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 23 48676461 48676461 + Missense_Mutation SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chrX:48676461G>T c.1939G>T c.(1939-1941)Gat>Tat p.D647Y ACC 23 48676475 48676475 + Missense_Mutation SNP C C A TCGA-OR-A5L9-01A-11D-A29I-10 TCGA-OR-A5L9-10B-01D-A29L-10 g.chrX:48676475C>A c.1953C>A c.(1951-1953)caC>caA p.H651Q ACC 23 48678641 48678641 + Silent SNP C C A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chrX:48678641C>A c.2316C>A c.(2314-2316)ggC>ggA p.G772G BLCA 23 48666514 48666514 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 g.chrX:48666514G>T c.707G>T c.(706-708)cGc>cTc p.R236L BLCA 23 48666705 48666705 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chrX:48666705A>G c.778A>G c.(778-780)Aca>Gca p.T260A BLCA 23 48673145 48673145 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 g.chrX:48673145G>C c.997G>C c.(997-999)Gag>Cag p.E333Q BLCA 23 48673272 48673272 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chrX:48673272G>A c.1031G>A c.(1030-1032)gGa>gAa p.G344E BLCA 23 48674019 48674019 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 g.chrX:48674019G>C c.1294G>C c.(1294-1296)Gag>Cag p.E432Q BLCA 23 48674404 48674404 + Missense_Mutation SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chrX:48674404C>T c.1438C>T c.(1438-1440)Cgc>Tgc p.R480C BLCA 23 48674935 48674935 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 g.chrX:48674935G>C c.1686G>C c.(1684-1686)gaG>gaC p.E562D BLCA 23 48676746 48676746 + Nonsense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 g.chrX:48676746G>A c.2114G>A c.(2113-2115)tGg>tAg p.W705* BLCA 23 48678570 48678570 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 g.chrX:48678570C>T c.2245C>T c.(2245-2247)Ctg>Ttg p.L749L BLCA 23 48681429 48681429 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chrX:48681429G>T c.2620G>T c.(2620-2622)Gtt>Ttt p.V874F BLCA 23 48681849 48681849 + Missense_Mutation SNP G G T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 g.chrX:48681849G>T c.3040G>T c.(3040-3042)Ggg>Tgg p.G1014W BLCA 23 48682372 48682372 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 g.chrX:48682372A>G c.3344A>G c.(3343-3345)cAt>cGt p.H1115R BLCA 23 48682410 48682410 + Missense_Mutation SNP G G C TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chrX:48682410G>C c.3382G>C c.(3382-3384)Gac>Cac p.D1128H BRCA 23 48661392 48661392 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 g.chrX:48661392G>A c.208G>A c.(208-210)Gga>Aga p.G70R BRCA 23 48665033 48665033 + Silent SNP C C A TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 g.chrX:48665033C>A c.552C>A c.(550-552)gcC>gcA p.A184A BRCA 23 48672886 48672886 + Missense_Mutation SNP G G T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 g.chrX:48672886G>T c.846G>T c.(844-846)agG>agT p.R282S BRCA 23 48672895 48672895 + Silent SNP C C T TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 g.chrX:48672895C>T c.855C>T c.(853-855)ccC>ccT p.P285P BRCA 23 48672897 48672897 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chrX:48672897A>C c.857A>C c.(856-858)cAc>cCc p.H286P BRCA 23 48672897 48672897 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chrX:48672897A>C c.857A>C c.(856-858)cAc>cCc p.H286P BRCA 23 48674948 48674948 + Missense_Mutation SNP G G T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 g.chrX:48674948G>T c.1699G>T c.(1699-1701)Gac>Tac p.D567Y BRCA 23 48675747 48675747 + Silent SNP T T A TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 g.chrX:48675747T>A c.1806T>A c.(1804-1806)gcT>gcA p.A602A BRCA 23 48678572 48678572 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chrX:48678572delG c.2247delG c.(2245-2247)ctgfs p.L749fs BRCA 23 48678616 48678616 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chrX:48678616A>C c.2291A>C c.(2290-2292)cAc>cCc p.H764P BRCA 23 48681327 48681327 + Missense_Mutation SNP G G C TCGA-AR-A0TX-01A-11D-A099-09 TCGA-AR-A0TX-10A-01D-A099-09 g.chrX:48681327G>C c.2518G>C c.(2518-2520)Gaa>Caa p.E840Q BRCA 23 48681345 48681345 + Missense_Mutation SNP T T A TCGA-OL-A5D8-01A-11D-A27P-09 TCGA-OL-A5D8-10A-01D-A27P-09 g.chrX:48681345T>A c.2536T>A c.(2536-2538)Tcc>Acc p.S846T BRCA 23 48681410 48681410 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chrX:48681410G>A c.2601G>A c.(2599-2601)atG>atA p.M867I BRCA 23 48681418 48681418 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chrX:48681418G>A c.2609G>A c.(2608-2610)cGa>cAa p.R870Q BRCA 23 48681535 48681535 + Missense_Mutation SNP A A T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 g.chrX:48681535A>T c.2726A>T c.(2725-2727)cAg>cTg p.Q909L BRCA 23 48681900 48681901 + Frame_Shift_Ins INS - - C TCGA-BH-A0GZ-01A-11W-A071-09 TCGA-BH-A0GZ-10A-01W-A071-09 g.chrX:48681900_48681901insC c.3091_3092insC c.(3091-3093)accfs p.T1031fs BRCA 23 48681900 48681901 + Frame_Shift_Ins INS - - C TCGA-E9-A1NI-01A-11W-A16H-09 TCGA-E9-A1NI-10A-01D-A17G-09 g.chrX:48681900_48681901insC c.3091_3092insC c.(3091-3093)accfs p.T1031fs BRCA 23 48681990 48681990 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 g.chrX:48681990G>A c.3181G>A c.(3181-3183)Gaa>Aaa p.E1061K BRCA 23 48682346 48682346 + Silent SNP T T C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 g.chrX:48682346T>C c.3318T>C c.(3316-3318)gcT>gcC p.A1106A BRCA 23 48682594 48682594 + Missense_Mutation SNP A A G TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 g.chrX:48682594A>G c.3469A>G c.(3469-3471)Atc>Gtc p.I1157V CESC 23 48663867 48663867 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chrX:48663867C>A c.334C>A c.(334-336)Ctc>Atc p.L112I CESC 23 48674575 48674575 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chrX:48674575C>G c.1521C>G c.(1519-1521)atC>atG p.I507M CESC 23 48676649 48676649 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chrX:48676649C>T c.2017C>T c.(2017-2019)Cgc>Tgc p.R673C CESC 23 48681793 48681793 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 g.chrX:48681793C>T c.2984C>T c.(2983-2985)tCg>tTg p.S995L CHOL 23 48661354 48661354 + Missense_Mutation SNP A A C TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chrX:48661354A>C c.170A>C c.(169-171)aAg>aCg p.K57T COAD 23 48661609 48661609 + Silent SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chrX:48661609C>T c.297C>T c.(295-297)tgC>tgT p.C99C COAD 23 48673091 48673091 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chrX:48673091C>T c.943C>T c.(943-945)Cgg>Tgg p.R315W COAD 23 48673139 48673139 + Missense_Mutation SNP G G A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chrX:48673139G>A c.991G>A c.(991-993)Gcc>Acc p.A331T COAD 23 48674340 48674340 + Silent SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chrX:48674340C>T c.1374C>T c.(1372-1374)agC>agT p.S458S COAD 23 48675012 48675012 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chrX:48675012G>A c.1763G>A c.(1762-1764)cGc>cAc p.R588H COAD 23 48678569 48678569 + Silent SNP G G T TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chrX:48678569G>T c.2244G>T c.(2242-2244)ccG>ccT p.P748P COAD 23 48678572 48678572 + Frame_Shift_Del DEL G G - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chrX:48678572delG c.2247delG c.(2245-2247)ctgfs p.L749fs COAD 23 48678598 48678598 + Missense_Mutation SNP G G T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chrX:48678598G>T c.2273G>T c.(2272-2274)gGt>gTt p.G758V COAD 23 48678599 48678599 + Silent SNP T T C TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chrX:48678599T>C c.2274T>C c.(2272-2274)ggT>ggC p.G758G COAD 23 48681849 48681849 + Missense_Mutation SNP G G A TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chrX:48681849G>A c.3040G>A c.(3040-3042)Ggg>Agg p.G1014R COAD 23 48682588 48682588 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chrX:48682588C>T c.3463C>T c.(3463-3465)Cgt>Tgt p.R1155C COADREAD 23 48661318 48661318 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:48661318C>A c.134C>A c.(133-135)cCc>cAc p.P45H COADREAD 23 48661609 48661609 + Silent SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chrX:48661609C>T c.297C>T c.(295-297)tgC>tgT p.C99C COADREAD 23 48673091 48673091 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chrX:48673091C>T c.943C>T c.(943-945)Cgg>Tgg p.R315W COADREAD 23 48673139 48673139 + Missense_Mutation SNP G G A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chrX:48673139G>A c.991G>A c.(991-993)Gcc>Acc p.A331T COADREAD 23 48674340 48674340 + Silent SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chrX:48674340C>T c.1374C>T c.(1372-1374)agC>agT p.S458S COADREAD 23 48675012 48675012 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chrX:48675012G>A c.1763G>A c.(1762-1764)cGc>cAc p.R588H COADREAD 23 48676708 48676708 + Silent SNP C C A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chrX:48676708C>A c.2076C>A c.(2074-2076)ggC>ggA p.G692G COADREAD 23 48678569 48678569 + Silent SNP G G T TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chrX:48678569G>T c.2244G>T c.(2242-2244)ccG>ccT p.P748P COADREAD 23 48678572 48678572 + Frame_Shift_Del DEL G G - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chrX:48678572delG c.2247delG c.(2245-2247)ctgfs p.L749fs COADREAD 23 48678598 48678598 + Missense_Mutation SNP G G T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chrX:48678598G>T c.2273G>T c.(2272-2274)gGt>gTt p.G758V COADREAD 23 48678599 48678599 + Silent SNP T T C TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chrX:48678599T>C c.2274T>C c.(2272-2274)ggT>ggC p.G758G COADREAD 23 48681849 48681849 + Missense_Mutation SNP G G A TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chrX:48681849G>A c.3040G>A c.(3040-3042)Ggg>Agg p.G1014R COADREAD 23 48681938 48681938 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:48681938G>T c.3129G>T c.(3127-3129)caG>caT p.Q1043H COADREAD 23 48682588 48682588 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chrX:48682588C>T c.3463C>T c.(3463-3465)Cgt>Tgt p.R1155C ESCA 23 48664042 48664042 + Missense_Mutation SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 g.chrX:48664042G>A c.401G>A c.(400-402)cGg>cAg p.R134Q ESCA 23 48676794 48676794 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 g.chrX:48676794G>A c.2162G>A c.(2161-2163)cGc>cAc p.R721H ESCA 23 48681613 48681613 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chrX:48681613G>T c.2804G>T c.(2803-2805)gGc>gTc p.G935V GBM 23 48661362 48661362 + Missense_Mutation SNP G G A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 g.chrX:48661362G>A c.178G>A c.(178-180)Ggc>Agc p.G60S GBM 23 48681101 48681101 + Silent SNP A A C TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 g.chrX:48681101A>C c.2409A>C c.(2407-2409)ccA>ccC p.P803P GBMLGG 23 48661362 48661362 + Missense_Mutation SNP G G A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 g.chrX:48661362G>A c.178G>A c.(178-180)Ggc>Agc p.G60S GBMLGG 23 48663861 48663861 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:48663861G>A c.328G>A c.(328-330)Gag>Aag p.E110K GBMLGG 23 48681101 48681101 + Silent SNP A A C TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 g.chrX:48681101A>C c.2409A>C c.(2407-2409)ccA>ccC p.P803P GBMLGG 23 48682404 48682404 + Missense_Mutation SNP G G T TCGA-FG-5965-01B-11D-1893-08 TCGA-FG-5965-10A-01D-1893-08 g.chrX:48682404G>T c.3376G>T c.(3376-3378)Ggc>Tgc p.G1126C GBMLGG 23 48682452 48682452 + Missense_Mutation SNP A A G TCGA-DU-6401-01A-11D-1705-08 TCGA-DU-6401-10A-01D-1705-08 g.chrX:48682452A>G c.3424A>G c.(3424-3426)Aat>Gat p.N1142D HNSC 23 48661586 48661586 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chrX:48661586G>A c.274G>A c.(274-276)Gag>Aag p.E92K HNSC 23 48665100 48665100 + Missense_Mutation SNP A A T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 g.chrX:48665100A>T c.619A>T c.(619-621)Atg>Ttg p.M207L HNSC 23 48672940 48672940 + Silent SNP C C A TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chrX:48672940C>A c.900C>A c.(898-900)ggC>ggA p.G300G HNSC 23 48674002 48674002 + Missense_Mutation SNP G G T TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chrX:48674002G>T c.1277G>T c.(1276-1278)tGt>tTt p.C426F HNSC 23 48678561 48678561 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chrX:48678561G>T c.2236G>T c.(2236-2238)Ggg>Tgg p.G746W HNSC 23 48681334 48681334 + Missense_Mutation SNP G G T TCGA-CV-7248-01A-11D-2012-08 TCGA-CV-7248-10A-01D-2013-08 g.chrX:48681334G>T c.2525G>T c.(2524-2526)aGa>aTa p.R842I HNSC 23 48681696 48681696 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chrX:48681696G>C c.2887G>C c.(2887-2889)Gac>Cac p.D963H HNSC 23 48682632 48682632 + Silent SNP A A T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 g.chrX:48682632A>T c.3507A>T c.(3505-3507)ggA>ggT p.G1169G HNSC 23 48683003 48683003 + Missense_Mutation SNP A A T TCGA-C9-A47Z-01A-11D-A24D-08 TCGA-C9-A47Z-10A-01D-A24F-08 g.chrX:48683003A>T c.3629A>T c.(3628-3630)gAt>gTt p.D1210V KIPAN 23 48661330 48661330 + Missense_Mutation SNP A A G TCGA-SX-A7SS-01A-11D-A35Z-10 TCGA-SX-A7SS-10A-01D-A35Z-10 g.chrX:48661330A>G c.146A>G c.(145-147)gAg>gGg p.E49G KIPAN 23 48674573 48674573 + Missense_Mutation SNP A A G TCGA-BP-5187-01A-01D-1429-08 TCGA-BP-5187-11A-01D-1429-08 g.chrX:48674573A>G c.1519A>G c.(1519-1521)Atc>Gtc p.I507V KIPAN 23 48674583 48674583 + Missense_Mutation SNP T T C TCGA-BP-5173-01A-01D-1429-08 TCGA-BP-5173-11A-01D-1429-08 g.chrX:48674583T>C c.1529T>C c.(1528-1530)aTc>aCc p.I510T KIPAN 23 48674608 48674608 + Silent SNP C C T TCGA-CJ-6027-01A-11D-1669-08 TCGA-CJ-6027-11A-01D-1669-08 g.chrX:48674608C>T c.1554C>T c.(1552-1554)ggC>ggT p.G518G KIPAN 23 48676773 48676773 + Missense_Mutation SNP A A G TCGA-AT-A5NU-01A-11D-A28G-10 TCGA-AT-A5NU-10A-01D-A28G-10 g.chrX:48676773A>G c.2141A>G c.(2140-2142)gAc>gGc p.D714G KIPAN 23 48681371 48681371 + Silent SNP G G A TCGA-B0-4823-01A-02D-1421-08 TCGA-B0-4823-11A-01D-1421-08 g.chrX:48681371G>A c.2562G>A c.(2560-2562)aaG>aaA p.K854K KIPAN 23 48681739 48681739 + Missense_Mutation SNP G G A TCGA-BP-4176-01A-02D-1366-10 TCGA-BP-4176-11A-01D-1366-10 g.chrX:48681739G>A c.2930G>A c.(2929-2931)gGc>gAc p.G977D KIPAN 23 48682180 48682180 + Silent SNP G G A TCGA-EV-5903-01A-11D-1589-08 TCGA-EV-5903-10A-01D-1589-08 g.chrX:48682180G>A c.3288G>A c.(3286-3288)agG>agA p.R1096R KIRC 23 48674573 48674573 + Missense_Mutation SNP A A G TCGA-BP-5187-01A-01D-1429-08 TCGA-BP-5187-11A-01D-1429-08 g.chrX:48674573A>G c.1519A>G c.(1519-1521)Atc>Gtc p.I507V KIRC 23 48674583 48674583 + Missense_Mutation SNP T T C TCGA-BP-5173-01A-01D-1429-08 TCGA-BP-5173-11A-01D-1429-08 g.chrX:48674583T>C c.1529T>C c.(1528-1530)aTc>aCc p.I510T KIRC 23 48674608 48674608 + Silent SNP C C T TCGA-CJ-6027-01A-11D-1669-08 TCGA-CJ-6027-11A-01D-1669-08 g.chrX:48674608C>T c.1554C>T c.(1552-1554)ggC>ggT p.G518G KIRC 23 48681371 48681371 + Silent SNP G G A TCGA-B0-4823-01A-02D-1421-08 TCGA-B0-4823-11A-01D-1421-08 g.chrX:48681371G>A c.2562G>A c.(2560-2562)aaG>aaA p.K854K KIRC 23 48681739 48681739 + Missense_Mutation SNP G G A TCGA-BP-4176-01A-02D-1366-10 TCGA-BP-4176-11A-01D-1366-10 g.chrX:48681739G>A c.2930G>A c.(2929-2931)gGc>gAc p.G977D KIRP 23 48661330 48661330 + Missense_Mutation SNP A A G TCGA-SX-A7SS-01A-11D-A35Z-10 TCGA-SX-A7SS-10A-01D-A35Z-10 g.chrX:48661330A>G c.146A>G c.(145-147)gAg>gGg p.E49G KIRP 23 48676773 48676773 + Missense_Mutation SNP A A G TCGA-AT-A5NU-01A-11D-A28G-10 TCGA-AT-A5NU-10A-01D-A28G-10 g.chrX:48676773A>G c.2141A>G c.(2140-2142)gAc>gGc p.D714G KIRP 23 48682180 48682180 + Silent SNP G G A TCGA-EV-5903-01A-11D-1589-08 TCGA-EV-5903-10A-01D-1589-08 g.chrX:48682180G>A c.3288G>A c.(3286-3288)agG>agA p.R1096R LGG 23 48663861 48663861 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:48663861G>A c.328G>A c.(328-330)Gag>Aag p.E110K LGG 23 48682404 48682404 + Missense_Mutation SNP G G T TCGA-FG-5965-01B-11D-1893-08 TCGA-FG-5965-10A-01D-1893-08 g.chrX:48682404G>T c.3376G>T c.(3376-3378)Ggc>Tgc p.G1126C LGG 23 48682452 48682452 + Missense_Mutation SNP A A G TCGA-DU-6401-01A-11D-1705-08 TCGA-DU-6401-10A-01D-1705-08 g.chrX:48682452A>G c.3424A>G c.(3424-3426)Aat>Gat p.N1142D LIHC 23 48661166 48661166 + Frame_Shift_Del DEL C C - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chrX:48661166delC c.67delC c.(67-69)cccfs p.P24fs LIHC 23 48661183 48661183 + Silent SNP T T C TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chrX:48661183T>C c.84T>C c.(82-84)agT>agC p.S28S LIHC 23 48661291 48661291 + Missense_Mutation SNP A A G TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chrX:48661291A>G c.107A>G c.(106-108)aAa>aGa p.K36R LIHC 23 48663924 48663924 + Missense_Mutation SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chrX:48663924T>C c.391T>C c.(391-393)Ttt>Ctt p.F131L LIHC 23 48672876 48672876 + Missense_Mutation SNP A A G TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chrX:48672876A>G c.836A>G c.(835-837)gAg>gGg p.E279G LIHC 23 48673109 48673109 + Missense_Mutation SNP G G T TCGA-DD-AADM-01A-11D-A40R-10 TCGA-DD-AADM-10A-01D-A40U-10 g.chrX:48673109G>T c.961G>T c.(961-963)Gct>Tct p.A321S LIHC 23 48675759 48675759 + Silent SNP T T C TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chrX:48675759T>C c.1818T>C c.(1816-1818)cgT>cgC p.R606R LIHC 23 48678643 48678643 + Missense_Mutation SNP G G T TCGA-2Y-A9H5-01A-11D-A382-10 TCGA-2Y-A9H5-10A-01D-A385-10 g.chrX:48678643G>T c.2318G>T c.(2317-2319)cGc>cTc p.R773L LIHC 23 48681555 48681555 + Frame_Shift_Del DEL G G - TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chrX:48681555delG c.2746delG c.(2746-2748)gggfs p.G917fs LUAD 23 48661318 48661318 + Missense_Mutation SNP C C G TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chrX:48661318C>G c.134C>G c.(133-135)cCc>cGc p.P45R LUAD 23 48661577 48661577 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 g.chrX:48661577G>T c.265G>T c.(265-267)Gtg>Ttg p.V89L LUAD 23 48663850 48663850 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chrX:48663850C>G c.317C>G c.(316-318)cCg>cGg p.P106R LUAD 23 48663851 48663851 + Silent SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 g.chrX:48663851G>T c.318G>T c.(316-318)ccG>ccT p.P106P LUAD 23 48663929 48663929 + Splice_Site SNP G G C TCGA-55-A494-01A-11D-A24P-08 TCGA-55-A494-10A-01D-A24P-08 g.chrX:48663929G>C c.396G>C c.(394-396)caG>caC p.Q132H LUAD 23 48665048 48665048 + Silent SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 g.chrX:48665048C>T c.567C>T c.(565-567)ggC>ggT p.G189G LUAD 23 48666690 48666690 + Missense_Mutation SNP C C A TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chrX:48666690C>A c.763C>A c.(763-765)Cac>Aac p.H255N LUAD 23 48673864 48673864 + Missense_Mutation SNP C C A TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chrX:48673864C>A c.1223C>A c.(1222-1224)cCc>cAc p.P408H LUAD 23 48676754 48676754 + Frame_Shift_Del DEL C C - TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chrX:48676754delC c.2122delC c.(2122-2124)cccfs p.P708fs LUAD 23 48678626 48678626 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chrX:48678626G>T c.2301G>T c.(2299-2301)atG>atT p.M767I LUAD 23 48681203 48681203 + Splice_Site SNP G G T TCGA-J2-A4AD-01A-11D-A24D-08 TCGA-J2-A4AD-10A-01D-A24F-08 g.chrX:48681203G>T c.2511G>T c.(2509-2511)atG>atT p.M837I LUAD 23 48681322 48681322 + Splice_Site SNP A A G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 g.chrX:48681322A>G c.2513A>G c.(2512-2514)aAg>aGg p.K838R LUAD 23 48681414 48681414 + Missense_Mutation SNP A A T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 g.chrX:48681414A>T c.2605A>T c.(2605-2607)Aca>Tca p.T869S LUAD 23 48682427 48682427 + Nonsense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 g.chrX:48682427T>A c.3399T>A c.(3397-3399)tgT>tgA p.C1133* LUAD 23 48683010 48683010 + Silent SNP C C T TCGA-69-7974-01A-11D-2184-08 TCGA-69-7974-10A-01D-2184-08 g.chrX:48683010C>T c.3636C>T c.(3634-3636)ccC>ccT p.P1212P OV 23 48664776 48664776 + Splice_Site SNP C C T TCGA-13-0904-01A-02W-0420-08 TCGA-13-0904-10A-01D-0399-08 g.chrX:48664776C>T c.439C>T c.(439-441)Cta>Tta p.L147L OV 23 48674576 48674576 + Silent SNP T T C TCGA-13-0904-01A-02W-0420-08 TCGA-13-0904-10A-01D-0399-08 g.chrX:48674576T>C c.1522T>C c.(1522-1524)Ttg>Ctg p.L508L OV 23 48678567 48678567 + Missense_Mutation SNP C C A TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 g.chrX:48678567C>A c.2242C>A c.(2242-2244)Ccg>Acg p.P748T OV 23 48678597 48678597 + Missense_Mutation SNP G G A TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 g.chrX:48678597G>A c.2272G>A c.(2272-2274)Ggt>Agt p.G758S OV 23 48682136 48682136 + Missense_Mutation SNP G G A TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 g.chrX:48682136G>A c.3244G>A c.(3244-3246)Gga>Aga p.G1082R PAAD 23 48674663 48674663 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:48674663C>T c.1609C>T c.(1609-1611)Ctc>Ttc p.L537F PRAD 23 48673084 48673084 + Frame_Shift_Del DEL G G - TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 g.chrX:48673084delG c.936delG c.(934-936)gtgfs p.V312fs PRAD 23 48673411 48673411 + Missense_Mutation SNP C C T TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 g.chrX:48673411C>T c.1102C>T c.(1102-1104)Cac>Tac p.H368Y PRAD 23 48674947 48674947 + Missense_Mutation SNP T T G TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 g.chrX:48674947T>G c.1698T>G c.(1696-1698)ttT>ttG p.F566L PRAD 23 48674948 48674948 + Missense_Mutation SNP G G C TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 g.chrX:48674948G>C c.1699G>C c.(1699-1701)Gac>Cac p.D567H READ 23 48661318 48661318 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:48661318C>A c.134C>A c.(133-135)cCc>cAc p.P45H READ 23 48676708 48676708 + Silent SNP C C A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chrX:48676708C>A c.2076C>A c.(2074-2076)ggC>ggA p.G692G READ 23 48681938 48681938 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:48681938G>T c.3129G>T c.(3127-3129)caG>caT p.Q1043H SARC 23 48678568 48678568 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 g.chrX:48678568C>T c.2243C>T c.(2242-2244)cCg>cTg p.P748L SARC 23 48682631 48682631 + Missense_Mutation SNP G G T TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 g.chrX:48682631G>T c.3506G>T c.(3505-3507)gGa>gTa p.G1169V SKCM 23 48663912 48663912 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chrX:48663912C>T c.379C>T c.(379-381)Cgc>Tgc p.R127C SKCM 23 48665055 48665055 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 g.chrX:48665055C>T c.574C>T c.(574-576)Ctc>Ttc p.L192F SKCM 23 48666444 48666444 + Missense_Mutation SNP C C A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:48666444C>A c.637C>A c.(637-639)Cct>Act p.P213T SKCM 23 48674442 48674442 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chrX:48674442C>T c.1476C>T c.(1474-1476)caC>caT p.H492H SKCM 23 48674977 48674977 + Silent SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chrX:48674977C>T c.1728C>T c.(1726-1728)ttC>ttT p.F576F SKCM 23 48681101 48681101 + Silent SNP A A C TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 g.chrX:48681101A>C c.2409A>C c.(2407-2409)ccA>ccC p.P803P SKCM 23 48681152 48681152 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chrX:48681152C>T c.2460C>T c.(2458-2460)atC>atT p.I820I SKCM 23 48681659 48681659 + Silent SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chrX:48681659G>A c.2850G>A c.(2848-2850)caG>caA p.Q950Q SKCM 23 48681693 48681693 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chrX:48681693C>T c.2884C>T c.(2884-2886)Ctg>Ttg p.L962L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN X 48681692 48681692 single base substitution T G downstream_gene_variant BLCA-CN X 48681692 48681692 single base substitution T G exon_variant BLCA-CN X 48681692 48681692 single base substitution T G missense_variant I961M 2883T>G BLCA-CN X 48681692 48681692 single base substitution T G missense_variant I975M 2925T>G BLCA-CN X 48681692 48681692 single base substitution T G upstream_gene_variant BLCA-CN X 48681697 48681697 single base substitution A G downstream_gene_variant BLCA-CN X 48681697 48681697 single base substitution A G exon_variant BLCA-CN X 48681697 48681697 single base substitution A G missense_variant D963G 2888A>G BLCA-CN X 48681697 48681697 single base substitution A G missense_variant D977G 2930A>G BLCA-CN X 48681697 48681697 single base substitution A G upstream_gene_variant BLCA-US X 48666514 48666514 single base substitution G T downstream_gene_variant BLCA-US X 48666514 48666514 single base substitution G T exon_variant BLCA-US X 48666514 48666514 single base substitution G T missense_variant R181L 542G>T BLCA-US X 48666514 48666514 single base substitution G T missense_variant R236L 707G>T BLCA-US X 48666514 48666514 single base substitution G T missense_variant R250L 749G>T BLCA-US X 48682372 48682372 single base substitution A G downstream_gene_variant BLCA-US X 48682372 48682372 single base substitution A G exon_variant BLCA-US X 48682372 48682372 single base substitution A G intron_variant BLCA-US X 48682372 48682372 single base substitution A G missense_variant H1115R 3344A>G BLCA-US X 48682372 48682372 single base substitution A G missense_variant H1129R 3386A>G BRCA-EU X 48657387 48657387 single base substitution T A upstream_gene_variant BRCA-EU X 48658274 48658274 single base substitution G C upstream_gene_variant BRCA-EU X 48658365 48658365 single base substitution G A upstream_gene_variant BRCA-EU X 48658366 48658366 single base substitution G T upstream_gene_variant BRCA-EU X 48658688 48658688 single base substitution C G upstream_gene_variant BRCA-EU X 48659919 48659919 single base substitution G A 5_prime_UTR_variant BRCA-EU X 48659919 48659919 single base substitution G A intron_variant BRCA-EU X 48659919 48659919 single base substitution G A upstream_gene_variant BRCA-EU X 48661747 48661747 single base substitution G A downstream_gene_variant BRCA-EU X 48661747 48661747 single base substitution G A exon_variant BRCA-EU X 48661747 48661747 single base substitution G A intron_variant BRCA-EU X 48661747 48661747 single base substitution G A upstream_gene_variant BRCA-EU X 48662587 48662587 single base substitution A T downstream_gene_variant BRCA-EU X 48662587 48662587 single base substitution A T intron_variant BRCA-EU X 48662587 48662587 single base substitution A T upstream_gene_variant BRCA-EU X 48662626 48662626 single base substitution G A downstream_gene_variant BRCA-EU X 48662626 48662626 single base substitution G A intron_variant BRCA-EU X 48662626 48662626 single base substitution G A upstream_gene_variant BRCA-EU X 48662998 48662998 single base substitution G T downstream_gene_variant BRCA-EU X 48662998 48662998 single base substitution G T intron_variant BRCA-EU X 48662998 48662998 single base substitution G T upstream_gene_variant BRCA-EU X 48663218 48663218 single base substitution A C downstream_gene_variant BRCA-EU X 48663218 48663218 single base substitution A C intron_variant BRCA-EU X 48663218 48663218 single base substitution A C upstream_gene_variant BRCA-EU X 48664920 48664920 single base substitution C A downstream_gene_variant BRCA-EU X 48664920 48664920 single base substitution C A exon_variant BRCA-EU X 48664920 48664920 single base substitution C A intron_variant BRCA-EU X 48665399 48665399 single base substitution C T downstream_gene_variant BRCA-EU X 48665399 48665399 single base substitution C T intron_variant BRCA-EU X 48665636 48665636 single base substitution T A downstream_gene_variant BRCA-EU X 48665636 48665636 single base substitution T A intron_variant BRCA-EU X 48666063 48666063 single base substitution T G downstream_gene_variant BRCA-EU X 48666063 48666063 single base substitution T G intron_variant BRCA-EU X 48666146 48666146 single base substitution C T downstream_gene_variant BRCA-EU X 48666146 48666146 single base substitution C T intron_variant BRCA-EU X 48667098 48667098 single base substitution C T downstream_gene_variant BRCA-EU X 48667098 48667098 single base substitution C T intron_variant BRCA-EU X 48667098 48667098 single base substitution C T upstream_gene_variant BRCA-EU X 48667615 48667615 single base substitution G A downstream_gene_variant BRCA-EU X 48667615 48667615 single base substitution G A intron_variant BRCA-EU X 48667615 48667615 single base substitution G A upstream_gene_variant BRCA-EU X 48668438 48668438 single base substitution A C downstream_gene_variant BRCA-EU X 48668438 48668438 single base substitution A C intron_variant BRCA-EU X 48668438 48668438 single base substitution A C upstream_gene_variant BRCA-EU X 48668847 48668847 single base substitution C T downstream_gene_variant BRCA-EU X 48668847 48668847 single base substitution C T intron_variant BRCA-EU X 48668847 48668847 single base substitution C T upstream_gene_variant BRCA-EU X 48669025 48669025 deletion of <=200bp A - downstream_gene_variant BRCA-EU X 48669025 48669025 deletion of <=200bp A - intron_variant BRCA-EU X 48669025 48669025 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 48670133 48670133 single base substitution G A downstream_gene_variant BRCA-EU X 48670133 48670133 single base substitution G A intron_variant BRCA-EU X 48670133 48670133 single base substitution G A upstream_gene_variant BRCA-EU X 48670700 48670700 single base substitution C G downstream_gene_variant BRCA-EU X 48670700 48670700 single base substitution C G intron_variant BRCA-EU X 48670700 48670700 single base substitution C G upstream_gene_variant BRCA-EU X 48670730 48670730 single base substitution C G downstream_gene_variant BRCA-EU X 48670730 48670730 single base substitution C G intron_variant BRCA-EU X 48670730 48670730 single base substitution C G upstream_gene_variant BRCA-EU X 48670817 48670817 single base substitution G T downstream_gene_variant BRCA-EU X 48670817 48670817 single base substitution G T intron_variant BRCA-EU X 48670817 48670817 single base substitution G T upstream_gene_variant BRCA-EU X 48670865 48670865 single base substitution G A downstream_gene_variant BRCA-EU X 48670865 48670865 single base substitution G A intron_variant BRCA-EU X 48670865 48670865 single base substitution G A upstream_gene_variant BRCA-EU X 48671138 48671138 single base substitution C G downstream_gene_variant BRCA-EU X 48671138 48671138 single base substitution C G intron_variant BRCA-EU X 48671138 48671138 single base substitution C G upstream_gene_variant BRCA-EU X 48671270 48671270 single base substitution C G downstream_gene_variant BRCA-EU X 48671270 48671270 single base substitution C G intron_variant BRCA-EU X 48671270 48671270 single base substitution C G upstream_gene_variant BRCA-EU X 48671275 48671275 single base substitution C A downstream_gene_variant BRCA-EU X 48671275 48671275 single base substitution C A intron_variant BRCA-EU X 48671275 48671275 single base substitution C A upstream_gene_variant BRCA-EU X 48671575 48671575 single base substitution C G downstream_gene_variant BRCA-EU X 48671575 48671575 single base substitution C G intron_variant BRCA-EU X 48671575 48671575 single base substitution C G upstream_gene_variant BRCA-EU X 48671758 48671758 deletion of <=200bp T - intron_variant BRCA-EU X 48671758 48671758 deletion of <=200bp T - upstream_gene_variant BRCA-EU X 48672449 48672449 single base substitution C A exon_variant BRCA-EU X 48672449 48672449 single base substitution C A intron_variant BRCA-EU X 48672449 48672449 single base substitution C A upstream_gene_variant BRCA-EU X 48672846 48672846 single base substitution G T exon_variant BRCA-EU X 48672846 48672846 single base substitution G T splice_acceptor_variant BRCA-EU X 48672846 48672846 single base substitution G T upstream_gene_variant BRCA-EU X 48672869 48672869 single base substitution C T exon_variant BRCA-EU X 48672869 48672869 single base substitution C T missense_variant R222C 664C>T BRCA-EU X 48672869 48672869 single base substitution C T missense_variant R277C 829C>T BRCA-EU X 48672869 48672869 single base substitution C T missense_variant R291C 871C>T BRCA-EU X 48672869 48672869 single base substitution C T upstream_gene_variant BRCA-EU X 48673695 48673695 single base substitution G C downstream_gene_variant BRCA-EU X 48673695 48673695 single base substitution G C exon_variant BRCA-EU X 48673695 48673695 single base substitution G C intron_variant BRCA-EU X 48673695 48673695 single base substitution G C upstream_gene_variant BRCA-EU X 48674471 48674471 single base substitution G A downstream_gene_variant BRCA-EU X 48674471 48674471 single base substitution G A intron_variant BRCA-EU X 48674471 48674471 single base substitution G A upstream_gene_variant BRCA-EU X 48674600 48674600 single base substitution G A downstream_gene_variant BRCA-EU X 48674600 48674600 single base substitution G A exon_variant BRCA-EU X 48674600 48674600 single base substitution G A missense_variant E516K 1546G>A BRCA-EU X 48674600 48674600 single base substitution G A missense_variant E530K 1588G>A BRCA-EU X 48674600 48674600 single base substitution G A upstream_gene_variant BRCA-EU X 48674653 48674653 single base substitution G A downstream_gene_variant BRCA-EU X 48674653 48674653 single base substitution G A exon_variant BRCA-EU X 48674653 48674653 single base substitution G A synonymous_variant E533E 1599G>A BRCA-EU X 48674653 48674653 single base substitution G A synonymous_variant E547E 1641G>A BRCA-EU X 48674653 48674653 single base substitution G A upstream_gene_variant BRCA-EU X 48674692 48674692 single base substitution C A downstream_gene_variant BRCA-EU X 48674692 48674692 single base substitution C A intron_variant BRCA-EU X 48674692 48674692 single base substitution C A upstream_gene_variant BRCA-EU X 48675788 48675788 single base substitution C T downstream_gene_variant BRCA-EU X 48675788 48675788 single base substitution C T exon_variant BRCA-EU X 48675788 48675788 single base substitution C T missense_variant A616V 1847C>T BRCA-EU X 48675788 48675788 single base substitution C T missense_variant A630V 1889C>T BRCA-EU X 48675788 48675788 single base substitution C T upstream_gene_variant BRCA-EU X 48675905 48675905 single base substitution G C downstream_gene_variant BRCA-EU X 48675905 48675905 single base substitution G C intron_variant BRCA-EU X 48675905 48675905 single base substitution G C upstream_gene_variant BRCA-EU X 48675912 48675912 single base substitution C T downstream_gene_variant BRCA-EU X 48675912 48675912 single base substitution C T intron_variant BRCA-EU X 48675912 48675912 single base substitution C T upstream_gene_variant BRCA-EU X 48675925 48675925 single base substitution C T downstream_gene_variant BRCA-EU X 48675925 48675925 single base substitution C T intron_variant BRCA-EU X 48675925 48675925 single base substitution C T upstream_gene_variant BRCA-EU X 48675932 48675932 single base substitution C T downstream_gene_variant BRCA-EU X 48675932 48675932 single base substitution C T intron_variant BRCA-EU X 48675932 48675932 single base substitution C T upstream_gene_variant BRCA-EU X 48676223 48676223 single base substitution C A downstream_gene_variant BRCA-EU X 48676223 48676223 single base substitution C A exon_variant BRCA-EU X 48676223 48676223 single base substitution C A intron_variant BRCA-EU X 48676223 48676223 single base substitution C A upstream_gene_variant BRCA-EU X 48676448 48676448 single base substitution G A downstream_gene_variant BRCA-EU X 48676448 48676448 single base substitution G A exon_variant BRCA-EU X 48676448 48676448 single base substitution G A splice_region_variant BRCA-EU X 48676448 48676448 single base substitution G A upstream_gene_variant BRCA-EU X 48676977 48676977 single base substitution G C downstream_gene_variant BRCA-EU X 48676977 48676977 single base substitution G C intron_variant BRCA-EU X 48676977 48676977 single base substitution G C upstream_gene_variant BRCA-EU X 48676982 48676982 single base substitution C T downstream_gene_variant BRCA-EU X 48676982 48676982 single base substitution C T intron_variant BRCA-EU X 48676982 48676982 single base substitution C T upstream_gene_variant BRCA-EU X 48678536 48678536 single base substitution C T downstream_gene_variant BRCA-EU X 48678536 48678536 single base substitution C T exon_variant BRCA-EU X 48678536 48678536 single base substitution C T intron_variant BRCA-EU X 48678536 48678536 single base substitution C T synonymous_variant V737V 2211C>T BRCA-EU X 48678536 48678536 single base substitution C T synonymous_variant V751V 2253C>T BRCA-EU X 48678536 48678536 single base substitution C T upstream_gene_variant BRCA-EU X 48678623 48678623 single base substitution G C downstream_gene_variant BRCA-EU X 48678623 48678623 single base substitution G C exon_variant BRCA-EU X 48678623 48678623 single base substitution G C intron_variant BRCA-EU X 48678623 48678623 single base substitution G C synonymous_variant L766L 2298G>C BRCA-EU X 48678623 48678623 single base substitution G C synonymous_variant L780L 2340G>C BRCA-EU X 48678623 48678623 single base substitution G C upstream_gene_variant BRCA-EU X 48679947 48679947 single base substitution G A downstream_gene_variant BRCA-EU X 48679947 48679947 single base substitution G A intron_variant BRCA-EU X 48679947 48679947 single base substitution G A upstream_gene_variant BRCA-EU X 48681217 48681217 deletion of <=200bp G - downstream_gene_variant BRCA-EU X 48681217 48681217 deletion of <=200bp G - intron_variant BRCA-EU X 48681217 48681217 deletion of <=200bp G - upstream_gene_variant BRCA-EU X 48682999 48682999 single base substitution G T downstream_gene_variant BRCA-EU X 48682999 48682999 single base substitution G T exon_variant BRCA-EU X 48682999 48682999 single base substitution G T stop_gained E1209* 3625G>T BRCA-EU X 48682999 48682999 single base substitution G T stop_gained E1223* 3667G>T BRCA-EU X 48682999 48682999 single base substitution G T stop_gained E77* 229G>T BRCA-EU X 48683149 48683149 single base substitution C A 3_prime_UTR_variant BRCA-EU X 48683149 48683149 single base substitution C A downstream_gene_variant BRCA-EU X 48683149 48683149 single base substitution C A exon_variant BRCA-EU X 48684306 48684306 single base substitution G T downstream_gene_variant BRCA-EU X 48685434 48685434 single base substitution G A downstream_gene_variant BRCA-EU X 48685706 48685706 single base substitution C T downstream_gene_variant BRCA-EU X 48685718 48685718 single base substitution G C downstream_gene_variant BRCA-EU X 48686088 48686088 single base substitution T C downstream_gene_variant BRCA-EU X 48686635 48686635 single base substitution C T downstream_gene_variant BRCA-EU X 48687289 48687289 single base substitution G A downstream_gene_variant BRCA-EU X 48687362 48687362 single base substitution G A downstream_gene_variant BRCA-EU X 48687390 48687390 single base substitution C T downstream_gene_variant BRCA-EU X 48687401 48687401 single base substitution G A downstream_gene_variant BRCA-FR X 48657387 48657387 single base substitution T A upstream_gene_variant BRCA-FR X 48662368 48662368 single base substitution G A downstream_gene_variant BRCA-FR X 48662368 48662368 single base substitution G A intron_variant BRCA-FR X 48662368 48662368 single base substitution G A upstream_gene_variant BRCA-FR X 48663218 48663218 single base substitution A C downstream_gene_variant BRCA-FR X 48663218 48663218 single base substitution A C intron_variant BRCA-FR X 48663218 48663218 single base substitution A C upstream_gene_variant BRCA-FR X 48664920 48664920 single base substitution C A downstream_gene_variant BRCA-FR X 48664920 48664920 single base substitution C A exon_variant BRCA-FR X 48664920 48664920 single base substitution C A intron_variant BRCA-FR X 48671275 48671275 single base substitution C A downstream_gene_variant BRCA-FR X 48671275 48671275 single base substitution C A intron_variant BRCA-FR X 48671275 48671275 single base substitution C A upstream_gene_variant BRCA-FR X 48672449 48672449 single base substitution C A exon_variant BRCA-FR X 48672449 48672449 single base substitution C A intron_variant BRCA-FR X 48672449 48672449 single base substitution C A upstream_gene_variant BRCA-FR X 48674471 48674471 single base substitution G A downstream_gene_variant BRCA-FR X 48674471 48674471 single base substitution G A intron_variant BRCA-FR X 48674471 48674471 single base substitution G A upstream_gene_variant BRCA-FR X 48675905 48675905 single base substitution G C downstream_gene_variant BRCA-FR X 48675905 48675905 single base substitution G C intron_variant BRCA-FR X 48675905 48675905 single base substitution G C upstream_gene_variant BRCA-FR X 48685706 48685706 single base substitution C T downstream_gene_variant BRCA-FR X 48686980 48686980 single base substitution C G downstream_gene_variant BRCA-KR X 48661485 48661485 single base substitution G T downstream_gene_variant BRCA-KR X 48661485 48661485 single base substitution G T intron_variant BRCA-KR X 48661485 48661485 single base substitution G T upstream_gene_variant BRCA-KR X 48673811 48673811 single base substitution C A downstream_gene_variant BRCA-KR X 48673811 48673811 single base substitution C A exon_variant BRCA-KR X 48673811 48673811 single base substitution C A synonymous_variant A390A 1170C>A BRCA-KR X 48673811 48673811 single base substitution C A synonymous_variant A404A 1212C>A BRCA-KR X 48673811 48673811 single base substitution C A upstream_gene_variant BRCA-US X 48661392 48661392 single base substitution G A downstream_gene_variant BRCA-US X 48661392 48661392 single base substitution G A exon_variant BRCA-US X 48661392 48661392 single base substitution G A missense_variant G15R 43G>A BRCA-US X 48661392 48661392 single base substitution G A missense_variant G70R 208G>A BRCA-US X 48661392 48661392 single base substitution G A missense_variant G84R 250G>A BRCA-US X 48661392 48661392 single base substitution G A upstream_gene_variant BRCA-US X 48665033 48665033 single base substitution C A downstream_gene_variant BRCA-US X 48665033 48665033 single base substitution C A exon_variant BRCA-US X 48665033 48665033 single base substitution C A synonymous_variant A129A 387C>A BRCA-US X 48665033 48665033 single base substitution C A synonymous_variant A184A 552C>A BRCA-US X 48665033 48665033 single base substitution C A synonymous_variant A198A 594C>A BRCA-US X 48672886 48672886 single base substitution G T exon_variant BRCA-US X 48672886 48672886 single base substitution G T missense_variant R227S 681G>T BRCA-US X 48672886 48672886 single base substitution G T missense_variant R282S 846G>T BRCA-US X 48672886 48672886 single base substitution G T missense_variant R296S 888G>T BRCA-US X 48672886 48672886 single base substitution G T upstream_gene_variant BRCA-US X 48672895 48672895 single base substitution C T exon_variant BRCA-US X 48672895 48672895 single base substitution C T synonymous_variant P230P 690C>T BRCA-US X 48672895 48672895 single base substitution C T synonymous_variant P285P 855C>T BRCA-US X 48672895 48672895 single base substitution C T synonymous_variant P299P 897C>T BRCA-US X 48672895 48672895 single base substitution C T upstream_gene_variant BRCA-US X 48672897 48672897 single base substitution A C exon_variant BRCA-US X 48672897 48672897 single base substitution A C missense_variant H231P 692A>C BRCA-US X 48672897 48672897 single base substitution A C missense_variant H286P 857A>C BRCA-US X 48672897 48672897 single base substitution A C missense_variant H300P 899A>C BRCA-US X 48672897 48672897 single base substitution A C upstream_gene_variant BRCA-US X 48674948 48674948 single base substitution G T downstream_gene_variant BRCA-US X 48674948 48674948 single base substitution G T exon_variant BRCA-US X 48674948 48674948 single base substitution G T missense_variant D567Y 1699G>T BRCA-US X 48674948 48674948 single base substitution G T missense_variant D581Y 1741G>T BRCA-US X 48674948 48674948 single base substitution G T upstream_gene_variant BRCA-US X 48675747 48675747 single base substitution T A downstream_gene_variant BRCA-US X 48675747 48675747 single base substitution T A exon_variant BRCA-US X 48675747 48675747 single base substitution T A intron_variant BRCA-US X 48675747 48675747 single base substitution T A synonymous_variant A602A 1806T>A BRCA-US X 48675747 48675747 single base substitution T A synonymous_variant A616A 1848T>A BRCA-US X 48675747 48675747 single base substitution T A upstream_gene_variant BRCA-US X 48675796 48675796 single base substitution G T downstream_gene_variant BRCA-US X 48675796 48675796 single base substitution G T exon_variant BRCA-US X 48675796 48675796 single base substitution G T missense_variant G619C 1855G>T BRCA-US X 48675796 48675796 single base substitution G T missense_variant G633C 1897G>T BRCA-US X 48675796 48675796 single base substitution G T upstream_gene_variant BRCA-US X 48675830 48675830 single base substitution C T downstream_gene_variant BRCA-US X 48675830 48675830 single base substitution C T exon_variant BRCA-US X 48675830 48675830 single base substitution C T missense_variant A630V 1889C>T BRCA-US X 48675830 48675830 single base substitution C T missense_variant A644V 1931C>T BRCA-US X 48675830 48675830 single base substitution C T upstream_gene_variant BRCA-US X 48678572 48678572 deletion of <=200bp G - downstream_gene_variant BRCA-US X 48678572 48678572 deletion of <=200bp G - exon_variant BRCA-US X 48678572 48678572 deletion of <=200bp G - frameshift_variant L749 BRCA-US X 48678572 48678572 deletion of <=200bp G - frameshift_variant L763 BRCA-US X 48678572 48678572 deletion of <=200bp G - intron_variant BRCA-US X 48678572 48678572 deletion of <=200bp G - upstream_gene_variant BRCA-US X 48678616 48678616 single base substitution A C downstream_gene_variant BRCA-US X 48678616 48678616 single base substitution A C exon_variant BRCA-US X 48678616 48678616 single base substitution A C intron_variant BRCA-US X 48678616 48678616 single base substitution A C missense_variant H764P 2291A>C BRCA-US X 48678616 48678616 single base substitution A C missense_variant H778P 2333A>C BRCA-US X 48678616 48678616 single base substitution A C upstream_gene_variant BRCA-US X 48681327 48681327 single base substitution G C downstream_gene_variant BRCA-US X 48681327 48681327 single base substitution G C exon_variant BRCA-US X 48681327 48681327 single base substitution G C missense_variant E840Q 2518G>C BRCA-US X 48681327 48681327 single base substitution G C missense_variant E854Q 2560G>C BRCA-US X 48681327 48681327 single base substitution G C upstream_gene_variant BRCA-US X 48681345 48681345 single base substitution T A downstream_gene_variant BRCA-US X 48681345 48681345 single base substitution T A exon_variant BRCA-US X 48681345 48681345 single base substitution T A missense_variant S846T 2536T>A BRCA-US X 48681345 48681345 single base substitution T A missense_variant S860T 2578T>A BRCA-US X 48681345 48681345 single base substitution T A upstream_gene_variant BRCA-US X 48681410 48681410 single base substitution G A downstream_gene_variant BRCA-US X 48681410 48681410 single base substitution G A exon_variant BRCA-US X 48681410 48681410 single base substitution G A missense_variant M867I 2601G>A BRCA-US X 48681410 48681410 single base substitution G A missense_variant M881I 2643G>A BRCA-US X 48681410 48681410 single base substitution G A upstream_gene_variant BRCA-US X 48681418 48681418 single base substitution G A downstream_gene_variant BRCA-US X 48681418 48681418 single base substitution G A exon_variant BRCA-US X 48681418 48681418 single base substitution G A missense_variant R870Q 2609G>A BRCA-US X 48681418 48681418 single base substitution G A missense_variant R884Q 2651G>A BRCA-US X 48681418 48681418 single base substitution G A upstream_gene_variant BRCA-US X 48681535 48681535 single base substitution A T downstream_gene_variant BRCA-US X 48681535 48681535 single base substitution A T exon_variant BRCA-US X 48681535 48681535 single base substitution A T missense_variant Q909L 2726A>T BRCA-US X 48681535 48681535 single base substitution A T missense_variant Q923L 2768A>T BRCA-US X 48681535 48681535 single base substitution A T upstream_gene_variant BRCA-US X 48681900 48681900 insertion of <=200bp - C downstream_gene_variant BRCA-US X 48681900 48681900 insertion of <=200bp - C exon_variant BRCA-US X 48681900 48681900 insertion of <=200bp - C frameshift_variant T1031H? BRCA-US X 48681900 48681900 insertion of <=200bp - C frameshift_variant T1045H? BRCA-US X 48681900 48681900 insertion of <=200bp - C upstream_gene_variant BRCA-US X 48681990 48681990 single base substitution G A downstream_gene_variant BRCA-US X 48681990 48681990 single base substitution G A exon_variant BRCA-US X 48681990 48681990 single base substitution G A missense_variant E1061K 3181G>A BRCA-US X 48681990 48681990 single base substitution G A missense_variant E1075K 3223G>A BRCA-US X 48681990 48681990 single base substitution G A missense_variant E21K 61G>A BRCA-US X 48682346 48682346 single base substitution T C downstream_gene_variant BRCA-US X 48682346 48682346 single base substitution T C exon_variant BRCA-US X 48682346 48682346 single base substitution T C intron_variant BRCA-US X 48682346 48682346 single base substitution T C synonymous_variant A1106A 3318T>C BRCA-US X 48682346 48682346 single base substitution T C synonymous_variant A1120A 3360T>C BRCA-US X 48682594 48682594 single base substitution A G downstream_gene_variant BRCA-US X 48682594 48682594 single base substitution A G exon_variant BRCA-US X 48682594 48682594 single base substitution A G intron_variant BRCA-US X 48682594 48682594 single base substitution A G missense_variant I1157V 3469A>G BRCA-US X 48682594 48682594 single base substitution A G missense_variant I1171V 3511A>G BTCA-JP X 48660368 48660368 single base substitution G A 5_prime_UTR_variant BTCA-JP X 48660368 48660368 single base substitution G A intron_variant BTCA-JP X 48660368 48660368 single base substitution G A upstream_gene_variant BTCA-JP X 48664042 48664042 single base substitution G A downstream_gene_variant BTCA-JP X 48664042 48664042 single base substitution G A exon_variant BTCA-JP X 48664042 48664042 single base substitution G A missense_variant R134Q 401G>A BTCA-JP X 48664042 48664042 single base substitution G A missense_variant R148Q 443G>A BTCA-JP X 48664042 48664042 single base substitution G A missense_variant R79Q 236G>A BTCA-JP X 48664042 48664042 single base substitution G A upstream_gene_variant BTCA-JP X 48674200 48674200 single base substitution C T downstream_gene_variant BTCA-JP X 48674200 48674200 single base substitution C T exon_variant BTCA-JP X 48674200 48674200 single base substitution C T intron_variant BTCA-JP X 48674200 48674200 single base substitution C T upstream_gene_variant BTCA-JP X 48674986 48674986 single base substitution A G downstream_gene_variant BTCA-JP X 48674986 48674986 single base substitution A G exon_variant BTCA-JP X 48674986 48674986 single base substitution A G synonymous_variant A579A 1737A>G BTCA-JP X 48674986 48674986 single base substitution A G synonymous_variant A593A 1779A>G BTCA-JP X 48674986 48674986 single base substitution A G upstream_gene_variant BTCA-JP X 48678271 48678271 single base substitution C T downstream_gene_variant BTCA-JP X 48678271 48678271 single base substitution C T exon_variant BTCA-JP X 48678271 48678271 single base substitution C T intron_variant BTCA-JP X 48678271 48678271 single base substitution C T upstream_gene_variant BTCA-JP X 48680862 48680862 single base substitution G T downstream_gene_variant BTCA-JP X 48680862 48680862 single base substitution G T intron_variant BTCA-JP X 48680862 48680862 single base substitution G T upstream_gene_variant BTCA-JP X 48681443 48681443 single base substitution C T downstream_gene_variant BTCA-JP X 48681443 48681443 single base substitution C T exon_variant BTCA-JP X 48681443 48681443 single base substitution C T synonymous_variant G878G 2634C>T BTCA-JP X 48681443 48681443 single base substitution C T synonymous_variant G892G 2676C>T BTCA-JP X 48681443 48681443 single base substitution C T upstream_gene_variant BTCA-JP X 48681776 48681776 single base substitution A G downstream_gene_variant BTCA-JP X 48681776 48681776 single base substitution A G exon_variant BTCA-JP X 48681776 48681776 single base substitution A G synonymous_variant T1003T 3009A>G BTCA-JP X 48681776 48681776 single base substitution A G synonymous_variant T989T 2967A>G BTCA-JP X 48681776 48681776 single base substitution A G upstream_gene_variant BTCA-JP X 48687564 48687564 single base substitution G A downstream_gene_variant CESC-US X 48661072 48661072 single base substitution C T 5_prime_UTR_variant CESC-US X 48661072 48661072 single base substitution C T intron_variant CESC-US X 48661072 48661072 single base substitution C T splice_region_variant CESC-US X 48661072 48661072 single base substitution C T upstream_gene_variant CESC-US X 48663867 48663867 single base substitution C A downstream_gene_variant CESC-US X 48663867 48663867 single base substitution C A exon_variant CESC-US X 48663867 48663867 single base substitution C A missense_variant L112I 334C>A CESC-US X 48663867 48663867 single base substitution C A missense_variant L126I 376C>A CESC-US X 48663867 48663867 single base substitution C A missense_variant L57I 169C>A CESC-US X 48663867 48663867 single base substitution C A upstream_gene_variant CESC-US X 48674575 48674575 single base substitution C G downstream_gene_variant CESC-US X 48674575 48674575 single base substitution C G exon_variant CESC-US X 48674575 48674575 single base substitution C G missense_variant I507M 1521C>G CESC-US X 48674575 48674575 single base substitution C G missense_variant I521M 1563C>G CESC-US X 48674575 48674575 single base substitution C G upstream_gene_variant CESC-US X 48676649 48676649 single base substitution C T downstream_gene_variant CESC-US X 48676649 48676649 single base substitution C T exon_variant CESC-US X 48676649 48676649 single base substitution C T intron_variant CESC-US X 48676649 48676649 single base substitution C T missense_variant R673C 2017C>T CESC-US X 48676649 48676649 single base substitution C T missense_variant R687C 2059C>T CESC-US X 48676649 48676649 single base substitution C T upstream_gene_variant CESC-US X 48681793 48681793 single base substitution C T downstream_gene_variant CESC-US X 48681793 48681793 single base substitution C T exon_variant CESC-US X 48681793 48681793 single base substitution C T missense_variant S1009L 3026C>T CESC-US X 48681793 48681793 single base substitution C T missense_variant S995L 2984C>T CESC-US X 48681793 48681793 single base substitution C T upstream_gene_variant CESC-US X 48688086 48688086 single base substitution C T downstream_gene_variant CLLE-ES X 48672735 48672735 single base substitution G A exon_variant CLLE-ES X 48672735 48672735 single base substitution G A intron_variant CLLE-ES X 48672735 48672735 single base substitution G A upstream_gene_variant COAD-US X 48674340 48674340 single base substitution C T downstream_gene_variant COAD-US X 48674340 48674340 single base substitution C T exon_variant COAD-US X 48674340 48674340 single base substitution C T synonymous_variant S458S 1374C>T COAD-US X 48674340 48674340 single base substitution C T synonymous_variant S472S 1416C>T COAD-US X 48674340 48674340 single base substitution C T upstream_gene_variant COAD-US X 48678572 48678572 deletion of <=200bp G - downstream_gene_variant COAD-US X 48678572 48678572 deletion of <=200bp G - exon_variant COAD-US X 48678572 48678572 deletion of <=200bp G - frameshift_variant L749 COAD-US X 48678572 48678572 deletion of <=200bp G - frameshift_variant L763 COAD-US X 48678572 48678572 deletion of <=200bp G - intron_variant COAD-US X 48678572 48678572 deletion of <=200bp G - upstream_gene_variant COAD-US X 48678598 48678598 single base substitution G T downstream_gene_variant COAD-US X 48678598 48678598 single base substitution G T exon_variant COAD-US X 48678598 48678598 single base substitution G T intron_variant COAD-US X 48678598 48678598 single base substitution G T missense_variant G758V 2273G>T COAD-US X 48678598 48678598 single base substitution G T missense_variant G772V 2315G>T COAD-US X 48678598 48678598 single base substitution G T upstream_gene_variant COAD-US X 48681849 48681849 single base substitution G A downstream_gene_variant COAD-US X 48681849 48681849 single base substitution G A exon_variant COAD-US X 48681849 48681849 single base substitution G A missense_variant G1014R 3040G>A COAD-US X 48681849 48681849 single base substitution G A missense_variant G1028R 3082G>A COAD-US X 48681849 48681849 single base substitution G A upstream_gene_variant COCA-CN X 48678642 48678642 single base substitution C T downstream_gene_variant COCA-CN X 48678642 48678642 single base substitution C T exon_variant COCA-CN X 48678642 48678642 single base substitution C T intron_variant COCA-CN X 48678642 48678642 single base substitution C T missense_variant R773C 2317C>T COCA-CN X 48678642 48678642 single base substitution C T missense_variant R787C 2359C>T COCA-CN X 48678642 48678642 single base substitution C T upstream_gene_variant COCA-CN X 48681202 48681202 single base substitution T C downstream_gene_variant COCA-CN X 48681202 48681202 single base substitution T C missense_variant M837T 2510T>C COCA-CN X 48681202 48681202 single base substitution T C missense_variant M851T 2552T>C COCA-CN X 48681202 48681202 single base substitution T C splice_region_variant COCA-CN X 48681202 48681202 single base substitution T C upstream_gene_variant COCA-CN X 48681592 48681592 single base substitution C T downstream_gene_variant COCA-CN X 48681592 48681592 single base substitution C T exon_variant COCA-CN X 48681592 48681592 single base substitution C T missense_variant A928V 2783C>T COCA-CN X 48681592 48681592 single base substitution C T missense_variant A942V 2825C>T COCA-CN X 48681592 48681592 single base substitution C T upstream_gene_variant COCA-CN X 48682095 48682095 single base substitution C A downstream_gene_variant COCA-CN X 48682095 48682095 single base substitution C A exon_variant COCA-CN X 48682095 48682095 single base substitution C A missense_variant S1068Y 3203C>A COCA-CN X 48682095 48682095 single base substitution C A missense_variant S1082Y 3245C>A COCA-CN X 48682095 48682095 single base substitution C A missense_variant S28Y 83C>A COCA-CN X 48682609 48682609 single base substitution C T downstream_gene_variant COCA-CN X 48682609 48682609 single base substitution C T exon_variant COCA-CN X 48682609 48682609 single base substitution C T intron_variant COCA-CN X 48682609 48682609 single base substitution C T missense_variant L1162F 3484C>T COCA-CN X 48682609 48682609 single base substitution C T missense_variant L1176F 3526C>T COCA-CN X 48683194 48683194 single base substitution G A 3_prime_UTR_variant COCA-CN X 48683194 48683194 single base substitution G A downstream_gene_variant COCA-CN X 48683194 48683194 single base substitution G A exon_variant ESCA-CN X 48674882 48674882 single base substitution G A downstream_gene_variant ESCA-CN X 48674882 48674882 single base substitution G A exon_variant ESCA-CN X 48674882 48674882 single base substitution G A missense_variant V545M 1633G>A ESCA-CN X 48674882 48674882 single base substitution G A missense_variant V559M 1675G>A ESCA-CN X 48674882 48674882 single base substitution G A upstream_gene_variant GBM-US X 48661362 48661362 single base substitution G A downstream_gene_variant GBM-US X 48661362 48661362 single base substitution G A exon_variant GBM-US X 48661362 48661362 single base substitution G A missense_variant G5S 13G>A GBM-US X 48661362 48661362 single base substitution G A missense_variant G60S 178G>A GBM-US X 48661362 48661362 single base substitution G A missense_variant G74S 220G>A GBM-US X 48661362 48661362 single base substitution G A upstream_gene_variant GBM-US X 48681101 48681101 single base substitution A C downstream_gene_variant GBM-US X 48681101 48681101 single base substitution A C exon_variant GBM-US X 48681101 48681101 single base substitution A C synonymous_variant P803P 2409A>C GBM-US X 48681101 48681101 single base substitution A C synonymous_variant P817P 2451A>C GBM-US X 48681101 48681101 single base substitution A C upstream_gene_variant KIRC-US X 48674573 48674573 single base substitution A G downstream_gene_variant KIRC-US X 48674573 48674573 single base substitution A G exon_variant KIRC-US X 48674573 48674573 single base substitution A G missense_variant I507V 1519A>G KIRC-US X 48674573 48674573 single base substitution A G missense_variant I521V 1561A>G KIRC-US X 48674573 48674573 single base substitution A G upstream_gene_variant KIRC-US X 48674583 48674583 single base substitution T C downstream_gene_variant KIRC-US X 48674583 48674583 single base substitution T C exon_variant KIRC-US X 48674583 48674583 single base substitution T C missense_variant I510T 1529T>C KIRC-US X 48674583 48674583 single base substitution T C missense_variant I524T 1571T>C KIRC-US X 48674583 48674583 single base substitution T C upstream_gene_variant KIRC-US X 48674608 48674608 single base substitution C T downstream_gene_variant KIRC-US X 48674608 48674608 single base substitution C T exon_variant KIRC-US X 48674608 48674608 single base substitution C T synonymous_variant G518G 1554C>T KIRC-US X 48674608 48674608 single base substitution C T synonymous_variant G532G 1596C>T KIRC-US X 48674608 48674608 single base substitution C T upstream_gene_variant KIRC-US X 48681371 48681371 single base substitution G A downstream_gene_variant KIRC-US X 48681371 48681371 single base substitution G A exon_variant KIRC-US X 48681371 48681371 single base substitution G A synonymous_variant K854K 2562G>A KIRC-US X 48681371 48681371 single base substitution G A synonymous_variant K868K 2604G>A KIRC-US X 48681371 48681371 single base substitution G A upstream_gene_variant KIRC-US X 48681739 48681739 single base substitution G A downstream_gene_variant KIRC-US X 48681739 48681739 single base substitution G A exon_variant KIRC-US X 48681739 48681739 single base substitution G A missense_variant G977D 2930G>A KIRC-US X 48681739 48681739 single base substitution G A missense_variant G991D 2972G>A KIRC-US X 48681739 48681739 single base substitution G A upstream_gene_variant KIRP-US X 48676773 48676773 single base substitution A G downstream_gene_variant KIRP-US X 48676773 48676773 single base substitution A G exon_variant KIRP-US X 48676773 48676773 single base substitution A G intron_variant KIRP-US X 48676773 48676773 single base substitution A G missense_variant D714G 2141A>G KIRP-US X 48676773 48676773 single base substitution A G missense_variant D728G 2183A>G KIRP-US X 48676773 48676773 single base substitution A G upstream_gene_variant KIRP-US X 48682180 48682180 single base substitution G A downstream_gene_variant KIRP-US X 48682180 48682180 single base substitution G A exon_variant KIRP-US X 48682180 48682180 single base substitution G A synonymous_variant R1096R 3288G>A KIRP-US X 48682180 48682180 single base substitution G A synonymous_variant R1110R 3330G>A KIRP-US X 48682180 48682180 single base substitution G A synonymous_variant R56R 168G>A LGG-US X 48682404 48682404 single base substitution G T downstream_gene_variant LGG-US X 48682404 48682404 single base substitution G T exon_variant LGG-US X 48682404 48682404 single base substitution G T intron_variant LGG-US X 48682404 48682404 single base substitution G T missense_variant G1126C 3376G>T LGG-US X 48682404 48682404 single base substitution G T missense_variant G1140C 3418G>T LGG-US X 48682452 48682452 single base substitution A G downstream_gene_variant LGG-US X 48682452 48682452 single base substitution A G exon_variant LGG-US X 48682452 48682452 single base substitution A G intron_variant LGG-US X 48682452 48682452 single base substitution A G missense_variant N1142D 3424A>G LGG-US X 48682452 48682452 single base substitution A G missense_variant N1156D 3466A>G LICA-CN X 48664819 48664819 single base substitution A T downstream_gene_variant LICA-CN X 48664819 48664819 single base substitution A T exon_variant LICA-CN X 48664819 48664819 single base substitution A T missense_variant E106V 317A>T LICA-CN X 48664819 48664819 single base substitution A T missense_variant E161V 482A>T LICA-CN X 48664819 48664819 single base substitution A T missense_variant E175V 524A>T LICA-CN X 48664819 48664819 single base substitution A T upstream_gene_variant LICA-CN X 48687960 48687960 single base substitution G A downstream_gene_variant LICA-FR X 48666452 48666452 single base substitution T G downstream_gene_variant LICA-FR X 48666452 48666452 single base substitution T G exon_variant LICA-FR X 48666452 48666452 single base substitution T G missense_variant H160Q 480T>G LICA-FR X 48666452 48666452 single base substitution T G missense_variant H215Q 645T>G LICA-FR X 48666452 48666452 single base substitution T G missense_variant H229Q 687T>G LICA-FR X 48675886 48675886 single base substitution C T downstream_gene_variant LICA-FR X 48675886 48675886 single base substitution C T intron_variant LICA-FR X 48675886 48675886 single base substitution C T upstream_gene_variant LICA-FR X 48676644 48676644 single base substitution T C downstream_gene_variant LICA-FR X 48676644 48676644 single base substitution T C exon_variant LICA-FR X 48676644 48676644 single base substitution T C intron_variant LICA-FR X 48676644 48676644 single base substitution T C missense_variant L671P 2012T>C LICA-FR X 48676644 48676644 single base substitution T C missense_variant L685P 2054T>C LICA-FR X 48676644 48676644 single base substitution T C upstream_gene_variant LICA-FR X 48678688 48678688 single base substitution C A downstream_gene_variant LICA-FR X 48678688 48678688 single base substitution C A intron_variant LICA-FR X 48678688 48678688 single base substitution C A upstream_gene_variant LICA-FR X 48681726 48681726 single base substitution G A downstream_gene_variant LICA-FR X 48681726 48681726 single base substitution G A exon_variant LICA-FR X 48681726 48681726 single base substitution G A missense_variant G973R 2917G>A LICA-FR X 48681726 48681726 single base substitution G A missense_variant G987R 2959G>A LICA-FR X 48681726 48681726 single base substitution G A upstream_gene_variant LICA-FR X 48687614 48687614 single base substitution G A downstream_gene_variant LINC-JP X 48663921 48663921 single base substitution T A downstream_gene_variant LINC-JP X 48663921 48663921 single base substitution T A exon_variant LINC-JP X 48663921 48663921 single base substitution T A missense_variant S130T 388T>A LINC-JP X 48663921 48663921 single base substitution T A missense_variant S144T 430T>A LINC-JP X 48663921 48663921 single base substitution T A missense_variant S75T 223T>A LINC-JP X 48663921 48663921 single base substitution T A upstream_gene_variant LINC-JP X 48673796 48673796 single base substitution C G downstream_gene_variant LINC-JP X 48673796 48673796 single base substitution C G exon_variant LINC-JP X 48673796 48673796 single base substitution C G synonymous_variant G385G 1155C>G LINC-JP X 48673796 48673796 single base substitution C G synonymous_variant G399G 1197C>G LINC-JP X 48673796 48673796 single base substitution C G upstream_gene_variant LINC-JP X 48676495 48676495 single base substitution A T downstream_gene_variant LINC-JP X 48676495 48676495 single base substitution A T exon_variant LINC-JP X 48676495 48676495 single base substitution A T missense_variant H658L 1973A>T LINC-JP X 48676495 48676495 single base substitution A T missense_variant H672L 2015A>T LINC-JP X 48676495 48676495 single base substitution A T upstream_gene_variant LINC-JP X 48676496 48676496 single base substitution C A downstream_gene_variant LINC-JP X 48676496 48676496 single base substitution C A exon_variant LINC-JP X 48676496 48676496 single base substitution C A missense_variant H658Q 1974C>A LINC-JP X 48676496 48676496 single base substitution C A missense_variant H672Q 2016C>A LINC-JP X 48676496 48676496 single base substitution C A upstream_gene_variant LINC-JP X 48678248 48678248 single base substitution C T downstream_gene_variant LINC-JP X 48678248 48678248 single base substitution C T exon_variant LINC-JP X 48678248 48678248 single base substitution C T intron_variant LINC-JP X 48678248 48678248 single base substitution C T upstream_gene_variant LINC-JP X 48679594 48679594 single base substitution C A downstream_gene_variant LINC-JP X 48679594 48679594 single base substitution C A intron_variant LINC-JP X 48679594 48679594 single base substitution C A upstream_gene_variant LINC-JP X 48681941 48681941 single base substitution A G downstream_gene_variant LINC-JP X 48681941 48681941 single base substitution A G exon_variant LINC-JP X 48681941 48681941 single base substitution A G missense_variant I1044M 3132A>G LINC-JP X 48681941 48681941 single base substitution A G missense_variant I1058M 3174A>G LINC-JP X 48681941 48681941 single base substitution A G missense_variant I4M 12A>G LINC-JP X 48682464 48682464 single base substitution C T downstream_gene_variant LINC-JP X 48682464 48682464 single base substitution C T exon_variant LINC-JP X 48682464 48682464 single base substitution C T intron_variant LINC-JP X 48682464 48682464 single base substitution C T missense_variant L1146F 3436C>T LINC-JP X 48682464 48682464 single base substitution C T missense_variant L1160F 3478C>T LIRI-JP X 48655380 48655380 single base substitution G A upstream_gene_variant LIRI-JP X 48662400 48662400 single base substitution T G downstream_gene_variant LIRI-JP X 48662400 48662400 single base substitution T G intron_variant LIRI-JP X 48662400 48662400 single base substitution T G upstream_gene_variant LIRI-JP X 48662801 48662801 single base substitution C A downstream_gene_variant LIRI-JP X 48662801 48662801 single base substitution C A intron_variant LIRI-JP X 48662801 48662801 single base substitution C A upstream_gene_variant LIRI-JP X 48670852 48670852 single base substitution A C downstream_gene_variant LIRI-JP X 48670852 48670852 single base substitution A C intron_variant LIRI-JP X 48670852 48670852 single base substitution A C upstream_gene_variant LIRI-JP X 48671700 48671700 single base substitution T A downstream_gene_variant LIRI-JP X 48671700 48671700 single base substitution T A intron_variant LIRI-JP X 48671700 48671700 single base substitution T A upstream_gene_variant LIRI-JP X 48676184 48676184 single base substitution G A downstream_gene_variant LIRI-JP X 48676184 48676184 single base substitution G A exon_variant LIRI-JP X 48676184 48676184 single base substitution G A intron_variant LIRI-JP X 48676184 48676184 single base substitution G A upstream_gene_variant LIRI-JP X 48681711 48681711 single base substitution G T downstream_gene_variant LIRI-JP X 48681711 48681711 single base substitution G T exon_variant LIRI-JP X 48681711 48681711 single base substitution G T stop_gained E968* 2902G>T LIRI-JP X 48681711 48681711 single base substitution G T stop_gained E982* 2944G>T LIRI-JP X 48681711 48681711 single base substitution G T upstream_gene_variant LIRI-JP X 48684095 48684095 single base substitution C G downstream_gene_variant LIRI-JP X 48687425 48687425 single base substitution C T downstream_gene_variant LUSC-KR X 48657162 48657162 single base substitution G A upstream_gene_variant LUSC-KR X 48682634 48682634 single base substitution A T downstream_gene_variant LUSC-KR X 48682634 48682634 single base substitution A T exon_variant LUSC-KR X 48682634 48682634 single base substitution A T intron_variant LUSC-KR X 48682634 48682634 single base substitution A T missense_variant H1170L 3509A>T LUSC-KR X 48682634 48682634 single base substitution A T missense_variant H1184L 3551A>T LUSC-US X 48687603 48687603 single base substitution G A downstream_gene_variant LUSC-US X 48687893 48687893 single base substitution C A downstream_gene_variant LUSC-US X 48688086 48688086 single base substitution C T downstream_gene_variant MALY-DE X 48658139 48658139 deletion of <=200bp G - upstream_gene_variant MALY-DE X 48658941 48658941 single base substitution T C upstream_gene_variant MELA-AU X 48655188 48655188 single base substitution C T upstream_gene_variant MELA-AU X 48655567 48655567 single base substitution G A upstream_gene_variant MELA-AU X 48656169 48656169 single base substitution G A upstream_gene_variant MELA-AU X 48656478 48656478 single base substitution C T upstream_gene_variant MELA-AU X 48656841 48656841 single base substitution G A upstream_gene_variant MELA-AU X 48656929 48656929 single base substitution G A upstream_gene_variant MELA-AU X 48657979 48657980 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU X 48658820 48658820 single base substitution C T upstream_gene_variant MELA-AU X 48659520 48659520 single base substitution G A upstream_gene_variant MELA-AU X 48659713 48659713 single base substitution C T upstream_gene_variant MELA-AU X 48659762 48659762 single base substitution C T upstream_gene_variant MELA-AU X 48659911 48659911 single base substitution A G 5_prime_UTR_variant MELA-AU X 48659911 48659911 single base substitution A G intron_variant MELA-AU X 48659911 48659911 single base substitution A G upstream_gene_variant MELA-AU X 48660228 48660228 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU X 48660228 48660228 single base substitution C T exon_variant MELA-AU X 48660228 48660228 single base substitution C T intron_variant MELA-AU X 48660228 48660228 single base substitution C T upstream_gene_variant MELA-AU X 48660964 48660964 single base substitution G A 5_prime_UTR_variant MELA-AU X 48660964 48660964 single base substitution G A intron_variant MELA-AU X 48660964 48660964 single base substitution G A upstream_gene_variant MELA-AU X 48661297 48661297 single base substitution G A 5_prime_UTR_variant MELA-AU X 48661297 48661297 single base substitution G A exon_variant MELA-AU X 48661297 48661297 single base substitution G A intron_variant MELA-AU X 48661297 48661297 single base substitution G A missense_variant G38E 113G>A MELA-AU X 48661297 48661297 single base substitution G A missense_variant G52E 155G>A MELA-AU X 48661297 48661297 single base substitution G A upstream_gene_variant MELA-AU X 48661535 48661535 single base substitution G A downstream_gene_variant MELA-AU X 48661535 48661535 single base substitution G A missense_variant D20N 58G>A MELA-AU X 48661535 48661535 single base substitution G A missense_variant D75N 223G>A MELA-AU X 48661535 48661535 single base substitution G A missense_variant D89N 265G>A MELA-AU X 48661535 48661535 single base substitution G A splice_region_variant MELA-AU X 48661535 48661535 single base substitution G A upstream_gene_variant MELA-AU X 48662051 48662051 single base substitution C T downstream_gene_variant MELA-AU X 48662051 48662051 single base substitution C T intron_variant MELA-AU X 48662051 48662051 single base substitution C T upstream_gene_variant MELA-AU X 48662318 48662318 single base substitution C T downstream_gene_variant MELA-AU X 48662318 48662318 single base substitution C T intron_variant MELA-AU X 48662318 48662318 single base substitution C T upstream_gene_variant MELA-AU X 48662660 48662660 single base substitution T C downstream_gene_variant MELA-AU X 48662660 48662660 single base substitution T C intron_variant MELA-AU X 48662660 48662660 single base substitution T C upstream_gene_variant MELA-AU X 48663006 48663006 single base substitution G A downstream_gene_variant MELA-AU X 48663006 48663006 single base substitution G A intron_variant MELA-AU X 48663006 48663006 single base substitution G A upstream_gene_variant MELA-AU X 48663380 48663380 single base substitution A G downstream_gene_variant MELA-AU X 48663380 48663380 single base substitution A G intron_variant MELA-AU X 48663380 48663380 single base substitution A G upstream_gene_variant MELA-AU X 48663464 48663464 single base substitution G A downstream_gene_variant MELA-AU X 48663464 48663464 single base substitution G A intron_variant MELA-AU X 48663464 48663464 single base substitution G A upstream_gene_variant MELA-AU X 48663538 48663538 single base substitution G A downstream_gene_variant MELA-AU X 48663538 48663538 single base substitution G A intron_variant MELA-AU X 48663538 48663538 single base substitution G A upstream_gene_variant MELA-AU X 48664008 48664008 single base substitution T C downstream_gene_variant MELA-AU X 48664008 48664008 single base substitution T C intron_variant MELA-AU X 48664008 48664008 single base substitution T C upstream_gene_variant MELA-AU X 48664384 48664384 single base substitution G A downstream_gene_variant MELA-AU X 48664384 48664384 single base substitution G A exon_variant MELA-AU X 48664384 48664384 single base substitution G A intron_variant MELA-AU X 48664384 48664384 single base substitution G A upstream_gene_variant MELA-AU X 48664522 48664522 single base substitution G A downstream_gene_variant MELA-AU X 48664522 48664522 single base substitution G A exon_variant MELA-AU X 48664522 48664522 single base substitution G A intron_variant MELA-AU X 48664522 48664522 single base substitution G A upstream_gene_variant MELA-AU X 48664681 48664681 single base substitution G T downstream_gene_variant MELA-AU X 48664681 48664681 single base substitution G T exon_variant MELA-AU X 48664681 48664681 single base substitution G T intron_variant MELA-AU X 48664681 48664681 single base substitution G T upstream_gene_variant MELA-AU X 48664987 48664987 single base substitution C T downstream_gene_variant MELA-AU X 48664987 48664987 single base substitution C T exon_variant MELA-AU X 48664987 48664987 single base substitution C T intron_variant MELA-AU X 48665158 48665158 single base substitution T C downstream_gene_variant MELA-AU X 48665158 48665158 single base substitution T C exon_variant MELA-AU X 48665158 48665158 single base substitution T C intron_variant MELA-AU X 48665315 48665315 single base substitution C T downstream_gene_variant MELA-AU X 48665315 48665315 single base substitution C T exon_variant MELA-AU X 48665315 48665315 single base substitution C T intron_variant MELA-AU X 48665540 48665540 single base substitution T C downstream_gene_variant MELA-AU X 48665540 48665540 single base substitution T C intron_variant MELA-AU X 48666039 48666039 single base substitution C T downstream_gene_variant MELA-AU X 48666039 48666039 single base substitution C T intron_variant MELA-AU X 48666703 48666703 single base substitution G A downstream_gene_variant MELA-AU X 48666703 48666703 single base substitution G A exon_variant MELA-AU X 48666703 48666703 single base substitution G A missense_variant G204E 611G>A MELA-AU X 48666703 48666703 single base substitution G A missense_variant G259E 776G>A MELA-AU X 48666703 48666703 single base substitution G A missense_variant G273E 818G>A MELA-AU X 48667480 48667480 single base substitution C T downstream_gene_variant MELA-AU X 48667480 48667480 single base substitution C T intron_variant MELA-AU X 48667480 48667480 single base substitution C T upstream_gene_variant MELA-AU X 48668921 48668921 single base substitution C T downstream_gene_variant MELA-AU X 48668921 48668921 single base substitution C T intron_variant MELA-AU X 48668921 48668921 single base substitution C T upstream_gene_variant MELA-AU X 48669776 48669776 single base substitution G A downstream_gene_variant MELA-AU X 48669776 48669776 single base substitution G A intron_variant MELA-AU X 48669776 48669776 single base substitution G A upstream_gene_variant MELA-AU X 48670220 48670220 single base substitution C T downstream_gene_variant MELA-AU X 48670220 48670220 single base substitution C T intron_variant MELA-AU X 48670220 48670220 single base substitution C T upstream_gene_variant MELA-AU X 48670354 48670354 single base substitution C T downstream_gene_variant MELA-AU X 48670354 48670354 single base substitution C T intron_variant MELA-AU X 48670354 48670354 single base substitution C T upstream_gene_variant MELA-AU X 48671143 48671143 single base substitution C T downstream_gene_variant MELA-AU X 48671143 48671143 single base substitution C T intron_variant MELA-AU X 48671143 48671143 single base substitution C T upstream_gene_variant MELA-AU X 48671352 48671352 single base substitution T G downstream_gene_variant MELA-AU X 48671352 48671352 single base substitution T G intron_variant MELA-AU X 48671352 48671352 single base substitution T G upstream_gene_variant MELA-AU X 48671813 48671813 single base substitution C T exon_variant MELA-AU X 48671813 48671813 single base substitution C T intron_variant MELA-AU X 48671813 48671813 single base substitution C T upstream_gene_variant MELA-AU X 48673203 48673203 single base substitution G A exon_variant MELA-AU X 48673203 48673203 single base substitution G A intron_variant MELA-AU X 48673203 48673203 single base substitution G A stop_retained_variant *297* 890G>A MELA-AU X 48673203 48673203 single base substitution G A upstream_gene_variant MELA-AU X 48673475 48673475 single base substitution C T downstream_gene_variant MELA-AU X 48673475 48673475 single base substitution C T exon_variant MELA-AU X 48673475 48673475 single base substitution C T intron_variant MELA-AU X 48673475 48673475 single base substitution C T upstream_gene_variant MELA-AU X 48673893 48673893 single base substitution C T downstream_gene_variant MELA-AU X 48673893 48673893 single base substitution C T exon_variant MELA-AU X 48673893 48673893 single base substitution C T missense_variant R418W 1252C>T MELA-AU X 48673893 48673893 single base substitution C T missense_variant R432W 1294C>T MELA-AU X 48673893 48673893 single base substitution C T upstream_gene_variant MELA-AU X 48674958 48674958 single base substitution A C downstream_gene_variant MELA-AU X 48674958 48674958 single base substitution A C exon_variant MELA-AU X 48674958 48674958 single base substitution A C missense_variant Y570S 1709A>C MELA-AU X 48674958 48674958 single base substitution A C missense_variant Y584S 1751A>C MELA-AU X 48674958 48674958 single base substitution A C upstream_gene_variant MELA-AU X 48675094 48675094 single base substitution A C downstream_gene_variant MELA-AU X 48675094 48675094 single base substitution A C exon_variant MELA-AU X 48675094 48675094 single base substitution A C intron_variant MELA-AU X 48675094 48675094 single base substitution A C upstream_gene_variant MELA-AU X 48675452 48675452 single base substitution C T downstream_gene_variant MELA-AU X 48675452 48675452 single base substitution C T exon_variant MELA-AU X 48675452 48675452 single base substitution C T intron_variant MELA-AU X 48675452 48675452 single base substitution C T upstream_gene_variant MELA-AU X 48675576 48675576 single base substitution G T downstream_gene_variant MELA-AU X 48675576 48675576 single base substitution G T exon_variant MELA-AU X 48675576 48675576 single base substitution G T intron_variant MELA-AU X 48675576 48675576 single base substitution G T upstream_gene_variant MELA-AU X 48676675 48676675 single base substitution C T downstream_gene_variant MELA-AU X 48676675 48676675 single base substitution C T exon_variant MELA-AU X 48676675 48676675 single base substitution C T intron_variant MELA-AU X 48676675 48676675 single base substitution C T synonymous_variant P681P 2043C>T MELA-AU X 48676675 48676675 single base substitution C T synonymous_variant P695P 2085C>T MELA-AU X 48676675 48676675 single base substitution C T upstream_gene_variant MELA-AU X 48676772 48676772 single base substitution G A downstream_gene_variant MELA-AU X 48676772 48676772 single base substitution G A exon_variant MELA-AU X 48676772 48676772 single base substitution G A intron_variant MELA-AU X 48676772 48676772 single base substitution G A missense_variant D714N 2140G>A MELA-AU X 48676772 48676772 single base substitution G A missense_variant D728N 2182G>A MELA-AU X 48676772 48676772 single base substitution G A upstream_gene_variant MELA-AU X 48677126 48677126 single base substitution G A downstream_gene_variant MELA-AU X 48677126 48677126 single base substitution G A intron_variant MELA-AU X 48677126 48677126 single base substitution G A upstream_gene_variant MELA-AU X 48679186 48679186 single base substitution G A downstream_gene_variant MELA-AU X 48679186 48679186 single base substitution G A intron_variant MELA-AU X 48679186 48679186 single base substitution G A upstream_gene_variant MELA-AU X 48679187 48679187 single base substitution G A downstream_gene_variant MELA-AU X 48679187 48679187 single base substitution G A intron_variant MELA-AU X 48679187 48679187 single base substitution G A upstream_gene_variant MELA-AU X 48680446 48680446 single base substitution C T downstream_gene_variant MELA-AU X 48680446 48680446 single base substitution C T intron_variant MELA-AU X 48680446 48680446 single base substitution C T upstream_gene_variant MELA-AU X 48680777 48680777 single base substitution C T downstream_gene_variant MELA-AU X 48680777 48680777 single base substitution C T intron_variant MELA-AU X 48680777 48680777 single base substitution C T upstream_gene_variant MELA-AU X 48680943 48680943 single base substitution G A downstream_gene_variant MELA-AU X 48680943 48680943 single base substitution G A intron_variant MELA-AU X 48680943 48680943 single base substitution G A upstream_gene_variant MELA-AU X 48681240 48681240 single base substitution G A downstream_gene_variant MELA-AU X 48681240 48681240 single base substitution G A intron_variant MELA-AU X 48681240 48681240 single base substitution G A upstream_gene_variant MELA-AU X 48681903 48681903 single base substitution C T downstream_gene_variant MELA-AU X 48681903 48681903 single base substitution C T exon_variant MELA-AU X 48681903 48681903 single base substitution C T missense_variant P1032S 3094C>T MELA-AU X 48681903 48681903 single base substitution C T missense_variant P1046S 3136C>T MELA-AU X 48681903 48681903 single base substitution C T upstream_gene_variant MELA-AU X 48682298 48682298 single base substitution C A downstream_gene_variant MELA-AU X 48682298 48682298 single base substitution C A intron_variant MELA-AU X 48682695 48682695 single base substitution C T downstream_gene_variant MELA-AU X 48682695 48682695 single base substitution C T exon_variant MELA-AU X 48682695 48682695 single base substitution C T intron_variant MELA-AU X 48682695 48682695 single base substitution C T synonymous_variant V1190V 3570C>T MELA-AU X 48682695 48682695 single base substitution C T synonymous_variant V1204V 3612C>T MELA-AU X 48682946 48682946 single base substitution C T downstream_gene_variant MELA-AU X 48682946 48682946 single base substitution C T intron_variant MELA-AU X 48683836 48683836 single base substitution C T downstream_gene_variant MELA-AU X 48685240 48685240 single base substitution G A downstream_gene_variant MELA-AU X 48685374 48685374 single base substitution C T downstream_gene_variant MELA-AU X 48685388 48685388 single base substitution C T downstream_gene_variant MELA-AU X 48685883 48685883 single base substitution C T downstream_gene_variant MELA-AU X 48686677 48686677 single base substitution G A downstream_gene_variant MELA-AU X 48686739 48686739 single base substitution C T downstream_gene_variant MELA-AU X 48686739 48686740 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU X 48687231 48687231 single base substitution T A downstream_gene_variant MELA-AU X 48687441 48687441 single base substitution C T downstream_gene_variant MELA-AU X 48687444 48687444 single base substitution C T downstream_gene_variant MELA-AU X 48687996 48687996 single base substitution C T downstream_gene_variant MELA-AU X 48688111 48688111 single base substitution C T downstream_gene_variant MELA-AU X 48688136 48688136 single base substitution G A downstream_gene_variant MELA-AU X 48688140 48688140 single base substitution C T downstream_gene_variant MELA-AU X 48688371 48688371 single base substitution T C downstream_gene_variant ORCA-IN X 48681904 48681904 single base substitution C T downstream_gene_variant ORCA-IN X 48681904 48681904 single base substitution C T exon_variant ORCA-IN X 48681904 48681904 single base substitution C T missense_variant P1032L 3095C>T ORCA-IN X 48681904 48681904 single base substitution C T missense_variant P1046L 3137C>T ORCA-IN X 48681904 48681904 single base substitution C T upstream_gene_variant OV-AU X 48655771 48655771 single base substitution G A upstream_gene_variant OV-AU X 48658226 48658226 single base substitution A G upstream_gene_variant OV-AU X 48667779 48667779 single base substitution T C downstream_gene_variant OV-AU X 48667779 48667779 single base substitution T C intron_variant OV-AU X 48667779 48667779 single base substitution T C upstream_gene_variant OV-AU X 48670047 48670047 single base substitution A C downstream_gene_variant OV-AU X 48670047 48670047 single base substitution A C intron_variant OV-AU X 48670047 48670047 single base substitution A C upstream_gene_variant OV-AU X 48674886 48674886 single base substitution G C downstream_gene_variant OV-AU X 48674886 48674886 single base substitution G C exon_variant OV-AU X 48674886 48674886 single base substitution G C missense_variant G546A 1637G>C OV-AU X 48674886 48674886 single base substitution G C missense_variant G560A 1679G>C OV-AU X 48674886 48674886 single base substitution G C upstream_gene_variant OV-AU X 48677448 48677448 single base substitution G C downstream_gene_variant OV-AU X 48677448 48677448 single base substitution G C intron_variant OV-AU X 48677448 48677448 single base substitution G C upstream_gene_variant OV-AU X 48681227 48681227 single base substitution G A downstream_gene_variant OV-AU X 48681227 48681227 single base substitution G A intron_variant OV-AU X 48681227 48681227 single base substitution G A upstream_gene_variant OV-AU X 48683467 48683467 single base substitution G T downstream_gene_variant OV-AU X 48687603 48687603 single base substitution G T downstream_gene_variant PACA-AU X 48655863 48655863 single base substitution C G upstream_gene_variant PACA-AU X 48661328 48661328 single base substitution G A 5_prime_UTR_variant PACA-AU X 48661328 48661328 single base substitution G A exon_variant PACA-AU X 48661328 48661328 single base substitution G A splice_region_variant PACA-AU X 48661328 48661328 single base substitution G A synonymous_variant A48A 144G>A PACA-AU X 48661328 48661328 single base substitution G A synonymous_variant A62A 186G>A PACA-AU X 48661328 48661328 single base substitution G A upstream_gene_variant PACA-AU X 48664322 48664322 single base substitution T C downstream_gene_variant PACA-AU X 48664322 48664322 single base substitution T C exon_variant PACA-AU X 48664322 48664322 single base substitution T C intron_variant PACA-AU X 48664322 48664322 single base substitution T C upstream_gene_variant PACA-AU X 48664360 48664360 single base substitution T A downstream_gene_variant PACA-AU X 48664360 48664360 single base substitution T A exon_variant PACA-AU X 48664360 48664360 single base substitution T A intron_variant PACA-AU X 48664360 48664360 single base substitution T A upstream_gene_variant PACA-AU X 48669029 48669029 single base substitution T A downstream_gene_variant PACA-AU X 48669029 48669029 single base substitution T A intron_variant PACA-AU X 48669029 48669029 single base substitution T A upstream_gene_variant PACA-AU X 48672351 48672351 single base substitution C T exon_variant PACA-AU X 48672351 48672351 single base substitution C T intron_variant PACA-AU X 48672351 48672351 single base substitution C T upstream_gene_variant PACA-AU X 48673354 48673354 single base substitution T A downstream_gene_variant PACA-AU X 48673354 48673354 single base substitution T A exon_variant PACA-AU X 48673354 48673354 single base substitution T A intron_variant PACA-AU X 48673354 48673354 single base substitution T A upstream_gene_variant PACA-AU X 48673906 48673906 single base substitution C T downstream_gene_variant PACA-AU X 48673906 48673906 single base substitution C T intron_variant PACA-AU X 48673906 48673906 single base substitution C T upstream_gene_variant PACA-AU X 48686604 48686604 deletion of <=200bp T - downstream_gene_variant PACA-CA X 48655048 48655048 single base substitution A T upstream_gene_variant PACA-CA X 48655206 48655206 single base substitution C A upstream_gene_variant PACA-CA X 48657687 48657687 single base substitution C A upstream_gene_variant PACA-CA X 48662704 48662704 single base substitution A C downstream_gene_variant PACA-CA X 48662704 48662704 single base substitution A C intron_variant PACA-CA X 48662704 48662704 single base substitution A C upstream_gene_variant PACA-CA X 48664851 48664851 single base substitution G A downstream_gene_variant PACA-CA X 48664851 48664851 single base substitution G A exon_variant PACA-CA X 48664851 48664851 single base substitution G A missense_variant D117N 349G>A PACA-CA X 48664851 48664851 single base substitution G A missense_variant D172N 514G>A PACA-CA X 48664851 48664851 single base substitution G A missense_variant D186N 556G>A PACA-CA X 48664851 48664851 single base substitution G A synonymous_variant ?172 PACA-CA X 48666257 48666257 single base substitution G A downstream_gene_variant PACA-CA X 48666257 48666257 single base substitution G A intron_variant PACA-CA X 48667819 48667819 single base substitution T C downstream_gene_variant PACA-CA X 48667819 48667819 single base substitution T C intron_variant PACA-CA X 48667819 48667819 single base substitution T C upstream_gene_variant PACA-CA X 48669582 48669582 single base substitution G A downstream_gene_variant PACA-CA X 48669582 48669582 single base substitution G A intron_variant PACA-CA X 48669582 48669582 single base substitution G A upstream_gene_variant PACA-CA X 48669892 48669892 single base substitution A G downstream_gene_variant PACA-CA X 48669892 48669892 single base substitution A G intron_variant PACA-CA X 48669892 48669892 single base substitution A G upstream_gene_variant PACA-CA X 48673124 48673124 single base substitution G A exon_variant PACA-CA X 48673124 48673124 single base substitution G A missense_variant V271I 811G>A PACA-CA X 48673124 48673124 single base substitution G A missense_variant V326I 976G>A PACA-CA X 48673124 48673124 single base substitution G A missense_variant V340I 1018G>A PACA-CA X 48673124 48673124 single base substitution G A upstream_gene_variant PACA-CA X 48678650 48678650 single base substitution C T downstream_gene_variant PACA-CA X 48678650 48678650 single base substitution C T exon_variant PACA-CA X 48678650 48678650 single base substitution C T intron_variant PACA-CA X 48678650 48678650 single base substitution C T synonymous_variant I775I 2325C>T PACA-CA X 48678650 48678650 single base substitution C T synonymous_variant I789I 2367C>T PACA-CA X 48678650 48678650 single base substitution C T upstream_gene_variant PACA-CA X 48679836 48679836 single base substitution C T downstream_gene_variant PACA-CA X 48679836 48679836 single base substitution C T intron_variant PACA-CA X 48679836 48679836 single base substitution C T upstream_gene_variant PACA-CA X 48680169 48680169 single base substitution C T downstream_gene_variant PACA-CA X 48680169 48680169 single base substitution C T intron_variant PACA-CA X 48680169 48680169 single base substitution C T upstream_gene_variant PACA-CA X 48680860 48680860 single base substitution G A downstream_gene_variant PACA-CA X 48680860 48680860 single base substitution G A intron_variant PACA-CA X 48680860 48680860 single base substitution G A upstream_gene_variant PACA-CA X 48682747 48682747 single base substitution C A downstream_gene_variant PACA-CA X 48682747 48682747 single base substitution C A intron_variant PACA-CA X 48685425 48685425 single base substitution G A downstream_gene_variant PAEN-AU X 48669029 48669029 single base substitution T A downstream_gene_variant PAEN-AU X 48669029 48669029 single base substitution T A intron_variant PAEN-AU X 48669029 48669029 single base substitution T A upstream_gene_variant PAEN-IT X 48655478 48655478 single base substitution C T upstream_gene_variant PAEN-IT X 48655479 48655479 single base substitution C T upstream_gene_variant PBCA-DE X 48655649 48655649 single base substitution T C upstream_gene_variant PBCA-DE X 48659893 48659893 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PBCA-DE X 48659893 48659893 single base substitution C T intron_variant PBCA-DE X 48659893 48659893 single base substitution C T upstream_gene_variant PBCA-DE X 48661168 48661168 single base substitution C A exon_variant PBCA-DE X 48661168 48661168 single base substitution C A intron_variant PBCA-DE X 48661168 48661168 single base substitution C A synonymous_variant P23P 69C>A PBCA-DE X 48661168 48661168 single base substitution C A synonymous_variant P37P 111C>A PBCA-DE X 48661168 48661168 single base substitution C A upstream_gene_variant PBCA-DE X 48661388 48661388 single base substitution C T downstream_gene_variant PBCA-DE X 48661388 48661388 single base substitution C T exon_variant PBCA-DE X 48661388 48661388 single base substitution C T synonymous_variant I13I 39C>T PBCA-DE X 48661388 48661388 single base substitution C T synonymous_variant I68I 204C>T PBCA-DE X 48661388 48661388 single base substitution C T synonymous_variant I82I 246C>T PBCA-DE X 48661388 48661388 single base substitution C T upstream_gene_variant PBCA-DE X 48682749 48682749 single base substitution A C downstream_gene_variant PBCA-DE X 48682749 48682749 single base substitution A C intron_variant PRAD-UK X 48655410 48655410 single base substitution A G upstream_gene_variant PRAD-UK X 48668084 48668084 single base substitution C G downstream_gene_variant PRAD-UK X 48668084 48668084 single base substitution C G intron_variant PRAD-UK X 48668084 48668084 single base substitution C G upstream_gene_variant PRAD-US X 48673411 48673411 single base substitution C T downstream_gene_variant PRAD-US X 48673411 48673411 single base substitution C T exon_variant PRAD-US X 48673411 48673411 single base substitution C T missense_variant H368Y 1102C>T PRAD-US X 48673411 48673411 single base substitution C T missense_variant H382Y 1144C>T PRAD-US X 48673411 48673411 single base substitution C T upstream_gene_variant PRAD-US X 48674947 48674947 single base substitution T G downstream_gene_variant PRAD-US X 48674947 48674947 single base substitution T G exon_variant PRAD-US X 48674947 48674947 single base substitution T G missense_variant F566L 1698T>G PRAD-US X 48674947 48674947 single base substitution T G missense_variant F580L 1740T>G PRAD-US X 48674947 48674947 single base substitution T G upstream_gene_variant PRAD-US X 48674948 48674948 single base substitution G C downstream_gene_variant PRAD-US X 48674948 48674948 single base substitution G C exon_variant PRAD-US X 48674948 48674948 single base substitution G C missense_variant D567H 1699G>C PRAD-US X 48674948 48674948 single base substitution G C missense_variant D581H 1741G>C PRAD-US X 48674948 48674948 single base substitution G C upstream_gene_variant READ-US X 48672931 48672931 single base substitution C T exon_variant READ-US X 48672931 48672931 single base substitution C T synonymous_variant F242F 726C>T READ-US X 48672931 48672931 single base substitution C T synonymous_variant F297F 891C>T READ-US X 48672931 48672931 single base substitution C T synonymous_variant F311F 933C>T READ-US X 48672931 48672931 single base substitution C T upstream_gene_variant READ-US X 48674977 48674977 single base substitution C T downstream_gene_variant READ-US X 48674977 48674977 single base substitution C T exon_variant READ-US X 48674977 48674977 single base substitution C T synonymous_variant F576F 1728C>T READ-US X 48674977 48674977 single base substitution C T synonymous_variant F590F 1770C>T READ-US X 48674977 48674977 single base substitution C T upstream_gene_variant READ-US X 48676708 48676708 single base substitution C A downstream_gene_variant READ-US X 48676708 48676708 single base substitution C A exon_variant READ-US X 48676708 48676708 single base substitution C A intron_variant READ-US X 48676708 48676708 single base substitution C A synonymous_variant G692G 2076C>A READ-US X 48676708 48676708 single base substitution C A synonymous_variant G706G 2118C>A READ-US X 48676708 48676708 single base substitution C A upstream_gene_variant RECA-EU X 48658355 48658355 single base substitution C T upstream_gene_variant RECA-EU X 48668771 48668771 single base substitution C T downstream_gene_variant RECA-EU X 48668771 48668771 single base substitution C T intron_variant RECA-EU X 48668771 48668771 single base substitution C T upstream_gene_variant RECA-EU X 48688360 48688360 single base substitution C A downstream_gene_variant SKCA-BR X 48655571 48655571 single base substitution C T upstream_gene_variant SKCA-BR X 48656227 48656227 single base substitution G T upstream_gene_variant SKCA-BR X 48667757 48667757 single base substitution A G downstream_gene_variant SKCA-BR X 48667757 48667757 single base substitution A G intron_variant SKCA-BR X 48667757 48667757 single base substitution A G upstream_gene_variant SKCA-BR X 48678942 48678942 single base substitution C T downstream_gene_variant SKCA-BR X 48678942 48678942 single base substitution C T intron_variant SKCA-BR X 48678942 48678942 single base substitution C T upstream_gene_variant SKCA-BR X 48679164 48679164 single base substitution C T downstream_gene_variant SKCA-BR X 48679164 48679164 single base substitution C T intron_variant SKCA-BR X 48679164 48679164 single base substitution C T upstream_gene_variant SKCA-BR X 48681049 48681049 single base substitution C T downstream_gene_variant SKCA-BR X 48681049 48681049 single base substitution C T exon_variant SKCA-BR X 48681049 48681049 single base substitution C T missense_variant S786F 2357C>T SKCA-BR X 48681049 48681049 single base substitution C T missense_variant S800F 2399C>T SKCA-BR X 48681049 48681049 single base substitution C T upstream_gene_variant SKCA-BR X 48684487 48684487 single base substitution T C downstream_gene_variant SKCA-BR X 48684549 48684549 single base substitution C T downstream_gene_variant SKCA-BR X 48688270 48688270 single base substitution G T downstream_gene_variant SKCM-US X 48663912 48663912 single base substitution C T downstream_gene_variant SKCM-US X 48663912 48663912 single base substitution C T exon_variant SKCM-US X 48663912 48663912 single base substitution C T missense_variant R127C 379C>T SKCM-US X 48663912 48663912 single base substitution C T missense_variant R141C 421C>T SKCM-US X 48663912 48663912 single base substitution C T missense_variant R72C 214C>T SKCM-US X 48663912 48663912 single base substitution C T upstream_gene_variant SKCM-US X 48666444 48666444 single base substitution C A downstream_gene_variant SKCM-US X 48666444 48666444 single base substitution C A exon_variant SKCM-US X 48666444 48666444 single base substitution C A missense_variant P158T 472C>A SKCM-US X 48666444 48666444 single base substitution C A missense_variant P213T 637C>A SKCM-US X 48666444 48666444 single base substitution C A missense_variant P227T 679C>A SKCM-US X 48674442 48674442 single base substitution C T downstream_gene_variant SKCM-US X 48674442 48674442 single base substitution C T exon_variant SKCM-US X 48674442 48674442 single base substitution C T synonymous_variant H492H 1476C>T SKCM-US X 48674442 48674442 single base substitution C T synonymous_variant H506H 1518C>T SKCM-US X 48674442 48674442 single base substitution C T upstream_gene_variant SKCM-US X 48674977 48674977 single base substitution C T downstream_gene_variant SKCM-US X 48674977 48674977 single base substitution C T exon_variant SKCM-US X 48674977 48674977 single base substitution C T synonymous_variant F576F 1728C>T SKCM-US X 48674977 48674977 single base substitution C T synonymous_variant F590F 1770C>T SKCM-US X 48674977 48674977 single base substitution C T upstream_gene_variant SKCM-US X 48675031 48675031 single base substitution C T downstream_gene_variant SKCM-US X 48675031 48675031 single base substitution C T exon_variant SKCM-US X 48675031 48675031 single base substitution C T synonymous_variant L594L 1782C>T SKCM-US X 48675031 48675031 single base substitution C T synonymous_variant L608L 1824C>T SKCM-US X 48675031 48675031 single base substitution C T upstream_gene_variant SKCM-US X 48681101 48681101 single base substitution A C downstream_gene_variant SKCM-US X 48681101 48681101 single base substitution A C exon_variant SKCM-US X 48681101 48681101 single base substitution A C synonymous_variant P803P 2409A>C SKCM-US X 48681101 48681101 single base substitution A C synonymous_variant P817P 2451A>C SKCM-US X 48681101 48681101 single base substitution A C upstream_gene_variant SKCM-US X 48681152 48681152 single base substitution C T downstream_gene_variant SKCM-US X 48681152 48681152 single base substitution C T exon_variant SKCM-US X 48681152 48681152 single base substitution C T synonymous_variant I820I 2460C>T SKCM-US X 48681152 48681152 single base substitution C T synonymous_variant I834I 2502C>T SKCM-US X 48681152 48681152 single base substitution C T upstream_gene_variant SKCM-US X 48681659 48681659 single base substitution G A downstream_gene_variant SKCM-US X 48681659 48681659 single base substitution G A exon_variant SKCM-US X 48681659 48681659 single base substitution G A synonymous_variant Q950Q 2850G>A SKCM-US X 48681659 48681659 single base substitution G A synonymous_variant Q964Q 2892G>A SKCM-US X 48681659 48681659 single base substitution G A upstream_gene_variant SKCM-US X 48681693 48681693 single base substitution C T downstream_gene_variant SKCM-US X 48681693 48681693 single base substitution C T exon_variant SKCM-US X 48681693 48681693 single base substitution C T synonymous_variant L962L 2884C>T SKCM-US X 48681693 48681693 single base substitution C T synonymous_variant L976L 2926C>T SKCM-US X 48681693 48681693 single base substitution C T upstream_gene_variant SKCM-US X 48687675 48687675 single base substitution G A downstream_gene_variant SKCM-US X 48688189 48688189 deletion of <=200bp C - downstream_gene_variant STAD-US X 48661558 48661558 single base substitution A G downstream_gene_variant STAD-US X 48661558 48661558 single base substitution A G exon_variant STAD-US X 48661558 48661558 single base substitution A G synonymous_variant A27A 81A>G STAD-US X 48661558 48661558 single base substitution A G synonymous_variant A82A 246A>G STAD-US X 48661558 48661558 single base substitution A G synonymous_variant A96A 288A>G STAD-US X 48661558 48661558 single base substitution A G upstream_gene_variant STAD-US X 48666716 48666716 single base substitution C T downstream_gene_variant STAD-US X 48666716 48666716 single base substitution C T exon_variant STAD-US X 48666716 48666716 single base substitution C T synonymous_variant T208T 624C>T STAD-US X 48666716 48666716 single base substitution C T synonymous_variant T263T 789C>T STAD-US X 48666716 48666716 single base substitution C T synonymous_variant T277T 831C>T STAD-US X 48673431 48673431 single base substitution A G downstream_gene_variant STAD-US X 48673431 48673431 single base substitution A G exon_variant STAD-US X 48673431 48673431 single base substitution A G synonymous_variant A374A 1122A>G STAD-US X 48673431 48673431 single base substitution A G synonymous_variant A388A 1164A>G STAD-US X 48673431 48673431 single base substitution A G upstream_gene_variant STAD-US X 48673824 48673824 single base substitution G A downstream_gene_variant STAD-US X 48673824 48673824 single base substitution G A exon_variant STAD-US X 48673824 48673824 single base substitution G A missense_variant V395I 1183G>A STAD-US X 48673824 48673824 single base substitution G A missense_variant V409I 1225G>A STAD-US X 48673824 48673824 single base substitution G A upstream_gene_variant STAD-US X 48674553 48674553 single base substitution A G downstream_gene_variant STAD-US X 48674553 48674553 single base substitution A G exon_variant STAD-US X 48674553 48674553 single base substitution A G missense_variant H500R 1499A>G STAD-US X 48674553 48674553 single base substitution A G missense_variant H514R 1541A>G STAD-US X 48674553 48674553 single base substitution A G upstream_gene_variant STAD-US X 48674585 48674585 single base substitution A G downstream_gene_variant STAD-US X 48674585 48674585 single base substitution A G exon_variant STAD-US X 48674585 48674585 single base substitution A G missense_variant M511V 1531A>G STAD-US X 48674585 48674585 single base substitution A G missense_variant M525V 1573A>G STAD-US X 48674585 48674585 single base substitution A G upstream_gene_variant STAD-US X 48678589 48678589 single base substitution C T downstream_gene_variant STAD-US X 48678589 48678589 single base substitution C T exon_variant STAD-US X 48678589 48678589 single base substitution C T intron_variant STAD-US X 48678589 48678589 single base substitution C T missense_variant S755L 2264C>T STAD-US X 48678589 48678589 single base substitution C T missense_variant S769L 2306C>T STAD-US X 48678589 48678589 single base substitution C T upstream_gene_variant STAD-US X 48678618 48678618 single base substitution C A downstream_gene_variant STAD-US X 48678618 48678618 single base substitution C A exon_variant STAD-US X 48678618 48678618 single base substitution C A intron_variant STAD-US X 48678618 48678618 single base substitution C A missense_variant L765M 2293C>A STAD-US X 48678618 48678618 single base substitution C A missense_variant L779M 2335C>A STAD-US X 48678618 48678618 single base substitution C A upstream_gene_variant STAD-US X 48681196 48681196 single base substitution G A downstream_gene_variant STAD-US X 48681196 48681196 single base substitution G A exon_variant STAD-US X 48681196 48681196 single base substitution G A missense_variant R835Q 2504G>A STAD-US X 48681196 48681196 single base substitution G A missense_variant R849Q 2546G>A STAD-US X 48681196 48681196 single base substitution G A upstream_gene_variant STAD-US X 48681771 48681771 single base substitution G A downstream_gene_variant STAD-US X 48681771 48681771 single base substitution G A exon_variant STAD-US X 48681771 48681771 single base substitution G A missense_variant A1002T 3004G>A STAD-US X 48681771 48681771 single base substitution G A missense_variant A988T 2962G>A STAD-US X 48681771 48681771 single base substitution G A upstream_gene_variant STAD-US X 48687628 48687628 single base substitution G A downstream_gene_variant STAD-US X 48687743 48687743 single base substitution C T downstream_gene_variant STAD-US X 48687744 48687744 single base substitution G A downstream_gene_variant THCA-SA X 48681962 48681962 single base substitution G A downstream_gene_variant THCA-SA X 48681962 48681962 single base substitution G A exon_variant THCA-SA X 48681962 48681962 single base substitution G A synonymous_variant G1051G 3153G>A THCA-SA X 48681962 48681962 single base substitution G A synonymous_variant G1065G 3195G>A THCA-SA X 48681962 48681962 single base substitution G A synonymous_variant G11G 33G>A THCA-SA X 48682974 48682974 single base substitution C A downstream_gene_variant THCA-SA X 48682974 48682974 single base substitution C A exon_variant THCA-SA X 48682974 48682974 single base substitution C A missense_variant N1200K 3600C>A THCA-SA X 48682974 48682974 single base substitution C A missense_variant N1214K 3642C>A THCA-SA X 48682974 48682974 single base substitution C A missense_variant N68K 204C>A UCEC-US X 48661140 48661140 single base substitution G A exon_variant UCEC-US X 48661140 48661140 single base substitution G A intron_variant UCEC-US X 48661140 48661140 single base substitution G A missense_variant R14Q 41G>A UCEC-US X 48661140 48661140 single base substitution G A missense_variant R28Q 83G>A UCEC-US X 48661140 48661140 single base substitution G A upstream_gene_variant UCEC-US X 48661191 48661191 single base substitution C T exon_variant UCEC-US X 48661191 48661191 single base substitution C T intron_variant UCEC-US X 48661191 48661191 single base substitution C T missense_variant S31L 92C>T UCEC-US X 48661191 48661191 single base substitution C T missense_variant S45L 134C>T UCEC-US X 48661191 48661191 single base substitution C T splice_region_variant UCEC-US X 48661191 48661191 single base substitution C T upstream_gene_variant UCEC-US X 48661282 48661282 single base substitution G A 5_prime_UTR_variant UCEC-US X 48661282 48661282 single base substitution G A exon_variant UCEC-US X 48661282 48661282 single base substitution G A intron_variant UCEC-US X 48661282 48661282 single base substitution G A missense_variant R33Q 98G>A UCEC-US X 48661282 48661282 single base substitution G A missense_variant R47Q 140G>A UCEC-US X 48661282 48661282 single base substitution G A upstream_gene_variant UCEC-US X 48664814 48664814 single base substitution G T downstream_gene_variant UCEC-US X 48664814 48664814 single base substitution G T exon_variant UCEC-US X 48664814 48664814 single base substitution G T missense_variant M104I 312G>T UCEC-US X 48664814 48664814 single base substitution G T missense_variant M159I 477G>T UCEC-US X 48664814 48664814 single base substitution G T missense_variant M173I 519G>T UCEC-US X 48664814 48664814 single base substitution G T upstream_gene_variant UCEC-US X 48664870 48664870 single base substitution C T downstream_gene_variant UCEC-US X 48664870 48664870 single base substitution C T exon_variant UCEC-US X 48664870 48664870 single base substitution C T missense_variant P123L 368C>T UCEC-US X 48664870 48664870 single base substitution C T missense_variant P178L 533C>T UCEC-US X 48664870 48664870 single base substitution C T missense_variant P192L 575C>T UCEC-US X 48664870 48664870 single base substitution C T splice_region_variant UCEC-US X 48672893 48672893 single base substitution C A exon_variant UCEC-US X 48672893 48672893 single base substitution C A missense_variant P230T 688C>A UCEC-US X 48672893 48672893 single base substitution C A missense_variant P285T 853C>A UCEC-US X 48672893 48672893 single base substitution C A missense_variant P299T 895C>A UCEC-US X 48672893 48672893 single base substitution C A upstream_gene_variant UCEC-US X 48672931 48672931 single base substitution C T exon_variant UCEC-US X 48672931 48672931 single base substitution C T synonymous_variant F242F 726C>T UCEC-US X 48672931 48672931 single base substitution C T synonymous_variant F297F 891C>T UCEC-US X 48672931 48672931 single base substitution C T synonymous_variant F311F 933C>T UCEC-US X 48672931 48672931 single base substitution C T upstream_gene_variant UCEC-US X 48672939 48672939 single base substitution G A exon_variant UCEC-US X 48672939 48672939 single base substitution G A missense_variant G245D 734G>A UCEC-US X 48672939 48672939 single base substitution G A missense_variant G300D 899G>A UCEC-US X 48672939 48672939 single base substitution G A missense_variant G314D 941G>A UCEC-US X 48672939 48672939 single base substitution G A upstream_gene_variant UCEC-US X 48673381 48673381 single base substitution G A downstream_gene_variant UCEC-US X 48673381 48673381 single base substitution G A exon_variant UCEC-US X 48673381 48673381 single base substitution G A missense_variant A358T 1072G>A UCEC-US X 48673381 48673381 single base substitution G A missense_variant A372T 1114G>A UCEC-US X 48673381 48673381 single base substitution G A upstream_gene_variant UCEC-US X 48673430 48673430 single base substitution C T downstream_gene_variant UCEC-US X 48673430 48673430 single base substitution C T exon_variant UCEC-US X 48673430 48673430 single base substitution C T missense_variant A374V 1121C>T UCEC-US X 48673430 48673430 single base substitution C T missense_variant A388V 1163C>T UCEC-US X 48673430 48673430 single base substitution C T upstream_gene_variant UCEC-US X 48673823 48673823 single base substitution C T downstream_gene_variant UCEC-US X 48673823 48673823 single base substitution C T exon_variant UCEC-US X 48673823 48673823 single base substitution C T synonymous_variant G394G 1182C>T UCEC-US X 48673823 48673823 single base substitution C T synonymous_variant G408G 1224C>T UCEC-US X 48673823 48673823 single base substitution C T upstream_gene_variant UCEC-US X 48673835 48673835 single base substitution G A downstream_gene_variant UCEC-US X 48673835 48673835 single base substitution G A exon_variant UCEC-US X 48673835 48673835 single base substitution G A synonymous_variant S398S 1194G>A UCEC-US X 48673835 48673835 single base substitution G A synonymous_variant S412S 1236G>A UCEC-US X 48673835 48673835 single base substitution G A upstream_gene_variant UCEC-US X 48674023 48674023 single base substitution C T downstream_gene_variant UCEC-US X 48674023 48674023 single base substitution C T exon_variant UCEC-US X 48674023 48674023 single base substitution C T missense_variant P433L 1298C>T UCEC-US X 48674023 48674023 single base substitution C T missense_variant P447L 1340C>T UCEC-US X 48674023 48674023 single base substitution C T upstream_gene_variant UCEC-US X 48674906 48674906 single base substitution A C downstream_gene_variant UCEC-US X 48674906 48674906 single base substitution A C exon_variant UCEC-US X 48674906 48674906 single base substitution A C missense_variant K553Q 1657A>C UCEC-US X 48674906 48674906 single base substitution A C missense_variant K567Q 1699A>C UCEC-US X 48674906 48674906 single base substitution A C upstream_gene_variant UCEC-US X 48674931 48674931 single base substitution G A downstream_gene_variant UCEC-US X 48674931 48674931 single base substitution G A exon_variant UCEC-US X 48674931 48674931 single base substitution G A missense_variant R561H 1682G>A UCEC-US X 48674931 48674931 single base substitution G A missense_variant R575H 1724G>A UCEC-US X 48674931 48674931 single base substitution G A upstream_gene_variant UCEC-US X 48674965 48674965 single base substitution C T downstream_gene_variant UCEC-US X 48674965 48674965 single base substitution C T exon_variant UCEC-US X 48674965 48674965 single base substitution C T synonymous_variant C572C 1716C>T UCEC-US X 48674965 48674965 single base substitution C T synonymous_variant C586C 1758C>T UCEC-US X 48674965 48674965 single base substitution C T upstream_gene_variant UCEC-US X 48674977 48674977 single base substitution C T downstream_gene_variant UCEC-US X 48674977 48674977 single base substitution C T exon_variant UCEC-US X 48674977 48674977 single base substitution C T synonymous_variant F576F 1728C>T UCEC-US X 48674977 48674977 single base substitution C T synonymous_variant F590F 1770C>T UCEC-US X 48674977 48674977 single base substitution C T upstream_gene_variant UCEC-US X 48675000 48675000 single base substitution G A downstream_gene_variant UCEC-US X 48675000 48675000 single base substitution G A exon_variant UCEC-US X 48675000 48675000 single base substitution G A missense_variant G584D 1751G>A UCEC-US X 48675000 48675000 single base substitution G A missense_variant G598D 1793G>A UCEC-US X 48675000 48675000 single base substitution G A upstream_gene_variant UCEC-US X 48675808 48675808 single base substitution T C downstream_gene_variant UCEC-US X 48675808 48675808 single base substitution T C exon_variant UCEC-US X 48675808 48675808 single base substitution T C missense_variant F623L 1867T>C UCEC-US X 48675808 48675808 single base substitution T C missense_variant F637L 1909T>C UCEC-US X 48675808 48675808 single base substitution T C upstream_gene_variant UCEC-US X 48676754 48676754 single base substitution C T downstream_gene_variant UCEC-US X 48676754 48676754 single base substitution C T exon_variant UCEC-US X 48676754 48676754 single base substitution C T intron_variant UCEC-US X 48676754 48676754 single base substitution C T missense_variant P708S 2122C>T UCEC-US X 48676754 48676754 single base substitution C T missense_variant P722S 2164C>T UCEC-US X 48676754 48676754 single base substitution C T upstream_gene_variant UCEC-US X 48676758 48676758 single base substitution G A downstream_gene_variant UCEC-US X 48676758 48676758 single base substitution G A exon_variant UCEC-US X 48676758 48676758 single base substitution G A intron_variant UCEC-US X 48676758 48676758 single base substitution G A missense_variant R709H 2126G>A UCEC-US X 48676758 48676758 single base substitution G A missense_variant R723H 2168G>A UCEC-US X 48676758 48676758 single base substitution G A upstream_gene_variant UCEC-US X 48676794 48676794 single base substitution G A downstream_gene_variant UCEC-US X 48676794 48676794 single base substitution G A exon_variant UCEC-US X 48676794 48676794 single base substitution G A intron_variant UCEC-US X 48676794 48676794 single base substitution G A missense_variant R721H 2162G>A UCEC-US X 48676794 48676794 single base substitution G A missense_variant R735H 2204G>A UCEC-US X 48676794 48676794 single base substitution G A upstream_gene_variant UCEC-US X 48681062 48681062 single base substitution C T downstream_gene_variant UCEC-US X 48681062 48681062 single base substitution C T exon_variant UCEC-US X 48681062 48681062 single base substitution C T synonymous_variant S790S 2370C>T UCEC-US X 48681062 48681062 single base substitution C T synonymous_variant S804S 2412C>T UCEC-US X 48681062 48681062 single base substitution C T upstream_gene_variant UCEC-US X 48681175 48681175 single base substitution G A downstream_gene_variant UCEC-US X 48681175 48681175 single base substitution G A exon_variant UCEC-US X 48681175 48681175 single base substitution G A missense_variant R828H 2483G>A UCEC-US X 48681175 48681175 single base substitution G A missense_variant R842H 2525G>A UCEC-US X 48681175 48681175 single base substitution G A upstream_gene_variant UCEC-US X 48681204 48681204 single base substitution A C downstream_gene_variant UCEC-US X 48681204 48681204 single base substitution A C missense_variant K838Q 2512A>C UCEC-US X 48681204 48681204 single base substitution A C missense_variant K852Q 2554A>C UCEC-US X 48681204 48681204 single base substitution A C splice_region_variant UCEC-US X 48681204 48681204 single base substitution A C upstream_gene_variant UCEC-US X 48681341 48681341 single base substitution A G downstream_gene_variant UCEC-US X 48681341 48681341 single base substitution A G exon_variant UCEC-US X 48681341 48681341 single base substitution A G synonymous_variant G844G 2532A>G UCEC-US X 48681341 48681341 single base substitution A G synonymous_variant G858G 2574A>G UCEC-US X 48681341 48681341 single base substitution A G upstream_gene_variant UCEC-US X 48681420 48681420 single base substitution G T downstream_gene_variant UCEC-US X 48681420 48681420 single base substitution G T exon_variant UCEC-US X 48681420 48681420 single base substitution G T stop_gained E871* 2611G>T UCEC-US X 48681420 48681420 single base substitution G T stop_gained E885* 2653G>T UCEC-US X 48681420 48681420 single base substitution G T upstream_gene_variant UCEC-US X 48681638 48681638 single base substitution C T downstream_gene_variant UCEC-US X 48681638 48681638 single base substitution C T exon_variant UCEC-US X 48681638 48681638 single base substitution C T synonymous_variant V943V 2829C>T UCEC-US X 48681638 48681638 single base substitution C T synonymous_variant V957V 2871C>T UCEC-US X 48681638 48681638 single base substitution C T upstream_gene_variant UCEC-US X 48681858 48681858 single base substitution G A downstream_gene_variant UCEC-US X 48681858 48681858 single base substitution G A exon_variant UCEC-US X 48681858 48681858 single base substitution G A missense_variant E1017K 3049G>A UCEC-US X 48681858 48681858 single base substitution G A missense_variant E1031K 3091G>A UCEC-US X 48681858 48681858 single base substitution G A upstream_gene_variant UCEC-US X 48681990 48681990 single base substitution G A downstream_gene_variant UCEC-US X 48681990 48681990 single base substitution G A exon_variant UCEC-US X 48681990 48681990 single base substitution G A missense_variant E1061K 3181G>A UCEC-US X 48681990 48681990 single base substitution G A missense_variant E1075K 3223G>A UCEC-US X 48681990 48681990 single base substitution G A missense_variant E21K 61G>A UCEC-US X 48682637 48682637 single base substitution C T downstream_gene_variant UCEC-US X 48682637 48682637 single base substitution C T exon_variant UCEC-US X 48682637 48682637 single base substitution C T intron_variant UCEC-US X 48682637 48682637 single base substitution C T missense_variant P1171L 3512C>T UCEC-US X 48682637 48682637 single base substitution C T missense_variant P1185L 3554C>T UCEC-US X 48682667 48682667 single base substitution C T downstream_gene_variant UCEC-US X 48682667 48682667 single base substitution C T exon_variant UCEC-US X 48682667 48682667 single base substitution C T intron_variant UCEC-US X 48682667 48682667 single base substitution C T missense_variant A1181V 3542C>T UCEC-US X 48682667 48682667 single base substitution C T missense_variant A1195V 3584C>T UCEC-US X 48683253 48683253 single base substitution G A 3_prime_UTR_variant UCEC-US X 48683253 48683253 single base substitution G A downstream_gene_variant UCEC-US X 48683253 48683253 single base substitution G A exon_variant UCEC-US X 48687550 48687550 single base substitution A C downstream_gene_variant UCEC-US X 48687738 48687738 single base substitution G A downstream_gene_variant UCEC-US X 48687822 48687822 single base substitution G A downstream_gene_variant UCEC-US X 48687842 48687842 single base substitution G A downstream_gene_variant UCEC-US X 48687920 48687920 single base substitution C A downstream_gene_variant UCEC-US X 48688095 48688095 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCC35 COSM1625944 c.3436C>T p.L1146F Substitution - Missense 23:48824054-48824054 + TCGA-OL-A5D8-01 COSM3844860 c.2536T>A p.S846T Substitution - Missense 23:48822935-48822935 + PD9004a COSM5796381 c.1926G>A p.R642R Substitution - coding silent 23:48818041-48818041 + cSCCP1 COSM135945 c.1246C>T p.P416S Substitution - Missense 23:48815480-48815480 + HCC35T COSM1625944 c.3436C>T p.L1146F Substitution - Missense 23:48824054-48824054 + TCGA-BP-4176-01 COSM3364024 c.2930G>A p.G977D Substitution - Missense 23:48823329-48823329 + BCM399T COSM4950011 c.645T>G p.H215Q Substitution - Missense 23:48808045-48808045 + C058 COSM5525035 c.1681C>T p.R561C Substitution - Missense 23:48816523-48816523 + J30_T COSM3965299 c.3509A>C p.H1170P Substitution - Missense 23:48824224-48824224 + SNU-C2B COSM2966592 c.1422G>A p.W474* Substitution - Nonsense 23:48815981-48815981 + HCC86T COSM1625942 c.1973A>T p.H658L Substitution - Missense 23:48818088-48818088 + HCC56T COSM1625941 c.1155C>G p.G385G Substitution - coding silent 23:48815389-48815389 + T3262 COSM4689695 c.3572A>G p.H1191R Substitution - Missense 23:48824287-48824287 + TCGA-AP-A051-01 COSM1122181 c.853C>A p.P285T Substitution - Missense 23:48814486-48814486 + TCGA-B5-A0JY-01 COSM1122188 c.1298C>T p.P433L Substitution - Missense 23:48815616-48815616 + TCGA-BT-A3PH-01 COSM311726 c.2409A>C p.P803P Substitution - coding silent 23:48822691-48822691 + TCGA-FG-5965-01 COSM2966623 c.3376G>T p.G1126C Substitution - Missense 23:48823994-48823994 + TCGA-CF-A1HS-01 COSM422553 c.707G>T p.R236L Substitution - Missense 23:48808107-48808107 + CHC892T COSM4959260 c.2917G>A p.G973R Substitution - Missense 23:48823316-48823316 + KPOPBR-40-T COSM5965920 c.1170C>A p.A390A Substitution - coding silent 23:48815404-48815404 + TCGA-32-1982-01 COSM3406422 c.178G>A p.G60S Substitution - Missense 23:48802955-48802955 + ESO15T COSM1173588 c.1924C>T p.R642W Substitution - Missense 23:48817458-48817458 + 1005 COSM2966582 c.384C>T p.C128C Substitution - coding silent 23:48805510-48805510 + RK038_C01 COSM3701867 c.2902G>T p.E968* Substitution - Nonsense 23:48823301-48823301 + TCGA-CH-5792-01 COSM1132294 c.1698T>G p.F566L Substitution - Missense 23:48816540-48816540 + PDA_084 COSM5002616 c.1277G>A p.C426Y Substitution - Missense 23:48815595-48815595 + ccRCC-78 COSM1662107 c.1703C>A p.S568Y Substitution - Missense 23:48816545-48816545 + S01453 COSM311726 c.2409A>C p.P803P Substitution - coding silent 23:48822691-48822691 + ATL017 COSM5711684 c.3365T>C p.I1122T Substitution - Missense 23:48823983-48823983 + TCGA-A2-A0T5-01 COSM3844852 c.857A>C p.H286P Substitution - Missense 23:48814490-48814490 + CHC892T COSM4959260 c.2917G>A p.G973R Substitution - Missense 23:48823316-48823316 + TCGA-CM-6162-01 COSM1468253 c.1374C>T p.S458S Substitution - coding silent 23:48815933-48815933 + TCGA-BS-A0UF-01 COSM1122180 c.533C>T p.P178L Substitution - Missense 23:48806463-48806463 + PD11818a COSM5794295 c.1599G>A p.E533E Substitution - coding silent 23:48816246-48816246 + TCGA-HU-8249-01 COSM4109806 c.2293C>A p.L765M Substitution - Missense 23:48820211-48820211 + S00936 COSM311724 c.1585C>T p.R529C Substitution - Missense 23:48816232-48816232 + S00356 COSM311723 c.2800C>T p.L934L Substitution - coding silent 23:48823199-48823199 + YUOTHO COSM5412754 c.1366G>A p.E456K Substitution - Missense 23:48815925-48815925 + TCGA-AX-A0J1-01 COSM1122197 c.2126G>A p.R709H Substitution - Missense 23:48818351-48818351 + PD18730a COSM5787189 c.3625G>T p.E1209* Substitution - Nonsense 23:48824589-48824589 + TCGA-HU-A4G9-01 COSM4109796 c.1122A>G p.A374A Substitution - coding silent 23:48815024-48815024 + OSCC-GB_00410111 COSM3713909 c.3095C>T p.P1032L Substitution - Missense 23:48823494-48823494 + TCGA-BS-A0UV-01 COSM1122205 c.3049G>A p.E1017K Substitution - Missense 23:48823448-48823448 + T2940 COSM4689693 c.3091_3092insC p.T1034fs*55 Insertion - Frameshift 23:48823490-48823491 + TCGA-E9-A1NI-01 COSM4689693 c.3091_3092insC p.T1034fs*55 Insertion - Frameshift 23:48823490-48823491 + PCSI_0083_Pa_P_526 COSM3786739 c.514G>A p.D172N Substitution - Missense 23:48806444-48806444 + HCC56 COSM1625941 c.1155C>G p.G385G Substitution - coding silent 23:48815389-48815389 + TCGA-D1-A17Q-01 COSM1122192 c.1728C>T p.F576F Substitution - coding silent 23:48816570-48816570 + 578 COSM97849 c.619A>T p.M207L Substitution - Missense 23:48806693-48806693 + GC_350T-GC_350N COSM4772077 c.1402G>C p.V468L Substitution - Missense 23:48815961-48815961 + TCGA-BR-7707-01 COSM2966610 c.2504G>A p.R835Q Substitution - Missense 23:48822786-48822786 + PD9002a COSM5779281 c.2211C>T p.V737V Substitution - coding silent 23:48820129-48820129 + TCGA-BS-A0UV-01 COSM1122183 c.899G>A p.G300D Substitution - Missense 23:48814532-48814532 + LUAD-S01315 COSM385733 c.1888G>A p.A630T Substitution - Missense 23:48817422-48817422 + TCGA-BG-A0M4-01 COSM1122194 c.1761C>T p.C587C Substitution - coding silent 23:48816603-48816603 + TCGA-AO-A1KT-01 COSM1491017 c.3469A>G p.I1157V Substitution - Missense 23:48824184-48824184 + ESCC_BICR_057T COSM5436886 c.1633G>A p.V545M Substitution - Missense 23:48816475-48816475 + 12M COSM5577495 c.3395C>T p.P1132L Substitution - Missense 23:48824013-48824013 + TCGA-AA-A010-01 COSM281634 c.3463C>T p.R1155C Substitution - Missense 23:48824178-48824178 + MO_1012 COSM5557367 c.1707C>T p.I569I Substitution - coding silent 23:48816549-48816549 + TCGA-CH-5792-01 COSM1132293 c.1699G>C p.D567H Substitution - Missense 23:48816541-48816541 + TCGA-EE-A2GI-06 COSM3561980 c.2460C>T p.I820I Substitution - coding silent 23:48822742-48822742 + S00356 COSM311723 c.2800C>T p.L934L Substitution - coding silent 23:48823199-48823199 + TCGA-EI-6507-01 COSM1570146 c.2076C>A p.G692G Substitution - coding silent 23:48818301-48818301 + TCGA-A7-A26J-01 COSM3844856 c.1889C>T p.A630V Substitution - Missense 23:48817423-48817423 + YUKAT COSM3561974 c.379C>T p.R127C Substitution - Missense 23:48805505-48805505 + HCC003T COSM5819635 c.482A>T p.E161V Substitution - Missense 23:48806412-48806412 + CHEWS026 COSM4589448 c.3051G>A p.E1017E Substitution - coding silent 23:48823450-48823450 + TCGA-AN-A03X-01 COSM457594 c.552C>A p.A184A Substitution - coding silent 23:48806626-48806626 + TCGA-13-0904-01 COSM79963 c.1522T>C p.L508L Substitution - coding silent 23:48816169-48816169 + 8061103 COSM3780495 c.1256+9C>T p.? Unknown 23:48815499-48815499 + TCGA-AG-A002-01 COSM261230 c.3129G>T p.Q1043H Substitution - Missense 23:48823528-48823528 + TCGA-CM-4743-01 COSM1468255 c.2247delG p.G751fs*16 Deletion - Frameshift 23:48820165-48820165 + TCGA-CJ-4892-01 COSM3364024 c.2930G>A p.G977D Substitution - Missense 23:48823329-48823329 + TCGA-AP-A051-01 COSM1122191 c.1716C>T p.C572C Substitution - coding silent 23:48816558-48816558 + TCGA-AN-A046-01 COSM3844864 c.2609G>A p.R870Q Substitution - Missense 23:48823008-48823008 + HCC86 COSM1625943 c.1974C>A p.H658Q Substitution - Missense 23:48818089-48818089 + Patient5 COSM1122178 c.98G>A p.R33Q Substitution - Missense 23:48802875-48802875 + B79 COSM1756604 c.2907T>G p.D969E Substitution - Missense 23:48823306-48823306 + TCGA-D1-A103-01 COSM1122201 c.2512A>C p.K838Q Substitution - Missense 23:48822794-48822794 + B57-Tumor COSM4005133 c.2883T>G p.I961M Substitution - Missense 23:48823282-48823282 + TCGA-HJ-7597-01 COSM4109802 c.1531A>G p.M511V Substitution - Missense 23:48816178-48816178 + 2492729 COSM5729678 c.3635C>T p.P1212L Substitution - Missense 23:48824599-48824599 + SW48 COSM4656493 c.11C>T p.T4I Substitution - Missense 23:48802703-48802703 + LUAD-NYU508 COSM374857 c.3074C>T p.S1025L Substitution - Missense 23:48823473-48823473 + NB-1942 COSM1285332 c.3606C>A p.A1202A Substitution - coding silent 23:48824570-48824570 + CSCC-55-T COSM4492096 c.390C>T p.S130S Substitution - coding silent 23:48805516-48805516 + TCGA-AT-A5NU-01 COSM4414063 c.2141A>G p.D714G Substitution - Missense 23:48818366-48818366 + TCGA-13-0904-01 COSM79962 c.439C>T p.L147L Substitution - coding silent 23:48806369-48806369 + PCSI_0307_Pa_P_526 COSM3786741 c.976G>A p.V326I Substitution - Missense 23:48814717-48814717 + TCGA-AG-3901-01 COSM4689693 c.3091_3092insC p.T1034fs*55 Insertion - Frameshift 23:48823490-48823491 + sysucc-274T COSM5476916 c.3484C>T p.L1162F Substitution - Missense 23:48824199-48824199 + TCGA-D1-A17Q-01 COSM1122195 c.1867T>C p.F623L Substitution - Missense 23:48817401-48817401 + TCGA-BR-A4QL-01 COSM4109804 c.2264C>T p.S755L Substitution - Missense 23:48820182-48820182 + TCGA-AR-A0TX-01 COSM457597 c.2518G>C p.E840Q Substitution - Missense 23:48822917-48822917 + TCGA-DI-A1NN-01 COSM1122184 c.1072G>A p.A358T Substitution - Missense 23:48814974-48814974 + TCGA-EB-A553-01 COSM3561978 c.1782C>T p.L594L Substitution - coding silent 23:48816624-48816624 + B66-0 COSM1756603 c.2874A>G p.G958G Substitution - coding silent 23:48823273-48823273 + HX37T COSM3708643 c.3132A>G p.I1044M Substitution - Missense 23:48823531-48823531 + TCGA-24-1544-01 COSM77837 c.2242C>A p.P748T Substitution - Missense 23:48820160-48820160 + TCGA-AR-A24H-01 COSM1491015 c.846G>T p.R282S Substitution - Missense 23:48814479-48814479 + TCGA-42-2590-01 COSM1331835 c.3244G>A p.G1082R Substitution - Missense 23:48823726-48823726 + TCGA-E2-A1LK-01 COSM1491016 c.1806T>A p.A602A Substitution - coding silent 23:48817340-48817340 + TCGA-EW-A3U0-01 COSM3844866 c.2726A>T p.Q909L Substitution - Missense 23:48823125-48823125 + S02274 COSM5682664 c.1652C>A p.T551K Substitution - Missense 23:48816494-48816494 + TCGA-B5-A11E-01 COSM1122200 c.2483G>A p.R828H Substitution - Missense 23:48822765-48822765 + SNU-C2B COSM4651714 c.2924C>T p.T975M Substitution - Missense 23:48823323-48823323 + TCGA-B5-A0JY-01 COSM1122203 c.2611G>T p.E871* Substitution - Nonsense 23:48823010-48823010 + TCGA-BH-A0BZ-01 COSM457593 c.208G>A p.G70R Substitution - Missense 23:48802985-48802985 + TCGA-EV-5903-01 COSM3992513 c.3288G>A p.R1096R Substitution - coding silent 23:48823770-48823770 + TCGA-Q1-A73O-01 COSM4836296 c.1521C>G p.I507M Substitution - Missense 23:48816168-48816168 + TCGA-BR-8081-01 COSM4109800 c.1499A>G p.H500R Substitution - Missense 23:48816146-48816146 + TCGA-AP-A059-01 COSM1122187 c.1194G>A p.S398S Substitution - coding silent 23:48815428-48815428 + TCGA-B5-A11E-01 COSM1122178 c.98G>A p.R33Q Substitution - Missense 23:48802875-48802875 + TCGA-G4-6302-01 COSM1468253 c.1374C>T p.S458S Substitution - coding silent 23:48815933-48815933 + TCGA-AG-A00C-01 COSM4689693 c.3091_3092insC p.T1034fs*55 Insertion - Frameshift 23:48823490-48823491 + TCGA-B0-4823-01 COSM488408 c.2562G>A p.K854K Substitution - coding silent 23:48822961-48822961 + TCGA-AP-A051-01 COSM1122206 c.3512C>T p.P1171L Substitution - Missense 23:48824227-48824227 + CRC-31T COSM5457947 c.2783C>T p.A928V Substitution - Missense 23:48823182-48823182 + TCGA-BP-5187-01 COSM488405 c.1519A>G p.I507V Substitution - Missense 23:48816166-48816166 + 18472 COSM5617561 c.933+5G>A p.? Unknown 23:48814571-48814571 + 587238 COSM1209389 c.1514A>C p.Q505P Substitution - Missense 23:48816161-48816161 + ESCC_13 COSM5625407 c.927G>C p.W309C Substitution - Missense 23:48814560-48814560 + TCGA-EE-A2GC-06 COSM3561976 c.1476C>T p.H492H Substitution - coding silent 23:48816035-48816035 + TCGA-AP-A0LD-01 COSM1122193 c.1751G>A p.G584D Substitution - Missense 23:48816593-48816593 + LUAD-RT-S01709 COSM380039 c.1527G>C p.R509R Substitution - coding silent 23:48816174-48816174 + TCGA-A8-A08T-01 COSM457595 c.855C>T p.P285P Substitution - coding silent 23:48814488-48814488 + TCGA-AX-A0J0-01 COSM1122176 c.41G>A p.R14Q Substitution - Missense 23:48802733-48802733 + TCGA-BG-A0VZ-01 COSM1122198 c.2162G>A p.R721H Substitution - Missense 23:48818387-48818387 + S02354 COSM5695705 c.2364A>C p.S788S Substitution - coding silent 23:48822646-48822646 + T3090 COSM2966588 c.1308G>T p.E436D Substitution - Missense 23:48815626-48815626 + S00946 COSM311725 c.59C>G p.P20R Substitution - Missense 23:48802751-48802751 + TCGA-EI-6917-01 COSM1122192 c.1728C>T p.F576F Substitution - coding silent 23:48816570-48816570 + NCHP_DIPG111 COSM4746132 c.3013G>T p.D1005Y Substitution - Missense 23:48823412-48823412 + TCGA-B5-A11E-01 COSM1122185 c.1121C>T p.A374V Substitution - Missense 23:48815023-48815023 + PD24206a COSM5799457 c.807-1G>T p.? Unknown 23:48814439-48814439 + T84 COSM2966595 c.1561G>A p.G521R Substitution - Missense 23:48816208-48816208 + TCGA-G4-6293-01 COSM1468257 c.3040G>A p.G1014R Substitution - Missense 23:48823439-48823439 + C058 COSM5525037 c.1680C>T p.H560H Substitution - coding silent 23:48816522-48816522 + CSCC-44-T COSM4520538 c.1063G>A p.E355K Substitution - Missense 23:48814965-48814965 + 578 COSM97849 c.619A>T p.M207L Substitution - Missense 23:48806693-48806693 + TCGA-DU-6401-01 COSM3973701 c.3424A>G p.N1142D Substitution - Missense 23:48824042-48824042 + HCC25 COSM1625940 c.388T>A p.S130T Substitution - Missense 23:48805514-48805514 + TCGA-B5-A11E-01 COSM1122189 c.1657A>C p.K553Q Substitution - Missense 23:48816499-48816499 + TCGA-D1-A15X-01 COSM1122196 c.2122C>T p.P708S Substitution - Missense 23:48818347-48818347 + PD4841a COSM5787714 c.1546G>A p.E516K Substitution - Missense 23:48816193-48816193 + 05-P8068 COSM4589446 c.2237G>T p.G746V Substitution - Missense 23:48820155-48820155 + PTC-28C COSM4156878 c.1538G>A p.R513H Substitution - Missense 23:48816185-48816185 + 41T COSM3713909 c.3095C>T p.P1032L Substitution - Missense 23:48823494-48823494 + B57-Tumor COSM4005135 c.2888A>G p.D963G Substitution - Missense 23:48823287-48823287 + 2466116 COSM5711949 c.3245G>C p.G1082A Substitution - Missense 23:48823727-48823727 + CSCC-6-T COSM4525521 c.1336G>A p.E446K Substitution - Missense 23:48815895-48815895 + HCC86T COSM1625943 c.1974C>A p.H658Q Substitution - Missense 23:48818089-48818089 + GB10 COSM1743475 c.627C>T p.I209I Substitution - coding silent 23:48806701-48806701 + TCGA-A2-A0T0-01 COSM457599 c.3318T>C p.A1106A Substitution - coding silent 23:48823936-48823936 + LUAD-CHTN-MAD06-00668 COSM360609 c.3624G>T p.G1208G Substitution - coding silent 23:48824588-48824588 + ESCC_129 COSM5642018 c.2639G>T p.G880V Substitution - Missense 23:48823038-48823038 + SNU-175 COSM4650874 c.1168G>A p.A390T Substitution - Missense 23:48815402-48815402 + ATL054 COSM5711682 c.3118A>C p.T1040P Substitution - Missense 23:48823517-48823517 + TCGA-CG-4306-01 COSM4109792 c.246A>G p.A82A Substitution - coding silent 23:48803151-48803151 + YUSUBA COSM1714932 c.2012T>G p.L671R Substitution - Missense 23:48818237-48818237 + TCGA-AP-A056-01 COSM1122202 c.2532A>G p.G844G Substitution - coding silent 23:48822931-48822931 + LUAD-B01169 COSM355803 c.265G>T p.V89L Substitution - Missense 23:48803170-48803170 + CSCC-44-T COSM4516234 c.1717_1718CC>TT p.P573F Substitution - Missense 23:48816559-48816560 + TCGA-AG-A002-01 COSM261229 c.134C>A p.P45H Substitution - Missense 23:48802911-48802911 + TCGA-AX-A05Z-01 COSM1122182 c.891C>T p.F297F Substitution - coding silent 23:48814524-48814524 + D-07 COSM4766205 c.1808C>T p.A603V Substitution - Missense 23:48817342-48817342 + 2466115 COSM5711949 c.3245G>C p.G1082A Substitution - Missense 23:48823727-48823727 + Pat_15_B COSM5877936 c.469C>A p.Q157K Substitution - Missense 23:48806399-48806399 + LUAD-E01014 COSM403500 c.1381G>A p.E461K Substitution - Missense 23:48815940-48815940 + TCGA-C8-A12P-01 COSM457598 c.3181G>A p.E1061K Substitution - Missense 23:48823580-48823580 + TCGA-BG-A0MQ-01 COSM1122199 c.2370C>T p.S790S Substitution - coding silent 23:48822652-48822652 + TCGA-BP-5173-01 COSM488406 c.1529T>C p.I510T Substitution - Missense 23:48816176-48816176 + YURAY COSM5412750 c.291C>T p.F97F Substitution - coding silent 23:48803196-48803196 + PCSI_0083_Pa_X COSM3786739 c.514G>A p.D172N Substitution - Missense 23:48806444-48806444 + TCGA-BR-4361-01 COSM4109798 c.1183G>A p.V395I Substitution - Missense 23:48815417-48815417 + Pat_06_A COSM5877939 c.1111A>G p.M371V Substitution - Missense 23:48815013-48815013 + 9113_T COSM5039317 c.3580-1G>A p.? Unknown 23:48824543-48824543 + TCGA-A7-A26J-01 COSM3844854 c.1855G>T p.G619C Substitution - Missense 23:48817389-48817389 + TCGA-AO-A0J5-01 COSM457596 c.1699G>T p.D567Y Substitution - Missense 23:48816541-48816541 + LC_S6 COSM1190968 c.546_547delCT p.A184fs*18 Deletion - Frameshift 23:48806620-48806621 + TCGA-AP-A0LM-01 COSM457598 c.3181G>A p.E1061K Substitution - Missense 23:48823580-48823580 + 587284 COSM1209390 c.649G>A p.A217T Substitution - Missense 23:48808049-48808049 + E5 COSM1666171 c.1834G>T p.A612S Substitution - Missense 23:48817368-48817368 + AOCS-094-1-1 COSM4149085 c.1637G>C p.G546A Substitution - Missense 23:48816479-48816479 + Pat_45_B COSM5877933 c.331C>T p.R111W Substitution - Missense 23:48805457-48805457 + 56506 COSM1582896 c.2892G>T p.Q964H Substitution - Missense 23:48823291-48823291 + TCGA-AA-3492-01 COSM1468256 c.2273G>T p.G758V Substitution - Missense 23:48820191-48820191 + TCGA-C4-A0F1-01 COSM422552 c.3040G>T p.G1014W Substitution - Missense 23:48823439-48823439 + TCGA-EE-A2MS-06 COSM3561984 c.2884C>T p.L962L Substitution - coding silent 23:48823283-48823283 + TCGA-29-1775-01 COSM1331836 c.2272G>A p.G758S Substitution - Missense 23:48820190-48820190 + TCGA-AX-A0J0-01 COSM1122179 c.477G>T p.M159I Substitution - Missense 23:48806407-48806407 + HCC86 COSM1625942 c.1973A>T p.H658L Substitution - Missense 23:48818088-48818088 + PD4841a COSM5787678 c.1847C>T p.A616V Substitution - Missense 23:48817381-48817381 + PTC-14C COSM4156876 c.1504G>T p.E502* Substitution - Nonsense 23:48816151-48816151 + BD72T COSM5513795 c.2967A>G p.T989T Substitution - coding silent 23:48823366-48823366 + BD121T COSM5515867 c.401G>A p.R134Q Substitution - Missense 23:48805635-48805635 + TCGA-BH-A0GZ-01 COSM4689693 c.3091_3092insC p.T1034fs*55 Insertion - Frameshift 23:48823490-48823491 + TCGA-BS-A0TJ-01 COSM1122190 c.1682G>A p.R561H Substitution - Missense 23:48816524-48816524 + TCGA-AP-A059-01 COSM1122204 c.2829C>T p.V943V Substitution - coding silent 23:48823228-48823228 + TCGA-D7-A4YV-01 COSM4109794 c.789C>T p.T263T Substitution - coding silent 23:48808309-48808309 + KYSE-450 COSM2966575 c.133C>T p.P45S Substitution - Missense 23:48802910-48802910 + TCGA-EI-6882-01 COSM1122182 c.891C>T p.F297F Substitution - coding silent 23:48814524-48814524 + sysucc-1397T COSM5475345 c.2510T>C p.M837T Substitution - Missense 23:48822792-48822792 + PTC_386 COSM5959629 c.3600C>A p.N1200K Substitution - Missense 23:48824564-48824564 + CSCC-44-T COSM4510144 c.828C>T p.H276H Substitution - coding silent 23:48814461-48814461 + SNU-175 COSM2966602 c.1849G>A p.A617T Substitution - Missense 23:48817383-48817383 + TCGA-FW-A3R5-06 COSM3914035 c.637C>A p.P213T Substitution - Missense 23:48808037-48808037 + TCGA-06-5856-01 COSM311726 c.2409A>C p.P803P Substitution - coding silent 23:48822691-48822691 + MPCC_0037_Pa_C COSM3379637 c.2325C>T p.I775I Substitution - coding silent 23:48820243-48820243 + MedB-1 COSM5620939 c.1855G>A p.G619S Substitution - Missense 23:48817389-48817389 + TCGA-C5-A2M2-01 COSM4837668 c.2984C>T p.S995L Substitution - Missense 23:48823383-48823383 + T2955 COSM4689691 c.2299A>T p.M767L Substitution - Missense 23:48820217-48820217 + SJACT069_D COSM4968290 c.1459C>G p.Q487E Substitution - Missense 23:48816018-48816018 + S02242 COSM5677566 c.3421G>C p.E1141Q Substitution - Missense 23:48824039-48824039 + TCGA-AC-A23H-01 COSM3844862 c.2601G>A p.M867I Substitution - Missense 23:48823000-48823000 + I2L-P10-Tumor-Organoid COSM3786739 c.514G>A p.D172N Substitution - Missense 23:48806444-48806444 + SNUH_G76_S1 COSM4419124 c.2265A>G p.S755S Substitution - coding silent 23:48820183-48820183 + TCGA-EJ-5525-01 COSM1132295 c.1102C>T p.H368Y Substitution - Missense 23:48815004-48815004 + TCGA-DK-A3IL-01 COSM1315553 c.3344A>G p.H1115R Substitution - Missense 23:48823962-48823962 + TCGA-A8-A0A6-01 COSM3844858 c.2291A>C p.H764P Substitution - Missense 23:48820209-48820209 + HCC2998 COSM4631917 c.2774C>A p.S925Y Substitution - Missense 23:48823173-48823173 + PT32 COSM5907797 c.2486G>A p.R829K Substitution - Missense 23:48822768-48822768 + TCGA-AP-A059-01 COSM1122186 c.1182C>T p.G394G Substitution - coding silent 23:48815416-48815416 + CSCC-35-T COSM4462011 c.122C>T p.P41L Substitution - Missense 23:48802899-48802899 + TCGA-CJ-6027-01 COSM488407 c.1554C>T p.G518G Substitution - coding silent 23:48816201-48816201 + TCGA-HU-A4GQ-01 COSM4109809 c.2962G>A p.A988T Substitution - Missense 23:48823361-48823361 + BCM399T COSM4950011 c.645T>G p.H215Q Substitution - Missense 23:48808045-48808045 + LUAD-RT-S01709 COSM380038 c.671G>T p.G224V Substitution - Missense 23:48808071-48808071 + 61 COSM5742267 c.3207G>T p.Q1069H Substitution - Missense 23:48823689-48823689 + TCGA-FS-A1ZA-06 COSM1122192 c.1728C>T p.F576F Substitution - coding silent 23:48816570-48816570 + YURAY COSM5412756 c.2068C>T p.Q690* Substitution - Nonsense 23:48818293-48818293 + HCC25T COSM1625940 c.388T>A p.S130T Substitution - Missense 23:48805514-48805514 + BD72T COSM5513791 c.1737A>G p.A579A Substitution - coding silent 23:48816579-48816579 + 001 COSM1161969 c.1765C>A p.L589M Substitution - Missense 23:48816607-48816607 + pfg024T COSM1209390 c.649G>A p.A217T Substitution - Missense 23:48808049-48808049 + KYSE-150 COSM2966616 c.3203C>T p.S1068F Substitution - Missense 23:48823685-48823685 + TCGA-AP-A054-01 COSM1122207 c.3542C>T p.A1181V Substitution - Missense 23:48824257-48824257 + TCGA-A3-3324-01 COSM1138157 c.1776T>A p.A592A Substitution - coding silent 23:48816618-48816618 + TCGA-EE-A3AF-06 COSM3561982 c.2850G>A p.Q950Q Substitution - coding silent 23:48823249-48823249 + 8015299 COSM1169197 c.144G>A p.A48A Substitution - coding silent 23:48802921-48802921 + BD72T COSM5513793 c.2634C>T p.G878G Substitution - coding silent 23:48823033-48823033 + PD11748a COSM5793057 c.829C>T p.R277C Substitution - Missense 23:48814462-48814462 + TCGA-EE-A2GO-06 COSM3561974 c.379C>T p.R127C Substitution - Missense 23:48805505-48805505 + S02384 COSM5698684 c.3077G>T p.S1026I Substitution - Missense 23:48823476-48823476 + TCGA-ER-A19L-06 COSM311726 c.2409A>C p.P803P Substitution - coding silent 23:48822691-48822691 + 145 COSM3735339 c.3353C>T p.A1118V Substitution - Missense 23:48823971-48823971 + T578 COSM1122192 c.1728C>T p.F576F Substitution - coding silent 23:48816570-48816570 + TCGA-B5-A11E-01 COSM1122177 c.92C>T p.S31L Substitution - Missense 23:48802784-48802784 + PA285 COSM1163567 c.2116A>G p.N706D Substitution - Missense 23:48818341-48818341 + TCGA-BH-A18G-01 COSM1468255 c.2247delG p.G751fs*16 Deletion - Frameshift 23:48820165-48820165 + TCGA-A8-A0A6-01 COSM3844852 c.857A>C p.H286P Substitution - Missense 23:48814490-48814490 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.6764 Xp11.23 300272 2418219|CGAP|BC013737|C/T|non-coding||3658|Candidate; 2418219|CGAP|BC069243|C/T|non-coding||3775|Candidate; 1511875|dbSNP|BC013737|C/T|coding|Thr842Ile|2962|Candidate; 1511875|dbSNP|BC069243|C/T|coding|Thr994Ile|3079|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.P803P c.2409A>C X 48681101 BLCA A C Synonymous p.P803P c.2409A>C X 48681101 GBM A C Synonymous p.P803P c.2409A>C X 48681101 LUAD A C Synonymous p.P803P c.2409A>C X 48681101 SCLC A G Missense p.H1115R c.3344A>G X 48682372 BLCA A G Missense p.I1157V c.3469A>G X 48682594 BRCA A G Missense p.I507V c.1519A>G X 48674573 RCCC A G Missense p.K838R c.2513A>G X 48681322 LUAD A G Missense p.N1142D c.3424A>G X 48682452 LGG A G Synonymous p.A82A c.246A>G X 48661558 STAD A T Missense p.M207L c.619A>T X 48665100 HNSC C A IntronicSNV . c.534+72C>A X 48664943 NSCLC C A Missense p.P748T c.2242C>A X 48678567 OV C A Synonymous p.A1202A c.3606C>A X 48682980 NB C A Synonymous p.A184A c.552C>A X 48665033 BRCA C A Synonymous p.S425S c.1275C>A X 48674000 STAD - C Frameshift p.T1034Nfs*55 c.3098dupC X 48681901 STAD C G Missense p.L152V c.454C>G X 48664791 STAD C G Missense p.P106R c.317C>G X 48663850 LUAD C G Missense p.P20R c.59C>G X 48661158 SCLC C T IntronicSNV . c.1324+74C>T X 48674123 CM C T IntronicSNV . c.1926-4C>T X 48676444 CM C T IntronicSNV . c.2188-83C>T X 48678430 CM C T Missense p.A1181V c.3542C>T X 48682667 UCEC C T Missense p.H368Y c.1102C>T X 48673411 PRAD C T Missense p.L192F c.574C>T X 48665055 CM C T Missense p.P433L c.1298C>T X 48674023 CM C T Missense p.R127C c.379C>T X 48663912 CM C T Missense p.R529C c.1585C>T X 48674639 SCLC C T Synonymous p.F576F c.1728C>T X 48674977 CM C T Synonymous p.G189G c.567C>T X 48665048 LUAD C T Synonymous p.G518G c.1554C>T X 48674608 RCCC C T Synonymous p.H492H c.1476C>T X 48674442 CM C T Synonymous p.I820I c.2460C>T X 48681152 CM C T Synonymous p.L147L c.439C>T X 48664776 OV C T Synonymous p.L934L c.2800C>T X 48681609 SCLC C T Synonymous p.L962L c.2884C>T X 48681693 CM C T Synonymous p.P285P c.855C>T X 48672895 BRCA C T Synonymous p.S790S c.2370C>T X 48681062 UCEC G A 3-UTRSNV . c.3645+10G>A X 48683029 CM G A IntronicSNV . c.807-112G>A X 48672735 CLL G A IntronicSNV . c.933+5G>A X 48672978 NSCLC G A Missense p.A217T c.649G>A X 48666456 STAD G A Missense p.A358T c.1072G>A X 48673381 UCEC G A Missense p.D267N c.799G>A X 48666726 CM G A Missense p.E1061K c.3181G>A X 48681990 BRCA G A Missense p.G584D c.1751G>A X 48675000 UCEC G A Missense p.G60S c.178G>A X 48661362 GBM G A Missense p.G70R c.208G>A X 48661392 BRCA G A Missense p.G977D c.2930G>A X 48681739 RCCC G A Missense p.R561H c.1682G>A X 48674931 UCEC G A Missense p.R721H c.2162G>A X 48676794 UCEC G A Synonymous p.K854K c.2562G>A X 48681371 RCCC G A Synonymous p.Q950Q c.2850G>A X 48681659 CM G C Missense p.D567H c.1699G>C X 48674948 PRAD G C Missense p.D963H c.2887G>C X 48681696 HNSC G C Missense p.E779Q c.2335G>C X 48678660 MM G T Missense p.D567Y c.1699G>T X 48674948 BRCA G T Missense p.G1126C c.3376G>T X 48682404 LGG G T Missense p.G746W c.2236G>T X 48678561 HNSC G T Missense p.R236L c.707G>T X 48666514 BLCA G T Missense p.R282S c.846G>T X 48672886 BRCA G T Missense p.R842I c.2525G>T X 48681334 HNSC G T Missense p.V89L c.265G>T X 48661577 LUAD T A Nonsense p.C1133* c.3399T>A X 48682427 LUAD T A Synonymous p.A602A c.1806T>A X 48675747 BRCA T C Missense p.I510T c.1529T>C X 48674583 RCCC T C Synonymous p.A1106A c.3318T>C X 48682346 BRCA T C Synonymous p.A1194A c.3582T>C X 48682956 CM T C Synonymous p.L508L c.1522T>C X 48674576 OV T G Missense p.F273V c.817T>G X 48672857 HNSC T G Missense p.F566L c.1698T>G X 48674947 PRAD