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 ACC 7 139791751 139791751 + Missense_Mutation SNP A A C TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr7:139791751A>C c.2584T>G c.(2584-2586)Tca>Gca p.S862A ACC 7 139796487 139796487 + Missense_Mutation SNP T T A TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr7:139796487T>A c.2242A>T c.(2242-2244)Acg>Tcg p.T748S ACC 7 139810956 139810956 + Missense_Mutation SNP G G A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr7:139810956G>A c.1367C>T c.(1366-1368)cCa>cTa p.P456L ACC 7 139818942 139818942 + Missense_Mutation SNP A A G TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr7:139818942A>G c.1217T>C c.(1216-1218)gTa>gCa p.V406A BLCA 7 139791700 139791700 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 g.chr7:139791700C>T c.2635G>A c.(2635-2637)Gaa>Aaa p.E879K BLCA 7 139796750 139796750 + Missense_Mutation SNP T T C TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 g.chr7:139796750T>C c.2114A>G c.(2113-2115)aAc>aGc p.N705S BLCA 7 139799789 139799789 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr7:139799789T>C c.1673A>G c.(1672-1674)aAc>aGc p.N558S BLCA 7 139801781 139801781 + Silent SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr7:139801781G>C c.1608C>G c.(1606-1608)ctC>ctG p.L536L BLCA 7 139801902 139801902 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr7:139801902C>T c.1487G>A c.(1486-1488)cGa>cAa p.R496Q BLCA 7 139819006 139819006 + Missense_Mutation SNP C C T TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr7:139819006C>T c.1153G>A c.(1153-1155)Gag>Aag p.E385K BLCA 7 139824427 139824427 + Missense_Mutation SNP G G A TCGA-K4-A5RJ-01A-11D-A289-08 TCGA-K4-A5RJ-10A-01D-A289-08 g.chr7:139824427G>A c.1045C>T c.(1045-1047)Cct>Tct p.P349S BLCA 7 139826545 139826545 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr7:139826545G>C c.780C>G c.(778-780)gtC>gtG p.V260V BLCA 7 139829356 139829356 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 g.chr7:139829356C>G c.496G>C c.(496-498)Gat>Cat p.D166H BLCA 7 139838906 139838906 + Splice_Site SNP C C G TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr7:139838906C>G c.279G>C c.(277-279)ttG>ttC p.L93F BLCA 7 139838913 139838913 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr7:139838913G>T c.272C>A c.(271-273)tCc>tAc p.S91Y BLCA 7 139838962 139838962 + Missense_Mutation SNP C C A TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr7:139838962C>A c.223G>T c.(223-225)Gtt>Ttt p.V75F BRCA 7 139796372 139796372 + Missense_Mutation SNP T T G TCGA-AO-A0JL-01A-11W-A071-09 TCGA-AO-A0JL-10A-01W-A071-09 g.chr7:139796372T>G c.2357A>C c.(2356-2358)gAt>gCt p.D786A BRCA 7 139799810 139799810 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr7:139799810G>C c.1652C>G c.(1651-1653)tCt>tGt p.S551C BRCA 7 139801836 139801836 + Missense_Mutation SNP T T C TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 g.chr7:139801836T>C c.1553A>G c.(1552-1554)aAt>aGt p.N518S BRCA 7 139824558 139824558 + Frame_Shift_Del DEL T T - TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 g.chr7:139824558delT c.914delA c.(913-915)aagfs p.K305fs CESC 7 139791674 139791674 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 g.chr7:139791674G>A c.2661C>T c.(2659-2661)ttC>ttT p.F887F CESC 7 139797431 139797431 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 g.chr7:139797431G>T c.1930C>A c.(1930-1932)Cgt>Agt p.R644S CESC 7 139810954 139810954 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 g.chr7:139810954C>G c.1369G>C c.(1369-1371)Gac>Cac p.D457H COAD 7 139790915 139790915 + Silent SNP G G A TCGA-AD-6548-01A-11D-1835-10 TCGA-AD-6548-10A-01D-1835-10 g.chr7:139790915G>A c.2805C>T c.(2803-2805)ggC>ggT p.G935G COAD 7 139790972 139790972 + Frame_Shift_Del DEL T T - TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr7:139790972delT c.2748delA c.(2746-2748)aaafs p.K916fs COAD 7 139796807 139796807 + Missense_Mutation SNP T T C TCGA-A6-6651-01A-21D-1835-10 TCGA-A6-6651-10A-01D-1835-10 g.chr7:139796807T>C c.2057A>G c.(2056-2058)gAt>gGt p.D686G COAD 7 139796807 139796807 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:139796807T>C c.2057A>G c.(2056-2058)gAt>gGt p.D686G COAD 7 139798694 139798694 + Missense_Mutation SNP G G C TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr7:139798694G>C c.1903C>G c.(1903-1905)Caa>Gaa p.Q635E COAD 7 139813312 139813312 + Missense_Mutation SNP T T A TCGA-AD-6890-01A-11D-1924-10 TCGA-AD-6890-10A-01D-1924-10 g.chr7:139813312T>A c.1317A>T c.(1315-1317)ttA>ttT p.L439F COAD 7 139819000 139819000 + Missense_Mutation SNP T T C TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr7:139819000T>C c.1159A>G c.(1159-1161)Agg>Ggg p.R387G COAD 7 139824536 139824536 + Silent SNP T T A TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr7:139824536T>A c.936A>T c.(934-936)gcA>gcT p.A312A COAD 7 139826594 139826594 + Missense_Mutation SNP A A G TCGA-CM-6165-01A-11D-1650-10 TCGA-CM-6165-10A-01D-1650-10 g.chr7:139826594A>G c.731T>C c.(730-732)aTa>aCa p.I244T COAD 7 139829300 139829300 + Silent SNP A A G TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr7:139829300A>G c.552T>C c.(550-552)cgT>cgC p.R184R COAD 7 139833448 139833448 + Frame_Shift_Del DEL T T - TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr7:139833448delT c.289delA c.(289-291)aggfs p.R98fs COAD 7 139876560 139876560 + Missense_Mutation SNP C C A TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr7:139876560C>A c.178G>T c.(178-180)Gac>Tac p.D60Y COADREAD 7 139790915 139790915 + Silent SNP G G A TCGA-AD-6548-01A-11D-1835-10 TCGA-AD-6548-10A-01D-1835-10 g.chr7:139790915G>A c.2805C>T c.(2803-2805)ggC>ggT p.G935G COADREAD 7 139790922 139790922 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:139790922C>A c.2798G>T c.(2797-2799)aGa>aTa p.R933I COADREAD 7 139790972 139790972 + Frame_Shift_Del DEL T T - TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr7:139790972delT c.2748delA c.(2746-2748)aaafs p.K916fs COADREAD 7 139796807 139796807 + Missense_Mutation SNP T T C TCGA-A6-6651-01A-21D-1835-10 TCGA-A6-6651-10A-01D-1835-10 g.chr7:139796807T>C c.2057A>G c.(2056-2058)gAt>gGt p.D686G COADREAD 7 139796807 139796807 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:139796807T>C c.2057A>G c.(2056-2058)gAt>gGt p.D686G COADREAD 7 139798694 139798694 + Missense_Mutation SNP G G C TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr7:139798694G>C c.1903C>G c.(1903-1905)Caa>Gaa p.Q635E COADREAD 7 139813312 139813312 + Missense_Mutation SNP T T A TCGA-AD-6890-01A-11D-1924-10 TCGA-AD-6890-10A-01D-1924-10 g.chr7:139813312T>A c.1317A>T c.(1315-1317)ttA>ttT p.L439F COADREAD 7 139819000 139819000 + Missense_Mutation SNP T T C TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr7:139819000T>C c.1159A>G c.(1159-1161)Agg>Ggg p.R387G COADREAD 7 139824536 139824536 + Silent SNP T T A TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr7:139824536T>A c.936A>T c.(934-936)gcA>gcT p.A312A COADREAD 7 139826594 139826594 + Missense_Mutation SNP A A G TCGA-CM-6165-01A-11D-1650-10 TCGA-CM-6165-10A-01D-1650-10 g.chr7:139826594A>G c.731T>C c.(730-732)aTa>aCa p.I244T COADREAD 7 139829300 139829300 + Silent SNP A A G TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr7:139829300A>G c.552T>C c.(550-552)cgT>cgC p.R184R COADREAD 7 139833448 139833448 + Frame_Shift_Del DEL T T - TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr7:139833448delT c.289delA c.(289-291)aggfs p.R98fs COADREAD 7 139876560 139876560 + Missense_Mutation SNP C C A TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr7:139876560C>A c.178G>T c.(178-180)Gac>Tac p.D60Y ESCA 7 139791832 139791832 + Missense_Mutation SNP C C G TCGA-LN-A4A9-01A-11D-A28B-09 TCGA-LN-A4A9-10A-01D-A28E-09 g.chr7:139791832C>G c.2503G>C c.(2503-2505)Gaa>Caa p.E835Q GBM 7 139790907 139790907 + Missense_Mutation SNP C C T TCGA-06-0237-01A-02D-1491-08 TCGA-06-0237-10A-01D-1491-08 g.chr7:139790907C>T c.2813G>A c.(2812-2814)cGt>cAt p.R938H GBM 7 139824534 139824534 + Missense_Mutation SNP C C T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 g.chr7:139824534C>T c.938G>A c.(937-939)cGt>cAt p.R313H GBM 7 139824534 139824534 + Missense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 g.chr7:139824534C>T c.938G>A c.(937-939)cGt>cAt p.R313H GBM 7 139826573 139826573 + Missense_Mutation SNP A A T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 g.chr7:139826573A>T c.752T>A c.(751-753)gTg>gAg p.V251E GBM 7 139833358 139833358 + Missense_Mutation SNP G G A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 g.chr7:139833358G>A c.379C>T c.(379-381)Cgc>Tgc p.R127C GBMLGG 7 139790907 139790907 + Missense_Mutation SNP C C T TCGA-06-0237-01A-02D-1491-08 TCGA-06-0237-10A-01D-1491-08 g.chr7:139790907C>T c.2813G>A c.(2812-2814)cGt>cAt p.R938H GBMLGG 7 139796538 139796538 + Nonsense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:139796538C>A c.2191G>T c.(2191-2193)Gag>Tag p.E731* GBMLGG 7 139810958 139810958 + Missense_Mutation SNP A A C TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 g.chr7:139810958A>C c.1365T>G c.(1363-1365)atT>atG p.I455M GBMLGG 7 139824520 139824520 + Missense_Mutation SNP T T G TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 g.chr7:139824520T>G c.952A>C c.(952-954)Agt>Cgt p.S318R GBMLGG 7 139824534 139824534 + Missense_Mutation SNP C C T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 g.chr7:139824534C>T c.938G>A c.(937-939)cGt>cAt p.R313H GBMLGG 7 139824534 139824534 + Missense_Mutation SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 g.chr7:139824534C>T c.938G>A c.(937-939)cGt>cAt p.R313H GBMLGG 7 139826573 139826573 + Missense_Mutation SNP A A T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 g.chr7:139826573A>T c.752T>A c.(751-753)gTg>gAg p.V251E GBMLGG 7 139833358 139833358 + Missense_Mutation SNP G G A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 g.chr7:139833358G>A c.379C>T c.(379-381)Cgc>Tgc p.R127C HNSC 7 139796488 139796488 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 g.chr7:139796488G>A c.2241C>T c.(2239-2241)tcC>tcT p.S747S HNSC 7 139796841 139796841 + Missense_Mutation SNP T T C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 g.chr7:139796841T>C c.2023A>G c.(2023-2025)Atc>Gtc p.I675V HNSC 7 139798694 139798694 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr7:139798694G>C c.1903C>G c.(1903-1905)Caa>Gaa p.Q635E HNSC 7 139801957 139801957 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 g.chr7:139801957C>T c.1432G>A c.(1432-1434)Gaa>Aaa p.E478K HNSC 7 139810963 139810964 + Frame_Shift_Ins INS - - A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 g.chr7:139810963_139810964insA c.1359_1360insT c.(1357-1362)tttgaafs p.E454fs HNSC 7 139827294 139827294 + Missense_Mutation SNP G G A TCGA-BB-4223-01A-01D-1434-08 TCGA-BB-4223-10A-01D-1434-08 g.chr7:139827294G>A c.649C>T c.(649-651)Cct>Tct p.P217S HNSC 7 139829433 139829433 + Missense_Mutation SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 g.chr7:139829433T>C c.419A>G c.(418-420)aAg>aGg p.K140R HNSC 7 139833366 139833366 + Missense_Mutation SNP T T A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 g.chr7:139833366T>A c.371A>T c.(370-372)aAg>aTg p.K124M HNSC 7 139833448 139833448 + Frame_Shift_Del DEL T T - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr7:139833448delT c.289delA c.(289-291)aggfs p.R98fs HNSC 7 139876567 139876567 + Missense_Mutation SNP G G C TCGA-F7-8298-01A-11D-2394-08 TCGA-F7-8298-10A-01D-2394-08 g.chr7:139876567G>C c.171C>G c.(169-171)atC>atG p.I57M KIPAN 7 139798703 139798703 + Frame_Shift_Del DEL C C - TCGA-CJ-4904-01A-02D-1429-08 TCGA-CJ-4904-11A-01D-1429-08 g.chr7:139798703delC c.1894delG c.(1894-1896)gaafs p.E633fs KIPAN 7 139818990 139818990 + Frame_Shift_Del DEL G G - TCGA-SX-A7SS-01A-11D-A35Z-10 TCGA-SX-A7SS-10A-01D-A35Z-10 g.chr7:139818990delG c.1169delC c.(1168-1170)acafs p.T390fs KIPAN 7 139826594 139826594 + Missense_Mutation SNP A A G TCGA-B0-4694-01A-01D-1361-10 TCGA-B0-4694-11A-01D-1361-10 g.chr7:139826594A>G c.731T>C c.(730-732)aTa>aCa p.I244T KIRC 7 139798703 139798703 + Frame_Shift_Del DEL C C - TCGA-CJ-4904-01A-02D-1429-08 TCGA-CJ-4904-11A-01D-1429-08 g.chr7:139798703delC c.1894delG c.(1894-1896)gaafs p.E633fs KIRC 7 139826594 139826594 + Missense_Mutation SNP A A G TCGA-B0-4694-01A-01D-1361-10 TCGA-B0-4694-11A-01D-1361-10 g.chr7:139826594A>G c.731T>C c.(730-732)aTa>aCa p.I244T KIRP 7 139818990 139818990 + Frame_Shift_Del DEL G G - TCGA-SX-A7SS-01A-11D-A35Z-10 TCGA-SX-A7SS-10A-01D-A35Z-10 g.chr7:139818990delG c.1169delC c.(1168-1170)acafs p.T390fs LGG 7 139796538 139796538 + Nonsense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:139796538C>A c.2191G>T c.(2191-2193)Gag>Tag p.E731* LGG 7 139810958 139810958 + Missense_Mutation SNP A A C TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 g.chr7:139810958A>C c.1365T>G c.(1363-1365)atT>atG p.I455M LGG 7 139824520 139824520 + Missense_Mutation SNP T T G TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 g.chr7:139824520T>G c.952A>C c.(952-954)Agt>Cgt p.S318R LIHC 7 139791731 139791731 + Silent SNP C C T TCGA-CC-A3M9-01A-11D-A20W-10 TCGA-CC-A3M9-10A-01D-A20W-10 g.chr7:139791731C>T c.2604G>A c.(2602-2604)gcG>gcA p.A868A LIHC 7 139819020 139819020 + Splice_Site SNP C C A TCGA-BC-4073-01B-02D-A12Z-10 TCGA-BC-4073-10A-01D-A12Z-10 g.chr7:139819020C>A c.e9-1 LIHC 7 139824552 139824552 + Missense_Mutation SNP G G A TCGA-DD-A4NF-01A-11D-A27I-10 TCGA-DD-A4NF-10A-01D-A27I-10 g.chr7:139824552G>A c.920C>T c.(919-921)aCa>aTa p.T307I LIHC 7 139876582 139876582 + Missense_Mutation SNP C C G TCGA-DD-A4NN-01A-11D-A28X-10 TCGA-DD-A4NN-10A-01D-A28X-10 g.chr7:139876582C>G c.156G>C c.(154-156)atG>atC p.M52I LUAD 7 139791643 139791643 + Missense_Mutation SNP C C A TCGA-55-8085-01A-11D-2238-08 TCGA-55-8085-10A-01D-2238-08 g.chr7:139791643C>A c.2692G>T c.(2692-2694)Gca>Tca p.A898S LUAD 7 139791672 139791672 + Nonsense_Mutation SNP G G T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr7:139791672G>T c.2663C>A c.(2662-2664)tCg>tAg p.S888* LUAD 7 139820322 139820322 + Silent SNP G G T TCGA-MN-A4N5-01A-11D-A24P-08 TCGA-MN-A4N5-10A-01D-A24P-08 g.chr7:139820322G>T c.1059C>A c.(1057-1059)atC>atA p.I353I LUAD 7 139827360 139827360 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 g.chr7:139827360T>C c.583A>G c.(583-585)Att>Gtt p.I195V LUAD 7 139833402 139833402 + Missense_Mutation SNP G G A TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr7:139833402G>A c.335C>T c.(334-336)tCc>tTc p.S112F LUAD 7 139833408 139833408 + Missense_Mutation SNP T T A TCGA-17-Z010-01A-01W-0746-08 TCGA-17-Z010-11A-01W-0746-08 g.chr7:139833408T>A c.329A>T c.(328-330)gAt>gTt p.D110V LUAD 7 139838949 139838949 + Frame_Shift_Del DEL A A - TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 g.chr7:139838949delA c.236delT c.(235-237)ctgfs p.L79fs LUSC 7 139791688 139791688 + Missense_Mutation SNP C C T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 g.chr7:139791688C>T c.2647G>A c.(2647-2649)Ggt>Agt p.G883S LUSC 7 139793879 139793879 + Missense_Mutation SNP C C G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 g.chr7:139793879C>G c.2434G>C c.(2434-2436)Gat>Cat p.D812H LUSC 7 139826529 139826529 + Missense_Mutation SNP C C T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 g.chr7:139826529C>T c.796G>A c.(796-798)Gtt>Att p.V266I LUSC 7 139826556 139826556 + Missense_Mutation SNP C C G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr7:139826556C>G c.769G>C c.(769-771)Gat>Cat p.D257H OV 7 139796808 139796808 + Missense_Mutation SNP C C T TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 g.chr7:139796808C>T c.2056G>A c.(2056-2058)Gat>Aat p.D686N PAAD 7 139818933 139818933 + Frame_Shift_Del DEL T T - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 g.chr7:139818933delT c.1226delA c.(1225-1227)aacfs p.N409fs PAAD 7 139829450 139829450 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:139829450G>A c.402C>T c.(400-402)gcC>gcT p.A134A PRAD 7 139790982 139790982 + Missense_Mutation SNP C C T TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 g.chr7:139790982C>T c.2738G>A c.(2737-2739)cGt>cAt p.R913H PRAD 7 139810907 139810907 + Missense_Mutation SNP A A C TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 g.chr7:139810907A>C c.1416T>G c.(1414-1416)atT>atG p.I472M PRAD 7 139838977 139838977 + Frame_Shift_Del DEL C C - TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:139838977delC c.208delG c.(208-210)gaafs p.E71fs READ 7 139790922 139790922 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:139790922C>A c.2798G>T c.(2797-2799)aGa>aTa p.R933I SARC 7 139801930 139801930 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr7:139801930C>T c.1459G>A c.(1459-1461)Gga>Aga p.G487R SKCM 7 139790936 139790936 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr7:139790936G>A c.2784C>T c.(2782-2784)atC>atT p.I928I SKCM 7 139791650 139791650 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr7:139791650C>T c.2685G>A c.(2683-2685)aaG>aaA p.K895K SKCM 7 139791651 139791651 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr7:139791651T>A c.2684A>T c.(2683-2685)aAg>aTg p.K895M SKCM 7 139791834 139791834 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr7:139791834G>A c.2501C>T c.(2500-2502)tCa>tTa p.S834L SKCM 7 139793864 139793864 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr7:139793864G>A c.2449C>T c.(2449-2451)Cat>Tat p.H817Y SKCM 7 139796362 139796362 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr7:139796362C>T c.2367G>A c.(2365-2367)gtG>gtA p.V789V SKCM 7 139796708 139796708 + Missense_Mutation SNP G G A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 g.chr7:139796708G>A c.2156C>T c.(2155-2157)cCa>cTa p.P719L SKCM 7 139799824 139799824 + Splice_Site SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 g.chr7:139799824C>T c.e13-1 SKCM 7 139801761 139801761 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr7:139801761G>A c.1628C>T c.(1627-1629)cCa>cTa p.P543L SKCM 7 139801824 139801824 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:139801824G>A c.1565C>T c.(1564-1566)cCt>cTt p.P522L SKCM 7 139810919 139810919 + Silent SNP A A G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 g.chr7:139810919A>G c.1404T>C c.(1402-1404)ctT>ctC p.L468L SKCM 7 139818920 139818920 + Silent SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr7:139818920G>A c.1239C>T c.(1237-1239)acC>acT p.T413T SKCM 7 139818971 139818971 + Silent SNP G G A TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr7:139818971G>A c.1188C>T c.(1186-1188)ttC>ttT p.F396F SKCM 7 139819010 139819010 + Silent SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr7:139819010C>T c.1149G>A c.(1147-1149)gaG>gaA p.E383E SKCM 7 139820289 139820289 + Silent SNP A A C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr7:139820289A>C c.1092T>G c.(1090-1092)gcT>gcG p.A364A SKCM 7 139824437 139824437 + Silent SNP G G A TCGA-ER-A195-06A-11D-A196-08 TCGA-ER-A195-10A-01D-A198-08 g.chr7:139824437G>A c.1035C>T c.(1033-1035)acC>acT p.T345T SKCM 7 139824491 139824491 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr7:139824491G>A c.981C>T c.(979-981)ttC>ttT p.F327F SKCM 7 139826443 139826443 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr7:139826443G>A c.882C>T c.(880-882)gtC>gtT p.V294V SKCM 7 139826473 139826473 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:139826473G>A c.852C>T c.(850-852)gaC>gaT p.D284D SKCM 7 139827337 139827337 + Missense_Mutation SNP G G T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 g.chr7:139827337G>T c.606C>A c.(604-606)gaC>gaA p.D202E SKCM 7 139833371 139833371 + Silent SNP G G A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 g.chr7:139833371G>A c.366C>T c.(364-366)ttC>ttT p.F122F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 7 139799789 139799789 single base substitution T C exon_variant BLCA-US 7 139799789 139799789 single base substitution T C missense_variant N558S 1673A>G BLCA-US 7 139826545 139826545 single base substitution G C synonymous_variant V260V 780C>G BLCA-US 7 139838913 139838913 single base substitution G T missense_variant S91Y 272C>A BOCA-FR 7 139849094 139849094 single base substitution T C intron_variant BRCA-EU 7 139779973 139779973 single base substitution T A downstream_gene_variant BRCA-EU 7 139779986 139779986 single base substitution A T downstream_gene_variant BRCA-EU 7 139780580 139780580 single base substitution G T downstream_gene_variant BRCA-EU 7 139781695 139781695 single base substitution T A downstream_gene_variant BRCA-EU 7 139781884 139781884 single base substitution A G downstream_gene_variant BRCA-EU 7 139782390 139782390 single base substitution T A downstream_gene_variant BRCA-EU 7 139787594 139787594 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 139787594 139787594 single base substitution G A downstream_gene_variant BRCA-EU 7 139788457 139788457 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 139788457 139788457 single base substitution G C downstream_gene_variant BRCA-EU 7 139790229 139790229 single base substitution C G 3_prime_UTR_variant BRCA-EU 7 139790229 139790229 single base substitution C G downstream_gene_variant BRCA-EU 7 139790542 139790542 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 7 139790542 139790542 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 139791969 139791969 single base substitution G A downstream_gene_variant BRCA-EU 7 139791969 139791969 single base substitution G A intron_variant BRCA-EU 7 139791969 139791969 single base substitution G A upstream_gene_variant BRCA-EU 7 139793545 139793545 single base substitution G A downstream_gene_variant BRCA-EU 7 139793545 139793545 single base substitution G A intron_variant BRCA-EU 7 139793545 139793545 single base substitution G A upstream_gene_variant BRCA-EU 7 139794309 139794310 deletion of <=200bp GA - downstream_gene_variant BRCA-EU 7 139794309 139794310 deletion of <=200bp GA - intron_variant BRCA-EU 7 139794309 139794310 deletion of <=200bp GA - upstream_gene_variant BRCA-EU 7 139794310 139794310 single base substitution A G downstream_gene_variant BRCA-EU 7 139794310 139794310 single base substitution A G intron_variant BRCA-EU 7 139794310 139794310 single base substitution A G upstream_gene_variant BRCA-EU 7 139795547 139795547 single base substitution C A intron_variant BRCA-EU 7 139795547 139795547 single base substitution C A upstream_gene_variant BRCA-EU 7 139795580 139795580 single base substitution G C intron_variant BRCA-EU 7 139795580 139795580 single base substitution G C upstream_gene_variant BRCA-EU 7 139797435 139797435 insertion of <=200bp - A exon_variant BRCA-EU 7 139797435 139797435 insertion of <=200bp - A frameshift_variant F642F? BRCA-EU 7 139797722 139797722 single base substitution T C intron_variant BRCA-EU 7 139797777 139797777 single base substitution C G intron_variant BRCA-EU 7 139797835 139797835 single base substitution G A intron_variant BRCA-EU 7 139798310 139798310 single base substitution G C intron_variant BRCA-EU 7 139798696 139798696 single base substitution G A exon_variant BRCA-EU 7 139798696 139798696 single base substitution G A missense_variant S634F 1901C>T BRCA-EU 7 139799525 139799525 single base substitution C A intron_variant BRCA-EU 7 139799558 139799614 deletion of <=200bp AAACCATTCCCTGGCTGAGAAAAAACTGTCTTCCACAAAACCGGTCCCTGGTGCCAG - intron_variant BRCA-EU 7 139799614 139799614 single base substitution G C intron_variant BRCA-EU 7 139800712 139800712 single base substitution C A intron_variant BRCA-EU 7 139800767 139800767 single base substitution C T intron_variant BRCA-EU 7 139800809 139800809 single base substitution A T intron_variant BRCA-EU 7 139800970 139800970 single base substitution C G intron_variant BRCA-EU 7 139801351 139801351 single base substitution G T intron_variant BRCA-EU 7 139801771 139801771 single base substitution C G exon_variant BRCA-EU 7 139801771 139801771 single base substitution C G missense_variant E540Q 1618G>C BRCA-EU 7 139801835 139801835 single base substitution A G exon_variant BRCA-EU 7 139801835 139801835 single base substitution A G synonymous_variant N518N 1554T>C BRCA-EU 7 139801979 139801979 single base substitution G C intron_variant BRCA-EU 7 139802580 139802580 single base substitution G T intron_variant BRCA-EU 7 139802605 139802605 single base substitution G C intron_variant BRCA-EU 7 139803066 139803066 single base substitution C T intron_variant BRCA-EU 7 139804207 139804207 single base substitution C G intron_variant BRCA-EU 7 139805038 139805038 single base substitution G C intron_variant BRCA-EU 7 139805218 139805218 single base substitution G T intron_variant BRCA-EU 7 139805852 139805852 single base substitution T C intron_variant BRCA-EU 7 139806027 139806027 single base substitution G A intron_variant BRCA-EU 7 139806373 139806373 single base substitution C G intron_variant BRCA-EU 7 139808309 139808309 single base substitution C G intron_variant BRCA-EU 7 139808969 139808969 single base substitution A T intron_variant BRCA-EU 7 139810821 139810821 single base substitution G C intron_variant BRCA-EU 7 139811137 139811137 single base substitution T G intron_variant BRCA-EU 7 139811674 139811674 single base substitution A T intron_variant BRCA-EU 7 139811777 139811777 single base substitution G C intron_variant BRCA-EU 7 139812032 139812032 single base substitution T C intron_variant BRCA-EU 7 139812244 139812244 single base substitution T C intron_variant BRCA-EU 7 139812779 139812779 single base substitution G C intron_variant BRCA-EU 7 139814127 139814127 single base substitution C T intron_variant BRCA-EU 7 139816820 139816820 single base substitution G A intron_variant BRCA-EU 7 139817448 139817448 single base substitution G C intron_variant BRCA-EU 7 139817816 139817816 single base substitution C A intron_variant BRCA-EU 7 139819247 139819247 single base substitution G C intron_variant BRCA-EU 7 139819247 139819247 single base substitution G C upstream_gene_variant BRCA-EU 7 139819559 139819559 single base substitution A G intron_variant BRCA-EU 7 139819559 139819559 single base substitution A G upstream_gene_variant BRCA-EU 7 139821050 139821050 single base substitution C G intron_variant BRCA-EU 7 139821050 139821050 single base substitution C G upstream_gene_variant BRCA-EU 7 139824116 139824116 single base substitution A G intron_variant BRCA-EU 7 139824843 139824843 single base substitution G C intron_variant BRCA-EU 7 139828118 139828118 single base substitution C T intron_variant BRCA-EU 7 139829506 139829506 deletion of <=200bp A - intron_variant BRCA-EU 7 139830841 139830841 deletion of <=200bp T - intron_variant BRCA-EU 7 139831114 139831114 single base substitution T A intron_variant BRCA-EU 7 139831207 139831207 single base substitution C T intron_variant BRCA-EU 7 139831340 139831340 single base substitution T A intron_variant BRCA-EU 7 139831571 139831571 single base substitution T C intron_variant BRCA-EU 7 139833629 139833632 deletion of <=200bp ACAG - intron_variant BRCA-EU 7 139833948 139833948 single base substitution G C intron_variant BRCA-EU 7 139834093 139834093 single base substitution G C intron_variant BRCA-EU 7 139835968 139835968 single base substitution C G intron_variant BRCA-EU 7 139836080 139836080 single base substitution C G intron_variant BRCA-EU 7 139836817 139836817 single base substitution A G intron_variant BRCA-EU 7 139837217 139837217 single base substitution A G intron_variant BRCA-EU 7 139838698 139838698 single base substitution G C intron_variant BRCA-EU 7 139840694 139840694 single base substitution C A intron_variant BRCA-EU 7 139841609 139841609 single base substitution G A intron_variant BRCA-EU 7 139841638 139841638 single base substitution G A intron_variant BRCA-EU 7 139842747 139842747 single base substitution C G intron_variant BRCA-EU 7 139843680 139843680 single base substitution C T intron_variant BRCA-EU 7 139844007 139844007 single base substitution A C intron_variant BRCA-EU 7 139845088 139845088 single base substitution G A intron_variant BRCA-EU 7 139847220 139847220 single base substitution C G intron_variant BRCA-EU 7 139847306 139847306 single base substitution C G intron_variant BRCA-EU 7 139847459 139847459 single base substitution G A intron_variant BRCA-EU 7 139847525 139847525 single base substitution C G intron_variant BRCA-EU 7 139848415 139848415 single base substitution A C intron_variant BRCA-EU 7 139848650 139848650 single base substitution A C intron_variant BRCA-EU 7 139849623 139849623 single base substitution C G intron_variant BRCA-EU 7 139850230 139850230 single base substitution C A intron_variant BRCA-EU 7 139850499 139850499 single base substitution T C intron_variant BRCA-EU 7 139850885 139850885 single base substitution C T intron_variant BRCA-EU 7 139851787 139851787 single base substitution G C intron_variant BRCA-EU 7 139852671 139852671 deletion of <=200bp T - intron_variant BRCA-EU 7 139852899 139852899 single base substitution C T intron_variant BRCA-EU 7 139853097 139853097 single base substitution C T intron_variant BRCA-EU 7 139854156 139854156 single base substitution T C intron_variant BRCA-EU 7 139854336 139854336 single base substitution C T intron_variant BRCA-EU 7 139854549 139854549 deletion of <=200bp T - intron_variant BRCA-EU 7 139855112 139855112 single base substitution T C intron_variant BRCA-EU 7 139855341 139855341 single base substitution G A intron_variant BRCA-EU 7 139855713 139855713 single base substitution C A intron_variant BRCA-EU 7 139855728 139855728 single base substitution C T intron_variant BRCA-EU 7 139855987 139855987 deletion of <=200bp T - intron_variant BRCA-EU 7 139856645 139856645 single base substitution G C intron_variant BRCA-EU 7 139856739 139856739 single base substitution G A intron_variant BRCA-EU 7 139856949 139856949 single base substitution G A intron_variant BRCA-EU 7 139857422 139857422 single base substitution C G intron_variant BRCA-EU 7 139858301 139858301 single base substitution G T intron_variant BRCA-EU 7 139861362 139861362 deletion of <=200bp G - intron_variant BRCA-EU 7 139862686 139862686 single base substitution C T intron_variant BRCA-EU 7 139863764 139863764 single base substitution C A intron_variant BRCA-EU 7 139864068 139864068 deletion of <=200bp G - intron_variant BRCA-EU 7 139864211 139864211 single base substitution A T intron_variant BRCA-EU 7 139865340 139865340 single base substitution G C intron_variant BRCA-EU 7 139865463 139865463 single base substitution G A intron_variant BRCA-EU 7 139867388 139867388 single base substitution A C intron_variant BRCA-EU 7 139869722 139869722 single base substitution C A intron_variant BRCA-EU 7 139870544 139870544 single base substitution G T intron_variant BRCA-EU 7 139872313 139872313 single base substitution C T intron_variant BRCA-EU 7 139872606 139872606 single base substitution T G intron_variant BRCA-EU 7 139872988 139872988 single base substitution G C intron_variant BRCA-EU 7 139873470 139873470 single base substitution G A intron_variant BRCA-EU 7 139875481 139875481 single base substitution G C intron_variant BRCA-EU 7 139875773 139875773 single base substitution C A intron_variant BRCA-EU 7 139876641 139876641 single base substitution G A missense_variant P33S 97C>T BRCA-EU 7 139876878 139876878 single base substitution G C upstream_gene_variant BRCA-EU 7 139877299 139877299 single base substitution C T upstream_gene_variant BRCA-EU 7 139877454 139877454 single base substitution C G upstream_gene_variant BRCA-EU 7 139877633 139877633 single base substitution C T upstream_gene_variant BRCA-EU 7 139877873 139877873 single base substitution G A upstream_gene_variant BRCA-EU 7 139878301 139878301 single base substitution A C upstream_gene_variant BRCA-EU 7 139878937 139878937 single base substitution C T upstream_gene_variant BRCA-EU 7 139879883 139879883 single base substitution C T upstream_gene_variant BRCA-EU 7 139880232 139880232 single base substitution T G upstream_gene_variant BRCA-EU 7 139880361 139880361 single base substitution C T upstream_gene_variant BRCA-EU 7 139881275 139881275 single base substitution G C upstream_gene_variant BRCA-EU 7 139881330 139881330 single base substitution T G upstream_gene_variant BRCA-EU 7 139881420 139881420 single base substitution G C upstream_gene_variant BRCA-EU 7 139881818 139881818 single base substitution C A upstream_gene_variant BRCA-FR 7 139787594 139787594 single base substitution G A 3_prime_UTR_variant BRCA-FR 7 139787594 139787594 single base substitution G A downstream_gene_variant BRCA-FR 7 139798310 139798310 single base substitution G C intron_variant BRCA-FR 7 139798696 139798696 single base substitution G A exon_variant BRCA-FR 7 139798696 139798696 single base substitution G A missense_variant S634F 1901C>T BRCA-FR 7 139805409 139805409 single base substitution G T intron_variant BRCA-FR 7 139807785 139807785 single base substitution T C intron_variant BRCA-FR 7 139810821 139810821 single base substitution G C intron_variant BRCA-FR 7 139811777 139811777 single base substitution G C intron_variant BRCA-FR 7 139812779 139812779 single base substitution G C intron_variant BRCA-FR 7 139824843 139824843 single base substitution G C intron_variant BRCA-FR 7 139832601 139832601 single base substitution T C intron_variant BRCA-FR 7 139833948 139833948 single base substitution G C intron_variant BRCA-FR 7 139834093 139834093 single base substitution G C intron_variant BRCA-FR 7 139834666 139834666 single base substitution C A intron_variant BRCA-FR 7 139847220 139847220 single base substitution C G intron_variant BRCA-FR 7 139855713 139855713 single base substitution C A intron_variant BRCA-FR 7 139855728 139855728 single base substitution C T intron_variant BRCA-FR 7 139856580 139856580 single base substitution C T intron_variant BRCA-FR 7 139856949 139856949 single base substitution G A intron_variant BRCA-FR 7 139863764 139863764 single base substitution C A intron_variant BRCA-FR 7 139865340 139865340 single base substitution G C intron_variant BRCA-FR 7 139876641 139876641 single base substitution G A missense_variant P33S 97C>T BRCA-UK 7 139806794 139806794 single base substitution C G intron_variant BRCA-UK 7 139806968 139806968 single base substitution C G intron_variant BRCA-UK 7 139816820 139816820 single base substitution G A intron_variant BRCA-UK 7 139825219 139825219 single base substitution G A intron_variant BRCA-US 7 139796372 139796372 single base substitution T G exon_variant BRCA-US 7 139796372 139796372 single base substitution T G missense_variant D786A 2357A>C BRCA-US 7 139796372 139796372 single base substitution T G upstream_gene_variant BRCA-US 7 139799810 139799810 single base substitution G C exon_variant BRCA-US 7 139799810 139799810 single base substitution G C missense_variant S551C 1652C>G BRCA-US 7 139801836 139801836 single base substitution T C exon_variant BRCA-US 7 139801836 139801836 single base substitution T C missense_variant N518S 1553A>G BRCA-US 7 139824558 139824558 deletion of <=200bp T - frameshift_variant K305 BTCA-JP 7 139794031 139794031 single base substitution G A downstream_gene_variant BTCA-JP 7 139794031 139794031 single base substitution G A intron_variant BTCA-JP 7 139794031 139794031 single base substitution G A upstream_gene_variant BTCA-JP 7 139796649 139796649 single base substitution T C intron_variant BTCA-JP 7 139796649 139796649 single base substitution T C upstream_gene_variant BTCA-JP 7 139813250 139813264 deletion of <=200bp GTGGCATAAAACACA - intron_variant BTCA-JP 7 139826584 139826584 insertion of <=200bp - T frameshift_variant K247K? CESC-US 7 139791674 139791674 single base substitution G A 3_prime_UTR_variant CESC-US 7 139791674 139791674 single base substitution G A downstream_gene_variant CESC-US 7 139791674 139791674 single base substitution G A exon_variant CESC-US 7 139791674 139791674 single base substitution G A synonymous_variant F887F 2661C>T CESC-US 7 139797431 139797431 single base substitution G T exon_variant CESC-US 7 139797431 139797431 single base substitution G T missense_variant R644S 1930C>A CESC-US 7 139810954 139810954 single base substitution C G exon_variant CESC-US 7 139810954 139810954 single base substitution C G missense_variant D457H 1369G>C CESC-US 7 139878081 139878081 single base substitution T C upstream_gene_variant CLLE-ES 7 139782146 139782146 single base substitution A C downstream_gene_variant CLLE-ES 7 139800488 139800489 deletion of <=200bp AC - intron_variant CLLE-ES 7 139803358 139803358 single base substitution G A intron_variant CLLE-ES 7 139814158 139814158 single base substitution C T intron_variant CLLE-ES 7 139837983 139837983 single base substitution C T intron_variant CLLE-ES 7 139841253 139841253 single base substitution C A intron_variant CLLE-ES 7 139853626 139853626 single base substitution C G intron_variant CLLE-ES 7 139857804 139857804 single base substitution T A intron_variant CLLE-ES 7 139873553 139873553 single base substitution T C intron_variant CLLE-ES 7 139879777 139879777 single base substitution A T upstream_gene_variant COAD-US 7 139790915 139790915 single base substitution G A 3_prime_UTR_variant COAD-US 7 139790915 139790915 single base substitution G A downstream_gene_variant COAD-US 7 139790915 139790915 single base substitution G A exon_variant COAD-US 7 139790915 139790915 single base substitution G A synonymous_variant G935G 2805C>T COAD-US 7 139796822 139796822 single base substitution G A exon_variant COAD-US 7 139796822 139796822 single base substitution G A missense_variant S681F 2042C>T COAD-US 7 139796822 139796822 single base substitution G A upstream_gene_variant COAD-US 7 139797431 139797431 single base substitution G T exon_variant COAD-US 7 139797431 139797431 single base substitution G T missense_variant R644S 1930C>A COAD-US 7 139798694 139798694 single base substitution G C exon_variant COAD-US 7 139798694 139798694 single base substitution G C missense_variant Q635E 1903C>G COAD-US 7 139801777 139801777 single base substitution T G exon_variant COAD-US 7 139801777 139801777 single base substitution T G synonymous_variant R538R 1612A>C COAD-US 7 139813312 139813312 single base substitution T A exon_variant COAD-US 7 139813312 139813312 single base substitution T A missense_variant L439F 1317A>T COAD-US 7 139819000 139819000 single base substitution T C missense_variant R387G 1159A>G COAD-US 7 139819000 139819000 single base substitution T C upstream_gene_variant COAD-US 7 139824536 139824536 single base substitution T A synonymous_variant A312A 936A>T COAD-US 7 139826594 139826594 single base substitution A G missense_variant I244T 731T>C COAD-US 7 139829300 139829300 single base substitution A G synonymous_variant R184R 552T>C COAD-US 7 139876560 139876560 single base substitution C A missense_variant D60Y 178G>T COCA-CN 7 139781455 139781455 single base substitution C T downstream_gene_variant COCA-CN 7 139786507 139786507 single base substitution A T 3_prime_UTR_variant COCA-CN 7 139786507 139786507 single base substitution A T downstream_gene_variant COCA-CN 7 139799747 139799747 single base substitution G A exon_variant COCA-CN 7 139799747 139799747 single base substitution G A missense_variant A572V 1715C>T COCA-CN 7 139810796 139810796 single base substitution G A intron_variant COCA-CN 7 139824304 139824304 single base substitution C A intron_variant COCA-CN 7 139825474 139825474 single base substitution C T intron_variant COCA-CN 7 139825566 139825566 single base substitution T C intron_variant COCA-CN 7 139826264 139826264 single base substitution A T intron_variant COCA-CN 7 139826346 139826346 single base substitution C A intron_variant COCA-CN 7 139826362 139826362 single base substitution G A intron_variant COCA-CN 7 139827490 139827490 single base substitution A G intron_variant EOPC-DE 7 139806990 139806990 single base substitution A C intron_variant EOPC-DE 7 139861485 139861485 single base substitution C T intron_variant ESAD-UK 7 139784086 139784086 single base substitution C T downstream_gene_variant ESAD-UK 7 139794258 139794258 single base substitution T C downstream_gene_variant ESAD-UK 7 139794258 139794258 single base substitution T C intron_variant ESAD-UK 7 139794258 139794258 single base substitution T C upstream_gene_variant ESAD-UK 7 139794679 139794679 single base substitution C T downstream_gene_variant ESAD-UK 7 139794679 139794679 single base substitution C T intron_variant ESAD-UK 7 139794679 139794679 single base substitution C T upstream_gene_variant ESAD-UK 7 139797549 139797549 single base substitution T A intron_variant ESAD-UK 7 139798781 139798781 single base substitution T G exon_variant ESAD-UK 7 139798781 139798781 single base substitution T G missense_variant N606H 1816A>C ESAD-UK 7 139799192 139799192 single base substitution T C intron_variant ESAD-UK 7 139800060 139800060 single base substitution C T intron_variant ESAD-UK 7 139807928 139807928 single base substitution C T intron_variant ESAD-UK 7 139809538 139809538 single base substitution C G intron_variant ESAD-UK 7 139810169 139810169 single base substitution C G intron_variant ESAD-UK 7 139817720 139817720 single base substitution A C intron_variant ESAD-UK 7 139820166 139820166 deletion of <=200bp T - intron_variant ESAD-UK 7 139820166 139820166 deletion of <=200bp T - upstream_gene_variant ESAD-UK 7 139820913 139820913 insertion of <=200bp - TG intron_variant ESAD-UK 7 139820913 139820913 insertion of <=200bp - TG upstream_gene_variant ESAD-UK 7 139820916 139820916 insertion of <=200bp - CCT intron_variant ESAD-UK 7 139820916 139820916 insertion of <=200bp - CCT upstream_gene_variant ESAD-UK 7 139821735 139821735 single base substitution C T intron_variant ESAD-UK 7 139821735 139821735 single base substitution C T upstream_gene_variant ESAD-UK 7 139823329 139823329 deletion of <=200bp T - intron_variant ESAD-UK 7 139823329 139823329 deletion of <=200bp T - upstream_gene_variant ESAD-UK 7 139825886 139825886 deletion of <=200bp T - intron_variant ESAD-UK 7 139826798 139826798 single base substitution C T intron_variant ESAD-UK 7 139829271 139829271 single base substitution C T intron_variant ESAD-UK 7 139830158 139830158 single base substitution G T intron_variant ESAD-UK 7 139830292 139830292 single base substitution G A intron_variant ESAD-UK 7 139831045 139831045 single base substitution G A intron_variant ESAD-UK 7 139832103 139832103 single base substitution G A intron_variant ESAD-UK 7 139835811 139835811 single base substitution G A intron_variant ESAD-UK 7 139838507 139838507 single base substitution G A intron_variant ESAD-UK 7 139839243 139839243 single base substitution T C intron_variant ESAD-UK 7 139839791 139839791 single base substitution A T intron_variant ESAD-UK 7 139841863 139841863 single base substitution A T intron_variant ESAD-UK 7 139843921 139843921 single base substitution A C intron_variant ESAD-UK 7 139844954 139844954 deletion of <=200bp T - intron_variant ESAD-UK 7 139846603 139846603 deletion of <=200bp T - intron_variant ESAD-UK 7 139848200 139848200 deletion of <=200bp T - intron_variant ESAD-UK 7 139851846 139851846 single base substitution T A intron_variant ESAD-UK 7 139852671 139852671 insertion of <=200bp - T intron_variant ESAD-UK 7 139852894 139852894 single base substitution G A intron_variant ESAD-UK 7 139857641 139857641 single base substitution C T intron_variant ESAD-UK 7 139857796 139857796 insertion of <=200bp - A intron_variant ESAD-UK 7 139861409 139861409 single base substitution G A intron_variant ESAD-UK 7 139862092 139862092 single base substitution G A intron_variant ESAD-UK 7 139862854 139862854 single base substitution G A intron_variant ESAD-UK 7 139867670 139867670 single base substitution C T intron_variant ESAD-UK 7 139873484 139873484 single base substitution G T intron_variant ESAD-UK 7 139874425 139874425 single base substitution G A intron_variant ESAD-UK 7 139875290 139875290 single base substitution G C intron_variant ESAD-UK 7 139875495 139875495 single base substitution G A intron_variant ESAD-UK 7 139875673 139875673 single base substitution G A intron_variant ESAD-UK 7 139877858 139877858 single base substitution A T upstream_gene_variant ESAD-UK 7 139878648 139878648 single base substitution G A upstream_gene_variant ESAD-UK 7 139878720 139878720 single base substitution C T upstream_gene_variant ESAD-UK 7 139879748 139879748 insertion of <=200bp - TATT upstream_gene_variant ESCA-CN 7 139791773 139791773 single base substitution C T 3_prime_UTR_variant ESCA-CN 7 139791773 139791773 single base substitution C T downstream_gene_variant ESCA-CN 7 139791773 139791773 single base substitution C T exon_variant ESCA-CN 7 139791773 139791773 single base substitution C T synonymous_variant Q854Q 2562G>A ESCA-CN 7 139796502 139796502 single base substitution C G exon_variant ESCA-CN 7 139796502 139796502 single base substitution C G missense_variant G743R 2227G>C ESCA-CN 7 139796502 139796502 single base substitution C G upstream_gene_variant ESCA-CN 7 139801866 139801866 single base substitution C T exon_variant ESCA-CN 7 139801866 139801866 single base substitution C T missense_variant R508Q 1523G>A GBM-US 7 139790907 139790907 single base substitution C T 3_prime_UTR_variant GBM-US 7 139790907 139790907 single base substitution C T downstream_gene_variant GBM-US 7 139790907 139790907 single base substitution C T exon_variant GBM-US 7 139790907 139790907 single base substitution C T missense_variant R938H 2813G>A GBM-US 7 139824534 139824534 single base substitution C T missense_variant R313H 938G>A GBM-US 7 139826573 139826573 single base substitution A T missense_variant V251E 752T>A GBM-US 7 139833358 139833358 single base substitution G A missense_variant R127C 379C>T KIRC-US 7 139798703 139798703 deletion of <=200bp C - exon_variant KIRC-US 7 139798703 139798703 deletion of <=200bp C - frameshift_variant E632 KIRC-US 7 139826594 139826594 single base substitution A G missense_variant I244T 731T>C LAML-CN 7 139824449 139824449 single base substitution C T synonymous_variant K341K 1023G>A LAML-KR 7 139872466 139872466 single base substitution T A intron_variant LAML-KR 7 139879998 139879998 single base substitution C T upstream_gene_variant LAML-KR 7 139880002 139880002 single base substitution T C upstream_gene_variant LGG-US 7 139810958 139810958 single base substitution A C exon_variant LGG-US 7 139810958 139810958 single base substitution A C missense_variant I455M 1365T>G LGG-US 7 139824520 139824520 single base substitution T G missense_variant S318R 952A>C LICA-CN 7 139801828 139801828 single base substitution T A exon_variant LICA-CN 7 139801828 139801828 single base substitution T A missense_variant T521S 1561A>T LICA-CN 7 139876610 139876610 single base substitution C T missense_variant R43Q 128G>A LICA-FR 7 139780836 139780836 single base substitution C T downstream_gene_variant LICA-FR 7 139781102 139781102 single base substitution T A downstream_gene_variant LICA-FR 7 139787843 139787843 single base substitution A C 3_prime_UTR_variant LICA-FR 7 139787843 139787843 single base substitution A C downstream_gene_variant LICA-FR 7 139796542 139796542 single base substitution G A exon_variant LICA-FR 7 139796542 139796542 single base substitution G A synonymous_variant S729S 2187C>T LICA-FR 7 139796542 139796542 single base substitution G A upstream_gene_variant LICA-FR 7 139814038 139814038 single base substitution C T intron_variant LICA-FR 7 139816109 139816109 single base substitution C A intron_variant LICA-FR 7 139818157 139818157 single base substitution G A intron_variant LICA-FR 7 139818913 139818913 single base substitution C A splice_region_variant LICA-FR 7 139818913 139818913 single base substitution C A stop_gained E416* 1246G>T LICA-FR 7 139823870 139823871 deletion of <=200bp AA - intron_variant LICA-FR 7 139823870 139823871 deletion of <=200bp AA - upstream_gene_variant LICA-FR 7 139833889 139833889 deletion of <=200bp T - intron_variant LICA-FR 7 139834850 139834853 deletion of <=200bp AAAC - intron_variant LICA-FR 7 139838125 139838125 single base substitution T A intron_variant LICA-FR 7 139840543 139840545 deletion of <=200bp AAA - intron_variant LICA-FR 7 139843222 139843222 single base substitution T C intron_variant LICA-FR 7 139854300 139854300 deletion of <=200bp A - intron_variant LICA-FR 7 139881183 139881183 single base substitution T C upstream_gene_variant LIHC-US 7 139791731 139791731 single base substitution C T 3_prime_UTR_variant LIHC-US 7 139791731 139791731 single base substitution C T downstream_gene_variant LIHC-US 7 139791731 139791731 single base substitution C T exon_variant LIHC-US 7 139791731 139791731 single base substitution C T synonymous_variant A868A 2604G>A LIHC-US 7 139798778 139798778 single base substitution C T exon_variant LIHC-US 7 139798778 139798778 single base substitution C T missense_variant E607K 1819G>A LIHC-US 7 139819020 139819020 single base substitution C A splice_acceptor_variant LIHC-US 7 139819020 139819020 single base substitution C A upstream_gene_variant LIHC-US 7 139824552 139824552 single base substitution G A missense_variant T307I 920C>T LIHC-US 7 139876582 139876582 single base substitution C G missense_variant M52I 156G>C LINC-JP 7 139780810 139780812 deletion of <=200bp GCC - downstream_gene_variant LINC-JP 7 139782935 139782935 single base substitution T A downstream_gene_variant LINC-JP 7 139790240 139790240 single base substitution G A 3_prime_UTR_variant LINC-JP 7 139790240 139790240 single base substitution G A downstream_gene_variant LINC-JP 7 139790761 139790761 single base substitution G A 3_prime_UTR_variant LINC-JP 7 139790761 139790761 single base substitution G A downstream_gene_variant LINC-JP 7 139790761 139790761 single base substitution G A exon_variant LINC-JP 7 139790913 139790913 single base substitution T A 3_prime_UTR_variant LINC-JP 7 139790913 139790913 single base substitution T A downstream_gene_variant LINC-JP 7 139790913 139790913 single base substitution T A exon_variant LINC-JP 7 139790913 139790913 single base substitution T A missense_variant H936L 2807A>T LINC-JP 7 139790968 139790968 single base substitution T C 3_prime_UTR_variant LINC-JP 7 139790968 139790968 single base substitution T C downstream_gene_variant LINC-JP 7 139790968 139790968 single base substitution T C exon_variant LINC-JP 7 139790968 139790968 single base substitution T C missense_variant M918V 2752A>G LINC-JP 7 139791708 139791708 single base substitution A T 3_prime_UTR_variant LINC-JP 7 139791708 139791708 single base substitution A T downstream_gene_variant LINC-JP 7 139791708 139791708 single base substitution A T exon_variant LINC-JP 7 139791708 139791708 single base substitution A T missense_variant L876Q 2627T>A LINC-JP 7 139793876 139793876 single base substitution T C 3_prime_UTR_variant LINC-JP 7 139793876 139793876 single base substitution T C downstream_gene_variant LINC-JP 7 139793876 139793876 single base substitution T C missense_variant T813A 2437A>G LINC-JP 7 139793876 139793876 single base substitution T C upstream_gene_variant LINC-JP 7 139793992 139793993 deletion of <=200bp AA - downstream_gene_variant LINC-JP 7 139793992 139793993 deletion of <=200bp AA - intron_variant LINC-JP 7 139793992 139793993 deletion of <=200bp AA - upstream_gene_variant LINC-JP 7 139796204 139796204 single base substitution T C intron_variant LINC-JP 7 139796204 139796204 single base substitution T C upstream_gene_variant LINC-JP 7 139800992 139800992 single base substitution G T intron_variant LINC-JP 7 139810996 139810996 single base substitution T A intron_variant LINC-JP 7 139811182 139811182 single base substitution G A intron_variant LINC-JP 7 139813250 139813264 deletion of <=200bp GTGGCATAAAACACA - intron_variant LINC-JP 7 139818110 139818110 single base substitution T C intron_variant LINC-JP 7 139827546 139827546 single base substitution G A intron_variant LINC-JP 7 139839298 139839298 single base substitution T C intron_variant LINC-JP 7 139840275 139840275 single base substitution C A intron_variant LINC-JP 7 139846949 139846949 deletion of <=200bp A - intron_variant LINC-JP 7 139853792 139853792 single base substitution G A intron_variant LINC-JP 7 139857190 139857190 single base substitution C T intron_variant LIRI-JP 7 139779994 139779994 single base substitution G T downstream_gene_variant LIRI-JP 7 139783074 139783074 single base substitution T C downstream_gene_variant LIRI-JP 7 139783455 139783455 single base substitution T C downstream_gene_variant LIRI-JP 7 139784157 139784157 single base substitution T G downstream_gene_variant LIRI-JP 7 139785116 139785116 single base substitution T C 3_prime_UTR_variant LIRI-JP 7 139785285 139785285 deletion of <=200bp T - 3_prime_UTR_variant LIRI-JP 7 139785367 139785367 single base substitution A G 3_prime_UTR_variant LIRI-JP 7 139785645 139785645 single base substitution A T 3_prime_UTR_variant LIRI-JP 7 139787188 139787188 single base substitution C T 3_prime_UTR_variant LIRI-JP 7 139787188 139787188 single base substitution C T downstream_gene_variant LIRI-JP 7 139787624 139787624 single base substitution C A 3_prime_UTR_variant LIRI-JP 7 139787624 139787624 single base substitution C A downstream_gene_variant LIRI-JP 7 139788086 139788086 single base substitution T A 3_prime_UTR_variant LIRI-JP 7 139788086 139788086 single base substitution T A downstream_gene_variant LIRI-JP 7 139790787 139790787 single base substitution C T 3_prime_UTR_variant LIRI-JP 7 139790787 139790787 single base substitution C T downstream_gene_variant LIRI-JP 7 139790787 139790787 single base substitution C T exon_variant LIRI-JP 7 139791431 139791431 single base substitution T C downstream_gene_variant LIRI-JP 7 139791431 139791431 single base substitution T C intron_variant LIRI-JP 7 139792728 139792728 single base substitution T C downstream_gene_variant LIRI-JP 7 139792728 139792728 single base substitution T C intron_variant LIRI-JP 7 139792728 139792728 single base substitution T C upstream_gene_variant LIRI-JP 7 139792743 139792743 single base substitution A C downstream_gene_variant LIRI-JP 7 139792743 139792743 single base substitution A C intron_variant LIRI-JP 7 139792743 139792743 single base substitution A C upstream_gene_variant LIRI-JP 7 139796148 139796148 single base substitution T C intron_variant LIRI-JP 7 139796148 139796148 single base substitution T C upstream_gene_variant LIRI-JP 7 139798277 139798277 single base substitution C T intron_variant LIRI-JP 7 139799819 139799819 single base substitution A G exon_variant LIRI-JP 7 139799819 139799819 single base substitution A G missense_variant I548T 1643T>C LIRI-JP 7 139801990 139801990 single base substitution T A intron_variant LIRI-JP 7 139804994 139804994 single base substitution A G intron_variant LIRI-JP 7 139807731 139807731 single base substitution T G intron_variant LIRI-JP 7 139809114 139809114 single base substitution G A intron_variant LIRI-JP 7 139810565 139810565 single base substitution T C intron_variant LIRI-JP 7 139812133 139812133 single base substitution G A intron_variant LIRI-JP 7 139813776 139813776 single base substitution T A intron_variant LIRI-JP 7 139817509 139817509 single base substitution T C intron_variant LIRI-JP 7 139820544 139820544 single base substitution C T intron_variant LIRI-JP 7 139820544 139820544 single base substitution C T upstream_gene_variant LIRI-JP 7 139822094 139822094 single base substitution T C intron_variant LIRI-JP 7 139822094 139822094 single base substitution T C upstream_gene_variant LIRI-JP 7 139823068 139823068 single base substitution G A intron_variant LIRI-JP 7 139823068 139823068 single base substitution G A upstream_gene_variant LIRI-JP 7 139824823 139824823 single base substitution A G intron_variant LIRI-JP 7 139827666 139827666 single base substitution T C intron_variant LIRI-JP 7 139827706 139827706 single base substitution T C intron_variant LIRI-JP 7 139829868 139829868 single base substitution T C intron_variant LIRI-JP 7 139829962 139829962 single base substitution T C intron_variant LIRI-JP 7 139831736 139831736 single base substitution T C intron_variant LIRI-JP 7 139834530 139834530 single base substitution T C intron_variant LIRI-JP 7 139835218 139835218 single base substitution G A intron_variant LIRI-JP 7 139839496 139839496 single base substitution A T intron_variant LIRI-JP 7 139839897 139839897 single base substitution G C intron_variant LIRI-JP 7 139842113 139842113 single base substitution T C intron_variant LIRI-JP 7 139846163 139846163 single base substitution C G intron_variant LIRI-JP 7 139846943 139846943 single base substitution G A intron_variant LIRI-JP 7 139847948 139847948 single base substitution G A intron_variant LIRI-JP 7 139848126 139848126 single base substitution C T intron_variant LIRI-JP 7 139852496 139852496 single base substitution A C intron_variant LIRI-JP 7 139852588 139852588 single base substitution G A intron_variant LIRI-JP 7 139855820 139855820 insertion of <=200bp - A intron_variant LIRI-JP 7 139856330 139856330 single base substitution T C intron_variant LIRI-JP 7 139856392 139856392 single base substitution A T intron_variant LIRI-JP 7 139857998 139857998 single base substitution A G intron_variant LIRI-JP 7 139858734 139858734 single base substitution C T intron_variant LIRI-JP 7 139859084 139859084 single base substitution T C intron_variant LIRI-JP 7 139860674 139860674 single base substitution A G intron_variant LIRI-JP 7 139862761 139862761 single base substitution T C intron_variant LIRI-JP 7 139865465 139865465 single base substitution C A intron_variant LIRI-JP 7 139866013 139866013 single base substitution T G intron_variant LIRI-JP 7 139867031 139867031 single base substitution T G intron_variant LIRI-JP 7 139869484 139869484 single base substitution C A intron_variant LIRI-JP 7 139869727 139869727 single base substitution T C intron_variant LIRI-JP 7 139870911 139870911 single base substitution T C intron_variant LIRI-JP 7 139871076 139871076 single base substitution C A intron_variant LIRI-JP 7 139873586 139873586 single base substitution G C intron_variant LIRI-JP 7 139874569 139874569 single base substitution T G intron_variant LIRI-JP 7 139877531 139877531 single base substitution C T upstream_gene_variant LIRI-JP 7 139879617 139879617 single base substitution C T upstream_gene_variant LIRI-JP 7 139880820 139880820 single base substitution A T upstream_gene_variant LIRI-JP 7 139881831 139881831 single base substitution A C upstream_gene_variant LUSC-KR 7 139786787 139786787 single base substitution A G 3_prime_UTR_variant LUSC-KR 7 139786787 139786787 single base substitution A G downstream_gene_variant LUSC-KR 7 139787000 139787000 single base substitution A G 3_prime_UTR_variant LUSC-KR 7 139787000 139787000 single base substitution A G downstream_gene_variant LUSC-KR 7 139796563 139796563 single base substitution C A missense_variant R722S 2166G>T LUSC-KR 7 139796563 139796563 single base substitution C A splice_region_variant LUSC-KR 7 139796563 139796563 single base substitution C A upstream_gene_variant LUSC-KR 7 139805978 139805978 single base substitution C G intron_variant LUSC-KR 7 139807067 139807067 single base substitution C G intron_variant LUSC-KR 7 139807427 139807427 single base substitution C T intron_variant LUSC-KR 7 139807572 139807572 single base substitution G T intron_variant LUSC-KR 7 139810203 139810203 single base substitution G C intron_variant LUSC-KR 7 139814673 139814673 single base substitution A G intron_variant LUSC-KR 7 139815625 139815625 single base substitution A T intron_variant LUSC-KR 7 139827246 139827246 single base substitution T A missense_variant T233S 697A>T LUSC-KR 7 139831140 139831140 single base substitution T C intron_variant LUSC-KR 7 139833285 139833285 single base substitution G A intron_variant LUSC-KR 7 139833804 139833804 single base substitution T C intron_variant LUSC-KR 7 139842970 139842970 single base substitution A C intron_variant LUSC-KR 7 139845672 139845672 single base substitution G A intron_variant LUSC-KR 7 139850237 139850237 single base substitution C T intron_variant LUSC-KR 7 139850252 139850252 single base substitution C A intron_variant LUSC-KR 7 139850361 139850361 single base substitution C T intron_variant LUSC-KR 7 139856856 139856856 single base substitution C G intron_variant LUSC-KR 7 139866143 139866143 single base substitution T A intron_variant LUSC-KR 7 139866158 139866158 single base substitution G T intron_variant LUSC-KR 7 139866272 139866272 single base substitution T G intron_variant LUSC-KR 7 139878036 139878036 single base substitution T C upstream_gene_variant LUSC-KR 7 139878085 139878085 single base substitution C T upstream_gene_variant LUSC-KR 7 139878089 139878089 single base substitution C T upstream_gene_variant LUSC-US 7 139791688 139791688 single base substitution C T 3_prime_UTR_variant LUSC-US 7 139791688 139791688 single base substitution C T downstream_gene_variant LUSC-US 7 139791688 139791688 single base substitution C T exon_variant LUSC-US 7 139791688 139791688 single base substitution C T missense_variant G883S 2647G>A LUSC-US 7 139793879 139793879 single base substitution C G 3_prime_UTR_variant LUSC-US 7 139793879 139793879 single base substitution C G downstream_gene_variant LUSC-US 7 139793879 139793879 single base substitution C G missense_variant D812H 2434G>C LUSC-US 7 139793879 139793879 single base substitution C G upstream_gene_variant LUSC-US 7 139826529 139826529 single base substitution C T missense_variant V266I 796G>A LUSC-US 7 139826556 139826556 single base substitution C G missense_variant D257H 769G>C MALY-DE 7 139783696 139783696 single base substitution A G downstream_gene_variant MALY-DE 7 139799904 139799904 single base substitution C T intron_variant MALY-DE 7 139815105 139815105 single base substitution C T intron_variant MALY-DE 7 139822240 139822240 single base substitution A T intron_variant MALY-DE 7 139822240 139822240 single base substitution A T upstream_gene_variant MALY-DE 7 139823210 139823210 single base substitution A G intron_variant MALY-DE 7 139823210 139823210 single base substitution A G upstream_gene_variant MALY-DE 7 139827964 139827964 single base substitution A G intron_variant MALY-DE 7 139835467 139835467 single base substitution T C intron_variant MALY-DE 7 139841162 139841162 insertion of <=200bp - C intron_variant MALY-DE 7 139844511 139844512 deletion of <=200bp AC - intron_variant MALY-DE 7 139858565 139858565 single base substitution A T intron_variant MALY-DE 7 139858566 139858566 single base substitution A T intron_variant MALY-DE 7 139858576 139858576 single base substitution A C intron_variant MALY-DE 7 139858642 139858642 single base substitution T G intron_variant MALY-DE 7 139862618 139862618 single base substitution G C intron_variant MALY-DE 7 139868748 139868748 single base substitution C A intron_variant MALY-DE 7 139868855 139868855 single base substitution G A intron_variant MELA-AU 7 139780208 139780208 single base substitution A C downstream_gene_variant MELA-AU 7 139780364 139780364 single base substitution G A downstream_gene_variant MELA-AU 7 139780447 139780447 single base substitution G A downstream_gene_variant MELA-AU 7 139781773 139781774 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 139781846 139781846 single base substitution G A downstream_gene_variant MELA-AU 7 139782146 139782146 single base substitution A C downstream_gene_variant MELA-AU 7 139782147 139782147 single base substitution A C downstream_gene_variant MELA-AU 7 139782169 139782169 single base substitution A T downstream_gene_variant MELA-AU 7 139782420 139782420 single base substitution G A downstream_gene_variant MELA-AU 7 139782688 139782688 single base substitution G A downstream_gene_variant MELA-AU 7 139782762 139782762 single base substitution T C downstream_gene_variant MELA-AU 7 139782774 139782774 single base substitution C T downstream_gene_variant MELA-AU 7 139782783 139782783 single base substitution G A downstream_gene_variant MELA-AU 7 139782842 139782842 single base substitution G C downstream_gene_variant MELA-AU 7 139783404 139783404 single base substitution G A downstream_gene_variant MELA-AU 7 139783408 139783408 single base substitution G A downstream_gene_variant MELA-AU 7 139783755 139783755 single base substitution G A downstream_gene_variant MELA-AU 7 139784255 139784255 single base substitution G A downstream_gene_variant MELA-AU 7 139784281 139784282 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 139784543 139784543 single base substitution G A downstream_gene_variant MELA-AU 7 139784648 139784648 deletion of <=200bp A - 3_prime_UTR_variant MELA-AU 7 139784648 139784648 deletion of <=200bp A - downstream_gene_variant MELA-AU 7 139784941 139784941 single base substitution G A 3_prime_UTR_variant MELA-AU 7 139785804 139785804 single base substitution G A 3_prime_UTR_variant MELA-AU 7 139785804 139785804 single base substitution G A downstream_gene_variant MELA-AU 7 139785870 139785870 single base substitution G A 3_prime_UTR_variant MELA-AU 7 139785870 139785870 single base substitution G A downstream_gene_variant MELA-AU 7 139786197 139786197 single base substitution G A 3_prime_UTR_variant MELA-AU 7 139786197 139786197 single base substitution G A downstream_gene_variant MELA-AU 7 139786937 139786937 single base substitution T C 3_prime_UTR_variant MELA-AU 7 139786937 139786937 single base substitution T C downstream_gene_variant MELA-AU 7 139787146 139787146 single base substitution C T 3_prime_UTR_variant MELA-AU 7 139787146 139787146 single base substitution C T downstream_gene_variant MELA-AU 7 139787712 139787712 single base substitution A T 3_prime_UTR_variant MELA-AU 7 139787712 139787712 single base substitution A T downstream_gene_variant MELA-AU 7 139787718 139787718 single base substitution C T 3_prime_UTR_variant MELA-AU 7 139787718 139787718 single base substitution C T downstream_gene_variant MELA-AU 7 139788159 139788159 single base substitution G A 3_prime_UTR_variant MELA-AU 7 139788159 139788159 single base substitution G A downstream_gene_variant MELA-AU 7 139788434 139788434 single base substitution G A 3_prime_UTR_variant MELA-AU 7 139788434 139788434 single base substitution G A downstream_gene_variant MELA-AU 7 139788868 139788868 single base substitution C T 3_prime_UTR_variant MELA-AU 7 139788868 139788868 single base substitution C T downstream_gene_variant MELA-AU 7 139789362 139789362 single base substitution C T 3_prime_UTR_variant MELA-AU 7 139789362 139789362 single base substitution C T downstream_gene_variant MELA-AU 7 139789596 139789596 single base substitution G A 3_prime_UTR_variant MELA-AU 7 139789596 139789596 single base substitution G A downstream_gene_variant MELA-AU 7 139789749 139789749 single base substitution G A 3_prime_UTR_variant MELA-AU 7 139789749 139789749 single base substitution G A downstream_gene_variant MELA-AU 7 139790088 139790088 single base substitution G A 3_prime_UTR_variant MELA-AU 7 139790088 139790088 single base substitution G A downstream_gene_variant MELA-AU 7 139790233 139790233 single base substitution G A 3_prime_UTR_variant MELA-AU 7 139790233 139790233 single base substitution G A downstream_gene_variant MELA-AU 7 139790310 139790310 single base substitution T C 3_prime_UTR_variant MELA-AU 7 139790310 139790310 single base substitution T C downstream_gene_variant MELA-AU 7 139790649 139790649 single base substitution C T 3_prime_UTR_variant MELA-AU 7 139790649 139790649 single base substitution C T downstream_gene_variant MELA-AU 7 139791052 139791052 single base substitution G A downstream_gene_variant MELA-AU 7 139791052 139791052 single base substitution G A intron_variant MELA-AU 7 139791081 139791081 single base substitution G A downstream_gene_variant MELA-AU 7 139791081 139791081 single base substitution G A intron_variant MELA-AU 7 139791146 139791146 single base substitution C A downstream_gene_variant MELA-AU 7 139791146 139791146 single base substitution C A intron_variant MELA-AU 7 139791814 139791814 single base substitution G C 3_prime_UTR_variant MELA-AU 7 139791814 139791814 single base substitution G C downstream_gene_variant MELA-AU 7 139791814 139791814 single base substitution G C exon_variant MELA-AU 7 139791814 139791814 single base substitution G C missense_variant Q841E 2521C>G MELA-AU 7 139791874 139791874 single base substitution G A 3_prime_UTR_variant MELA-AU 7 139791874 139791874 single base substitution G A downstream_gene_variant MELA-AU 7 139791874 139791874 single base substitution G A exon_variant MELA-AU 7 139791874 139791874 single base substitution G A synonymous_variant L821L 2461C>T MELA-AU 7 139791887 139791887 single base substitution G A downstream_gene_variant MELA-AU 7 139791887 139791887 single base substitution G A exon_variant MELA-AU 7 139791887 139791887 single base substitution G A intron_variant MELA-AU 7 139792005 139792005 single base substitution A G downstream_gene_variant MELA-AU 7 139792005 139792005 single base substitution A G intron_variant MELA-AU 7 139792005 139792005 single base substitution A G upstream_gene_variant MELA-AU 7 139792322 139792322 single base substitution G A downstream_gene_variant MELA-AU 7 139792322 139792322 single base substitution G A intron_variant MELA-AU 7 139792322 139792322 single base substitution G A upstream_gene_variant MELA-AU 7 139792473 139792473 single base substitution G A downstream_gene_variant MELA-AU 7 139792473 139792473 single base substitution G A intron_variant MELA-AU 7 139792473 139792473 single base substitution G A upstream_gene_variant MELA-AU 7 139792995 139792995 single base substitution C A downstream_gene_variant MELA-AU 7 139792995 139792995 single base substitution C A intron_variant MELA-AU 7 139792995 139792995 single base substitution C A upstream_gene_variant MELA-AU 7 139793325 139793325 single base substitution T A downstream_gene_variant MELA-AU 7 139793325 139793325 single base substitution T A intron_variant MELA-AU 7 139793325 139793325 single base substitution T A upstream_gene_variant MELA-AU 7 139793325 139793325 single base substitution T C downstream_gene_variant MELA-AU 7 139793325 139793325 single base substitution T C intron_variant MELA-AU 7 139793325 139793325 single base substitution T C upstream_gene_variant MELA-AU 7 139793509 139793509 single base substitution C A downstream_gene_variant MELA-AU 7 139793509 139793509 single base substitution C A intron_variant MELA-AU 7 139793509 139793509 single base substitution C A upstream_gene_variant MELA-AU 7 139793705 139793705 single base substitution G A downstream_gene_variant MELA-AU 7 139793705 139793705 single base substitution G A intron_variant MELA-AU 7 139793705 139793705 single base substitution G A upstream_gene_variant MELA-AU 7 139793978 139793978 single base substitution T C downstream_gene_variant MELA-AU 7 139793978 139793978 single base substitution T C intron_variant MELA-AU 7 139793978 139793978 single base substitution T C upstream_gene_variant MELA-AU 7 139794089 139794089 single base substitution G A downstream_gene_variant MELA-AU 7 139794089 139794089 single base substitution G A intron_variant MELA-AU 7 139794089 139794089 single base substitution G A upstream_gene_variant MELA-AU 7 139794179 139794179 single base substitution C T downstream_gene_variant MELA-AU 7 139794179 139794179 single base substitution C T intron_variant MELA-AU 7 139794179 139794179 single base substitution C T upstream_gene_variant MELA-AU 7 139794653 139794653 single base substitution T G downstream_gene_variant MELA-AU 7 139794653 139794653 single base substitution T G intron_variant MELA-AU 7 139794653 139794653 single base substitution T G upstream_gene_variant MELA-AU 7 139795095 139795095 single base substitution G A downstream_gene_variant MELA-AU 7 139795095 139795095 single base substitution G A intron_variant MELA-AU 7 139795095 139795095 single base substitution G A upstream_gene_variant MELA-AU 7 139795580 139795580 single base substitution G A intron_variant MELA-AU 7 139795580 139795580 single base substitution G A upstream_gene_variant MELA-AU 7 139795672 139795672 single base substitution G A intron_variant MELA-AU 7 139795672 139795672 single base substitution G A upstream_gene_variant MELA-AU 7 139795849 139795849 single base substitution C T intron_variant MELA-AU 7 139795849 139795849 single base substitution C T upstream_gene_variant MELA-AU 7 139795870 139795870 single base substitution G A intron_variant MELA-AU 7 139795870 139795870 single base substitution G A upstream_gene_variant MELA-AU 7 139796256 139796256 single base substitution G C intron_variant MELA-AU 7 139796256 139796256 single base substitution G C upstream_gene_variant MELA-AU 7 139796266 139796266 single base substitution C T intron_variant MELA-AU 7 139796266 139796266 single base substitution C T upstream_gene_variant MELA-AU 7 139796423 139796423 single base substitution G A exon_variant MELA-AU 7 139796423 139796423 single base substitution G A missense_variant P769L 2306C>T MELA-AU 7 139796423 139796423 single base substitution G A upstream_gene_variant MELA-AU 7 139796479 139796479 single base substitution T A exon_variant MELA-AU 7 139796479 139796479 single base substitution T A missense_variant L750F 2250A>T MELA-AU 7 139796479 139796479 single base substitution T A upstream_gene_variant MELA-AU 7 139796670 139796670 single base substitution A T intron_variant MELA-AU 7 139796670 139796670 single base substitution A T upstream_gene_variant MELA-AU 7 139797013 139797013 single base substitution G A intron_variant MELA-AU 7 139797281 139797281 single base substitution G A intron_variant MELA-AU 7 139797510 139797510 single base substitution G A intron_variant MELA-AU 7 139797915 139797915 single base substitution G A intron_variant MELA-AU 7 139798016 139798016 single base substitution G A intron_variant MELA-AU 7 139798097 139798097 single base substitution G A intron_variant MELA-AU 7 139798141 139798141 single base substitution C T intron_variant MELA-AU 7 139798663 139798663 single base substitution C T intron_variant MELA-AU 7 139799361 139799361 single base substitution G A intron_variant MELA-AU 7 139799490 139799490 single base substitution T C intron_variant MELA-AU 7 139799603 139799603 single base substitution C T intron_variant MELA-AU 7 139799634 139799634 single base substitution G T intron_variant MELA-AU 7 139799711 139799711 single base substitution C T exon_variant MELA-AU 7 139799711 139799711 single base substitution C T missense_variant G584E 1751G>A MELA-AU 7 139799940 139799940 single base substitution G A intron_variant MELA-AU 7 139800243 139800243 single base substitution C T intron_variant MELA-AU 7 139800301 139800301 single base substitution G A intron_variant MELA-AU 7 139800309 139800309 single base substitution G A intron_variant MELA-AU 7 139800550 139800550 single base substitution A T intron_variant MELA-AU 7 139800554 139800554 single base substitution T G intron_variant MELA-AU 7 139800585 139800585 single base substitution G A intron_variant MELA-AU 7 139800834 139800834 single base substitution C T intron_variant MELA-AU 7 139801097 139801097 single base substitution G A intron_variant MELA-AU 7 139801174 139801174 single base substitution C T intron_variant MELA-AU 7 139801266 139801266 single base substitution C T intron_variant MELA-AU 7 139801452 139801453 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 139801761 139801761 single base substitution G A exon_variant MELA-AU 7 139801761 139801761 single base substitution G A missense_variant P543L 1628C>T MELA-AU 7 139801824 139801824 single base substitution G A exon_variant MELA-AU 7 139801824 139801824 single base substitution G A missense_variant P522L 1565C>T MELA-AU 7 139801825 139801825 single base substitution G A exon_variant MELA-AU 7 139801825 139801825 single base substitution G A missense_variant P522S 1564C>T MELA-AU 7 139801899 139801899 single base substitution G A exon_variant MELA-AU 7 139801899 139801899 single base substitution G A missense_variant S497F 1490C>T MELA-AU 7 139802449 139802449 single base substitution C T intron_variant MELA-AU 7 139802671 139802671 single base substitution C T intron_variant MELA-AU 7 139803082 139803082 single base substitution C T intron_variant MELA-AU 7 139803437 139803437 single base substitution G A intron_variant MELA-AU 7 139803923 139803923 single base substitution C T intron_variant MELA-AU 7 139803964 139803964 insertion of <=200bp - T intron_variant MELA-AU 7 139804272 139804272 single base substitution C A intron_variant MELA-AU 7 139804300 139804300 single base substitution G A intron_variant MELA-AU 7 139804337 139804337 single base substitution C T intron_variant MELA-AU 7 139804412 139804412 single base substitution G A intron_variant MELA-AU 7 139804629 139804629 single base substitution G A intron_variant MELA-AU 7 139804788 139804788 single base substitution C T intron_variant MELA-AU 7 139804821 139804821 single base substitution G A intron_variant MELA-AU 7 139804909 139804909 single base substitution G A intron_variant MELA-AU 7 139805030 139805030 single base substitution G A intron_variant MELA-AU 7 139805208 139805208 single base substitution G A intron_variant MELA-AU 7 139805306 139805306 single base substitution G A intron_variant MELA-AU 7 139805530 139805530 single base substitution G A intron_variant MELA-AU 7 139805531 139805531 single base substitution G A intron_variant MELA-AU 7 139805691 139805692 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 7 139805817 139805817 single base substitution G A intron_variant MELA-AU 7 139806877 139806877 single base substitution G A intron_variant MELA-AU 7 139806952 139806952 single base substitution G A intron_variant MELA-AU 7 139807245 139807245 single base substitution G A intron_variant MELA-AU 7 139807359 139807360 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 139808063 139808063 single base substitution G A intron_variant MELA-AU 7 139808143 139808143 single base substitution G A intron_variant MELA-AU 7 139808146 139808147 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 139808147 139808147 single base substitution G A intron_variant MELA-AU 7 139808148 139808148 single base substitution G A intron_variant MELA-AU 7 139808348 139808348 single base substitution C T intron_variant MELA-AU 7 139808405 139808405 single base substitution G A intron_variant MELA-AU 7 139808609 139808609 single base substitution G A intron_variant MELA-AU 7 139808807 139808807 single base substitution G C intron_variant MELA-AU 7 139808987 139808987 single base substitution G A intron_variant MELA-AU 7 139809028 139809028 single base substitution G A intron_variant MELA-AU 7 139809215 139809215 single base substitution C T intron_variant MELA-AU 7 139809434 139809434 single base substitution G A intron_variant MELA-AU 7 139809512 139809512 single base substitution G A intron_variant MELA-AU 7 139809569 139809569 single base substitution C T intron_variant MELA-AU 7 139809846 139809846 single base substitution G A intron_variant MELA-AU 7 139810034 139810034 single base substitution G A intron_variant MELA-AU 7 139811067 139811067 single base substitution G A intron_variant MELA-AU 7 139811151 139811151 single base substitution G A intron_variant MELA-AU 7 139811292 139811292 single base substitution C T intron_variant MELA-AU 7 139811467 139811467 single base substitution G A intron_variant MELA-AU 7 139811592 139811592 single base substitution C T intron_variant MELA-AU 7 139811947 139811947 single base substitution G A intron_variant MELA-AU 7 139812208 139812208 single base substitution A G intron_variant MELA-AU 7 139812210 139812210 single base substitution G A intron_variant MELA-AU 7 139813119 139813119 single base substitution G A intron_variant MELA-AU 7 139813922 139813922 single base substitution C T intron_variant MELA-AU 7 139813989 139813989 single base substitution C T intron_variant MELA-AU 7 139814201 139814201 single base substitution C T intron_variant MELA-AU 7 139814526 139814526 single base substitution C T intron_variant MELA-AU 7 139814652 139814652 single base substitution C G intron_variant MELA-AU 7 139814893 139814893 single base substitution C T intron_variant MELA-AU 7 139814918 139814918 single base substitution G A intron_variant MELA-AU 7 139815031 139815031 single base substitution C T intron_variant MELA-AU 7 139815169 139815169 single base substitution G A intron_variant MELA-AU 7 139815402 139815402 single base substitution C T intron_variant MELA-AU 7 139816403 139816403 single base substitution C T intron_variant MELA-AU 7 139816641 139816641 single base substitution G A intron_variant MELA-AU 7 139816723 139816723 single base substitution C T intron_variant MELA-AU 7 139817056 139817056 single base substitution C T intron_variant MELA-AU 7 139818054 139818054 single base substitution G A intron_variant MELA-AU 7 139818308 139818308 single base substitution G A intron_variant MELA-AU 7 139818716 139818716 single base substitution G A intron_variant MELA-AU 7 139818732 139818732 single base substitution G A intron_variant MELA-AU 7 139818801 139818802 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 139818858 139818858 single base substitution G A intron_variant MELA-AU 7 139818886 139818886 single base substitution T C intron_variant MELA-AU 7 139818971 139818971 single base substitution G A synonymous_variant F396F 1188C>T MELA-AU 7 139818971 139818971 single base substitution G A upstream_gene_variant MELA-AU 7 139819010 139819010 single base substitution C T synonymous_variant E383E 1149G>A MELA-AU 7 139819010 139819010 single base substitution C T upstream_gene_variant MELA-AU 7 139819155 139819155 single base substitution A C intron_variant MELA-AU 7 139819155 139819155 single base substitution A C upstream_gene_variant MELA-AU 7 139819282 139819282 single base substitution T A intron_variant MELA-AU 7 139819282 139819282 single base substitution T A upstream_gene_variant MELA-AU 7 139819775 139819775 single base substitution G A intron_variant MELA-AU 7 139819775 139819775 single base substitution G A upstream_gene_variant MELA-AU 7 139820196 139820196 single base substitution A T intron_variant MELA-AU 7 139820196 139820196 single base substitution A T upstream_gene_variant MELA-AU 7 139820265 139820265 single base substitution G A synonymous_variant N372N 1116C>T MELA-AU 7 139820265 139820265 single base substitution G A upstream_gene_variant MELA-AU 7 139820274 139820274 single base substitution G A synonymous_variant F369F 1107C>T MELA-AU 7 139820274 139820274 single base substitution G A upstream_gene_variant MELA-AU 7 139820289 139820289 single base substitution A C synonymous_variant A364A 1092T>G MELA-AU 7 139820289 139820289 single base substitution A C upstream_gene_variant MELA-AU 7 139820389 139820389 single base substitution G A intron_variant MELA-AU 7 139820389 139820389 single base substitution G A upstream_gene_variant MELA-AU 7 139820549 139820549 single base substitution T C intron_variant MELA-AU 7 139820549 139820549 single base substitution T C upstream_gene_variant MELA-AU 7 139820896 139820896 single base substitution G A intron_variant MELA-AU 7 139820896 139820896 single base substitution G A upstream_gene_variant MELA-AU 7 139821478 139821478 single base substitution C T intron_variant MELA-AU 7 139821478 139821478 single base substitution C T upstream_gene_variant MELA-AU 7 139821524 139821524 single base substitution C T intron_variant MELA-AU 7 139821524 139821524 single base substitution C T upstream_gene_variant MELA-AU 7 139822232 139822232 single base substitution G A intron_variant MELA-AU 7 139822232 139822232 single base substitution G A upstream_gene_variant MELA-AU 7 139822264 139822264 single base substitution C T intron_variant MELA-AU 7 139822264 139822264 single base substitution C T upstream_gene_variant MELA-AU 7 139822270 139822270 single base substitution G A intron_variant MELA-AU 7 139822270 139822270 single base substitution G A upstream_gene_variant MELA-AU 7 139822618 139822618 single base substitution C T intron_variant MELA-AU 7 139822618 139822618 single base substitution C T upstream_gene_variant MELA-AU 7 139823042 139823042 single base substitution A T intron_variant MELA-AU 7 139823042 139823042 single base substitution A T upstream_gene_variant MELA-AU 7 139823388 139823388 single base substitution G A intron_variant MELA-AU 7 139823388 139823388 single base substitution G A upstream_gene_variant MELA-AU 7 139823602 139823603 multiple base substitution (>=2bp and <=200bp) CC TG intron_variant MELA-AU 7 139823602 139823603 multiple base substitution (>=2bp and <=200bp) CC TG upstream_gene_variant MELA-AU 7 139823754 139823754 single base substitution C T intron_variant MELA-AU 7 139823754 139823754 single base substitution C T upstream_gene_variant MELA-AU 7 139823789 139823789 single base substitution G A intron_variant MELA-AU 7 139823789 139823789 single base substitution G A upstream_gene_variant MELA-AU 7 139824000 139824000 single base substitution C T intron_variant MELA-AU 7 139824161 139824161 single base substitution G A intron_variant MELA-AU 7 139824210 139824210 single base substitution G A intron_variant MELA-AU 7 139824429 139824429 single base substitution A T missense_variant V348D 1043T>A MELA-AU 7 139825134 139825134 single base substitution T G intron_variant MELA-AU 7 139825239 139825239 single base substitution G A intron_variant MELA-AU 7 139825340 139825340 single base substitution G A intron_variant MELA-AU 7 139826151 139826151 single base substitution G A intron_variant MELA-AU 7 139826999 139826999 single base substitution G A intron_variant MELA-AU 7 139827450 139827450 single base substitution A T intron_variant MELA-AU 7 139827568 139827568 single base substitution A C intron_variant MELA-AU 7 139828462 139828462 single base substitution G T intron_variant MELA-AU 7 139828499 139828499 single base substitution G A intron_variant MELA-AU 7 139828598 139828598 single base substitution C T intron_variant MELA-AU 7 139828776 139828776 single base substitution C T intron_variant MELA-AU 7 139829146 139829146 single base substitution T G intron_variant MELA-AU 7 139829288 139829288 single base substitution C T splice_region_variant MELA-AU 7 139829691 139829692 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 7 139829849 139829849 single base substitution G A intron_variant MELA-AU 7 139830205 139830205 single base substitution G A intron_variant MELA-AU 7 139830250 139830250 single base substitution G C intron_variant MELA-AU 7 139831332 139831332 single base substitution C T intron_variant MELA-AU 7 139831624 139831624 single base substitution G A intron_variant MELA-AU 7 139831659 139831659 single base substitution G A intron_variant MELA-AU 7 139831840 139831840 single base substitution C T intron_variant MELA-AU 7 139831917 139831917 single base substitution G A intron_variant MELA-AU 7 139832022 139832022 single base substitution A C intron_variant MELA-AU 7 139832077 139832077 single base substitution G A intron_variant MELA-AU 7 139832297 139832297 single base substitution G A intron_variant MELA-AU 7 139832401 139832401 single base substitution G A intron_variant MELA-AU 7 139832510 139832510 single base substitution G A intron_variant MELA-AU 7 139832656 139832656 single base substitution G A intron_variant MELA-AU 7 139833101 139833101 single base substitution G A intron_variant MELA-AU 7 139833191 139833191 single base substitution C T intron_variant MELA-AU 7 139833651 139833651 single base substitution T A intron_variant MELA-AU 7 139833867 139833867 single base substitution T C intron_variant MELA-AU 7 139834083 139834083 single base substitution G A intron_variant MELA-AU 7 139834252 139834252 single base substitution G A intron_variant MELA-AU 7 139834624 139834624 single base substitution G A intron_variant MELA-AU 7 139834912 139834912 single base substitution C T intron_variant MELA-AU 7 139835483 139835483 single base substitution A G intron_variant MELA-AU 7 139836455 139836455 single base substitution G A intron_variant MELA-AU 7 139836694 139836694 single base substitution G A intron_variant MELA-AU 7 139836855 139836855 single base substitution G A intron_variant MELA-AU 7 139837443 139837443 single base substitution T C intron_variant MELA-AU 7 139837650 139837650 single base substitution G A intron_variant MELA-AU 7 139838780 139838780 single base substitution C T intron_variant MELA-AU 7 139838806 139838806 single base substitution A C intron_variant MELA-AU 7 139838848 139838848 single base substitution G A intron_variant MELA-AU 7 139839505 139839505 single base substitution G A intron_variant MELA-AU 7 139839582 139839582 single base substitution G A intron_variant MELA-AU 7 139839746 139839746 single base substitution G A intron_variant MELA-AU 7 139839912 139839912 single base substitution G A intron_variant MELA-AU 7 139839956 139839956 single base substitution C T intron_variant MELA-AU 7 139840456 139840456 single base substitution C T intron_variant MELA-AU 7 139840468 139840468 single base substitution G A intron_variant MELA-AU 7 139840903 139840903 single base substitution C A intron_variant MELA-AU 7 139840958 139840958 single base substitution G A intron_variant MELA-AU 7 139840980 139840980 single base substitution G A intron_variant MELA-AU 7 139841099 139841099 single base substitution G A intron_variant MELA-AU 7 139841415 139841415 single base substitution C T intron_variant MELA-AU 7 139841504 139841504 single base substitution G A intron_variant MELA-AU 7 139841815 139841815 single base substitution A C intron_variant MELA-AU 7 139842247 139842247 single base substitution G A intron_variant MELA-AU 7 139842838 139842838 single base substitution G A intron_variant MELA-AU 7 139842927 139842927 single base substitution C T intron_variant MELA-AU 7 139843053 139843053 single base substitution G A intron_variant MELA-AU 7 139844118 139844118 single base substitution G A intron_variant MELA-AU 7 139844144 139844144 single base substitution A G intron_variant MELA-AU 7 139844178 139844178 single base substitution G A intron_variant MELA-AU 7 139844245 139844245 single base substitution G A intron_variant MELA-AU 7 139844394 139844394 single base substitution G A intron_variant MELA-AU 7 139844484 139844484 single base substitution G A intron_variant MELA-AU 7 139844654 139844654 single base substitution T G intron_variant MELA-AU 7 139845058 139845058 single base substitution G A intron_variant MELA-AU 7 139845090 139845090 single base substitution G A intron_variant MELA-AU 7 139845485 139845485 single base substitution G A intron_variant MELA-AU 7 139845633 139845633 single base substitution A G intron_variant MELA-AU 7 139845708 139845708 single base substitution G A intron_variant MELA-AU 7 139845734 139845734 single base substitution A C intron_variant MELA-AU 7 139846163 139846163 single base substitution C T intron_variant MELA-AU 7 139846693 139846693 single base substitution G A intron_variant MELA-AU 7 139847177 139847177 single base substitution G A intron_variant MELA-AU 7 139847294 139847294 single base substitution G A intron_variant MELA-AU 7 139847439 139847439 single base substitution G A intron_variant MELA-AU 7 139849272 139849272 single base substitution G A intron_variant MELA-AU 7 139849410 139849410 single base substitution G A intron_variant MELA-AU 7 139849456 139849456 single base substitution T A intron_variant MELA-AU 7 139849537 139849537 single base substitution C T intron_variant MELA-AU 7 139850472 139850472 single base substitution G A intron_variant MELA-AU 7 139850939 139850939 single base substitution C T intron_variant MELA-AU 7 139851138 139851138 single base substitution A C intron_variant MELA-AU 7 139851175 139851175 single base substitution G A intron_variant MELA-AU 7 139852099 139852099 single base substitution G A intron_variant MELA-AU 7 139852200 139852200 single base substitution G A intron_variant MELA-AU 7 139852243 139852243 single base substitution G A intron_variant MELA-AU 7 139852789 139852789 single base substitution A G intron_variant MELA-AU 7 139852823 139852823 single base substitution C T intron_variant MELA-AU 7 139852928 139852928 single base substitution C T intron_variant MELA-AU 7 139852969 139852969 single base substitution G A intron_variant MELA-AU 7 139853981 139853981 single base substitution A T intron_variant MELA-AU 7 139854689 139854689 single base substitution G A intron_variant MELA-AU 7 139855340 139855340 single base substitution G A intron_variant MELA-AU 7 139856148 139856148 single base substitution T C intron_variant MELA-AU 7 139856445 139856445 single base substitution C T intron_variant MELA-AU 7 139856942 139856942 single base substitution C T intron_variant MELA-AU 7 139857154 139857154 single base substitution C A intron_variant MELA-AU 7 139857585 139857585 single base substitution G A intron_variant MELA-AU 7 139857589 139857589 single base substitution C A intron_variant MELA-AU 7 139857945 139857945 single base substitution G A intron_variant MELA-AU 7 139858319 139858319 single base substitution G A intron_variant MELA-AU 7 139859223 139859223 single base substitution G A intron_variant MELA-AU 7 139859274 139859274 single base substitution G A intron_variant MELA-AU 7 139860620 139860620 single base substitution G A intron_variant MELA-AU 7 139860919 139860919 single base substitution C T intron_variant MELA-AU 7 139861287 139861287 single base substitution G A intron_variant MELA-AU 7 139861335 139861335 single base substitution C T intron_variant MELA-AU 7 139861416 139861416 single base substitution C T intron_variant MELA-AU 7 139861999 139861999 single base substitution G A intron_variant MELA-AU 7 139862293 139862293 single base substitution A C intron_variant MELA-AU 7 139862436 139862436 single base substitution C T intron_variant MELA-AU 7 139862649 139862649 single base substitution G A intron_variant MELA-AU 7 139862919 139862919 single base substitution C T intron_variant MELA-AU 7 139862985 139862985 single base substitution G A intron_variant MELA-AU 7 139863097 139863097 single base substitution G A intron_variant MELA-AU 7 139863271 139863271 single base substitution G A intron_variant MELA-AU 7 139863317 139863318 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 139863711 139863711 single base substitution G A intron_variant MELA-AU 7 139864436 139864436 single base substitution G A intron_variant MELA-AU 7 139864575 139864575 single base substitution G A intron_variant MELA-AU 7 139865603 139865603 single base substitution G A intron_variant MELA-AU 7 139866202 139866202 single base substitution G A intron_variant MELA-AU 7 139866396 139866396 single base substitution C T intron_variant MELA-AU 7 139867353 139867353 single base substitution G A intron_variant MELA-AU 7 139867585 139867585 single base substitution A T intron_variant MELA-AU 7 139867983 139867983 single base substitution G A intron_variant MELA-AU 7 139870120 139870120 single base substitution G A intron_variant MELA-AU 7 139870397 139870397 single base substitution G A intron_variant MELA-AU 7 139870998 139870998 single base substitution C T intron_variant MELA-AU 7 139871374 139871374 single base substitution T A intron_variant MELA-AU 7 139871780 139871792 deletion of <=200bp TTGGGTATGTCTT - intron_variant MELA-AU 7 139872009 139872009 single base substitution G A intron_variant MELA-AU 7 139872156 139872156 single base substitution G A intron_variant MELA-AU 7 139872236 139872236 single base substitution G A intron_variant MELA-AU 7 139872396 139872397 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 139872440 139872440 single base substitution G A intron_variant MELA-AU 7 139872613 139872613 single base substitution G A intron_variant MELA-AU 7 139872654 139872654 single base substitution A G intron_variant MELA-AU 7 139872745 139872745 single base substitution G A intron_variant MELA-AU 7 139872943 139872943 single base substitution G A intron_variant MELA-AU 7 139872966 139872966 single base substitution C T intron_variant MELA-AU 7 139873224 139873225 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 139873403 139873403 single base substitution G A intron_variant MELA-AU 7 139873791 139873791 single base substitution C T intron_variant MELA-AU 7 139873791 139873792 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 139874608 139874608 single base substitution G A intron_variant MELA-AU 7 139874871 139874871 single base substitution T C intron_variant MELA-AU 7 139875089 139875089 single base substitution C A intron_variant MELA-AU 7 139875350 139875350 single base substitution A G intron_variant MELA-AU 7 139875404 139875404 single base substitution C T intron_variant MELA-AU 7 139877061 139877061 single base substitution G A upstream_gene_variant MELA-AU 7 139878245 139878245 single base substitution C T upstream_gene_variant MELA-AU 7 139878570 139878570 single base substitution G A upstream_gene_variant MELA-AU 7 139878741 139878741 single base substitution C T upstream_gene_variant MELA-AU 7 139879647 139879647 single base substitution G A upstream_gene_variant MELA-AU 7 139879828 139879828 single base substitution C T upstream_gene_variant MELA-AU 7 139879857 139879857 single base substitution G T upstream_gene_variant MELA-AU 7 139880004 139880004 single base substitution C T upstream_gene_variant MELA-AU 7 139880238 139880238 single base substitution C T upstream_gene_variant MELA-AU 7 139880319 139880319 single base substitution C T upstream_gene_variant MELA-AU 7 139880391 139880391 single base substitution C T upstream_gene_variant MELA-AU 7 139880504 139880504 single base substitution C T upstream_gene_variant MELA-AU 7 139880700 139880700 single base substitution G A upstream_gene_variant MELA-AU 7 139880766 139880766 single base substitution G A upstream_gene_variant MELA-AU 7 139880859 139880859 single base substitution G A upstream_gene_variant MELA-AU 7 139880955 139880955 single base substitution G A upstream_gene_variant MELA-AU 7 139881039 139881039 single base substitution C T upstream_gene_variant MELA-AU 7 139881205 139881205 single base substitution C T upstream_gene_variant MELA-AU 7 139881309 139881309 single base substitution A C upstream_gene_variant MELA-AU 7 139881450 139881450 single base substitution G A upstream_gene_variant MELA-AU 7 139881518 139881518 single base substitution G A upstream_gene_variant MELA-AU 7 139881751 139881751 single base substitution C G upstream_gene_variant MELA-AU 7 139881752 139881752 single base substitution T C upstream_gene_variant ORCA-IN 7 139814093 139814093 single base substitution G C intron_variant ORCA-IN 7 139820194 139820194 single base substitution C A intron_variant ORCA-IN 7 139820194 139820194 single base substitution C A upstream_gene_variant OV-AU 7 139787319 139787319 single base substitution G T 3_prime_UTR_variant OV-AU 7 139787319 139787319 single base substitution G T downstream_gene_variant OV-AU 7 139788264 139788264 single base substitution T C 3_prime_UTR_variant OV-AU 7 139788264 139788264 single base substitution T C downstream_gene_variant OV-AU 7 139789008 139789008 single base substitution C T 3_prime_UTR_variant OV-AU 7 139789008 139789008 single base substitution C T downstream_gene_variant OV-AU 7 139792060 139792060 single base substitution C G downstream_gene_variant OV-AU 7 139792060 139792060 single base substitution C G intron_variant OV-AU 7 139792060 139792060 single base substitution C G upstream_gene_variant OV-AU 7 139797402 139797402 single base substitution T C exon_variant OV-AU 7 139797402 139797402 single base substitution T C synonymous_variant S653S 1959A>G OV-AU 7 139805863 139805863 single base substitution T C intron_variant OV-AU 7 139814977 139814977 single base substitution G A intron_variant OV-AU 7 139821144 139821144 single base substitution T A intron_variant OV-AU 7 139821144 139821144 single base substitution T A upstream_gene_variant OV-AU 7 139821290 139821290 single base substitution C G intron_variant OV-AU 7 139821290 139821290 single base substitution C G upstream_gene_variant OV-AU 7 139833381 139833381 single base substitution G A missense_variant T119I 356C>T OV-AU 7 139839783 139839783 single base substitution G T intron_variant OV-AU 7 139840110 139840110 single base substitution A G intron_variant OV-AU 7 139845262 139845262 single base substitution C T intron_variant OV-AU 7 139847142 139847142 single base substitution T A intron_variant OV-AU 7 139847736 139847736 single base substitution C T intron_variant OV-AU 7 139854783 139854783 single base substitution C A intron_variant OV-AU 7 139854784 139854784 single base substitution T C intron_variant OV-AU 7 139859488 139859488 single base substitution T A intron_variant OV-AU 7 139861601 139861601 single base substitution C T intron_variant OV-AU 7 139861666 139861666 single base substitution T C intron_variant OV-AU 7 139863367 139863367 single base substitution C T intron_variant OV-AU 7 139865751 139865751 single base substitution C A intron_variant OV-AU 7 139868768 139868768 single base substitution G C intron_variant OV-AU 7 139878211 139878211 single base substitution T G upstream_gene_variant OV-US 7 139796808 139796808 single base substitution C T exon_variant OV-US 7 139796808 139796808 single base substitution C T missense_variant D686N 2056G>A OV-US 7 139796808 139796808 single base substitution C T upstream_gene_variant PACA-AU 7 139780098 139780098 deletion of <=200bp G - downstream_gene_variant PACA-AU 7 139781716 139781716 single base substitution C T downstream_gene_variant PACA-AU 7 139782522 139782522 single base substitution G A downstream_gene_variant PACA-AU 7 139782710 139782710 single base substitution C G downstream_gene_variant PACA-AU 7 139782926 139782926 single base substitution A T downstream_gene_variant PACA-AU 7 139790537 139790537 single base substitution A T 3_prime_UTR_variant PACA-AU 7 139790537 139790537 single base substitution A T downstream_gene_variant PACA-AU 7 139793700 139793700 single base substitution A G downstream_gene_variant PACA-AU 7 139793700 139793700 single base substitution A G intron_variant PACA-AU 7 139793700 139793700 single base substitution A G upstream_gene_variant PACA-AU 7 139805128 139805128 single base substitution G A intron_variant PACA-AU 7 139809494 139809494 single base substitution T C intron_variant PACA-AU 7 139812698 139812698 single base substitution T A intron_variant PACA-AU 7 139814114 139814114 single base substitution C A intron_variant PACA-AU 7 139816056 139816056 insertion of <=200bp - GT intron_variant PACA-AU 7 139816954 139816954 single base substitution T C intron_variant PACA-AU 7 139821167 139821167 single base substitution T G intron_variant PACA-AU 7 139821167 139821167 single base substitution T G upstream_gene_variant PACA-AU 7 139825935 139825935 single base substitution T C intron_variant PACA-AU 7 139826942 139826942 single base substitution G C intron_variant PACA-AU 7 139834640 139834640 single base substitution T G intron_variant PACA-AU 7 139841834 139841834 single base substitution A G intron_variant PACA-AU 7 139842233 139842233 single base substitution A C intron_variant PACA-AU 7 139843132 139843142 deletion of <=200bp GTTTCCTCTGA - intron_variant PACA-AU 7 139853689 139853689 single base substitution G A intron_variant PACA-AU 7 139854955 139854962 deletion of <=200bp CCAATTAC - intron_variant PACA-AU 7 139857035 139857035 single base substitution A C intron_variant PACA-AU 7 139857352 139857352 single base substitution G A intron_variant PACA-AU 7 139858387 139858387 single base substitution G A intron_variant PACA-AU 7 139859355 139859355 single base substitution T C intron_variant PACA-AU 7 139863465 139863465 single base substitution C T intron_variant PACA-AU 7 139867244 139867244 single base substitution C G intron_variant PACA-AU 7 139879844 139879844 single base substitution C T upstream_gene_variant PACA-CA 7 139779882 139779882 single base substitution A G downstream_gene_variant PACA-CA 7 139796925 139796925 single base substitution A G intron_variant PACA-CA 7 139796925 139796925 single base substitution A G upstream_gene_variant PACA-CA 7 139797699 139797699 single base substitution G A intron_variant PACA-CA 7 139797834 139797834 single base substitution C T intron_variant PACA-CA 7 139798667 139798667 deletion of <=200bp A - intron_variant PACA-CA 7 139799026 139799026 single base substitution G T intron_variant PACA-CA 7 139800497 139800497 deletion of <=200bp T - intron_variant PACA-CA 7 139801359 139801359 single base substitution T A intron_variant PACA-CA 7 139805003 139805003 single base substitution T G intron_variant PACA-CA 7 139807635 139807635 single base substitution G A intron_variant PACA-CA 7 139810796 139810796 single base substitution G A intron_variant PACA-CA 7 139811023 139811023 single base substitution T G intron_variant PACA-CA 7 139813744 139813744 single base substitution C T intron_variant PACA-CA 7 139820571 139820571 deletion of <=200bp T - intron_variant PACA-CA 7 139820571 139820571 deletion of <=200bp T - upstream_gene_variant PACA-CA 7 139821582 139821582 single base substitution G T intron_variant PACA-CA 7 139821582 139821582 single base substitution G T upstream_gene_variant PACA-CA 7 139822115 139822115 single base substitution A T intron_variant PACA-CA 7 139822115 139822115 single base substitution A T upstream_gene_variant PACA-CA 7 139824716 139824716 single base substitution A G intron_variant PACA-CA 7 139826765 139826765 single base substitution T C intron_variant PACA-CA 7 139829543 139829543 single base substitution G A intron_variant PACA-CA 7 139833211 139833211 single base substitution G A intron_variant PACA-CA 7 139834150 139834154 deletion of <=200bp ACTTA - intron_variant PACA-CA 7 139838212 139838212 single base substitution T G intron_variant PACA-CA 7 139840712 139840712 single base substitution C G intron_variant PACA-CA 7 139843939 139843939 single base substitution A G intron_variant PACA-CA 7 139851559 139851559 single base substitution A C intron_variant PACA-CA 7 139852832 139852832 single base substitution G C intron_variant PACA-CA 7 139857792 139857792 deletion of <=200bp A - intron_variant PACA-CA 7 139857798 139857798 insertion of <=200bp - AAATA intron_variant PACA-CA 7 139857998 139857998 single base substitution A G intron_variant PACA-CA 7 139865077 139865077 single base substitution A C intron_variant PACA-CA 7 139867899 139867899 single base substitution G T intron_variant PACA-CA 7 139868202 139868202 insertion of <=200bp - A intron_variant PACA-CA 7 139869037 139869037 single base substitution T C intron_variant PACA-CA 7 139869972 139869972 insertion of <=200bp - A intron_variant PACA-CA 7 139872488 139872488 single base substitution T C intron_variant PACA-CA 7 139874462 139874462 single base substitution G T intron_variant PACA-CA 7 139874463 139874463 single base substitution C T intron_variant PACA-CA 7 139880151 139880151 single base substitution G A upstream_gene_variant PAEN-AU 7 139787248 139787248 single base substitution C T 3_prime_UTR_variant PAEN-AU 7 139787248 139787248 single base substitution C T downstream_gene_variant PAEN-AU 7 139801166 139801166 single base substitution G A intron_variant PAEN-AU 7 139814093 139814093 single base substitution G C intron_variant PAEN-AU 7 139831290 139831290 single base substitution T G intron_variant PAEN-AU 7 139878027 139878027 single base substitution T C upstream_gene_variant PAEN-IT 7 139854490 139854490 single base substitution G T intron_variant PBCA-DE 7 139780808 139780808 single base substitution C T downstream_gene_variant PBCA-DE 7 139789840 139789840 single base substitution C A 3_prime_UTR_variant PBCA-DE 7 139789840 139789840 single base substitution C A downstream_gene_variant PBCA-DE 7 139797031 139797031 insertion of <=200bp - A intron_variant PBCA-DE 7 139798307 139798307 single base substitution T A intron_variant PBCA-DE 7 139798757 139798757 single base substitution T G exon_variant PBCA-DE 7 139798757 139798757 single base substitution T G missense_variant K614Q 1840A>C PBCA-DE 7 139807960 139807960 single base substitution G T intron_variant PBCA-DE 7 139811745 139811745 deletion of <=200bp A - intron_variant PBCA-DE 7 139813962 139813962 single base substitution T C intron_variant PBCA-DE 7 139814695 139814695 single base substitution A C intron_variant PBCA-DE 7 139816072 139816072 single base substitution G A intron_variant PBCA-DE 7 139817272 139817273 deletion of <=200bp GT - intron_variant PBCA-DE 7 139841341 139841341 single base substitution G A intron_variant PBCA-DE 7 139844511 139844512 deletion of <=200bp AC - intron_variant PBCA-DE 7 139849287 139849287 single base substitution A G intron_variant PBCA-DE 7 139857796 139857796 insertion of <=200bp - A intron_variant PBCA-DE 7 139859966 139859966 single base substitution C A intron_variant PBCA-DE 7 139865044 139865044 single base substitution A G intron_variant PBCA-DE 7 139866373 139866373 single base substitution C T intron_variant PBCA-DE 7 139875065 139875065 single base substitution C G intron_variant PRAD-CA 7 139781650 139781650 single base substitution C T downstream_gene_variant PRAD-CA 7 139782148 139782148 single base substitution C A downstream_gene_variant PRAD-CA 7 139787123 139787123 single base substitution A G 3_prime_UTR_variant PRAD-CA 7 139787123 139787123 single base substitution A G downstream_gene_variant PRAD-CA 7 139821969 139821969 single base substitution A G intron_variant PRAD-CA 7 139821969 139821969 single base substitution A G upstream_gene_variant PRAD-UK 7 139789909 139789909 single base substitution A T 3_prime_UTR_variant PRAD-UK 7 139789909 139789909 single base substitution A T downstream_gene_variant PRAD-UK 7 139796270 139796275 deletion of <=200bp ATCTCT - intron_variant PRAD-UK 7 139796270 139796275 deletion of <=200bp ATCTCT - upstream_gene_variant PRAD-UK 7 139800970 139800970 single base substitution C A intron_variant PRAD-UK 7 139829506 139829506 deletion of <=200bp A - intron_variant PRAD-UK 7 139852418 139852418 single base substitution C T intron_variant PRAD-UK 7 139864396 139864396 single base substitution G T intron_variant PRAD-UK 7 139867105 139867105 single base substitution T C intron_variant PRAD-UK 7 139871898 139871898 single base substitution A T intron_variant PRAD-US 7 139878082 139878089 deletion of <=200bp TCCCTCCC - upstream_gene_variant RECA-EU 7 139782597 139782597 single base substitution C T downstream_gene_variant RECA-EU 7 139784975 139784975 single base substitution C T 3_prime_UTR_variant RECA-EU 7 139812857 139812857 single base substitution T C intron_variant RECA-EU 7 139817361 139817361 single base substitution A G intron_variant RECA-EU 7 139817362 139817362 single base substitution A T intron_variant RECA-EU 7 139824484 139824484 single base substitution C G missense_variant D330H 988G>C RECA-EU 7 139845022 139845022 single base substitution G T intron_variant RECA-EU 7 139845756 139845756 single base substitution C A intron_variant RECA-EU 7 139848488 139848488 single base substitution C T intron_variant RECA-EU 7 139865767 139865767 single base substitution T A intron_variant RECA-EU 7 139865891 139865891 single base substitution A G intron_variant RECA-EU 7 139866082 139866082 single base substitution A C intron_variant RECA-EU 7 139874368 139874368 single base substitution C G intron_variant RECA-EU 7 139879118 139879118 single base substitution T G upstream_gene_variant SKCA-BR 7 139781226 139781226 single base substitution A G downstream_gene_variant SKCA-BR 7 139781329 139781329 single base substitution G A downstream_gene_variant SKCA-BR 7 139782146 139782146 insertion of <=200bp - AC downstream_gene_variant SKCA-BR 7 139784007 139784007 single base substitution C T downstream_gene_variant SKCA-BR 7 139785024 139785024 single base substitution C A 3_prime_UTR_variant SKCA-BR 7 139785859 139785859 single base substitution G A 3_prime_UTR_variant SKCA-BR 7 139785859 139785859 single base substitution G A downstream_gene_variant SKCA-BR 7 139786710 139786710 single base substitution T C 3_prime_UTR_variant SKCA-BR 7 139786710 139786710 single base substitution T C downstream_gene_variant SKCA-BR 7 139787299 139787299 single base substitution C T 3_prime_UTR_variant SKCA-BR 7 139787299 139787299 single base substitution C T downstream_gene_variant SKCA-BR 7 139788756 139788756 single base substitution G A 3_prime_UTR_variant SKCA-BR 7 139788756 139788756 single base substitution G A downstream_gene_variant SKCA-BR 7 139791049 139791049 single base substitution G A downstream_gene_variant SKCA-BR 7 139791049 139791049 single base substitution G A intron_variant SKCA-BR 7 139791109 139791109 single base substitution G A downstream_gene_variant SKCA-BR 7 139791109 139791109 single base substitution G A intron_variant SKCA-BR 7 139794604 139794604 single base substitution C T downstream_gene_variant SKCA-BR 7 139794604 139794604 single base substitution C T intron_variant SKCA-BR 7 139794604 139794604 single base substitution C T upstream_gene_variant SKCA-BR 7 139798166 139798166 single base substitution G A intron_variant SKCA-BR 7 139798460 139798460 single base substitution T C intron_variant SKCA-BR 7 139800479 139800481 deletion of <=200bp TAC - intron_variant SKCA-BR 7 139800487 139800489 deletion of <=200bp TAC - intron_variant SKCA-BR 7 139800554 139800554 insertion of <=200bp - TTTTG intron_variant SKCA-BR 7 139801222 139801222 single base substitution C T intron_variant SKCA-BR 7 139805663 139805663 single base substitution G A intron_variant SKCA-BR 7 139808146 139808146 single base substitution G A intron_variant SKCA-BR 7 139808921 139808921 single base substitution G A intron_variant SKCA-BR 7 139811092 139811092 single base substitution C T intron_variant SKCA-BR 7 139813843 139813843 single base substitution G A intron_variant SKCA-BR 7 139813874 139813874 single base substitution T G intron_variant SKCA-BR 7 139814204 139814204 single base substitution G A intron_variant SKCA-BR 7 139815604 139815604 insertion of <=200bp - TA intron_variant SKCA-BR 7 139815650 139815650 single base substitution G A intron_variant SKCA-BR 7 139815694 139815694 insertion of <=200bp - TA intron_variant SKCA-BR 7 139818052 139818052 single base substitution C T intron_variant SKCA-BR 7 139818341 139818341 single base substitution G A intron_variant SKCA-BR 7 139821673 139821673 single base substitution C T intron_variant SKCA-BR 7 139821673 139821673 single base substitution C T upstream_gene_variant SKCA-BR 7 139823869 139823871 deletion of <=200bp CAA - intron_variant SKCA-BR 7 139823869 139823871 deletion of <=200bp CAA - upstream_gene_variant SKCA-BR 7 139823885 139823887 deletion of <=200bp AGT - intron_variant SKCA-BR 7 139823885 139823887 deletion of <=200bp AGT - upstream_gene_variant SKCA-BR 7 139824401 139824401 single base substitution G A intron_variant SKCA-BR 7 139826263 139826263 single base substitution A T intron_variant SKCA-BR 7 139827329 139827329 single base substitution A T missense_variant M205K 614T>A SKCA-BR 7 139830752 139830752 single base substitution C T intron_variant SKCA-BR 7 139834853 139834853 single base substitution C A intron_variant SKCA-BR 7 139835705 139835705 insertion of <=200bp - GA intron_variant SKCA-BR 7 139837277 139837277 single base substitution C T intron_variant SKCA-BR 7 139838111 139838111 insertion of <=200bp - TA intron_variant SKCA-BR 7 139838514 139838514 single base substitution G A intron_variant SKCA-BR 7 139842702 139842703 deletion of <=200bp TA - intron_variant SKCA-BR 7 139847034 139847034 single base substitution T A intron_variant SKCA-BR 7 139847077 139847077 single base substitution G A intron_variant SKCA-BR 7 139850753 139850753 single base substitution T C intron_variant SKCA-BR 7 139852946 139852946 single base substitution T A intron_variant SKCA-BR 7 139853291 139853291 insertion of <=200bp - GA intron_variant SKCA-BR 7 139855048 139855048 single base substitution C T intron_variant SKCA-BR 7 139857795 139857795 insertion of <=200bp - TAAATA intron_variant SKCA-BR 7 139862104 139862104 single base substitution C A intron_variant SKCA-BR 7 139862105 139862105 single base substitution A T intron_variant SKCA-BR 7 139863083 139863083 single base substitution C T intron_variant SKCA-BR 7 139863914 139863914 single base substitution G A intron_variant SKCA-BR 7 139865545 139865545 single base substitution C G intron_variant SKCA-BR 7 139869492 139869492 single base substitution A T intron_variant SKCA-BR 7 139870864 139870870 deletion of <=200bp CCAACAA - intron_variant SKCA-BR 7 139871134 139871134 single base substitution T G intron_variant SKCA-BR 7 139871216 139871216 single base substitution C T intron_variant SKCA-BR 7 139874143 139874143 single base substitution G A intron_variant SKCA-BR 7 139876886 139876886 single base substitution A G upstream_gene_variant SKCA-BR 7 139878026 139878034 deletion of <=200bp CTTTCCTTT - upstream_gene_variant SKCA-BR 7 139878030 139878034 deletion of <=200bp CCTTT - upstream_gene_variant SKCA-BR 7 139878939 139878939 single base substitution C T upstream_gene_variant SKCA-BR 7 139878940 139878940 single base substitution C T upstream_gene_variant SKCA-BR 7 139880459 139880459 single base substitution T A upstream_gene_variant SKCA-BR 7 139880954 139880954 single base substitution G A upstream_gene_variant SKCM-US 7 139790936 139790936 single base substitution G A 3_prime_UTR_variant SKCM-US 7 139790936 139790936 single base substitution G A downstream_gene_variant SKCM-US 7 139790936 139790936 single base substitution G A exon_variant SKCM-US 7 139790936 139790936 single base substitution G A synonymous_variant I928I 2784C>T SKCM-US 7 139791834 139791834 single base substitution G A 3_prime_UTR_variant SKCM-US 7 139791834 139791834 single base substitution G A downstream_gene_variant SKCM-US 7 139791834 139791834 single base substitution G A exon_variant SKCM-US 7 139791834 139791834 single base substitution G A missense_variant S834L 2501C>T SKCM-US 7 139793864 139793864 single base substitution G A 3_prime_UTR_variant SKCM-US 7 139793864 139793864 single base substitution G A downstream_gene_variant SKCM-US 7 139793864 139793864 single base substitution G A missense_variant H817Y 2449C>T SKCM-US 7 139793864 139793864 single base substitution G A upstream_gene_variant SKCM-US 7 139796362 139796362 single base substitution C T exon_variant SKCM-US 7 139796362 139796362 single base substitution C T synonymous_variant V789V 2367G>A SKCM-US 7 139796362 139796362 single base substitution C T upstream_gene_variant SKCM-US 7 139796708 139796708 single base substitution G A exon_variant SKCM-US 7 139796708 139796708 single base substitution G A missense_variant P719L 2156C>T SKCM-US 7 139796708 139796708 single base substitution G A upstream_gene_variant SKCM-US 7 139797366 139797366 single base substitution G A exon_variant SKCM-US 7 139797366 139797366 single base substitution G A synonymous_variant S665S 1995C>T SKCM-US 7 139799824 139799824 single base substitution C T splice_acceptor_variant SKCM-US 7 139801761 139801761 single base substitution G A exon_variant SKCM-US 7 139801761 139801761 single base substitution G A missense_variant P543L 1628C>T SKCM-US 7 139801824 139801824 single base substitution G A exon_variant SKCM-US 7 139801824 139801824 single base substitution G A missense_variant P522L 1565C>T SKCM-US 7 139810919 139810919 single base substitution A G exon_variant SKCM-US 7 139810919 139810919 single base substitution A G synonymous_variant L468L 1404T>C SKCM-US 7 139818920 139818920 single base substitution G A exon_variant SKCM-US 7 139818920 139818920 single base substitution G A synonymous_variant T413T 1239C>T SKCM-US 7 139818971 139818971 single base substitution G A synonymous_variant F396F 1188C>T SKCM-US 7 139818971 139818971 single base substitution G A upstream_gene_variant SKCM-US 7 139819010 139819010 single base substitution C T synonymous_variant E383E 1149G>A SKCM-US 7 139819010 139819010 single base substitution C T upstream_gene_variant SKCM-US 7 139820289 139820289 single base substitution A C synonymous_variant A364A 1092T>G SKCM-US 7 139820289 139820289 single base substitution A C upstream_gene_variant SKCM-US 7 139824437 139824437 single base substitution G A synonymous_variant T345T 1035C>T SKCM-US 7 139824491 139824491 single base substitution G A synonymous_variant F327F 981C>T SKCM-US 7 139826443 139826443 single base substitution G A synonymous_variant V294V 882C>T SKCM-US 7 139826473 139826473 single base substitution G A synonymous_variant D284D 852C>T SKCM-US 7 139827337 139827337 single base substitution G T missense_variant D202E 606C>A SKCM-US 7 139833371 139833371 single base substitution G A synonymous_variant F122F 366C>T SKCM-US 7 139838968 139838968 single base substitution G A missense_variant H73Y 217C>T STAD-US 7 139790972 139790972 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 7 139790972 139790972 deletion of <=200bp T - downstream_gene_variant STAD-US 7 139790972 139790972 deletion of <=200bp T - exon_variant STAD-US 7 139790972 139790972 deletion of <=200bp T - frameshift_variant K916 STAD-US 7 139791694 139791694 single base substitution G A 3_prime_UTR_variant STAD-US 7 139791694 139791694 single base substitution G A downstream_gene_variant STAD-US 7 139791694 139791694 single base substitution G A exon_variant STAD-US 7 139791694 139791694 single base substitution G A missense_variant P881S 2641C>T STAD-US 7 139791763 139791763 single base substitution A G 3_prime_UTR_variant STAD-US 7 139791763 139791763 single base substitution A G downstream_gene_variant STAD-US 7 139791763 139791763 single base substitution A G exon_variant STAD-US 7 139791763 139791763 single base substitution A G missense_variant Y858H 2572T>C STAD-US 7 139791777 139791777 single base substitution A C 3_prime_UTR_variant STAD-US 7 139791777 139791777 single base substitution A C downstream_gene_variant STAD-US 7 139791777 139791777 single base substitution A C exon_variant STAD-US 7 139791777 139791777 single base substitution A C missense_variant L853R 2558T>G STAD-US 7 139797360 139797360 single base substitution G A exon_variant STAD-US 7 139797360 139797360 single base substitution G A synonymous_variant P667P 2001C>T STAD-US 7 139798732 139798732 single base substitution T C exon_variant STAD-US 7 139798732 139798732 single base substitution T C missense_variant E622G 1865A>G STAD-US 7 139826486 139826486 single base substitution T A missense_variant D280V 839A>T STAD-US 7 139826622 139826622 single base substitution T A missense_variant M235L 703A>T STAD-US 7 139829297 139829297 single base substitution A G synonymous_variant Y185Y 555T>C STAD-US 7 139829334 139829334 single base substitution G T missense_variant P173H 518C>A STAD-US 7 139829343 139829343 single base substitution A C missense_variant L170R 509T>G STAD-US 7 139833448 139833448 deletion of <=200bp T - frameshift_variant R97 UCEC-US 7 139791617 139791617 single base substitution G T 3_prime_UTR_variant UCEC-US 7 139791617 139791617 single base substitution G T downstream_gene_variant UCEC-US 7 139791617 139791617 single base substitution G T exon_variant UCEC-US 7 139791617 139791617 single base substitution G T missense_variant N906K 2718C>A UCEC-US 7 139796398 139796398 single base substitution A G exon_variant UCEC-US 7 139796398 139796398 single base substitution A G synonymous_variant H777H 2331T>C UCEC-US 7 139796398 139796398 single base substitution A G upstream_gene_variant UCEC-US 7 139801801 139801801 single base substitution G T exon_variant UCEC-US 7 139801801 139801801 single base substitution G T missense_variant L530I 1588C>A UCEC-US 7 139801846 139801846 single base substitution G A exon_variant UCEC-US 7 139801846 139801846 single base substitution G A stop_gained R515* 1543C>T UCEC-US 7 139810902 139810902 single base substitution G A exon_variant UCEC-US 7 139810902 139810902 single base substitution G A missense_variant A474V 1421C>T UCEC-US 7 139829361 139829361 single base substitution T G missense_variant K164T 491A>C UCEC-US 7 139833439 139833439 single base substitution A G missense_variant W100R 298T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-ER-A195-06 COSM3634201 c.1035C>T p.T345T Substitution - coding silent 7:140124637-140124637 - TCGA-AC-A23H-01 COSM3832057 c.1652C>G p.S551C Substitution - Missense 7:140100010-140100010 - 49M COSM5591421 c.2441C>T p.S814F Substitution - Missense 7:140094072-140094072 - TCGA-D3-A1QB-06 COSM3922829 c.606C>A p.D202E Substitution - Missense 7:140127537-140127537 - ESCC_BICR_029T COSM5443437 c.1523G>A p.R508Q Substitution - Missense 7:140102066-140102066 - C086 COSM5532956 c.1465C>T p.P489S Substitution - Missense 7:140102124-140102124 - TCGA-66-2756-01 COSM745375 c.796G>A p.V266I Substitution - Missense 7:140126729-140126729 - LUAD-LIP77 COSM342565 c.927A>G p.E309E Substitution - coding silent 7:140124745-140124745 - TCGA-DI-A0WH-01 COSM1086201 c.2331T>C p.H777H Substitution - coding silent 7:140096598-140096598 - CCK81 COSM2861158 c.233A>G p.D78G Substitution - Missense 7:140139152-140139152 - T2269 COSM4693821 c.2046A>G p.E682E Substitution - coding silent 7:140097018-140097018 - PT09_2 COSM5894869 c.724C>T p.P242S Substitution - Missense 7:140126801-140126801 - TCGA-HT-7882-01 COSM3928853 c.1365T>G p.I455M Substitution - Missense 7:140111158-140111158 - BN24 COSM1622430 c.2752A>G p.M918V Substitution - Missense 7:140091168-140091168 - TCGA-EE-A2GE-06 COSM3634204 c.366C>T p.F122F Substitution - coding silent 7:140133571-140133571 - TCGA-CM-6165-01 COSM1448544 c.731T>C p.I244T Substitution - Missense 7:140126794-140126794 - PT09_1 COSM5894869 c.724C>T p.P242S Substitution - Missense 7:140126801-140126801 - TCGA-06-0237-01 COSM2151062 c.2813G>A p.R938H Substitution - Missense 7:140091107-140091107 - TCGA-HU-A4GQ-01 COSM3878702 c.2001C>T p.P667P Substitution - coding silent 7:140097560-140097560 - PDA_083 COSM321080 c.1930C>A p.R644S Substitution - Missense 7:140097631-140097631 - TCGA-BC-4073-01 COSM4937028 c.1140-1G>T p.? Unknown 7:140119220-140119220 - TCGA-FS-A1Z3-06 COSM3634200 c.1188C>T p.F396F Substitution - coding silent 7:140119171-140119171 - 9227_T COSM5042085 c.1714G>A p.A572T Substitution - Missense 7:140099948-140099948 - SNU-C4 COSM1448536 c.2748delA p.G917fs*15 Deletion - Frameshift 7:140091172-140091172 - TCGA-33-4566-01 COSM745374 c.769G>C p.D257H Substitution - Missense 7:140126756-140126756 - PD4980a COSM5802603 c.1925_1926insT p.T643fs*10 Insertion - Frameshift 7:140097635-140097636 - PT16_1 COSM5898333 c.2180C>T p.S727L Substitution - Missense 7:140096749-140096749 - Sample_1 COSM4997685 c.2514G>A p.Q838Q Substitution - coding silent 7:140092021-140092021 - CML042T COSM5802867 c.1023G>A p.K341K Substitution - coding silent 7:140124649-140124649 - STC246 COSM5062235 c.2755G>A p.A919T Substitution - Missense 7:140091165-140091165 - HCC74T COSM1622429 c.2807A>T p.H936L Substitution - Missense 7:140091113-140091113 - TCGA-AO-A0JL-01 COSM452454 c.2357A>C p.D786A Substitution - Missense 7:140096572-140096572 - TCGA-D1-A17M-01 COSM1086208 c.298T>C p.W100R Substitution - Missense 7:140133639-140133639 - SJMB008 COSM255467 c.845A>C p.H282P Substitution - Missense 7:140126680-140126680 - ESCC_43 COSM5629913 c.730A>G p.I244V Substitution - Missense 7:140126795-140126795 - TCGA-EE-A2MS-06 COSM3634203 c.882C>T p.V294V Substitution - coding silent 7:140126643-140126643 - ESCC_143 COSM5644433 c.665T>G p.V222G Substitution - Missense 7:140127478-140127478 - TCGA-02-0055-01 COSM2149056 c.938G>A p.R313H Substitution - Missense 7:140124734-140124734 - CSCC-11-T COSM4477059 c.2118C>T p.F706F Substitution - coding silent 7:140096946-140096946 - TCGA-CD-A4MG-01 COSM3878707 c.518C>A p.P173H Substitution - Missense 7:140129534-140129534 - TCGA-CD-5803-01 COSM3878706 c.555T>C p.Y185Y Substitution - coding silent 7:140129497-140129497 - TCGA-AD-6890-01 COSM1448541 c.1317A>T p.L439F Substitution - Missense 7:140113512-140113512 - TCGA-CW-5588-01 COSM484935 c.1297A>G p.K433E Substitution - Missense 7:140113532-140113532 - 2_tFL COSM4171641 c.1625G>A p.C542Y Substitution - Missense 7:140101964-140101964 - 2_FL COSM4171641 c.1625G>A p.C542Y Substitution - Missense 7:140101964-140101964 - 82 COSM5014014 c.1192T>C p.F398L Substitution - Missense 7:140119167-140119167 - TCGA-EE-A2MG-06 COSM3634194 c.2156C>T p.P719L Substitution - Missense 7:140096908-140096908 - ESCC-235T COSM3942073 c.2227G>C p.G743R Substitution - Missense 7:140096702-140096702 - TCGA-DD-A3A2-01 COSM4928976 c.1819G>A p.E607K Substitution - Missense 7:140098978-140098978 - GHE0609 COSM5714265 c.898A>C p.I300L Substitution - Missense 7:140124774-140124774 - TCGA-AG-3894-01 COSM5069474 c.1101_1102insG p.N368fs*7 Insertion - Frameshift 7:140120479-140120480 - PT09_2 COSM5894868 c.725C>T p.P242L Substitution - Missense 7:140126800-140126800 - sysucc-311T COSM5467038 c.1715C>T p.A572V Substitution - Missense 7:140099947-140099947 - 2492711 COSM5606646 c.784C>T p.P262S Substitution - Missense 7:140126741-140126741 - TCGA-BS-A0U8-01 COSM1086203 c.1551T>C p.H517H Substitution - coding silent 7:140102038-140102038 - Pat_16_B COSM5871986 c.2656T>G p.S886A Substitution - Missense 7:140091879-140091879 - CSCC-46-T COSM2861118 c.2687G>T p.R896I Substitution - Missense 7:140091848-140091848 - TCGA-02-0055 COSM2149056 c.938G>A p.R313H Substitution - Missense 7:140124734-140124734 - TCGA-EE-A2GO-06 COSM3634193 c.2449C>T p.H817Y Substitution - Missense 7:140094064-140094064 - TCGA-A3-3363-01 COSM1086204 c.1543C>T p.R515* Substitution - Nonsense 7:140102046-140102046 - S00842 COSM5662307 c.1933G>T p.V645L Substitution - Missense 7:140097628-140097628 - T95 COSM4693823 c.1763A>C p.K588T Substitution - Missense 7:140099899-140099899 - TCGA-DK-A1AC-01 COSM1312743 c.272C>A p.S91Y Substitution - Missense 7:140139113-140139113 - TCGA-G2-A3IE-01 COSM1312742 c.1673A>G p.N558S Substitution - Missense 7:140099989-140099989 - TCGA-B0-4694-01 COSM1448544 c.731T>C p.I244T Substitution - Missense 7:140126794-140126794 - Au8 COSM5606646 c.784C>T p.P262S Substitution - Missense 7:140126741-140126741 - ESCC-010T COSM3942072 c.2562G>A p.Q854Q Substitution - coding silent 7:140091973-140091973 - AOCS-086-1-5 COSM4153885 c.356C>T p.T119I Substitution - Missense 7:140133581-140133581 - 2492712 COSM5606646 c.784C>T p.P262S Substitution - Missense 7:140126741-140126741 - TCGA-D5-6535-01 COSM1448538 c.1903C>G p.Q635E Substitution - Missense 7:140098894-140098894 - TCGA-G4-6320-01 COSM3698218 c.2042C>T p.S681F Substitution - Missense 7:140097022-140097022 - PT46 COSM5928937 c.650C>T p.P217L Substitution - Missense 7:140127493-140127493 - PT21_2 COSM5901498 c.559+5G>A p.? Unknown 7:140129488-140129488 - CSCC-7-T COSM4475297 c.1979C>T p.S660F Substitution - Missense 7:140097582-140097582 - LUAD-NYU201 COSM371480 c.2193G>T p.E731D Substitution - Missense 7:140096736-140096736 - 2492714 COSM5606646 c.784C>T p.P262S Substitution - Missense 7:140126741-140126741 - T3118 COSM4693826 c.1168delA p.T390fs*17 Deletion - Frameshift 7:140119191-140119191 - 721LT COSM321080 c.1930C>A p.R644S Substitution - Missense 7:140097631-140097631 - HCC30 COSM1622431 c.2627T>A p.L876Q Substitution - Missense 7:140091908-140091908 - 2293782 COSM4609299 c.1888G>T p.E630* Substitution - Nonsense 7:140098909-140098909 - CSCC-56-T COSM4480380 c.2414C>G p.S805C Substitution - Missense 7:140094099-140094099 - CHC892T COSM4959175 c.2187C>T p.S729S Substitution - coding silent 7:140096742-140096742 - J46_T COSM3950032 c.697A>T p.T233S Substitution - Missense 7:140127446-140127446 - 587342 COSM1211257 c.2543G>A p.S848N Substitution - Missense 7:140091992-140091992 - TCGA-EB-A431-01 COSM3634195 c.1995C>T p.S665S Substitution - coding silent 7:140097566-140097566 - TCGA-EE-A3JD-06 COSM4396491 c.2784C>T p.I928I Substitution - coding silent 7:140091136-140091136 - Pat_70_A COSM5871987 c.2414C>T p.S805F Substitution - Missense 7:140094099-140094099 - PT37 COSM5919345 c.281-4C>T p.? Unknown 7:140133660-140133660 - TCGA-B5-A11E-01 COSM1086202 c.1588C>A p.L530I Substitution - Missense 7:140102001-140102001 - TCGA-G4-6310-01 COSM1448547 c.178G>T p.D60Y Substitution - Missense 7:140176760-140176760 - SJMB008 COSM255467 c.845A>C p.H282P Substitution - Missense 7:140126680-140126680 - SNUH_G45_S1 COSM150401 c.303C>T p.H101H Substitution - coding silent 7:140133634-140133634 - 2334187 COSM321080 c.1930C>A p.R644S Substitution - Missense 7:140097631-140097631 - TCGA-76-4929-01 COSM2149056 c.938G>A p.R313H Substitution - Missense 7:140124734-140124734 - TCGA-CC-A3M9-01 COSM4928530 c.2604G>A p.A868A Substitution - coding silent 7:140091931-140091931 - XHDG22 COSM4769003 c.1369G>C p.D457H Substitution - Missense 7:140111154-140111154 - ACINAR28 COSM1733249 c.2351G>A p.R784H Substitution - Missense 7:140096578-140096578 - AOCS-166-1-2 COSM4153884 c.1959A>G p.S653S Substitution - coding silent 7:140097602-140097602 - HDC87 COSM4637170 c.1065T>C p.A355A Substitution - coding silent 7:140120516-140120516 - 3844_T COSM3950031 c.2082C>T p.S694S Substitution - coding silent 7:140096982-140096982 - AOCS-086-3-2 COSM4153885 c.356C>T p.T119I Substitution - Missense 7:140133581-140133581 - TCGA-D3-A1QB-06 COSM3634198 c.1404T>C p.L468L Substitution - coding silent 7:140111119-140111119 - 2492713 COSM5606646 c.784C>T p.P262S Substitution - Missense 7:140126741-140126741 - WA18 COSM237580 c.1716G>A p.A572A Substitution - coding silent 7:140099946-140099946 - CSCC-11-T COSM4466124 c.1417C>T p.R473* Substitution - Nonsense 7:140111106-140111106 - pfg009T COSM1643264 c.2696C>T p.S899L Substitution - Missense 7:140091839-140091839 - TCGA-A2-A04T-01 COSM3832058 c.1553A>G p.N518S Substitution - Missense 7:140102036-140102036 - GC8_T COSM150401 c.303C>T p.H101H Substitution - coding silent 7:140133634-140133634 - TCGA-CD-A4MG-01 COSM3878703 c.1865A>G p.E622G Substitution - Missense 7:140098932-140098932 - TCGA-BR-6452-01 COSM3878705 c.703A>T p.M235L Substitution - Missense 7:140126822-140126822 - pfg127T COSM4761976 c.1558C>T p.R520* Substitution - Nonsense 7:140102031-140102031 - T2197 COSM4693824 c.1522C>T p.R508* Substitution - Nonsense 7:140102067-140102067 - TCGA-D3-A2JN-06 COSM3634196 c.1639-1G>A p.? Unknown 7:140100024-140100024 - TCGA-AX-A0J0-01 COSM1086207 c.491A>C p.K164T Substitution - Missense 7:140129561-140129561 - YUOTHO COSM1086204 c.1543C>T p.R515* Substitution - Nonsense 7:140102046-140102046 - LUAD_E00623 COSM354564 c.856G>T p.G286C Substitution - Missense 7:140126669-140126669 - 61 COSM5738191 c.1420G>A p.A474T Substitution - Missense 7:140111103-140111103 - NCI-H460 COSM1673589 c.2263C>T p.Q755* Substitution - Nonsense 7:140096666-140096666 - TCGA-D1-A16X-01 COSM1086204 c.1543C>T p.R515* Substitution - Nonsense 7:140102046-140102046 - TCGA-DK-A3IU-01 COSM3778159 c.780C>G p.V260V Substitution - coding silent 7:140126745-140126745 - Pat_41_B COSM5871988 c.2288G>A p.R763K Substitution - Missense 7:140096641-140096641 - RK070_C01 COSM3745561 c.1643T>C p.I548T Substitution - Missense 7:140100019-140100019 - TCGA-CD-A4MG-01 COSM3878708 c.509T>G p.L170R Substitution - Missense 7:140129543-140129543 - TCGA-EB-A3Y7-01 COSM3634205 c.217C>T p.H73Y Substitution - Missense 7:140139168-140139168 - TCGA-C5-A3HE-01 COSM321080 c.1930C>A p.R644S Substitution - Missense 7:140097631-140097631 - PD6016a2 COSM5788484 c.1618G>C p.E540Q Substitution - Missense 7:140101971-140101971 - PT09_1 COSM5894868 c.725C>T p.P242L Substitution - Missense 7:140126800-140126800 - TCGA-66-2781-01 COSM745377 c.2647G>A p.G883S Substitution - Missense 7:140091888-140091888 - HCC72 COSM1622432 c.2437A>G p.T813A Substitution - Missense 7:140094076-140094076 - S01578 COSM5670662 c.829delA p.S277fs*27 Deletion - Frameshift 7:140126696-140126696 - TCGA-FW-A3R5-06 COSM3922828 c.852C>T p.D284D Substitution - coding silent 7:140126673-140126673 - C0084T COSM4155629 c.988G>C p.D330H Substitution - Missense 7:140124684-140124684 - L07 COSM5368799 c.1600delG p.E534fs*6 Deletion - Frameshift 7:140101989-140101989 - TCGA-AD-6548-01 COSM1448535 c.2805C>T p.G935G Substitution - coding silent 7:140091115-140091115 - CPCG0184-P4 COSM321080 c.1930C>A p.R644S Substitution - Missense 7:140097631-140097631 - I2L-P24Ta-Tumor-Organoid COSM5358261 c.2243C>T p.T748M Substitution - Missense 7:140096686-140096686 - CHC892T COSM4959175 c.2187C>T p.S729S Substitution - coding silent 7:140096742-140096742 - TCGA-DC-5869-01 COSM5076769 c.1926delT p.F642fs*4 Deletion - Frameshift 7:140097635-140097635 - TCGA-CS-4938-01 COSM3928854 c.952A>C p.S318R Substitution - Missense 7:140124720-140124720 - pfg068T COSM4761975 c.1909C>A p.P637T Substitution - Missense 7:140098888-140098888 - Pat_16_A COSM5871986 c.2656T>G p.S886A Substitution - Missense 7:140091879-140091879 - BHY COSM2861116 c.2776G>C p.G926R Substitution - Missense 7:140091144-140091144 - LP6007398-DNA_A01 COSM5951726 c.1816A>C p.N606H Substitution - Missense 7:140098981-140098981 - HCC30T COSM1622431 c.2627T>A p.L876Q Substitution - Missense 7:140091908-140091908 - PT35 COSM5912617 c.2458-7C>T p.? Unknown 7:140092084-140092084 - TCGA-EE-A20C-06 COSM3634197 c.1628C>T p.P543L Substitution - Missense 7:140101961-140101961 - TCGA-CG-4442-01 COSM3878704 c.839A>T p.D280V Substitution - Missense 7:140126686-140126686 - Pat_41_B COSM5871989 c.1339C>T p.L447F Substitution - Missense 7:140111184-140111184 - S00472 COSM312110 c.1333A>G p.K445E Substitution - Missense 7:140113496-140113496 - ME011T COSM224335 c.517C>T p.P173S Substitution - Missense 7:140129535-140129535 - TCGA-FW-A3R5-06 COSM3922827 c.1565C>T p.P522L Substitution - Missense 7:140102024-140102024 - 8 COSM5732469 c.950G>A p.W317* Substitution - Nonsense 7:140124722-140124722 - TCGA-CD-8535-01 COSM3878699 c.2641C>T p.P881S Substitution - Missense 7:140091894-140091894 - HCC112T COSM5818700 c.1561A>T p.T521S Substitution - Missense 7:140102028-140102028 - TCGA-AP-A051-01 COSM1086200 c.2718C>A p.N906K Substitution - Missense 7:140091817-140091817 - TCGA-GF-A6C9-06 COSM4900557 c.2367G>A p.V789V Substitution - coding silent 7:140096562-140096562 - 08-230 COSM305571 c.2738G>A p.R913H Substitution - Missense 7:140091182-140091182 - TCGA-D1-A103-01 COSM1086205 c.1421C>T p.A474V Substitution - Missense 7:140111102-140111102 - T272 COSM4693827 c.920delC p.T307fs*15 Deletion - Frameshift 7:140124752-140124752 - YUROG COSM5406665 c.2658C>T p.S886S Substitution - coding silent 7:140091877-140091877 - TCGA-EE-A2MF-06 COSM4892595 c.1092T>G p.A364A Substitution - coding silent 7:140120489-140120489 - T1764 COSM4693825 c.1438G>A p.G480S Substitution - Missense 7:140102151-140102151 - TCGA-CM-4746-01 COSM1448542 c.1159A>G p.R387G Substitution - Missense 7:140119200-140119200 - TCGA-B5-A0K9-01 COSM1086206 c.1128C>T p.G376G Substitution - coding silent 7:140120453-140120453 - PT25 COSM5904874 c.2294C>T p.S765F Substitution - Missense 7:140096635-140096635 - S02286 COSM5685469 c.2421G>T p.W807C Substitution - Missense 7:140094092-140094092 - HCC72T COSM1622432 c.2437A>G p.T813A Substitution - Missense 7:140094076-140094076 - TCGA-06-0209-01 COSM3411660 c.752T>A p.V251E Substitution - Missense 7:140126773-140126773 - TCGA-12-5301-01 COSM2861153 c.379C>T p.R127C Substitution - Missense 7:140133558-140133558 - T3152 COSM4693822 c.1969T>C p.S657P Substitution - Missense 7:140097592-140097592 - TCGA-AM-5820-01 COSM3762429 c.1612A>C p.R538R Substitution - coding silent 7:140101977-140101977 - TCGA-FU-A3HY-01 COSM4838583 c.2661C>T p.F887F Substitution - coding silent 7:140091874-140091874 - PD6684a COSM5791631 c.1554T>C p.N518N Substitution - coding silent 7:140102035-140102035 - LUAD-B00859 COSM332486 c.2217G>C p.L739L Substitution - coding silent 7:140096712-140096712 - TCGA-F1-6874-01 COSM3878701 c.2558T>G p.L853R Substitution - Missense 7:140091977-140091977 - Au1 COSM4466124 c.1417C>T p.R473* Substitution - Nonsense 7:140111106-140111106 - TCGA-DM-A1D9-01 COSM1448543 c.936A>T p.A312A Substitution - coding silent 7:140124736-140124736 - CSCC-11-T COSM4558069 c.753G>A p.V251V Substitution - coding silent 7:140126772-140126772 - TCGA-EE-A3JD-06 COSM4395908 c.1149G>A p.E383E Substitution - coding silent 7:140119210-140119210 - TCGA-EK-A2RA-01 COSM4769003 c.1369G>C p.D457H Substitution - Missense 7:140111154-140111154 - TCGA-FS-A1ZZ-06 COSM3634199 c.1239C>T p.T413T Substitution - coding silent 7:140119120-140119120 - TCGA-AG-A002-01 COSM261477 c.2798G>T p.R933I Substitution - Missense 7:140091122-140091122 - Pat_70_B COSM5871987 c.2414C>T p.S805F Substitution - Missense 7:140094099-140094099 - HCC125T COSM5822580 c.128G>A p.R43Q Substitution - Missense 7:140176810-140176810 - TCGA-23-1124-01 COSM75061 c.2056G>A p.D686N Substitution - Missense 7:140097008-140097008 - S00472 COSM312110 c.1333A>G p.K445E Substitution - Missense 7:140113496-140113496 - pfg043T COSM4761977 c.1541T>G p.L514R Substitution - Missense 7:140102048-140102048 - TCGA-70-6722-01 COSM745376 c.2434G>C p.D812H Substitution - Missense 7:140094079-140094079 - PT16_1 COSM5898332 c.1484C>T p.S495L Substitution - Missense 7:140102105-140102105 - TCGA-AD-6964-01 COSM1448545 c.552T>C p.R184R Substitution - coding silent 7:140129500-140129500 - BN24T COSM1622430 c.2752A>G p.M918V Substitution - Missense 7:140091168-140091168 - TCGA-E9-A1NE-01 COSM5229914 c.914delA p.K305fs*17 Deletion - Frameshift 7:140124758-140124758 - T3262 COSM4693820 c.2354A>G p.Y785C Substitution - Missense 7:140096575-140096575 - I2L-P24Ta-Tumor-Biopsy COSM5358261 c.2243C>T p.T748M Substitution - Missense 7:140096686-140096686 - TCGA-EE-A29V-06 COSM3634192 c.2501C>T p.S834L Substitution - Missense 7:140092034-140092034 - TCGA-FS-A4FC-06 COSM3634202 c.981C>T p.F327F Substitution - coding silent 7:140124691-140124691 - TCGA-CG-4305-01 COSM3878700 c.2572T>C p.Y858H Substitution - Missense 7:140091963-140091963 - TCGA-DD-A4NF-01 COSM4912791 c.920C>T p.T307I Substitution - Missense 7:140124752-140124752 - TCGA-DD-A4NN-01 COSM4935246 c.156G>C p.M52I Substitution - Missense 7:140176782-140176782 - S01578 COSM5670661 c.831_832delCT p.S277fs*7 Deletion - Frameshift 7:140126693-140126694 - TCGA-AM-5820-01 COSM321080 c.1930C>A p.R644S Substitution - Missense 7:140097631-140097631 - TCGA-06-0237 COSM2151062 c.2813G>A p.R938H Substitution - Missense 7:140091107-140091107 - HCC74 COSM1622429 c.2807A>T p.H936L Substitution - Missense 7:140091113-140091113 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.308629;Hs.308630;Hs.308632;Hs.308641;Hs.308662;Hs.308665;Hs.308695;Hs.308710 7q34

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L853R c.2558T>G 7 139791777 STAD A C Synonymous p.A364A c.1092T>G 7 139820289 CM A G Missense p.W100R c.298T>C 7 139833439 UCEC A G Missense p.Y858H c.2572T>C 7 139791763 STAD A G Synonymous p.H777H c.2331T>C 7 139796398 UCEC A G Synonymous p.L468L c.1404T>C 7 139810919 CM A G Synonymous p.L931L c.2791T>C 7 139790929 CM A G Synonymous p.Y185Y c.555T>C 7 139829297 STAD - A Nonsense p.E454*fs*1 c.1359dupT 7 139810964 HNSC A T 3-UTRSNV . c.2823+5252T>A 7 139785645 HC ATCGT - IntronicDeletion . c.888+160_888+164delACGAT 7 139826273 CLL A T Missense p.V251E c.752T>A 7 139826573 GBM C A Synonymous p.S727S c.2181G>T 7 139796548 CM C - Frameshift p.E632Kfs*7 c.1894delG 7 139798703 RCCC C - Frameshift p.S842Ifs*23 c.2525delG 7 139791810 LUAD C G Missense p.D812H c.2434G>C 7 139793879 LUSC C T 3-UTRSNV . c.2823+110G>A 7 139790787 HC C T Missense p.D686N c.2056G>A 7 139796808 OV C T Missense p.E478K c.1432G>A 7 139801957 HNSC C T Missense p.G883S c.2647G>A 7 139791688 LUSC C T Missense p.R313H c.938G>A 7 139824534 GBM C T Missense p.R520Q c.1559G>A 7 139801830 CM C T Missense p.R938H c.2813G>A 7 139790907 GBM C T Missense p.V266I c.796G>A 7 139826529 LUSC C T Synonymous p.E383E c.1149G>A 7 139819010 CM G A IntronicSNV . c.195-16632C>T 7 139855622 PIA G A IntronicSNV . c.2458-7C>T 7 139791884 CM G A Missense p.H817Y c.2449C>T 7 139793864 CM G A Missense p.P173S c.517C>T 7 139829335 CM G A Missense p.P217S c.649C>T 7 139827294 HNSC G A Missense p.P397S c.1189C>T 7 139818970 CM G A Missense p.P543L c.1628C>T 7 139801761 CM G A Missense p.P719L c.2156C>T 7 139796708 CM G A Missense p.R127C c.379C>T 7 139833358 GBM G A Missense p.S112F c.335C>T 7 139833402 LUAD G A Missense p.S497F c.1490C>T 7 139801899 CM G A Missense p.S565F c.1694C>T 7 139799768 CM G A Missense p.S653L c.1958C>T 7 139797403 CM G A Missense p.S834L c.2501C>T 7 139791834 CM G A Missense p.S899L c.2696C>T 7 139791639 STAD G A Synonymous p.F122F c.366C>T 7 139833371 CM G A Synonymous p.F396F c.1188C>T 7 139818971 CM G A Synonymous p.I928I c.2784C>T 7 139790936 CM G A Synonymous p.P262P c.786C>T 7 139826539 CM G A Synonymous p.S747S c.2241C>T 7 139796488 HNSC G A Synonymous p.T345T c.1035C>T 7 139824437 CM G A Synonymous p.T413T c.1239C>T 7 139818920 CM G A Synonymous p.V294V c.882C>T 7 139826443 CM G C Synonymous p.V260V c.780C>G 7 139826545 BLCA G T Missense p.D202E c.606C>A 7 139827337 CM G T Missense p.R644S c.1930C>A 7 139797431 SCLC G T Nonsense p.S888* c.2663C>A 7 139791672 LUAD T A Missense p.D110V c.329A>T 7 139833408 LUAD T A Missense p.K124M c.371A>T 7 139833366 HNSC T C Missense p.K140R c.419A>G 7 139829433 HNSC T C Missense p.K445E c.1333A>G 7 139813296 SCLC T C Missense p.N558S c.1673A>G 7 139799789 BLCA T G Missense p.D786A c.2357A>C 7 139796372 BRCA T G Missense p.S318R c.952A>C 7 139824520 LGG