCGA-CM-4746-01 COSM1386496 c.559C>T p.P187S Substitution - Missense 17:78828924-78828924 - TCGA-BS-A0TC-01 COSM985272 c.126C>T p.F42F Substitution - coding silent 17:78836238-78836238 - 3N48-VS-3T48 COSM4982723 c.3246G>C p.K1082N Substitution - Missense 17:78798546-78798546 - LOVO COSM1386492 c.2416delC p.Q806fs*91 Deletion - Frameshift 17:78803779-78803779 - TCGA-FS-A1ZC-06 COSM3523105 c.1979C>T p.S660F Substitution - Missense 17:78807065-78807065 - TCGA-D1-A16F-01 COSM985260 c.689+4C>T p.? Unknown 17:78827241-78827241 - TCGA-ES-A2HT-01 COSM4938707 c.2346G>T p.T782T Substitution - coding silent 17:78803849-78803849 - B80-1-Tumor COSM1756953 c.2324G>A p.R775Q Substitution - Missense 17:78803871-78803871 - AOCS-094-6-X COSM4139913 c.2417A>C p.Q806P Substitution - Missense 17:78803778-78803778 - TCGA-BS-A0TA-01 COSM985215 c.3190C>T p.R1064W Substitution - Missense 17:78798958-78798958 - TCGA-D3-A51E-06 COSM3523116 c.661C>T p.Q221* Substitution - Nonsense 17:78827273-78827273 - TCGA-CG-5733-01 COSM4070204 c.2981G>A p.C994Y Substitution - Missense 17:78802365-78802365 - CSCC-31-T COSM4475678 c.2008C>T p.L670L Substitution - coding silent 17:78807036-78807036 - TCGA-AP-A0LM-01 COSM985263 c.652G>A p.D218N Substitution - Missense 17:78827282-78827282 - TCGA-EB-A431-01 COSM3523114 c.716C>T p.T239I Substitution - Missense 17:78821978-78821978 - CSCC-17-T COSM4473339 c.1843C>T p.P615S Substitution - Missense 17:78807201-78807201 - TCGA-AP-A056-01 COSM985213 c.3256A>C p.K1086Q Substitution - Missense 17:78798536-78798536 - TCGA-BR-8078-01 COSM4070217 c.550G>A p.A184T Substitution - Missense 17:78828933-78828933 - TCGA-BS-A0UJ-01 COSM985207 c.3342A>G p.A1114A Substitution - coding silent 17:78798450-78798450 - Pat_45_B COSM5853651 c.2418_2419insG p.S807fs*4 Insertion - Frameshift 17:78803776-78803777 - TCGA-AK-3445-01 COSM3362393 c.580C>A p.L194M Substitution - Missense 17:78828903-78828903 - CHC322T COSM3766200 c.2417A>G p.Q806R Substitution - Missense 17:78803778-78803778 - MO_1012 COSM5571393 c.1204G>T p.V402F Substitution - Missense 17:78813834-78813834 - PD11748a COSM5767482 c.757+6T>G p.? Unknown 17:78821931-78821931 - TCGA-BH-A18G-01 COSM3820820 c.2900G>A p.R967Q Substitution - Missense 17:78802446-78802446 - HCT8 COSM2746617 c.1207C>A p.H403N Substitution - Missense 17:78813831-78813831 - ESCC_55 COSM5631825 c.3229G>C p.D1077H Substitution - Missense 17:78798919-78798919 - T27 COSM5343042 c.1206C>T p.V402V Substitution - coding silent 17:78813832-78813832 - KM12 COSM1386492 c.2416delC p.Q806fs*91 Deletion - Frameshift 17:78803779-78803779 - TCGA-AX-A06H-01 COSM340109 c.2109C>T p.T703T Substitution - coding silent 17:78806263-78806263 - TCGA-BR-6565-01 COSM4070210 c.1965A>G p.P655P Substitution - coding silent 17:78807079-78807079 - 2492701 COSM5600833 c.89C>T p.S30F Substitution - Missense 17:78836275-78836275 - TCGA-E2-A155-01 COSM437687 c.325C>T p.R109* Substitution - Nonsense 17:78835430-78835430 - MD-051 COSM303532 c.1006G>T p.G336W Substitution - Missense 17:78818684-78818684 - S00944 COSM316412 c.2342C>T p.S781L Substitution - Missense 17:78803853-78803853 - 2492702 COSM5600833 c.89C>T p.S30F Substitution - Missense 17:78836275-78836275 - I2L-P7-Tumor-Organoid COSM5364389 c.2743C>T p.R915W Substitution - Missense 17:78803452-78803452 - TCGA-G4-6588-01 COSM1386492 c.2416delC p.Q806fs*91 Deletion - Frameshift 17:78803779-78803779 - DLD1 COSM2746617 c.1207C>A p.H403N Substitution - Missense 17:78813831-78813831 - CSCC-49-T COSM4570123 c.2372T>G p.L791R Substitution - Missense 17:78803823-78803823 - TCGA-37-4133-01 COSM1646872 c.3201C>T p.T1067T Substitution - coding silent 17:78798947-78798947 - B81-2 COSM1756957 c.1391C>T p.S464F Substitution - Missense 17:78812876-78812876 - PD18037a COSM5797934 c.1330G>T p.G444C Substitution - Missense 17:78812937-78812937 - TCGA-EP-A2KB-01 COSM4921285 c.1129A>G p.S377G Substitution - Missense 17:78814447-78814447 - CSCC-41-T COSM4543249 c.3346G>A p.A1116T Substitution - Missense 17:78798446-78798446 - LC_S11 COSM1189589 c.620A>T p.E207V Substitution - Missense 17:78827314-78827314 - ESCC_68 COSM5633898 c.3362A>G p.Y1121C Substitution - Missense 17:78798430-78798430 - PARBRK COSM2746659 c.659T>C p.M220T Substitution - Missense 17:78827275-78827275 - CSCC-44-T COSM4538486 c.2557G>A p.E853K Substitution - Missense 17:78803638-78803638 - 1517_CLM COSM5755161 c.817C>A p.L273M Substitution - Missense 17:78821002-78821002 - TCGA-B7-5818-01 COSM4070202 c.3123A>G p.K1041K Substitution - coding silent 17:78799668-78799668 - 2492703 COSM5600833 c.89C>T p.S30F Substitution - Missense 17:78836275-78836275 - TCGA-66-2742-01 COSM1646873 c.3219C>T p.D1073D Substitution - coding silent 17:78798929-78798929 - TCGA-AM-5821-01 COSM3755949 c.990C>T p.R330R Substitution - coding silent 17:78818700-78818700 - 107595 COSM96267 c.534C>T p.F178F Substitution - coding silent 17:78828949-78828949 - TCGA-CD-A4MJ-01 COSM4070221 c.355C>T p.R119C Substitution - Missense 17:78835400-78835400 - HT115 COSM2746583 c.1924G>A p.E642K Substitution - Missense 17:78807120-78807120 - T3503 COSM4739810 c.735delT p.F245fs*9 Deletion - Frameshift 17:78821959-78821959 - pfg008T COSM4739800 c.2417delA p.Q806fs*91 Deletion - Frameshift 17:78803778-78803778 - S0045 COSM5882944 c.1331G>A p.G444D Substitution - Missense 17:78812936-78812936 - TCGA-FS-A4F8-06 COSM3523095 c.2767C>T p.L923F Substitution - Missense 17:78803428-78803428 - B81-2-Tumor COSM1756957 c.1391C>T p.S464F Substitution - Missense 17:78812876-78812876 - LIM2405 COSM4642178 c.2548A>C p.K850Q Substitution - Missense 17:78803647-78803647 - CSCC-15-T COSM4474766 c.193C>T p.P65S Substitution - Missense 17:78836171-78836171 - TCGA-BR-8680-01 COSM4070225 c.119T>C p.I40T Substitution - Missense 17:78836245-78836245 - CSCC-62-T COSM4468466 c.1545C>T p.S515S Substitution - coding silent 17:78807499-78807499 - HCT15 COSM2746617 c.1207C>A p.H403N Substitution - Missense 17:78813831-78813831 - B70-Tumor COSM1750360 c.2836C>T p.P946S Substitution - Missense 17:78802510-78802510 - T3724 COSM4739804 c.2136_2137insC p.S713fs*25 Insertion - Frameshift 17:78806235-78806236 - TCGA-G4-6588-01 COSM3691888 c.796G>A p.D266N Substitution - Missense 17:78821023-78821023 - TCGA-24-1474-01 COSM115759 c.2479A>G p.T827A Substitution - Missense 17:78803716-78803716 - RK084_C01 COSM1630460 c.1249G>A p.V417M Substitution - Missense 17:78813789-78813789 - UM-SCC-17B COSM4272781 c.2273A>C p.H758P Substitution - Missense 17:78803922-78803922 - HN_62854 COSM130117 c.573C>G p.I191M Substitution - Missense 17:78828910-78828910 - 863TCS COSM673854 c.2003C>T p.P668L Substitution - Missense 17:78807041-78807041 - PDA_067 COSM5001483 c.2972C>T p.S991F Substitution - Missense 17:78802374-78802374 - 587376 COSM1232057 c.2439A>C p.K813N Substitution - Missense 17:78803756-78803756 - LUAD-F00365 COSM340482 c.2758G>C p.A920P Substitution - Missense 17:78803437-78803437 - 2492700 COSM5600833 c.89C>T p.S30F Substitution - Missense 17:78836275-78836275 - TCGA-BR-4256-01 COSM1646873 c.3219C>T p.D1073D Substitution - coding silent 17:78798929-78798929 - TCGA-HU-A4GQ-01 COSM985254 c.814G>A p.A272T Substitution - Missense 17:78821005-78821005 - TCGA-B5-A11E-01 COSM985227 c.2832T>C p.G944G Substitution - coding silent 17:78802514-78802514 - B23-Tumor COSM1750363 c.960A>T p.T320T Substitution - coding silent 17:78818730-78818730 - SJHGG019_S COSM1386490 c.2867A>G p.K956R Substitution - Missense 17:78802479-78802479 - TCGA-24-2298-01 COSM80730 c.2574C>T p.S858S Substitution - coding silent 17:78803621-78803621 - WA16 COSM242204 c.848G>A p.R283H Substitution - Missense 17:78819993-78819993 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.464214;Hs.464217;Hs.464224;Hs.464243 17q25.3 612543 2441779|CGAP|BC071582|A/G|coding|Gln806Arg|2717|Validated; 2441781|CGAP|BC071582|C/T|coding|Arg828Cys|2782|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.3369+63T>G 17 76794442 ESCA A C SpliceDonorSNV . c.2085+2T>G 17 76803039 PRAD A C Synonymous p.A1056A c.3168T>G 17 76795062 RCCC A G Missense p.L36P c.107T>C 17 76832339 LGG A G SpliceDonorSNV . c.3022+2T>C 17 76798404 UCEC A T Synonymous p.P1014P c.3042T>A 17 76795831 BRCA C A Missense p.A380S c.1138G>T 17 76810520 NB C A Missense p.G474W c.1420G>T 17 76803706 ESCA C A Missense p.R276L c.827G>T 17 76817074 LUSC C A Synonymous p.A209A c.627G>T 17 76823389 LUAD C T IntronicSNV . c.690-1014G>A 17 76819100 HC C T Missense p.A910T c.2728G>A 17 76799549 BRCA C T Missense p.C994Y c.2981G>A 17 76798447 STAD C T Missense p.G182D c.545G>A 17 76825020 STAD C T Missense p.R72H c.215G>A 17 76832231 STAD C T Missense p.V417M c.1249G>A 17 76809871 HC C T Synonymous p.A783A c.2349G>A 17 76799928 BRCA C T Synonymous p.G565G c.1695G>A 17 76803431 CM C T Synonymous p.G842G c.2526G>A 17 76799751 CM C T Synonymous p.Q396Q c.1188G>A 17 76809932 CM C T Synonymous p.R935R c.2805G>A 17 76799472 CM C T Synonymous p.S511S c.1533G>A 17 76803593 BRCA C T Synonymous p.T905T c.2715G>A 17 76799562 ESCA G A IntronicSNV . c.689+4C>T 17 76823323 UCEC G A Missense p.H726Y c.2176C>T 17 76802278 LUAD G A Missense p.L104F c.310C>T 17 76831527 LUSC G A Missense p.P346L c.1037C>T 17 76810621 RCCC G A Missense p.P465L c.1394C>T 17 76808955 CM G A Missense p.P65L c.194C>T 17 76832252 CM G A Missense p.P754S c.2260C>T 17 76800017 CM G A Missense p.R1064W c.3190C>T 17 76795040 UCEC G A Missense p.R1122C c.3364C>T 17 76794510 LUAD G A Missense p.R1123C c.3367C>T 17 76794507 PRAD G A Missense p.R276W c.826C>T 17 76817075 STAD G A Missense p.S513F c.1538C>T 17 76803588 BRCA G A Missense p.S660F c.1979C>T 17 76803147 CM G A Missense p.S747L c.2240C>T 17 76800037 CM G A Missense p.S781L c.2342C>T 17 76799935 CM G A Missense p.S781L c.2342C>T 17 76799935 SCLC G A Nonsense p.R109* c.325C>T 17 76831512 BRCA G A Synonymous p.D1073D c.3219C>T 17 76795011 LUSC G A Synonymous p.D1073D c.3219C>T 17 76795011 STAD G A Synonymous p.F1107F c.3321C>T 17 76794553 CM G A Synonymous p.F178F c.534C>T 17 76825031 AML G A Synonymous p.F201F c.603C>T 17 76823413 CM G A Synonymous p.F42F c.126C>T 17 76832320 UCEC G A Synonymous p.H452H c.1356C>T 17 76808993 ESCA G A Synonymous p.L249L c.747C>T 17 76818029 STAD G A Synonymous p.R119R c.357C>T 17 76831480 LUAD G A Synonymous p.S858S c.2574C>T 17 76799703 OV G A Synonymous p.T1067T c.3201C>T 17 76795029 LUSC G A Synonymous p.T130T c.390C>T 17 76831447 HC G A Synonymous p.T703T c.2109C>T 17 76802345 THCA G A Synonymous p.T703T c.2109C>T 17 76802345 UCEC G A Synonymous p.V728V c.2184C>T 17 76802270 CM G C Missense p.H1112D c.3334C>G 17 76794540 LUAD G C Missense p.I191M c.573C>G 17 76824992 HNSC G C Missense p.I780M c.2340C>G 17 76799937 SCLC - G Frameshift p.Q806Pfs*5 c.2416dupC 17 76799861 LUAD GG AA IntronicBlockSubstitution . c.1-56_1-55delinsTT 17 76832500 CM G T Missense p.L194M c.580C>A 17 76824985 RCCC G T Missense p.S256Y c.767C>A 17 76817134 BLCA G T Synonymous p.R72R c.216C>A 17 76832230 COREAD T C Missense p.I3V c.7A>G 17 76832439 HNSC T C Missense p.K102E c.304A>G 17 76831533 SCLC T C Missense p.N134D c.400A>G 17 76831437 LUSC T C Missense p.T827A c.2479A>G 17 76799798 OV T C Synonymous p.K1041K c.3123A>G 17 76795750 STAD T C Synonymous p.P655P c.1965A>G 17 76803161 STAD T C Synonymous p.P684P c.2052A>G 17 76803074 COREAD