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 1 78163129 78163129 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr1:78163129G>A c.2702C>T c.(2701-2703)aCa>aTa p.T901I BLCA 1 78163603 78163603 + Silent SNP A A G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr1:78163603A>G c.2616T>C c.(2614-2616)ccT>ccC p.P872P BLCA 1 78163605 78163605 + Missense_Mutation SNP G G A TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr1:78163605G>A c.2614C>T c.(2614-2616)Cct>Tct p.P872S BLCA 1 78177467 78177467 + Nonsense_Mutation SNP T T A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr1:78177467T>A c.2464A>T c.(2464-2466)Aaa>Taa p.K822* BLCA 1 78180315 78180315 + Frame_Shift_Del DEL A A - TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr1:78180315delA c.2292delT c.(2290-2292)tttfs p.F764fs BLCA 1 78183627 78183627 + Missense_Mutation SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr1:78183627G>T c.1936C>A c.(1936-1938)Ctt>Att p.L646I BLCA 1 78183636 78183636 + Missense_Mutation SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 g.chr1:78183636G>T c.1927C>A c.(1927-1929)Cag>Aag p.Q643K BLCA 1 78187599 78187599 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chr1:78187599G>A c.1667C>T c.(1666-1668)tCa>tTa p.S556L BLCA 1 78187749 78187749 + Missense_Mutation SNP G G A TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr1:78187749G>A c.1615C>T c.(1615-1617)Cca>Tca p.P539S BLCA 1 78191394 78191394 + Missense_Mutation SNP A A G TCGA-GV-A6ZA-01A-12D-A339-08 TCGA-GV-A6ZA-10A-01D-A339-08 g.chr1:78191394A>G c.1282T>C c.(1282-1284)Tca>Cca p.S428P BLCA 1 78194265 78194265 + Missense_Mutation SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr1:78194265C>T c.943G>A c.(943-945)Gat>Aat p.D315N BLCA 1 78195559 78195559 + Missense_Mutation SNP C C T TCGA-FD-A62N-01A-11D-A30E-08 TCGA-FD-A62N-10A-01D-A30H-08 g.chr1:78195559C>T c.796G>A c.(796-798)Ggg>Agg p.G266R BLCA 1 78204948 78204948 + Splice_Site SNP A A G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr1:78204948A>G c.e6+1 BLCA 1 78205089 78205089 + Missense_Mutation SNP T T C TCGA-5N-A9KI-01A-31D-A42E-08 TCGA-5N-A9KI-10A-01D-A42H-08 g.chr1:78205089T>C c.305A>G c.(304-306)tAt>tGt p.Y102C BRCA 1 78163138 78163138 + Missense_Mutation SNP G G C TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 g.chr1:78163138G>C c.2693C>G c.(2692-2694)tCt>tGt p.S898C BRCA 1 78181537 78181537 + Silent SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr1:78181537G>T c.2028C>A c.(2026-2028)gcC>gcA p.A676A BRCA 1 78187538 78187538 + Missense_Mutation SNP G G C TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 g.chr1:78187538G>C c.1728C>G c.(1726-1728)ttC>ttG p.F576L BRCA 1 78191440 78191440 + Missense_Mutation SNP G G C TCGA-A2-A0CX-01A-21W-A019-09 TCGA-A2-A0CX-10A-01W-A021-09 g.chr1:78191440G>C c.1236C>G c.(1234-1236)atC>atG p.I412M BRCA 1 78194177 78194177 + Missense_Mutation SNP T T A TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 g.chr1:78194177T>A c.1031A>T c.(1030-1032)aAt>aTt p.N344I BRCA 1 78205076 78205076 + Missense_Mutation SNP G G T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 g.chr1:78205076G>T c.318C>A c.(316-318)aaC>aaA p.N106K CESC 1 78183553 78183553 + Splice_Site SNP A A C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 g.chr1:78183553A>C c.2010T>G c.(2008-2010)agT>agG p.S670R CESC 1 78189054 78189054 + Missense_Mutation SNP T T G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 g.chr1:78189054T>G c.1444A>C c.(1444-1446)Aca>Cca p.T482P CESC 1 78194240 78194240 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr1:78194240G>A c.968C>T c.(967-969)tCt>tTt p.S323F COAD 1 78163131 78163131 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:78163131T>G c.2700A>C c.(2698-2700)gaA>gaC p.E900D COAD 1 78167057 78167057 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr1:78167057C>T c.2599G>A c.(2599-2601)Gga>Aga p.G867R COAD 1 78180333 78180333 + Silent SNP A A T TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr1:78180333A>T c.2274T>A c.(2272-2274)ccT>ccA p.P758P COAD 1 78184290 78184290 + Silent SNP G G A TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr1:78184290G>A c.1821C>T c.(1819-1821)aaC>aaT p.N607N COAD 1 78187813 78187813 + Missense_Mutation SNP C C A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr1:78187813C>A c.1551G>T c.(1549-1551)aaG>aaT p.K517N COAD 1 78189059 78189059 + Missense_Mutation SNP T T A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:78189059T>A c.1439A>T c.(1438-1440)gAt>gTt p.D480V COAD 1 78191321 78191321 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:78191321G>A c.1355C>T c.(1354-1356)cCa>cTa p.P452L COAD 1 78191364 78191364 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:78191364C>T c.1312G>A c.(1312-1314)Gca>Aca p.A438T COAD 1 78194070 78194070 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:78194070C>T c.1138G>A c.(1138-1140)Gaa>Aaa p.E380K COAD 1 78201825 78201825 + Missense_Mutation SNP T T C TCGA-AA-3852-01A-01W-0900-09 TCGA-AA-3852-10A-01W-0900-09 g.chr1:78201825T>C c.463A>G c.(463-465)Aat>Gat p.N155D COAD 1 78207369 78207369 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:78207369C>T c.107G>A c.(106-108)cGa>cAa p.R36Q COADREAD 1 78163131 78163131 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:78163131T>G c.2700A>C c.(2698-2700)gaA>gaC p.E900D COADREAD 1 78167057 78167057 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr1:78167057C>T c.2599G>A c.(2599-2601)Gga>Aga p.G867R COADREAD 1 78180333 78180333 + Silent SNP A A G TCGA-AH-6549-01A-11D-1826-10 TCGA-AH-6549-10A-01D-1826-10 g.chr1:78180333A>G c.2274T>C c.(2272-2274)ccT>ccC p.P758P COADREAD 1 78180333 78180333 + Silent SNP A A T TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr1:78180333A>T c.2274T>A c.(2272-2274)ccT>ccA p.P758P COADREAD 1 78181514 78181514 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:78181514T>G c.2051A>C c.(2050-2052)aAt>aCt p.N684T COADREAD 1 78184290 78184290 + Silent SNP G G A TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr1:78184290G>A c.1821C>T c.(1819-1821)aaC>aaT p.N607N COADREAD 1 78187813 78187813 + Missense_Mutation SNP C C A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr1:78187813C>A c.1551G>T c.(1549-1551)aaG>aaT p.K517N COADREAD 1 78189059 78189059 + Missense_Mutation SNP T T A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:78189059T>A c.1439A>T c.(1438-1440)gAt>gTt p.D480V COADREAD 1 78191321 78191321 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:78191321G>A c.1355C>T c.(1354-1356)cCa>cTa p.P452L COADREAD 1 78191364 78191364 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:78191364C>T c.1312G>A c.(1312-1314)Gca>Aca p.A438T COADREAD 1 78194070 78194070 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:78194070C>T c.1138G>A c.(1138-1140)Gaa>Aaa p.E380K COADREAD 1 78194258 78194258 + Missense_Mutation SNP T T G TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr1:78194258T>G c.950A>C c.(949-951)gAt>gCt p.D317A COADREAD 1 78201825 78201825 + Missense_Mutation SNP T T C TCGA-AA-3852-01A-01W-0900-09 TCGA-AA-3852-10A-01W-0900-09 g.chr1:78201825T>C c.463A>G c.(463-465)Aat>Gat p.N155D COADREAD 1 78207369 78207369 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:78207369C>T c.107G>A c.(106-108)cGa>cAa p.R36Q COADREAD 1 78207406 78207406 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:78207406T>C c.70A>G c.(70-72)Aaa>Gaa p.K24E COADREAD 1 78207427 78207427 + Missense_Mutation SNP G G A TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr1:78207427G>A c.49C>T c.(49-51)Cct>Tct p.P17S ESCA 1 78163138 78163138 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr1:78163138G>A c.2693C>T c.(2692-2694)tCt>tTt p.S898F ESCA 1 78177527 78177527 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr1:78177527G>T c.2404C>A c.(2404-2406)Cca>Aca p.P802T ESCA 1 78191334 78191334 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 g.chr1:78191334G>A c.1342C>T c.(1342-1344)Cca>Tca p.P448S ESCA 1 78200089 78200089 + Missense_Mutation SNP A A C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 g.chr1:78200089A>C c.560T>G c.(559-561)tTg>tGg p.L187W ESCA 1 78207076 78207076 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr1:78207076A>G c.213T>C c.(211-213)ctT>ctC p.L71L GBMLGG 1 78163125 78163125 + Missense_Mutation SNP C C A TCGA-FG-A6J3-01A-11D-A31L-08 TCGA-FG-A6J3-10A-01D-A31J-08 g.chr1:78163125C>A c.2706G>T c.(2704-2706)tgG>tgT p.W902C GBMLGG 1 78180376 78180376 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:78180376C>T c.2231G>A c.(2230-2232)cGa>cAa p.R744Q GBMLGG 1 78183609 78183609 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:78183609C>A c.1954G>T c.(1954-1956)Gct>Tct p.A652S HNSC 1 78163136 78163136 + Missense_Mutation SNP C C G TCGA-P3-A5QF-01A-11D-A28R-08 TCGA-P3-A5QF-10A-01D-A28U-08 g.chr1:78163136C>G c.2695G>C c.(2695-2697)Gaa>Caa p.E899Q HNSC 1 78163136 78163136 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr1:78163136C>T c.2695G>A c.(2695-2697)Gaa>Aaa p.E899K HNSC 1 78177463 78177463 + Missense_Mutation SNP C C T TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr1:78177463C>T c.2468G>A c.(2467-2469)aGa>aAa p.R823K HNSC 1 78180383 78180383 + Missense_Mutation SNP T T C TCGA-BA-A6D8-01A-31D-A31L-08 TCGA-BA-A6D8-10A-01D-A31J-08 g.chr1:78180383T>C c.2224A>G c.(2224-2226)Att>Gtt p.I742V HNSC 1 78183606 78183606 + Missense_Mutation SNP G G C TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 g.chr1:78183606G>C c.1957C>G c.(1957-1959)Caa>Gaa p.Q653E HNSC 1 78183639 78183639 + Missense_Mutation SNP G G C TCGA-CV-A463-01A-11D-A25Y-08 TCGA-CV-A463-10A-01D-A25Y-08 g.chr1:78183639G>C c.1924C>G c.(1924-1926)Ctt>Gtt p.L642V HNSC 1 78183706 78183706 + Silent SNP G G A TCGA-D6-A6ES-01A-12D-A31L-08 TCGA-D6-A6ES-10A-01D-A31J-08 g.chr1:78183706G>A c.1857C>T c.(1855-1857)ttC>ttT p.F619F HNSC 1 78191355 78191355 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr1:78191355G>A c.1321C>T c.(1321-1323)Cct>Tct p.P441S HNSC 1 78194375 78194375 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 g.chr1:78194375C>T c.833G>A c.(832-834)tGt>tAt p.C278Y HNSC 1 78200086 78200086 + Missense_Mutation SNP T T C TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr1:78200086T>C c.563A>G c.(562-564)aAa>aGa p.K188R HNSC 1 78200091 78200091 + Silent SNP A A G TCGA-MT-A67A-01A-11D-A30E-08 TCGA-MT-A67A-10A-01D-A30H-08 g.chr1:78200091A>G c.558T>C c.(556-558)ggT>ggC p.G186G HNSC 1 78204976 78204976 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr1:78204976G>C c.418C>G c.(418-420)Cac>Gac p.H140D HNSC 1 78207408 78207408 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 g.chr1:78207408C>T c.68G>A c.(67-69)gGg>gAg p.G23E KICH 1 78177501 78177501 + Silent SNP A A G TCGA-KN-8433-01A-11D-2310-10 TCGA-KN-8433-11A-01D-2311-10 g.chr1:78177501A>G c.2430T>C c.(2428-2430)tgT>tgC p.C810C KIPAN 1 78167136 78167136 + Frame_Shift_Del DEL T T - TCGA-BP-4999-01A-01D-1462-08 TCGA-BP-4999-11A-01D-1462-08 g.chr1:78167136delT c.2520delA c.(2518-2520)aaafs p.K840fs KIPAN 1 78177501 78177501 + Silent SNP A A G TCGA-KN-8433-01A-11D-2310-10 TCGA-KN-8433-11A-01D-2311-10 g.chr1:78177501A>G c.2430T>C c.(2428-2430)tgT>tgC p.C810C KIPAN 1 78195568 78195568 + Missense_Mutation SNP T T C TCGA-CW-5580-01A-01D-1669-08 TCGA-CW-5580-11A-02D-1669-08 g.chr1:78195568T>C c.787A>G c.(787-789)Aca>Gca p.T263A KIRC 1 78167136 78167136 + Frame_Shift_Del DEL T T - TCGA-BP-4999-01A-01D-1462-08 TCGA-BP-4999-11A-01D-1462-08 g.chr1:78167136delT c.2520delA c.(2518-2520)aaafs p.K840fs KIRC 1 78195568 78195568 + Missense_Mutation SNP T T C TCGA-CW-5580-01A-01D-1669-08 TCGA-CW-5580-11A-02D-1669-08 g.chr1:78195568T>C c.787A>G c.(787-789)Aca>Gca p.T263A LGG 1 78163125 78163125 + Missense_Mutation SNP C C A TCGA-FG-A6J3-01A-11D-A31L-08 TCGA-FG-A6J3-10A-01D-A31J-08 g.chr1:78163125C>A c.2706G>T c.(2704-2706)tgG>tgT p.W902C LGG 1 78180376 78180376 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:78180376C>T c.2231G>A c.(2230-2232)cGa>cAa p.R744Q LGG 1 78183609 78183609 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:78183609C>A c.1954G>T c.(1954-1956)Gct>Tct p.A652S LIHC 1 78183652 78183652 + Silent SNP T T C TCGA-BC-A3KG-01A-11D-A20W-10 TCGA-BC-A3KG-10A-01D-A20W-10 g.chr1:78183652T>C c.1911A>G c.(1909-1911)ctA>ctG p.L637L LUAD 1 78167087 78167087 + Missense_Mutation SNP C C T TCGA-50-5045-01A-01D-1625-08 TCGA-50-5045-10A-01D-1625-08 g.chr1:78167087C>T c.2569G>A c.(2569-2571)Gaa>Aaa p.E857K LUAD 1 78180383 78180383 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 g.chr1:78180383T>C c.2224A>G c.(2224-2226)Att>Gtt p.I742V LUAD 1 78181454 78181454 + Missense_Mutation SNP T T A TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr1:78181454T>A c.2111A>T c.(2110-2112)aAt>aTt p.N704I LUAD 1 78187554 78187554 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr1:78187554T>A c.1712A>T c.(1711-1713)gAt>gTt p.D571V LUAD 1 78187556 78187556 + Silent SNP T T C TCGA-17-Z044-01A-01W-0746-08 TCGA-17-Z044-11A-01W-0746-08 g.chr1:78187556T>C c.1710A>G c.(1708-1710)caA>caG p.Q570Q LUAD 1 78187836 78187836 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr1:78187836G>A c.1528C>T c.(1528-1530)Cct>Tct p.P510S LUAD 1 78189060 78189060 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 g.chr1:78189060C>G c.1438G>C c.(1438-1440)Gat>Cat p.D480H LUAD 1 78189129 78189129 + Splice_Site SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr1:78189129C>A c.e13-1 LUAD 1 78193978 78193978 + Splice_Site SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr1:78193978A>G c.e11+1 LUAD 1 78193990 78193990 + Silent SNP G G A TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr1:78193990G>A c.1218C>T c.(1216-1218)agC>agT p.S406S LUAD 1 78194222 78194222 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 g.chr1:78194222C>A c.986G>T c.(985-987)aGa>aTa p.R329I LUAD 1 78204952 78204952 + Frame_Shift_Del DEL G G - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 g.chr1:78204952delG c.442delC c.(442-444)cagfs p.Q148fs LUAD 1 78207102 78207102 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 g.chr1:78207102C>A c.187G>T c.(187-189)Gat>Tat p.D63Y LUAD 1 78207349 78207349 + Frame_Shift_Del DEL C C - TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 g.chr1:78207349delC c.127delG c.(127-129)gatfs p.D43fs LUSC 1 78163019 78163019 + Missense_Mutation SNP C C T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr1:78163019C>T c.2812G>A c.(2812-2814)Gaa>Aaa p.E938K LUSC 1 78177450 78177450 + Silent SNP T T C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 g.chr1:78177450T>C c.2481A>G c.(2479-2481)gaA>gaG p.E827E LUSC 1 78183552 78183552 + Splice_Site SNP T T C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 g.chr1:78183552T>C c.2011A>G c.(2011-2013)Agt>Ggt p.S671G LUSC 1 78184286 78184286 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:78184286G>A c.1825C>T c.(1825-1827)Cct>Tct p.P609S LUSC 1 78194184 78194184 + Missense_Mutation SNP C C G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 g.chr1:78194184C>G c.1024G>C c.(1024-1026)Gat>Cat p.D342H LUSC 1 78207351 78207351 + Missense_Mutation SNP A A C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 g.chr1:78207351A>C c.125T>G c.(124-126)tTg>tGg p.L42W LUSC 1 78207376 78207376 + Missense_Mutation SNP C C T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 g.chr1:78207376C>T c.100G>A c.(100-102)Gct>Act p.A34T OV 1 78180334 78180334 + Missense_Mutation SNP G G C TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 g.chr1:78180334G>C c.2273C>G c.(2272-2274)cCt>cGt p.P758R OV 1 78200077 78200077 + Missense_Mutation SNP C C A TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 g.chr1:78200077C>A c.572G>T c.(571-573)gGa>gTa p.G191V PAAD 1 78167123 78167123 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:78167123C>A c.2533G>T c.(2533-2535)Gct>Tct p.A845S PAAD 1 78178968 78178969 + Splice_Site INS - - A TCGA-IB-A6UF-01A-23D-A33T-08 TCGA-IB-A6UF-10A-01D-A33W-08 g.chr1:78178968_78178969insA c.e21-2 PAAD 1 78201795 78201795 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:78201795C>T c.493G>A c.(493-495)Gta>Ata p.V165I PRAD 1 78184290 78184291 + Frame_Shift_Ins INS - - T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:78184290_78184291insT c.1820_1821insA c.(1819-1821)aacfs p.N607fs PRAD 1 78187835 78187835 + Missense_Mutation SNP G G T TCGA-KK-A7B1-01A-11D-A32B-08 TCGA-KK-A7B1-11A-12D-A329-08 g.chr1:78187835G>T c.1529C>A c.(1528-1530)cCt>cAt p.P510H PRAD 1 78194272 78194272 + Silent SNP G G A TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 g.chr1:78194272G>A c.936C>T c.(934-936)agC>agT p.S312S READ 1 78180333 78180333 + Silent SNP A A G TCGA-AH-6549-01A-11D-1826-10 TCGA-AH-6549-10A-01D-1826-10 g.chr1:78180333A>G c.2274T>C c.(2272-2274)ccT>ccC p.P758P READ 1 78181514 78181514 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:78181514T>G c.2051A>C c.(2050-2052)aAt>aCt p.N684T READ 1 78194258 78194258 + Missense_Mutation SNP T T G TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr1:78194258T>G c.950A>C c.(949-951)gAt>gCt p.D317A READ 1 78207406 78207406 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:78207406T>C c.70A>G c.(70-72)Aaa>Gaa p.K24E READ 1 78207427 78207427 + Missense_Mutation SNP G G A TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr1:78207427G>A c.49C>T c.(49-51)Cct>Tct p.P17S SKCM 1 78177434 78177434 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:78177434G>A c.2497C>T c.(2497-2499)Cgg>Tgg p.R833W SKCM 1 78177436 78177436 + Missense_Mutation SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr1:78177436A>T c.2495T>A c.(2494-2496)aTt>aAt p.I832N SKCM 1 78180377 78180377 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr1:78180377G>A c.2230C>T c.(2230-2232)Cga>Tga p.R744* SKCM 1 78183733 78183733 + Splice_Site SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr1:78183733C>T c.e18-1 SKCM 1 78184297 78184297 + Missense_Mutation SNP A A C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr1:78184297A>C c.1814T>G c.(1813-1815)gTa>gGa p.V605G SKCM 1 78189114 78189114 + Missense_Mutation SNP G G A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr1:78189114G>A c.1384C>T c.(1384-1386)Cca>Tca p.P462S SKCM 1 78191348 78191348 + Missense_Mutation SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr1:78191348G>A c.1328C>T c.(1327-1329)tCa>tTa p.S443L SKCM 1 78191366 78191366 + Missense_Mutation SNP G G A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 g.chr1:78191366G>A c.1310C>T c.(1309-1311)tCg>tTg p.S437L SKCM 1 78191401 78191401 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr1:78191401G>A c.1275C>T c.(1273-1275)atC>atT p.I425I SKCM 1 78204952 78204952 + Missense_Mutation SNP G G C TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr1:78204952G>C c.442C>G c.(442-444)Cag>Gag p.Q148E SKCM 1 78207390 78207390 + Missense_Mutation SNP G G A TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr1:78207390G>A c.86C>T c.(85-87)cCt>cTt p.P29L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 78183676 78183676 single base substitution G A downstream_gene_variant BLCA-CN 1 78183676 78183676 single base substitution G A exon_variant BLCA-CN 1 78183676 78183676 single base substitution G A synonymous_variant I233I 699C>T BLCA-CN 1 78183676 78183676 single base substitution G A synonymous_variant I598I 1794C>T BLCA-CN 1 78183676 78183676 single base substitution G A synonymous_variant I621I 1863C>T BLCA-CN 1 78183676 78183676 single base substitution G A synonymous_variant I629I 1887C>T BLCA-CN 1 78183676 78183676 single base substitution G A upstream_gene_variant BLCA-CN 1 78194063 78194063 single base substitution T C missense_variant D351G 1052A>G BLCA-CN 1 78194063 78194063 single base substitution T C missense_variant D382G 1145A>G BLCA-CN 1 78194063 78194063 single base substitution T C upstream_gene_variant BLCA-US 1 78163603 78163603 single base substitution A G exon_variant BLCA-US 1 78163603 78163603 single base substitution A G missense_variant L442P 1325T>C BLCA-US 1 78163603 78163603 single base substitution A G synonymous_variant P841P 2523T>C BLCA-US 1 78163603 78163603 single base substitution A G synonymous_variant P872P 2616T>C BLCA-US 1 78177467 78177467 single base substitution T A 3_prime_UTR_variant BLCA-US 1 78177467 78177467 single base substitution T A downstream_gene_variant BLCA-US 1 78177467 78177467 single base substitution T A exon_variant BLCA-US 1 78177467 78177467 single base substitution T A stop_gained K426* 1276A>T BLCA-US 1 78177467 78177467 single base substitution T A stop_gained K791* 2371A>T BLCA-US 1 78177467 78177467 single base substitution T A stop_gained K814* 2440A>T BLCA-US 1 78177467 78177467 single base substitution T A stop_gained K822* 2464A>T BLCA-US 1 78180315 78180315 deletion of <=200bp A - downstream_gene_variant BLCA-US 1 78180315 78180315 deletion of <=200bp A - exon_variant BLCA-US 1 78180315 78180315 deletion of <=200bp A - frameshift_variant F368 BLCA-US 1 78180315 78180315 deletion of <=200bp A - frameshift_variant F733 BLCA-US 1 78180315 78180315 deletion of <=200bp A - frameshift_variant F756 BLCA-US 1 78180315 78180315 deletion of <=200bp A - frameshift_variant F764 BLCA-US 1 78180315 78180315 deletion of <=200bp A - intron_variant BLCA-US 1 78180315 78180315 deletion of <=200bp A - upstream_gene_variant BLCA-US 1 78187599 78187599 single base substitution G A exon_variant BLCA-US 1 78187599 78187599 single base substitution G A intron_variant BLCA-US 1 78187599 78187599 single base substitution G A missense_variant S160L 479C>T BLCA-US 1 78187599 78187599 single base substitution G A missense_variant S525L 1574C>T BLCA-US 1 78187599 78187599 single base substitution G A missense_variant S556L 1667C>T BLCA-US 1 78187599 78187599 single base substitution G A upstream_gene_variant BOCA-FR 1 78201804 78201804 single base substitution G T downstream_gene_variant BOCA-FR 1 78201804 78201804 single base substitution G T missense_variant L131M 391C>A BOCA-FR 1 78201804 78201804 single base substitution G T missense_variant L162M 484C>A BRCA-EU 1 78157306 78157306 single base substitution C G downstream_gene_variant BRCA-EU 1 78157950 78157950 single base substitution C T downstream_gene_variant BRCA-EU 1 78158015 78158015 single base substitution G T downstream_gene_variant BRCA-EU 1 78160480 78160480 single base substitution T C downstream_gene_variant BRCA-EU 1 78160513 78160513 single base substitution G C downstream_gene_variant BRCA-EU 1 78161503 78161503 single base substitution G T downstream_gene_variant BRCA-EU 1 78162716 78162716 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 78162716 78162716 single base substitution G A downstream_gene_variant BRCA-EU 1 78164807 78164807 insertion of <=200bp - A intron_variant BRCA-EU 1 78165158 78165158 single base substitution C T intron_variant BRCA-EU 1 78167168 78167168 deletion of <=200bp A - exon_variant BRCA-EU 1 78167168 78167168 deletion of <=200bp A - intron_variant BRCA-EU 1 78167247 78167247 single base substitution C G exon_variant BRCA-EU 1 78167247 78167247 single base substitution C G intron_variant BRCA-EU 1 78167418 78167418 single base substitution G A intron_variant BRCA-EU 1 78167418 78167418 single base substitution G A upstream_gene_variant BRCA-EU 1 78169096 78169096 single base substitution G C intron_variant BRCA-EU 1 78169096 78169096 single base substitution G C upstream_gene_variant BRCA-EU 1 78169106 78169106 single base substitution C T intron_variant BRCA-EU 1 78169106 78169106 single base substitution C T upstream_gene_variant BRCA-EU 1 78170672 78170672 single base substitution C T intron_variant BRCA-EU 1 78170672 78170672 single base substitution C T upstream_gene_variant BRCA-EU 1 78171322 78171322 single base substitution A G intron_variant BRCA-EU 1 78171322 78171322 single base substitution A G upstream_gene_variant BRCA-EU 1 78172204 78172204 single base substitution G A downstream_gene_variant BRCA-EU 1 78172204 78172204 single base substitution G A intron_variant BRCA-EU 1 78172204 78172204 single base substitution G A upstream_gene_variant BRCA-EU 1 78172507 78172507 single base substitution G A downstream_gene_variant BRCA-EU 1 78172507 78172507 single base substitution G A intron_variant BRCA-EU 1 78174296 78174296 single base substitution G A downstream_gene_variant BRCA-EU 1 78174296 78174296 single base substitution G A intron_variant BRCA-EU 1 78174420 78174420 single base substitution A G downstream_gene_variant BRCA-EU 1 78174420 78174420 single base substitution A G intron_variant BRCA-EU 1 78176024 78176024 single base substitution G A downstream_gene_variant BRCA-EU 1 78176024 78176024 single base substitution G A intron_variant BRCA-EU 1 78176340 78176340 single base substitution G C downstream_gene_variant BRCA-EU 1 78176340 78176340 single base substitution G C intron_variant BRCA-EU 1 78178596 78178596 single base substitution A G downstream_gene_variant BRCA-EU 1 78178596 78178596 single base substitution A G intron_variant BRCA-EU 1 78178753 78178753 single base substitution C A downstream_gene_variant BRCA-EU 1 78178753 78178753 single base substitution C A intron_variant BRCA-EU 1 78178851 78178851 single base substitution C G downstream_gene_variant BRCA-EU 1 78178851 78178851 single base substitution C G intron_variant BRCA-EU 1 78179063 78179063 single base substitution T A downstream_gene_variant BRCA-EU 1 78179063 78179063 single base substitution T A exon_variant BRCA-EU 1 78179063 78179063 single base substitution T A intron_variant BRCA-EU 1 78179844 78179844 single base substitution C T downstream_gene_variant BRCA-EU 1 78179844 78179844 single base substitution C T intron_variant BRCA-EU 1 78179844 78179844 single base substitution C T upstream_gene_variant BRCA-EU 1 78180889 78180892 deletion of <=200bp TCTT - downstream_gene_variant BRCA-EU 1 78180889 78180892 deletion of <=200bp TCTT - intron_variant BRCA-EU 1 78180889 78180892 deletion of <=200bp TCTT - upstream_gene_variant BRCA-EU 1 78182077 78182077 single base substitution G A downstream_gene_variant BRCA-EU 1 78182077 78182077 single base substitution G A intron_variant BRCA-EU 1 78182077 78182077 single base substitution G A upstream_gene_variant BRCA-EU 1 78183924 78183924 single base substitution G T intron_variant BRCA-EU 1 78183924 78183924 single base substitution G T upstream_gene_variant BRCA-EU 1 78184599 78184599 single base substitution G A intron_variant BRCA-EU 1 78184599 78184599 single base substitution G A upstream_gene_variant BRCA-EU 1 78185179 78185179 single base substitution A G intron_variant BRCA-EU 1 78185179 78185179 single base substitution A G upstream_gene_variant BRCA-EU 1 78187539 78187539 single base substitution A G exon_variant BRCA-EU 1 78187539 78187539 single base substitution A G missense_variant F180S 539T>C BRCA-EU 1 78187539 78187539 single base substitution A G missense_variant F545S 1634T>C BRCA-EU 1 78187539 78187539 single base substitution A G missense_variant F568S 1703T>C BRCA-EU 1 78187539 78187539 single base substitution A G missense_variant F576S 1727T>C BRCA-EU 1 78187539 78187539 single base substitution A G upstream_gene_variant BRCA-EU 1 78188000 78188000 insertion of <=200bp - A exon_variant BRCA-EU 1 78188000 78188000 insertion of <=200bp - A intron_variant BRCA-EU 1 78188000 78188000 insertion of <=200bp - A upstream_gene_variant BRCA-EU 1 78188434 78188434 single base substitution G C intron_variant BRCA-EU 1 78188434 78188434 single base substitution G C upstream_gene_variant BRCA-EU 1 78190326 78190326 single base substitution G A intron_variant BRCA-EU 1 78190326 78190326 single base substitution G A upstream_gene_variant BRCA-EU 1 78190735 78190735 deletion of <=200bp A - intron_variant BRCA-EU 1 78190735 78190735 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 78190806 78190806 single base substitution C T intron_variant BRCA-EU 1 78190806 78190806 single base substitution C T upstream_gene_variant BRCA-EU 1 78191487 78191487 single base substitution A C intron_variant BRCA-EU 1 78191487 78191487 single base substitution A C upstream_gene_variant BRCA-EU 1 78194371 78194371 single base substitution T C synonymous_variant L248L 744A>G BRCA-EU 1 78194371 78194371 single base substitution T C synonymous_variant L279L 837A>G BRCA-EU 1 78194371 78194371 single base substitution T C upstream_gene_variant BRCA-EU 1 78194991 78194991 single base substitution G C intron_variant BRCA-EU 1 78194991 78194991 single base substitution G C upstream_gene_variant BRCA-EU 1 78195214 78195216 deletion of <=200bp GGC - downstream_gene_variant BRCA-EU 1 78195214 78195216 deletion of <=200bp GGC - intron_variant BRCA-EU 1 78195214 78195216 deletion of <=200bp GGC - upstream_gene_variant BRCA-EU 1 78197130 78197130 single base substitution A G downstream_gene_variant BRCA-EU 1 78197130 78197130 single base substitution A G intron_variant BRCA-EU 1 78197130 78197130 single base substitution A G upstream_gene_variant BRCA-EU 1 78197938 78197938 single base substitution T C downstream_gene_variant BRCA-EU 1 78197938 78197938 single base substitution T C intron_variant BRCA-EU 1 78197938 78197938 single base substitution T C upstream_gene_variant BRCA-EU 1 78198872 78198872 single base substitution A T downstream_gene_variant BRCA-EU 1 78198872 78198872 single base substitution A T intron_variant BRCA-EU 1 78198872 78198872 single base substitution A T upstream_gene_variant BRCA-EU 1 78198971 78198971 single base substitution C T downstream_gene_variant BRCA-EU 1 78198971 78198971 single base substitution C T intron_variant BRCA-EU 1 78198971 78198971 single base substitution C T upstream_gene_variant BRCA-EU 1 78201221 78201221 single base substitution T C downstream_gene_variant BRCA-EU 1 78201221 78201221 single base substitution T C intron_variant BRCA-EU 1 78201727 78201727 single base substitution C G downstream_gene_variant BRCA-EU 1 78201727 78201727 single base substitution C G intron_variant BRCA-EU 1 78201853 78201853 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 78201853 78201853 insertion of <=200bp - A intron_variant BRCA-EU 1 78201904 78201904 single base substitution T A downstream_gene_variant BRCA-EU 1 78201904 78201904 single base substitution T A intron_variant BRCA-EU 1 78202993 78202993 single base substitution T G downstream_gene_variant BRCA-EU 1 78202993 78202993 single base substitution T G intron_variant BRCA-EU 1 78203095 78203095 single base substitution G A downstream_gene_variant BRCA-EU 1 78203095 78203095 single base substitution G A intron_variant BRCA-EU 1 78203191 78203191 deletion of <=200bp C - downstream_gene_variant BRCA-EU 1 78203191 78203191 deletion of <=200bp C - intron_variant BRCA-EU 1 78203451 78203451 single base substitution G C downstream_gene_variant BRCA-EU 1 78203451 78203451 single base substitution G C intron_variant BRCA-EU 1 78206298 78206298 single base substitution T C intron_variant BRCA-EU 1 78206716 78206716 single base substitution T C intron_variant BRCA-EU 1 78207668 78207668 single base substitution T A intron_variant BRCA-EU 1 78207912 78207912 single base substitution C T intron_variant BRCA-EU 1 78209736 78209736 single base substitution G C intron_variant BRCA-EU 1 78211220 78211220 single base substitution G C 5_prime_UTR_variant BRCA-EU 1 78211220 78211220 single base substitution G C intron_variant BRCA-EU 1 78211220 78211220 single base substitution G C upstream_gene_variant BRCA-EU 1 78211891 78211891 single base substitution A T intron_variant BRCA-EU 1 78211891 78211891 single base substitution A T upstream_gene_variant BRCA-EU 1 78211922 78211922 single base substitution G C intron_variant BRCA-EU 1 78211922 78211922 single base substitution G C upstream_gene_variant BRCA-EU 1 78212258 78212258 deletion of <=200bp A - intron_variant BRCA-EU 1 78212258 78212258 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 78213627 78213627 single base substitution C G intron_variant BRCA-EU 1 78213627 78213627 single base substitution C G upstream_gene_variant BRCA-EU 1 78215400 78215400 single base substitution C G intron_variant BRCA-EU 1 78215400 78215400 single base substitution C G upstream_gene_variant BRCA-EU 1 78218574 78218574 single base substitution C T intron_variant BRCA-EU 1 78219298 78219298 single base substitution G A intron_variant BRCA-EU 1 78219604 78219604 single base substitution C T intron_variant BRCA-EU 1 78219605 78219605 single base substitution G A intron_variant BRCA-EU 1 78220079 78220079 insertion of <=200bp - A intron_variant BRCA-EU 1 78221381 78221381 insertion of <=200bp - A intron_variant BRCA-EU 1 78222550 78222550 single base substitution C A intron_variant BRCA-EU 1 78223175 78223175 single base substitution C T intron_variant BRCA-EU 1 78225325 78225325 single base substitution C T intron_variant BRCA-EU 1 78225325 78225325 single base substitution C T upstream_gene_variant BRCA-EU 1 78226143 78226143 single base substitution G A upstream_gene_variant BRCA-EU 1 78226192 78226192 single base substitution A C upstream_gene_variant BRCA-EU 1 78228115 78228115 single base substitution G C upstream_gene_variant BRCA-EU 1 78228995 78228995 deletion of <=200bp G - upstream_gene_variant BRCA-EU 1 78229331 78229331 single base substitution C A upstream_gene_variant BRCA-FR 1 78160513 78160513 single base substitution G C downstream_gene_variant BRCA-FR 1 78160902 78160902 single base substitution G A downstream_gene_variant BRCA-FR 1 78162716 78162716 single base substitution G A 3_prime_UTR_variant BRCA-FR 1 78162716 78162716 single base substitution G A downstream_gene_variant BRCA-FR 1 78181272 78181272 single base substitution C T downstream_gene_variant BRCA-FR 1 78181272 78181272 single base substitution C T intron_variant BRCA-FR 1 78181272 78181272 single base substitution C T upstream_gene_variant BRCA-FR 1 78191892 78191892 single base substitution C T intron_variant BRCA-FR 1 78191892 78191892 single base substitution C T upstream_gene_variant BRCA-FR 1 78194371 78194371 single base substitution T C synonymous_variant L248L 744A>G BRCA-FR 1 78194371 78194371 single base substitution T C synonymous_variant L279L 837A>G BRCA-FR 1 78194371 78194371 single base substitution T C upstream_gene_variant BRCA-FR 1 78194545 78194545 single base substitution A G intron_variant BRCA-FR 1 78194545 78194545 single base substitution A G upstream_gene_variant BRCA-FR 1 78203095 78203095 single base substitution G A downstream_gene_variant BRCA-FR 1 78203095 78203095 single base substitution G A intron_variant BRCA-FR 1 78203451 78203451 single base substitution G C downstream_gene_variant BRCA-FR 1 78203451 78203451 single base substitution G C intron_variant BRCA-FR 1 78209736 78209736 single base substitution G C intron_variant BRCA-FR 1 78210736 78210736 single base substitution G A intron_variant BRCA-FR 1 78210738 78210738 single base substitution A G intron_variant BRCA-FR 1 78212348 78212348 single base substitution T A intron_variant BRCA-FR 1 78212348 78212348 single base substitution T A upstream_gene_variant BRCA-UK 1 78167418 78167418 single base substitution G A intron_variant BRCA-UK 1 78167418 78167418 single base substitution G A upstream_gene_variant BRCA-US 1 78163138 78163138 single base substitution G C 3_prime_UTR_variant BRCA-US 1 78163138 78163138 single base substitution G C downstream_gene_variant BRCA-US 1 78163138 78163138 single base substitution G C missense_variant S867C 2600C>G BRCA-US 1 78163138 78163138 single base substitution G C missense_variant S898C 2693C>G BRCA-US 1 78181537 78181537 single base substitution G T downstream_gene_variant BRCA-US 1 78181537 78181537 single base substitution G T exon_variant BRCA-US 1 78181537 78181537 single base substitution G T synonymous_variant A280A 840C>A BRCA-US 1 78181537 78181537 single base substitution G T synonymous_variant A645A 1935C>A BRCA-US 1 78181537 78181537 single base substitution G T synonymous_variant A668A 2004C>A BRCA-US 1 78181537 78181537 single base substitution G T synonymous_variant A676A 2028C>A BRCA-US 1 78181537 78181537 single base substitution G T upstream_gene_variant BRCA-US 1 78187538 78187538 single base substitution G C exon_variant BRCA-US 1 78187538 78187538 single base substitution G C missense_variant F180L 540C>G BRCA-US 1 78187538 78187538 single base substitution G C missense_variant F545L 1635C>G BRCA-US 1 78187538 78187538 single base substitution G C missense_variant F568L 1704C>G BRCA-US 1 78187538 78187538 single base substitution G C missense_variant F576L 1728C>G BRCA-US 1 78187538 78187538 single base substitution G C upstream_gene_variant BRCA-US 1 78191440 78191440 single base substitution G C missense_variant I16M 48C>G BRCA-US 1 78191440 78191440 single base substitution G C missense_variant I381M 1143C>G BRCA-US 1 78191440 78191440 single base substitution G C missense_variant I412M 1236C>G BRCA-US 1 78191440 78191440 single base substitution G C upstream_gene_variant BRCA-US 1 78194177 78194177 single base substitution T A missense_variant N313I 938A>T BRCA-US 1 78194177 78194177 single base substitution T A missense_variant N344I 1031A>T BRCA-US 1 78194177 78194177 single base substitution T A upstream_gene_variant BRCA-US 1 78205076 78205076 single base substitution G T downstream_gene_variant BRCA-US 1 78205076 78205076 single base substitution G T exon_variant BRCA-US 1 78205076 78205076 single base substitution G T missense_variant N106K 318C>A BRCA-US 1 78205076 78205076 single base substitution G T missense_variant N75K 225C>A BTCA-JP 1 78167168 78167168 deletion of <=200bp A - exon_variant BTCA-JP 1 78167168 78167168 deletion of <=200bp A - intron_variant BTCA-JP 1 78181440 78181440 single base substitution C T downstream_gene_variant BTCA-JP 1 78181440 78181440 single base substitution C T exon_variant BTCA-JP 1 78181440 78181440 single base substitution C T missense_variant V313I 937G>A BTCA-JP 1 78181440 78181440 single base substitution C T missense_variant V678I 2032G>A BTCA-JP 1 78181440 78181440 single base substitution C T missense_variant V701I 2101G>A BTCA-JP 1 78181440 78181440 single base substitution C T missense_variant V709I 2125G>A BTCA-JP 1 78181440 78181440 single base substitution C T upstream_gene_variant BTCA-JP 1 78189097 78189097 single base substitution C T synonymous_variant Q436Q 1308G>A BTCA-JP 1 78189097 78189097 single base substitution C T synonymous_variant Q467Q 1401G>A BTCA-JP 1 78189097 78189097 single base substitution C T synonymous_variant Q71Q 213G>A BTCA-JP 1 78189097 78189097 single base substitution C T upstream_gene_variant BTCA-JP 1 78191157 78191157 single base substitution A G intron_variant BTCA-JP 1 78191157 78191157 single base substitution A G upstream_gene_variant CESC-US 1 78183553 78183553 single base substitution A C downstream_gene_variant CESC-US 1 78183553 78183553 single base substitution A C exon_variant CESC-US 1 78183553 78183553 single base substitution A C missense_variant S274R 822T>G CESC-US 1 78183553 78183553 single base substitution A C missense_variant S639R 1917T>G CESC-US 1 78183553 78183553 single base substitution A C missense_variant S662R 1986T>G CESC-US 1 78183553 78183553 single base substitution A C missense_variant S670R 2010T>G CESC-US 1 78183553 78183553 single base substitution A C splice_region_variant CESC-US 1 78183553 78183553 single base substitution A C upstream_gene_variant CESC-US 1 78189054 78189054 single base substitution T G missense_variant T451P 1351A>C CESC-US 1 78189054 78189054 single base substitution T G missense_variant T482P 1444A>C CESC-US 1 78189054 78189054 single base substitution T G missense_variant T86P 256A>C CESC-US 1 78189054 78189054 single base substitution T G upstream_gene_variant CESC-US 1 78194240 78194240 single base substitution G A missense_variant S292F 875C>T CESC-US 1 78194240 78194240 single base substitution G A missense_variant S323F 968C>T CESC-US 1 78194240 78194240 single base substitution G A upstream_gene_variant CLLE-ES 1 78170959 78170959 deletion of <=200bp A - intron_variant CLLE-ES 1 78170959 78170959 deletion of <=200bp A - upstream_gene_variant CLLE-ES 1 78180857 78180857 single base substitution C A downstream_gene_variant CLLE-ES 1 78180857 78180857 single base substitution C A intron_variant CLLE-ES 1 78180857 78180857 single base substitution C A upstream_gene_variant COAD-US 1 78178968 78178968 insertion of <=200bp - A downstream_gene_variant COAD-US 1 78178968 78178968 insertion of <=200bp - A exon_variant COAD-US 1 78178968 78178968 insertion of <=200bp - A splice_acceptor_variant COAD-US 1 78178969 78178969 deletion of <=200bp A - downstream_gene_variant COAD-US 1 78178969 78178969 deletion of <=200bp A - exon_variant COAD-US 1 78178969 78178969 deletion of <=200bp A - splice_region_variant COAD-US 1 78184290 78184290 single base substitution G A exon_variant COAD-US 1 78184290 78184290 single base substitution G A synonymous_variant N211N 633C>T COAD-US 1 78184290 78184290 single base substitution G A synonymous_variant N576N 1728C>T COAD-US 1 78184290 78184290 single base substitution G A synonymous_variant N599N 1797C>T COAD-US 1 78184290 78184290 single base substitution G A synonymous_variant N607N 1821C>T COAD-US 1 78184290 78184290 single base substitution G A upstream_gene_variant COAD-US 1 78189059 78189059 single base substitution T A missense_variant D449V 1346A>T COAD-US 1 78189059 78189059 single base substitution T A missense_variant D480V 1439A>T COAD-US 1 78189059 78189059 single base substitution T A missense_variant D84V 251A>T COAD-US 1 78189059 78189059 single base substitution T A upstream_gene_variant COAD-US 1 78191321 78191321 single base substitution G A missense_variant P421L 1262C>T COAD-US 1 78191321 78191321 single base substitution G A missense_variant P452L 1355C>T COAD-US 1 78191321 78191321 single base substitution G A missense_variant P56L 167C>T COAD-US 1 78191321 78191321 single base substitution G A upstream_gene_variant COAD-US 1 78201745 78201745 single base substitution G T downstream_gene_variant COAD-US 1 78201745 78201745 single base substitution G T synonymous_variant A150A 450C>A COAD-US 1 78201745 78201745 single base substitution G T synonymous_variant A181A 543C>A COCA-CN 1 78162938 78162938 single base substitution C T 3_prime_UTR_variant COCA-CN 1 78162938 78162938 single base substitution C T downstream_gene_variant COCA-CN 1 78163177 78163177 single base substitution G T downstream_gene_variant COCA-CN 1 78163177 78163177 single base substitution G T intron_variant COCA-CN 1 78183563 78183563 single base substitution C A downstream_gene_variant COCA-CN 1 78183563 78183563 single base substitution C A exon_variant COCA-CN 1 78183563 78183563 single base substitution C A missense_variant G271V 812G>T COCA-CN 1 78183563 78183563 single base substitution C A missense_variant G636V 1907G>T COCA-CN 1 78183563 78183563 single base substitution C A missense_variant G659V 1976G>T COCA-CN 1 78183563 78183563 single base substitution C A missense_variant G667V 2000G>T COCA-CN 1 78183563 78183563 single base substitution C A upstream_gene_variant COCA-CN 1 78187867 78187867 single base substitution G A exon_variant COCA-CN 1 78187867 78187867 single base substitution G A synonymous_variant L103L 309C>T COCA-CN 1 78187867 78187867 single base substitution G A synonymous_variant L468L 1404C>T COCA-CN 1 78187867 78187867 single base substitution G A synonymous_variant L499L 1497C>T COCA-CN 1 78187867 78187867 single base substitution G A upstream_gene_variant COCA-CN 1 78191372 78191372 single base substitution C T missense_variant R39H 116G>A COCA-CN 1 78191372 78191372 single base substitution C T missense_variant R404H 1211G>A COCA-CN 1 78191372 78191372 single base substitution C T missense_variant R435H 1304G>A COCA-CN 1 78191372 78191372 single base substitution C T upstream_gene_variant COCA-CN 1 78207035 78207035 single base substitution C A intron_variant EOPC-DE 1 78227931 78227931 single base substitution A G upstream_gene_variant ESAD-UK 1 78160177 78160177 single base substitution A C downstream_gene_variant ESAD-UK 1 78160736 78160736 single base substitution T A downstream_gene_variant ESAD-UK 1 78161275 78161275 single base substitution A T downstream_gene_variant ESAD-UK 1 78162068 78162068 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 78162068 78162068 single base substitution C T downstream_gene_variant ESAD-UK 1 78163168 78163168 single base substitution T A downstream_gene_variant ESAD-UK 1 78163168 78163168 single base substitution T A intron_variant ESAD-UK 1 78163980 78163980 single base substitution G A intron_variant ESAD-UK 1 78164972 78164972 single base substitution G A intron_variant ESAD-UK 1 78165672 78165672 single base substitution A G intron_variant ESAD-UK 1 78166570 78166570 single base substitution G A intron_variant ESAD-UK 1 78166663 78166663 single base substitution C T intron_variant ESAD-UK 1 78167034 78167034 deletion of <=200bp T - intron_variant ESAD-UK 1 78169076 78169076 single base substitution G A intron_variant ESAD-UK 1 78169076 78169076 single base substitution G A upstream_gene_variant ESAD-UK 1 78172011 78172011 single base substitution G C intron_variant ESAD-UK 1 78172011 78172011 single base substitution G C upstream_gene_variant ESAD-UK 1 78174548 78174548 single base substitution T C downstream_gene_variant ESAD-UK 1 78174548 78174548 single base substitution T C intron_variant ESAD-UK 1 78174674 78174674 single base substitution T G downstream_gene_variant ESAD-UK 1 78174674 78174674 single base substitution T G intron_variant ESAD-UK 1 78174960 78174960 single base substitution G A downstream_gene_variant ESAD-UK 1 78174960 78174960 single base substitution G A intron_variant ESAD-UK 1 78177176 78177176 single base substitution C T downstream_gene_variant ESAD-UK 1 78177176 78177176 single base substitution C T intron_variant ESAD-UK 1 78178123 78178123 single base substitution G C intron_variant ESAD-UK 1 78180219 78180219 single base substitution G C downstream_gene_variant ESAD-UK 1 78180219 78180219 single base substitution G C intron_variant ESAD-UK 1 78180219 78180219 single base substitution G C upstream_gene_variant ESAD-UK 1 78184517 78184517 single base substitution G A intron_variant ESAD-UK 1 78184517 78184517 single base substitution G A upstream_gene_variant ESAD-UK 1 78185673 78185673 single base substitution C G intron_variant ESAD-UK 1 78185673 78185673 single base substitution C G upstream_gene_variant ESAD-UK 1 78186258 78186258 single base substitution A C intron_variant ESAD-UK 1 78186258 78186258 single base substitution A C upstream_gene_variant ESAD-UK 1 78194718 78194718 single base substitution G T intron_variant ESAD-UK 1 78194718 78194718 single base substitution G T upstream_gene_variant ESAD-UK 1 78195476 78195476 insertion of <=200bp - A downstream_gene_variant ESAD-UK 1 78195476 78195476 insertion of <=200bp - A intron_variant ESAD-UK 1 78195476 78195476 insertion of <=200bp - A upstream_gene_variant ESAD-UK 1 78196066 78196066 single base substitution T C downstream_gene_variant ESAD-UK 1 78196066 78196066 single base substitution T C intron_variant ESAD-UK 1 78196066 78196066 single base substitution T C upstream_gene_variant ESAD-UK 1 78199165 78199165 single base substitution G T downstream_gene_variant ESAD-UK 1 78199165 78199165 single base substitution G T intron_variant ESAD-UK 1 78200273 78200273 single base substitution T C downstream_gene_variant ESAD-UK 1 78200273 78200273 single base substitution T C intron_variant ESAD-UK 1 78207853 78207853 single base substitution C A intron_variant ESAD-UK 1 78208175 78208175 single base substitution C T intron_variant ESAD-UK 1 78208648 78208648 single base substitution A G intron_variant ESAD-UK 1 78212694 78212694 single base substitution C T intron_variant ESAD-UK 1 78212694 78212694 single base substitution C T upstream_gene_variant ESAD-UK 1 78212911 78212911 single base substitution T C intron_variant ESAD-UK 1 78212911 78212911 single base substitution T C upstream_gene_variant ESAD-UK 1 78218261 78218261 single base substitution A G intron_variant ESAD-UK 1 78220896 78220896 single base substitution T G intron_variant ESAD-UK 1 78223081 78223081 single base substitution A G intron_variant ESAD-UK 1 78224654 78224654 single base substitution G C intron_variant ESAD-UK 1 78226630 78226630 single base substitution G A upstream_gene_variant ESAD-UK 1 78227954 78227954 single base substitution G T upstream_gene_variant ESAD-UK 1 78227961 78227961 single base substitution C G upstream_gene_variant ESAD-UK 1 78229074 78229074 single base substitution G T upstream_gene_variant ESAD-UK 1 78229858 78229858 insertion of <=200bp - A upstream_gene_variant KIRC-US 1 78167136 78167136 deletion of <=200bp T - exon_variant KIRC-US 1 78167136 78167136 deletion of <=200bp T - frameshift_variant K809 KIRC-US 1 78167136 78167136 deletion of <=200bp T - frameshift_variant K840 KIRC-US 1 78167136 78167136 deletion of <=200bp T - intron_variant KIRC-US 1 78183671 78183671 single base substitution G C downstream_gene_variant KIRC-US 1 78183671 78183671 single base substitution G C exon_variant KIRC-US 1 78183671 78183671 single base substitution G C missense_variant T235S 704C>G KIRC-US 1 78183671 78183671 single base substitution G C missense_variant T600S 1799C>G KIRC-US 1 78183671 78183671 single base substitution G C missense_variant T623S 1868C>G KIRC-US 1 78183671 78183671 single base substitution G C missense_variant T631S 1892C>G KIRC-US 1 78183671 78183671 single base substitution G C upstream_gene_variant KIRC-US 1 78195568 78195568 single base substitution T C downstream_gene_variant KIRC-US 1 78195568 78195568 single base substitution T C missense_variant T232A 694A>G KIRC-US 1 78195568 78195568 single base substitution T C missense_variant T263A 787A>G KIRC-US 1 78195568 78195568 single base substitution T C upstream_gene_variant KIRP-US 1 78163088 78163088 single base substitution C A 3_prime_UTR_variant KIRP-US 1 78163088 78163088 single base substitution C A downstream_gene_variant KIRP-US 1 78163088 78163088 single base substitution C A missense_variant V884F 2650G>T KIRP-US 1 78163088 78163088 single base substitution C A missense_variant V915F 2743G>T KIRP-US 1 78194350 78194350 single base substitution T C synonymous_variant E255E 765A>G KIRP-US 1 78194350 78194350 single base substitution T C synonymous_variant E286E 858A>G KIRP-US 1 78194350 78194350 single base substitution T C upstream_gene_variant LAML-KR 1 78209837 78209837 single base substitution T A intron_variant LICA-FR 1 78165911 78165911 single base substitution G C intron_variant LICA-FR 1 78171527 78171527 single base substitution C T intron_variant LICA-FR 1 78171527 78171527 single base substitution C T upstream_gene_variant LICA-FR 1 78184281 78184281 single base substitution C T splice_region_variant LICA-FR 1 78184281 78184281 single base substitution C T upstream_gene_variant LICA-FR 1 78187984 78187984 single base substitution A T exon_variant LICA-FR 1 78187984 78187984 single base substitution A T intron_variant LICA-FR 1 78187984 78187984 single base substitution A T upstream_gene_variant LICA-FR 1 78187999 78187999 single base substitution C A exon_variant LICA-FR 1 78187999 78187999 single base substitution C A intron_variant LICA-FR 1 78187999 78187999 single base substitution C A upstream_gene_variant LICA-FR 1 78192164 78192164 single base substitution T C intron_variant LICA-FR 1 78192164 78192164 single base substitution T C upstream_gene_variant LICA-FR 1 78192172 78192172 single base substitution A T intron_variant LICA-FR 1 78192172 78192172 single base substitution A T upstream_gene_variant LICA-FR 1 78205087 78205087 single base substitution G C exon_variant LICA-FR 1 78205087 78205087 single base substitution G C missense_variant L103V 307C>G LICA-FR 1 78205087 78205087 single base substitution G C missense_variant L72V 214C>G LICA-FR 1 78207095 78207095 single base substitution T G exon_variant LICA-FR 1 78207095 78207095 single base substitution T G missense_variant K34T 101A>C LICA-FR 1 78207095 78207095 single base substitution T G missense_variant K65T 194A>C LICA-FR 1 78211353 78211353 single base substitution T C intron_variant LICA-FR 1 78211353 78211353 single base substitution T C upstream_gene_variant LICA-FR 1 78211387 78211387 single base substitution A C intron_variant LICA-FR 1 78211387 78211387 single base substitution A C upstream_gene_variant LICA-FR 1 78211550 78211550 single base substitution G A intron_variant LICA-FR 1 78211550 78211550 single base substitution G A upstream_gene_variant LICA-FR 1 78211607 78211607 single base substitution G A intron_variant LICA-FR 1 78211607 78211607 single base substitution G A upstream_gene_variant LIHC-US 1 78183652 78183652 single base substitution T C downstream_gene_variant LIHC-US 1 78183652 78183652 single base substitution T C exon_variant LIHC-US 1 78183652 78183652 single base substitution T C synonymous_variant L241L 723A>G LIHC-US 1 78183652 78183652 single base substitution T C synonymous_variant L606L 1818A>G LIHC-US 1 78183652 78183652 single base substitution T C synonymous_variant L629L 1887A>G LIHC-US 1 78183652 78183652 single base substitution T C synonymous_variant L637L 1911A>G LIHC-US 1 78183652 78183652 single base substitution T C upstream_gene_variant LINC-JP 1 78160719 78160719 single base substitution T A downstream_gene_variant LINC-JP 1 78163307 78163307 single base substitution T C exon_variant LINC-JP 1 78163307 78163307 single base substitution T C intron_variant LINC-JP 1 78163768 78163768 single base substitution T G intron_variant LINC-JP 1 78163770 78163770 single base substitution A G intron_variant LINC-JP 1 78181417 78181417 single base substitution T C downstream_gene_variant LINC-JP 1 78181417 78181417 single base substitution T C intron_variant LINC-JP 1 78181417 78181417 single base substitution T C upstream_gene_variant LINC-JP 1 78181519 78181519 single base substitution T G downstream_gene_variant LINC-JP 1 78181519 78181519 single base substitution T G exon_variant LINC-JP 1 78181519 78181519 single base substitution T G synonymous_variant L286L 858A>C LINC-JP 1 78181519 78181519 single base substitution T G synonymous_variant L651L 1953A>C LINC-JP 1 78181519 78181519 single base substitution T G synonymous_variant L674L 2022A>C LINC-JP 1 78181519 78181519 single base substitution T G synonymous_variant L682L 2046A>C LINC-JP 1 78181519 78181519 single base substitution T G upstream_gene_variant LINC-JP 1 78185850 78185850 single base substitution G A intron_variant LINC-JP 1 78185850 78185850 single base substitution G A upstream_gene_variant LINC-JP 1 78187738 78187738 single base substitution C A exon_variant LINC-JP 1 78187738 78187738 single base substitution C A missense_variant W146C 438G>T LINC-JP 1 78187738 78187738 single base substitution C A missense_variant W511C 1533G>T LINC-JP 1 78187738 78187738 single base substitution C A missense_variant W542C 1626G>T LINC-JP 1 78187738 78187738 single base substitution C A upstream_gene_variant LINC-JP 1 78188446 78188446 single base substitution C G intron_variant LINC-JP 1 78188446 78188446 single base substitution C G upstream_gene_variant LINC-JP 1 78191868 78191868 single base substitution C T intron_variant LINC-JP 1 78191868 78191868 single base substitution C T upstream_gene_variant LINC-JP 1 78194261 78194261 single base substitution A G missense_variant V285A 854T>C LINC-JP 1 78194261 78194261 single base substitution A G missense_variant V316A 947T>C LINC-JP 1 78194261 78194261 single base substitution A G upstream_gene_variant LINC-JP 1 78199936 78199936 single base substitution C T downstream_gene_variant LINC-JP 1 78199936 78199936 single base substitution C T intron_variant LINC-JP 1 78201614 78201614 single base substitution T C downstream_gene_variant LINC-JP 1 78201614 78201614 single base substitution T C intron_variant LINC-JP 1 78214518 78214518 single base substitution T C intron_variant LINC-JP 1 78214518 78214518 single base substitution T C upstream_gene_variant LINC-JP 1 78214619 78214619 single base substitution C A intron_variant LINC-JP 1 78214619 78214619 single base substitution C A upstream_gene_variant LINC-JP 1 78219353 78219353 single base substitution G A intron_variant LIRI-JP 1 78157059 78157059 single base substitution G C downstream_gene_variant LIRI-JP 1 78157141 78157141 single base substitution C T downstream_gene_variant LIRI-JP 1 78158228 78158228 single base substitution A T downstream_gene_variant LIRI-JP 1 78160219 78160219 single base substitution C T downstream_gene_variant LIRI-JP 1 78162555 78162555 single base substitution G T 3_prime_UTR_variant LIRI-JP 1 78162555 78162555 single base substitution G T downstream_gene_variant LIRI-JP 1 78163361 78163361 deletion of <=200bp T - exon_variant LIRI-JP 1 78163361 78163361 deletion of <=200bp T - intron_variant LIRI-JP 1 78163403 78163403 single base substitution G A exon_variant LIRI-JP 1 78163403 78163403 single base substitution G A intron_variant LIRI-JP 1 78165882 78165882 single base substitution C T intron_variant LIRI-JP 1 78166059 78166059 single base substitution G A intron_variant LIRI-JP 1 78167142 78167142 single base substitution G A exon_variant LIRI-JP 1 78167142 78167142 single base substitution G A intron_variant LIRI-JP 1 78167142 78167142 single base substitution G A synonymous_variant F807F 2421C>T LIRI-JP 1 78167142 78167142 single base substitution G A synonymous_variant F838F 2514C>T LIRI-JP 1 78167386 78167386 single base substitution C T intron_variant LIRI-JP 1 78167386 78167386 single base substitution C T upstream_gene_variant LIRI-JP 1 78171544 78171544 single base substitution T C intron_variant LIRI-JP 1 78171544 78171544 single base substitution T C upstream_gene_variant LIRI-JP 1 78173708 78173708 single base substitution G A downstream_gene_variant LIRI-JP 1 78173708 78173708 single base substitution G A intron_variant LIRI-JP 1 78173902 78173902 single base substitution A G downstream_gene_variant LIRI-JP 1 78173902 78173902 single base substitution A G intron_variant LIRI-JP 1 78174646 78174647 deletion of <=200bp AC - downstream_gene_variant LIRI-JP 1 78174646 78174647 deletion of <=200bp AC - intron_variant LIRI-JP 1 78176077 78176077 single base substitution T C downstream_gene_variant LIRI-JP 1 78176077 78176077 single base substitution T C intron_variant LIRI-JP 1 78176355 78176355 single base substitution C T downstream_gene_variant LIRI-JP 1 78176355 78176355 single base substitution C T intron_variant LIRI-JP 1 78177138 78177138 single base substitution G C downstream_gene_variant LIRI-JP 1 78177138 78177138 single base substitution G C intron_variant LIRI-JP 1 78178891 78178891 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 78178891 78178891 single base substitution T C downstream_gene_variant LIRI-JP 1 78178891 78178891 single base substitution T C exon_variant LIRI-JP 1 78178891 78178891 single base substitution T C missense_variant Y399C 1196A>G LIRI-JP 1 78178891 78178891 single base substitution T C missense_variant Y764C 2291A>G LIRI-JP 1 78178891 78178891 single base substitution T C missense_variant Y787C 2360A>G LIRI-JP 1 78178891 78178891 single base substitution T C missense_variant Y795C 2384A>G LIRI-JP 1 78183284 78183299 deletion of <=200bp TTAATAATTAGCAGTA - downstream_gene_variant LIRI-JP 1 78183284 78183299 deletion of <=200bp TTAATAATTAGCAGTA - exon_variant LIRI-JP 1 78183284 78183299 deletion of <=200bp TTAATAATTAGCAGTA - intron_variant LIRI-JP 1 78183284 78183299 deletion of <=200bp TTAATAATTAGCAGTA - upstream_gene_variant LIRI-JP 1 78184820 78184820 single base substitution C A intron_variant LIRI-JP 1 78184820 78184820 single base substitution C A upstream_gene_variant LIRI-JP 1 78186788 78186788 single base substitution A G intron_variant LIRI-JP 1 78186788 78186788 single base substitution A G upstream_gene_variant LIRI-JP 1 78187298 78187298 single base substitution T C exon_variant LIRI-JP 1 78187298 78187298 single base substitution T C intron_variant LIRI-JP 1 78187298 78187298 single base substitution T C upstream_gene_variant LIRI-JP 1 78188208 78188208 single base substitution C T intron_variant LIRI-JP 1 78188208 78188208 single base substitution C T upstream_gene_variant LIRI-JP 1 78190597 78190597 single base substitution T C intron_variant LIRI-JP 1 78190597 78190597 single base substitution T C upstream_gene_variant LIRI-JP 1 78190617 78190617 single base substitution C T intron_variant LIRI-JP 1 78190617 78190617 single base substitution C T upstream_gene_variant LIRI-JP 1 78192055 78192055 single base substitution G A intron_variant LIRI-JP 1 78192055 78192055 single base substitution G A upstream_gene_variant LIRI-JP 1 78193642 78193642 single base substitution G A intron_variant LIRI-JP 1 78195337 78195337 single base substitution T C downstream_gene_variant LIRI-JP 1 78195337 78195337 single base substitution T C intron_variant LIRI-JP 1 78195337 78195337 single base substitution T C upstream_gene_variant LIRI-JP 1 78196580 78196580 single base substitution T G downstream_gene_variant LIRI-JP 1 78196580 78196580 single base substitution T G intron_variant LIRI-JP 1 78196580 78196580 single base substitution T G upstream_gene_variant LIRI-JP 1 78198227 78198227 single base substitution T C downstream_gene_variant LIRI-JP 1 78198227 78198227 single base substitution T C intron_variant LIRI-JP 1 78198227 78198227 single base substitution T C upstream_gene_variant LIRI-JP 1 78202484 78202484 single base substitution G A downstream_gene_variant LIRI-JP 1 78202484 78202484 single base substitution G A intron_variant LIRI-JP 1 78206325 78206325 single base substitution C A intron_variant LIRI-JP 1 78207268 78207268 single base substitution T C intron_variant LIRI-JP 1 78208649 78208649 single base substitution C G intron_variant LIRI-JP 1 78210731 78210731 single base substitution G A intron_variant LIRI-JP 1 78211862 78211862 single base substitution C T intron_variant LIRI-JP 1 78211862 78211862 single base substitution C T upstream_gene_variant LIRI-JP 1 78212514 78212514 single base substitution G A intron_variant LIRI-JP 1 78212514 78212514 single base substitution G A upstream_gene_variant LIRI-JP 1 78215404 78215404 single base substitution G A intron_variant LIRI-JP 1 78215404 78215404 single base substitution G A upstream_gene_variant LIRI-JP 1 78215972 78215972 single base substitution C A intron_variant LIRI-JP 1 78215972 78215972 single base substitution C A upstream_gene_variant LIRI-JP 1 78216068 78216068 single base substitution A T intron_variant LIRI-JP 1 78216068 78216068 single base substitution A T upstream_gene_variant LIRI-JP 1 78217155 78217155 single base substitution C T intron_variant LIRI-JP 1 78217673 78217673 single base substitution C T intron_variant LIRI-JP 1 78220033 78220033 single base substitution T C intron_variant LIRI-JP 1 78223064 78223064 single base substitution T C intron_variant LIRI-JP 1 78226029 78226029 single base substitution C T upstream_gene_variant LUSC-KR 1 78157279 78157279 single base substitution C G downstream_gene_variant LUSC-KR 1 78158678 78158678 single base substitution G A downstream_gene_variant LUSC-KR 1 78169373 78169373 single base substitution C A intron_variant LUSC-KR 1 78169373 78169373 single base substitution C A upstream_gene_variant LUSC-KR 1 78174008 78174008 single base substitution C G downstream_gene_variant LUSC-KR 1 78174008 78174008 single base substitution C G intron_variant LUSC-KR 1 78175101 78175101 single base substitution G A downstream_gene_variant LUSC-KR 1 78175101 78175101 single base substitution G A intron_variant LUSC-KR 1 78179263 78179263 single base substitution G T downstream_gene_variant LUSC-KR 1 78179263 78179263 single base substitution G T intron_variant LUSC-KR 1 78179263 78179263 single base substitution G T upstream_gene_variant LUSC-KR 1 78183237 78183237 single base substitution A G downstream_gene_variant LUSC-KR 1 78183237 78183237 single base substitution A G exon_variant LUSC-KR 1 78183237 78183237 single base substitution A G intron_variant LUSC-KR 1 78183237 78183237 single base substitution A G upstream_gene_variant LUSC-KR 1 78184484 78184484 single base substitution C A intron_variant LUSC-KR 1 78184484 78184484 single base substitution C A upstream_gene_variant LUSC-KR 1 78184611 78184611 single base substitution C A intron_variant LUSC-KR 1 78184611 78184611 single base substitution C A upstream_gene_variant LUSC-KR 1 78195122 78195122 single base substitution G A downstream_gene_variant LUSC-KR 1 78195122 78195122 single base substitution G A intron_variant LUSC-KR 1 78195122 78195122 single base substitution G A upstream_gene_variant LUSC-KR 1 78197399 78197399 single base substitution C A downstream_gene_variant LUSC-KR 1 78197399 78197399 single base substitution C A intron_variant LUSC-KR 1 78197399 78197399 single base substitution C A upstream_gene_variant LUSC-KR 1 78204464 78204464 single base substitution C A downstream_gene_variant LUSC-KR 1 78204464 78204464 single base substitution C A intron_variant LUSC-KR 1 78209714 78209714 single base substitution C G intron_variant LUSC-KR 1 78210088 78210088 single base substitution G A intron_variant LUSC-KR 1 78212827 78212827 single base substitution G A intron_variant LUSC-KR 1 78212827 78212827 single base substitution G A upstream_gene_variant LUSC-KR 1 78218254 78218254 single base substitution T G intron_variant LUSC-KR 1 78221667 78221667 single base substitution T A intron_variant LUSC-KR 1 78228238 78228238 single base substitution C T upstream_gene_variant LUSC-US 1 78163019 78163019 single base substitution C T 3_prime_UTR_variant LUSC-US 1 78163019 78163019 single base substitution C T downstream_gene_variant LUSC-US 1 78163019 78163019 single base substitution C T missense_variant E907K 2719G>A LUSC-US 1 78163019 78163019 single base substitution C T missense_variant E938K 2812G>A LUSC-US 1 78177450 78177450 single base substitution T C 3_prime_UTR_variant LUSC-US 1 78177450 78177450 single base substitution T C downstream_gene_variant LUSC-US 1 78177450 78177450 single base substitution T C exon_variant LUSC-US 1 78177450 78177450 single base substitution T C synonymous_variant E431E 1293A>G LUSC-US 1 78177450 78177450 single base substitution T C synonymous_variant E796E 2388A>G LUSC-US 1 78177450 78177450 single base substitution T C synonymous_variant E819E 2457A>G LUSC-US 1 78177450 78177450 single base substitution T C synonymous_variant E827E 2481A>G LUSC-US 1 78183552 78183552 single base substitution T C downstream_gene_variant LUSC-US 1 78183552 78183552 single base substitution T C exon_variant LUSC-US 1 78183552 78183552 single base substitution T C missense_variant S275G 823A>G LUSC-US 1 78183552 78183552 single base substitution T C missense_variant S640G 1918A>G LUSC-US 1 78183552 78183552 single base substitution T C missense_variant S663G 1987A>G LUSC-US 1 78183552 78183552 single base substitution T C missense_variant S671G 2011A>G LUSC-US 1 78183552 78183552 single base substitution T C splice_region_variant LUSC-US 1 78183552 78183552 single base substitution T C upstream_gene_variant LUSC-US 1 78184286 78184286 single base substitution G A exon_variant LUSC-US 1 78184286 78184286 single base substitution G A missense_variant P213S 637C>T LUSC-US 1 78184286 78184286 single base substitution G A missense_variant P578S 1732C>T LUSC-US 1 78184286 78184286 single base substitution G A missense_variant P601S 1801C>T LUSC-US 1 78184286 78184286 single base substitution G A missense_variant P609S 1825C>T LUSC-US 1 78184286 78184286 single base substitution G A upstream_gene_variant LUSC-US 1 78194184 78194184 single base substitution C G missense_variant D311H 931G>C LUSC-US 1 78194184 78194184 single base substitution C G missense_variant D342H 1024G>C LUSC-US 1 78194184 78194184 single base substitution C G upstream_gene_variant LUSC-US 1 78207351 78207351 single base substitution A C exon_variant LUSC-US 1 78207351 78207351 single base substitution A C missense_variant L11W 32T>G LUSC-US 1 78207351 78207351 single base substitution A C missense_variant L42W 125T>G LUSC-US 1 78207376 78207376 single base substitution C T exon_variant LUSC-US 1 78207376 78207376 single base substitution C T missense_variant A34T 100G>A LUSC-US 1 78207376 78207376 single base substitution C T missense_variant A3T 7G>A MALY-DE 1 78158156 78158156 single base substitution G C downstream_gene_variant MALY-DE 1 78158185 78158185 single base substitution T C downstream_gene_variant MALY-DE 1 78166359 78166359 single base substitution C T intron_variant MALY-DE 1 78167102 78167102 single base substitution T C exon_variant MALY-DE 1 78167102 78167102 single base substitution T C intron_variant MALY-DE 1 78167102 78167102 single base substitution T C missense_variant M821V 2461A>G MALY-DE 1 78167102 78167102 single base substitution T C missense_variant M852V 2554A>G MALY-DE 1 78177675 78177675 single base substitution A G intron_variant MALY-DE 1 78177921 78177921 single base substitution A G intron_variant MALY-DE 1 78179952 78179952 single base substitution T C downstream_gene_variant MALY-DE 1 78179952 78179952 single base substitution T C intron_variant MALY-DE 1 78179952 78179952 single base substitution T C upstream_gene_variant MALY-DE 1 78207995 78207995 single base substitution A G intron_variant MALY-DE 1 78208601 78208604 deletion of <=200bp TTAT - intron_variant MALY-DE 1 78210321 78210321 single base substitution G A intron_variant MALY-DE 1 78229563 78229563 single base substitution C A upstream_gene_variant MALY-DE 1 78230476 78230476 single base substitution T A upstream_gene_variant MELA-AU 1 78156712 78156712 single base substitution A T downstream_gene_variant MELA-AU 1 78156719 78156719 single base substitution G A downstream_gene_variant MELA-AU 1 78156745 78156745 single base substitution A G downstream_gene_variant MELA-AU 1 78157113 78157113 single base substitution G A downstream_gene_variant MELA-AU 1 78157544 78157544 single base substitution A C downstream_gene_variant MELA-AU 1 78158038 78158038 single base substitution G A downstream_gene_variant MELA-AU 1 78158651 78158651 single base substitution G A downstream_gene_variant MELA-AU 1 78158936 78158936 single base substitution G A downstream_gene_variant MELA-AU 1 78159560 78159560 single base substitution G A downstream_gene_variant MELA-AU 1 78159654 78159654 single base substitution C A downstream_gene_variant MELA-AU 1 78160210 78160210 single base substitution G A downstream_gene_variant MELA-AU 1 78160370 78160370 single base substitution G A downstream_gene_variant MELA-AU 1 78160449 78160449 single base substitution G A downstream_gene_variant MELA-AU 1 78161569 78161569 single base substitution G A downstream_gene_variant MELA-AU 1 78162527 78162527 single base substitution G A 3_prime_UTR_variant MELA-AU 1 78162527 78162527 single base substitution G A downstream_gene_variant MELA-AU 1 78163195 78163195 single base substitution C T downstream_gene_variant MELA-AU 1 78163195 78163195 single base substitution C T intron_variant MELA-AU 1 78164082 78164083 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 78164286 78164286 single base substitution T C intron_variant MELA-AU 1 78164401 78164401 single base substitution G A intron_variant MELA-AU 1 78164766 78164766 single base substitution A C intron_variant MELA-AU 1 78165025 78165025 single base substitution G A intron_variant MELA-AU 1 78165145 78165145 single base substitution T C intron_variant MELA-AU 1 78165221 78165221 single base substitution G T intron_variant MELA-AU 1 78165280 78165280 single base substitution G A intron_variant MELA-AU 1 78165393 78165393 single base substitution A G intron_variant MELA-AU 1 78165666 78165666 single base substitution G A intron_variant MELA-AU 1 78165760 78165760 single base substitution G A intron_variant MELA-AU 1 78166934 78166934 single base substitution G A intron_variant MELA-AU 1 78167337 78167337 single base substitution A T intron_variant MELA-AU 1 78167337 78167337 single base substitution A T upstream_gene_variant MELA-AU 1 78168058 78168058 single base substitution T C intron_variant MELA-AU 1 78168058 78168058 single base substitution T C upstream_gene_variant MELA-AU 1 78168234 78168234 single base substitution A G intron_variant MELA-AU 1 78168234 78168234 single base substitution A G upstream_gene_variant MELA-AU 1 78168407 78168407 single base substitution G A intron_variant MELA-AU 1 78168407 78168407 single base substitution G A upstream_gene_variant MELA-AU 1 78168826 78168826 single base substitution C T intron_variant MELA-AU 1 78168826 78168826 single base substitution C T upstream_gene_variant MELA-AU 1 78169894 78169894 single base substitution G A intron_variant MELA-AU 1 78169894 78169894 single base substitution G A upstream_gene_variant MELA-AU 1 78170669 78170669 single base substitution G A intron_variant MELA-AU 1 78170669 78170669 single base substitution G A upstream_gene_variant MELA-AU 1 78170815 78170815 single base substitution G A intron_variant MELA-AU 1 78170815 78170815 single base substitution G A upstream_gene_variant MELA-AU 1 78170998 78170998 single base substitution G A intron_variant MELA-AU 1 78170998 78170998 single base substitution G A upstream_gene_variant MELA-AU 1 78171174 78171174 single base substitution C T intron_variant MELA-AU 1 78171174 78171174 single base substitution C T upstream_gene_variant MELA-AU 1 78172316 78172317 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 78172316 78172317 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 78172316 78172317 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 78172484 78172484 single base substitution G A downstream_gene_variant MELA-AU 1 78172484 78172484 single base substitution G A intron_variant MELA-AU 1 78172500 78172500 single base substitution G A downstream_gene_variant MELA-AU 1 78172500 78172500 single base substitution G A intron_variant MELA-AU 1 78172887 78172888 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 78172887 78172888 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 78173113 78173113 single base substitution G A downstream_gene_variant MELA-AU 1 78173113 78173113 single base substitution G A intron_variant MELA-AU 1 78173320 78173320 single base substitution G A downstream_gene_variant MELA-AU 1 78173320 78173320 single base substitution G A intron_variant MELA-AU 1 78173802 78173802 single base substitution G C downstream_gene_variant MELA-AU 1 78173802 78173802 single base substitution G C intron_variant MELA-AU 1 78173997 78173997 single base substitution G A downstream_gene_variant MELA-AU 1 78173997 78173997 single base substitution G A intron_variant MELA-AU 1 78175468 78175468 single base substitution C T downstream_gene_variant MELA-AU 1 78175468 78175468 single base substitution C T intron_variant MELA-AU 1 78176111 78176111 single base substitution T A downstream_gene_variant MELA-AU 1 78176111 78176111 single base substitution T A intron_variant MELA-AU 1 78176178 78176178 single base substitution T C downstream_gene_variant MELA-AU 1 78176178 78176178 single base substitution T C intron_variant MELA-AU 1 78176358 78176358 single base substitution G A downstream_gene_variant MELA-AU 1 78176358 78176358 single base substitution G A intron_variant MELA-AU 1 78176737 78176737 single base substitution G A downstream_gene_variant MELA-AU 1 78176737 78176737 single base substitution G A intron_variant MELA-AU 1 78178187 78178187 single base substitution G A intron_variant MELA-AU 1 78178189 78178189 single base substitution C A intron_variant MELA-AU 1 78178753 78178753 single base substitution C A downstream_gene_variant MELA-AU 1 78178753 78178753 single base substitution C A intron_variant MELA-AU 1 78179866 78179866 single base substitution C T downstream_gene_variant MELA-AU 1 78179866 78179866 single base substitution C T intron_variant MELA-AU 1 78179866 78179866 single base substitution C T upstream_gene_variant MELA-AU 1 78181603 78181603 single base substitution G A downstream_gene_variant MELA-AU 1 78181603 78181603 single base substitution G A intron_variant MELA-AU 1 78181603 78181603 single base substitution G A upstream_gene_variant MELA-AU 1 78182524 78182524 single base substitution C T downstream_gene_variant MELA-AU 1 78182524 78182524 single base substitution C T intron_variant MELA-AU 1 78182524 78182524 single base substitution C T upstream_gene_variant MELA-AU 1 78182742 78182742 single base substitution G A downstream_gene_variant MELA-AU 1 78182742 78182742 single base substitution G A intron_variant MELA-AU 1 78182742 78182742 single base substitution G A upstream_gene_variant MELA-AU 1 78183733 78183733 single base substitution C T splice_acceptor_variant MELA-AU 1 78183733 78183733 single base substitution C T upstream_gene_variant MELA-AU 1 78184198 78184198 single base substitution G A intron_variant MELA-AU 1 78184198 78184198 single base substitution G A upstream_gene_variant MELA-AU 1 78184539 78184539 single base substitution G A intron_variant MELA-AU 1 78184539 78184539 single base substitution G A upstream_gene_variant MELA-AU 1 78184678 78184678 single base substitution A G intron_variant MELA-AU 1 78184678 78184678 single base substitution A G upstream_gene_variant MELA-AU 1 78185825 78185825 single base substitution G A intron_variant MELA-AU 1 78185825 78185825 single base substitution G A upstream_gene_variant MELA-AU 1 78186620 78186620 single base substitution A C intron_variant MELA-AU 1 78186620 78186620 single base substitution A C upstream_gene_variant MELA-AU 1 78187613 78187613 single base substitution G A intron_variant MELA-AU 1 78187613 78187613 single base substitution G A splice_region_variant MELA-AU 1 78187613 78187613 single base substitution G A upstream_gene_variant MELA-AU 1 78187895 78187895 single base substitution G A exon_variant MELA-AU 1 78187895 78187895 single base substitution G A intron_variant MELA-AU 1 78187895 78187895 single base substitution G A upstream_gene_variant MELA-AU 1 78188269 78188269 single base substitution G A intron_variant MELA-AU 1 78188269 78188269 single base substitution G A upstream_gene_variant MELA-AU 1 78188531 78188531 single base substitution G A intron_variant MELA-AU 1 78188531 78188531 single base substitution G A upstream_gene_variant MELA-AU 1 78188788 78188792 deletion of <=200bp ATAAT - intron_variant MELA-AU 1 78188788 78188792 deletion of <=200bp ATAAT - upstream_gene_variant MELA-AU 1 78189709 78189709 single base substitution G A intron_variant MELA-AU 1 78189709 78189709 single base substitution G A upstream_gene_variant MELA-AU 1 78190897 78190897 single base substitution A C intron_variant MELA-AU 1 78190897 78190897 single base substitution A C upstream_gene_variant MELA-AU 1 78191165 78191165 single base substitution T G intron_variant MELA-AU 1 78191165 78191165 single base substitution T G upstream_gene_variant MELA-AU 1 78191632 78191632 deletion of <=200bp T - intron_variant MELA-AU 1 78191632 78191632 deletion of <=200bp T - upstream_gene_variant MELA-AU 1 78191832 78191832 single base substitution A C intron_variant MELA-AU 1 78191832 78191832 single base substitution A C upstream_gene_variant MELA-AU 1 78191919 78191919 single base substitution A G intron_variant MELA-AU 1 78191919 78191919 single base substitution A G upstream_gene_variant MELA-AU 1 78192811 78192811 single base substitution G A intron_variant MELA-AU 1 78192811 78192811 single base substitution G A upstream_gene_variant MELA-AU 1 78193068 78193069 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 78193068 78193069 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 78193308 78193308 single base substitution G A intron_variant MELA-AU 1 78194426 78194426 single base substitution A C intron_variant MELA-AU 1 78194426 78194426 single base substitution A C upstream_gene_variant MELA-AU 1 78194670 78194670 single base substitution G A intron_variant MELA-AU 1 78194670 78194670 single base substitution G A upstream_gene_variant MELA-AU 1 78194844 78194844 single base substitution G A intron_variant MELA-AU 1 78194844 78194844 single base substitution G A upstream_gene_variant MELA-AU 1 78195445 78195445 single base substitution G A downstream_gene_variant MELA-AU 1 78195445 78195445 single base substitution G A intron_variant MELA-AU 1 78195445 78195445 single base substitution G A upstream_gene_variant MELA-AU 1 78195527 78195527 single base substitution G A downstream_gene_variant MELA-AU 1 78195527 78195527 single base substitution G A intron_variant MELA-AU 1 78195527 78195527 single base substitution G A upstream_gene_variant MELA-AU 1 78195562 78195562 single base substitution G A downstream_gene_variant MELA-AU 1 78195562 78195562 single base substitution G A missense_variant R234W 700C>T MELA-AU 1 78195562 78195562 single base substitution G A missense_variant R265W 793C>T MELA-AU 1 78195562 78195562 single base substitution G A upstream_gene_variant MELA-AU 1 78196448 78196448 single base substitution G A downstream_gene_variant MELA-AU 1 78196448 78196448 single base substitution G A intron_variant MELA-AU 1 78196448 78196448 single base substitution G A upstream_gene_variant MELA-AU 1 78197150 78197150 single base substitution C T downstream_gene_variant MELA-AU 1 78197150 78197150 single base substitution C T intron_variant MELA-AU 1 78197150 78197150 single base substitution C T upstream_gene_variant MELA-AU 1 78198404 78198404 single base substitution G A downstream_gene_variant MELA-AU 1 78198404 78198404 single base substitution G A intron_variant MELA-AU 1 78198404 78198404 single base substitution G A upstream_gene_variant MELA-AU 1 78198666 78198666 single base substitution G A downstream_gene_variant MELA-AU 1 78198666 78198666 single base substitution G A intron_variant MELA-AU 1 78198666 78198666 single base substitution G A upstream_gene_variant MELA-AU 1 78198824 78198824 single base substitution A C downstream_gene_variant MELA-AU 1 78198824 78198824 single base substitution A C intron_variant MELA-AU 1 78198824 78198824 single base substitution A C upstream_gene_variant MELA-AU 1 78198900 78198900 single base substitution G A downstream_gene_variant MELA-AU 1 78198900 78198900 single base substitution G A intron_variant MELA-AU 1 78198900 78198900 single base substitution G A upstream_gene_variant MELA-AU 1 78199221 78199221 single base substitution A G downstream_gene_variant MELA-AU 1 78199221 78199221 single base substitution A G intron_variant MELA-AU 1 78199534 78199534 single base substitution G A downstream_gene_variant MELA-AU 1 78199534 78199534 single base substitution G A intron_variant MELA-AU 1 78199858 78199858 single base substitution G A downstream_gene_variant MELA-AU 1 78199858 78199858 single base substitution G A intron_variant MELA-AU 1 78200329 78200329 single base substitution A G downstream_gene_variant MELA-AU 1 78200329 78200329 single base substitution A G intron_variant MELA-AU 1 78201027 78201028 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 78201027 78201028 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 78202479 78202479 single base substitution G A downstream_gene_variant MELA-AU 1 78202479 78202479 single base substitution G A intron_variant MELA-AU 1 78202510 78202510 single base substitution G A downstream_gene_variant MELA-AU 1 78202510 78202510 single base substitution G A intron_variant MELA-AU 1 78202739 78202739 single base substitution G A downstream_gene_variant MELA-AU 1 78202739 78202739 single base substitution G A intron_variant MELA-AU 1 78203552 78203552 single base substitution G A downstream_gene_variant MELA-AU 1 78203552 78203552 single base substitution G A intron_variant MELA-AU 1 78203997 78203997 single base substitution C T downstream_gene_variant MELA-AU 1 78203997 78203997 single base substitution C T intron_variant MELA-AU 1 78204727 78204727 single base substitution C A downstream_gene_variant MELA-AU 1 78204727 78204727 single base substitution C A intron_variant MELA-AU 1 78205652 78205652 single base substitution G A intron_variant MELA-AU 1 78205970 78205970 single base substitution G A intron_variant MELA-AU 1 78206310 78206310 single base substitution G C intron_variant MELA-AU 1 78206717 78206718 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 78207582 78207582 single base substitution T A intron_variant MELA-AU 1 78208014 78208014 single base substitution G A intron_variant MELA-AU 1 78208282 78208282 single base substitution G A intron_variant MELA-AU 1 78208621 78208621 single base substitution T C intron_variant MELA-AU 1 78208653 78208653 single base substitution G A intron_variant MELA-AU 1 78208731 78208731 single base substitution G A intron_variant MELA-AU 1 78209234 78209234 single base substitution A G intron_variant MELA-AU 1 78210548 78210548 single base substitution G A intron_variant MELA-AU 1 78211489 78211489 single base substitution G A intron_variant MELA-AU 1 78211489 78211489 single base substitution G A upstream_gene_variant MELA-AU 1 78212054 78212054 single base substitution C T intron_variant MELA-AU 1 78212054 78212054 single base substitution C T upstream_gene_variant MELA-AU 1 78212107 78212107 single base substitution G A 5_prime_UTR_variant MELA-AU 1 78212107 78212107 single base substitution G A intron_variant MELA-AU 1 78212107 78212107 single base substitution G A upstream_gene_variant MELA-AU 1 78212248 78212248 single base substitution T C intron_variant MELA-AU 1 78212248 78212248 single base substitution T C splice_region_variant MELA-AU 1 78212248 78212248 single base substitution T C upstream_gene_variant MELA-AU 1 78212266 78212266 single base substitution G A intron_variant MELA-AU 1 78212266 78212266 single base substitution G A upstream_gene_variant MELA-AU 1 78212366 78212366 single base substitution A G intron_variant MELA-AU 1 78212366 78212366 single base substitution A G upstream_gene_variant MELA-AU 1 78212368 78212368 single base substitution G A intron_variant MELA-AU 1 78212368 78212368 single base substitution G A upstream_gene_variant MELA-AU 1 78213213 78213213 single base substitution G A intron_variant MELA-AU 1 78213213 78213213 single base substitution G A upstream_gene_variant MELA-AU 1 78213280 78213280 single base substitution T A intron_variant MELA-AU 1 78213280 78213280 single base substitution T A upstream_gene_variant MELA-AU 1 78213844 78213844 single base substitution T G intron_variant MELA-AU 1 78213844 78213844 single base substitution T G upstream_gene_variant MELA-AU 1 78214085 78214085 single base substitution G A intron_variant MELA-AU 1 78214085 78214085 single base substitution G A upstream_gene_variant MELA-AU 1 78214289 78214289 single base substitution G A intron_variant MELA-AU 1 78214289 78214289 single base substitution G A upstream_gene_variant MELA-AU 1 78215335 78215335 single base substitution G A intron_variant MELA-AU 1 78215335 78215335 single base substitution G A upstream_gene_variant MELA-AU 1 78216110 78216110 single base substitution G A intron_variant MELA-AU 1 78216110 78216110 single base substitution G A upstream_gene_variant MELA-AU 1 78217130 78217130 single base substitution G A intron_variant MELA-AU 1 78217158 78217170 deletion of <=200bp CAATACCCTGTCT - intron_variant MELA-AU 1 78217248 78217248 single base substitution G A intron_variant MELA-AU 1 78217805 78217805 single base substitution G A intron_variant MELA-AU 1 78218294 78218294 single base substitution T C intron_variant MELA-AU 1 78220173 78220173 single base substitution G A intron_variant MELA-AU 1 78221140 78221141 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 78221195 78221195 single base substitution A G intron_variant MELA-AU 1 78221196 78221196 single base substitution C G intron_variant MELA-AU 1 78221380 78221380 deletion of <=200bp C - intron_variant MELA-AU 1 78223343 78223343 single base substitution C T intron_variant MELA-AU 1 78223837 78223837 single base substitution C A intron_variant MELA-AU 1 78223985 78223985 single base substitution C G intron_variant MELA-AU 1 78224863 78224863 single base substitution C T intron_variant MELA-AU 1 78225120 78225149 deletion of <=200bp GCGACCACTAGATTATCTCTGCAACGCAGA - intron_variant MELA-AU 1 78225120 78225149 deletion of <=200bp GCGACCACTAGATTATCTCTGCAACGCAGA - upstream_gene_variant MELA-AU 1 78225639 78225639 single base substitution G A upstream_gene_variant MELA-AU 1 78225724 78225724 single base substitution C T upstream_gene_variant MELA-AU 1 78226359 78226359 single base substitution G A upstream_gene_variant MELA-AU 1 78226399 78226399 single base substitution C T upstream_gene_variant MELA-AU 1 78226550 78226551 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 78226823 78226824 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 78226890 78226890 single base substitution G A upstream_gene_variant MELA-AU 1 78227544 78227544 single base substitution T C upstream_gene_variant MELA-AU 1 78227691 78227691 single base substitution C T upstream_gene_variant MELA-AU 1 78227940 78227940 single base substitution G A upstream_gene_variant MELA-AU 1 78228071 78228071 single base substitution G A upstream_gene_variant MELA-AU 1 78228172 78228172 single base substitution G A upstream_gene_variant MELA-AU 1 78228321 78228321 single base substitution C T upstream_gene_variant MELA-AU 1 78228408 78228408 single base substitution A G upstream_gene_variant MELA-AU 1 78229094 78229094 single base substitution G T upstream_gene_variant MELA-AU 1 78229272 78229272 single base substitution G A upstream_gene_variant MELA-AU 1 78229578 78229578 single base substitution C T upstream_gene_variant MELA-AU 1 78230169 78230169 single base substitution C T upstream_gene_variant MELA-AU 1 78230474 78230474 single base substitution T A upstream_gene_variant ORCA-IN 1 78171270 78171270 single base substitution C G intron_variant ORCA-IN 1 78171270 78171270 single base substitution C G upstream_gene_variant ORCA-IN 1 78175573 78175573 single base substitution C T downstream_gene_variant ORCA-IN 1 78175573 78175573 single base substitution C T intron_variant ORCA-IN 1 78182076 78182076 single base substitution C T downstream_gene_variant ORCA-IN 1 78182076 78182076 single base substitution C T intron_variant ORCA-IN 1 78182076 78182076 single base substitution C T upstream_gene_variant ORCA-IN 1 78194691 78194691 single base substitution T A intron_variant ORCA-IN 1 78194691 78194691 single base substitution T A upstream_gene_variant ORCA-IN 1 78197292 78197292 single base substitution C T downstream_gene_variant ORCA-IN 1 78197292 78197292 single base substitution C T intron_variant ORCA-IN 1 78197292 78197292 single base substitution C T upstream_gene_variant ORCA-IN 1 78202425 78202425 single base substitution G C downstream_gene_variant ORCA-IN 1 78202425 78202425 single base substitution G C intron_variant OV-AU 1 78160246 78160246 single base substitution A T downstream_gene_variant OV-AU 1 78163170 78163170 single base substitution C T downstream_gene_variant OV-AU 1 78163170 78163170 single base substitution C T intron_variant OV-AU 1 78163317 78163317 single base substitution C T exon_variant OV-AU 1 78163317 78163317 single base substitution C T intron_variant OV-AU 1 78170932 78170932 single base substitution T G intron_variant OV-AU 1 78170932 78170932 single base substitution T G upstream_gene_variant OV-AU 1 78173002 78173002 single base substitution A C downstream_gene_variant OV-AU 1 78173002 78173002 single base substitution A C intron_variant OV-AU 1 78174184 78174184 single base substitution C T downstream_gene_variant OV-AU 1 78174184 78174184 single base substitution C T intron_variant OV-AU 1 78175347 78175347 single base substitution A G downstream_gene_variant OV-AU 1 78175347 78175347 single base substitution A G intron_variant OV-AU 1 78188230 78188230 single base substitution T C intron_variant OV-AU 1 78188230 78188230 single base substitution T C upstream_gene_variant OV-AU 1 78195268 78195268 single base substitution A T downstream_gene_variant OV-AU 1 78195268 78195268 single base substitution A T intron_variant OV-AU 1 78195268 78195268 single base substitution A T upstream_gene_variant OV-AU 1 78210859 78210859 single base substitution G T intron_variant OV-AU 1 78211588 78211588 single base substitution G C intron_variant OV-AU 1 78211588 78211588 single base substitution G C upstream_gene_variant OV-AU 1 78212695 78212695 single base substitution T C intron_variant OV-AU 1 78212695 78212695 single base substitution T C upstream_gene_variant OV-AU 1 78215269 78215269 single base substitution G T intron_variant OV-AU 1 78215269 78215269 single base substitution G T upstream_gene_variant OV-AU 1 78226411 78226411 single base substitution C G upstream_gene_variant OV-AU 1 78227752 78227752 single base substitution C G upstream_gene_variant OV-US 1 78180334 78180334 single base substitution G C downstream_gene_variant OV-US 1 78180334 78180334 single base substitution G C exon_variant OV-US 1 78180334 78180334 single base substitution G C intron_variant OV-US 1 78180334 78180334 single base substitution G C missense_variant P362R 1085C>G OV-US 1 78180334 78180334 single base substitution G C missense_variant P727R 2180C>G OV-US 1 78180334 78180334 single base substitution G C missense_variant P750R 2249C>G OV-US 1 78180334 78180334 single base substitution G C missense_variant P758R 2273C>G OV-US 1 78180334 78180334 single base substitution G C upstream_gene_variant PACA-AU 1 78157119 78157119 single base substitution C T downstream_gene_variant PACA-AU 1 78157120 78157120 single base substitution C A downstream_gene_variant PACA-AU 1 78163534 78163534 single base substitution C T exon_variant PACA-AU 1 78163534 78163534 single base substitution C T intron_variant PACA-AU 1 78171369 78171369 single base substitution T A intron_variant PACA-AU 1 78171369 78171369 single base substitution T A upstream_gene_variant PACA-AU 1 78175433 78175433 single base substitution T C downstream_gene_variant PACA-AU 1 78175433 78175433 single base substitution T C intron_variant PACA-AU 1 78175778 78175778 single base substitution C T downstream_gene_variant PACA-AU 1 78175778 78175778 single base substitution C T intron_variant PACA-AU 1 78178036 78178036 single base substitution C T intron_variant PACA-AU 1 78178603 78178603 single base substitution A G downstream_gene_variant PACA-AU 1 78178603 78178603 single base substitution A G intron_variant PACA-AU 1 78183468 78183468 single base substitution G A downstream_gene_variant PACA-AU 1 78183468 78183468 single base substitution G A exon_variant PACA-AU 1 78183468 78183468 single base substitution G A intron_variant PACA-AU 1 78183468 78183468 single base substitution G A upstream_gene_variant PACA-AU 1 78183590 78183590 single base substitution T A downstream_gene_variant PACA-AU 1 78183590 78183590 single base substitution T A exon_variant PACA-AU 1 78183590 78183590 single base substitution T A missense_variant D262V 785A>T PACA-AU 1 78183590 78183590 single base substitution T A missense_variant D627V 1880A>T PACA-AU 1 78183590 78183590 single base substitution T A missense_variant D650V 1949A>T PACA-AU 1 78183590 78183590 single base substitution T A missense_variant D658V 1973A>T PACA-AU 1 78183590 78183590 single base substitution T A upstream_gene_variant PACA-AU 1 78192046 78192046 single base substitution A G intron_variant PACA-AU 1 78192046 78192046 single base substitution A G upstream_gene_variant PACA-AU 1 78207188 78207188 single base substitution A T intron_variant PACA-AU 1 78208001 78208001 single base substitution C A intron_variant PACA-AU 1 78208601 78208601 insertion of <=200bp - TTAT intron_variant PACA-AU 1 78221630 78221630 single base substitution G C intron_variant PACA-AU 1 78229673 78229673 single base substitution G T upstream_gene_variant PACA-CA 1 78157118 78157118 single base substitution C A downstream_gene_variant PACA-CA 1 78158830 78158830 single base substitution T C downstream_gene_variant PACA-CA 1 78160248 78160248 single base substitution T A downstream_gene_variant PACA-CA 1 78163171 78163171 single base substitution G A downstream_gene_variant PACA-CA 1 78163171 78163171 single base substitution G A intron_variant PACA-CA 1 78164806 78164806 insertion of <=200bp - A intron_variant PACA-CA 1 78166828 78166828 deletion of <=200bp G - intron_variant PACA-CA 1 78167308 78167308 single base substitution G T exon_variant PACA-CA 1 78167308 78167308 single base substitution G T intron_variant PACA-CA 1 78168854 78168854 single base substitution C A intron_variant PACA-CA 1 78168854 78168854 single base substitution C A upstream_gene_variant PACA-CA 1 78173633 78173633 single base substitution G A downstream_gene_variant PACA-CA 1 78173633 78173633 single base substitution G A intron_variant PACA-CA 1 78180571 78180571 single base substitution T A downstream_gene_variant PACA-CA 1 78180571 78180571 single base substitution T A exon_variant PACA-CA 1 78180571 78180571 single base substitution T A intron_variant PACA-CA 1 78180571 78180571 single base substitution T A upstream_gene_variant PACA-CA 1 78188218 78188218 single base substitution T C intron_variant PACA-CA 1 78188218 78188218 single base substitution T C upstream_gene_variant PACA-CA 1 78191570 78191570 single base substitution A G intron_variant PACA-CA 1 78191570 78191570 single base substitution A G upstream_gene_variant PACA-CA 1 78192514 78192514 insertion of <=200bp - T intron_variant PACA-CA 1 78192514 78192514 insertion of <=200bp - T upstream_gene_variant PACA-CA 1 78192522 78192522 single base substitution A G intron_variant PACA-CA 1 78192522 78192522 single base substitution A G upstream_gene_variant PACA-CA 1 78195562 78195562 single base substitution G A downstream_gene_variant PACA-CA 1 78195562 78195562 single base substitution G A missense_variant R234W 700C>T PACA-CA 1 78195562 78195562 single base substitution G A missense_variant R265W 793C>T PACA-CA 1 78195562 78195562 single base substitution G A upstream_gene_variant PACA-CA 1 78197672 78197672 single base substitution G A downstream_gene_variant PACA-CA 1 78197672 78197672 single base substitution G A intron_variant PACA-CA 1 78197672 78197672 single base substitution G A upstream_gene_variant PACA-CA 1 78200503 78200503 single base substitution G A downstream_gene_variant PACA-CA 1 78200503 78200503 single base substitution G A intron_variant PACA-CA 1 78200518 78200518 single base substitution T C downstream_gene_variant PACA-CA 1 78200518 78200518 single base substitution T C intron_variant PACA-CA 1 78202726 78202726 single base substitution T A downstream_gene_variant PACA-CA 1 78202726 78202726 single base substitution T A intron_variant PACA-CA 1 78209214 78209214 single base substitution C G intron_variant PACA-CA 1 78213978 78213978 single base substitution C A intron_variant PACA-CA 1 78213978 78213978 single base substitution C A upstream_gene_variant PACA-CA 1 78216434 78216434 single base substitution C A intron_variant PACA-CA 1 78216928 78216928 single base substitution A G intron_variant PACA-CA 1 78224618 78224618 single base substitution G T intron_variant PACA-CA 1 78226317 78226317 single base substitution A G upstream_gene_variant PACA-CA 1 78228391 78228391 single base substitution T G upstream_gene_variant PACA-CA 1 78229146 78229146 single base substitution G T upstream_gene_variant PACA-CA 1 78229826 78229826 deletion of <=200bp A - upstream_gene_variant PAEN-AU 1 78163921 78163921 single base substitution G T intron_variant PAEN-AU 1 78221271 78221271 single base substitution T A intron_variant PAEN-AU 1 78225573 78225573 single base substitution T G upstream_gene_variant PAEN-AU 1 78228809 78228809 single base substitution G T upstream_gene_variant PAEN-IT 1 78184110 78184110 single base substitution G T intron_variant PAEN-IT 1 78184110 78184110 single base substitution G T upstream_gene_variant PAEN-IT 1 78209617 78209617 single base substitution C T intron_variant PBCA-DE 1 78159432 78159432 deletion of <=200bp T - downstream_gene_variant PBCA-DE 1 78167005 78167005 insertion of <=200bp - A intron_variant PBCA-DE 1 78169759 78169759 single base substitution C T intron_variant PBCA-DE 1 78169759 78169759 single base substitution C T upstream_gene_variant PBCA-DE 1 78175224 78175224 insertion of <=200bp - AT downstream_gene_variant PBCA-DE 1 78175224 78175224 insertion of <=200bp - AT intron_variant PBCA-DE 1 78175346 78175347 deletion of <=200bp TA - downstream_gene_variant PBCA-DE 1 78175346 78175347 deletion of <=200bp TA - intron_variant PBCA-DE 1 78175568 78175569 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 1 78175568 78175569 deletion of <=200bp AC - intron_variant PBCA-DE 1 78176552 78176552 single base substitution T G downstream_gene_variant PBCA-DE 1 78176552 78176552 single base substitution T G intron_variant PBCA-DE 1 78189379 78189380 deletion of <=200bp CG - intron_variant PBCA-DE 1 78189379 78189380 deletion of <=200bp CG - upstream_gene_variant PBCA-DE 1 78192856 78192856 single base substitution C T intron_variant PBCA-DE 1 78192856 78192856 single base substitution C T upstream_gene_variant PBCA-DE 1 78199424 78199424 insertion of <=200bp - A downstream_gene_variant PBCA-DE 1 78199424 78199424 insertion of <=200bp - A intron_variant PBCA-DE 1 78223485 78223485 single base substitution G T intron_variant PBCA-DE 1 78225741 78225741 single base substitution C A upstream_gene_variant PBCA-DE 1 78226188 78226188 single base substitution T G upstream_gene_variant PBCA-DE 1 78230497 78230497 single base substitution G T upstream_gene_variant PRAD-CA 1 78181936 78181936 single base substitution G A downstream_gene_variant PRAD-CA 1 78181936 78181936 single base substitution G A intron_variant PRAD-CA 1 78181936 78181936 single base substitution G A upstream_gene_variant PRAD-CA 1 78217554 78217554 single base substitution C G intron_variant PRAD-UK 1 78157061 78157061 single base substitution C T downstream_gene_variant PRAD-UK 1 78166307 78166307 single base substitution T C intron_variant PRAD-UK 1 78167482 78167482 single base substitution G A intron_variant PRAD-UK 1 78167482 78167482 single base substitution G A upstream_gene_variant PRAD-UK 1 78179959 78179959 single base substitution G A downstream_gene_variant PRAD-UK 1 78179959 78179959 single base substitution G A intron_variant PRAD-UK 1 78179959 78179959 single base substitution G A upstream_gene_variant PRAD-UK 1 78198863 78198863 single base substitution G A downstream_gene_variant PRAD-UK 1 78198863 78198863 single base substitution G A intron_variant PRAD-UK 1 78198863 78198863 single base substitution G A upstream_gene_variant PRAD-UK 1 78207455 78207455 single base substitution C A intron_variant PRAD-UK 1 78211102 78211102 single base substitution T A intron_variant PRAD-UK 1 78211102 78211102 single base substitution T A splice_region_variant PRAD-UK 1 78216674 78216674 single base substitution T G intron_variant PRAD-US 1 78194272 78194272 single base substitution G A synonymous_variant S281S 843C>T PRAD-US 1 78194272 78194272 single base substitution G A synonymous_variant S312S 936C>T PRAD-US 1 78194272 78194272 single base substitution G A upstream_gene_variant READ-US 1 78177520 78177520 single base substitution A G 3_prime_UTR_variant READ-US 1 78177520 78177520 single base substitution A G exon_variant READ-US 1 78177520 78177520 single base substitution A G missense_variant V408A 1223T>C READ-US 1 78177520 78177520 single base substitution A G missense_variant V773A 2318T>C READ-US 1 78177520 78177520 single base substitution A G missense_variant V796A 2387T>C READ-US 1 78177520 78177520 single base substitution A G missense_variant V804A 2411T>C READ-US 1 78207335 78207335 single base substitution T A exon_variant READ-US 1 78207335 78207335 single base substitution T A missense_variant E16D 48A>T READ-US 1 78207335 78207335 single base substitution T A missense_variant E47D 141A>T READ-US 1 78207370 78207370 single base substitution G A exon_variant READ-US 1 78207370 78207370 single base substitution G A stop_gained R36* 106C>T READ-US 1 78207370 78207370 single base substitution G A stop_gained R5* 13C>T READ-US 1 78207427 78207427 single base substitution G A 5_prime_UTR_variant READ-US 1 78207427 78207427 single base substitution G A exon_variant READ-US 1 78207427 78207427 single base substitution G A missense_variant P17S 49C>T RECA-EU 1 78159353 78159353 single base substitution T A downstream_gene_variant RECA-EU 1 78160161 78160161 single base substitution G T downstream_gene_variant RECA-EU 1 78166471 78166471 single base substitution C T intron_variant RECA-EU 1 78174612 78174612 single base substitution C A downstream_gene_variant RECA-EU 1 78174612 78174612 single base substitution C A intron_variant RECA-EU 1 78175597 78175597 single base substitution C T downstream_gene_variant RECA-EU 1 78175597 78175597 single base substitution C T intron_variant RECA-EU 1 78179533 78179533 single base substitution A G downstream_gene_variant RECA-EU 1 78179533 78179533 single base substitution A G intron_variant RECA-EU 1 78179533 78179533 single base substitution A G upstream_gene_variant RECA-EU 1 78196112 78196112 single base substitution C G downstream_gene_variant RECA-EU 1 78196112 78196112 single base substitution C G intron_variant RECA-EU 1 78196112 78196112 single base substitution C G upstream_gene_variant RECA-EU 1 78199995 78199995 single base substitution A C downstream_gene_variant RECA-EU 1 78199995 78199995 single base substitution A C intron_variant RECA-EU 1 78207171 78207171 single base substitution T A intron_variant RECA-EU 1 78213066 78213066 single base substitution A C intron_variant RECA-EU 1 78213066 78213066 single base substitution A C upstream_gene_variant RECA-EU 1 78213761 78213761 single base substitution T C intron_variant RECA-EU 1 78213761 78213761 single base substitution T C upstream_gene_variant RECA-EU 1 78228162 78228162 single base substitution A T upstream_gene_variant SKCA-BR 1 78157261 78157261 single base substitution C T downstream_gene_variant SKCA-BR 1 78160252 78160252 single base substitution T A downstream_gene_variant SKCA-BR 1 78167850 78167863 deletion of <=200bp AAAAAAAAAAAAAC - intron_variant SKCA-BR 1 78167850 78167863 deletion of <=200bp AAAAAAAAAAAAAC - upstream_gene_variant SKCA-BR 1 78169871 78169871 single base substitution G A intron_variant SKCA-BR 1 78169871 78169871 single base substitution G A upstream_gene_variant SKCA-BR 1 78173706 78173706 single base substitution G A downstream_gene_variant SKCA-BR 1 78173706 78173706 single base substitution G A intron_variant SKCA-BR 1 78176388 78176388 single base substitution C T downstream_gene_variant SKCA-BR 1 78176388 78176388 single base substitution C T intron_variant SKCA-BR 1 78176831 78176831 single base substitution G A downstream_gene_variant SKCA-BR 1 78176831 78176831 single base substitution G A intron_variant SKCA-BR 1 78182591 78182591 single base substitution C T downstream_gene_variant SKCA-BR 1 78182591 78182591 single base substitution C T intron_variant SKCA-BR 1 78182591 78182591 single base substitution C T upstream_gene_variant SKCA-BR 1 78185529 78185529 single base substitution G A intron_variant SKCA-BR 1 78185529 78185529 single base substitution G A upstream_gene_variant SKCA-BR 1 78188332 78188332 single base substitution A C intron_variant SKCA-BR 1 78188332 78188332 single base substitution A C upstream_gene_variant SKCA-BR 1 78199716 78199716 single base substitution A T downstream_gene_variant SKCA-BR 1 78199716 78199716 single base substitution A T intron_variant SKCA-BR 1 78200626 78200626 single base substitution G A downstream_gene_variant SKCA-BR 1 78200626 78200626 single base substitution G A intron_variant SKCA-BR 1 78200807 78200807 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 1 78200807 78200807 insertion of <=200bp - CA intron_variant SKCA-BR 1 78204564 78204564 single base substitution G A downstream_gene_variant SKCA-BR 1 78204564 78204564 single base substitution G A intron_variant SKCA-BR 1 78209591 78209591 single base substitution G A intron_variant SKCA-BR 1 78209807 78209808 deletion of <=200bp CA - intron_variant SKCA-BR 1 78214464 78214464 single base substitution T C intron_variant SKCA-BR 1 78214464 78214464 single base substitution T C upstream_gene_variant SKCA-BR 1 78216594 78216594 single base substitution G A intron_variant SKCA-BR 1 78216595 78216595 single base substitution G A intron_variant SKCA-BR 1 78217177 78217177 single base substitution C A intron_variant SKCA-BR 1 78225156 78225156 single base substitution A G intron_variant SKCA-BR 1 78225156 78225156 single base substitution A G upstream_gene_variant SKCA-BR 1 78225173 78225173 single base substitution T C intron_variant SKCA-BR 1 78225173 78225173 single base substitution T C upstream_gene_variant SKCA-BR 1 78225302 78225302 single base substitution G C intron_variant SKCA-BR 1 78225302 78225302 single base substitution G C upstream_gene_variant SKCA-BR 1 78226799 78226799 single base substitution C T upstream_gene_variant SKCA-BR 1 78228042 78228042 single base substitution G A upstream_gene_variant SKCM-US 1 78177434 78177434 single base substitution G A 3_prime_UTR_variant SKCM-US 1 78177434 78177434 single base substitution G A downstream_gene_variant SKCM-US 1 78177434 78177434 single base substitution G A exon_variant SKCM-US 1 78177434 78177434 single base substitution G A missense_variant R437W 1309C>T SKCM-US 1 78177434 78177434 single base substitution G A missense_variant R802W 2404C>T SKCM-US 1 78177434 78177434 single base substitution G A missense_variant R825W 2473C>T SKCM-US 1 78177434 78177434 single base substitution G A missense_variant R833W 2497C>T SKCM-US 1 78177436 78177436 single base substitution A T 3_prime_UTR_variant SKCM-US 1 78177436 78177436 single base substitution A T downstream_gene_variant SKCM-US 1 78177436 78177436 single base substitution A T exon_variant SKCM-US 1 78177436 78177436 single base substitution A T missense_variant I436N 1307T>A SKCM-US 1 78177436 78177436 single base substitution A T missense_variant I801N 2402T>A SKCM-US 1 78177436 78177436 single base substitution A T missense_variant I824N 2471T>A SKCM-US 1 78177436 78177436 single base substitution A T missense_variant I832N 2495T>A SKCM-US 1 78180377 78180377 single base substitution G A downstream_gene_variant SKCM-US 1 78180377 78180377 single base substitution G A exon_variant SKCM-US 1 78180377 78180377 single base substitution G A intron_variant SKCM-US 1 78180377 78180377 single base substitution G A stop_gained R348* 1042C>T SKCM-US 1 78180377 78180377 single base substitution G A stop_gained R713* 2137C>T SKCM-US 1 78180377 78180377 single base substitution G A stop_gained R736* 2206C>T SKCM-US 1 78180377 78180377 single base substitution G A stop_gained R744* 2230C>T SKCM-US 1 78180377 78180377 single base substitution G A upstream_gene_variant SKCM-US 1 78180395 78180395 single base substitution G A downstream_gene_variant SKCM-US 1 78180395 78180395 single base substitution G A exon_variant SKCM-US 1 78180395 78180395 single base substitution G A intron_variant SKCM-US 1 78180395 78180395 single base substitution G A missense_variant L342F 1024C>T SKCM-US 1 78180395 78180395 single base substitution G A missense_variant L707F 2119C>T SKCM-US 1 78180395 78180395 single base substitution G A missense_variant L730F 2188C>T SKCM-US 1 78180395 78180395 single base substitution G A missense_variant L738F 2212C>T SKCM-US 1 78180395 78180395 single base substitution G A upstream_gene_variant SKCM-US 1 78183733 78183733 single base substitution C T splice_acceptor_variant SKCM-US 1 78183733 78183733 single base substitution C T upstream_gene_variant SKCM-US 1 78184297 78184297 single base substitution A C exon_variant SKCM-US 1 78184297 78184297 single base substitution A C missense_variant V209G 626T>G SKCM-US 1 78184297 78184297 single base substitution A C missense_variant V574G 1721T>G SKCM-US 1 78184297 78184297 single base substitution A C missense_variant V597G 1790T>G SKCM-US 1 78184297 78184297 single base substitution A C missense_variant V605G 1814T>G SKCM-US 1 78184297 78184297 single base substitution A C upstream_gene_variant SKCM-US 1 78189114 78189114 single base substitution G A missense_variant P431S 1291C>T SKCM-US 1 78189114 78189114 single base substitution G A missense_variant P462S 1384C>T SKCM-US 1 78189114 78189114 single base substitution G A missense_variant P66S 196C>T SKCM-US 1 78189114 78189114 single base substitution G A upstream_gene_variant SKCM-US 1 78191348 78191348 single base substitution G A missense_variant S412L 1235C>T SKCM-US 1 78191348 78191348 single base substitution G A missense_variant S443L 1328C>T SKCM-US 1 78191348 78191348 single base substitution G A missense_variant S47L 140C>T SKCM-US 1 78191348 78191348 single base substitution G A upstream_gene_variant SKCM-US 1 78191366 78191366 single base substitution G A missense_variant S406L 1217C>T SKCM-US 1 78191366 78191366 single base substitution G A missense_variant S41L 122C>T SKCM-US 1 78191366 78191366 single base substitution G A missense_variant S437L 1310C>T SKCM-US 1 78191366 78191366 single base substitution G A upstream_gene_variant SKCM-US 1 78191401 78191401 single base substitution G A synonymous_variant I29I 87C>T SKCM-US 1 78191401 78191401 single base substitution G A synonymous_variant I394I 1182C>T SKCM-US 1 78191401 78191401 single base substitution G A synonymous_variant I425I 1275C>T SKCM-US 1 78191401 78191401 single base substitution G A upstream_gene_variant SKCM-US 1 78207390 78207390 single base substitution G A 5_prime_UTR_variant SKCM-US 1 78207390 78207390 single base substitution G A exon_variant SKCM-US 1 78207390 78207390 single base substitution G A missense_variant P29L 86C>T STAD-US 1 78163101 78163101 single base substitution A G 3_prime_UTR_variant STAD-US 1 78163101 78163101 single base substitution A G downstream_gene_variant STAD-US 1 78163101 78163101 single base substitution A G synonymous_variant G879G 2637T>C STAD-US 1 78163101 78163101 single base substitution A G synonymous_variant G910G 2730T>C STAD-US 1 78163606 78163606 single base substitution A G exon_variant STAD-US 1 78163606 78163606 single base substitution A G missense_variant V441A 1322T>C STAD-US 1 78163606 78163606 single base substitution A G synonymous_variant G840G 2520T>C STAD-US 1 78163606 78163606 single base substitution A G synonymous_variant G871G 2613T>C STAD-US 1 78177504 78177504 single base substitution A G 3_prime_UTR_variant STAD-US 1 78177504 78177504 single base substitution A G exon_variant STAD-US 1 78177504 78177504 single base substitution A G synonymous_variant I413I 1239T>C STAD-US 1 78177504 78177504 single base substitution A G synonymous_variant I778I 2334T>C STAD-US 1 78177504 78177504 single base substitution A G synonymous_variant I801I 2403T>C STAD-US 1 78177504 78177504 single base substitution A G synonymous_variant I809I 2427T>C STAD-US 1 78178969 78178969 deletion of <=200bp A - downstream_gene_variant STAD-US 1 78178969 78178969 deletion of <=200bp A - exon_variant STAD-US 1 78178969 78178969 deletion of <=200bp A - splice_region_variant STAD-US 1 78180466 78180466 single base substitution T G downstream_gene_variant STAD-US 1 78180466 78180466 single base substitution T G exon_variant STAD-US 1 78180466 78180466 single base substitution T G intron_variant STAD-US 1 78180466 78180466 single base substitution T G missense_variant K318T 953A>C STAD-US 1 78180466 78180466 single base substitution T G missense_variant K683T 2048A>C STAD-US 1 78180466 78180466 single base substitution T G missense_variant K706T 2117A>C STAD-US 1 78180466 78180466 single base substitution T G missense_variant K714T 2141A>C STAD-US 1 78180466 78180466 single base substitution T G upstream_gene_variant STAD-US 1 78183583 78183583 single base substitution C T downstream_gene_variant STAD-US 1 78183583 78183583 single base substitution C T exon_variant STAD-US 1 78183583 78183583 single base substitution C T synonymous_variant L264L 792G>A STAD-US 1 78183583 78183583 single base substitution C T synonymous_variant L629L 1887G>A STAD-US 1 78183583 78183583 single base substitution C T synonymous_variant L652L 1956G>A STAD-US 1 78183583 78183583 single base substitution C T synonymous_variant L660L 1980G>A STAD-US 1 78183583 78183583 single base substitution C T upstream_gene_variant STAD-US 1 78187594 78187594 single base substitution C T exon_variant STAD-US 1 78187594 78187594 single base substitution C T missense_variant V162I 484G>A STAD-US 1 78187594 78187594 single base substitution C T missense_variant V527I 1579G>A STAD-US 1 78187594 78187594 single base substitution C T missense_variant V558I 1672G>A STAD-US 1 78187594 78187594 single base substitution C T splice_region_variant STAD-US 1 78187594 78187594 single base substitution C T upstream_gene_variant STAD-US 1 78187762 78187762 single base substitution G A exon_variant STAD-US 1 78187762 78187762 single base substitution G A synonymous_variant G138G 414C>T STAD-US 1 78187762 78187762 single base substitution G A synonymous_variant G503G 1509C>T STAD-US 1 78187762 78187762 single base substitution G A synonymous_variant G534G 1602C>T STAD-US 1 78187762 78187762 single base substitution G A upstream_gene_variant STAD-US 1 78194238 78194238 single base substitution A G missense_variant C293R 877T>C STAD-US 1 78194238 78194238 single base substitution A G missense_variant C324R 970T>C STAD-US 1 78194238 78194238 single base substitution A G upstream_gene_variant STAD-US 1 78195593 78195593 single base substitution A G downstream_gene_variant STAD-US 1 78195593 78195593 single base substitution A G synonymous_variant F223F 669T>C STAD-US 1 78195593 78195593 single base substitution A G synonymous_variant F254F 762T>C STAD-US 1 78195593 78195593 single base substitution A G upstream_gene_variant STAD-US 1 78201795 78201795 single base substitution C T downstream_gene_variant STAD-US 1 78201795 78201795 single base substitution C T missense_variant V134I 400G>A STAD-US 1 78201795 78201795 single base substitution C T missense_variant V165I 493G>A STAD-US 1 78204970 78204970 deletion of <=200bp T - downstream_gene_variant STAD-US 1 78204970 78204970 deletion of <=200bp T - frameshift_variant I111 STAD-US 1 78204970 78204970 deletion of <=200bp T - frameshift_variant I142 STAD-US 1 78205026 78205026 insertion of <=200bp - A downstream_gene_variant STAD-US 1 78205026 78205026 insertion of <=200bp - A exon_variant STAD-US 1 78205026 78205026 insertion of <=200bp - A frameshift_variant L123F? STAD-US 1 78205026 78205026 insertion of <=200bp - A frameshift_variant L92F? STAD-US 1 78205094 78205094 single base substitution C T exon_variant STAD-US 1 78205094 78205094 single base substitution C T synonymous_variant K100K 300G>A STAD-US 1 78205094 78205094 single base substitution C T synonymous_variant K69K 207G>A STAD-US 1 78207399 78207399 single base substitution T C 5_prime_UTR_variant STAD-US 1 78207399 78207399 single base substitution T C exon_variant STAD-US 1 78207399 78207399 single base substitution T C missense_variant E26G 77A>G UCEC-US 1 78163050 78163050 single base substitution A G 3_prime_UTR_variant UCEC-US 1 78163050 78163050 single base substitution A G downstream_gene_variant UCEC-US 1 78163050 78163050 single base substitution A G synonymous_variant D896D 2688T>C UCEC-US 1 78163050 78163050 single base substitution A G synonymous_variant D927D 2781T>C UCEC-US 1 78180399 78180399 single base substitution G A downstream_gene_variant UCEC-US 1 78180399 78180399 single base substitution G A exon_variant UCEC-US 1 78180399 78180399 single base substitution G A intron_variant UCEC-US 1 78180399 78180399 single base substitution G A synonymous_variant S340S 1020C>T UCEC-US 1 78180399 78180399 single base substitution G A synonymous_variant S705S 2115C>T UCEC-US 1 78180399 78180399 single base substitution G A synonymous_variant S728S 2184C>T UCEC-US 1 78180399 78180399 single base substitution G A synonymous_variant S736S 2208C>T UCEC-US 1 78180399 78180399 single base substitution G A upstream_gene_variant UCEC-US 1 78181526 78181526 single base substitution T C downstream_gene_variant UCEC-US 1 78181526 78181526 single base substitution T C exon_variant UCEC-US 1 78181526 78181526 single base substitution T C missense_variant N284S 851A>G UCEC-US 1 78181526 78181526 single base substitution T C missense_variant N649S 1946A>G UCEC-US 1 78181526 78181526 single base substitution T C missense_variant N672S 2015A>G UCEC-US 1 78181526 78181526 single base substitution T C missense_variant N680S 2039A>G UCEC-US 1 78181526 78181526 single base substitution T C upstream_gene_variant UCEC-US 1 78189051 78189051 single base substitution T G missense_variant I452L 1354A>C UCEC-US 1 78189051 78189051 single base substitution T G missense_variant I483L 1447A>C UCEC-US 1 78189051 78189051 single base substitution T G missense_variant I87L 259A>C UCEC-US 1 78189051 78189051 single base substitution T G upstream_gene_variant UCEC-US 1 78189120 78189120 single base substitution C T missense_variant A429T 1285G>A UCEC-US 1 78189120 78189120 single base substitution C T missense_variant A460T 1378G>A UCEC-US 1 78189120 78189120 single base substitution C T missense_variant A64T 190G>A UCEC-US 1 78189120 78189120 single base substitution C T upstream_gene_variant UCEC-US 1 78194045 78194045 single base substitution A G missense_variant I357T 1070T>C UCEC-US 1 78194045 78194045 single base substitution A G missense_variant I388T 1163T>C UCEC-US 1 78194045 78194045 single base substitution A G upstream_gene_variant UCEC-US 1 78194070 78194070 single base substitution C T missense_variant E349K 1045G>A UCEC-US 1 78194070 78194070 single base substitution C T missense_variant E380K 1138G>A UCEC-US 1 78194070 78194070 single base substitution C T upstream_gene_variant UCEC-US 1 78194081 78194081 single base substitution T G missense_variant N345T 1034A>C UCEC-US 1 78194081 78194081 single base substitution T G missense_variant N376T 1127A>C UCEC-US 1 78194081 78194081 single base substitution T G upstream_gene_variant UCEC-US 1 78194166 78194166 single base substitution T C missense_variant M317V 949A>G UCEC-US 1 78194166 78194166 single base substitution T C missense_variant M348V 1042A>G UCEC-US 1 78194166 78194166 single base substitution T C upstream_gene_variant UCEC-US 1 78195562 78195562 single base substitution G A downstream_gene_variant UCEC-US 1 78195562 78195562 single base substitution G A missense_variant R234W 700C>T UCEC-US 1 78195562 78195562 single base substitution G A missense_variant R265W 793C>T UCEC-US 1 78195562 78195562 single base substitution G A upstream_gene_variant UCEC-US 1 78205036 78205036 single base substitution C A downstream_gene_variant UCEC-US 1 78205036 78205036 single base substitution C A exon_variant UCEC-US 1 78205036 78205036 single base substitution C A stop_gained E120* 358G>T UCEC-US 1 78205036 78205036 single base substitution C A stop_gained E89* 265G>T UCEC-US 1 78207369 78207369 single base substitution C T exon_variant UCEC-US 1 78207369 78207369 single base substitution C T missense_variant R36Q 107G>A UCEC-US 1 78207369 78207369 single base substitution C T missense_variant R5Q 14G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand pfg008T COSM1639973 c.1464G>A p.Q488Q Substitution - coding silent 1:77723349-77723349 - TCGA-A8-A085-01 COSM426706 c.1728C>G p.F576L Substitution - Missense 1:77721853-77721853 - PD5930a COSM5795849 c.1727T>C p.F576S Substitution - Missense 1:77721854-77721854 - TCGA-CJ-5683-01 COSM464964 c.1381T>C p.S461P Substitution - Missense 1:77723432-77723432 - TCGA-G9-6333-01 COSM3671827 c.807G>T p.Q269H Substitution - Missense 1:77729863-77729863 - TCGA-BC-A3KG-01 COSM4942527 c.1911A>G p.L637L Substitution - coding silent 1:77717967-77717967 - TCGA-EB-A5UL-06 COSM3492484 c.1814T>G p.V605G Substitution - Missense 1:77718612-77718612 - HCC59 COSM3706036 c.1626G>T p.W542C Substitution - Missense 1:77722053-77722053 - TCGA-D3-A2JO-06 COSM3492487 c.86C>T p.P29L Substitution - Missense 1:77741705-77741705 - TCGA-EE-A182-06 COSM3492485 c.1328C>T p.S443L Substitution - Missense 1:77725663-77725663 - TCGA-HU-A4GQ-01 COSM4009960 c.2730T>C p.G910G Substitution - coding silent 1:77697416-77697416 - TCGA-BR-6452-01 COSM4009967 c.970T>C p.C324R Substitution - Missense 1:77728553-77728553 - TCGA-AC-A62Y-01 COSM3805907 c.2693C>G p.S898C Substitution - Missense 1:77697453-77697453 - CHC909T COSM4806203 c.1830G>A p.E610E Substitution - coding silent 1:77718596-77718596 - TCGA-BQ-7058-01 COSM3985227 c.2743G>T p.V915F Substitution - Missense 1:77697403-77697403 - B85-0-Tumor COSM1748610 c.1145A>G p.D382G Substitution - Missense 1:77728378-77728378 - TCGA-BR-8680-01 COSM4009968 c.762T>C p.F254F Substitution - coding silent 1:77729908-77729908 - 8030020 COSM1168685 c.1973A>T p.D658V Substitution - Missense 1:77717905-77717905 - HCC49 COSM1602684 c.2046A>C p.L682L Substitution - coding silent 1:77715834-77715834 - 8067800 COSM1168685 c.1973A>T p.D658V Substitution - Missense 1:77717905-77717905 - TCGA-AX-A05Z-01 COSM912292 c.793C>T p.R265W Substitution - Missense 1:77729877-77729877 - CHC1747T COSM4788061 c.307C>G p.L103V Substitution - Missense 1:77739402-77739402 - TCGA-AZ-6599-01 COSM1344399 c.1821C>T p.N607N Substitution - coding silent 1:77718605-77718605 - TCGA-F5-6814-01 COSM3419480 c.106C>T p.R36* Substitution - Nonsense 1:77741685-77741685 - TCGA-HU-A4G8-01 COSM4009964 c.1980G>A p.L660L Substitution - coding silent 1:77717898-77717898 - TCGA-A5-A0GW-01 COSM912285 c.2016A>T p.G672G Substitution - coding silent 1:77715864-77715864 - TCGA-22-4613-01 COSM682046 c.2812G>A p.E938K Substitution - Missense 1:77697334-77697334 - TCGA-GN-A269-01 COSM3492482 c.2212C>T p.L738F Substitution - Missense 1:77714710-77714710 - YUSWI COSM1687949 c.170C>T p.S57F Substitution - Missense 1:77741621-77741621 - TCGA-F5-6814-01 COSM3419479 c.141A>T p.E47D Substitution - Missense 1:77741650-77741650 - TCGA-DK-A3IT-01 COSM1296710 c.1667C>T p.S556L Substitution - Missense 1:77721914-77721914 - PD18189a COSM5787142 c.837A>G p.L279L Substitution - coding silent 1:77728686-77728686 - 19 COSM5745663 c.104T>C p.F35S Substitution - Missense 1:77741687-77741687 - TCGA-G4-6588-01 COSM1344401 c.1355C>T p.P452L Substitution - Missense 1:77725636-77725636 - TCGA-EE-A2MR-06 COSM3492479 c.2497C>T p.R833W Substitution - Missense 1:77711749-77711749 - TCGA-AA-3852-01 COSM271904 c.463A>G p.N155D Substitution - Missense 1:77736140-77736140 - HCC49T COSM1602684 c.2046A>C p.L682L Substitution - coding silent 1:77715834-77715834 - TCGA-EE-A3JI-06 COSM3492481 c.2230C>T p.R744* Substitution - Nonsense 1:77714692-77714692 - CSCC-41-T COSM4468408 c.1542C>T p.D514D Substitution - coding silent 1:77722137-77722137 - TCGA-BS-A0UA-01 COSM196716 c.107G>A p.R36Q Substitution - Missense 1:77741684-77741684 - TCGA-D9-A1JW-06 COSM3492480 c.2495T>A p.I832N Substitution - Missense 1:77711751-77711751 - TCGA-CW-5580-01 COSM464965 c.787A>G p.T263A Substitution - Missense 1:77729883-77729883 - CRC-06T COSM5456661 c.1304G>A p.R435H Substitution - Missense 1:77725687-77725687 - S00539 COSM316408 c.292-2A>T p.? Unknown 1:77739419-77739419 - TCGA-BR-8680-01 COSM4009963 c.2141A>C p.K714T Substitution - Missense 1:77714781-77714781 - ESCC_30 COSM5627597 c.1663G>T p.V555F Substitution - Missense 1:77721918-77721918 - TCGA-E2-A150-01 COSM426708 c.1031A>T p.N344I Substitution - Missense 1:77728492-77728492 - B85-0 COSM1748610 c.1145A>G p.D382G Substitution - Missense 1:77728378-77728378 - TCGA-18-4083-01 COSM682040 c.100G>A p.A34T Substitution - Missense 1:77741691-77741691 - CSCC-44-T COSM4537737 c.2452G>C p.E818Q Substitution - Missense 1:77711794-77711794 - HCT15 COSM2242437 c.1609T>C p.Y537H Substitution - Missense 1:77722070-77722070 - YUPAT COSM1687948 c.1901C>T p.S634L Substitution - Missense 1:77717977-77717977 - HT115 COSM2242465 c.662G>A p.R221Q Substitution - Missense 1:77730687-77730687 - SNUH_G13_S1 COSM3751392 c.543C>A p.A181A Substitution - coding silent 1:77736060-77736060 - TCGA-AA-A00N-01 COSM278039 c.1138G>A p.E380K Substitution - Missense 1:77728385-77728385 - SJBALL021305_D1 COSM4994038 c.1489G>A p.V497I Substitution - Missense 1:77722190-77722190 - S01366 COSM316409 c.795G>T p.R265R Substitution - coding silent 1:77729875-77729875 - TCGA-Q1-A5R3-01 COSM4834000 c.1444A>C p.T482P Substitution - Missense 1:77723369-77723369 - S01366 COSM316409 c.795G>T p.R265R Substitution - coding silent 1:77729875-77729875 - PCSI_0083_Pa_X COSM912292 c.793C>T p.R265W Substitution - Missense 1:77729877-77729877 - TCGA-AM-5820-01 COSM3751392 c.543C>A p.A181A Substitution - coding silent 1:77736060-77736060 - TCGA-EE-A2MD-06 COSM3492483 c.1831-1G>A p.? Unknown 1:77718048-77718048 - CSCC-27-T COSM4525618 c.1341G>A p.W447* Substitution - Nonsense 1:77725650-77725650 - TCGA-EJ-7786-01 COSM1470338 c.936C>T p.S312S Substitution - coding silent 1:77728587-77728587 - HCT8 COSM4634288 c.1420G>A p.V474I Substitution - Missense 1:77723393-77723393 - T2269 COSM4739769 c.2802A>C p.K934N Substitution - Missense 1:77697344-77697344 - TCGA-BR-7901-01 COSM4009969 c.493G>A p.V165I Substitution - Missense 1:77736110-77736110 - TCGA-PJ-A5Z9-01 COSM3985228 c.858A>G p.E286E Substitution - coding silent 1:77728665-77728665 - HCC138T COSM1602682 c.2163delA p.E722fs*9 Deletion - Frameshift 1:77714759-77714759 - TCGA-B5-A11Q-01 COSM912288 c.1378G>A p.A460T Substitution - Missense 1:77723435-77723435 - TCGA-B5-A0JY-01 COSM912290 c.1127A>C p.N376T Substitution - Missense 1:77728396-77728396 - CHC1747T COSM4788061 c.307C>G p.L103V Substitution - Missense 1:77739402-77739402 - TCGA-B5-A0JY-01 COSM912293 c.358G>T p.E120* Substitution - Nonsense 1:77739351-77739351 - TCGA-AG-A002-01 COSM264606 c.70A>G p.K24E Substitution - Missense 1:77741721-77741721 - TCGA-D1-A163-01 COSM912286 c.1960A>G p.I654V Substitution - Missense 1:77717918-77717918 - TCGA-23-1124-01 COSM76970 c.2273C>G p.P758R Substitution - Missense 1:77714649-77714649 - XHDG04 COSM4767981 c.1372C>G p.Q458E Substitution - Missense 1:77723441-77723441 - LUAD-YINHD COSM350118 c.1598G>T p.C533F Substitution - Missense 1:77722081-77722081 - HCC33T COSM1602685 c.947T>C p.V316A Substitution - Missense 1:77728576-77728576 - TCGA-CJ-5676-01 COSM464962 c.1467T>C p.C489C Substitution - coding silent 1:77723346-77723346 - TCGA-EE-A2GC-06 COSM3492486 c.1275C>T p.I425I Substitution - coding silent 1:77725716-77725716 - T32 COSM5343069 c.2011+2T>C p.? Unknown 1:77717865-77717865 - 0014_CRUK_PC_0014_T1_DNA COSM5422790 c.42+4A>T p.? Unknown 1:77745417-77745417 - ESCC_158 COSM5646526 c.388C>T p.Q130* Substitution - Nonsense 1:77739321-77739321 - T3092 COSM4739771 c.381A>G p.L127L Substitution - coding silent 1:77739328-77739328 - TCGA-AA-A010-01 COSM286398 c.1312G>A p.A438T Substitution - Missense 1:77725679-77725679 - CSCC-11-T COSM4570251 c.2492T>A p.F831Y Substitution - Missense 1:77711754-77711754 - 260211 COSM3725502 c.1240G>T p.D414Y Substitution - Missense 1:77725751-77725751 - TCGA-C5-A1BQ-01 COSM4841817 c.968C>T p.S323F Substitution - Missense 1:77728555-77728555 - TCGA-G4-6586-01 COSM5828011 c.2309-3delT p.? Unknown 1:77713284-77713284 - tumor_4159170 COSM1160938 c.2554A>G p.M852V Substitution - Missense 1:77701417-77701417 - TCGA-BR-4184-01 COSM4009966 c.1602C>T p.G534G Substitution - coding silent 1:77722077-77722077 - 587376 COSM1232032 c.861G>T p.L287F Substitution - Missense 1:77728662-77728662 - TCGA-21-1076-01 COSM682044 c.2011A>G p.S671G Substitution - Missense 1:77717867-77717867 - TCGA-B5-A11E-01 COSM912289 c.1163T>C p.I388T Substitution - Missense 1:77728360-77728360 - HCC33 COSM1602685 c.947T>C p.V316A Substitution - Missense 1:77728576-77728576 - PCSI_0083_Pa_P_526 COSM912292 c.793C>T p.R265W Substitution - Missense 1:77729877-77729877 - HCC59T COSM3706036 c.1626G>T p.W542C Substitution - Missense 1:77722053-77722053 - TCGA-A2-A0CX-01 COSM426707 c.1236C>G p.I412M Substitution - Missense 1:77725755-77725755 - B86 COSM1748609 c.1887C>T p.I629I Substitution - coding silent 1:77717991-77717991 - TCGA-AC-A23C-01 COSM3805909 c.318C>A p.N106K Substitution - Missense 1:77739391-77739391 - MD-146 COSM303531 c.1647T>A p.Y549* Substitution - Nonsense 1:77722032-77722032 - TCGA-66-2780-01 COSM682045 c.2481A>G p.E827E Substitution - coding silent 1:77711765-77711765 - 2334199 COSM324220 c.1598G>A p.C533Y Substitution - Missense 1:77722081-77722081 - TCGA-BR-8487-01 COSM4009962 c.2427T>C p.I809I Substitution - coding silent 1:77711819-77711819 - MD-144 COSM303530 c.2149G>A p.E717K Substitution - Missense 1:77714773-77714773 - S00539 COSM316408 c.292-2A>T p.? Unknown 1:77739419-77739419 - TCGA-G4-6628-01 COSM5828010 c.2309-3_2309-2insT p.? Unknown 1:77713283-77713284 - TCGA-61-1901-01 COSM1320894 c.572G>T p.G191V Substitution - Missense 1:77734392-77734392 - CSCC-19-T COSM4474251 c.1907C>G p.P636R Substitution - Missense 1:77717971-77717971 - TCGA-AX-A05Z-01 COSM196716 c.107G>A p.R36Q Substitution - Missense 1:77741684-77741684 - SJRHB059R COSM3737676 c.1566T>A p.S522R Substitution - Missense 1:77722113-77722113 - HT115 COSM2242448 c.1251G>A p.S417S Substitution - coding silent 1:77725740-77725740 - TCGA-EA-A3QD-01 COSM4821775 c.2010T>G p.S670R Substitution - Missense 1:77717868-77717868 - TCGA-18-3409-01 COSM682043 c.1825C>T p.P609S Substitution - Missense 1:77718601-77718601 - LUAD-NYU284 COSM372527 c.1160C>G p.S387C Substitution - Missense 1:77728363-77728363 - TCGA-BS-A0TC-01 COSM278039 c.1138G>A p.E380K Substitution - Missense 1:77728385-77728385 - YUKIL COSM1687947 c.2048A>G p.N683S Substitution - Missense 1:77715832-77715832 - 587376 COSM1232031 c.1391G>T p.R464I Substitution - Missense 1:77723422-77723422 - TCGA-BR-6452-01 COSM4009971 c.77A>G p.E26G Substitution - Missense 1:77741714-77741714 - TLE54 COSM4167698 c.707T>C p.M236T Substitution - Missense 1:77730642-77730642 - HCC38 COSM1602683 c.2138+10A>G p.? Unknown 1:77715732-77715732 - TCGA-D1-A17Q-01 COSM912284 c.2039A>G p.N680S Substitution - Missense 1:77715841-77715841 - CSCC-6-T COSM4467957 c.1517C>T p.S506F Substitution - Missense 1:77722162-77722162 - TCGA-AP-A056-01 COSM912287 c.1447A>C p.I483L Substitution - Missense 1:77723366-77723366 - TCGA-EE-A29G-06 COSM2242447 c.1310C>T p.S437L Substitution - Missense 1:77725681-77725681 - HCC38T COSM1602683 c.2138+10A>G p.? Unknown 1:77715732-77715732 - 77 COSM5014126 c.2615C>G p.P872R Substitution - Missense 1:77697919-77697919 - 2250178 COSM5030266 c.484C>A p.L162M Substitution - Missense 1:77736119-77736119 - TCGA-F5-6465-01 COSM1561059 c.49C>T p.P17S Substitution - Missense 1:77741742-77741742 - 386 COSM4427129 c.2285A>T p.N762I Substitution - Missense 1:77714637-77714637 - TCGA-66-2795-01 COSM682041 c.125T>G p.L42W Substitution - Missense 1:77741666-77741666 - 74 COSM4778249 c.1175T>G p.V392G Substitution - Missense 1:77728348-77728348 - TCGA-AD-6895-01 COSM1344400 c.1439A>T p.D480V Substitution - Missense 1:77723374-77723374 - TCGA-AA-3966-01 COSM273448 c.1551G>T p.K517N Substitution - Missense 1:77722128-77722128 - TCGA-B0-4833-01 COSM3361007 c.1892C>G p.T631S Substitution - Missense 1:77717986-77717986 - CHC909T COSM4806203 c.1830G>A p.E610E Substitution - coding silent 1:77718596-77718596 - TCGA-AP-A056-01 COSM196716 c.107G>A p.R36Q Substitution - Missense 1:77741684-77741684 - TCGA-B0-4818-01 COSM464963 c.1394A>G p.K465R Substitution - Missense 1:77723419-77723419 - TCGA-D8-A1XK-01 COSM3805908 c.2028C>A p.A676A Substitution - coding silent 1:77715852-77715852 - CSCC-31-T COSM4476014 c.2034C>T p.C678C Substitution - coding silent 1:77715846-77715846 - S00841 COSM5661788 c.615T>C p.N205N Substitution - coding silent 1:77734349-77734349 - TCGA-G2-A2ES-01 COSM1296709 c.2464A>T p.K822* Substitution - Nonsense 1:77711782-77711782 - TCGA-BR-6452-01 COSM4009970 c.300G>A p.K100K Substitution - coding silent 1:77739409-77739409 - 86504 COSM95460 c.1219A>G p.R407G Substitution - Missense 1:77728304-77728304 - TCGA-D9-A6EA-06 COSM4397901 c.1384C>T p.P462S Substitution - Missense 1:77723429-77723429 - TCGA-B5-A11E-01 COSM912283 c.2208C>T p.S736S Substitution - coding silent 1:77714714-77714714 - S02378 COSM5697406 c.229-2A>G p.? Unknown 1:77740941-77740941 - pfg008T COSM1639972 c.1580T>C p.I527T Substitution - Missense 1:77722099-77722099 - PCSI_0083_Pa_P COSM912292 c.793C>T p.R265W Substitution - Missense 1:77729877-77729877 - SJHGG073_A COSM4971428 c.1656-2delA p.? Unknown 1:77721927-77721927 - TCGA-B5-A11E-01 COSM912282 c.2781T>C p.D927D Substitution - coding silent 1:77697365-77697365 - RK170_C01 COSM1627196 c.2384A>G p.Y795C Substitution - Missense 1:77713206-77713206 - 587316 COSM1232029 c.1855T>G p.F619V Substitution - Missense 1:77718023-77718023 - TCGA-AA-A010-01 COSM286397 c.2700A>C p.E900D Substitution - Missense 1:77697446-77697446 - T2269 COSM4739770 c.2341G>T p.D781Y Substitution - Missense 1:77713249-77713249 - 76 COSM5014127 c.856G>C p.E286Q Substitution - Missense 1:77728667-77728667 - pfg008T COSM1639972 c.1580T>C p.I527T Substitution - Missense 1:77722099-77722099 - TCGA-66-2782-01 COSM682042 c.1024G>C p.D342H Substitution - Missense 1:77728499-77728499 - TCGA-D1-A17M-01 COSM912291 c.1042A>G p.M348V Substitution - Missense 1:77728481-77728481 - PT14_1 COSM5896591 c.2287G>T p.D763Y Substitution - Missense 1:77714635-77714635 - BD72T COSM5511525 c.1401G>A p.Q467Q Substitution - coding silent 1:77723412-77723412 - 587376 COSM1232033 c.632A>C p.Q211P Substitution - Missense 1:77730717-77730717 - DLD1 COSM2242437 c.1609T>C p.Y537H Substitution - Missense 1:77722070-77722070 - 587376 COSM1232030 c.2126T>C p.V709A Substitution - Missense 1:77715754-77715754 - TCGA-BR-4368-01 COSM4009965 c.1672G>A p.V558I Substitution - Missense 1:77721909-77721909 - TCGA-BR-6452-01 COSM4009961 c.2613T>C p.G871G Substitution - coding silent 1:77697921-77697921 - TCGA-AP-A05A-01 COSM196716 c.107G>A p.R36Q Substitution - Missense 1:77741684-77741684 - DN1121A COSM5787142 c.837A>G p.L279L Substitution - coding silent 1:77728686-77728686 - ESCC_18 COSM5626015 c.2051A>G p.N684S Substitution - Missense 1:77715829-77715829 - SNU-175 COSM2242446 c.1311G>A p.S437S Substitution - coding silent 1:77725680-77725680 - P02-1562 COSM248245 c.2223T>C p.Y741Y Substitution - coding silent 1:77714699-77714699 - 100960 COSM95461 c.1151A>G p.D384G Substitution - Missense 1:77728372-77728372 - CSCC-57-T COSM4539659 c.2718G>A p.Q906Q Substitution - coding silent 1:77697428-77697428 - TCGA-F5-6814-01 COSM3419478 c.2411T>C p.V804A Substitution - Missense 1:77711835-77711835 - TCGA-AG-3892-01 COSM258337 c.950A>C p.D317A Substitution - Missense 1:77728573-77728573 - BD236T COSM5518174 c.2125G>A p.V709I Substitution - Missense 1:77715755-77715755 - TCGA-BT-A0YX-01 COSM414787 c.2616T>C p.P872P Substitution - coding silent 1:77697918-77697918 - P01-28 COSM248244 c.1577C>G p.S526C Substitution - Missense 1:77722102-77722102 - B86-Tumor COSM1748609 c.1887C>T p.I629I Substitution - coding silent 1:77717991-77717991 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.743324 1p31.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L42W c.125T>G 1 78207351 LUSC A G Missense p.I527T c.1580T>C 1 78187784 STAD A G Missense p.M236T c.707T>C 1 78196327 ALL A G Synonymous p.P872P c.2616T>C 1 78163603 BLCA A - IntronicDeletion . c.1483-163delT 1 78188044 CM A T IntronicSNV . c.1483-79T>A 1 78187960 CM A T Missense p.I832N c.2495T>A 1 78177436 CM C A Missense p.D63Y c.187G>T 1 78207102 LUAD C A Missense p.G266V c.797G>T 1 78195558 LUAD C A Missense p.Q269H c.807G>T 1 78195548 PRAD C A Missense p.R329I c.986G>T 1 78194222 LUAD C A Missense p.S118I c.353G>T 1 78205041 LUAD C A Missense p.V566L c.1696G>T 1 78187570 CM C A SpliceAcceptorSNV . c.1370-1G>T 1 78189129 LUAD C A Synonymous p.R265R c.795G>T 1 78195560 SCLC C - Frameshift p.D43Ifs*6 c.127delG 1 78207349 LUAD C G 3-UTRSNV . c.2826+10G>C 1 78162995 NSCLC C G Missense p.D342H c.1024G>C 1 78194184 LUSC C G Missense p.E696Q c.2086G>C 1 78181479 BRCA C T Missense p.A34T c.100G>A 1 78207376 LUSC C T Missense p.A460T c.1378G>A 1 78189120 UCEC C T Missense p.C278Y c.833G>A 1 78194375 HNSC C T Missense p.C533Y c.1598G>A 1 78187766 SCLC C T Missense p.E380K c.1138G>A 1 78194070 UCEC C T Missense p.E857K c.2569G>A 1 78167087 LUAD C T Missense p.E899K c.2695G>A 1 78163136 HNSC C T Missense p.E938K c.2812G>A 1 78163019 LUSC C T Missense p.G23E c.68G>A 1 78207408 HNSC C T Missense p.R36Q c.107G>A 1 78207369 UCEC C T Missense p.V558I c.1672G>A 1 78187594 STAD C T SpliceAcceptorSNV . c.1831-1G>A 1 78183733 CM C T Synonymous p.Q488Q c.1464G>A 1 78189034 STAD G A IntronicSNV . c.2671+72C>T 1 78163476 ESCA G A Missense p.A652V c.1955C>T 1 78183608 CM G A Missense p.L738F c.2212C>T 1 78180395 CM G A Missense p.P29L c.86C>T 1 78207390 CM G A Missense p.P636L c.1907C>T 1 78183656 STAD G A Missense p.P926L c.2777C>T 1 78163054 CM G A Missense p.S437L c.1310C>T 1 78191366 CM G A Missense p.S443L c.1328C>T 1 78191348 CM G A Missense p.S556L c.1667C>T 1 78187599 BLCA G A Nonsense p.R221* c.661C>T 1 78196373 CM G A Nonsense p.R744* c.2230C>T 1 78180377 CM G A Synonymous p.I425I c.1275C>T 1 78191401 CM G A Synonymous p.S312S c.936C>T 1 78194272 PRAD G C Missense p.F576L c.1728C>G 1 78187538 BRCA G C Missense p.H140D c.418C>G 1 78204976 HNSC G C Missense p.I412M c.1236C>G 1 78191440 BRCA G C Missense p.P758R c.2273C>G 1 78180334 OV G C Missense p.Q148E c.442C>G 1 78204952 CM G C Missense p.Q653E c.1957C>G 1 78183606 HNSC G C Missense p.T631S c.1892C>G 1 78183671 RCCC G - Frameshift p.Q148Rfs*11 c.442delC 1 78204952 LUAD T A Missense p.N344I c.1031A>T 1 78194177 BRCA T A Missense p.N704I c.2111A>T 1 78181454 LUAD T A Nonsense p.K822* c.2464A>T 1 78177467 BLCA T A SpliceAcceptorSNV . c.292-2A>T 1 78205104 SCLC T C IntronicSNV . c.1750+218A>G 1 78187298 HC T C Missense p.M348V c.1042A>G 1 78194166 UCEC T C Missense p.M852V c.2554A>G 1 78167102 DLBCL T C Missense p.N155D c.463A>G 1 78201825 COREAD T C Missense p.S671G c.2011A>G 1 78183552 LUSC T C Missense p.T263A c.787A>G 1 78195568 RCCC T C Synonymous p.E827E c.2481A>G 1 78177450 LUSC T C Synonymous p.Q570Q c.1710A>G 1 78187556 LUAD T - Frameshift p.E841Rfs*22 c.2520delA 1 78167136 RCCC T - Frameshift p.I142Yfs*17 c.424delA 1 78204970 STAD T - IntronicDeletion . c.2671+188delG 1 78163360 HC