Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 23 135751656 135751656 + Silent SNP G G C TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chrX:135751656G>C c.2175C>G c.(2173-2175)gtC>gtG p.V725V BLCA 23 135754203 135754203 + Missense_Mutation SNP T T C TCGA-5N-A9KM-01A-11D-A42E-08 TCGA-5N-A9KM-10A-01D-A42H-08 g.chrX:135754203T>C c.2111A>G c.(2110-2112)aAc>aGc p.N704S BLCA 23 135761777 135761777 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 g.chrX:135761777G>A c.1747C>T c.(1747-1749)Cct>Tct p.P583S BLCA 23 135767973 135767973 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 g.chrX:135767973G>C c.1255C>G c.(1255-1257)Caa>Gaa p.Q419E BLCA 23 135772879 135772879 + Missense_Mutation SNP G G C TCGA-4Z-AA89-01A-11D-A391-08 TCGA-4Z-AA89-10A-01D-A394-08 g.chrX:135772879G>C c.1075C>G c.(1075-1077)Caa>Gaa p.Q359E BLCA 23 135814312 135814312 + Frame_Shift_Del DEL T T - TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 g.chrX:135814312delT c.681delA c.(679-681)aaafs p.K227fs BLCA 23 135825836 135825836 + Missense_Mutation SNP G G A TCGA-G2-AA3C-01A-21D-A391-08 TCGA-G2-AA3C-10A-01D-A394-08 g.chrX:135825836G>A c.569C>T c.(568-570)aCa>aTa p.T190I BLCA 23 135825921 135825921 + Missense_Mutation SNP G G C TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chrX:135825921G>C c.484C>G c.(484-486)Cag>Gag p.Q162E BLCA 23 135862910 135862910 + Silent SNP C C G TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chrX:135862910C>G c.132G>C c.(130-132)ctG>ctC p.L44L BRCA 23 135750295 135750295 + Missense_Mutation SNP C C T TCGA-E9-A295-01A-11D-A16D-09 TCGA-E9-A295-10A-01D-A16D-09 g.chrX:135750295C>T c.2224G>A c.(2224-2226)Gaa>Aaa p.E742K BRCA 23 135761740 135761740 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chrX:135761740C>T c.1784G>A c.(1783-1785)cGa>cAa p.R595Q BRCA 23 135764932 135764932 + Missense_Mutation SNP A A T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 g.chrX:135764932A>T c.1464T>A c.(1462-1464)agT>agA p.S488R BRCA 23 135767916 135767916 + Missense_Mutation SNP C C G TCGA-GI-A2C8-01A-11D-A16D-09 TCGA-GI-A2C8-11A-22D-A16D-09 g.chrX:135767916C>G c.1312G>C c.(1312-1314)Gca>Cca p.A438P BRCA 23 135767928 135767928 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chrX:135767928C>T c.1300G>A c.(1300-1302)Gaa>Aaa p.E434K BRCA 23 135772826 135772826 + Silent SNP T T C TCGA-BH-A0E7-01A-11W-A050-09 TCGA-BH-A0E7-10A-01W-A055-09 g.chrX:135772826T>C c.1128A>G c.(1126-1128)ccA>ccG p.P376P BRCA 23 135827435 135827435 + Missense_Mutation SNP G G C TCGA-AQ-A1H3-01A-31D-A13L-09 TCGA-AQ-A1H3-10A-01D-A188-09 g.chrX:135827435G>C c.406C>G c.(406-408)Cag>Gag p.Q136E CESC 23 135762923 135762923 + Silent SNP G G T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 g.chrX:135762923G>T c.1671C>A c.(1669-1671)tcC>tcA p.S557S CESC 23 135763011 135763011 + Missense_Mutation SNP A A G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 g.chrX:135763011A>G c.1583T>C c.(1582-1584)gTc>gCc p.V528A CESC 23 135763034 135763034 + Splice_Site SNP A A G TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 g.chrX:135763034A>G c.1560T>C c.(1558-1560)ggT>ggC p.G520G COAD 23 135750192 135750192 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chrX:135750192G>A c.2327C>T c.(2326-2328)cCa>cTa p.P776L COAD 23 135750225 135750225 + Missense_Mutation SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chrX:135750225C>T c.2294G>A c.(2293-2295)cGa>cAa p.R765Q COAD 23 135750296 135750296 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chrX:135750296T>G c.2223A>C c.(2221-2223)gaA>gaC p.E741D COAD 23 135757208 135757208 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chrX:135757208C>T c.1993G>A c.(1993-1995)Gcc>Acc p.A665T COAD 23 135758817 135758818 + Frame_Shift_Del DEL TC TC - TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chrX:135758817_135758818delTC c.1910_1911delGA c.(1909-1911)agafs p.R637fs COAD 23 135758845 135758845 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chrX:135758845T>G c.1883A>C c.(1882-1884)aAa>aCa p.K628T COAD 23 135761808 135761808 + Silent SNP A A C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chrX:135761808A>C c.1716T>G c.(1714-1716)tcT>tcG p.S572S COAD 23 135764062 135764062 + Silent SNP T T A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chrX:135764062T>A c.1545A>T c.(1543-1545)acA>acT p.T515T COAD 23 135764064 135764064 + Missense_Mutation SNP T T G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chrX:135764064T>G c.1543A>C c.(1543-1545)Aca>Cca p.T515P COAD 23 135764085 135764085 + Nonsense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:135764085C>A c.1522G>T c.(1522-1524)Gaa>Taa p.E508* COAD 23 135764963 135764963 + Missense_Mutation SNP A A G TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chrX:135764963A>G c.1433T>C c.(1432-1434)cTg>cCg p.L478P COAD 23 135767979 135767979 + Nonsense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chrX:135767979G>A c.1249C>T c.(1249-1251)Caa>Taa p.Q417* COAD 23 135770100 135770100 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:135770100T>G c.1236A>C c.(1234-1236)aaA>aaC p.K412N COAD 23 135770112 135770112 + Silent SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chrX:135770112G>A c.1224C>T c.(1222-1224)atC>atT p.I408I COAD 23 135795499 135795499 + Nonsense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chrX:135795499C>A c.763G>T c.(763-765)Gaa>Taa p.E255* COAD 23 135795515 135795515 + Silent SNP G G A TCGA-CM-6165-01A-11D-1650-10 TCGA-CM-6165-10A-01D-1650-10 g.chrX:135795515G>A c.747C>T c.(745-747)atC>atT p.I249I COAD 23 135814276 135814276 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:135814276C>A c.717G>T c.(715-717)aaG>aaT p.K239N COAD 23 135825807 135825807 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:135825807C>T c.598G>A c.(598-600)Ggc>Agc p.G200S COAD 23 135829721 135829721 + Missense_Mutation SNP C C T TCGA-DM-A28C-01A-11D-A16V-10 TCGA-DM-A28C-10A-01D-A16V-10 g.chrX:135829721C>T c.280G>A c.(280-282)Gtc>Atc p.V94I COAD 23 135862962 135862962 + Missense_Mutation SNP G G A TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chrX:135862962G>A c.80C>T c.(79-81)cCg>cTg p.P27L COADREAD 23 135750192 135750192 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chrX:135750192G>A c.2327C>T c.(2326-2328)cCa>cTa p.P776L COADREAD 23 135750225 135750225 + Missense_Mutation SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chrX:135750225C>T c.2294G>A c.(2293-2295)cGa>cAa p.R765Q COADREAD 23 135750296 135750296 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chrX:135750296T>G c.2223A>C c.(2221-2223)gaA>gaC p.E741D COADREAD 23 135751652 135751652 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:135751652C>A c.2179G>T c.(2179-2181)Gaa>Taa p.E727* COADREAD 23 135757193 135757193 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:135757193C>T c.2008G>A c.(2008-2010)Gca>Aca p.A670T COADREAD 23 135757208 135757208 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chrX:135757208C>T c.1993G>A c.(1993-1995)Gcc>Acc p.A665T COADREAD 23 135758817 135758818 + Frame_Shift_Del DEL TC TC - TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chrX:135758817_135758818delTC c.1910_1911delGA c.(1909-1911)agafs p.R637fs COADREAD 23 135758845 135758845 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chrX:135758845T>G c.1883A>C c.(1882-1884)aAa>aCa p.K628T COADREAD 23 135761808 135761808 + Silent SNP A A C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chrX:135761808A>C c.1716T>G c.(1714-1716)tcT>tcG p.S572S COADREAD 23 135764062 135764062 + Silent SNP T T A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chrX:135764062T>A c.1545A>T c.(1543-1545)acA>acT p.T515T COADREAD 23 135764064 135764064 + Missense_Mutation SNP T T G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chrX:135764064T>G c.1543A>C c.(1543-1545)Aca>Cca p.T515P COADREAD 23 135764085 135764085 + Nonsense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:135764085C>A c.1522G>T c.(1522-1524)Gaa>Taa p.E508* COADREAD 23 135764963 135764963 + Missense_Mutation SNP A A G TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chrX:135764963A>G c.1433T>C c.(1432-1434)cTg>cCg p.L478P COADREAD 23 135767979 135767979 + Nonsense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chrX:135767979G>A c.1249C>T c.(1249-1251)Caa>Taa p.Q417* COADREAD 23 135770100 135770100 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:135770100T>G c.1236A>C c.(1234-1236)aaA>aaC p.K412N COADREAD 23 135770112 135770112 + Silent SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chrX:135770112G>A c.1224C>T c.(1222-1224)atC>atT p.I408I COADREAD 23 135795499 135795499 + Nonsense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chrX:135795499C>A c.763G>T c.(763-765)Gaa>Taa p.E255* COADREAD 23 135795515 135795515 + Silent SNP G G A TCGA-CM-6165-01A-11D-1650-10 TCGA-CM-6165-10A-01D-1650-10 g.chrX:135795515G>A c.747C>T c.(745-747)atC>atT p.I249I COADREAD 23 135814276 135814276 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:135814276C>A c.717G>T c.(715-717)aaG>aaT p.K239N COADREAD 23 135825807 135825807 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:135825807C>T c.598G>A c.(598-600)Ggc>Agc p.G200S COADREAD 23 135829721 135829721 + Missense_Mutation SNP C C T TCGA-DM-A28C-01A-11D-A16V-10 TCGA-DM-A28C-10A-01D-A16V-10 g.chrX:135829721C>T c.280G>A c.(280-282)Gtc>Atc p.V94I COADREAD 23 135862962 135862962 + Missense_Mutation SNP G G A TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chrX:135862962G>A c.80C>T c.(79-81)cCg>cTg p.P27L COADREAD 23 135862981 135862981 + Nonsense_Mutation SNP T T A TCGA-AF-2691-01A-01W-0831-10 TCGA-AF-2691-10A-01W-0831-10 g.chrX:135862981T>A c.61A>T c.(61-63)Aaa>Taa p.K21* ESCA 23 135761794 135761794 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 g.chrX:135761794C>A c.1730G>T c.(1729-1731)cGa>cTa p.R577L ESCA 23 135772773 135772773 + Missense_Mutation SNP A A T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 g.chrX:135772773A>T c.1181T>A c.(1180-1182)aTg>aAg p.M394K GBM 23 135754253 135754253 + Missense_Mutation SNP T T A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 g.chrX:135754253T>A c.2061A>T c.(2059-2061)caA>caT p.Q687H GBM 23 135825762 135825762 + Missense_Mutation SNP G G A TCGA-26-6174-01A-21D-1845-08 TCGA-26-6174-10A-01D-1845-08 g.chrX:135825762G>A c.643C>T c.(643-645)Cgt>Tgt p.R215C GBMLGG 23 135750295 135750295 + Missense_Mutation SNP C C T TCGA-DH-A66G-01A-21D-A31L-08 TCGA-DH-A66G-10A-01D-A31J-08 g.chrX:135750295C>T c.2224G>A c.(2224-2226)Gaa>Aaa p.E742K GBMLGG 23 135750301 135750301 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:135750301C>T c.2218G>A c.(2218-2220)Gaa>Aaa p.E740K GBMLGG 23 135754253 135754253 + Missense_Mutation SNP T T A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 g.chrX:135754253T>A c.2061A>T c.(2059-2061)caA>caT p.Q687H GBMLGG 23 135825762 135825762 + Missense_Mutation SNP G G A TCGA-26-6174-01A-21D-1845-08 TCGA-26-6174-10A-01D-1845-08 g.chrX:135825762G>A c.643C>T c.(643-645)Cgt>Tgt p.R215C GBMLGG 23 135825810 135825810 + Nonsense_Mutation SNP C C A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 g.chrX:135825810C>A c.595G>T c.(595-597)Gaa>Taa p.E199* GBMLGG 23 135825938 135825938 + Missense_Mutation SNP G G A TCGA-KT-A7W1-01A-11D-A34A-08 TCGA-KT-A7W1-10A-01D-A34A-08 g.chrX:135825938G>A c.467C>T c.(466-468)aCg>aTg p.T156M GBMLGG 23 135862897 135862897 + Missense_Mutation SNP T T A TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 g.chrX:135862897T>A c.145A>T c.(145-147)Atg>Ttg p.M49L HNSC 23 135750260 135750260 + Silent SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 g.chrX:135750260C>T c.2259G>A c.(2257-2259)gtG>gtA p.V753V HNSC 23 135754234 135754234 + Nonsense_Mutation SNP C C A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 g.chrX:135754234C>A c.2080G>T c.(2080-2082)Gag>Tag p.E694* HNSC 23 135757211 135757211 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 g.chrX:135757211C>T c.1990G>A c.(1990-1992)Gaa>Aaa p.E664K HNSC 23 135764128 135764128 + Splice_Site SNP C C A TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chrX:135764128C>A c.e14-1 HNSC 23 135764979 135764979 + Missense_Mutation SNP A A C TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 g.chrX:135764979A>C c.1417T>G c.(1417-1419)Tta>Gta p.L473V HNSC 23 135795499 135795499 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 g.chrX:135795499C>T c.763G>A c.(763-765)Gaa>Aaa p.E255K HNSC 23 135814307 135814307 + Missense_Mutation SNP A A G TCGA-CV-A6JZ-01A-11D-A31L-08 TCGA-CV-A6JZ-10A-01D-A31J-08 g.chrX:135814307A>G c.686T>C c.(685-687)gTc>gCc p.V229A HNSC 23 135825852 135825852 + Frame_Shift_Del DEL C C - TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 g.chrX:135825852delC c.553delG c.(553-555)gacfs p.D185fs HNSC 23 135862907 135862907 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 g.chrX:135862907G>A c.135C>T c.(133-135)atC>atT p.I45I HNSC 23 135862940 135862940 + Silent SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 g.chrX:135862940C>T c.102G>A c.(100-102)tcG>tcA p.S34S KIPAN 23 135825892 135825892 + Missense_Mutation SNP A A T TCGA-G7-6793-01A-11D-1961-08 TCGA-G7-6793-10A-01D-1962-08 g.chrX:135825892A>T c.513T>A c.(511-513)ttT>ttA p.F171L KIPAN 23 135829736 135829736 + Missense_Mutation SNP C C T TCGA-CZ-5985-01A-11D-1669-08 TCGA-CZ-5985-11A-01D-1669-08 g.chrX:135829736C>T c.265G>A c.(265-267)Gac>Aac p.D89N KIRC 23 135829736 135829736 + Missense_Mutation SNP C C T TCGA-CZ-5985-01A-11D-1669-08 TCGA-CZ-5985-11A-01D-1669-08 g.chrX:135829736C>T c.265G>A c.(265-267)Gac>Aac p.D89N KIRP 23 135825892 135825892 + Missense_Mutation SNP A A T TCGA-G7-6793-01A-11D-1961-08 TCGA-G7-6793-10A-01D-1962-08 g.chrX:135825892A>T c.513T>A c.(511-513)ttT>ttA p.F171L LAML 23 135772783 135772783 + Frame_Shift_Del DEL C C - TCGA-AB-2950-03A-01W-0733-08 TCGA-AB-2950-11A-01W-0732-08 g.chrX:135772783delC c.1171delG c.(1171-1173)gaafs p.E391fs LGG 23 135750295 135750295 + Missense_Mutation SNP C C T TCGA-DH-A66G-01A-21D-A31L-08 TCGA-DH-A66G-10A-01D-A31J-08 g.chrX:135750295C>T c.2224G>A c.(2224-2226)Gaa>Aaa p.E742K LGG 23 135750301 135750301 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:135750301C>T c.2218G>A c.(2218-2220)Gaa>Aaa p.E740K LGG 23 135825810 135825810 + Nonsense_Mutation SNP C C A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 g.chrX:135825810C>A c.595G>T c.(595-597)Gaa>Taa p.E199* LGG 23 135825938 135825938 + Missense_Mutation SNP G G A TCGA-KT-A7W1-01A-11D-A34A-08 TCGA-KT-A7W1-10A-01D-A34A-08 g.chrX:135825938G>A c.467C>T c.(466-468)aCg>aTg p.T156M LGG 23 135862897 135862897 + Missense_Mutation SNP T T A TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 g.chrX:135862897T>A c.145A>T c.(145-147)Atg>Ttg p.M49L LIHC 23 135757211 135757211 + Missense_Mutation SNP C C G TCGA-DD-A1EL-01A-11D-A152-10 TCGA-DD-A1EL-10A-01D-A152-10 g.chrX:135757211C>G c.1990G>C c.(1990-1992)Gaa>Caa p.E664Q LIHC 23 135767930 135767930 + Missense_Mutation SNP G G C TCGA-DD-A1EB-01A-11D-A12Z-10 TCGA-DD-A1EB-10A-01D-A12Z-10 g.chrX:135767930G>C c.1298C>G c.(1297-1299)tCc>tGc p.S433C LIHC 23 135863020 135863020 + Missense_Mutation SNP C C T TCGA-FV-A4ZP-01A-12D-A25V-10 TCGA-FV-A4ZP-11A-12D-A25V-10 g.chrX:135863020C>T c.22G>A c.(22-24)Gtg>Atg p.V8M LUAD 23 135750262 135750262 + Missense_Mutation SNP C C A TCGA-MP-A4T4-01A-11D-A25L-08 TCGA-MP-A4T4-10A-01D-A25L-08 g.chrX:135750262C>A c.2257G>T c.(2257-2259)Gtg>Ttg p.V753L LUAD 23 135757176 135757176 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 g.chrX:135757176G>T c.2025C>A c.(2023-2025)ggC>ggA p.G675G LUAD 23 135758848 135758848 + Missense_Mutation SNP T T C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 g.chrX:135758848T>C c.1880A>G c.(1879-1881)aAg>aGg p.K627R LUAD 23 135761737 135761737 + Missense_Mutation SNP G G C TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 g.chrX:135761737G>C c.1787C>G c.(1786-1788)cCt>cGt p.P596R LUAD 23 135762897 135762897 + Missense_Mutation SNP G G A TCGA-55-6975-01A-11D-1945-08 TCGA-55-6975-11A-01D-1945-08 g.chrX:135762897G>A c.1697C>T c.(1696-1698)gCt>gTt p.A566V LUAD 23 135764068 135764068 + Missense_Mutation SNP G G T TCGA-97-A4M0-01A-11D-A24P-08 TCGA-97-A4M0-10A-01D-A24P-08 g.chrX:135764068G>T c.1539C>A c.(1537-1539)gaC>gaA p.D513E LUAD 23 135764989 135764989 + Silent SNP C C G TCGA-55-7724-01A-11D-2167-08 TCGA-55-7724-10A-01D-2167-08 g.chrX:135764989C>G c.1407G>C c.(1405-1407)cgG>cgC p.R469R LUAD 23 135767851 135767851 + Missense_Mutation SNP C C A TCGA-55-A48X-01A-11D-A24D-08 TCGA-55-A48X-10A-01D-A24F-08 g.chrX:135767851C>A c.1377G>T c.(1375-1377)caG>caT p.Q459H LUAD 23 135770096 135770096 + Missense_Mutation SNP G G C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 g.chrX:135770096G>C c.1240C>G c.(1240-1242)Ctc>Gtc p.L414V LUAD 23 135770121 135770121 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 g.chrX:135770121C>T c.1215G>A c.(1213-1215)ctG>ctA p.L405L LUAD 23 135770132 135770132 + Missense_Mutation SNP G G C TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chrX:135770132G>C c.1204C>G c.(1204-1206)Cag>Gag p.Q402E LUAD 23 135770132 135770132 + Missense_Mutation SNP G G T TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chrX:135770132G>T c.1204C>A c.(1204-1206)Cag>Aag p.Q402K LUAD 23 135772779 135772779 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 g.chrX:135772779C>T c.1175G>A c.(1174-1176)cGg>cAg p.R392Q LUAD 23 135825773 135825773 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 g.chrX:135825773C>A c.632G>T c.(631-633)aGt>aTt p.S211I LUAD 23 135825788 135825788 + Missense_Mutation SNP G G C TCGA-55-8299-01A-11D-2284-08 TCGA-55-8299-10B-01D-2323-08 g.chrX:135825788G>C c.617C>G c.(616-618)aCa>aGa p.T206R LUAD 23 135825841 135825841 + Nonsense_Mutation SNP G G T TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chrX:135825841G>T c.564C>A c.(562-564)taC>taA p.Y188* LUAD 23 135827428 135827428 + Missense_Mutation SNP G G T TCGA-73-4670-01A-01D-1265-08 TCGA-73-4670-11A-01D-1265-08 g.chrX:135827428G>T c.413C>A c.(412-414)gCa>gAa p.A138E LUAD 23 135827450 135827450 + Missense_Mutation SNP A A T TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 g.chrX:135827450A>T c.391T>A c.(391-393)Tct>Act p.S131T LUAD 23 135829672 135829672 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 g.chrX:135829672G>A c.329C>T c.(328-330)aCa>aTa p.T110I LUAD 23 135829707 135829707 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 g.chrX:135829707C>A c.294G>T c.(292-294)aaG>aaT p.K98N LUAD 23 135861614 135861616 + In_Frame_Del DEL TGT TGT - TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chrX:135861614_135861616delTGT c.206_208delACA c.(205-210)aacatc>atc p.N69del LUAD 23 135863013 135863013 + Missense_Mutation SNP C C G TCGA-J2-A4AD-01A-11D-A24D-08 TCGA-J2-A4AD-10A-01D-A24F-08 g.chrX:135863013C>G c.29G>C c.(28-30)tGg>tCg p.W10S LUAD 23 135863028 135863028 + Missense_Mutation SNP T T C TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chrX:135863028T>C c.14A>G c.(13-15)gAa>gGa p.E5G LUSC 23 135758808 135758808 + Silent SNP C C T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 g.chrX:135758808C>T c.1920G>A c.(1918-1920)tcG>tcA p.S640S LUSC 23 135795454 135795454 + Missense_Mutation SNP G G T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 g.chrX:135795454G>T c.808C>A c.(808-810)Ccc>Acc p.P270T LUSC 23 135825761 135825761 + Missense_Mutation SNP C C T TCGA-66-2793-01A-01D-1267-08 TCGA-66-2793-11A-01D-1267-08 g.chrX:135825761C>T c.644G>A c.(643-645)cGt>cAt p.R215H PAAD 23 135789073 135789073 + Missense_Mutation SNP T T A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 g.chrX:135789073T>A c.1040A>T c.(1039-1041)cAg>cTg p.Q347L PAAD 23 135862894 135862894 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:135862894G>A c.148C>T c.(148-150)Cct>Tct p.P50S PRAD 23 135790919 135790919 + Missense_Mutation SNP C C T TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chrX:135790919C>T c.838G>A c.(838-840)Gtg>Atg p.V280M READ 23 135751652 135751652 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:135751652C>A c.2179G>T c.(2179-2181)Gaa>Taa p.E727* READ 23 135757193 135757193 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:135757193C>T c.2008G>A c.(2008-2010)Gca>Aca p.A670T READ 23 135862981 135862981 + Nonsense_Mutation SNP T T A TCGA-AF-2691-01A-01W-0831-10 TCGA-AF-2691-10A-01W-0831-10 g.chrX:135862981T>A c.61A>T c.(61-63)Aaa>Taa p.K21* SARC 23 135757223 135757223 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chrX:135757223G>A c.1978C>T c.(1978-1980)Ctt>Ttt p.L660F SARC 23 135827388 135827388 + Missense_Mutation SNP C C A TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 g.chrX:135827388C>A c.453G>T c.(451-453)aaG>aaT p.K151N SKCM 23 135751662 135751662 + Missense_Mutation SNP G G C TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chrX:135751662G>C c.2169C>G c.(2167-2169)gaC>gaG p.D723E SKCM 23 135757223 135757223 + Missense_Mutation SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chrX:135757223G>A c.1978C>T c.(1978-1980)Ctt>Ttt p.L660F SKCM 23 135758808 135758808 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:135758808C>T c.1920G>A c.(1918-1920)tcG>tcA p.S640S SKCM 23 135762891 135762891 + Splice_Site SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chrX:135762891G>A c.1703C>T c.(1702-1704)tCt>tTt p.S568F SKCM 23 135762906 135762906 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chrX:135762906G>A c.1688C>T c.(1687-1689)tCa>tTa p.S563L SKCM 23 135764126 135764126 + Splice_Site SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chrX:135764126C>T c.1481G>A c.(1480-1482)gGa>gAa p.G494E SKCM 23 135764997 135764997 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chrX:135764997C>T c.1399G>A c.(1399-1401)Gag>Aag p.E467K SKCM 23 135770135 135770135 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chrX:135770135G>A c.1201C>T c.(1201-1203)Cat>Tat p.H401Y SKCM 23 135770138 135770138 + Missense_Mutation SNP C C T TCGA-ER-A2NC-06A-11D-A197-08 TCGA-ER-A2NC-10A-01D-A199-08 g.chrX:135770138C>T c.1198G>A c.(1198-1200)Gat>Aat p.D400N SKCM 23 135827495 135827495 + Missense_Mutation SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chrX:135827495C>T c.346G>A c.(346-348)Gaa>Aaa p.E116K SKCM 23 135829724 135829724 + Missense_Mutation SNP C C T TCGA-D3-A2J7-06A-11D-A196-08 TCGA-D3-A2J7-10A-01D-A198-08 g.chrX:135829724C>T c.277G>A c.(277-279)Ggg>Agg p.G93R SKCM 23 135862953 135862953 + Missense_Mutation SNP A A C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chrX:135862953A>C c.89T>G c.(88-90)tTt>tGt p.F30C

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US X 135761777 135761777 single base substitution G A missense_variant P429S 1285C>T BLCA-US X 135761777 135761777 single base substitution G A missense_variant P456S 1366C>T BLCA-US X 135761777 135761777 single base substitution G A missense_variant P583S 1747C>T BLCA-US X 135814312 135814312 deletion of <=200bp T - frameshift_variant K100 BLCA-US X 135814312 135814312 deletion of <=200bp T - frameshift_variant K227 BLCA-US X 135814312 135814312 deletion of <=200bp T - frameshift_variant K73 BRCA-EU X 135742714 135742714 single base substitution C A downstream_gene_variant BRCA-EU X 135742932 135742932 single base substitution C T downstream_gene_variant BRCA-EU X 135743232 135743232 single base substitution T C downstream_gene_variant BRCA-EU X 135744350 135744350 single base substitution C T downstream_gene_variant BRCA-EU X 135745124 135745124 single base substitution A C downstream_gene_variant BRCA-EU X 135746376 135746376 single base substitution G A downstream_gene_variant BRCA-EU X 135747910 135747910 single base substitution G A 3_prime_UTR_variant BRCA-EU X 135747910 135747910 single base substitution G A downstream_gene_variant BRCA-EU X 135748014 135748014 single base substitution G A 3_prime_UTR_variant BRCA-EU X 135748014 135748014 single base substitution G A downstream_gene_variant BRCA-EU X 135748263 135748263 single base substitution T C 3_prime_UTR_variant BRCA-EU X 135748263 135748263 single base substitution T C downstream_gene_variant BRCA-EU X 135749181 135749181 single base substitution T C 3_prime_UTR_variant BRCA-EU X 135749181 135749181 single base substitution T C downstream_gene_variant BRCA-EU X 135751571 135751571 single base substitution C T intron_variant BRCA-EU X 135753741 135753741 single base substitution A G intron_variant BRCA-EU X 135755832 135755832 single base substitution C T intron_variant BRCA-EU X 135756869 135756869 single base substitution G T intron_variant BRCA-EU X 135756900 135756900 single base substitution A T intron_variant BRCA-EU X 135757130 135757130 single base substitution G A intron_variant BRCA-EU X 135757510 135757510 insertion of <=200bp - G intron_variant BRCA-EU X 135758181 135758181 single base substitution A T intron_variant BRCA-EU X 135758454 135758454 single base substitution A T intron_variant BRCA-EU X 135758679 135758679 deletion of <=200bp A - intron_variant BRCA-EU X 135759058 135759058 single base substitution C T intron_variant BRCA-EU X 135759178 135759178 single base substitution G C intron_variant BRCA-EU X 135759864 135759864 insertion of <=200bp - A intron_variant BRCA-EU X 135761086 135761086 single base substitution C A intron_variant BRCA-EU X 135761438 135761438 single base substitution C A intron_variant BRCA-EU X 135761851 135761851 single base substitution C G intron_variant BRCA-EU X 135762933 135762933 single base substitution C G missense_variant S400T 1199G>C BRCA-EU X 135762933 135762933 single base substitution C G missense_variant S427T 1280G>C BRCA-EU X 135762933 135762933 single base substitution C G missense_variant S554T 1661G>C BRCA-EU X 135763262 135763262 single base substitution A G intron_variant BRCA-EU X 135763468 135763468 single base substitution A G intron_variant BRCA-EU X 135763586 135763586 single base substitution G T intron_variant BRCA-EU X 135763735 135763735 single base substitution C A intron_variant BRCA-EU X 135764268 135764268 single base substitution C T intron_variant BRCA-EU X 135765134 135765134 insertion of <=200bp - A intron_variant BRCA-EU X 135765259 135765259 single base substitution C T intron_variant BRCA-EU X 135765870 135765870 single base substitution G A intron_variant BRCA-EU X 135766226 135766226 single base substitution A G intron_variant BRCA-EU X 135767151 135767151 single base substitution A T intron_variant BRCA-EU X 135767589 135767589 single base substitution G C intron_variant BRCA-EU X 135769250 135769250 single base substitution A G intron_variant BRCA-EU X 135769653 135769653 single base substitution C T intron_variant BRCA-EU X 135769669 135769669 single base substitution G C intron_variant BRCA-EU X 135770056 135770056 deletion of <=200bp A - intron_variant BRCA-EU X 135770190 135770190 single base substitution G C intron_variant BRCA-EU X 135770889 135770889 single base substitution T C intron_variant BRCA-EU X 135771854 135771854 single base substitution C A intron_variant BRCA-EU X 135772146 135772146 single base substitution C T intron_variant BRCA-EU X 135773265 135773265 single base substitution G A intron_variant BRCA-EU X 135774037 135774037 single base substitution C G intron_variant BRCA-EU X 135777161 135777161 single base substitution A G intron_variant BRCA-EU X 135777407 135777407 single base substitution T A intron_variant BRCA-EU X 135778459 135778459 deletion of <=200bp A - intron_variant BRCA-EU X 135779506 135779506 single base substitution C T intron_variant BRCA-EU X 135780655 135780655 single base substitution A T intron_variant BRCA-EU X 135781229 135781229 single base substitution G C intron_variant BRCA-EU X 135782025 135782025 single base substitution C T intron_variant BRCA-EU X 135782741 135782741 deletion of <=200bp A - intron_variant BRCA-EU X 135783274 135783274 deletion of <=200bp A - intron_variant BRCA-EU X 135785425 135785425 single base substitution T G intron_variant BRCA-EU X 135785636 135785636 single base substitution G T intron_variant BRCA-EU X 135785705 135785705 single base substitution G C intron_variant BRCA-EU X 135786037 135786037 single base substitution G A intron_variant BRCA-EU X 135788913 135788913 single base substitution G A intron_variant BRCA-EU X 135790803 135790803 single base substitution G A intron_variant BRCA-EU X 135790857 135790857 single base substitution G A synonymous_variant C146C 438C>T BRCA-EU X 135790857 135790857 single base substitution G A synonymous_variant C173C 519C>T BRCA-EU X 135790857 135790857 single base substitution G A synonymous_variant C300C 900C>T BRCA-EU X 135791275 135791275 single base substitution G A intron_variant BRCA-EU X 135792787 135792787 single base substitution G A intron_variant BRCA-EU X 135793069 135793069 single base substitution C G intron_variant BRCA-EU X 135793792 135793792 insertion of <=200bp - GC intron_variant BRCA-EU X 135794148 135794148 single base substitution T A intron_variant BRCA-EU X 135794535 135794535 single base substitution G C intron_variant BRCA-EU X 135795680 135795680 single base substitution T A intron_variant BRCA-EU X 135795693 135795693 single base substitution G T intron_variant BRCA-EU X 135796381 135796381 single base substitution G A intron_variant BRCA-EU X 135797250 135797250 single base substitution G A intron_variant BRCA-EU X 135797288 135797288 single base substitution C T intron_variant BRCA-EU X 135797304 135797304 single base substitution T C intron_variant BRCA-EU X 135797460 135797460 single base substitution A G intron_variant BRCA-EU X 135801982 135801982 single base substitution C T intron_variant BRCA-EU X 135802677 135802677 deletion of <=200bp A - intron_variant BRCA-EU X 135803302 135803302 single base substitution T A intron_variant BRCA-EU X 135803617 135803617 single base substitution G C intron_variant BRCA-EU X 135804226 135804226 deletion of <=200bp A - intron_variant BRCA-EU X 135805477 135805477 single base substitution C T intron_variant BRCA-EU X 135807451 135807451 single base substitution T G intron_variant BRCA-EU X 135807532 135807532 single base substitution C A intron_variant BRCA-EU X 135807533 135807533 deletion of <=200bp A - intron_variant BRCA-EU X 135807812 135807812 single base substitution G C intron_variant BRCA-EU X 135808205 135808205 single base substitution T G intron_variant BRCA-EU X 135808651 135808651 single base substitution G T intron_variant BRCA-EU X 135808669 135808669 single base substitution A G intron_variant BRCA-EU X 135809041 135809041 single base substitution G T intron_variant BRCA-EU X 135809406 135809406 single base substitution G A intron_variant BRCA-EU X 135809877 135809877 single base substitution G C intron_variant BRCA-EU X 135810319 135810319 single base substitution G A intron_variant BRCA-EU X 135811099 135811099 single base substitution G C intron_variant BRCA-EU X 135811413 135811413 single base substitution G T intron_variant BRCA-EU X 135811965 135811965 single base substitution G T intron_variant BRCA-EU X 135812359 135812359 single base substitution G C intron_variant BRCA-EU X 135812748 135812748 deletion of <=200bp A - intron_variant BRCA-EU X 135813576 135813576 single base substitution T C intron_variant BRCA-EU X 135814043 135814043 single base substitution T A intron_variant BRCA-EU X 135814165 135814165 single base substitution C G intron_variant BRCA-EU X 135814337 135814337 deletion of <=200bp A - splice_region_variant BRCA-EU X 135814655 135814655 single base substitution A C intron_variant BRCA-EU X 135815280 135815280 single base substitution C A intron_variant BRCA-EU X 135815320 135815320 single base substitution C T intron_variant BRCA-EU X 135815337 135815337 single base substitution A T intron_variant BRCA-EU X 135815550 135815550 single base substitution T A intron_variant BRCA-EU X 135815747 135815747 single base substitution T G intron_variant BRCA-EU X 135816015 135816015 single base substitution C A intron_variant BRCA-EU X 135816535 135816535 single base substitution C T intron_variant BRCA-EU X 135817841 135817841 single base substitution G A intron_variant BRCA-EU X 135820113 135820113 single base substitution C T intron_variant BRCA-EU X 135821185 135821185 single base substitution G A intron_variant BRCA-EU X 135821313 135821313 single base substitution C A intron_variant BRCA-EU X 135821658 135821658 single base substitution C T intron_variant BRCA-EU X 135823071 135823071 single base substitution T C intron_variant BRCA-EU X 135823465 135823465 single base substitution G C intron_variant BRCA-EU X 135823865 135823865 single base substitution T A intron_variant BRCA-EU X 135824218 135824218 single base substitution G A intron_variant BRCA-EU X 135824564 135824564 single base substitution A G intron_variant BRCA-EU X 135825125 135825125 single base substitution T C intron_variant BRCA-EU X 135825212 135825212 deletion of <=200bp A - intron_variant BRCA-EU X 135825362 135825362 insertion of <=200bp - A intron_variant BRCA-EU X 135825734 135825734 single base substitution C T intron_variant BRCA-EU X 135827831 135827831 single base substitution G C intron_variant BRCA-EU X 135830138 135830138 single base substitution C T intron_variant BRCA-EU X 135830600 135830600 single base substitution A C intron_variant BRCA-EU X 135831077 135831077 single base substitution G A intron_variant BRCA-EU X 135831244 135831244 single base substitution G T intron_variant BRCA-EU X 135834506 135834506 single base substitution C G intron_variant BRCA-EU X 135835854 135835854 single base substitution G A intron_variant BRCA-EU X 135835882 135835882 single base substitution T C intron_variant BRCA-EU X 135836172 135836172 single base substitution G T intron_variant BRCA-EU X 135839700 135839700 single base substitution A G intron_variant BRCA-EU X 135840050 135840050 single base substitution G A intron_variant BRCA-EU X 135840445 135840445 single base substitution C T intron_variant BRCA-EU X 135841009 135841009 single base substitution C G intron_variant BRCA-EU X 135843625 135843634 deletion of <=200bp AACATATTTC - intron_variant BRCA-EU X 135844765 135844765 single base substitution C T intron_variant BRCA-EU X 135845202 135845202 single base substitution T A intron_variant BRCA-EU X 135845773 135845773 single base substitution C T intron_variant BRCA-EU X 135845967 135845967 single base substitution G C intron_variant BRCA-EU X 135846067 135846067 insertion of <=200bp - A intron_variant BRCA-EU X 135847358 135847358 single base substitution A G intron_variant BRCA-EU X 135847592 135847592 single base substitution T A intron_variant BRCA-EU X 135847853 135847853 single base substitution G A intron_variant BRCA-EU X 135850395 135850395 single base substitution G A intron_variant BRCA-EU X 135850395 135850395 single base substitution G A upstream_gene_variant BRCA-EU X 135850440 135850440 single base substitution G C intron_variant BRCA-EU X 135850440 135850440 single base substitution G C upstream_gene_variant BRCA-EU X 135851271 135851271 deletion of <=200bp A - intron_variant BRCA-EU X 135851271 135851271 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 135851432 135851432 single base substitution A C intron_variant BRCA-EU X 135851432 135851432 single base substitution A C upstream_gene_variant BRCA-EU X 135852749 135852749 single base substitution C A intron_variant BRCA-EU X 135852749 135852749 single base substitution C A upstream_gene_variant BRCA-EU X 135852909 135852909 single base substitution C T intron_variant BRCA-EU X 135852909 135852909 single base substitution C T upstream_gene_variant BRCA-EU X 135853225 135853225 deletion of <=200bp T - intron_variant BRCA-EU X 135853225 135853225 deletion of <=200bp T - upstream_gene_variant BRCA-EU X 135853321 135853321 single base substitution T C intron_variant BRCA-EU X 135853321 135853321 single base substitution T C upstream_gene_variant BRCA-EU X 135854155 135854155 single base substitution T A intron_variant BRCA-EU X 135854155 135854155 single base substitution T A upstream_gene_variant BRCA-EU X 135854462 135854462 deletion of <=200bp A - intron_variant BRCA-EU X 135854462 135854462 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 135854482 135854482 single base substitution A T intron_variant BRCA-EU X 135854482 135854482 single base substitution A T upstream_gene_variant BRCA-EU X 135854507 135854507 single base substitution G T intron_variant BRCA-EU X 135854507 135854507 single base substitution G T upstream_gene_variant BRCA-EU X 135855809 135855809 single base substitution C T intron_variant BRCA-EU X 135856195 135856195 single base substitution G A intron_variant BRCA-EU X 135857937 135857937 single base substitution G A intron_variant BRCA-EU X 135858445 135858445 single base substitution A G intron_variant BRCA-EU X 135860510 135860510 single base substitution A G intron_variant BRCA-EU X 135860993 135860993 single base substitution G A intron_variant BRCA-EU X 135861647 135861647 single base substitution C G missense_variant D59H 175G>C BRCA-EU X 135861919 135861919 single base substitution G A intron_variant BRCA-EU X 135862221 135862221 single base substitution A C intron_variant BRCA-EU X 135863220 135863220 single base substitution A G 5_prime_UTR_variant BRCA-EU X 135864713 135864717 deletion of <=200bp TTTTC - upstream_gene_variant BRCA-EU X 135864726 135864726 single base substitution G C upstream_gene_variant BRCA-EU X 135865127 135865127 single base substitution C T upstream_gene_variant BRCA-EU X 135865821 135865821 single base substitution T C upstream_gene_variant BRCA-EU X 135865839 135865839 single base substitution G T upstream_gene_variant BRCA-EU X 135867941 135867941 single base substitution C T upstream_gene_variant BRCA-EU X 135869210 135869210 single base substitution C G upstream_gene_variant BRCA-FR X 135748014 135748014 single base substitution G A 3_prime_UTR_variant BRCA-FR X 135748014 135748014 single base substitution G A downstream_gene_variant BRCA-FR X 135761438 135761438 single base substitution C A intron_variant BRCA-FR X 135761851 135761851 single base substitution C G intron_variant BRCA-FR X 135762933 135762933 single base substitution C G missense_variant S400T 1199G>C BRCA-FR X 135762933 135762933 single base substitution C G missense_variant S427T 1280G>C BRCA-FR X 135762933 135762933 single base substitution C G missense_variant S554T 1661G>C BRCA-FR X 135765259 135765259 single base substitution C T intron_variant BRCA-FR X 135767151 135767151 single base substitution A T intron_variant BRCA-FR X 135767230 135767230 single base substitution G C intron_variant BRCA-FR X 135785909 135785909 single base substitution G A intron_variant BRCA-FR X 135788913 135788913 single base substitution G A intron_variant BRCA-FR X 135789795 135789795 single base substitution G T intron_variant BRCA-FR X 135792787 135792787 single base substitution G A intron_variant BRCA-FR X 135798352 135798352 single base substitution G T intron_variant BRCA-FR X 135798640 135798640 single base substitution C A intron_variant BRCA-FR X 135803302 135803302 single base substitution T A intron_variant BRCA-FR X 135808651 135808651 single base substitution G T intron_variant BRCA-FR X 135808669 135808669 single base substitution A G intron_variant BRCA-FR X 135812472 135812472 single base substitution C T intron_variant BRCA-FR X 135817841 135817841 single base substitution G A intron_variant BRCA-FR X 135820100 135820100 single base substitution C T intron_variant BRCA-FR X 135823465 135823465 single base substitution G C intron_variant BRCA-FR X 135824218 135824218 single base substitution G A intron_variant BRCA-FR X 135830138 135830138 single base substitution C T intron_variant BRCA-FR X 135832600 135832600 single base substitution T A intron_variant BRCA-FR X 135834656 135834656 single base substitution C T intron_variant BRCA-FR X 135836441 135836441 single base substitution A T intron_variant BRCA-FR X 135839700 135839700 single base substitution A G intron_variant BRCA-FR X 135840050 135840050 single base substitution G A intron_variant BRCA-FR X 135845773 135845773 single base substitution C T intron_variant BRCA-FR X 135847358 135847358 single base substitution A G intron_variant BRCA-FR X 135849327 135849327 single base substitution C A 5_prime_UTR_variant BRCA-FR X 135849327 135849327 single base substitution C A intron_variant BRCA-FR X 135861415 135861415 single base substitution G C intron_variant BRCA-FR X 135861919 135861919 single base substitution G A intron_variant BRCA-FR X 135867590 135867590 single base substitution T G upstream_gene_variant BRCA-FR X 135867774 135867774 single base substitution A G upstream_gene_variant BRCA-FR X 135867971 135867971 single base substitution T C upstream_gene_variant BRCA-UK X 135752819 135752819 single base substitution C T intron_variant BRCA-UK X 135758454 135758454 single base substitution A T intron_variant BRCA-UK X 135759058 135759058 single base substitution C T intron_variant BRCA-UK X 135764268 135764268 single base substitution C T intron_variant BRCA-UK X 135773265 135773265 single base substitution G A intron_variant BRCA-UK X 135779009 135779009 single base substitution C G intron_variant BRCA-UK X 135785705 135785705 single base substitution G C intron_variant BRCA-UK X 135815289 135815289 single base substitution T A intron_variant BRCA-UK X 135824682 135824682 single base substitution G A intron_variant BRCA-UK X 135825734 135825734 single base substitution C T intron_variant BRCA-UK X 135841009 135841009 single base substitution C G intron_variant BRCA-UK X 135865587 135865587 single base substitution C T upstream_gene_variant BRCA-US X 135750295 135750295 single base substitution C T missense_variant E588K 1762G>A BRCA-US X 135750295 135750295 single base substitution C T missense_variant E615K 1843G>A BRCA-US X 135750295 135750295 single base substitution C T missense_variant E742K 2224G>A BRCA-US X 135761740 135761740 single base substitution C T missense_variant R441Q 1322G>A BRCA-US X 135761740 135761740 single base substitution C T missense_variant R468Q 1403G>A BRCA-US X 135761740 135761740 single base substitution C T missense_variant R595Q 1784G>A BRCA-US X 135764932 135764932 single base substitution A T missense_variant S334R 1002T>A BRCA-US X 135764932 135764932 single base substitution A T missense_variant S361R 1083T>A BRCA-US X 135764932 135764932 single base substitution A T missense_variant S488R 1464T>A BRCA-US X 135767916 135767916 single base substitution C G missense_variant A284P 850G>C BRCA-US X 135767916 135767916 single base substitution C G missense_variant A311P 931G>C BRCA-US X 135767916 135767916 single base substitution C G missense_variant A438P 1312G>C BRCA-US X 135767928 135767928 single base substitution C T missense_variant E280K 838G>A BRCA-US X 135767928 135767928 single base substitution C T missense_variant E307K 919G>A BRCA-US X 135767928 135767928 single base substitution C T missense_variant E434K 1300G>A BRCA-US X 135772826 135772826 single base substitution T C synonymous_variant P222P 666A>G BRCA-US X 135772826 135772826 single base substitution T C synonymous_variant P249P 747A>G BRCA-US X 135772826 135772826 single base substitution T C synonymous_variant P376P 1128A>G BRCA-US X 135827435 135827435 single base substitution G C 5_prime_UTR_variant BRCA-US X 135827435 135827435 single base substitution G C missense_variant Q136E 406C>G BTCA-JP X 135750277 135750277 single base substitution C T missense_variant D594N 1780G>A BTCA-JP X 135750277 135750277 single base substitution C T missense_variant D621N 1861G>A BTCA-JP X 135750277 135750277 single base substitution C T missense_variant D748N 2242G>A BTCA-JP X 135754266 135754266 single base substitution T A missense_variant D529V 1586A>T BTCA-JP X 135754266 135754266 single base substitution T A missense_variant D556V 1667A>T BTCA-JP X 135754266 135754266 single base substitution T A missense_variant D683V 2048A>T BTCA-JP X 135760007 135760007 single base substitution A C intron_variant BTCA-JP X 135770282 135770282 single base substitution A G intron_variant BTCA-JP X 135861430 135861430 single base substitution C A intron_variant BTCA-JP X 135861509 135861509 single base substitution A G intron_variant BTCA-JP X 135861530 135861530 deletion of <=200bp A - intron_variant CESC-US X 135762923 135762923 single base substitution G T synonymous_variant S403S 1209C>A CESC-US X 135762923 135762923 single base substitution G T synonymous_variant S430S 1290C>A CESC-US X 135762923 135762923 single base substitution G T synonymous_variant S557S 1671C>A CESC-US X 135763011 135763011 single base substitution A G missense_variant V374A 1121T>C CESC-US X 135763011 135763011 single base substitution A G missense_variant V401A 1202T>C CESC-US X 135763011 135763011 single base substitution A G missense_variant V528A 1583T>C CESC-US X 135763034 135763034 single base substitution A G splice_region_variant CLLE-ES X 135749096 135749096 single base substitution A T 3_prime_UTR_variant CLLE-ES X 135749096 135749096 single base substitution A T downstream_gene_variant CLLE-ES X 135749401 135749401 single base substitution G A 3_prime_UTR_variant CLLE-ES X 135749401 135749401 single base substitution G A downstream_gene_variant CLLE-ES X 135793672 135793672 single base substitution C T intron_variant CLLE-ES X 135802778 135802778 single base substitution T C intron_variant COAD-US X 135750225 135750225 single base substitution C T missense_variant R611Q 1832G>A COAD-US X 135750225 135750225 single base substitution C T missense_variant R638Q 1913G>A COAD-US X 135750225 135750225 single base substitution C T missense_variant R765Q 2294G>A COAD-US X 135758845 135758845 single base substitution T G missense_variant K474T 1421A>C COAD-US X 135758845 135758845 single base substitution T G missense_variant K501T 1502A>C COAD-US X 135758845 135758845 single base substitution T G missense_variant K628T 1883A>C COAD-US X 135761808 135761808 single base substitution A C synonymous_variant S418S 1254T>G COAD-US X 135761808 135761808 single base substitution A C synonymous_variant S445S 1335T>G COAD-US X 135761808 135761808 single base substitution A C synonymous_variant S572S 1716T>G COAD-US X 135764064 135764064 single base substitution T G missense_variant T361P 1081A>C COAD-US X 135764064 135764064 single base substitution T G missense_variant T388P 1162A>C COAD-US X 135764064 135764064 single base substitution T G missense_variant T515P 1543A>C COAD-US X 135767979 135767979 single base substitution G A stop_gained Q263* 787C>T COAD-US X 135767979 135767979 single base substitution G A stop_gained Q290* 868C>T COAD-US X 135767979 135767979 single base substitution G A stop_gained Q417* 1249C>T COAD-US X 135770100 135770100 single base substitution T G missense_variant K258N 774A>C COAD-US X 135770100 135770100 single base substitution T G missense_variant K285N 855A>C COAD-US X 135770100 135770100 single base substitution T G missense_variant K412N 1236A>C COAD-US X 135790921 135790921 single base substitution G T missense_variant T125N 374C>A COAD-US X 135790921 135790921 single base substitution G T missense_variant T152N 455C>A COAD-US X 135790921 135790921 single base substitution G T missense_variant T279N 836C>A COAD-US X 135795515 135795515 single base substitution G A synonymous_variant I122I 366C>T COAD-US X 135795515 135795515 single base substitution G A synonymous_variant I249I 747C>T COAD-US X 135795515 135795515 single base substitution G A synonymous_variant I95I 285C>T COAD-US X 135829721 135829721 single base substitution C T 5_prime_UTR_variant COAD-US X 135829721 135829721 single base substitution C T missense_variant V94I 280G>A COAD-US X 135862962 135862962 single base substitution G A missense_variant P27L 80C>T COCA-CN X 135751674 135751674 single base substitution G A synonymous_variant Y565Y 1695C>T COCA-CN X 135751674 135751674 single base substitution G A synonymous_variant Y592Y 1776C>T COCA-CN X 135751674 135751674 single base substitution G A synonymous_variant Y719Y 2157C>T COCA-CN X 135758962 135758962 single base substitution C T intron_variant COCA-CN X 135761804 135761804 single base substitution C T missense_variant G420R 1258G>A COCA-CN X 135761804 135761804 single base substitution C T missense_variant G447R 1339G>A COCA-CN X 135761804 135761804 single base substitution C T missense_variant G574R 1720G>A COCA-CN X 135763083 135763083 single base substitution A C intron_variant COCA-CN X 135764050 135764050 single base substitution A G splice_region_variant COCA-CN X 135764069 135764069 single base substitution T C missense_variant D359G 1076A>G COCA-CN X 135764069 135764069 single base substitution T C missense_variant D386G 1157A>G COCA-CN X 135764069 135764069 single base substitution T C missense_variant D513G 1538A>G COCA-CN X 135764746 135764746 single base substitution C A intron_variant COCA-CN X 135767806 135767806 single base substitution G A intron_variant COCA-CN X 135772969 135772969 single base substitution C A intron_variant COCA-CN X 135789127 135789127 single base substitution G T missense_variant S175Y 524C>A COCA-CN X 135789127 135789127 single base substitution G T missense_variant S202Y 605C>A COCA-CN X 135789127 135789127 single base substitution G T missense_variant S329Y 986C>A COCA-CN X 135790866 135790866 single base substitution C T synonymous_variant Q143Q 429G>A COCA-CN X 135790866 135790866 single base substitution C T synonymous_variant Q170Q 510G>A COCA-CN X 135790866 135790866 single base substitution C T synonymous_variant Q297Q 891G>A COCA-CN X 135823698 135823698 single base substitution G T intron_variant COCA-CN X 135862962 135862962 single base substitution G A missense_variant P27L 80C>T EOPC-DE X 135751426 135751426 single base substitution T C intron_variant EOPC-DE X 135775129 135775129 single base substitution A T intron_variant ESCA-CN X 135750201 135750201 single base substitution G C stop_gained S619* 1856C>G ESCA-CN X 135750201 135750201 single base substitution G C stop_gained S646* 1937C>G ESCA-CN X 135750201 135750201 single base substitution G C stop_gained S773* 2318C>G ESCA-CN X 135758853 135758853 single base substitution C A synonymous_variant T471T 1413G>T ESCA-CN X 135758853 135758853 single base substitution C A synonymous_variant T498T 1494G>T ESCA-CN X 135758853 135758853 single base substitution C A synonymous_variant T625T 1875G>T ESCA-CN X 135764966 135764966 single base substitution A G missense_variant V323A 968T>C ESCA-CN X 135764966 135764966 single base substitution A G missense_variant V350A 1049T>C ESCA-CN X 135764966 135764966 single base substitution A G missense_variant V477A 1430T>C ESCA-CN X 135765015 135765015 single base substitution T C intron_variant GBM-US X 135754253 135754253 single base substitution T A missense_variant Q533H 1599A>T GBM-US X 135754253 135754253 single base substitution T A missense_variant Q560H 1680A>T GBM-US X 135754253 135754253 single base substitution T A missense_variant Q687H 2061A>T GBM-US X 135825762 135825762 single base substitution G A missense_variant R215C 643C>T GBM-US X 135825762 135825762 single base substitution G A missense_variant R61C 181C>T KIRC-US X 135829736 135829736 single base substitution C T 5_prime_UTR_variant KIRC-US X 135829736 135829736 single base substitution C T missense_variant D89N 265G>A KIRP-US X 135754263 135754263 single base substitution G C missense_variant S530C 1589C>G KIRP-US X 135754263 135754263 single base substitution G C missense_variant S557C 1670C>G KIRP-US X 135754263 135754263 single base substitution G C missense_variant S684C 2051C>G KIRP-US X 135825892 135825892 single base substitution A T missense_variant F171L 513T>A KIRP-US X 135825892 135825892 single base substitution A T missense_variant F17L 51T>A LAML-KR X 135811624 135811624 single base substitution C G intron_variant LGG-US X 135825810 135825810 single base substitution C A stop_gained E199* 595G>T LGG-US X 135825810 135825810 single base substitution C A stop_gained E45* 133G>T LGG-US X 135862897 135862897 single base substitution T A missense_variant M49L 145A>T LICA-FR X 135750279 135750279 single base substitution C A missense_variant R593M 1778G>T LICA-FR X 135750279 135750279 single base substitution C A missense_variant R620M 1859G>T LICA-FR X 135750279 135750279 single base substitution C A missense_variant R747M 2240G>T LICA-FR X 135750689 135750689 single base substitution C A intron_variant LICA-FR X 135761799 135761799 single base substitution C T synonymous_variant Q421Q 1263G>A LICA-FR X 135761799 135761799 single base substitution C T synonymous_variant Q448Q 1344G>A LICA-FR X 135761799 135761799 single base substitution C T synonymous_variant Q575Q 1725G>A LICA-FR X 135764407 135764407 single base substitution A G intron_variant LICA-FR X 135764990 135764990 single base substitution C T missense_variant R315Q 944G>A LICA-FR X 135764990 135764990 single base substitution C T missense_variant R342Q 1025G>A LICA-FR X 135764990 135764990 single base substitution C T missense_variant R469Q 1406G>A LICA-FR X 135777511 135777511 single base substitution C A intron_variant LICA-FR X 135778974 135778974 single base substitution A G intron_variant LICA-FR X 135808267 135808267 single base substitution T A intron_variant LICA-FR X 135815289 135815289 single base substitution T A intron_variant LICA-FR X 135825937 135825937 single base substitution C T synonymous_variant T156T 468G>A LICA-FR X 135825937 135825937 single base substitution C T synonymous_variant T2T 6G>A LICA-FR X 135854900 135854900 single base substitution T C intron_variant LICA-FR X 135854900 135854900 single base substitution T C upstream_gene_variant LICA-FR X 135864481 135864481 single base substitution G A upstream_gene_variant LIHC-US X 135757211 135757211 single base substitution C G missense_variant E510Q 1528G>C LIHC-US X 135757211 135757211 single base substitution C G missense_variant E537Q 1609G>C LIHC-US X 135757211 135757211 single base substitution C G missense_variant E664Q 1990G>C LIHC-US X 135767930 135767930 single base substitution G C missense_variant S279C 836C>G LIHC-US X 135767930 135767930 single base substitution G C missense_variant S306C 917C>G LIHC-US X 135767930 135767930 single base substitution G C missense_variant S433C 1298C>G LIHC-US X 135863020 135863020 single base substitution C T missense_variant V8M 22G>A LINC-JP X 135761790 135761790 single base substitution T C synonymous_variant G424G 1272A>G LINC-JP X 135761790 135761790 single base substitution T C synonymous_variant G451G 1353A>G LINC-JP X 135761790 135761790 single base substitution T C synonymous_variant G578G 1734A>G LINC-JP X 135763355 135763355 single base substitution A G intron_variant LINC-JP X 135765581 135765581 single base substitution G A intron_variant LINC-JP X 135767868 135767868 single base substitution A G missense_variant S300P 898T>C LINC-JP X 135767868 135767868 single base substitution A G missense_variant S327P 979T>C LINC-JP X 135767868 135767868 single base substitution A G missense_variant S454P 1360T>C LINC-JP X 135770050 135770050 single base substitution G T intron_variant LINC-JP X 135810492 135810492 single base substitution T G intron_variant LINC-JP X 135818810 135818810 single base substitution T G intron_variant LINC-JP X 135827380 135827380 insertion of <=200bp - A splice_donor_variant LINC-JP X 135838983 135838983 single base substitution G T intron_variant LINC-JP X 135841704 135841704 single base substitution G A intron_variant LINC-JP X 135856505 135856505 deletion of <=200bp A - intron_variant LINC-JP X 135867716 135867716 single base substitution C T upstream_gene_variant LIRI-JP X 135750689 135750689 single base substitution C A intron_variant LIRI-JP X 135756389 135756389 single base substitution G C intron_variant LIRI-JP X 135757062 135757086 deletion of <=200bp CACACCCTGCAACCCATCCGGGTTG - intron_variant LIRI-JP X 135758198 135758198 single base substitution A G intron_variant LIRI-JP X 135758714 135758714 single base substitution C A intron_variant LIRI-JP X 135760332 135760332 single base substitution C T intron_variant LIRI-JP X 135761839 135761839 single base substitution G A intron_variant LIRI-JP X 135765792 135765792 single base substitution G A intron_variant LIRI-JP X 135769055 135769055 single base substitution C G intron_variant LIRI-JP X 135771481 135771481 single base substitution G A intron_variant LIRI-JP X 135772437 135772437 single base substitution G A intron_variant LIRI-JP X 135776071 135776071 single base substitution T G intron_variant LIRI-JP X 135776233 135776233 single base substitution A G intron_variant LIRI-JP X 135779473 135779473 single base substitution T C intron_variant LIRI-JP X 135780205 135780205 single base substitution G A intron_variant LIRI-JP X 135780384 135780384 single base substitution A T intron_variant LIRI-JP X 135784598 135784598 single base substitution A C intron_variant LIRI-JP X 135784610 135784610 single base substitution T C intron_variant LIRI-JP X 135785624 135785624 single base substitution C T intron_variant LIRI-JP X 135786041 135786041 single base substitution A G intron_variant LIRI-JP X 135786208 135786208 single base substitution T C intron_variant LIRI-JP X 135786512 135786512 single base substitution T A intron_variant LIRI-JP X 135790836 135790836 single base substitution T A splice_region_variant LIRI-JP X 135796138 135796138 single base substitution A T intron_variant LIRI-JP X 135796838 135796838 deletion of <=200bp G - intron_variant LIRI-JP X 135797562 135797562 single base substitution T C intron_variant LIRI-JP X 135800953 135800953 single base substitution C A intron_variant LIRI-JP X 135801321 135801321 single base substitution C T intron_variant LIRI-JP X 135801592 135801592 single base substitution G A intron_variant LIRI-JP X 135801649 135801649 single base substitution C T intron_variant LIRI-JP X 135802149 135802149 single base substitution G A intron_variant LIRI-JP X 135802544 135802544 single base substitution C T intron_variant LIRI-JP X 135805339 135805339 single base substitution A T intron_variant LIRI-JP X 135808187 135808187 single base substitution G T intron_variant LIRI-JP X 135814318 135814318 single base substitution G A synonymous_variant S225S 675C>T LIRI-JP X 135814318 135814318 single base substitution G A synonymous_variant S71S 213C>T LIRI-JP X 135814318 135814318 single base substitution G A synonymous_variant S98S 294C>T LIRI-JP X 135814678 135814678 single base substitution C T intron_variant LIRI-JP X 135816355 135816355 single base substitution G A intron_variant LIRI-JP X 135816967 135816967 single base substitution T C intron_variant LIRI-JP X 135818848 135818848 single base substitution A C intron_variant LIRI-JP X 135820229 135820229 single base substitution T C intron_variant LIRI-JP X 135821127 135821127 single base substitution A G intron_variant LIRI-JP X 135821795 135821795 single base substitution A G intron_variant LIRI-JP X 135826230 135826230 single base substitution T C intron_variant LIRI-JP X 135826711 135826711 single base substitution T C intron_variant LIRI-JP X 135830275 135830275 single base substitution C T intron_variant LIRI-JP X 135832347 135832348 deletion of <=200bp TA - intron_variant LIRI-JP X 135836220 135836220 single base substitution T A intron_variant LIRI-JP X 135839451 135839451 single base substitution G A intron_variant LIRI-JP X 135841095 135841095 single base substitution C A intron_variant LIRI-JP X 135841602 135841602 single base substitution C T intron_variant LIRI-JP X 135843507 135843507 single base substitution C A intron_variant LIRI-JP X 135845480 135845480 single base substitution G T intron_variant LIRI-JP X 135851852 135851852 single base substitution C A intron_variant LIRI-JP X 135851852 135851852 single base substitution C A upstream_gene_variant LIRI-JP X 135852780 135852780 single base substitution G C intron_variant LIRI-JP X 135852780 135852780 single base substitution G C upstream_gene_variant LIRI-JP X 135852954 135852954 single base substitution G A intron_variant LIRI-JP X 135852954 135852954 single base substitution G A upstream_gene_variant LIRI-JP X 135857034 135857034 single base substitution G T intron_variant LIRI-JP X 135857476 135857476 single base substitution A T intron_variant LIRI-JP X 135858419 135858419 single base substitution T C intron_variant LIRI-JP X 135858433 135858433 single base substitution T C intron_variant LIRI-JP X 135861074 135861074 single base substitution A G intron_variant LIRI-JP X 135862272 135862281 deletion of <=200bp ATTTCCAGCT - intron_variant LIRI-JP X 135862375 135862375 single base substitution T C intron_variant LIRI-JP X 135867425 135867425 single base substitution A G upstream_gene_variant LIRI-JP X 135868927 135868927 single base substitution G A upstream_gene_variant LUSC-KR X 135747315 135747315 single base substitution C T downstream_gene_variant LUSC-KR X 135753869 135753869 single base substitution T A intron_variant LUSC-KR X 135754454 135754454 single base substitution G C intron_variant LUSC-KR X 135764304 135764304 single base substitution G T intron_variant LUSC-KR X 135765147 135765147 single base substitution A T intron_variant LUSC-KR X 135776722 135776722 single base substitution A G intron_variant LUSC-KR X 135779329 135779329 single base substitution G A intron_variant LUSC-KR X 135784011 135784011 single base substitution C A intron_variant LUSC-KR X 135784092 135784092 single base substitution T A intron_variant LUSC-KR X 135787660 135787660 single base substitution T C intron_variant LUSC-KR X 135788428 135788428 single base substitution C T intron_variant LUSC-KR X 135791338 135791338 single base substitution G A intron_variant LUSC-KR X 135794261 135794261 single base substitution T C intron_variant LUSC-KR X 135801656 135801656 single base substitution C A intron_variant LUSC-KR X 135802273 135802273 single base substitution G C intron_variant LUSC-KR X 135806341 135806341 single base substitution T A intron_variant LUSC-KR X 135809488 135809488 single base substitution C T intron_variant LUSC-KR X 135820382 135820382 single base substitution T A intron_variant LUSC-KR X 135823731 135823731 single base substitution T G intron_variant LUSC-KR X 135830270 135830270 single base substitution T A intron_variant LUSC-KR X 135834269 135834269 single base substitution G A intron_variant LUSC-KR X 135836503 135836503 single base substitution G C intron_variant LUSC-KR X 135838709 135838709 single base substitution C A intron_variant LUSC-KR X 135839644 135839644 single base substitution C G intron_variant LUSC-KR X 135852617 135852617 single base substitution C A intron_variant LUSC-KR X 135852617 135852617 single base substitution C A upstream_gene_variant LUSC-KR X 135858235 135858235 single base substitution G T intron_variant LUSC-KR X 135861034 135861034 single base substitution C A intron_variant LUSC-KR X 135863366 135863366 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR X 135868850 135868850 single base substitution C T upstream_gene_variant LUSC-US X 135758808 135758808 single base substitution C T synonymous_variant S486S 1458G>A LUSC-US X 135758808 135758808 single base substitution C T synonymous_variant S513S 1539G>A LUSC-US X 135758808 135758808 single base substitution C T synonymous_variant S640S 1920G>A LUSC-US X 135795454 135795454 single base substitution G T missense_variant P116T 346C>A LUSC-US X 135795454 135795454 single base substitution G T missense_variant P143T 427C>A LUSC-US X 135795454 135795454 single base substitution G T missense_variant P270T 808C>A LUSC-US X 135825761 135825761 single base substitution C T missense_variant R215H 644G>A LUSC-US X 135825761 135825761 single base substitution C T missense_variant R61H 182G>A MALY-DE X 135755124 135755124 single base substitution G T intron_variant MALY-DE X 135759973 135759973 single base substitution C A intron_variant MALY-DE X 135766179 135766179 single base substitution A G intron_variant MALY-DE X 135767113 135767113 single base substitution G A intron_variant MALY-DE X 135769278 135769278 single base substitution A C intron_variant MALY-DE X 135771461 135771461 single base substitution C A intron_variant MALY-DE X 135774941 135774941 single base substitution C G intron_variant MALY-DE X 135778259 135778259 single base substitution G T intron_variant MALY-DE X 135780278 135780278 single base substitution G T intron_variant MALY-DE X 135783287 135783287 single base substitution C A intron_variant MALY-DE X 135789198 135789198 single base substitution A C intron_variant MALY-DE X 135798747 135798747 insertion of <=200bp - A intron_variant MALY-DE X 135799867 135799867 single base substitution G C intron_variant MALY-DE X 135809501 135809501 insertion of <=200bp - TT intron_variant MALY-DE X 135810730 135810730 single base substitution T G intron_variant MALY-DE X 135812241 135812241 single base substitution A T intron_variant MALY-DE X 135812790 135812790 single base substitution T A intron_variant MALY-DE X 135814174 135814174 single base substitution G T intron_variant MALY-DE X 135818523 135818523 single base substitution T G intron_variant MALY-DE X 135818778 135818779 deletion of <=200bp GT - intron_variant MALY-DE X 135818778 135818781 deletion of <=200bp GTGT - intron_variant MALY-DE X 135820068 135820068 single base substitution T G intron_variant MALY-DE X 135823696 135823696 single base substitution T G intron_variant MALY-DE X 135825086 135825086 single base substitution A G intron_variant MALY-DE X 135830131 135830131 single base substitution A G intron_variant MALY-DE X 135834689 135834689 single base substitution A G intron_variant MALY-DE X 135840651 135840651 single base substitution A G intron_variant MALY-DE X 135840781 135840781 single base substitution C A intron_variant MALY-DE X 135841016 135841016 single base substitution A G intron_variant MALY-DE X 135846011 135846011 single base substitution A G intron_variant MALY-DE X 135847563 135847564 deletion of <=200bp AG - intron_variant MALY-DE X 135848323 135848323 single base substitution C T intron_variant MALY-DE X 135851101 135851101 single base substitution C A intron_variant MALY-DE X 135851101 135851101 single base substitution C A upstream_gene_variant MALY-DE X 135852157 135852157 single base substitution G A intron_variant MALY-DE X 135852157 135852157 single base substitution G A upstream_gene_variant MALY-DE X 135853998 135853998 single base substitution C T intron_variant MALY-DE X 135853998 135853998 single base substitution C T upstream_gene_variant MALY-DE X 135862596 135862596 single base substitution T A intron_variant MELA-AU X 135742860 135742860 single base substitution G A downstream_gene_variant MELA-AU X 135743433 135743433 single base substitution A C downstream_gene_variant MELA-AU X 135743583 135743583 single base substitution C T downstream_gene_variant MELA-AU X 135744167 135744167 single base substitution A T downstream_gene_variant MELA-AU X 135744280 135744280 single base substitution G A downstream_gene_variant MELA-AU X 135744575 135744575 single base substitution A G downstream_gene_variant MELA-AU X 135745391 135745391 single base substitution A T downstream_gene_variant MELA-AU X 135745424 135745424 single base substitution G A downstream_gene_variant MELA-AU X 135745498 135745498 single base substitution G A downstream_gene_variant MELA-AU X 135746285 135746285 single base substitution G A downstream_gene_variant MELA-AU X 135747632 135747632 single base substitution G A downstream_gene_variant MELA-AU X 135747875 135747875 single base substitution C T 3_prime_UTR_variant MELA-AU X 135747875 135747875 single base substitution C T downstream_gene_variant MELA-AU X 135748132 135748132 single base substitution C T 3_prime_UTR_variant MELA-AU X 135748132 135748132 single base substitution C T downstream_gene_variant MELA-AU X 135748823 135748823 single base substitution G A 3_prime_UTR_variant MELA-AU X 135748823 135748823 single base substitution G A downstream_gene_variant MELA-AU X 135748827 135748827 single base substitution G A 3_prime_UTR_variant MELA-AU X 135748827 135748827 single base substitution G A downstream_gene_variant MELA-AU X 135749147 135749147 single base substitution G A 3_prime_UTR_variant MELA-AU X 135749147 135749147 single base substitution G A downstream_gene_variant MELA-AU X 135749323 135749323 deletion of <=200bp A - 3_prime_UTR_variant MELA-AU X 135749323 135749323 deletion of <=200bp A - downstream_gene_variant MELA-AU X 135749408 135749408 single base substitution C T 3_prime_UTR_variant MELA-AU X 135749408 135749408 single base substitution C T downstream_gene_variant MELA-AU X 135750343 135750343 single base substitution G A intron_variant MELA-AU X 135750698 135750698 single base substitution A C intron_variant MELA-AU X 135750727 135750727 single base substitution G A intron_variant MELA-AU X 135751382 135751382 single base substitution G A intron_variant MELA-AU X 135751929 135751929 single base substitution C T intron_variant MELA-AU X 135752399 135752399 single base substitution A G intron_variant MELA-AU X 135752496 135752496 single base substitution G A intron_variant MELA-AU X 135752542 135752542 single base substitution C T intron_variant MELA-AU X 135753053 135753053 single base substitution G A intron_variant MELA-AU X 135754069 135754069 single base substitution G A intron_variant MELA-AU X 135754574 135754574 single base substitution C T intron_variant MELA-AU X 135754906 135754906 single base substitution G A intron_variant MELA-AU X 135755736 135755736 single base substitution G T intron_variant MELA-AU X 135755886 135755886 single base substitution G A intron_variant MELA-AU X 135756513 135756513 single base substitution G A intron_variant MELA-AU X 135756827 135756827 single base substitution G A intron_variant MELA-AU X 135756887 135756887 single base substitution G A intron_variant MELA-AU X 135757122 135757122 single base substitution G A intron_variant MELA-AU X 135757400 135757400 single base substitution G A intron_variant MELA-AU X 135757597 135757597 single base substitution C T intron_variant MELA-AU X 135757777 135757777 single base substitution C T intron_variant MELA-AU X 135757784 135757784 single base substitution C T intron_variant MELA-AU X 135758548 135758548 single base substitution A T intron_variant MELA-AU X 135759849 135759849 single base substitution G A intron_variant MELA-AU X 135760172 135760172 single base substitution G A intron_variant MELA-AU X 135760450 135760450 single base substitution C T intron_variant MELA-AU X 135760787 135760787 single base substitution G A intron_variant MELA-AU X 135762099 135762099 single base substitution G A intron_variant MELA-AU X 135762105 135762105 single base substitution G A intron_variant MELA-AU X 135762988 135762988 single base substitution A G missense_variant F382L 1144T>C MELA-AU X 135762988 135762988 single base substitution A G missense_variant F409L 1225T>C MELA-AU X 135762988 135762988 single base substitution A G missense_variant F536L 1606T>C MELA-AU X 135763158 135763158 single base substitution C T intron_variant MELA-AU X 135763384 135763384 single base substitution G A intron_variant MELA-AU X 135763457 135763457 single base substitution C T intron_variant MELA-AU X 135763461 135763461 single base substitution G A intron_variant MELA-AU X 135763712 135763712 single base substitution C T intron_variant MELA-AU X 135763786 135763786 single base substitution C T intron_variant MELA-AU X 135763863 135763863 single base substitution G A intron_variant MELA-AU X 135763993 135763993 single base substitution C T intron_variant MELA-AU X 135763993 135763994 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 135764028 135764028 single base substitution G A intron_variant MELA-AU X 135764258 135764258 single base substitution A G intron_variant MELA-AU X 135764438 135764438 single base substitution A G intron_variant MELA-AU X 135764769 135764769 single base substitution C T intron_variant MELA-AU X 135765352 135765352 single base substitution G A intron_variant MELA-AU X 135765608 135765609 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 135766348 135766348 single base substitution C T intron_variant MELA-AU X 135766363 135766363 single base substitution G A intron_variant MELA-AU X 135766458 135766458 single base substitution G A intron_variant MELA-AU X 135766459 135766459 single base substitution G A intron_variant MELA-AU X 135767693 135767693 single base substitution G A intron_variant MELA-AU X 135768008 135768008 single base substitution G A intron_variant MELA-AU X 135768499 135768499 single base substitution G A intron_variant MELA-AU X 135768665 135768665 single base substitution G A intron_variant MELA-AU X 135768823 135768823 single base substitution G A intron_variant MELA-AU X 135769069 135769069 single base substitution G A intron_variant MELA-AU X 135769135 135769135 single base substitution C T intron_variant MELA-AU X 135769623 135769623 single base substitution G A intron_variant MELA-AU X 135771486 135771486 single base substitution A G intron_variant MELA-AU X 135771614 135771614 single base substitution C T intron_variant MELA-AU X 135772635 135772635 single base substitution G A intron_variant MELA-AU X 135773225 135773225 single base substitution A T intron_variant MELA-AU X 135773609 135773609 single base substitution T A intron_variant MELA-AU X 135774037 135774037 single base substitution C T intron_variant MELA-AU X 135774108 135774108 single base substitution A G intron_variant MELA-AU X 135774352 135774352 single base substitution C T intron_variant MELA-AU X 135774508 135774508 single base substitution C T intron_variant MELA-AU X 135774509 135774509 single base substitution C T intron_variant MELA-AU X 135774918 135774918 single base substitution C T intron_variant MELA-AU X 135775160 135775160 single base substitution G A intron_variant MELA-AU X 135776698 135776698 single base substitution G A intron_variant MELA-AU X 135776833 135776833 single base substitution G A intron_variant MELA-AU X 135776846 135776846 single base substitution G A intron_variant MELA-AU X 135777177 135777177 single base substitution A C intron_variant MELA-AU X 135777623 135777623 single base substitution T C intron_variant MELA-AU X 135777811 135777811 single base substitution G A intron_variant MELA-AU X 135777977 135777977 single base substitution G A intron_variant MELA-AU X 135778259 135778259 single base substitution G A intron_variant MELA-AU X 135778411 135778411 single base substitution C A intron_variant MELA-AU X 135778617 135778617 deletion of <=200bp T - intron_variant MELA-AU X 135778884 135778884 single base substitution C T intron_variant MELA-AU X 135778935 135778935 single base substitution C T intron_variant MELA-AU X 135779056 135779056 single base substitution G A intron_variant MELA-AU X 135780005 135780005 single base substitution T C intron_variant MELA-AU X 135780125 135780125 single base substitution A G intron_variant MELA-AU X 135780211 135780211 single base substitution G A intron_variant MELA-AU X 135780408 135780408 single base substitution A G intron_variant MELA-AU X 135780801 135780801 single base substitution G A intron_variant MELA-AU X 135781143 135781143 single base substitution G A intron_variant MELA-AU X 135781395 135781395 single base substitution G A intron_variant MELA-AU X 135782224 135782224 single base substitution G A intron_variant MELA-AU X 135782408 135782408 single base substitution C T intron_variant MELA-AU X 135782540 135782540 single base substitution G A intron_variant MELA-AU X 135782662 135782662 single base substitution G A intron_variant MELA-AU X 135782839 135782839 single base substitution A G intron_variant MELA-AU X 135782949 135782949 single base substitution A C intron_variant MELA-AU X 135783260 135783260 single base substitution G A intron_variant MELA-AU X 135784134 135784134 single base substitution G A intron_variant MELA-AU X 135784850 135784850 single base substitution C T intron_variant MELA-AU X 135786091 135786091 single base substitution G A intron_variant MELA-AU X 135786683 135786683 single base substitution G A intron_variant MELA-AU X 135786874 135786874 single base substitution G A intron_variant MELA-AU X 135786949 135786949 single base substitution G A intron_variant MELA-AU X 135787880 135787880 single base substitution C T intron_variant MELA-AU X 135788561 135788561 single base substitution G A intron_variant MELA-AU X 135788823 135788823 single base substitution G A intron_variant MELA-AU X 135788952 135788952 single base substitution C T intron_variant MELA-AU X 135789784 135789784 single base substitution G A intron_variant MELA-AU X 135789982 135789982 single base substitution G A intron_variant MELA-AU X 135790664 135790664 single base substitution G A intron_variant MELA-AU X 135791010 135791010 single base substitution G A intron_variant MELA-AU X 135791094 135791094 single base substitution G A intron_variant MELA-AU X 135791174 135791174 single base substitution A G intron_variant MELA-AU X 135791385 135791385 single base substitution G A intron_variant MELA-AU X 135791748 135791748 single base substitution A C intron_variant MELA-AU X 135792922 135792922 single base substitution C T intron_variant MELA-AU X 135793307 135793307 single base substitution C T intron_variant MELA-AU X 135793339 135793339 single base substitution G A intron_variant MELA-AU X 135794088 135794088 single base substitution G A intron_variant MELA-AU X 135794144 135794144 single base substitution G A intron_variant MELA-AU X 135794286 135794286 single base substitution C T intron_variant MELA-AU X 135794331 135794331 single base substitution G A intron_variant MELA-AU X 135794371 135794371 single base substitution G A intron_variant MELA-AU X 135795778 135795778 single base substitution G A intron_variant MELA-AU X 135795981 135795981 single base substitution A T intron_variant MELA-AU X 135796302 135796302 single base substitution C T intron_variant MELA-AU X 135796858 135796858 single base substitution A T intron_variant MELA-AU X 135800297 135800297 single base substitution G A intron_variant MELA-AU X 135801432 135801432 single base substitution G A intron_variant MELA-AU X 135801797 135801797 single base substitution G A intron_variant MELA-AU X 135801980 135801980 single base substitution A C intron_variant MELA-AU X 135802417 135802417 single base substitution C T intron_variant MELA-AU X 135802855 135802856 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 135803120 135803120 single base substitution A G intron_variant MELA-AU X 135803973 135803973 single base substitution G A intron_variant MELA-AU X 135804795 135804795 single base substitution C G intron_variant MELA-AU X 135806582 135806582 single base substitution C T intron_variant MELA-AU X 135807309 135807309 single base substitution G A intron_variant MELA-AU X 135808342 135808342 single base substitution G A intron_variant MELA-AU X 135808917 135808917 single base substitution G A intron_variant MELA-AU X 135809358 135809358 single base substitution G A intron_variant MELA-AU X 135809546 135809546 single base substitution T C intron_variant MELA-AU X 135809584 135809584 single base substitution C T intron_variant MELA-AU X 135810451 135810451 single base substitution C G intron_variant MELA-AU X 135810725 135810725 single base substitution C T intron_variant MELA-AU X 135811773 135811773 single base substitution G A intron_variant MELA-AU X 135812875 135812875 single base substitution G A intron_variant MELA-AU X 135813367 135813367 single base substitution A G intron_variant MELA-AU X 135814712 135814712 single base substitution G A intron_variant MELA-AU X 135815260 135815260 single base substitution G A intron_variant MELA-AU X 135815276 135815276 single base substitution C G intron_variant MELA-AU X 135815876 135815876 single base substitution C T intron_variant MELA-AU X 135816615 135816615 single base substitution G A intron_variant MELA-AU X 135816674 135816674 single base substitution A G intron_variant MELA-AU X 135816738 135816738 single base substitution G A intron_variant MELA-AU X 135816994 135816994 single base substitution C A intron_variant MELA-AU X 135817710 135817710 single base substitution G A intron_variant MELA-AU X 135817778 135817778 single base substitution C T intron_variant MELA-AU X 135818024 135818024 single base substitution C T intron_variant MELA-AU X 135818059 135818059 single base substitution G A intron_variant MELA-AU X 135818157 135818157 single base substitution G A intron_variant MELA-AU X 135819044 135819044 single base substitution G A intron_variant MELA-AU X 135819403 135819403 single base substitution C T intron_variant MELA-AU X 135820679 135820679 single base substitution T C intron_variant MELA-AU X 135820708 135820708 single base substitution C T intron_variant MELA-AU X 135821048 135821048 single base substitution C T intron_variant MELA-AU X 135821298 135821298 single base substitution A G intron_variant MELA-AU X 135821618 135821618 single base substitution A C intron_variant MELA-AU X 135821692 135821692 single base substitution G A intron_variant MELA-AU X 135821788 135821788 single base substitution G A intron_variant MELA-AU X 135822156 135822156 single base substitution A T intron_variant MELA-AU X 135823459 135823459 single base substitution G A intron_variant MELA-AU X 135823660 135823660 single base substitution A G intron_variant MELA-AU X 135824160 135824160 single base substitution G A intron_variant MELA-AU X 135824182 135824182 single base substitution T C intron_variant MELA-AU X 135824520 135824520 single base substitution C T intron_variant MELA-AU X 135824553 135824553 single base substitution A T intron_variant MELA-AU X 135825081 135825081 single base substitution T C intron_variant MELA-AU X 135826011 135826012 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU X 135826109 135826109 single base substitution G T intron_variant MELA-AU X 135826120 135826120 single base substitution C T intron_variant MELA-AU X 135826973 135826973 single base substitution A T intron_variant MELA-AU X 135826979 135826979 single base substitution A C intron_variant MELA-AU X 135827008 135827008 single base substitution C T intron_variant MELA-AU X 135827163 135827163 single base substitution G A intron_variant MELA-AU X 135827221 135827221 single base substitution C T intron_variant MELA-AU X 135827831 135827831 single base substitution G A intron_variant MELA-AU X 135828022 135828022 single base substitution G A intron_variant MELA-AU X 135828072 135828072 single base substitution G A intron_variant MELA-AU X 135828184 135828184 single base substitution C T intron_variant MELA-AU X 135828260 135828260 single base substitution G A intron_variant MELA-AU X 135828289 135828289 single base substitution C T intron_variant MELA-AU X 135829007 135829007 single base substitution C T intron_variant MELA-AU X 135829269 135829269 single base substitution G A intron_variant MELA-AU X 135829598 135829598 single base substitution C T intron_variant MELA-AU X 135830858 135830858 single base substitution G A intron_variant MELA-AU X 135832118 135832118 single base substitution C T intron_variant MELA-AU X 135832405 135832405 single base substitution G A intron_variant MELA-AU X 135833000 135833000 single base substitution C T intron_variant MELA-AU X 135833042 135833042 single base substitution A G intron_variant MELA-AU X 135833298 135833298 single base substitution G A intron_variant MELA-AU X 135833693 135833693 single base substitution C T intron_variant MELA-AU X 135833792 135833792 single base substitution G A intron_variant MELA-AU X 135834346 135834346 single base substitution G A intron_variant MELA-AU X 135834393 135834393 single base substitution G A intron_variant MELA-AU X 135834551 135834551 single base substitution G A intron_variant MELA-AU X 135834818 135834818 single base substitution G A intron_variant MELA-AU X 135835370 135835370 single base substitution G A intron_variant MELA-AU X 135836345 135836345 single base substitution G A intron_variant MELA-AU X 135836744 135836744 single base substitution A T intron_variant MELA-AU X 135836759 135836759 single base substitution C G intron_variant MELA-AU X 135837150 135837150 single base substitution G A intron_variant MELA-AU X 135837213 135837213 single base substitution A G intron_variant MELA-AU X 135837356 135837356 single base substitution T C intron_variant MELA-AU X 135838039 135838039 single base substitution G A intron_variant MELA-AU X 135838793 135838793 single base substitution G A intron_variant MELA-AU X 135839098 135839098 single base substitution G A intron_variant MELA-AU X 135840850 135840850 single base substitution G A intron_variant MELA-AU X 135841569 135841569 single base substitution G A intron_variant MELA-AU X 135841647 135841647 single base substitution G A intron_variant MELA-AU X 135842444 135842464 deletion of <=200bp ACCAATCGCTCTGCATACCTT - intron_variant MELA-AU X 135842855 135842855 single base substitution C A intron_variant MELA-AU X 135843548 135843548 single base substitution G A intron_variant MELA-AU X 135844311 135844311 single base substitution G A intron_variant MELA-AU X 135844397 135844397 single base substitution A G intron_variant MELA-AU X 135845518 135845518 single base substitution C T intron_variant MELA-AU X 135847860 135847860 single base substitution G A intron_variant MELA-AU X 135847871 135847871 single base substitution G A intron_variant MELA-AU X 135848380 135848380 single base substitution C T intron_variant MELA-AU X 135848391 135848391 single base substitution C T intron_variant MELA-AU X 135848473 135848473 single base substitution C T intron_variant MELA-AU X 135850187 135850187 single base substitution G A intron_variant MELA-AU X 135850187 135850187 single base substitution G A upstream_gene_variant MELA-AU X 135850198 135850199 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU X 135850198 135850199 multiple base substitution (>=2bp and <=200bp) TC AT upstream_gene_variant MELA-AU X 135850371 135850371 single base substitution C A intron_variant MELA-AU X 135850371 135850371 single base substitution C A upstream_gene_variant MELA-AU X 135850699 135850699 single base substitution C T 5_prime_UTR_variant MELA-AU X 135850699 135850699 single base substitution C T intron_variant MELA-AU X 135850699 135850699 single base substitution C T upstream_gene_variant MELA-AU X 135851195 135851195 single base substitution G A intron_variant MELA-AU X 135851195 135851195 single base substitution G A upstream_gene_variant MELA-AU X 135851373 135851374 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 135851373 135851374 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU X 135852376 135852376 single base substitution C T intron_variant MELA-AU X 135852376 135852376 single base substitution C T upstream_gene_variant MELA-AU X 135852617 135852617 single base substitution C T intron_variant MELA-AU X 135852617 135852617 single base substitution C T upstream_gene_variant MELA-AU X 135853516 135853516 single base substitution C T intron_variant MELA-AU X 135853516 135853516 single base substitution C T upstream_gene_variant MELA-AU X 135853799 135853799 single base substitution G A intron_variant MELA-AU X 135853799 135853799 single base substitution G A upstream_gene_variant MELA-AU X 135853879 135853879 single base substitution T C intron_variant MELA-AU X 135853879 135853879 single base substitution T C upstream_gene_variant MELA-AU X 135854915 135854916 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 135854915 135854916 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU X 135854990 135854990 single base substitution C T intron_variant MELA-AU X 135854990 135854990 single base substitution C T upstream_gene_variant MELA-AU X 135854990 135854991 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 135854990 135854991 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU X 135855490 135855490 single base substitution C T intron_variant MELA-AU X 135855490 135855490 single base substitution C T upstream_gene_variant MELA-AU X 135855842 135855842 single base substitution T C intron_variant MELA-AU X 135856203 135856203 single base substitution G A intron_variant MELA-AU X 135856589 135856589 single base substitution C T intron_variant MELA-AU X 135857090 135857090 deletion of <=200bp A - intron_variant MELA-AU X 135857103 135857103 single base substitution C T intron_variant MELA-AU X 135857119 135857119 single base substitution G A intron_variant MELA-AU X 135857247 135857247 single base substitution C T intron_variant MELA-AU X 135857341 135857341 single base substitution C T intron_variant MELA-AU X 135857426 135857426 single base substitution C T intron_variant MELA-AU X 135857505 135857505 single base substitution C T intron_variant MELA-AU X 135857735 135857735 single base substitution C T intron_variant MELA-AU X 135857744 135857744 single base substitution A G intron_variant MELA-AU X 135857905 135857905 single base substitution G A intron_variant MELA-AU X 135858257 135858257 single base substitution G A intron_variant MELA-AU X 135858947 135858947 single base substitution G A intron_variant MELA-AU X 135859630 135859630 single base substitution G A intron_variant MELA-AU X 135859686 135859686 single base substitution C T intron_variant MELA-AU X 135860048 135860048 single base substitution G A intron_variant MELA-AU X 135860079 135860079 single base substitution A G intron_variant MELA-AU X 135860500 135860500 single base substitution C T intron_variant MELA-AU X 135860752 135860752 single base substitution G A intron_variant MELA-AU X 135860984 135860984 single base substitution C T intron_variant MELA-AU X 135861131 135861131 single base substitution T A intron_variant MELA-AU X 135861191 135861191 single base substitution G A intron_variant MELA-AU X 135861213 135861213 single base substitution C T intron_variant MELA-AU X 135861729 135861729 single base substitution G A intron_variant MELA-AU X 135861832 135861832 single base substitution G A intron_variant MELA-AU X 135861932 135861932 single base substitution G A intron_variant MELA-AU X 135862267 135862267 single base substitution C T intron_variant MELA-AU X 135862432 135862432 single base substitution C T intron_variant MELA-AU X 135862440 135862440 single base substitution G A intron_variant MELA-AU X 135862661 135862661 single base substitution T C intron_variant MELA-AU X 135863035 135863035 single base substitution G A missense_variant P3S 7C>T MELA-AU X 135863188 135863188 single base substitution A C 5_prime_UTR_variant MELA-AU X 135863627 135863627 single base substitution G A 5_prime_UTR_variant MELA-AU X 135864501 135864502 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU X 135865192 135865192 single base substitution A T upstream_gene_variant MELA-AU X 135865835 135865835 single base substitution C T upstream_gene_variant MELA-AU X 135866535 135866536 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU X 135866871 135866871 single base substitution C T upstream_gene_variant MELA-AU X 135867199 135867199 single base substitution T C upstream_gene_variant MELA-AU X 135867691 135867691 single base substitution G A upstream_gene_variant MELA-AU X 135867718 135867718 single base substitution G A upstream_gene_variant MELA-AU X 135868169 135868169 single base substitution C T upstream_gene_variant MELA-AU X 135868268 135868268 single base substitution G A upstream_gene_variant MELA-AU X 135868576 135868576 single base substitution G A upstream_gene_variant MELA-AU X 135868739 135868739 single base substitution G A upstream_gene_variant MELA-AU X 135868789 135868789 single base substitution G A upstream_gene_variant MELA-AU X 135868924 135868924 single base substitution C T upstream_gene_variant MELA-AU X 135869028 135869028 single base substitution G A upstream_gene_variant MELA-AU X 135869152 135869152 single base substitution A T upstream_gene_variant ORCA-IN X 135758478 135758478 single base substitution G C intron_variant ORCA-IN X 135767901 135767901 single base substitution C G missense_variant D289H 865G>C ORCA-IN X 135767901 135767901 single base substitution C G missense_variant D316H 946G>C ORCA-IN X 135767901 135767901 single base substitution C G missense_variant D443H 1327G>C ORCA-IN X 135784960 135784960 single base substitution C G intron_variant ORCA-IN X 135790522 135790522 single base substitution C T intron_variant ORCA-IN X 135825906 135825906 single base substitution C A missense_variant A13S 37G>T ORCA-IN X 135825906 135825906 single base substitution C A missense_variant A167S 499G>T OV-AU X 135750344 135750344 single base substitution A T intron_variant OV-AU X 135751500 135751500 single base substitution A G intron_variant OV-AU X 135754592 135754592 single base substitution T C intron_variant OV-AU X 135754751 135754751 single base substitution C A intron_variant OV-AU X 135756021 135756021 single base substitution C A intron_variant OV-AU X 135756022 135756022 single base substitution G T intron_variant OV-AU X 135757287 135757287 single base substitution A T intron_variant OV-AU X 135760617 135760617 single base substitution C T intron_variant OV-AU X 135767057 135767057 single base substitution T C intron_variant OV-AU X 135773567 135773567 single base substitution G A intron_variant OV-AU X 135779575 135779575 single base substitution A G intron_variant OV-AU X 135781235 135781235 single base substitution G T intron_variant OV-AU X 135789607 135789607 single base substitution C A intron_variant OV-AU X 135789618 135789618 single base substitution T A intron_variant OV-AU X 135789773 135789773 single base substitution T A intron_variant OV-AU X 135790235 135790235 single base substitution A G intron_variant OV-AU X 135792482 135792482 single base substitution T C intron_variant OV-AU X 135798129 135798129 single base substitution C T intron_variant OV-AU X 135803354 135803354 single base substitution G T intron_variant OV-AU X 135803549 135803549 single base substitution C A intron_variant OV-AU X 135805593 135805593 single base substitution T C intron_variant OV-AU X 135806250 135806250 single base substitution T G intron_variant OV-AU X 135809496 135809496 single base substitution C T intron_variant OV-AU X 135811408 135811408 single base substitution C A intron_variant OV-AU X 135813789 135813789 single base substitution C T intron_variant OV-AU X 135814636 135814636 single base substitution A G intron_variant OV-AU X 135817791 135817791 single base substitution T A intron_variant OV-AU X 135819699 135819699 single base substitution A C intron_variant OV-AU X 135823222 135823222 single base substitution A C intron_variant OV-AU X 135833636 135833636 single base substitution G T intron_variant OV-AU X 135834609 135834609 single base substitution G T intron_variant OV-AU X 135842519 135842519 single base substitution C A intron_variant OV-AU X 135846740 135846740 single base substitution G A intron_variant OV-AU X 135849117 135849117 single base substitution C T intron_variant OV-AU X 135849297 135849297 single base substitution G T intron_variant OV-AU X 135854767 135854767 single base substitution C T intron_variant OV-AU X 135854767 135854767 single base substitution C T upstream_gene_variant OV-AU X 135856016 135856016 single base substitution G A intron_variant OV-AU X 135864837 135864837 single base substitution C A upstream_gene_variant OV-AU X 135866449 135866449 single base substitution C A upstream_gene_variant PACA-AU X 135756987 135756987 single base substitution C T intron_variant PACA-AU X 135757942 135757942 single base substitution G A intron_variant PACA-AU X 135759711 135759711 single base substitution C T intron_variant PACA-AU X 135769430 135769430 single base substitution A G intron_variant PACA-AU X 135770530 135770530 single base substitution C A intron_variant PACA-AU X 135773480 135773480 single base substitution A G intron_variant PACA-AU X 135775352 135775352 single base substitution T A intron_variant PACA-AU X 135776693 135776693 single base substitution G C intron_variant PACA-AU X 135778241 135778241 single base substitution C T intron_variant PACA-AU X 135791700 135791700 single base substitution T C intron_variant PACA-AU X 135792685 135792685 single base substitution C G intron_variant PACA-AU X 135794645 135794645 single base substitution C T intron_variant PACA-AU X 135796412 135796412 single base substitution G T intron_variant PACA-AU X 135797110 135797110 single base substitution C T intron_variant PACA-AU X 135798067 135798067 deletion of <=200bp T - intron_variant PACA-AU X 135800444 135800444 single base substitution T A intron_variant PACA-AU X 135815212 135815212 single base substitution C T intron_variant PACA-AU X 135818786 135818786 single base substitution G A intron_variant PACA-AU X 135839856 135839856 single base substitution T A intron_variant PACA-AU X 135840506 135840506 single base substitution C T intron_variant PACA-AU X 135847142 135847142 single base substitution G A intron_variant PACA-AU X 135853577 135853577 single base substitution G T intron_variant PACA-AU X 135853577 135853577 single base substitution G T upstream_gene_variant PACA-AU X 135858338 135858338 single base substitution A G intron_variant PACA-AU X 135858529 135858529 single base substitution A G intron_variant PACA-AU X 135860824 135860824 insertion of <=200bp - T intron_variant PACA-AU X 135861349 135861367 deletion of <=200bp TATAAAAGGCATTATTGTG - intron_variant PACA-AU X 135862974 135862974 single base substitution G C missense_variant T23S 68C>G PACA-AU X 135863051 135863051 single base substitution C T 5_prime_UTR_variant PACA-AU X 135863146 135863146 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU X 135866482 135866482 single base substitution G T upstream_gene_variant PACA-AU X 135868422 135868422 single base substitution G T upstream_gene_variant PACA-AU X 135869179 135869179 single base substitution T G upstream_gene_variant PACA-CA X 135744201 135744201 single base substitution A G downstream_gene_variant PACA-CA X 135748148 135748148 single base substitution G T 3_prime_UTR_variant PACA-CA X 135748148 135748148 single base substitution G T downstream_gene_variant PACA-CA X 135750692 135750692 single base substitution C A intron_variant PACA-CA X 135750695 135750695 single base substitution A C intron_variant PACA-CA X 135751354 135751354 single base substitution G A intron_variant PACA-CA X 135753981 135753981 single base substitution G A intron_variant PACA-CA X 135759335 135759335 single base substitution C T intron_variant PACA-CA X 135762912 135762912 single base substitution G A missense_variant S407L 1220C>T PACA-CA X 135762912 135762912 single base substitution G A missense_variant S434L 1301C>T PACA-CA X 135762912 135762912 single base substitution G A missense_variant S561L 1682C>T PACA-CA X 135767929 135767929 single base substitution G A synonymous_variant S279S 837C>T PACA-CA X 135767929 135767929 single base substitution G A synonymous_variant S306S 918C>T PACA-CA X 135767929 135767929 single base substitution G A synonymous_variant S433S 1299C>T PACA-CA X 135768784 135768784 single base substitution C T intron_variant PACA-CA X 135769316 135769316 single base substitution T G intron_variant PACA-CA X 135769653 135769653 single base substitution C T intron_variant PACA-CA X 135780186 135780186 single base substitution C T intron_variant PACA-CA X 135783247 135783247 single base substitution A C intron_variant PACA-CA X 135793815 135793815 single base substitution G A intron_variant PACA-CA X 135795224 135795224 single base substitution C T intron_variant PACA-CA X 135796097 135796097 single base substitution C T intron_variant PACA-CA X 135796292 135796292 insertion of <=200bp - A intron_variant PACA-CA X 135796518 135796518 single base substitution G A intron_variant PACA-CA X 135804824 135804824 single base substitution G A intron_variant PACA-CA X 135809989 135809989 single base substitution G A intron_variant PACA-CA X 135811320 135811320 insertion of <=200bp - ATGGAAGAG intron_variant PACA-CA X 135813916 135813916 single base substitution G A intron_variant PACA-CA X 135817634 135817634 deletion of <=200bp G - intron_variant PACA-CA X 135819314 135819314 single base substitution G T intron_variant PACA-CA X 135820852 135820852 single base substitution A G intron_variant PACA-CA X 135821787 135821787 single base substitution G C intron_variant PACA-CA X 135824126 135824126 single base substitution A G intron_variant PACA-CA X 135824630 135824630 single base substitution G A intron_variant PACA-CA X 135830166 135830166 single base substitution C A intron_variant PACA-CA X 135831569 135831569 single base substitution A G intron_variant PACA-CA X 135833287 135833287 single base substitution C T intron_variant PACA-CA X 135837023 135837023 single base substitution G A intron_variant PACA-CA X 135843537 135843537 single base substitution G C intron_variant PACA-CA X 135844141 135844141 single base substitution T G intron_variant PACA-CA X 135846639 135846639 single base substitution G A intron_variant PACA-CA X 135848551 135848551 single base substitution T G intron_variant PACA-CA X 135849213 135849213 single base substitution G A intron_variant PACA-CA X 135857259 135857259 single base substitution A G intron_variant PACA-CA X 135861905 135861905 single base substitution T G intron_variant PACA-CA X 135861919 135861919 single base substitution G C intron_variant PACA-CA X 135864617 135864619 deletion of <=200bp GAA - upstream_gene_variant PACA-CA X 135865553 135865553 single base substitution T C upstream_gene_variant PACA-CA X 135867915 135867915 single base substitution C T upstream_gene_variant PAEN-AU X 135768420 135768420 single base substitution C A intron_variant PAEN-AU X 135807532 135807532 single base substitution C A intron_variant PAEN-AU X 135809021 135809021 single base substitution T A intron_variant PAEN-AU X 135843989 135843989 single base substitution T A intron_variant PAEN-AU X 135850304 135850304 single base substitution C T intron_variant PAEN-AU X 135850304 135850304 single base substitution C T upstream_gene_variant PAEN-AU X 135860735 135860735 single base substitution A C intron_variant PAEN-AU X 135864463 135864463 single base substitution T C upstream_gene_variant PAEN-IT X 135825841 135825841 single base substitution G A synonymous_variant Y188Y 564C>T PAEN-IT X 135825841 135825841 single base substitution G A synonymous_variant Y34Y 102C>T PAEN-IT X 135858526 135858526 single base substitution A T intron_variant PAEN-IT X 135859702 135859702 single base substitution C A intron_variant PBCA-DE X 135750689 135750689 single base substitution C A intron_variant PBCA-DE X 135751136 135751136 single base substitution G A intron_variant PBCA-DE X 135753050 135753050 single base substitution C A intron_variant PBCA-DE X 135755204 135755204 single base substitution G T intron_variant PBCA-DE X 135755934 135755934 single base substitution C A intron_variant PBCA-DE X 135766842 135766842 single base substitution T A intron_variant PBCA-DE X 135767403 135767403 single base substitution C A intron_variant PBCA-DE X 135769287 135769287 single base substitution C T intron_variant PBCA-DE X 135772983 135772983 single base substitution C T intron_variant PBCA-DE X 135782530 135782530 insertion of <=200bp - A intron_variant PBCA-DE X 135795960 135795960 single base substitution T C intron_variant PBCA-DE X 135798012 135798012 single base substitution T A intron_variant PBCA-DE X 135806238 135806238 deletion of <=200bp T - intron_variant PBCA-DE X 135812003 135812003 single base substitution C A intron_variant PBCA-DE X 135812467 135812467 single base substitution T A intron_variant PBCA-DE X 135818778 135818779 deletion of <=200bp GT - intron_variant PBCA-DE X 135824409 135824409 single base substitution C T intron_variant PBCA-DE X 135826849 135826849 single base substitution A T intron_variant PBCA-DE X 135830443 135830443 single base substitution A G intron_variant PBCA-DE X 135833151 135833151 insertion of <=200bp - T intron_variant PBCA-DE X 135840412 135840412 insertion of <=200bp - GT intron_variant PBCA-DE X 135840417 135840419 deletion of <=200bp AGC - intron_variant PBCA-DE X 135841040 135841040 single base substitution G A intron_variant PBCA-DE X 135848266 135848266 single base substitution A G intron_variant PBCA-DE X 135857838 135857838 single base substitution C G intron_variant PBCA-DE X 135859962 135859962 single base substitution A C intron_variant PBCA-DE X 135860751 135860751 single base substitution C T intron_variant PRAD-CA X 135750652 135750652 single base substitution C T intron_variant PRAD-CA X 135750692 135750692 single base substitution C A intron_variant PRAD-CA X 135760473 135760473 single base substitution C T intron_variant PRAD-CA X 135768755 135768755 single base substitution A G intron_variant PRAD-CA X 135768784 135768784 single base substitution C T intron_variant PRAD-CA X 135826907 135826907 single base substitution T C intron_variant PRAD-CA X 135849229 135849229 single base substitution G T intron_variant PRAD-CA X 135861414 135861414 single base substitution A C intron_variant PRAD-CA X 135868899 135868899 single base substitution A C upstream_gene_variant PRAD-UK X 135848843 135848843 single base substitution C A intron_variant PRAD-UK X 135852485 135852485 single base substitution C T intron_variant PRAD-UK X 135852485 135852485 single base substitution C T upstream_gene_variant PRAD-UK X 135859010 135859010 single base substitution A C intron_variant PRAD-US X 135790919 135790919 single base substitution C T missense_variant V126M 376G>A PRAD-US X 135790919 135790919 single base substitution C T missense_variant V153M 457G>A PRAD-US X 135790919 135790919 single base substitution C T missense_variant V280M 838G>A READ-US X 135764994 135764994 single base substitution C G missense_variant E314Q 940G>C READ-US X 135764994 135764994 single base substitution C G missense_variant E341Q 1021G>C READ-US X 135764994 135764994 single base substitution C G missense_variant E468Q 1402G>C READ-US X 135862934 135862934 single base substitution T G missense_variant K36N 108A>C RECA-EU X 135748395 135748395 single base substitution G A 3_prime_UTR_variant RECA-EU X 135748395 135748395 single base substitution G A downstream_gene_variant RECA-EU X 135748618 135748618 single base substitution G A 3_prime_UTR_variant RECA-EU X 135748618 135748618 single base substitution G A downstream_gene_variant RECA-EU X 135754213 135754213 single base substitution T A missense_variant T547S 1639A>T RECA-EU X 135754213 135754213 single base substitution T A missense_variant T574S 1720A>T RECA-EU X 135754213 135754213 single base substitution T A missense_variant T701S 2101A>T RECA-EU X 135769871 135769871 single base substitution G T intron_variant RECA-EU X 135814030 135814030 single base substitution T A intron_variant RECA-EU X 135843530 135843530 single base substitution C A intron_variant RECA-EU X 135855113 135855113 single base substitution G T intron_variant RECA-EU X 135855113 135855113 single base substitution G T upstream_gene_variant RECA-EU X 135867800 135867800 single base substitution A C upstream_gene_variant SKCA-BR X 135745559 135745570 deletion of <=200bp TTATATATATTA - downstream_gene_variant SKCA-BR X 135745596 135745601 deletion of <=200bp ATATAT - downstream_gene_variant SKCA-BR X 135747758 135747758 single base substitution A C 3_prime_UTR_variant SKCA-BR X 135747758 135747758 single base substitution A C downstream_gene_variant SKCA-BR X 135748083 135748083 single base substitution C T 3_prime_UTR_variant SKCA-BR X 135748083 135748083 single base substitution C T downstream_gene_variant SKCA-BR X 135748217 135748217 single base substitution G T 3_prime_UTR_variant SKCA-BR X 135748217 135748217 single base substitution G T downstream_gene_variant SKCA-BR X 135748438 135748438 single base substitution C T 3_prime_UTR_variant SKCA-BR X 135748438 135748438 single base substitution C T downstream_gene_variant SKCA-BR X 135749651 135749651 single base substitution T A 3_prime_UTR_variant SKCA-BR X 135749651 135749651 single base substitution T A downstream_gene_variant SKCA-BR X 135750692 135750692 single base substitution C A intron_variant SKCA-BR X 135752496 135752496 single base substitution G A intron_variant SKCA-BR X 135755044 135755044 single base substitution C T intron_variant SKCA-BR X 135756897 135756897 single base substitution T C intron_variant SKCA-BR X 135757236 135757236 single base substitution C T synonymous_variant E501E 1503G>A SKCA-BR X 135757236 135757236 single base substitution C T synonymous_variant E528E 1584G>A SKCA-BR X 135757236 135757236 single base substitution C T synonymous_variant E655E 1965G>A SKCA-BR X 135757509 135757509 single base substitution T G intron_variant SKCA-BR X 135757605 135757605 single base substitution C T intron_variant SKCA-BR X 135759624 135759624 single base substitution C T intron_variant SKCA-BR X 135759863 135759863 insertion of <=200bp - TA intron_variant SKCA-BR X 135764126 135764126 single base substitution C T missense_variant G340E 1019G>A SKCA-BR X 135764126 135764126 single base substitution C T missense_variant G367E 1100G>A SKCA-BR X 135764126 135764126 single base substitution C T missense_variant G494E 1481G>A SKCA-BR X 135767337 135767337 single base substitution G A intron_variant SKCA-BR X 135768782 135768782 single base substitution C T intron_variant SKCA-BR X 135768882 135768882 single base substitution T C intron_variant SKCA-BR X 135768884 135768884 single base substitution T C intron_variant SKCA-BR X 135773645 135773645 single base substitution G A intron_variant SKCA-BR X 135779089 135779089 single base substitution C T intron_variant SKCA-BR X 135782458 135782458 single base substitution T G intron_variant SKCA-BR X 135785869 135785869 single base substitution T C intron_variant SKCA-BR X 135788149 135788149 single base substitution C T intron_variant SKCA-BR X 135788871 135788871 single base substitution C A intron_variant SKCA-BR X 135788952 135788952 single base substitution C T intron_variant SKCA-BR X 135789977 135789977 single base substitution G A intron_variant SKCA-BR X 135792079 135792079 single base substitution C T intron_variant SKCA-BR X 135801474 135801474 single base substitution C T intron_variant SKCA-BR X 135808300 135808300 single base substitution G A intron_variant SKCA-BR X 135809468 135809468 insertion of <=200bp - TTCTT intron_variant SKCA-BR X 135809484 135809484 insertion of <=200bp - TTCTTTTTC intron_variant SKCA-BR X 135809486 135809486 single base substitution T C intron_variant SKCA-BR X 135809488 135809488 single base substitution C T intron_variant SKCA-BR X 135809554 135809556 deletion of <=200bp TTC - intron_variant SKCA-BR X 135817349 135817349 single base substitution G A intron_variant SKCA-BR X 135817496 135817496 single base substitution C T intron_variant SKCA-BR X 135822075 135822075 single base substitution G A intron_variant SKCA-BR X 135823672 135823672 single base substitution G A intron_variant SKCA-BR X 135829499 135829499 single base substitution A G intron_variant SKCA-BR X 135833536 135833536 single base substitution G A intron_variant SKCA-BR X 135834678 135834678 single base substitution C T intron_variant SKCA-BR X 135836756 135836756 single base substitution C A intron_variant SKCA-BR X 135836855 135836855 single base substitution G A intron_variant SKCA-BR X 135837753 135837753 single base substitution A G intron_variant SKCA-BR X 135848820 135848820 single base substitution G A intron_variant SKCA-BR X 135849778 135849778 single base substitution T G intron_variant SKCA-BR X 135849778 135849778 single base substitution T G upstream_gene_variant SKCA-BR X 135857946 135857946 single base substitution C T intron_variant SKCA-BR X 135859920 135859920 insertion of <=200bp - TACACACACAC intron_variant SKCA-BR X 135864220 135864220 single base substitution G A 5_prime_UTR_variant SKCA-BR X 135864767 135864767 single base substitution A G upstream_gene_variant SKCA-BR X 135866427 135866427 single base substitution C T upstream_gene_variant SKCA-BR X 135866960 135866960 single base substitution G A upstream_gene_variant SKCA-BR X 135868349 135868349 single base substitution G A upstream_gene_variant SKCM-US X 135757223 135757223 single base substitution G A missense_variant L506F 1516C>T SKCM-US X 135757223 135757223 single base substitution G A missense_variant L533F 1597C>T SKCM-US X 135757223 135757223 single base substitution G A missense_variant L660F 1978C>T SKCM-US X 135758808 135758808 single base substitution C T synonymous_variant S486S 1458G>A SKCM-US X 135758808 135758808 single base substitution C T synonymous_variant S513S 1539G>A SKCM-US X 135758808 135758808 single base substitution C T synonymous_variant S640S 1920G>A SKCM-US X 135762891 135762891 single base substitution G A missense_variant S414F 1241C>T SKCM-US X 135762891 135762891 single base substitution G A missense_variant S441F 1322C>T SKCM-US X 135762891 135762891 single base substitution G A missense_variant S568F 1703C>T SKCM-US X 135762906 135762906 single base substitution G A missense_variant S409L 1226C>T SKCM-US X 135762906 135762906 single base substitution G A missense_variant S436L 1307C>T SKCM-US X 135762906 135762906 single base substitution G A missense_variant S563L 1688C>T SKCM-US X 135764126 135764126 single base substitution C T missense_variant G340E 1019G>A SKCM-US X 135764126 135764126 single base substitution C T missense_variant G367E 1100G>A SKCM-US X 135764126 135764126 single base substitution C T missense_variant G494E 1481G>A SKCM-US X 135764997 135764997 single base substitution C T missense_variant E313K 937G>A SKCM-US X 135764997 135764997 single base substitution C T missense_variant E340K 1018G>A SKCM-US X 135764997 135764997 single base substitution C T missense_variant E467K 1399G>A SKCM-US X 135770135 135770135 single base substitution G A missense_variant H247Y 739C>T SKCM-US X 135770135 135770135 single base substitution G A missense_variant H274Y 820C>T SKCM-US X 135770135 135770135 single base substitution G A missense_variant H401Y 1201C>T SKCM-US X 135770138 135770138 single base substitution C T missense_variant D246N 736G>A SKCM-US X 135770138 135770138 single base substitution C T missense_variant D273N 817G>A SKCM-US X 135770138 135770138 single base substitution C T missense_variant D400N 1198G>A SKCM-US X 135827495 135827495 single base substitution C T 5_prime_UTR_variant SKCM-US X 135827495 135827495 single base substitution C T missense_variant E116K 346G>A SKCM-US X 135829724 135829724 single base substitution C T 5_prime_UTR_variant SKCM-US X 135829724 135829724 single base substitution C T missense_variant G93R 277G>A SKCM-US X 135862953 135862953 single base substitution A C missense_variant F30C 89T>G STAD-US X 135750188 135750188 single base substitution T G stop_lost *623Y 1869A>C STAD-US X 135750188 135750188 single base substitution T G stop_lost *650Y 1950A>C STAD-US X 135750188 135750188 single base substitution T G stop_lost *777Y 2331A>C STAD-US X 135751673 135751673 single base substitution C T missense_variant A566T 1696G>A STAD-US X 135751673 135751673 single base substitution C T missense_variant A593T 1777G>A STAD-US X 135751673 135751673 single base substitution C T missense_variant A720T 2158G>A STAD-US X 135754267 135754267 single base substitution C A missense_variant D529Y 1585G>T STAD-US X 135754267 135754267 single base substitution C A missense_variant D556Y 1666G>T STAD-US X 135754267 135754267 single base substitution C A missense_variant D683Y 2047G>T STAD-US X 135761761 135761761 single base substitution G T missense_variant P434Q 1301C>A STAD-US X 135761761 135761761 single base substitution G T missense_variant P461Q 1382C>A STAD-US X 135761761 135761761 single base substitution G T missense_variant P588Q 1763C>A STAD-US X 135763009 135763009 single base substitution G T missense_variant H375N 1123C>A STAD-US X 135763009 135763009 single base substitution G T missense_variant H402N 1204C>A STAD-US X 135763009 135763009 single base substitution G T missense_variant H529N 1585C>A STAD-US X 135764121 135764121 deletion of <=200bp T - frameshift_variant I342 STAD-US X 135764121 135764121 deletion of <=200bp T - frameshift_variant I369 STAD-US X 135764121 135764121 deletion of <=200bp T - frameshift_variant I496 STAD-US X 135764958 135764958 single base substitution T G missense_variant M326L 976A>C STAD-US X 135764958 135764958 single base substitution T G missense_variant M353L 1057A>C STAD-US X 135764958 135764958 single base substitution T G missense_variant M480L 1438A>C STAD-US X 135764986 135764986 single base substitution G T stop_gained Y316* 948C>A STAD-US X 135764986 135764986 single base substitution G T stop_gained Y343* 1029C>A STAD-US X 135764986 135764986 single base substitution G T stop_gained Y470* 1410C>A STAD-US X 135770113 135770113 single base substitution A C missense_variant I254S 761T>G STAD-US X 135770113 135770113 single base substitution A C missense_variant I281S 842T>G STAD-US X 135770113 135770113 single base substitution A C missense_variant I408S 1223T>G STAD-US X 135789067 135789067 single base substitution C A missense_variant S195I 584G>T STAD-US X 135789067 135789067 single base substitution C A missense_variant S222I 665G>T STAD-US X 135789067 135789067 single base substitution C A missense_variant S349I 1046G>T STAD-US X 135790867 135790867 single base substitution T C missense_variant Q143R 428A>G STAD-US X 135790867 135790867 single base substitution T C missense_variant Q170R 509A>G STAD-US X 135790867 135790867 single base substitution T C missense_variant Q297R 890A>G STAD-US X 135825784 135825784 single base substitution G A synonymous_variant G207G 621C>T STAD-US X 135825784 135825784 single base substitution G A synonymous_variant G53G 159C>T STAD-US X 135825841 135825841 single base substitution G A synonymous_variant Y188Y 564C>T STAD-US X 135825841 135825841 single base substitution G A synonymous_variant Y34Y 102C>T STAD-US X 135861601 135861601 single base substitution A T missense_variant L74Q 221T>A STAD-US X 135862980 135862980 single base substitution T G missense_variant K21T 62A>C THCA-US X 135767911 135767911 single base substitution C A missense_variant W285C 855G>T THCA-US X 135767911 135767911 single base substitution C A missense_variant W312C 936G>T THCA-US X 135767911 135767911 single base substitution C A missense_variant W439C 1317G>T THCA-US X 135827439 135827439 single base substitution G A 5_prime_UTR_variant THCA-US X 135827439 135827439 single base substitution G A synonymous_variant N134N 402C>T UCEC-US X 135750206 135750206 single base substitution C A missense_variant K617N 1851G>T UCEC-US X 135750206 135750206 single base substitution C A missense_variant K644N 1932G>T UCEC-US X 135750206 135750206 single base substitution C A missense_variant K771N 2313G>T UCEC-US X 135750226 135750226 single base substitution G A stop_gained R611* 1831C>T UCEC-US X 135750226 135750226 single base substitution G A stop_gained R638* 1912C>T UCEC-US X 135750226 135750226 single base substitution G A stop_gained R765* 2293C>T UCEC-US X 135750259 135750259 single base substitution G A missense_variant R600W 1798C>T UCEC-US X 135750259 135750259 single base substitution G A missense_variant R627W 1879C>T UCEC-US X 135750259 135750259 single base substitution G A missense_variant R754W 2260C>T UCEC-US X 135751652 135751652 single base substitution C A stop_gained E573* 1717G>T UCEC-US X 135751652 135751652 single base substitution C A stop_gained E600* 1798G>T UCEC-US X 135751652 135751652 single base substitution C A stop_gained E727* 2179G>T UCEC-US X 135754267 135754267 single base substitution C A missense_variant D529Y 1585G>T UCEC-US X 135754267 135754267 single base substitution C A missense_variant D556Y 1666G>T UCEC-US X 135754267 135754267 single base substitution C A missense_variant D683Y 2047G>T UCEC-US X 135757256 135757256 single base substitution C A splice_acceptor_variant UCEC-US X 135761711 135761711 single base substitution C T missense_variant A451T 1351G>A UCEC-US X 135761711 135761711 single base substitution C T missense_variant A478T 1432G>A UCEC-US X 135761711 135761711 single base substitution C T missense_variant A605T 1813G>A UCEC-US X 135762943 135762943 single base substitution C T missense_variant A397T 1189G>A UCEC-US X 135762943 135762943 single base substitution C T missense_variant A424T 1270G>A UCEC-US X 135762943 135762943 single base substitution C T missense_variant A551T 1651G>A UCEC-US X 135762983 135762983 single base substitution C A missense_variant Q383H 1149G>T UCEC-US X 135762983 135762983 single base substitution C A missense_variant Q410H 1230G>T UCEC-US X 135762983 135762983 single base substitution C A missense_variant Q537H 1611G>T UCEC-US X 135764992 135764992 single base substitution C T synonymous_variant E314E 942G>A UCEC-US X 135764992 135764992 single base substitution C T synonymous_variant E341E 1023G>A UCEC-US X 135764992 135764992 single base substitution C T synonymous_variant E468E 1404G>A UCEC-US X 135767874 135767874 single base substitution A G missense_variant F298L 892T>C UCEC-US X 135767874 135767874 single base substitution A G missense_variant F325L 973T>C UCEC-US X 135767874 135767874 single base substitution A G missense_variant F452L 1354T>C UCEC-US X 135767890 135767890 single base substitution G A synonymous_variant N292N 876C>T UCEC-US X 135767890 135767890 single base substitution G A synonymous_variant N319N 957C>T UCEC-US X 135767890 135767890 single base substitution G A synonymous_variant N446N 1338C>T UCEC-US X 135767904 135767904 single base substitution C T missense_variant E288K 862G>A UCEC-US X 135767904 135767904 single base substitution C T missense_variant E315K 943G>A UCEC-US X 135767904 135767904 single base substitution C T missense_variant E442K 1324G>A UCEC-US X 135770138 135770138 single base substitution C T missense_variant D246N 736G>A UCEC-US X 135770138 135770138 single base substitution C T missense_variant D273N 817G>A UCEC-US X 135770138 135770138 single base substitution C T missense_variant D400N 1198G>A UCEC-US X 135772825 135772825 single base substitution A G missense_variant F223L 667T>C UCEC-US X 135772825 135772825 single base substitution A G missense_variant F250L 748T>C UCEC-US X 135772825 135772825 single base substitution A G missense_variant F377L 1129T>C UCEC-US X 135772868 135772868 single base substitution C T synonymous_variant S208S 624G>A UCEC-US X 135772868 135772868 single base substitution C T synonymous_variant S235S 705G>A UCEC-US X 135772868 135772868 single base substitution C T synonymous_variant S362S 1086G>A UCEC-US X 135772879 135772879 single base substitution G C missense_variant Q205E 613C>G UCEC-US X 135772879 135772879 single base substitution G C missense_variant Q232E 694C>G UCEC-US X 135772879 135772879 single base substitution G C missense_variant Q359E 1075C>G UCEC-US X 135789114 135789114 single base substitution A T synonymous_variant A179A 537T>A UCEC-US X 135789114 135789114 single base substitution A T synonymous_variant A206A 618T>A UCEC-US X 135789114 135789114 single base substitution A T synonymous_variant A333A 999T>A UCEC-US X 135790890 135790890 single base substitution G A synonymous_variant F135F 405C>T UCEC-US X 135790890 135790890 single base substitution G A synonymous_variant F162F 486C>T UCEC-US X 135790890 135790890 single base substitution G A synonymous_variant F289F 867C>T UCEC-US X 135790898 135790898 single base substitution C A stop_gained G133* 397G>T UCEC-US X 135790898 135790898 single base substitution C A stop_gained G160* 478G>T UCEC-US X 135790898 135790898 single base substitution C A stop_gained G287* 859G>T UCEC-US X 135790898 135790898 single base substitution C T missense_variant G133R 397G>A UCEC-US X 135790898 135790898 single base substitution C T missense_variant G160R 478G>A UCEC-US X 135790898 135790898 single base substitution C T missense_variant G287R 859G>A UCEC-US X 135790903 135790903 single base substitution A G missense_variant L131S 392T>C UCEC-US X 135790903 135790903 single base substitution A G missense_variant L158S 473T>C UCEC-US X 135790903 135790903 single base substitution A G missense_variant L285S 854T>C UCEC-US X 135795435 135795435 single base substitution T G missense_variant N122T 365A>C UCEC-US X 135795435 135795435 single base substitution T G missense_variant N149T 446A>C UCEC-US X 135795435 135795435 single base substitution T G missense_variant N276T 827A>C UCEC-US X 135795499 135795499 single base substitution C A stop_gained E101* 301G>T UCEC-US X 135795499 135795499 single base substitution C A stop_gained E128* 382G>T UCEC-US X 135795499 135795499 single base substitution C A stop_gained E255* 763G>T UCEC-US X 135814323 135814323 single base substitution G T missense_variant L224I 670C>A UCEC-US X 135814323 135814323 single base substitution G T missense_variant L70I 208C>A UCEC-US X 135814323 135814323 single base substitution G T missense_variant L97I 289C>A UCEC-US X 135827433 135827433 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US X 135827433 135827433 single base substitution C A missense_variant Q136H 408G>T UCEC-US X 135829752 135829752 single base substitution C A splice_acceptor_variant UCEC-US X 135861592 135861592 single base substitution C T missense_variant C77Y 230G>A UCEC-US X 135861632 135861632 single base substitution C T missense_variant A64T 190G>A UCEC-US X 135862955 135862957 deletion of <=200bp CTC - inframe_deletion E29 UCEC-US X 135863011 135863011 single base substitution G T missense_variant L11I 31C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-6706-01 COSM3231732 c.564C>T p.Y188Y Substitution - coding silent 23:136743682-136743682 - Pat_41_B COSM5877154 c.676C>T p.P226S Substitution - Missense 23:136732158-136732158 - BN01 COSM1625549 c.1734A>G p.G578G Substitution - coding silent 23:136679631-136679631 - D13 COSM5006991 c.2157C>T p.Y719Y Substitution - coding silent 23:136669515-136669515 - CHC1052T COSM3668677 c.468G>A p.T156T Substitution - coding silent 23:136743778-136743778 - TCGA-CA-6717-01 COSM1465878 c.1883A>C p.K628T Substitution - Missense 23:136676686-136676686 - PCSI_0358_Pa_P_526 COSM5761184 c.1299C>T p.S433S Substitution - coding silent 23:136685770-136685770 - TCGA-B5-A0JY-01 COSM1115796 c.1611G>T p.Q537H Substitution - Missense 23:136680824-136680824 - TCGA-AP-A054-01 COSM1115808 c.859G>A p.G287R Substitution - Missense 23:136708739-136708739 - TCGA-BS-A0TC-01 COSM1115790 c.2293C>T p.R765* Substitution - Nonsense 23:136668067-136668067 - YUVEME COSM3231742 c.85G>A p.E29K Substitution - Missense 23:136780798-136780798 - HT-29 COSM1682912 c.1960G>A p.E654K Substitution - Missense 23:136675082-136675082 - TCGA-D3-A3C7-06 COSM3558325 c.89T>G p.F30C Substitution - Missense 23:136780794-136780794 - EGC15 COSM5064406 c.459+1G>A p.? Unknown 23:136745222-136745222 - 1047T COSM3231732 c.564C>T p.Y188Y Substitution - coding silent 23:136743682-136743682 - RK308_C01 COSM3747332 c.675C>T p.S225S Substitution - coding silent 23:136732159-136732159 - TCGA-BR-8485-01 COSM4106943 c.2331A>C p.*777Y Nonstop extension 23:136668029-136668029 - TCGA-AP-A051-01 COSM1115797 c.1404G>A p.E468E Substitution - coding silent 23:136682833-136682833 - TCGA-AQ-A1H3-01 COSM1490530 c.406C>G p.Q136E Substitution - Missense 23:136745276-136745276 - TCGA-EE-A3JI-06 COSM3558320 c.1481G>A p.G494E Substitution - Missense 23:136681967-136681967 - TCGA-DM-A28C-01 COSM1465886 c.280G>A p.V94I Substitution - Missense 23:136747562-136747562 - Pat_28_B COSM5877155 c.308T>C p.L103P Substitution - Missense 23:136747534-136747534 - TCGA-AB-2950-03 COSM1319499 c.1171delG p.E391fs*15 Deletion - Frameshift 23:136690624-136690624 - CHC912T COSM4951395 c.2240G>T p.R747M Substitution - Missense 23:136668120-136668120 - 415 COSM4431418 c.2327C>A p.P776Q Substitution - Missense 23:136668033-136668033 - TCGA-14-1450-01 COSM3405997 c.2061A>T p.Q687H Substitution - Missense 23:136672094-136672094 - TCGA-BS-A0UF-01 COSM1115801 c.1198G>A p.D400N Substitution - Missense 23:136687979-136687979 - 20T COSM3713862 c.499G>T p.A167S Substitution - Missense 23:136743747-136743747 - PT35 COSM5914449 c.661+7G>A p.? Unknown 23:136743578-136743578 - TCGA-66-2793-01 COSM755215 c.644G>A p.R215H Substitution - Missense 23:136743602-136743602 - Gp2D COSM3231708 c.1948A>T p.T650S Substitution - Missense 23:136675094-136675094 - PGBM11PT COSM1580265 c.167T>G p.F56C Substitution - Missense 23:136779496-136779496 - TCGA-DU-7290-01 COSM3973302 c.145A>T p.M49L Substitution - Missense 23:136780738-136780738 - TCGA-A6-5661-01 COSM1465881 c.1249C>T p.Q417* Substitution - Nonsense 23:136685820-136685820 - ESCC-014T COSM3939802 c.2318C>G p.S773* Substitution - Nonsense 23:136668042-136668042 - HCC2998 COSM204608 c.717G>T p.K239N Substitution - Missense 23:136732117-136732117 - TCGA-AO-A0J6-01 COSM456830 c.1464T>A p.S488R Substitution - Missense 23:136682773-136682773 - TCGA-B5-A0JY-01 COSM1115807 c.867C>T p.F289F Substitution - coding silent 23:136708731-136708731 - HCT15 COSM3231727 c.705T>C p.A235A Substitution - coding silent 23:136732129-136732129 - LUAD-S01357 COSM388072 c.2294G>T p.R765L Substitution - Missense 23:136668066-136668066 - OSCC-GB_01060111 COSM4882703 c.1327G>C p.D443H Substitution - Missense 23:136685742-136685742 - TCGA-BG-A0M8-01 COSM1115818 c.163A>C p.K55Q Substitution - Missense 23:136780720-136780720 - TCGA-AP-A056-01 COSM1115800 c.1324G>A p.E442K Substitution - Missense 23:136685745-136685745 - LUAD-RT-S01813 COSM383681 c.140G>C p.R47T Substitution - Missense 23:136780743-136780743 - TCGA-BS-A0UF-01 COSM168663 c.2179G>T p.E727* Substitution - Nonsense 23:136669493-136669493 - TCGA-BS-A0UV-01 COSM1115806 c.999T>A p.A333A Substitution - coding silent 23:136706955-136706955 - TCGA-HU-A4H5-01 COSM4106952 c.221T>A p.L74Q Substitution - Missense 23:136779442-136779442 - 18 COSM5745544 c.473delA p.N158fs*6 Deletion - Frameshift 23:136743773-136743773 - TCGA-AJ-A23M-01 COSM1115793 c.1946-1G>T p.? Unknown 23:136675097-136675097 - CHC307T COSM250842 c.1406G>A p.R469Q Substitution - Missense 23:136682831-136682831 - TCGA-26-6174-01 COSM3405998 c.643C>T p.R215C Substitution - Missense 23:136743603-136743603 - TCGA-EM-A2CU-01 COSM3372084 c.402C>T p.N134N Substitution - coding silent 23:136745280-136745280 - PCSI_0208_Pa_P_526 COSM5031692 c.1682C>T p.S561L Substitution - Missense 23:136680753-136680753 - TCGA-A5-A0GB-01 COSM1115819 c.85_87delGAG p.E29delE Deletion - In frame 23:136780796-136780798 - I2L-P24Tb-Tumor-Biopsy COSM5367266 c.1594A>C p.N532H Substitution - Missense 23:136680841-136680841 - T2963 COSM4663194 c.467C>T p.T156M Substitution - Missense 23:136743779-136743779 - TCGA-AG-4021-01 COSM3424504 c.1402G>C p.E468Q Substitution - Missense 23:136682835-136682835 - 587376 COSM1183538 c.775G>T p.E259* Substitution - Nonsense 23:136713328-136713328 - P03-595 COSM243044 c.2042G>A p.R681Q Substitution - Missense 23:136672113-136672113 - TCGA-AX-A05S-01 COSM1115805 c.1075C>G p.Q359E Substitution - Missense 23:136690720-136690720 - TCGA-EK-A2RN-01 COSM4823023 c.1671C>A p.S557S Substitution - coding silent 23:136680764-136680764 - TCGA-AX-A0J1-01 COSM1115795 c.1651G>A p.A551T Substitution - Missense 23:136680784-136680784 - LIM2551 COSM4614090 c.1675delA p.T559fs*28 Deletion - Frameshift 23:136680760-136680760 - TCGA-FV-A4ZP-01 COSM4929516 c.22G>A p.V8M Substitution - Missense 23:136780861-136780861 - S02344 COSM5693932 c.1715C>T p.S572F Substitution - Missense 23:136679650-136679650 - TCGA-AP-A0LM-01 COSM1115791 c.2260C>T p.R754W Substitution - Missense 23:136668100-136668100 - sysucc-692T COSM5763823 c.1538A>G p.D513G Substitution - Missense 23:136681910-136681910 - TCGA-AX-A0J0-01 COSM1115810 c.854T>C p.L285S Substitution - Missense 23:136708744-136708744 - TCGA-BR-8680-01 COSM1115792 c.2047G>T p.D683Y Substitution - Missense 23:136672108-136672108 - CHC892T COSM4793742 c.1725G>A p.Q575Q Substitution - coding silent 23:136679640-136679640 - TCGA-AM-5820-01 COSM3694352 c.836C>A p.T279N Substitution - Missense 23:136708762-136708762 - TCGA-A3-3363-01 COSM1497145 c.554A>G p.D185G Substitution - Missense 23:136743692-136743692 - BN01T COSM1625549 c.1734A>G p.G578G Substitution - coding silent 23:136679631-136679631 - TCGA-FJ-A3ZF-01 COSM3800417 c.1747C>T p.P583S Substitution - Missense 23:136679618-136679618 - CSCC-7-T COSM4534894 c.2131G>T p.E711* Substitution - Nonsense 23:136672024-136672024 - YUQUEST COSM3558317 c.1978C>T p.L660F Substitution - Missense 23:136675064-136675064 - T12 COSM3843712 c.1300G>A p.E434K Substitution - Missense 23:136685769-136685769 - ESCC_130 COSM5642152 c.686T>A p.V229D Substitution - Missense 23:136732148-136732148 - CSCC-47-T COSM4476416 c.2068C>A p.L690I Substitution - Missense 23:136672087-136672087 - TCGA-EL-A3GO-01 COSM3372083 c.1317G>T p.W439C Substitution - Missense 23:136685752-136685752 - TCGA-AN-A046-01 COSM3843712 c.1300G>A p.E434K Substitution - Missense 23:136685769-136685769 - TCGA-BR-4183-01 COSM4106948 c.1410C>A p.Y470* Substitution - Nonsense 23:136682827-136682827 - TCGA-33-4538-01 COSM755216 c.808C>A p.P270T Substitution - Missense 23:136713295-136713295 - TCGA-BR-4361-01 COSM4106947 c.1438A>C p.M480L Substitution - Missense 23:136682799-136682799 - TCGA-AA-3663-01 COSM1465879 c.1716T>G p.S572S Substitution - coding silent 23:136679649-136679649 - T2269 COSM1115804 c.1086G>A p.S362S Substitution - coding silent 23:136690709-136690709 - TCGA-BG-A0M4-01 COSM1115803 c.1122C>A p.S374R Substitution - Missense 23:136690673-136690673 - ITNET_1047_T COSM3231732 c.564C>T p.Y188Y Substitution - coding silent 23:136743682-136743682 - TCGA-EE-A2MR-06 COSM3558318 c.1703C>T p.S568F Substitution - Missense 23:136680732-136680732 - TCGA-CA-6718-01 COSM1465880 c.1543A>C p.T515P Substitution - Missense 23:136681905-136681905 - HT29 COSM1682912 c.1960G>A p.E654K Substitution - Missense 23:136675082-136675082 - TCGA-B0-5075-01 COSM1497146 c.656C>G p.S219C Substitution - Missense 23:136743590-136743590 - 8034061 COSM3390439 c.68C>G p.T23S Substitution - Missense 23:136780815-136780815 - S00936 COSM309260 c.1807T>A p.S603T Substitution - Missense 23:136679558-136679558 - HT55 COSM3231718 c.1460T>G p.M487R Substitution - Missense 23:136682777-136682777 - TCGA-D1-A0ZO-01 COSM1115820 c.31C>A p.L11I Substitution - Missense 23:136780852-136780852 - TCGA-J9-A52C-01 COSM4877063 c.838G>A p.V280M Substitution - Missense 23:136708760-136708760 - 90879 COSM329145 c.42G>T p.L14F Substitution - Missense 23:136780841-136780841 - PD4109a COSM3664579 c.661+10G>A p.? Unknown 23:136743575-136743575 - HCC2998 COSM1682915 c.746T>C p.I249T Substitution - Missense 23:136713357-136713357 - CSCC-55-T COSM4474993 c.1957C>T p.L653L Substitution - coding silent 23:136675085-136675085 - 10-P083 COSM4589230 c.429T>C p.V143V Substitution - coding silent 23:136745253-136745253 - T1760 COSM4663192 c.1720G>A p.G574R Substitution - Missense 23:136679645-136679645 - TCGA-AZ-4315-01 COSM1465882 c.1236A>C p.K412N Substitution - Missense 23:136687941-136687941 - CSCC-44-T COSM4485053 c.288C>T p.F96F Substitution - coding silent 23:136747554-136747554 - T368 COSM4663193 c.987T>C p.S329S Substitution - coding silent 23:136706967-136706967 - BD54T COSM5501986 c.2048A>T p.D683V Substitution - Missense 23:136672107-136672107 - TCGA-DM-A28F-01 COSM1465887 c.80C>T p.P27L Substitution - Missense 23:136780803-136780803 - TCGA-B5-A0JY-01 COSM1115817 c.190G>A p.A64T Substitution - Missense 23:136779473-136779473 - Pat_66_A COSM5877153 c.1836G>T p.M612I Substitution - Missense 23:136677951-136677951 - TCGA-G7-6793-01 COSM3992365 c.513T>A p.F171L Substitution - Missense 23:136743733-136743733 - TCGA-B5-A0JN-01 COSM1115813 c.418T>A p.S140T Substitution - Missense 23:136745264-136745264 - TCGA-BH-A0E7-01 COSM456831 c.1128A>G p.P376P Substitution - coding silent 23:136690667-136690667 - T578 COSM168663 c.2179G>T p.E727* Substitution - Nonsense 23:136669493-136669493 - TCGA-DS-A0VM-01 COSM462311 c.2307T>G p.S769R Substitution - Missense 23:136668053-136668053 - ZZUFHECRKL-G033T COSM5437734 c.1875G>T p.T625T Substitution - coding silent 23:136676694-136676694 - TCGA-F5-6814-01 COSM3424505 c.108A>C p.K36N Substitution - Missense 23:136780775-136780775 - TCGA-DD-A1EL-01 COSM4925804 c.1990G>C p.E664Q Substitution - Missense 23:136675052-136675052 - TCGA-DA-A1HV-06 COSM3558317 c.1978C>T p.L660F Substitution - Missense 23:136675064-136675064 - sysucc-1365T COSM1465887 c.80C>T p.P27L Substitution - Missense 23:136780803-136780803 - TCGA-BS-A0UF-01 COSM1115794 c.1813G>A p.A605T Substitution - Missense 23:136679552-136679552 - CHC307T COSM250842 c.1406G>A p.R469Q Substitution - Missense 23:136682831-136682831 - CSCC-11-T COSM4492807 c.403C>T p.P135S Substitution - Missense 23:136745279-136745279 - HCC2998 COSM3231722 c.1054T>C p.L352L Substitution - coding silent 23:136690741-136690741 - PT33 COSM5909932 c.1763C>T p.P588L Substitution - Missense 23:136679602-136679602 - TCGA-BG-A0M8-01 COSM755215 c.644G>A p.R215H Substitution - Missense 23:136743602-136743602 - TCGA-BR-4363-01 COSM4106950 c.1046G>T p.S349I Substitution - Missense 23:136706908-136706908 - CX-1 COSM1682912 c.1960G>A p.E654K Substitution - Missense 23:136675082-136675082 - TCGA-AX-A0J0-01 COSM168663 c.2179G>T p.E727* Substitution - Nonsense 23:136669493-136669493 - TCGA-39-5029-01 COSM755217 c.1920G>A p.S640S Substitution - coding silent 23:136676649-136676649 - CHC892T COSM4793742 c.1725G>A p.Q575Q Substitution - coding silent 23:136679640-136679640 - TCGA-E9-A295-01 COSM1490528 c.2224G>A p.E742K Substitution - Missense 23:136668136-136668136 - TCGA-BR-8487-01 COSM4106945 c.1763C>A p.P588Q Substitution - Missense 23:136679602-136679602 - TCGA-CG-4300-01 COSM4106949 c.1223T>G p.I408S Substitution - Missense 23:136687954-136687954 - TCGA-BS-A0UF-01 COSM1115789 c.2313G>T p.K771N Substitution - Missense 23:136668047-136668047 - PGBM11PT COSM1580331 c.171T>A p.C57* Substitution - Nonsense 23:136779492-136779492 - TCGA-BS-A0TC-01 COSM1115802 c.1129T>C p.F377L Substitution - Missense 23:136690666-136690666 - TCGA-BR-4361-01 COSM4106951 c.890A>G p.Q297R Substitution - Missense 23:136708708-136708708 - 08-P054 COSM4589229 c.1095T>G p.G365G Substitution - coding silent 23:136690700-136690700 - TCGA-D3-A2J7-06 COSM3558324 c.277G>A p.G93R Substitution - Missense 23:136747565-136747565 - HCC2998 COSM204608 c.717G>T p.K239N Substitution - Missense 23:136732117-136732117 - PD4109a COSM3664579 c.661+10G>A p.? Unknown 23:136743575-136743575 - 298273MDS COSM1963693 c.1801_1802insT p.R601fs*9 Insertion - Frameshift 23:136679563-136679564 - LUAD-RT-S01777 COSM382634 c.996G>T p.L332L Substitution - coding silent 23:136706958-136706958 - ESO-164 COSM1245431 c.18A>T p.Q6H Substitution - Missense 23:136780865-136780865 - S00941 COSM5663906 c.3G>A p.M1I Substitution - Missense 23:136780880-136780880 - C086 COSM5526936 c.247G>A p.E83K Substitution - Missense 23:136779416-136779416 - DN11006 COSM5781752 c.1661G>C p.S554T Substitution - Missense 23:136680774-136680774 - A498 COSM1682914 c.1048G>A p.D350N Substitution - Missense 23:136690747-136690747 - TCGA-AN-A046-01 COSM3843711 c.1784G>A p.R595Q Substitution - Missense 23:136679581-136679581 - HCC2998 COSM1682911 c.2224G>T p.E742* Substitution - Nonsense 23:136668136-136668136 - NCI-H835 COSM3231741 c.85G>T p.E29* Substitution - Nonsense 23:136780798-136780798 - PT36 COSM5916925 c.166-7C>T p.? Unknown 23:136779504-136779504 - TCGA-B5-A11E-01 COSM1115812 c.670C>A p.L224I Substitution - Missense 23:136732164-136732164 - MOLT-4 COSM1682913 c.1082C>T p.A361V Substitution - Missense 23:136690713-136690713 - S00944 COSM5664329 c.227G>T p.G76V Substitution - Missense 23:136779436-136779436 - sysucc-1484T COSM4663192 c.1720G>A p.G574R Substitution - Missense 23:136679645-136679645 - ACINAR02 COSM1733202 c.1851+1G>A p.? Unknown 23:136677935-136677935 - TCGA-ER-A2NC-06 COSM1115801 c.1198G>A p.D400N Substitution - Missense 23:136687979-136687979 - PGBM11PT COSM1580264 c.172C>G p.L58V Substitution - Missense 23:136779491-136779491 - T2269 COSM3231694 c.2299G>A p.E767K Substitution - Missense 23:136668061-136668061 - TCGA-G4-6586-01 COSM1465875 c.2294G>A p.R765Q Substitution - Missense 23:136668066-136668066 - C547 COSM4442590 c.1539C>A p.D513E Substitution - Missense 23:136681909-136681909 - TCGA-D1-A16F-01 COSM1115816 c.230G>A p.C77Y Substitution - Missense 23:136779433-136779433 - TCGA-AP-A059-01 COSM1115798 c.1354T>C p.F452L Substitution - Missense 23:136685715-136685715 - TCGA-GI-A2C8-01 COSM1490529 c.1312G>C p.A438P Substitution - Missense 23:136685757-136685757 - 587302 COSM1183537 c.2158G>T p.A720S Substitution - Missense 23:136669514-136669514 - TCGA-AP-A0LM-01 COSM1115799 c.1338C>T p.N446N Substitution - coding silent 23:136685731-136685731 - TCGA-BR-4292-01 COSM4106944 c.2158G>A p.A720T Substitution - Missense 23:136669514-136669514 - sysucc-783T COSM1465887 c.80C>T p.P27L Substitution - Missense 23:136780803-136780803 - BD72T COSM5513887 c.2242G>A p.D748N Substitution - Missense 23:136668118-136668118 - HCC2998 COSM1682915 c.746T>C p.I249T Substitution - Missense 23:136713357-136713357 - TCGA-AP-A0LM-01 COSM1115804 c.1086G>A p.S362S Substitution - coding silent 23:136690709-136690709 - YURAY COSM5412071 c.1796C>T p.P599L Substitution - Missense 23:136679569-136679569 - TCGA-BS-A0TC-01 COSM1115792 c.2047G>T p.D683Y Substitution - Missense 23:136672108-136672108 - HX12T COSM1625550 c.1360T>C p.S454P Substitution - Missense 23:136685709-136685709 - TCGA-AP-A059-01 COSM1115814 c.408G>T p.Q136H Substitution - Missense 23:136745274-136745274 - RK137_C01 COSM1636399 c.921A>T p.S307S Substitution - coding silent 23:136708677-136708677 - TCGA-DD-A1EB-01 COSM4928770 c.1298C>G p.S433C Substitution - Missense 23:136685771-136685771 - CHC1052T COSM3668677 c.468G>A p.T156T Substitution - coding silent 23:136743778-136743778 - 3N44-VS-3T44 COSM4982361 c.843G>C p.E281D Substitution - Missense 23:136708755-136708755 - YUROC COSM5412070 c.1986G>A p.V662V Substitution - coding silent 23:136675056-136675056 - 585208 COSM324749 c.2000G>T p.C667F Substitution - Missense 23:136675042-136675042 - TCGA-CZ-5985-01 COSM488011 c.265G>A p.D89N Substitution - Missense 23:136747577-136747577 - TCGA-FW-A3R5-06 COSM755217 c.1920G>A p.S640S Substitution - coding silent 23:136676649-136676649 - TCGA-EE-A2MR-06 COSM3558322 c.1201C>T p.H401Y Substitution - Missense 23:136687976-136687976 - TCGA-CD-5801-01 COSM4106953 c.62A>C p.K21T Substitution - Missense 23:136780821-136780821 - PD6048a COSM5781752 c.1661G>C p.S554T Substitution - Missense 23:136680774-136680774 - DLD1 COSM3231727 c.705T>C p.A235A Substitution - coding silent 23:136732129-136732129 - TCGA-DU-5855-01 COSM3973301 c.595G>T p.E199* Substitution - Nonsense 23:136743651-136743651 - OSCC-GB_00200111 COSM3713862 c.499G>T p.A167S Substitution - Missense 23:136743747-136743747 - U2940 COSM5620306 c.1420T>C p.F474L Substitution - Missense 23:136682817-136682817 - CSCC-62-T COSM4526086 c.1371G>C p.M457I Substitution - Missense 23:136685698-136685698 - ESCC-078T COSM3939803 c.1430T>C p.V477A Substitution - Missense 23:136682807-136682807 - TCGA-AA-3672-01 COSM266033 c.1993G>A p.A665T Substitution - Missense 23:136675049-136675049 - 255 COSM1181076 c.828-4delT p.? Unknown 23:136708774-136708774 - TCGA-EE-A2MR-06 COSM3558319 c.1688C>T p.S563L Substitution - Missense 23:136680747-136680747 - PT21_2 COSM5902180 c.241C>T p.Q81* Substitution - Nonsense 23:136779422-136779422 - sysucc-1925T COSM5450939 c.1557T>C p.T519T Substitution - coding silent 23:136681891-136681891 - Gp5D COSM3231708 c.1948A>T p.T650S Substitution - Missense 23:136675094-136675094 - TCGA-A4-7585-01 COSM3992364 c.2051C>G p.S684C Substitution - Missense 23:136672104-136672104 - CSCC-6-T COSM4535025 c.2146G>C p.D716H Substitution - Missense 23:136669526-136669526 - TCGA-BS-A0UF-01 COSM1115815 c.250-1G>T p.? Unknown 23:136747593-136747593 - T13 COSM5345911 c.989T>C p.M330T Substitution - Missense 23:136706965-136706965 - TCGA-BS-A0UA-01 COSM1115808 c.859G>A p.G287R Substitution - Missense 23:136708739-136708739 - 587342 COSM1181076 c.828-4delT p.? Unknown 23:136708774-136708774 - 1639_T COSM3964753 c.662-3C>T p.? Unknown 23:136732175-136732175 - 8016486 COSM3390439 c.68C>G p.T23S Substitution - Missense 23:136780815-136780815 - TCGA-AP-A05N-01 COSM1115809 c.859G>T p.G287* Substitution - Nonsense 23:136708739-136708739 - TCGA-D3-A51T-06 COSM3558321 c.1399G>A p.E467K Substitution - Missense 23:136682838-136682838 - TCGA-AX-A0J0-01 COSM1115811 c.827A>C p.N276T Substitution - Missense 23:136713276-136713276 - TCGA-CM-6165-01 COSM1465885 c.747C>T p.I249I Substitution - coding silent 23:136713356-136713356 - I2L-P7-Tumor-Organoid COSM5366771 c.733-7delT p.? Unknown 23:136713377-136713377 - TCGA-B5-A11E-01 COSM204604 c.763G>T p.E255* Substitution - Nonsense 23:136713340-136713340 - C0007T COSM4154853 c.2101A>T p.T701S Substitution - Missense 23:136672054-136672054 - SNUH_G64_S1 COSM4002261 c.622T>C p.W208R Substitution - Missense 23:136743624-136743624 - PT50 COSM5937913 c.1795C>T p.P599S Substitution - Missense 23:136679570-136679570 - CHC912T COSM4951395 c.2240G>T p.R747M Substitution - Missense 23:136668120-136668120 - TCGA-EK-A3GJ-01 COSM4852324 c.1583T>C p.V528A Substitution - Missense 23:136680852-136680852 - 46M COSM5587209 c.612G>A p.G204G Substitution - coding silent 23:136743634-136743634 - 298273AML COSM1963694 c.1800_1801insT p.R601fs*1 Insertion - Frameshift 23:136679564-136679565 - TCGA-DA-A3F8-06 COSM3558323 c.346G>A p.E116K Substitution - Missense 23:136745336-136745336 - CSCC-62-T COSM4456712 c.1019C>T p.S340L Substitution - Missense 23:136706935-136706935 - TCGA-BR-8591-01 COSM4106946 c.1585C>A p.H529N Substitution - Missense 23:136680850-136680850 - TCGA-CG-5721-01 COSM3231730 c.621C>T p.G207G Substitution - coding silent 23:136743625-136743625 - tumor_4134005 COSM3357390 c.924-9T>G p.? Unknown 23:136707039-136707039 - HCC57T COSM1625551 c.459+2_459+3insT p.? Unknown 23:136745220-136745221 - LUAD-RT-S01813 COSM383680 c.445_446CA>GA p.Q149>? Complex 23:136745236-136745237 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.522795 Xq26.3 300267 2426878|CGAP|BC039856|A/T|non-coding||5207|Candidate; 2426878|CGAP|BC043505|A/T|non-coding||4711|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F30C c.89T>G X 135862953 CM A C Missense p.I408S c.1223T>G X 135770113 STAD A G 5-UTRSNV . c.1-16T>C X 135863057 STAD A G IntronicSNV . c.1852-301T>C X 135759177 PIA A G Missense p.F377L c.1129T>C X 135772825 UCEC A T Missense p.S131T c.391T>A X 135827450 LUAD A T Missense p.S488R c.1464T>A X 135764932 BRCA A T Missense p.S603T c.1807T>A X 135761717 SCLC C A Missense p.C667F c.2000G>T X 135757201 SCLC C A Missense p.D683Y c.2047G>T X 135754267 UCEC C A Missense p.S211I c.632G>T X 135825773 LUAD C A Missense p.S349I c.1046G>T X 135789067 STAD C A Missense p.W439C c.1317G>T X 135767911 THCA C A Nonsense p.E199* c.595G>T X 135825810 LGG C A Nonsense p.E694* c.2080G>T X 135754234 HNSC C A Nonsense p.G287* c.859G>T X 135790898 UCEC C A SpliceAcceptorSNV . c.1946-1G>T X 135757256 UCEC C - Frameshift p.E391Nfs*15 c.1171delG X 135772783 AML C G Missense p.A438P c.1312G>C X 135767916 BRCA CTC - InFrameDeletion p.E29delE c.85_87delGAG X 135862955 UCEC C T Missense p.A720T c.2158G>A X 135751673 STAD C T Missense p.C77Y c.230G>A X 135861592 UCEC C T Missense p.D400N c.1198G>A X 135770138 CM C T Missense p.D403N c.1207G>A X 135770129 CM C T Missense p.D89N c.265G>A X 135829736 RCCC C T Missense p.E116K c.346G>A X 135827495 CM C T Missense p.E255K c.763G>A X 135795499 HNSC C T Missense p.E664K c.1990G>A X 135757211 HNSC C T Missense p.E742K c.2224G>A X 135750295 BRCA C T Missense p.G287R c.859G>A X 135790898 UCEC C T Missense p.G494E c.1481G>A X 135764126 CM C T Missense p.G93R c.277G>A X 135829724 CM C T Missense p.M356I c.1068G>A X 135772886 CM C T Missense p.R215H c.644G>A X 135825761 LUSC C T Missense p.R392Q c.1175G>A X 135772779 LUAD C T Synonymous p.S640S c.1920G>A X 135758808 LUSC G A Missense p.L660F c.1978C>T X 135757223 CM G A Missense p.R215C c.643C>T X 135825762 GBM G A Missense p.S33F c.98C>T X 135862944 CM G A Missense p.T110I c.329C>T X 135829672 LUAD G A Nonsense p.R765* c.2293C>T X 135750226 UCEC G A Synonymous p.I45I c.135C>T X 135862907 HNSC G A Synonymous p.N134N c.402C>T X 135827439 THCA G A Synonymous p.Y188Y c.564C>T X 135825841 STAD G C Missense p.D723E c.2169C>G X 135751662 CM G C Missense p.L414V c.1240C>G X 135770096 LUAD G C Missense p.Q136E c.406C>G X 135827435 BRCA G C Missense p.Q359E c.1075C>G X 135772879 UCEC G T Missense p.A138E c.413C>A X 135827428 LUAD G T Missense p.L11I c.31C>A X 135863011 UCEC G T Missense p.P270T c.808C>A X 135795454 LUSC G T Missense p.Q402K c.1204C>A X 135770132 LUAD G T Nonsense p.Y188* c.564C>A X 135825841 LUAD G T Nonsense p.Y470* c.1410C>A X 135764986 STAD G T Synonymous p.L414L c.1242C>A X 135770094 LUAD T A Missense p.M49L c.145A>T X 135862897 LGG T A Missense p.Q687H c.2061A>T X 135754253 GBM T A Missense p.Q6H c.18A>T X 135863024 ESCA T A Nonsense p.K21* c.61A>T X 135862981 COREAD T A Synonymous p.S307S c.921A>T X 135790836 HC T C Missense p.K627R c.1880A>G X 135758848 LUAD T C Missense p.T130A c.388A>G X 135827453 HNSC T C Synonymous p.P376P c.1128A>G X 135772826 BRCA T G Missense p.K21T c.62A>C X 135862980 STAD