Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 23 117532433 117532433 + Splice_Site SNP C C A TCGA-OR-A5K9-01A-11D-A29I-10 TCGA-OR-A5K9-11A-11D-A29L-10 g.chrX:117532433C>A c.1274C>A c.(1273-1275)aCg>aAg p.T425K ACC 23 117570692 117570692 + Missense_Mutation SNP G G C TCGA-OR-A5J7-01A-11D-A29I-10 TCGA-OR-A5J7-10A-01D-A29L-10 g.chrX:117570692G>C c.1879G>C c.(1879-1881)Gat>Cat p.D627H BLCA 23 117526819 117526819 + Missense_Mutation SNP A A T TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chrX:117526819A>T c.411A>T c.(409-411)ttA>ttT p.L137F BLCA 23 117527216 117527216 + Missense_Mutation SNP A A G TCGA-KQ-A41N-01A-11D-A339-08 TCGA-KQ-A41N-10D-01D-A339-08 g.chrX:117527216A>G c.808A>G c.(808-810)Aaa>Gaa p.K270E BLCA 23 117543582 117543582 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chrX:117543582A>G c.1664A>G c.(1663-1665)aAt>aGt p.N555S BLCA 23 117566847 117566847 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chrX:117566847C>T c.1841C>T c.(1840-1842)tCa>tTa p.S614L BLCA 23 117570746 117570746 + Missense_Mutation SNP C C G TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chrX:117570746C>G c.1933C>G c.(1933-1935)Caa>Gaa p.Q645E BLCA 23 117576206 117576206 + Splice_Site SNP G G T TCGA-ZF-A9RG-01A-21D-A42E-08 TCGA-ZF-A9RG-10A-01D-A42H-08 g.chrX:117576206G>T c.e16-1 BLCA 23 117576550 117576550 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chrX:117576550C>G c.2291C>G c.(2290-2292)tCc>tGc p.S764C BLCA 23 117578406 117578406 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 g.chrX:117578406G>A c.2596G>A c.(2596-2598)Gaa>Aaa p.E866K BLCA 23 117578414 117578414 + Missense_Mutation SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 g.chrX:117578414C>G c.2604C>G c.(2602-2604)aaC>aaG p.N868K BRCA 23 117521341 117521341 + Silent SNP C C T TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 g.chrX:117521341C>T c.150C>T c.(148-150)tcC>tcT p.S50S BRCA 23 117527021 117527021 + Missense_Mutation SNP G G A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 g.chrX:117527021G>A c.613G>A c.(613-615)Gct>Act p.A205T BRCA 23 117527075 117527075 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chrX:117527075G>C c.667G>C c.(667-669)Gat>Cat p.D223H BRCA 23 117527137 117527137 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chrX:117527137A>C c.729A>C c.(727-729)ccA>ccC p.P243P BRCA 23 117528092 117528092 + Nonsense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chrX:117528092C>T c.901C>T c.(901-903)Cag>Tag p.Q301* BRCA 23 117529291 117529291 + Missense_Mutation SNP G G C TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 g.chrX:117529291G>C c.1037G>C c.(1036-1038)aGa>aCa p.R346T BRCA 23 117540916 117540916 + Missense_Mutation SNP C C T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 g.chrX:117540916C>T c.1460C>T c.(1459-1461)gCa>gTa p.A487V BRCA 23 117566792 117566792 + Missense_Mutation SNP C C T TCGA-AR-A5QP-01A-11D-A28B-09 TCGA-AR-A5QP-10A-01D-A28E-09 g.chrX:117566792C>T c.1786C>T c.(1786-1788)Cgg>Tgg p.R596W BRCA 23 117570666 117570666 + Splice_Site SNP A A G TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chrX:117570666A>G c.1853A>G c.(1852-1854)aAc>aGc p.N618S BRCA 23 117570720 117570720 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chrX:117570720C>A c.1907C>A c.(1906-1908)tCt>tAt p.S636Y BRCA 23 117570782 117570782 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chrX:117570782C>G c.1969C>G c.(1969-1971)Cca>Gca p.P657A BRCA 23 117570786 117570786 + Splice_Site SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chrX:117570786G>C c.1973G>C c.(1972-1974)aGa>aCa p.R658T BRCA 23 117575415 117575415 + Nonsense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chrX:117575415G>T c.2059G>T c.(2059-2061)Gaa>Taa p.E687* BRCA 23 117577583 117577583 + Silent SNP C C G TCGA-AO-A1KS-01A-11D-A13L-09 TCGA-AO-A1KS-10A-01W-A14R-09 g.chrX:117577583C>G c.2445C>G c.(2443-2445)acC>acG p.T815T BRCA 23 117578415 117578415 + Missense_Mutation SNP G G A TCGA-EW-A1IY-01A-11D-A188-09 TCGA-EW-A1IY-10A-01D-A13O-09 g.chrX:117578415G>A c.2605G>A c.(2605-2607)Gag>Aag p.E869K CESC 23 117528026 117528026 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chrX:117528026G>C c.835G>C c.(835-837)Gag>Cag p.E279Q CESC 23 117528059 117528059 + Missense_Mutation SNP A A G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chrX:117528059A>G c.868A>G c.(868-870)Agc>Ggc p.S290G CESC 23 117532408 117532408 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chrX:117532408G>A c.1249G>A c.(1249-1251)Gat>Aat p.D417N CHOL 23 117480529 117480529 + Silent SNP C C T TCGA-ZH-A8Y6-01A-11D-A417-09 TCGA-ZH-A8Y6-10A-01D-A41A-09 g.chrX:117480529C>T c.63C>T c.(61-63)ggC>ggT p.G21G COAD 23 117526614 117526614 + Missense_Mutation SNP A A G TCGA-DM-A1D8-01A-11D-A152-10 TCGA-DM-A1D8-10A-01D-A152-10 g.chrX:117526614A>G c.206A>G c.(205-207)gAg>gGg p.E69G COAD 23 117526615 117526615 + Missense_Mutation SNP G G T TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chrX:117526615G>T c.207G>T c.(205-207)gaG>gaT p.E69D COAD 23 117526615 117526615 + Silent SNP G G A TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chrX:117526615G>A c.207G>A c.(205-207)gaG>gaA p.E69E COAD 23 117527095 117527095 + Silent SNP G G A TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chrX:117527095G>A c.687G>A c.(685-687)aaG>aaA p.K229K COAD 23 117527155 117527155 + Silent SNP T T G TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chrX:117527155T>G c.747T>G c.(745-747)ccT>ccG p.P249P COAD 23 117527164 117527164 + Silent SNP A A G TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chrX:117527164A>G c.756A>G c.(754-756)cgA>cgG p.R252R COAD 23 117532357 117532357 + Missense_Mutation SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chrX:117532357G>A c.1198G>A c.(1198-1200)Gcg>Acg p.A400T COAD 23 117543546 117543546 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:117543546C>T c.1628C>T c.(1627-1629)gCt>gTt p.A543V COAD 23 117544906 117544906 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chrX:117544906C>T c.1721C>T c.(1720-1722)tCg>tTg p.S574L COAD 23 117570667 117570667 + Silent SNP C C T TCGA-AD-6965-01A-11D-1924-10 TCGA-AD-6965-10A-01D-1924-10 g.chrX:117570667C>T c.1854C>T c.(1852-1854)aaC>aaT p.N618N COAD 23 117575373 117575373 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chrX:117575373C>T c.2017C>T c.(2017-2019)Cgc>Tgc p.R673C COAD 23 117576247 117576247 + Missense_Mutation SNP G G T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chrX:117576247G>T c.2207G>T c.(2206-2208)aGa>aTa p.R736I COAD 23 117576281 117576281 + Silent SNP C C T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chrX:117576281C>T c.2241C>T c.(2239-2241)ggC>ggT p.G747G COADREAD 23 117526614 117526614 + Missense_Mutation SNP A A G TCGA-DM-A1D8-01A-11D-A152-10 TCGA-DM-A1D8-10A-01D-A152-10 g.chrX:117526614A>G c.206A>G c.(205-207)gAg>gGg p.E69G COADREAD 23 117526615 117526615 + Missense_Mutation SNP G G T TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chrX:117526615G>T c.207G>T c.(205-207)gaG>gaT p.E69D COADREAD 23 117526615 117526615 + Silent SNP G G A TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chrX:117526615G>A c.207G>A c.(205-207)gaG>gaA p.E69E COADREAD 23 117527095 117527095 + Silent SNP G G A TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chrX:117527095G>A c.687G>A c.(685-687)aaG>aaA p.K229K COADREAD 23 117527155 117527155 + Silent SNP T T G TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chrX:117527155T>G c.747T>G c.(745-747)ccT>ccG p.P249P COADREAD 23 117527157 117527157 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:117527157C>A c.749C>A c.(748-750)cCt>cAt p.P250H COADREAD 23 117527164 117527164 + Silent SNP A A G TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chrX:117527164A>G c.756A>G c.(754-756)cgA>cgG p.R252R COADREAD 23 117532357 117532357 + Missense_Mutation SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chrX:117532357G>A c.1198G>A c.(1198-1200)Gcg>Acg p.A400T COADREAD 23 117543546 117543546 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:117543546C>T c.1628C>T c.(1627-1629)gCt>gTt p.A543V COADREAD 23 117544906 117544906 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chrX:117544906C>T c.1721C>T c.(1720-1722)tCg>tTg p.S574L COADREAD 23 117570667 117570667 + Silent SNP C C T TCGA-AD-6965-01A-11D-1924-10 TCGA-AD-6965-10A-01D-1924-10 g.chrX:117570667C>T c.1854C>T c.(1852-1854)aaC>aaT p.N618N COADREAD 23 117575373 117575373 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chrX:117575373C>T c.2017C>T c.(2017-2019)Cgc>Tgc p.R673C COADREAD 23 117576246 117576246 + Missense_Mutation SNP A A G TCGA-DY-A1DF-01A-11D-A152-10 TCGA-DY-A1DF-10A-01D-A152-10 g.chrX:117576246A>G c.2206A>G c.(2206-2208)Aga>Gga p.R736G COADREAD 23 117576247 117576247 + Missense_Mutation SNP G G T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chrX:117576247G>T c.2207G>T c.(2206-2208)aGa>aTa p.R736I COADREAD 23 117576281 117576281 + Silent SNP C C T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chrX:117576281C>T c.2241C>T c.(2239-2241)ggC>ggT p.G747G GBM 23 117527112 117527112 + Missense_Mutation SNP G G A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 g.chrX:117527112G>A c.704G>A c.(703-705)cGc>cAc p.R235H GBMLGG 23 117527112 117527112 + Missense_Mutation SNP G G A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 g.chrX:117527112G>A c.704G>A c.(703-705)cGc>cAc p.R235H GBMLGG 23 117527112 117527112 + Missense_Mutation SNP G G A TCGA-HW-7495-01A-11D-2024-08 TCGA-HW-7495-10A-01D-2024-08 g.chrX:117527112G>A c.704G>A c.(703-705)cGc>cAc p.R235H GBMLGG 23 117528036 117528036 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:117528036C>T c.845C>T c.(844-846)aCg>aTg p.T282M GBMLGG 23 117582883 117582885 + In_Frame_Del DEL TTC TTC - TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 g.chrX:117582883_117582885delTTC c.2675_2677delTTC c.(2674-2679)gttctt>gtt p.L894del HNSC 23 117526618 117526618 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 g.chrX:117526618G>C c.210G>C c.(208-210)gaG>gaC p.E70D HNSC 23 117526862 117526862 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 g.chrX:117526862G>C c.454G>C c.(454-456)Gat>Cat p.D152H HNSC 23 117527030 117527030 + Nonsense_Mutation SNP G G T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 g.chrX:117527030G>T c.622G>T c.(622-624)Gaa>Taa p.E208* HNSC 23 117527102 117527102 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 g.chrX:117527102G>A c.694G>A c.(694-696)Gtt>Att p.V232I HNSC 23 117527109 117527109 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 g.chrX:117527109C>T c.701C>T c.(700-702)gCa>gTa p.A234V HNSC 23 117530989 117530989 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chrX:117530989G>C c.1110G>C c.(1108-1110)ttG>ttC p.L370F HNSC 23 117532358 117532358 + Missense_Mutation SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 g.chrX:117532358C>T c.1199C>T c.(1198-1200)gCg>gTg p.A400V HNSC 23 117538393 117538393 + Missense_Mutation SNP G G C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 g.chrX:117538393G>C c.1367G>C c.(1366-1368)aGt>aCt p.S456T HNSC 23 117575441 117575441 + Missense_Mutation SNP C C G TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 g.chrX:117575441C>G c.2085C>G c.(2083-2085)atC>atG p.I695M HNSC 23 117578415 117578415 + Missense_Mutation SNP G G A TCGA-CV-7429-01A-11D-2129-08 TCGA-CV-7429-10A-01D-2129-08 g.chrX:117578415G>A c.2605G>A c.(2605-2607)Gag>Aag p.E869K HNSC 23 117582899 117582899 + Silent SNP C C T TCGA-UF-A7JD-01A-11D-A34J-08 TCGA-UF-A7JD-10A-01D-A34M-08 g.chrX:117582899C>T c.2691C>T c.(2689-2691)gaC>gaT p.D897D HNSC 23 117582909 117582909 + Missense_Mutation SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 g.chrX:117582909G>A c.2701G>A c.(2701-2703)Gca>Aca p.A901T KIPAN 23 117526750 117526750 + Missense_Mutation SNP T T G TCGA-GL-7773-01A-11D-2136-08 TCGA-GL-7773-10A-01D-2136-08 g.chrX:117526750T>G c.342T>G c.(340-342)gaT>gaG p.D114E KIPAN 23 117526785 117526785 + Missense_Mutation SNP G G C TCGA-MH-A854-01A-11D-A34Z-10 TCGA-MH-A854-10A-01D-A34Z-10 g.chrX:117526785G>C c.377G>C c.(376-378)aGt>aCt p.S126T KIPAN 23 117526809 117526809 + Frame_Shift_Del DEL A A - TCGA-MH-A854-01A-11D-A34Z-10 TCGA-MH-A854-10A-01D-A34Z-10 g.chrX:117526809delA c.401delA c.(400-402)gaafs p.E134fs KIRP 23 117526750 117526750 + Missense_Mutation SNP T T G TCGA-GL-7773-01A-11D-2136-08 TCGA-GL-7773-10A-01D-2136-08 g.chrX:117526750T>G c.342T>G c.(340-342)gaT>gaG p.D114E KIRP 23 117526785 117526785 + Missense_Mutation SNP G G C TCGA-MH-A854-01A-11D-A34Z-10 TCGA-MH-A854-10A-01D-A34Z-10 g.chrX:117526785G>C c.377G>C c.(376-378)aGt>aCt p.S126T KIRP 23 117526809 117526809 + Frame_Shift_Del DEL A A - TCGA-MH-A854-01A-11D-A34Z-10 TCGA-MH-A854-10A-01D-A34Z-10 g.chrX:117526809delA c.401delA c.(400-402)gaafs p.E134fs LGG 23 117527112 117527112 + Missense_Mutation SNP G G A TCGA-HW-7495-01A-11D-2024-08 TCGA-HW-7495-10A-01D-2024-08 g.chrX:117527112G>A c.704G>A c.(703-705)cGc>cAc p.R235H LGG 23 117528036 117528036 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:117528036C>T c.845C>T c.(844-846)aCg>aTg p.T282M LGG 23 117582883 117582885 + In_Frame_Del DEL TTC TTC - TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 g.chrX:117582883_117582885delTTC c.2675_2677delTTC c.(2674-2679)gttctt>gtt p.L894del LIHC 23 117528110 117528110 + Missense_Mutation SNP G G T TCGA-BC-A112-01A-11D-A12Z-10 TCGA-BC-A112-11A-11D-A12Z-10 g.chrX:117528110G>T c.919G>T c.(919-921)Gca>Tca p.A307S LIHC 23 117570751 117570751 + Missense_Mutation SNP T T A TCGA-DD-AAE7-01A-11D-A40R-10 TCGA-DD-AAE7-10A-01D-A40U-10 g.chrX:117570751T>A c.1938T>A c.(1936-1938)caT>caA p.H646Q LUAD 23 117526694 117526694 + Missense_Mutation SNP A A C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 g.chrX:117526694A>C c.286A>C c.(286-288)Agt>Cgt p.S96R LUAD 23 117526804 117526804 + Silent SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 g.chrX:117526804G>A c.396G>A c.(394-396)gaG>gaA p.E132E LUAD 23 117527114 117527114 + Missense_Mutation SNP C C A TCGA-MP-A4T4-01A-11D-A25L-08 TCGA-MP-A4T4-10A-01D-A25L-08 g.chrX:117527114C>A c.706C>A c.(706-708)Cca>Aca p.P236T LUAD 23 117528039 117528039 + Missense_Mutation SNP C C G TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chrX:117528039C>G c.848C>G c.(847-849)tCt>tGt p.S283C LUAD 23 117530973 117530973 + Missense_Mutation SNP G G T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chrX:117530973G>T c.1094G>T c.(1093-1095)gGa>gTa p.G365V LUAD 23 117532434 117532434 + Splice_Site SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 g.chrX:117532434G>C c.e8+1 LUAD 23 117538407 117538407 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chrX:117538407G>T c.1381G>T c.(1381-1383)Gtg>Ttg p.V461L LUAD 23 117540866 117540866 + Silent SNP A A C TCGA-17-Z023-01A-01W-0746-08 TCGA-17-Z023-11A-01W-0746-08 g.chrX:117540866A>C c.1410A>C c.(1408-1410)tcA>tcC p.S470S LUAD 23 117540951 117540951 + Missense_Mutation SNP C C G TCGA-MP-A4T4-01A-11D-A25L-08 TCGA-MP-A4T4-10A-01D-A25L-08 g.chrX:117540951C>G c.1495C>G c.(1495-1497)Cag>Gag p.Q499E LUAD 23 117543510 117543510 + Missense_Mutation SNP A A T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 g.chrX:117543510A>T c.1592A>T c.(1591-1593)cAa>cTa p.Q531L LUAD 23 117566802 117566802 + Missense_Mutation SNP C C A TCGA-44-7661-01A-11D-2063-08 TCGA-44-7661-10A-01D-2063-08 g.chrX:117566802C>A c.1796C>A c.(1795-1797)cCa>cAa p.P599Q LUAD 23 117570673 117570673 + Silent SNP T T C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 g.chrX:117570673T>C c.1860T>C c.(1858-1860)ttT>ttC p.F620F LUAD 23 117570726 117570726 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 g.chrX:117570726G>C c.1913G>C c.(1912-1914)aGa>aCa p.R638T LUAD 23 117577637 117577637 + Nonsense_Mutation SNP G G A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chrX:117577637G>A c.2499G>A c.(2497-2499)tgG>tgA p.W833* LUSC 23 117527019 117527019 + Missense_Mutation SNP C C G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 g.chrX:117527019C>G c.611C>G c.(610-612)gCc>gGc p.A204G LUSC 23 117540902 117540902 + Silent SNP A A G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 g.chrX:117540902A>G c.1446A>G c.(1444-1446)ccA>ccG p.P482P LUSC 23 117540953 117540953 + Missense_Mutation SNP G G T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 g.chrX:117540953G>T c.1497G>T c.(1495-1497)caG>caT p.Q499H LUSC 23 117566799 117566799 + Missense_Mutation SNP G G C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 g.chrX:117566799G>C c.1793G>C c.(1792-1794)cGg>cCg p.R598P LUSC 23 117576644 117576644 + Splice_Site SNP G G T TCGA-21-5784-01A-01D-1632-08 TCGA-21-5784-10A-01D-1632-08 g.chrX:117576644G>T c.e17+1 OV 23 117527021 117527021 + Missense_Mutation SNP G G A TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 g.chrX:117527021G>A c.613G>A c.(613-615)Gct>Act p.A205T PAAD 23 117527019 117527019 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 g.chrX:117527019C>T c.611C>T c.(610-612)gCc>gTc p.A204V PRAD 23 117532360 117532360 + Missense_Mutation SNP G G A TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 g.chrX:117532360G>A c.1201G>A c.(1201-1203)Gca>Aca p.A401T READ 23 117527157 117527157 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:117527157C>A c.749C>A c.(748-750)cCt>cAt p.P250H READ 23 117576246 117576246 + Missense_Mutation SNP A A G TCGA-DY-A1DF-01A-11D-A152-10 TCGA-DY-A1DF-10A-01D-A152-10 g.chrX:117576246A>G c.2206A>G c.(2206-2208)Aga>Gga p.R736G SKCM 23 117526644 117526644 + Missense_Mutation SNP A A C TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 g.chrX:117526644A>C c.236A>C c.(235-237)gAt>gCt p.D79A SKCM 23 117526915 117526915 + Silent SNP T T G TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chrX:117526915T>G c.507T>G c.(505-507)ctT>ctG p.L169L SKCM 23 117527160 117527160 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chrX:117527160C>T c.752C>T c.(751-753)tCt>tTt p.S251F SKCM 23 117527161 117527161 + Silent SNP T T A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chrX:117527161T>A c.753T>A c.(751-753)tcT>tcA p.S251S SKCM 23 117528104 117528104 + Missense_Mutation SNP G G A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chrX:117528104G>A c.913G>A c.(913-915)Gat>Aat p.D305N SKCM 23 117529212 117529212 + Splice_Site SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chrX:117529212G>A c.958G>A c.(958-960)Gaa>Aaa p.E320K SKCM 23 117529212 117529212 + Splice_Site SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chrX:117529212G>A c.958G>A c.(958-960)Gaa>Aaa p.E320K SKCM 23 117531026 117531026 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chrX:117531026C>T c.1147C>T c.(1147-1149)Cct>Tct p.P383S SKCM 23 117532377 117532377 + Silent SNP A A G TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chrX:117532377A>G c.1218A>G c.(1216-1218)gaA>gaG p.E406E SKCM 23 117566802 117566802 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:117566802C>T c.1796C>T c.(1795-1797)cCa>cTa p.P599L SKCM 23 117576557 117576557 + Silent SNP C C T TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chrX:117576557C>T c.2298C>T c.(2296-2298)atC>atT p.I766I SKCM 23 117576579 117576579 + Missense_Mutation SNP T T A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chrX:117576579T>A c.2320T>A c.(2320-2322)Ttg>Atg p.L774M

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN X 117543450 117543450 single base substitution A G splice_acceptor_variant BLCA-US X 117543582 117543582 single base substitution A G missense_variant N454S 1361A>G BLCA-US X 117543582 117543582 single base substitution A G missense_variant N530S 1589A>G BLCA-US X 117543582 117543582 single base substitution A G missense_variant N555S 1664A>G BLCA-US X 117566847 117566847 single base substitution C T missense_variant S513L 1538C>T BLCA-US X 117566847 117566847 single base substitution C T missense_variant S589L 1766C>T BLCA-US X 117566847 117566847 single base substitution C T missense_variant S614L 1841C>T BLCA-US X 117576550 117576550 single base substitution C G missense_variant S663C 1988C>G BLCA-US X 117576550 117576550 single base substitution C G missense_variant S675C 2024C>G BLCA-US X 117576550 117576550 single base substitution C G missense_variant S764C 2291C>G BLCA-US X 117578414 117578414 single base substitution C G missense_variant N767K 2301C>G BLCA-US X 117578414 117578414 single base substitution C G missense_variant N779K 2337C>G BLCA-US X 117578414 117578414 single base substitution C G missense_variant N860K 2580C>G BLCA-US X 117578414 117578414 single base substitution C G missense_variant N868K 2604C>G BOCA-FR X 117494271 117494271 single base substitution T G intron_variant BOCA-FR X 117494572 117494572 single base substitution A T intron_variant BOCA-FR X 117556708 117556708 single base substitution G T intron_variant BRCA-EU X 117475376 117475376 single base substitution G A upstream_gene_variant BRCA-EU X 117476137 117476137 single base substitution G A upstream_gene_variant BRCA-EU X 117476753 117476753 single base substitution G A upstream_gene_variant BRCA-EU X 117477313 117477313 single base substitution A C upstream_gene_variant BRCA-EU X 117478329 117478329 single base substitution C A upstream_gene_variant BRCA-EU X 117478733 117478733 single base substitution G C upstream_gene_variant BRCA-EU X 117479107 117479107 single base substitution C G upstream_gene_variant BRCA-EU X 117479333 117479333 single base substitution A C upstream_gene_variant BRCA-EU X 117481719 117481719 single base substitution G A intron_variant BRCA-EU X 117485672 117485672 single base substitution G A intron_variant BRCA-EU X 117487598 117487598 single base substitution C G intron_variant BRCA-EU X 117487820 117487820 single base substitution A G intron_variant BRCA-EU X 117491996 117491996 single base substitution C T intron_variant BRCA-EU X 117492327 117492327 single base substitution A T intron_variant BRCA-EU X 117492526 117492526 single base substitution G T intron_variant BRCA-EU X 117492617 117492617 single base substitution G A intron_variant BRCA-EU X 117494913 117494913 single base substitution G C intron_variant BRCA-EU X 117495561 117495561 insertion of <=200bp - A intron_variant BRCA-EU X 117495717 117495717 deletion of <=200bp A - intron_variant BRCA-EU X 117495717 117495717 insertion of <=200bp - A intron_variant BRCA-EU X 117497470 117497470 single base substitution A C intron_variant BRCA-EU X 117499243 117499243 single base substitution G A intron_variant BRCA-EU X 117499767 117499767 single base substitution C T intron_variant BRCA-EU X 117499960 117499960 single base substitution G T intron_variant BRCA-EU X 117501319 117501319 insertion of <=200bp - TG intron_variant BRCA-EU X 117501784 117501784 deletion of <=200bp A - intron_variant BRCA-EU X 117502929 117502929 single base substitution A G intron_variant BRCA-EU X 117503273 117503273 single base substitution T A intron_variant BRCA-EU X 117504307 117504307 single base substitution G A intron_variant BRCA-EU X 117504360 117504360 single base substitution G A intron_variant BRCA-EU X 117508244 117508244 insertion of <=200bp - T intron_variant BRCA-EU X 117509644 117509644 single base substitution G C intron_variant BRCA-EU X 117510698 117510698 single base substitution G A intron_variant BRCA-EU X 117511087 117511087 single base substitution G A intron_variant BRCA-EU X 117512133 117512133 single base substitution C A intron_variant BRCA-EU X 117512577 117512577 single base substitution T C intron_variant BRCA-EU X 117513083 117513083 single base substitution C T intron_variant BRCA-EU X 117513575 117513575 single base substitution C G intron_variant BRCA-EU X 117514008 117514008 single base substitution T A intron_variant BRCA-EU X 117514098 117514098 single base substitution A C intron_variant BRCA-EU X 117515202 117515202 single base substitution C T intron_variant BRCA-EU X 117515437 117515437 single base substitution A T intron_variant BRCA-EU X 117515799 117515799 single base substitution T C intron_variant BRCA-EU X 117516769 117516769 single base substitution A C intron_variant BRCA-EU X 117516807 117516807 single base substitution G C intron_variant BRCA-EU X 117517299 117517299 single base substitution A G intron_variant BRCA-EU X 117518780 117518780 single base substitution A G intron_variant BRCA-EU X 117519791 117519791 single base substitution G A intron_variant BRCA-EU X 117520806 117520806 deletion of <=200bp C - intron_variant BRCA-EU X 117522805 117522819 deletion of <=200bp TTACCATTTTTAGAT - intron_variant BRCA-EU X 117522805 117522819 deletion of <=200bp TTACCATTTTTAGAT - upstream_gene_variant BRCA-EU X 117523018 117523018 deletion of <=200bp A - intron_variant BRCA-EU X 117523018 117523018 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 117524191 117524191 single base substitution A T intron_variant BRCA-EU X 117524191 117524191 single base substitution A T upstream_gene_variant BRCA-EU X 117524387 117524387 single base substitution T A intron_variant BRCA-EU X 117524387 117524387 single base substitution T A upstream_gene_variant BRCA-EU X 117524635 117524635 single base substitution T G intron_variant BRCA-EU X 117524635 117524635 single base substitution T G upstream_gene_variant BRCA-EU X 117524637 117524637 single base substitution C T intron_variant BRCA-EU X 117524637 117524637 single base substitution C T upstream_gene_variant BRCA-EU X 117525426 117525426 single base substitution C T intron_variant BRCA-EU X 117525426 117525426 single base substitution C T upstream_gene_variant BRCA-EU X 117525861 117525861 single base substitution G C intron_variant BRCA-EU X 117525861 117525861 single base substitution G C upstream_gene_variant BRCA-EU X 117525881 117525881 single base substitution G T intron_variant BRCA-EU X 117525881 117525881 single base substitution G T upstream_gene_variant BRCA-EU X 117526567 117526567 single base substitution T C intron_variant BRCA-EU X 117526567 117526567 single base substitution T C upstream_gene_variant BRCA-EU X 117527294 117527294 single base substitution C G downstream_gene_variant BRCA-EU X 117527294 117527294 single base substitution C G intron_variant BRCA-EU X 117527569 117527569 single base substitution A G downstream_gene_variant BRCA-EU X 117527569 117527569 single base substitution A G intron_variant BRCA-EU X 117527857 117527857 single base substitution T C downstream_gene_variant BRCA-EU X 117527857 117527857 single base substitution T C intron_variant BRCA-EU X 117527941 117527941 single base substitution G T downstream_gene_variant BRCA-EU X 117527941 117527941 single base substitution G T intron_variant BRCA-EU X 117529598 117529598 single base substitution C T downstream_gene_variant BRCA-EU X 117529598 117529598 single base substitution C T intron_variant BRCA-EU X 117529613 117529613 single base substitution G C downstream_gene_variant BRCA-EU X 117529613 117529613 single base substitution G C intron_variant BRCA-EU X 117529803 117529803 single base substitution T C downstream_gene_variant BRCA-EU X 117529803 117529803 single base substitution T C intron_variant BRCA-EU X 117530056 117530056 single base substitution A T downstream_gene_variant BRCA-EU X 117530056 117530056 single base substitution A T intron_variant BRCA-EU X 117530374 117530374 single base substitution C T downstream_gene_variant BRCA-EU X 117530374 117530374 single base substitution C T intron_variant BRCA-EU X 117532957 117532957 single base substitution G T intron_variant BRCA-EU X 117532967 117532967 single base substitution A G intron_variant BRCA-EU X 117534022 117534022 single base substitution G A intron_variant BRCA-EU X 117534161 117534161 single base substitution G A intron_variant BRCA-EU X 117534512 117534512 single base substitution A C intron_variant BRCA-EU X 117534777 117534777 single base substitution C T intron_variant BRCA-EU X 117535683 117535683 single base substitution G T intron_variant BRCA-EU X 117535967 117535967 insertion of <=200bp - T intron_variant BRCA-EU X 117536249 117536249 single base substitution T A intron_variant BRCA-EU X 117536294 117536294 single base substitution A G intron_variant BRCA-EU X 117536674 117536674 single base substitution G A intron_variant BRCA-EU X 117536674 117536674 single base substitution G T intron_variant BRCA-EU X 117536675 117536675 single base substitution C T intron_variant BRCA-EU X 117538690 117538690 single base substitution G T intron_variant BRCA-EU X 117539035 117539035 single base substitution G C intron_variant BRCA-EU X 117542658 117542658 single base substitution G A intron_variant BRCA-EU X 117542791 117542791 single base substitution C T intron_variant BRCA-EU X 117544102 117544102 single base substitution A G intron_variant BRCA-EU X 117544412 117544412 single base substitution G C intron_variant BRCA-EU X 117545679 117545679 single base substitution G A intron_variant BRCA-EU X 117546865 117546865 single base substitution G A intron_variant BRCA-EU X 117547006 117547006 single base substitution G A intron_variant BRCA-EU X 117547974 117547974 single base substitution C A intron_variant BRCA-EU X 117548928 117548928 single base substitution G A intron_variant BRCA-EU X 117548968 117548968 deletion of <=200bp G - intron_variant BRCA-EU X 117550646 117550646 insertion of <=200bp - TA intron_variant BRCA-EU X 117551312 117551312 single base substitution G A intron_variant BRCA-EU X 117551934 117551934 single base substitution T C intron_variant BRCA-EU X 117552074 117552074 single base substitution C T intron_variant BRCA-EU X 117552305 117552305 single base substitution C T intron_variant BRCA-EU X 117552951 117552951 single base substitution C T intron_variant BRCA-EU X 117553440 117553440 single base substitution G C intron_variant BRCA-EU X 117555647 117555647 single base substitution G C intron_variant BRCA-EU X 117555755 117555755 single base substitution A T intron_variant BRCA-EU X 117555756 117555756 single base substitution A C intron_variant BRCA-EU X 117555784 117555784 single base substitution C G intron_variant BRCA-EU X 117557057 117557057 single base substitution T A intron_variant BRCA-EU X 117557492 117557492 single base substitution A T intron_variant BRCA-EU X 117560596 117560596 single base substitution G A intron_variant BRCA-EU X 117561027 117561027 single base substitution G A intron_variant BRCA-EU X 117562959 117562959 single base substitution G T intron_variant BRCA-EU X 117563192 117563192 deletion of <=200bp A - intron_variant BRCA-EU X 117563881 117563881 single base substitution C T intron_variant BRCA-EU X 117565808 117565808 single base substitution C T intron_variant BRCA-EU X 117565819 117565819 single base substitution T C intron_variant BRCA-EU X 117565947 117565947 single base substitution A T intron_variant BRCA-EU X 117566363 117566363 single base substitution C T intron_variant BRCA-EU X 117569004 117569004 single base substitution G C intron_variant BRCA-EU X 117569632 117569632 single base substitution T C intron_variant BRCA-EU X 117569700 117569700 single base substitution G A intron_variant BRCA-EU X 117570301 117570301 single base substitution T C intron_variant BRCA-EU X 117572218 117572218 single base substitution C T intron_variant BRCA-EU X 117573538 117573538 single base substitution C G intron_variant BRCA-EU X 117573539 117573539 deletion of <=200bp A - intron_variant BRCA-EU X 117573539 117573539 insertion of <=200bp - A intron_variant BRCA-EU X 117575885 117575885 single base substitution G T intron_variant BRCA-EU X 117576005 117576005 insertion of <=200bp - A intron_variant BRCA-EU X 117576030 117576030 single base substitution A T intron_variant BRCA-EU X 117576279 117576279 single base substitution G C missense_variant G646R 1936G>C BRCA-EU X 117576279 117576279 single base substitution G C missense_variant G658R 1972G>C BRCA-EU X 117576279 117576279 single base substitution G C missense_variant G747R 2239G>C BRCA-EU X 117577379 117577379 single base substitution G C intron_variant BRCA-EU X 117577541 117577541 single base substitution C A splice_region_variant BRCA-EU X 117577541 117577541 single base substitution C A synonymous_variant L700L 2100C>A BRCA-EU X 117577541 117577541 single base substitution C A synonymous_variant L712L 2136C>A BRCA-EU X 117577541 117577541 single base substitution C A synonymous_variant L801L 2403C>A BRCA-EU X 117578424 117578424 single base substitution G C missense_variant E771Q 2311G>C BRCA-EU X 117578424 117578424 single base substitution G C missense_variant E783Q 2347G>C BRCA-EU X 117578424 117578424 single base substitution G C missense_variant E864Q 2590G>C BRCA-EU X 117578424 117578424 single base substitution G C missense_variant E872Q 2614G>C BRCA-EU X 117579757 117579757 single base substitution C A intron_variant BRCA-EU X 117579929 117579929 single base substitution G T intron_variant BRCA-EU X 117580088 117580088 single base substitution C G intron_variant BRCA-EU X 117583413 117583413 single base substitution T G 3_prime_UTR_variant BRCA-EU X 117583413 117583413 single base substitution T G downstream_gene_variant BRCA-EU X 117583668 117583668 single base substitution A G 3_prime_UTR_variant BRCA-EU X 117583668 117583668 single base substitution A G downstream_gene_variant BRCA-EU X 117583700 117583700 single base substitution G A 3_prime_UTR_variant BRCA-EU X 117583700 117583700 single base substitution G A downstream_gene_variant BRCA-EU X 117584488 117584488 single base substitution T C downstream_gene_variant BRCA-EU X 117584623 117584623 single base substitution T G downstream_gene_variant BRCA-EU X 117584643 117584643 single base substitution A G downstream_gene_variant BRCA-EU X 117585814 117585814 single base substitution A G downstream_gene_variant BRCA-EU X 117586212 117586212 single base substitution G A downstream_gene_variant BRCA-EU X 117586818 117586818 single base substitution G T downstream_gene_variant BRCA-EU X 117586994 117586994 single base substitution G C downstream_gene_variant BRCA-EU X 117587720 117587720 deletion of <=200bp A - downstream_gene_variant BRCA-EU X 117588785 117588785 single base substitution A C downstream_gene_variant BRCA-FR X 117475376 117475376 single base substitution G A upstream_gene_variant BRCA-FR X 117476137 117476137 single base substitution G A upstream_gene_variant BRCA-FR X 117479981 117479981 single base substitution G A upstream_gene_variant BRCA-FR X 117488655 117488655 single base substitution G A intron_variant BRCA-FR X 117492617 117492617 single base substitution G A intron_variant BRCA-FR X 117499243 117499243 single base substitution G A intron_variant BRCA-FR X 117499960 117499960 single base substitution G T intron_variant BRCA-FR X 117512984 117512984 single base substitution G T intron_variant BRCA-FR X 117513556 117513556 single base substitution T C intron_variant BRCA-FR X 117515437 117515437 single base substitution A T intron_variant BRCA-FR X 117516807 117516807 single base substitution G C intron_variant BRCA-FR X 117524637 117524637 single base substitution C T intron_variant BRCA-FR X 117524637 117524637 single base substitution C T upstream_gene_variant BRCA-FR X 117526567 117526567 single base substitution T C intron_variant BRCA-FR X 117526567 117526567 single base substitution T C upstream_gene_variant BRCA-FR X 117530056 117530056 single base substitution A T downstream_gene_variant BRCA-FR X 117530056 117530056 single base substitution A T intron_variant BRCA-FR X 117530374 117530374 single base substitution C T downstream_gene_variant BRCA-FR X 117530374 117530374 single base substitution C T intron_variant BRCA-FR X 117534161 117534161 single base substitution G A intron_variant BRCA-FR X 117536674 117536674 single base substitution G A intron_variant BRCA-FR X 117538101 117538101 single base substitution G T intron_variant BRCA-FR X 117547006 117547006 single base substitution G A intron_variant BRCA-FR X 117547974 117547974 single base substitution C A intron_variant BRCA-FR X 117551312 117551312 single base substitution G A intron_variant BRCA-FR X 117562959 117562959 single base substitution G T intron_variant BRCA-FR X 117566363 117566363 single base substitution C T intron_variant BRCA-FR X 117573538 117573538 single base substitution C G intron_variant BRCA-FR X 117583109 117583109 single base substitution T C 3_prime_UTR_variant BRCA-FR X 117584488 117584488 single base substitution T C downstream_gene_variant BRCA-UK X 117479087 117479087 single base substitution G A upstream_gene_variant BRCA-UK X 117499767 117499767 single base substitution C T intron_variant BRCA-UK X 117513575 117513575 single base substitution C G intron_variant BRCA-UK X 117530056 117530056 single base substitution A T downstream_gene_variant BRCA-UK X 117530056 117530056 single base substitution A T intron_variant BRCA-UK X 117576279 117576279 single base substitution G C missense_variant G646R 1936G>C BRCA-UK X 117576279 117576279 single base substitution G C missense_variant G658R 1972G>C BRCA-UK X 117576279 117576279 single base substitution G C missense_variant G747R 2239G>C BRCA-UK X 117578411 117578411 single base substitution G A synonymous_variant G766G 2298G>A BRCA-UK X 117578411 117578411 single base substitution G A synonymous_variant G778G 2334G>A BRCA-UK X 117578411 117578411 single base substitution G A synonymous_variant G859G 2577G>A BRCA-UK X 117578411 117578411 single base substitution G A synonymous_variant G867G 2601G>A BRCA-US X 117521341 117521341 single base substitution C T exon_variant BRCA-US X 117521341 117521341 single base substitution C T intron_variant BRCA-US X 117521341 117521341 single base substitution C T synonymous_variant S50S 150C>T BRCA-US X 117526710 117526710 single base substitution G A exon_variant BRCA-US X 117526710 117526710 single base substitution G A missense_variant R101K 302G>A BRCA-US X 117526710 117526710 single base substitution G A missense_variant R76K 227G>A BRCA-US X 117526710 117526710 single base substitution G A upstream_gene_variant BRCA-US X 117527021 117527021 single base substitution G A exon_variant BRCA-US X 117527021 117527021 single base substitution G A missense_variant A104T 310G>A BRCA-US X 117527021 117527021 single base substitution G A missense_variant A180T 538G>A BRCA-US X 117527021 117527021 single base substitution G A missense_variant A205T 613G>A BRCA-US X 117527075 117527075 single base substitution G C exon_variant BRCA-US X 117527075 117527075 single base substitution G C missense_variant D122H 364G>C BRCA-US X 117527075 117527075 single base substitution G C missense_variant D198H 592G>C BRCA-US X 117527075 117527075 single base substitution G C missense_variant D223H 667G>C BRCA-US X 117527137 117527137 single base substitution A C exon_variant BRCA-US X 117527137 117527137 single base substitution A C synonymous_variant P142P 426A>C BRCA-US X 117527137 117527137 single base substitution A C synonymous_variant P218P 654A>C BRCA-US X 117527137 117527137 single base substitution A C synonymous_variant P243P 729A>C BRCA-US X 117528092 117528092 single base substitution C T downstream_gene_variant BRCA-US X 117528092 117528092 single base substitution C T stop_gained Q200* 598C>T BRCA-US X 117528092 117528092 single base substitution C T stop_gained Q276* 826C>T BRCA-US X 117528092 117528092 single base substitution C T stop_gained Q301* 901C>T BRCA-US X 117529291 117529291 single base substitution G C downstream_gene_variant BRCA-US X 117529291 117529291 single base substitution G C missense_variant R245T 734G>C BRCA-US X 117529291 117529291 single base substitution G C missense_variant R321T 962G>C BRCA-US X 117529291 117529291 single base substitution G C missense_variant R346T 1037G>C BRCA-US X 117540916 117540916 single base substitution C T missense_variant A386V 1157C>T BRCA-US X 117540916 117540916 single base substitution C T missense_variant A462V 1385C>T BRCA-US X 117540916 117540916 single base substitution C T missense_variant A487V 1460C>T BRCA-US X 117566792 117566792 single base substitution C T missense_variant R495W 1483C>T BRCA-US X 117566792 117566792 single base substitution C T missense_variant R571W 1711C>T BRCA-US X 117566792 117566792 single base substitution C T missense_variant R596W 1786C>T BRCA-US X 117570666 117570666 single base substitution A G missense_variant N517S 1550A>G BRCA-US X 117570666 117570666 single base substitution A G missense_variant N593S 1778A>G BRCA-US X 117570666 117570666 single base substitution A G missense_variant N618S 1853A>G BRCA-US X 117570720 117570720 single base substitution C A missense_variant S535Y 1604C>A BRCA-US X 117570720 117570720 single base substitution C A missense_variant S611Y 1832C>A BRCA-US X 117570720 117570720 single base substitution C A missense_variant S636Y 1907C>A BRCA-US X 117570782 117570782 single base substitution C G missense_variant P556A 1666C>G BRCA-US X 117570782 117570782 single base substitution C G missense_variant P632A 1894C>G BRCA-US X 117570782 117570782 single base substitution C G missense_variant P657A 1969C>G BRCA-US X 117570786 117570786 single base substitution G C missense_variant R557T 1670G>C BRCA-US X 117570786 117570786 single base substitution G C missense_variant R633T 1898G>C BRCA-US X 117570786 117570786 single base substitution G C missense_variant R658T 1973G>C BRCA-US X 117575415 117575415 single base substitution G T intron_variant BRCA-US X 117575415 117575415 single base substitution G T stop_gained E586* 1756G>T BRCA-US X 117575415 117575415 single base substitution G T stop_gained E687* 2059G>T BRCA-US X 117577583 117577583 single base substitution C G synonymous_variant T714T 2142C>G BRCA-US X 117577583 117577583 single base substitution C G synonymous_variant T726T 2178C>G BRCA-US X 117577583 117577583 single base substitution C G synonymous_variant T807T 2421C>G BRCA-US X 117577583 117577583 single base substitution C G synonymous_variant T815T 2445C>G BRCA-US X 117578415 117578415 single base substitution G A missense_variant E768K 2302G>A BRCA-US X 117578415 117578415 single base substitution G A missense_variant E780K 2338G>A BRCA-US X 117578415 117578415 single base substitution G A missense_variant E861K 2581G>A BRCA-US X 117578415 117578415 single base substitution G A missense_variant E869K 2605G>A BTCA-JP X 117480423 117480423 single base substitution C T 5_prime_UTR_variant BTCA-JP X 117480423 117480423 single base substitution C T exon_variant BTCA-JP X 117480524 117480524 deletion of <=200bp G - exon_variant BTCA-JP X 117480524 117480524 deletion of <=200bp G - frameshift_variant G20 BTCA-JP X 117529167 117529167 single base substitution G C downstream_gene_variant BTCA-JP X 117529167 117529167 single base substitution G C intron_variant BTCA-JP X 117566786 117566786 single base substitution C A missense_variant P493T 1477C>A BTCA-JP X 117566786 117566786 single base substitution C A missense_variant P569T 1705C>A BTCA-JP X 117566786 117566786 single base substitution C A missense_variant P594T 1780C>A BTCA-JP X 117575467 117575467 single base substitution G A intron_variant BTCA-JP X 117575467 117575467 single base substitution G A missense_variant G603D 1808G>A BTCA-JP X 117575467 117575467 single base substitution G A missense_variant G704D 2111G>A BTCA-JP X 117578938 117578938 single base substitution T C intron_variant BTCA-JP X 117578991 117578991 single base substitution G A intron_variant CESC-US X 117480348 117480348 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant CESC-US X 117480348 117480348 single base substitution C G exon_variant CESC-US X 117528026 117528026 single base substitution G C downstream_gene_variant CESC-US X 117528026 117528026 single base substitution G C missense_variant E178Q 532G>C CESC-US X 117528026 117528026 single base substitution G C missense_variant E254Q 760G>C CESC-US X 117528026 117528026 single base substitution G C missense_variant E279Q 835G>C CESC-US X 117528059 117528059 single base substitution A G downstream_gene_variant CESC-US X 117528059 117528059 single base substitution A G missense_variant S189G 565A>G CESC-US X 117528059 117528059 single base substitution A G missense_variant S265G 793A>G CESC-US X 117528059 117528059 single base substitution A G missense_variant S290G 868A>G CESC-US X 117532408 117532408 single base substitution G A missense_variant D316N 946G>A CESC-US X 117532408 117532408 single base substitution G A missense_variant D392N 1174G>A CESC-US X 117532408 117532408 single base substitution G A missense_variant D417N 1249G>A CLLE-ES X 117484365 117484365 single base substitution T C intron_variant CLLE-ES X 117495779 117495779 deletion of <=200bp G - intron_variant CLLE-ES X 117503829 117503829 single base substitution C T intron_variant CLLE-ES X 117504056 117504056 single base substitution C A intron_variant CLLE-ES X 117517838 117517838 insertion of <=200bp - TT intron_variant CLLE-ES X 117524693 117524693 single base substitution A G intron_variant CLLE-ES X 117524693 117524693 single base substitution A G upstream_gene_variant CLLE-ES X 117526636 117526636 single base substitution G A exon_variant CLLE-ES X 117526636 117526636 single base substitution G A synonymous_variant Q51Q 153G>A CLLE-ES X 117526636 117526636 single base substitution G A synonymous_variant Q76Q 228G>A CLLE-ES X 117526636 117526636 single base substitution G A upstream_gene_variant CLLE-ES X 117530307 117530307 single base substitution A T downstream_gene_variant CLLE-ES X 117530307 117530307 single base substitution A T intron_variant CLLE-ES X 117546548 117546548 single base substitution A T intron_variant COAD-US X 117521338 117521338 single base substitution G A exon_variant COAD-US X 117521338 117521338 single base substitution G A intron_variant COAD-US X 117521338 117521338 single base substitution G A synonymous_variant E49E 147G>A COAD-US X 117527155 117527155 single base substitution T G exon_variant COAD-US X 117527155 117527155 single base substitution T G synonymous_variant P148P 444T>G COAD-US X 117527155 117527155 single base substitution T G synonymous_variant P224P 672T>G COAD-US X 117527155 117527155 single base substitution T G synonymous_variant P249P 747T>G COAD-US X 117528056 117528056 single base substitution G A downstream_gene_variant COAD-US X 117528056 117528056 single base substitution G A missense_variant A188T 562G>A COAD-US X 117528056 117528056 single base substitution G A missense_variant A264T 790G>A COAD-US X 117528056 117528056 single base substitution G A missense_variant A289T 865G>A COAD-US X 117538369 117538369 single base substitution A G missense_variant E347G 1040A>G COAD-US X 117538369 117538369 single base substitution A G missense_variant E423G 1268A>G COAD-US X 117538369 117538369 single base substitution A G missense_variant E448G 1343A>G COAD-US X 117543546 117543546 single base substitution C T missense_variant A442V 1325C>T COAD-US X 117543546 117543546 single base substitution C T missense_variant A518V 1553C>T COAD-US X 117543546 117543546 single base substitution C T missense_variant A543V 1628C>T COAD-US X 117566782 117566782 single base substitution C T synonymous_variant N491N 1473C>T COAD-US X 117566782 117566782 single base substitution C T synonymous_variant N567N 1701C>T COAD-US X 117566782 117566782 single base substitution C T synonymous_variant N592N 1776C>T COAD-US X 117570667 117570667 single base substitution C T splice_region_variant COAD-US X 117575373 117575373 single base substitution C T intron_variant COAD-US X 117575373 117575373 single base substitution C T missense_variant R572C 1714C>T COAD-US X 117575373 117575373 single base substitution C T missense_variant R673C 2017C>T COAD-US X 117576281 117576281 single base substitution C T synonymous_variant G646G 1938C>T COAD-US X 117576281 117576281 single base substitution C T synonymous_variant G658G 1974C>T COAD-US X 117576281 117576281 single base substitution C T synonymous_variant G747G 2241C>T COCA-CN X 117520325 117520325 single base substitution T G intron_variant COCA-CN X 117521283 117521283 single base substitution T A intron_variant COCA-CN X 117527021 117527021 single base substitution G A exon_variant COCA-CN X 117527021 117527021 single base substitution G A missense_variant A104T 310G>A COCA-CN X 117527021 117527021 single base substitution G A missense_variant A180T 538G>A COCA-CN X 117527021 117527021 single base substitution G A missense_variant A205T 613G>A COCA-CN X 117528277 117528277 single base substitution C A downstream_gene_variant COCA-CN X 117528277 117528277 single base substitution C A intron_variant COCA-CN X 117541110 117541110 single base substitution A G intron_variant COCA-CN X 117543419 117543419 single base substitution G T intron_variant COCA-CN X 117543437 117543437 single base substitution C A intron_variant COCA-CN X 117566704 117566704 single base substitution T G intron_variant COCA-CN X 117566801 117566801 single base substitution C T missense_variant P498S 1492C>T COCA-CN X 117566801 117566801 single base substitution C T missense_variant P574S 1720C>T COCA-CN X 117566801 117566801 single base substitution C T missense_variant P599S 1795C>T COCA-CN X 117566858 117566858 single base substitution G T splice_donor_variant COCA-CN X 117570418 117570418 single base substitution G A intron_variant COCA-CN X 117578172 117578172 single base substitution A G intron_variant EOPC-DE X 117525832 117525832 single base substitution T C intron_variant EOPC-DE X 117525832 117525832 single base substitution T C upstream_gene_variant ESCA-CN X 117577574 117577574 single base substitution C A synonymous_variant I711I 2133C>A ESCA-CN X 117577574 117577574 single base substitution C A synonymous_variant I723I 2169C>A ESCA-CN X 117577574 117577574 single base substitution C A synonymous_variant I804I 2412C>A ESCA-CN X 117577574 117577574 single base substitution C A synonymous_variant I812I 2436C>A ESCA-CN X 117583358 117583358 insertion of <=200bp - T 3_prime_UTR_variant ESCA-CN X 117583358 117583358 insertion of <=200bp - T downstream_gene_variant ESCA-CN X 117583523 117583523 single base substitution G T 3_prime_UTR_variant ESCA-CN X 117583523 117583523 single base substitution G T downstream_gene_variant ESCA-CN X 117583721 117583721 deletion of <=200bp T - 3_prime_UTR_variant ESCA-CN X 117583721 117583721 deletion of <=200bp T - downstream_gene_variant GBM-US X 117527112 117527112 single base substitution G A exon_variant GBM-US X 117527112 117527112 single base substitution G A missense_variant R134H 401G>A GBM-US X 117527112 117527112 single base substitution G A missense_variant R210H 629G>A GBM-US X 117527112 117527112 single base substitution G A missense_variant R235H 704G>A KIRP-US X 117526750 117526750 single base substitution T G exon_variant KIRP-US X 117526750 117526750 single base substitution T G missense_variant D114E 342T>G KIRP-US X 117526750 117526750 single base substitution T G missense_variant D13E 39T>G KIRP-US X 117526750 117526750 single base substitution T G missense_variant D89E 267T>G LAML-KR X 117517701 117517701 single base substitution G T intron_variant LAML-KR X 117528142 117528142 single base substitution C T downstream_gene_variant LAML-KR X 117528142 117528142 single base substitution C T synonymous_variant T216T 648C>T LAML-KR X 117528142 117528142 single base substitution C T synonymous_variant T292T 876C>T LAML-KR X 117528142 117528142 single base substitution C T synonymous_variant T317T 951C>T LAML-KR X 117535082 117535082 single base substitution G A intron_variant LAML-KR X 117535203 117535203 single base substitution G A intron_variant LAML-KR X 117566782 117566782 single base substitution C T synonymous_variant N491N 1473C>T LAML-KR X 117566782 117566782 single base substitution C T synonymous_variant N567N 1701C>T LAML-KR X 117566782 117566782 single base substitution C T synonymous_variant N592N 1776C>T LAML-KR X 117585962 117585962 single base substitution C T downstream_gene_variant LGG-US X 117527112 117527112 single base substitution G A exon_variant LGG-US X 117527112 117527112 single base substitution G A missense_variant R134H 401G>A LGG-US X 117527112 117527112 single base substitution G A missense_variant R210H 629G>A LGG-US X 117527112 117527112 single base substitution G A missense_variant R235H 704G>A LICA-CN X 117578450 117578450 single base substitution A G synonymous_variant T779T 2337A>G LICA-CN X 117578450 117578450 single base substitution A G synonymous_variant T791T 2373A>G LICA-CN X 117578450 117578450 single base substitution A G synonymous_variant T872T 2616A>G LICA-CN X 117578450 117578450 single base substitution A G synonymous_variant T880T 2640A>G LICA-FR X 117491876 117491876 single base substitution C G intron_variant LICA-FR X 117498100 117498100 single base substitution T C intron_variant LICA-FR X 117515540 117515540 deletion of <=200bp T - intron_variant LICA-FR X 117522173 117522173 single base substitution G C intron_variant LICA-FR X 117522173 117522173 single base substitution G C upstream_gene_variant LICA-FR X 117525949 117525949 single base substitution A G intron_variant LICA-FR X 117525949 117525949 single base substitution A G upstream_gene_variant LICA-FR X 117548221 117548221 deletion of <=200bp T - intron_variant LICA-FR X 117549842 117549842 single base substitution G C intron_variant LICA-FR X 117556072 117556072 single base substitution A G intron_variant LICA-FR X 117561222 117561222 single base substitution A C intron_variant LICA-FR X 117564430 117564430 single base substitution A T intron_variant LICA-FR X 117566794 117566794 single base substitution G A synonymous_variant R495R 1485G>A LICA-FR X 117566794 117566794 single base substitution G A synonymous_variant R571R 1713G>A LICA-FR X 117566794 117566794 single base substitution G A synonymous_variant R596R 1788G>A LICA-FR X 117586634 117586634 deletion of <=200bp A - downstream_gene_variant LIHC-US X 117528110 117528110 single base substitution G T downstream_gene_variant LIHC-US X 117528110 117528110 single base substitution G T missense_variant A206S 616G>T LIHC-US X 117528110 117528110 single base substitution G T missense_variant A282S 844G>T LIHC-US X 117528110 117528110 single base substitution G T missense_variant A307S 919G>T LIHC-US X 117566745 117566745 single base substitution T A missense_variant V479E 1436T>A LIHC-US X 117566745 117566745 single base substitution T A missense_variant V555E 1664T>A LIHC-US X 117566745 117566745 single base substitution T A missense_variant V580E 1739T>A LINC-JP X 117481381 117481381 single base substitution A G intron_variant LINC-JP X 117486281 117486281 single base substitution T A intron_variant LINC-JP X 117489427 117489427 single base substitution G C intron_variant LINC-JP X 117491526 117491526 single base substitution A G intron_variant LINC-JP X 117504477 117504477 single base substitution A G intron_variant LINC-JP X 117511755 117511755 single base substitution A G intron_variant LINC-JP X 117512370 117512370 single base substitution A G intron_variant LINC-JP X 117512505 117512505 deletion of <=200bp T - intron_variant LINC-JP X 117528079 117528079 single base substitution G A downstream_gene_variant LINC-JP X 117528079 117528079 single base substitution G A synonymous_variant T195T 585G>A LINC-JP X 117528079 117528079 single base substitution G A synonymous_variant T271T 813G>A LINC-JP X 117528079 117528079 single base substitution G A synonymous_variant T296T 888G>A LINC-JP X 117533614 117533614 single base substitution A G intron_variant LINC-JP X 117534642 117534642 single base substitution T A intron_variant LINC-JP X 117536897 117536897 single base substitution G A intron_variant LINC-JP X 117574912 117574912 single base substitution C T intron_variant LINC-JP X 117578344 117578344 single base substitution C G stop_gained S744* 2231C>G LINC-JP X 117578344 117578344 single base substitution C G stop_gained S756* 2267C>G LINC-JP X 117578344 117578344 single base substitution C G stop_gained S837* 2510C>G LINC-JP X 117578344 117578344 single base substitution C G stop_gained S845* 2534C>G LINC-JP X 117580814 117580814 single base substitution C T intron_variant LINC-JP X 117588775 117588775 single base substitution A G downstream_gene_variant LIRI-JP X 117476267 117476267 single base substitution T C upstream_gene_variant LIRI-JP X 117481591 117481591 single base substitution C T intron_variant LIRI-JP X 117482932 117482932 single base substitution T C intron_variant LIRI-JP X 117486799 117486799 single base substitution A T intron_variant LIRI-JP X 117488206 117488206 single base substitution T C intron_variant LIRI-JP X 117490370 117490370 single base substitution G A intron_variant LIRI-JP X 117491805 117491805 single base substitution G A intron_variant LIRI-JP X 117491861 117491861 single base substitution G T intron_variant LIRI-JP X 117493251 117493251 single base substitution C G intron_variant LIRI-JP X 117494643 117494643 single base substitution C T intron_variant LIRI-JP X 117497080 117497080 single base substitution A G intron_variant LIRI-JP X 117497810 117497810 single base substitution G T intron_variant LIRI-JP X 117505480 117505480 single base substitution C T intron_variant LIRI-JP X 117507479 117507479 single base substitution A C intron_variant LIRI-JP X 117512596 117512596 single base substitution C T intron_variant LIRI-JP X 117514012 117514012 single base substitution C A intron_variant LIRI-JP X 117514429 117514429 single base substitution A G intron_variant LIRI-JP X 117518868 117518868 single base substitution A G intron_variant LIRI-JP X 117519792 117519792 single base substitution G T intron_variant LIRI-JP X 117519985 117519985 single base substitution A T intron_variant LIRI-JP X 117526394 117526394 single base substitution G C intron_variant LIRI-JP X 117526394 117526394 single base substitution G C upstream_gene_variant LIRI-JP X 117526459 117526459 single base substitution T C intron_variant LIRI-JP X 117526459 117526459 single base substitution T C upstream_gene_variant LIRI-JP X 117529964 117529964 single base substitution G A downstream_gene_variant LIRI-JP X 117529964 117529964 single base substitution G A intron_variant LIRI-JP X 117531191 117531191 single base substitution A G downstream_gene_variant LIRI-JP X 117531191 117531191 single base substitution A G intron_variant LIRI-JP X 117532402 117532402 single base substitution G A missense_variant D314N 940G>A LIRI-JP X 117532402 117532402 single base substitution G A missense_variant D390N 1168G>A LIRI-JP X 117532402 117532402 single base substitution G A missense_variant D415N 1243G>A LIRI-JP X 117532884 117532884 single base substitution A G intron_variant LIRI-JP X 117542786 117542786 single base substitution A G intron_variant LIRI-JP X 117543489 117543489 single base substitution G A missense_variant R423Q 1268G>A LIRI-JP X 117543489 117543489 single base substitution G A missense_variant R499Q 1496G>A LIRI-JP X 117543489 117543489 single base substitution G A missense_variant R524Q 1571G>A LIRI-JP X 117544278 117544278 single base substitution C G intron_variant LIRI-JP X 117544595 117544595 single base substitution C G intron_variant LIRI-JP X 117544917 117544917 single base substitution A G missense_variant T477A 1429A>G LIRI-JP X 117544917 117544917 single base substitution A G missense_variant T553A 1657A>G LIRI-JP X 117544917 117544917 single base substitution A G missense_variant T578A 1732A>G LIRI-JP X 117550454 117550454 single base substitution T C intron_variant LIRI-JP X 117551979 117551979 single base substitution A C intron_variant LIRI-JP X 117551999 117551999 single base substitution T G intron_variant LIRI-JP X 117554111 117554111 single base substitution A G intron_variant LIRI-JP X 117556696 117556696 single base substitution A G intron_variant LIRI-JP X 117557756 117557756 single base substitution T A intron_variant LIRI-JP X 117560710 117560710 single base substitution C G intron_variant LIRI-JP X 117561422 117561422 single base substitution A G intron_variant LIRI-JP X 117562154 117562154 single base substitution G A intron_variant LIRI-JP X 117569592 117569592 single base substitution T C intron_variant LIRI-JP X 117577474 117577475 deletion of <=200bp AT - intron_variant LIRI-JP X 117578589 117578589 single base substitution G A intron_variant LIRI-JP X 117580915 117580915 single base substitution G A intron_variant LIRI-JP X 117584349 117584349 single base substitution A G downstream_gene_variant LIRI-JP X 117584673 117584673 single base substitution A G downstream_gene_variant LIRI-JP X 117588130 117588130 single base substitution T A downstream_gene_variant LUSC-KR X 117480597 117480597 single base substitution C G intron_variant LUSC-KR X 117490532 117490532 single base substitution G C intron_variant LUSC-KR X 117497307 117497307 single base substitution T A intron_variant LUSC-KR X 117507216 117507216 single base substitution A T intron_variant LUSC-KR X 117528071 117528071 single base substitution G A downstream_gene_variant LUSC-KR X 117528071 117528071 single base substitution G A missense_variant E193K 577G>A LUSC-KR X 117528071 117528071 single base substitution G A missense_variant E269K 805G>A LUSC-KR X 117528071 117528071 single base substitution G A missense_variant E294K 880G>A LUSC-KR X 117528382 117528382 single base substitution A T downstream_gene_variant LUSC-KR X 117528382 117528382 single base substitution A T intron_variant LUSC-KR X 117535082 117535082 single base substitution G A intron_variant LUSC-KR X 117543342 117543342 single base substitution C T intron_variant LUSC-KR X 117549719 117549719 single base substitution G A intron_variant LUSC-KR X 117562804 117562804 single base substitution G A intron_variant LUSC-KR X 117563876 117563876 single base substitution G T intron_variant LUSC-KR X 117574686 117574686 single base substitution G A intron_variant LUSC-KR X 117580688 117580688 single base substitution A G intron_variant LUSC-KR X 117587616 117587616 single base substitution G C downstream_gene_variant LUSC-US X 117527019 117527019 single base substitution C G exon_variant LUSC-US X 117527019 117527019 single base substitution C G missense_variant A103G 308C>G LUSC-US X 117527019 117527019 single base substitution C G missense_variant A179G 536C>G LUSC-US X 117527019 117527019 single base substitution C G missense_variant A204G 611C>G LUSC-US X 117540902 117540902 single base substitution A G synonymous_variant P381P 1143A>G LUSC-US X 117540902 117540902 single base substitution A G synonymous_variant P457P 1371A>G LUSC-US X 117540902 117540902 single base substitution A G synonymous_variant P482P 1446A>G LUSC-US X 117540953 117540953 single base substitution G T missense_variant Q398H 1194G>T LUSC-US X 117540953 117540953 single base substitution G T missense_variant Q474H 1422G>T LUSC-US X 117540953 117540953 single base substitution G T missense_variant Q499H 1497G>T LUSC-US X 117566799 117566799 single base substitution G C missense_variant R497P 1490G>C LUSC-US X 117566799 117566799 single base substitution G C missense_variant R573P 1718G>C LUSC-US X 117566799 117566799 single base substitution G C missense_variant R598P 1793G>C LUSC-US X 117576644 117576644 single base substitution G T splice_donor_variant MALY-DE X 117477421 117477421 single base substitution G A upstream_gene_variant MALY-DE X 117477648 117477648 single base substitution T A upstream_gene_variant MALY-DE X 117478541 117478541 single base substitution A G upstream_gene_variant MALY-DE X 117481189 117481189 single base substitution C T intron_variant MALY-DE X 117485407 117485407 single base substitution T A intron_variant MALY-DE X 117496261 117496261 single base substitution A C intron_variant MALY-DE X 117498730 117498730 single base substitution C T intron_variant MALY-DE X 117499471 117499471 deletion of <=200bp A - intron_variant MALY-DE X 117502423 117502423 insertion of <=200bp - TA intron_variant MALY-DE X 117502423 117502424 deletion of <=200bp TA - intron_variant MALY-DE X 117504100 117504100 single base substitution C T intron_variant MALY-DE X 117504593 117504593 single base substitution C T intron_variant MALY-DE X 117506551 117506551 deletion of <=200bp A - intron_variant MALY-DE X 117512673 117512674 deletion of <=200bp GT - intron_variant MALY-DE X 117513039 117513039 single base substitution A G intron_variant MALY-DE X 117517015 117517015 single base substitution C T intron_variant MALY-DE X 117523879 117523880 deletion of <=200bp TT - intron_variant MALY-DE X 117523879 117523880 deletion of <=200bp TT - upstream_gene_variant MALY-DE X 117527620 117527620 single base substitution T G downstream_gene_variant MALY-DE X 117527620 117527620 single base substitution T G intron_variant MALY-DE X 117529354 117529354 single base substitution A C downstream_gene_variant MALY-DE X 117529354 117529354 single base substitution A C intron_variant MALY-DE X 117536593 117536593 single base substitution C A intron_variant MALY-DE X 117539834 117539834 deletion of <=200bp T - intron_variant MALY-DE X 117541623 117541623 single base substitution A T intron_variant MALY-DE X 117557915 117557915 single base substitution A G intron_variant MALY-DE X 117559092 117559092 single base substitution A G intron_variant MALY-DE X 117559707 117559707 single base substitution G A intron_variant MALY-DE X 117566782 117566782 single base substitution C T synonymous_variant N491N 1473C>T MALY-DE X 117566782 117566782 single base substitution C T synonymous_variant N567N 1701C>T MALY-DE X 117566782 117566782 single base substitution C T synonymous_variant N592N 1776C>T MALY-DE X 117568321 117568321 single base substitution G T intron_variant MALY-DE X 117575014 117575014 single base substitution C T intron_variant MALY-DE X 117578508 117578508 single base substitution C T intron_variant MALY-DE X 117581259 117581259 deletion of <=200bp T - intron_variant MALY-DE X 117583359 117583359 deletion of <=200bp T - 3_prime_UTR_variant MALY-DE X 117583359 117583359 deletion of <=200bp T - downstream_gene_variant MALY-DE X 117586250 117586250 single base substitution G A downstream_gene_variant MALY-DE X 117586580 117586580 single base substitution A C downstream_gene_variant MALY-DE X 117586674 117586674 single base substitution A C downstream_gene_variant MALY-DE X 117588003 117588003 single base substitution G A downstream_gene_variant MELA-AU X 117475114 117475114 single base substitution C T upstream_gene_variant MELA-AU X 117475264 117475264 single base substitution T C upstream_gene_variant MELA-AU X 117475405 117475405 single base substitution C T upstream_gene_variant MELA-AU X 117475596 117475596 single base substitution C T upstream_gene_variant MELA-AU X 117475660 117475660 single base substitution G A upstream_gene_variant MELA-AU X 117475730 117475730 single base substitution G A upstream_gene_variant MELA-AU X 117475762 117475762 single base substitution G A upstream_gene_variant MELA-AU X 117476699 117476699 single base substitution T A upstream_gene_variant MELA-AU X 117476770 117476770 single base substitution C T upstream_gene_variant MELA-AU X 117476857 117476857 single base substitution C T upstream_gene_variant MELA-AU X 117477022 117477022 single base substitution G A upstream_gene_variant MELA-AU X 117477093 117477093 single base substitution A G upstream_gene_variant MELA-AU X 117477365 117477365 single base substitution C T upstream_gene_variant MELA-AU X 117477531 117477531 single base substitution G A upstream_gene_variant MELA-AU X 117477587 117477588 multiple base substitution (>=2bp and <=200bp) AG GA upstream_gene_variant MELA-AU X 117477673 117477673 single base substitution G A upstream_gene_variant MELA-AU X 117477807 117477807 single base substitution C T upstream_gene_variant MELA-AU X 117478500 117478500 single base substitution C T upstream_gene_variant MELA-AU X 117478624 117478624 single base substitution A C upstream_gene_variant MELA-AU X 117478748 117478748 single base substitution T G upstream_gene_variant MELA-AU X 117479376 117479376 single base substitution G A upstream_gene_variant MELA-AU X 117479496 117479496 single base substitution C T upstream_gene_variant MELA-AU X 117479861 117479861 single base substitution C A upstream_gene_variant MELA-AU X 117479909 117479909 single base substitution C T upstream_gene_variant MELA-AU X 117479910 117479910 single base substitution C T upstream_gene_variant MELA-AU X 117480186 117480186 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU X 117480186 117480186 single base substitution C T exon_variant MELA-AU X 117480426 117480426 single base substitution C T 5_prime_UTR_variant MELA-AU X 117480426 117480426 single base substitution C T exon_variant MELA-AU X 117480447 117480447 single base substitution C T 5_prime_UTR_variant MELA-AU X 117480447 117480447 single base substitution C T exon_variant MELA-AU X 117480770 117480770 single base substitution G A intron_variant MELA-AU X 117481241 117481241 single base substitution G A intron_variant MELA-AU X 117481305 117481305 single base substitution A G intron_variant MELA-AU X 117481702 117481702 single base substitution T C intron_variant MELA-AU X 117482335 117482335 single base substitution C T intron_variant MELA-AU X 117482507 117482507 single base substitution C T intron_variant MELA-AU X 117482615 117482615 single base substitution C T intron_variant MELA-AU X 117482992 117482992 single base substitution C T intron_variant MELA-AU X 117484795 117484795 single base substitution G A intron_variant MELA-AU X 117485738 117485738 single base substitution C T intron_variant MELA-AU X 117487177 117487177 single base substitution C T intron_variant MELA-AU X 117487236 117487236 single base substitution G A intron_variant MELA-AU X 117488593 117488593 single base substitution T A intron_variant MELA-AU X 117489255 117489255 single base substitution A G intron_variant MELA-AU X 117491296 117491296 single base substitution C T intron_variant MELA-AU X 117491582 117491609 deletion of <=200bp TGCCTGTAATCCCAGCTACCCAGGAGGT - intron_variant MELA-AU X 117491779 117491779 single base substitution C G intron_variant MELA-AU X 117492106 117492106 single base substitution T C intron_variant MELA-AU X 117492934 117492934 single base substitution G A intron_variant MELA-AU X 117493054 117493054 single base substitution C T intron_variant MELA-AU X 117493931 117493931 single base substitution G A intron_variant MELA-AU X 117494019 117494019 single base substitution G C intron_variant MELA-AU X 117494310 117494310 single base substitution G A intron_variant MELA-AU X 117494469 117494469 single base substitution C T intron_variant MELA-AU X 117494752 117494752 single base substitution G A intron_variant MELA-AU X 117494819 117494819 single base substitution A T intron_variant MELA-AU X 117494918 117494918 single base substitution G A intron_variant MELA-AU X 117495819 117495820 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 117495820 117495820 single base substitution G A intron_variant MELA-AU X 117495913 117495913 single base substitution A G intron_variant MELA-AU X 117495997 117495997 single base substitution G A intron_variant MELA-AU X 117496349 117496349 single base substitution T C intron_variant MELA-AU X 117497332 117497332 single base substitution C T intron_variant MELA-AU X 117497488 117497488 single base substitution G A intron_variant MELA-AU X 117497995 117497995 single base substitution G A intron_variant MELA-AU X 117498093 117498093 single base substitution C T intron_variant MELA-AU X 117498605 117498605 single base substitution C G intron_variant MELA-AU X 117501238 117501238 single base substitution C T intron_variant MELA-AU X 117501724 117501724 single base substitution C T intron_variant MELA-AU X 117502618 117502618 single base substitution G A intron_variant MELA-AU X 117502762 117502762 single base substitution C T intron_variant MELA-AU X 117503229 117503229 single base substitution G A intron_variant MELA-AU X 117503361 117503361 single base substitution C T intron_variant MELA-AU X 117504012 117504012 single base substitution A G intron_variant MELA-AU X 117504283 117504283 single base substitution C T intron_variant MELA-AU X 117504778 117504778 single base substitution C A intron_variant MELA-AU X 117505692 117505692 single base substitution G A intron_variant MELA-AU X 117505737 117505737 single base substitution C T intron_variant MELA-AU X 117506163 117506163 single base substitution C T intron_variant MELA-AU X 117506333 117506333 single base substitution G A intron_variant MELA-AU X 117506419 117506419 single base substitution T C intron_variant MELA-AU X 117506601 117506601 single base substitution C T intron_variant MELA-AU X 117506776 117506776 single base substitution G A intron_variant MELA-AU X 117507143 117507143 single base substitution C T intron_variant MELA-AU X 117507258 117507258 single base substitution A G intron_variant MELA-AU X 117507664 117507664 single base substitution G A intron_variant MELA-AU X 117507914 117507914 single base substitution C T intron_variant MELA-AU X 117508042 117508042 single base substitution C T intron_variant MELA-AU X 117508056 117508056 single base substitution C T intron_variant MELA-AU X 117508184 117508184 single base substitution A G intron_variant MELA-AU X 117508387 117508387 single base substitution C T intron_variant MELA-AU X 117508903 117508903 single base substitution C T intron_variant MELA-AU X 117510275 117510275 single base substitution T A intron_variant MELA-AU X 117510703 117510703 single base substitution C T intron_variant MELA-AU X 117511545 117511545 single base substitution A G intron_variant MELA-AU X 117511913 117511913 single base substitution C T intron_variant MELA-AU X 117513328 117513328 single base substitution C T intron_variant MELA-AU X 117513900 117513900 single base substitution T C intron_variant MELA-AU X 117514891 117514891 single base substitution G A intron_variant MELA-AU X 117516087 117516087 single base substitution C T intron_variant MELA-AU X 117516225 117516225 single base substitution G T intron_variant MELA-AU X 117516614 117516614 single base substitution T G intron_variant MELA-AU X 117516776 117516776 single base substitution G A intron_variant MELA-AU X 117516955 117516955 single base substitution C T intron_variant MELA-AU X 117517094 117517094 single base substitution C T intron_variant MELA-AU X 117517463 117517463 single base substitution G A intron_variant MELA-AU X 117517620 117517620 single base substitution C T intron_variant MELA-AU X 117517647 117517647 single base substitution T A intron_variant MELA-AU X 117517780 117517780 single base substitution C T intron_variant MELA-AU X 117518848 117518849 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 117519138 117519138 single base substitution A T intron_variant MELA-AU X 117519298 117519298 single base substitution G A intron_variant MELA-AU X 117519408 117519408 single base substitution C T intron_variant MELA-AU X 117519751 117519751 single base substitution C T intron_variant MELA-AU X 117520487 117520487 single base substitution G A intron_variant MELA-AU X 117520948 117520948 single base substitution C T intron_variant MELA-AU X 117521059 117521059 single base substitution C T intron_variant MELA-AU X 117522420 117522420 single base substitution A G intron_variant MELA-AU X 117522420 117522420 single base substitution A G upstream_gene_variant MELA-AU X 117522514 117522514 single base substitution G A intron_variant MELA-AU X 117522514 117522514 single base substitution G A upstream_gene_variant MELA-AU X 117522860 117522860 single base substitution C T intron_variant MELA-AU X 117522860 117522860 single base substitution C T upstream_gene_variant MELA-AU X 117523017 117523017 single base substitution G A intron_variant MELA-AU X 117523017 117523017 single base substitution G A upstream_gene_variant MELA-AU X 117523305 117523305 single base substitution G A intron_variant MELA-AU X 117523305 117523305 single base substitution G A upstream_gene_variant MELA-AU X 117523397 117523397 single base substitution G A intron_variant MELA-AU X 117523397 117523397 single base substitution G A upstream_gene_variant MELA-AU X 117524118 117524118 single base substitution C T intron_variant MELA-AU X 117524118 117524118 single base substitution C T upstream_gene_variant MELA-AU X 117524290 117524290 single base substitution C T intron_variant MELA-AU X 117524290 117524290 single base substitution C T upstream_gene_variant MELA-AU X 117524571 117524571 single base substitution C T intron_variant MELA-AU X 117524571 117524571 single base substitution C T upstream_gene_variant MELA-AU X 117524719 117524719 single base substitution C T intron_variant MELA-AU X 117524719 117524719 single base substitution C T upstream_gene_variant MELA-AU X 117526349 117526349 single base substitution C T intron_variant MELA-AU X 117526349 117526349 single base substitution C T upstream_gene_variant MELA-AU X 117526592 117526592 single base substitution C T intron_variant MELA-AU X 117526592 117526592 single base substitution C T splice_region_variant MELA-AU X 117526592 117526592 single base substitution C T upstream_gene_variant MELA-AU X 117526795 117526795 single base substitution A T exon_variant MELA-AU X 117526795 117526795 single base substitution A T synonymous_variant T104T 312A>T MELA-AU X 117526795 117526795 single base substitution A T synonymous_variant T129T 387A>T MELA-AU X 117526795 117526795 single base substitution A T synonymous_variant T28T 84A>T MELA-AU X 117527158 117527158 single base substitution T C exon_variant MELA-AU X 117527158 117527158 single base substitution T C synonymous_variant P149P 447T>C MELA-AU X 117527158 117527158 single base substitution T C synonymous_variant P225P 675T>C MELA-AU X 117527158 117527158 single base substitution T C synonymous_variant P250P 750T>C MELA-AU X 117527906 117527906 single base substitution C T downstream_gene_variant MELA-AU X 117527906 117527906 single base substitution C T intron_variant MELA-AU X 117528821 117528821 single base substitution C T downstream_gene_variant MELA-AU X 117528821 117528821 single base substitution C T intron_variant MELA-AU X 117529602 117529602 single base substitution G T downstream_gene_variant MELA-AU X 117529602 117529602 single base substitution G T intron_variant MELA-AU X 117529765 117529765 single base substitution C A downstream_gene_variant MELA-AU X 117529765 117529765 single base substitution C A intron_variant MELA-AU X 117530303 117530303 single base substitution A C downstream_gene_variant MELA-AU X 117530303 117530303 single base substitution A C intron_variant MELA-AU X 117530536 117530536 single base substitution T C downstream_gene_variant MELA-AU X 117530536 117530536 single base substitution T C intron_variant MELA-AU X 117530876 117530876 single base substitution A T downstream_gene_variant MELA-AU X 117530876 117530876 single base substitution A T intron_variant MELA-AU X 117532519 117532519 single base substitution C T intron_variant MELA-AU X 117533021 117533021 single base substitution C T intron_variant MELA-AU X 117533038 117533039 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 117533154 117533154 single base substitution C T intron_variant MELA-AU X 117533369 117533369 single base substitution T C intron_variant MELA-AU X 117533504 117533504 single base substitution G A intron_variant MELA-AU X 117533539 117533539 single base substitution C T intron_variant MELA-AU X 117533980 117533980 single base substitution G A intron_variant MELA-AU X 117535879 117535879 single base substitution A T intron_variant MELA-AU X 117537789 117537789 single base substitution T C intron_variant MELA-AU X 117538143 117538143 single base substitution C T intron_variant MELA-AU X 117538320 117538320 single base substitution C T missense_variant L331F 991C>T MELA-AU X 117538320 117538320 single base substitution C T missense_variant L407F 1219C>T MELA-AU X 117538320 117538320 single base substitution C T missense_variant L432F 1294C>T MELA-AU X 117538755 117538755 single base substitution C T intron_variant MELA-AU X 117538788 117538788 single base substitution C T intron_variant MELA-AU X 117538794 117538794 single base substitution G A intron_variant MELA-AU X 117538836 117538836 single base substitution T C intron_variant MELA-AU X 117538895 117538895 single base substitution C T intron_variant MELA-AU X 117539333 117539333 single base substitution C T intron_variant MELA-AU X 117539361 117539361 single base substitution G A intron_variant MELA-AU X 117539496 117539496 single base substitution T C intron_variant MELA-AU X 117539876 117539877 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU X 117539986 117539986 single base substitution C T intron_variant MELA-AU X 117540186 117540186 single base substitution G A intron_variant MELA-AU X 117540190 117540190 single base substitution C T intron_variant MELA-AU X 117541313 117541313 single base substitution A T intron_variant MELA-AU X 117541372 117541372 single base substitution G A intron_variant MELA-AU X 117541639 117541639 single base substitution C T intron_variant MELA-AU X 117541647 117541647 single base substitution C T intron_variant MELA-AU X 117543190 117543191 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU X 117543331 117543331 single base substitution G A intron_variant MELA-AU X 117544085 117544085 single base substitution T C intron_variant MELA-AU X 117544453 117544453 single base substitution C A intron_variant MELA-AU X 117544990 117544990 single base substitution T C intron_variant MELA-AU X 117545016 117545016 single base substitution G A intron_variant MELA-AU X 117545551 117545551 single base substitution C T intron_variant MELA-AU X 117545600 117545600 single base substitution C T intron_variant MELA-AU X 117546780 117546780 single base substitution C T intron_variant MELA-AU X 117546859 117546859 single base substitution C T intron_variant MELA-AU X 117547161 117547161 single base substitution G A intron_variant MELA-AU X 117547552 117547552 single base substitution C T intron_variant MELA-AU X 117547909 117547909 single base substitution C T intron_variant MELA-AU X 117548082 117548082 single base substitution C T intron_variant MELA-AU X 117548098 117548098 single base substitution G C intron_variant MELA-AU X 117548101 117548101 single base substitution T C intron_variant MELA-AU X 117548704 117548704 single base substitution C T intron_variant MELA-AU X 117548950 117548950 single base substitution C T intron_variant MELA-AU X 117549696 117549696 single base substitution G A intron_variant MELA-AU X 117549736 117549736 single base substitution G A intron_variant MELA-AU X 117550023 117550023 single base substitution G A intron_variant MELA-AU X 117550482 117550482 single base substitution C T intron_variant MELA-AU X 117550509 117550509 single base substitution G T intron_variant MELA-AU X 117550592 117550592 single base substitution C T intron_variant MELA-AU X 117550692 117550692 single base substitution C T intron_variant MELA-AU X 117551284 117551284 single base substitution C T intron_variant MELA-AU X 117551287 117551287 single base substitution G A intron_variant MELA-AU X 117551311 117551311 single base substitution C T intron_variant MELA-AU X 117551815 117551815 single base substitution G T intron_variant MELA-AU X 117552029 117552029 single base substitution C T intron_variant MELA-AU X 117552319 117552319 single base substitution C T intron_variant MELA-AU X 117552516 117552516 single base substitution C T intron_variant MELA-AU X 117553205 117553205 single base substitution C T intron_variant MELA-AU X 117554169 117554169 single base substitution C A intron_variant MELA-AU X 117554610 117554611 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 117554731 117554731 single base substitution T G intron_variant MELA-AU X 117554766 117554766 single base substitution C T intron_variant MELA-AU X 117554938 117554938 single base substitution C T intron_variant MELA-AU X 117555933 117555933 single base substitution C T intron_variant MELA-AU X 117556057 117556057 single base substitution T C intron_variant MELA-AU X 117556419 117556419 single base substitution C T intron_variant MELA-AU X 117556501 117556501 single base substitution G A intron_variant MELA-AU X 117556630 117556630 single base substitution G A intron_variant MELA-AU X 117557003 117557003 single base substitution A C intron_variant MELA-AU X 117557352 117557352 single base substitution G A intron_variant MELA-AU X 117558129 117558129 single base substitution G A intron_variant MELA-AU X 117558136 117558136 single base substitution C T intron_variant MELA-AU X 117558313 117558313 insertion of <=200bp - TA intron_variant MELA-AU X 117558452 117558452 single base substitution G A intron_variant MELA-AU X 117560188 117560188 deletion of <=200bp T - intron_variant MELA-AU X 117560662 117560662 single base substitution C T intron_variant MELA-AU X 117561668 117561668 single base substitution C T intron_variant MELA-AU X 117562207 117562207 single base substitution C T intron_variant MELA-AU X 117562490 117562490 single base substitution C T intron_variant MELA-AU X 117562669 117562669 single base substitution A G intron_variant MELA-AU X 117562678 117562678 single base substitution G A intron_variant MELA-AU X 117562689 117562689 single base substitution C T intron_variant MELA-AU X 117562829 117562829 single base substitution G A intron_variant MELA-AU X 117563434 117563434 single base substitution C T intron_variant MELA-AU X 117563476 117563476 single base substitution C T intron_variant MELA-AU X 117564057 117564057 single base substitution G A intron_variant MELA-AU X 117564302 117564302 single base substitution C T intron_variant MELA-AU X 117565308 117565308 single base substitution C T intron_variant MELA-AU X 117565336 117565336 single base substitution A G intron_variant MELA-AU X 117565603 117565603 single base substitution C T intron_variant MELA-AU X 117565612 117565612 single base substitution C T intron_variant MELA-AU X 117566868 117566868 single base substitution C T intron_variant MELA-AU X 117567311 117567311 single base substitution C T intron_variant MELA-AU X 117567344 117567344 single base substitution G A intron_variant MELA-AU X 117567687 117567687 single base substitution G A intron_variant MELA-AU X 117569038 117569038 single base substitution C T intron_variant MELA-AU X 117569039 117569039 single base substitution G A intron_variant MELA-AU X 117569715 117569715 single base substitution G A intron_variant MELA-AU X 117571881 117571881 single base substitution C T intron_variant MELA-AU X 117571982 117571982 single base substitution C T intron_variant MELA-AU X 117572395 117572395 single base substitution T A intron_variant MELA-AU X 117572414 117572414 single base substitution G A intron_variant MELA-AU X 117573120 117573120 single base substitution C T intron_variant MELA-AU X 117574101 117574101 single base substitution A T intron_variant MELA-AU X 117575046 117575046 single base substitution C T intron_variant MELA-AU X 117575302 117575302 single base substitution G A intron_variant MELA-AU X 117575404 117575404 single base substitution C T intron_variant MELA-AU X 117575404 117575404 single base substitution C T missense_variant A582V 1745C>T MELA-AU X 117575404 117575404 single base substitution C T missense_variant A683V 2048C>T MELA-AU X 117575797 117575797 single base substitution G A intron_variant MELA-AU X 117575998 117575998 single base substitution C T intron_variant MELA-AU X 117576589 117576589 single base substitution C T missense_variant S676F 2027C>T MELA-AU X 117576589 117576589 single base substitution C T missense_variant S688F 2063C>T MELA-AU X 117576589 117576589 single base substitution C T missense_variant S777F 2330C>T MELA-AU X 117576837 117576837 single base substitution G A intron_variant MELA-AU X 117577160 117577160 single base substitution C T intron_variant MELA-AU X 117577379 117577379 single base substitution G T intron_variant MELA-AU X 117578041 117578041 single base substitution C T intron_variant MELA-AU X 117578384 117578384 single base substitution G C missense_variant L757F 2271G>C MELA-AU X 117578384 117578384 single base substitution G C missense_variant L769F 2307G>C MELA-AU X 117578384 117578384 single base substitution G C missense_variant L850F 2550G>C MELA-AU X 117578384 117578384 single base substitution G C missense_variant L858F 2574G>C MELA-AU X 117579212 117579212 single base substitution C T intron_variant MELA-AU X 117579393 117579393 single base substitution G A intron_variant MELA-AU X 117579402 117579402 single base substitution C T intron_variant MELA-AU X 117579714 117579714 single base substitution C T intron_variant MELA-AU X 117580181 117580181 single base substitution G T intron_variant MELA-AU X 117580554 117580554 single base substitution C T intron_variant MELA-AU X 117581497 117581497 single base substitution C T intron_variant MELA-AU X 117582282 117582282 single base substitution C T intron_variant MELA-AU X 117583380 117583380 single base substitution C T 3_prime_UTR_variant MELA-AU X 117583380 117583380 single base substitution C T downstream_gene_variant MELA-AU X 117583457 117583457 single base substitution C T 3_prime_UTR_variant MELA-AU X 117583457 117583457 single base substitution C T downstream_gene_variant MELA-AU X 117584183 117584183 single base substitution C T downstream_gene_variant MELA-AU X 117584835 117584835 single base substitution C T downstream_gene_variant MELA-AU X 117585032 117585032 single base substitution G A downstream_gene_variant MELA-AU X 117585102 117585102 single base substitution C T downstream_gene_variant MELA-AU X 117585233 117585233 single base substitution C T downstream_gene_variant MELA-AU X 117585824 117585824 single base substitution C T downstream_gene_variant MELA-AU X 117586579 117586579 single base substitution C T downstream_gene_variant MELA-AU X 117587632 117587632 single base substitution C T downstream_gene_variant MELA-AU X 117588395 117588395 single base substitution C T downstream_gene_variant MELA-AU X 117588460 117588460 single base substitution C T downstream_gene_variant ORCA-IN X 117532436 117532436 single base substitution G A splice_region_variant ORCA-IN X 117545873 117545873 single base substitution G A intron_variant ORCA-IN X 117547340 117547340 single base substitution C T intron_variant ORCA-IN X 117574487 117574487 single base substitution C G intron_variant OV-AU X 117476833 117476833 single base substitution G T upstream_gene_variant OV-AU X 117478818 117478818 single base substitution C T upstream_gene_variant OV-AU X 117481144 117481144 single base substitution G T intron_variant OV-AU X 117496748 117496748 single base substitution G T intron_variant OV-AU X 117502250 117502250 single base substitution G A intron_variant OV-AU X 117502940 117502940 single base substitution C A intron_variant OV-AU X 117503568 117503568 single base substitution G A intron_variant OV-AU X 117503617 117503617 single base substitution G A intron_variant OV-AU X 117505821 117505821 single base substitution T C intron_variant OV-AU X 117507360 117507360 single base substitution C G intron_variant OV-AU X 117521570 117521570 single base substitution G T intron_variant OV-AU X 117526826 117526826 single base substitution T C exon_variant OV-AU X 117526826 117526826 single base substitution T C missense_variant C115R 343T>C OV-AU X 117526826 117526826 single base substitution T C missense_variant C140R 418T>C OV-AU X 117526826 117526826 single base substitution T C missense_variant C39R 115T>C OV-AU X 117528216 117528216 single base substitution G A downstream_gene_variant OV-AU X 117528216 117528216 single base substitution G A intron_variant OV-AU X 117529542 117529542 single base substitution A G downstream_gene_variant OV-AU X 117529542 117529542 single base substitution A G intron_variant OV-AU X 117530634 117530634 single base substitution T A downstream_gene_variant OV-AU X 117530634 117530634 single base substitution T A intron_variant OV-AU X 117533125 117533125 single base substitution G T intron_variant OV-AU X 117553160 117553160 single base substitution G A intron_variant OV-AU X 117554529 117554529 single base substitution T C intron_variant OV-AU X 117555354 117555354 single base substitution A T intron_variant OV-AU X 117555417 117555417 single base substitution C T intron_variant OV-AU X 117555657 117555657 single base substitution C A intron_variant OV-AU X 117555658 117555658 single base substitution C A intron_variant OV-AU X 117558671 117558671 single base substitution G C intron_variant OV-AU X 117565056 117565056 single base substitution A T intron_variant OV-AU X 117571728 117571728 single base substitution C T intron_variant OV-AU X 117572044 117572044 single base substitution C T intron_variant OV-AU X 117587077 117587077 single base substitution C A downstream_gene_variant PACA-AU X 117476644 117476644 single base substitution C A upstream_gene_variant PACA-AU X 117478160 117478160 single base substitution C T upstream_gene_variant PACA-AU X 117490451 117490451 deletion of <=200bp T - intron_variant PACA-AU X 117491498 117491498 single base substitution A T intron_variant PACA-AU X 117502457 117502457 single base substitution C A intron_variant PACA-AU X 117509493 117509493 single base substitution A T intron_variant PACA-AU X 117515396 117515396 single base substitution T C intron_variant PACA-AU X 117515411 117515411 single base substitution G T intron_variant PACA-AU X 117527895 117527895 single base substitution C A downstream_gene_variant PACA-AU X 117527895 117527895 single base substitution C A intron_variant PACA-AU X 117530448 117530448 single base substitution G A downstream_gene_variant PACA-AU X 117530448 117530448 single base substitution G A intron_variant PACA-AU X 117531842 117531842 single base substitution C T downstream_gene_variant PACA-AU X 117531842 117531842 single base substitution C T intron_variant PACA-AU X 117533127 117533127 single base substitution A C intron_variant PACA-AU X 117541397 117541397 single base substitution G A intron_variant PACA-AU X 117550164 117550164 single base substitution G T intron_variant PACA-AU X 117550249 117550249 single base substitution G T intron_variant PACA-AU X 117557002 117557002 single base substitution C T intron_variant PACA-AU X 117565760 117565760 single base substitution G A intron_variant PACA-AU X 117566294 117566294 single base substitution A G intron_variant PACA-AU X 117577333 117577333 single base substitution A C intron_variant PACA-CA X 117476982 117476982 single base substitution C G upstream_gene_variant PACA-CA X 117478082 117478082 single base substitution G T upstream_gene_variant PACA-CA X 117481676 117481676 single base substitution G C intron_variant PACA-CA X 117481818 117481818 single base substitution G T intron_variant PACA-CA X 117484081 117484081 single base substitution G A intron_variant PACA-CA X 117486651 117486651 single base substitution C T intron_variant PACA-CA X 117488807 117488807 single base substitution G A intron_variant PACA-CA X 117488974 117488974 single base substitution C T intron_variant PACA-CA X 117492565 117492565 single base substitution G A intron_variant PACA-CA X 117492802 117492802 single base substitution G A intron_variant PACA-CA X 117494969 117494969 single base substitution T C intron_variant PACA-CA X 117495464 117495464 single base substitution C T intron_variant PACA-CA X 117500377 117500377 deletion of <=200bp A - intron_variant PACA-CA X 117500864 117500864 single base substitution C T intron_variant PACA-CA X 117501953 117501953 insertion of <=200bp - A intron_variant PACA-CA X 117503589 117503589 single base substitution G T intron_variant PACA-CA X 117506371 117506371 single base substitution C T intron_variant PACA-CA X 117510787 117510787 single base substitution C T intron_variant PACA-CA X 117512115 117512115 single base substitution C T intron_variant PACA-CA X 117513383 117513383 single base substitution G A intron_variant PACA-CA X 117514076 117514076 insertion of <=200bp - T intron_variant PACA-CA X 117516592 117516592 single base substitution G T intron_variant PACA-CA X 117517923 117517923 single base substitution G T intron_variant PACA-CA X 117518016 117518016 deletion of <=200bp T - intron_variant PACA-CA X 117518729 117518729 single base substitution G T intron_variant PACA-CA X 117519414 117519414 single base substitution G C intron_variant PACA-CA X 117534020 117534020 single base substitution C T intron_variant PACA-CA X 117536124 117536124 single base substitution G A intron_variant PACA-CA X 117538457 117538457 single base substitution G A intron_variant PACA-CA X 117561596 117561596 single base substitution G A intron_variant PACA-CA X 117566782 117566782 single base substitution C T synonymous_variant N491N 1473C>T PACA-CA X 117566782 117566782 single base substitution C T synonymous_variant N567N 1701C>T PACA-CA X 117566782 117566782 single base substitution C T synonymous_variant N592N 1776C>T PACA-CA X 117567081 117567081 single base substitution A T intron_variant PACA-CA X 117573782 117573782 single base substitution A G intron_variant PACA-CA X 117575713 117575713 single base substitution T A intron_variant PACA-CA X 117582126 117582126 single base substitution A G intron_variant PACA-CA X 117584651 117584651 single base substitution G A downstream_gene_variant PAEN-AU X 117550845 117550845 single base substitution A G intron_variant PAEN-IT X 117545945 117545945 single base substitution G A intron_variant PAEN-IT X 117577287 117577287 single base substitution A T intron_variant PBCA-DE X 117475446 117475446 single base substitution G T upstream_gene_variant PBCA-DE X 117477864 117477864 single base substitution G A upstream_gene_variant PBCA-DE X 117485300 117485300 single base substitution A G intron_variant PBCA-DE X 117488583 117488583 insertion of <=200bp - T intron_variant PBCA-DE X 117501951 117501951 deletion of <=200bp T - intron_variant PBCA-DE X 117503914 117503914 single base substitution T G intron_variant PBCA-DE X 117508776 117508776 single base substitution T C intron_variant PBCA-DE X 117512673 117512674 deletion of <=200bp GT - intron_variant PBCA-DE X 117513796 117513796 single base substitution C T intron_variant PBCA-DE X 117522931 117522931 deletion of <=200bp T - intron_variant PBCA-DE X 117522931 117522931 deletion of <=200bp T - upstream_gene_variant PBCA-DE X 117530913 117530913 insertion of <=200bp - T downstream_gene_variant PBCA-DE X 117530913 117530913 insertion of <=200bp - T intron_variant PBCA-DE X 117556558 117556558 single base substitution G A intron_variant PBCA-DE X 117569535 117569535 single base substitution T C intron_variant PBCA-DE X 117572437 117572437 single base substitution C A intron_variant PBCA-DE X 117574481 117574481 single base substitution C A intron_variant PBCA-DE X 117586325 117586325 single base substitution G T downstream_gene_variant PRAD-CA X 117558246 117558246 single base substitution G A intron_variant PRAD-UK X 117520285 117520285 single base substitution T G intron_variant PRAD-UK X 117558288 117558288 insertion of <=200bp - GTGTATATATATATAT intron_variant PRAD-UK X 117567885 117567885 single base substitution G T intron_variant PRAD-UK X 117570614 117570614 single base substitution A G intron_variant PRAD-UK X 117570615 117570615 single base substitution G T intron_variant PRAD-UK X 117572759 117572759 insertion of <=200bp - TGTTTTTT intron_variant PRAD-UK X 117586041 117586041 single base substitution C T downstream_gene_variant READ-US X 117570668 117570668 single base substitution T G missense_variant Y518D 1552T>G READ-US X 117570668 117570668 single base substitution T G missense_variant Y594D 1780T>G READ-US X 117570668 117570668 single base substitution T G missense_variant Y619D 1855T>G READ-US X 117577623 117577623 single base substitution C T missense_variant R728C 2182C>T READ-US X 117577623 117577623 single base substitution C T missense_variant R740C 2218C>T READ-US X 117577623 117577623 single base substitution C T missense_variant R821C 2461C>T READ-US X 117577623 117577623 single base substitution C T missense_variant R829C 2485C>T RECA-EU X 117490655 117490655 single base substitution A C intron_variant RECA-EU X 117493328 117493328 single base substitution T A intron_variant RECA-EU X 117498061 117498061 single base substitution T A intron_variant RECA-EU X 117500830 117500830 single base substitution G A intron_variant RECA-EU X 117507659 117507659 single base substitution T C intron_variant RECA-EU X 117513495 117513495 single base substitution A G intron_variant RECA-EU X 117513503 117513503 single base substitution A G intron_variant RECA-EU X 117532084 117532084 single base substitution C G downstream_gene_variant RECA-EU X 117532084 117532084 single base substitution C G intron_variant RECA-EU X 117543963 117543963 single base substitution G T intron_variant RECA-EU X 117552657 117552657 single base substitution C G intron_variant RECA-EU X 117552739 117552739 single base substitution C T intron_variant RECA-EU X 117554145 117554145 single base substitution A T intron_variant SKCA-BR X 117479063 117479063 single base substitution C T upstream_gene_variant SKCA-BR X 117481283 117481283 single base substitution C G intron_variant SKCA-BR X 117482310 117482310 single base substitution A G intron_variant SKCA-BR X 117484519 117484519 single base substitution T C intron_variant SKCA-BR X 117502422 117502422 insertion of <=200bp - CTATATATATATATA intron_variant SKCA-BR X 117504060 117504060 single base substitution G A intron_variant SKCA-BR X 117505972 117505972 single base substitution T G intron_variant SKCA-BR X 117511678 117511682 deletion of <=200bp TTCTC - intron_variant SKCA-BR X 117515640 117515640 single base substitution A T intron_variant SKCA-BR X 117520541 117520541 single base substitution C T intron_variant SKCA-BR X 117528374 117528374 single base substitution C T downstream_gene_variant SKCA-BR X 117528374 117528374 single base substitution C T intron_variant SKCA-BR X 117529124 117529124 single base substitution G A downstream_gene_variant SKCA-BR X 117529124 117529124 single base substitution G A intron_variant SKCA-BR X 117536421 117536421 insertion of <=200bp - AG intron_variant SKCA-BR X 117537453 117537453 single base substitution C T intron_variant SKCA-BR X 117537562 117537562 single base substitution C T intron_variant SKCA-BR X 117539955 117539955 single base substitution T G intron_variant SKCA-BR X 117540168 117540168 single base substitution G A intron_variant SKCA-BR X 117542359 117542361 deletion of <=200bp CTT - intron_variant SKCA-BR X 117542840 117542840 single base substitution G A intron_variant SKCA-BR X 117544082 117544082 single base substitution G C intron_variant SKCA-BR X 117547404 117547404 single base substitution G A intron_variant SKCA-BR X 117547623 117547623 single base substitution C T intron_variant SKCA-BR X 117547624 117547624 single base substitution C A intron_variant SKCA-BR X 117550395 117550395 single base substitution C T intron_variant SKCA-BR X 117550692 117550692 single base substitution C T intron_variant SKCA-BR X 117551453 117551453 single base substitution G C intron_variant SKCA-BR X 117558312 117558312 single base substitution G A intron_variant SKCA-BR X 117559084 117559084 single base substitution G A intron_variant SKCA-BR X 117561679 117561679 single base substitution C T intron_variant SKCA-BR X 117563050 117563050 single base substitution G A intron_variant SKCA-BR X 117569038 117569038 single base substitution C T intron_variant SKCA-BR X 117569408 117569408 insertion of <=200bp - AT intron_variant SKCA-BR X 117569757 117569757 single base substitution T C intron_variant SKCA-BR X 117572701 117572701 single base substitution C T intron_variant SKCA-BR X 117574298 117574298 single base substitution C T intron_variant SKCA-BR X 117580110 117580110 single base substitution C T intron_variant SKCA-BR X 117581838 117581838 insertion of <=200bp - AATATAT intron_variant SKCA-BR X 117588725 117588725 single base substitution C T downstream_gene_variant SKCM-US X 117526679 117526679 single base substitution G T exon_variant SKCM-US X 117526679 117526679 single base substitution G T missense_variant D66Y 196G>T SKCM-US X 117526679 117526679 single base substitution G T missense_variant D91Y 271G>T SKCM-US X 117526679 117526679 single base substitution G T upstream_gene_variant SKCM-US X 117526915 117526915 single base substitution T G exon_variant SKCM-US X 117526915 117526915 single base substitution T G synonymous_variant L144L 432T>G SKCM-US X 117526915 117526915 single base substitution T G synonymous_variant L169L 507T>G SKCM-US X 117526915 117526915 single base substitution T G synonymous_variant L68L 204T>G SKCM-US X 117527156 117527156 single base substitution C T exon_variant SKCM-US X 117527156 117527156 single base substitution C T missense_variant P149S 445C>T SKCM-US X 117527156 117527156 single base substitution C T missense_variant P225S 673C>T SKCM-US X 117527156 117527156 single base substitution C T missense_variant P250S 748C>T SKCM-US X 117527200 117527200 single base substitution G A downstream_gene_variant SKCM-US X 117527200 117527200 single base substitution G A synonymous_variant L163L 489G>A SKCM-US X 117527200 117527200 single base substitution G A synonymous_variant L239L 717G>A SKCM-US X 117527200 117527200 single base substitution G A synonymous_variant L264L 792G>A SKCM-US X 117528104 117528104 single base substitution G A downstream_gene_variant SKCM-US X 117528104 117528104 single base substitution G A missense_variant D204N 610G>A SKCM-US X 117528104 117528104 single base substitution G A missense_variant D280N 838G>A SKCM-US X 117528104 117528104 single base substitution G A missense_variant D305N 913G>A SKCM-US X 117529212 117529212 single base substitution G A downstream_gene_variant SKCM-US X 117529212 117529212 single base substitution G A missense_variant E219K 655G>A SKCM-US X 117529212 117529212 single base substitution G A missense_variant E295K 883G>A SKCM-US X 117529212 117529212 single base substitution G A missense_variant E320K 958G>A SKCM-US X 117531026 117531026 single base substitution C T downstream_gene_variant SKCM-US X 117531026 117531026 single base substitution C T missense_variant P282S 844C>T SKCM-US X 117531026 117531026 single base substitution C T missense_variant P358S 1072C>T SKCM-US X 117531026 117531026 single base substitution C T missense_variant P383S 1147C>T SKCM-US X 117532377 117532377 single base substitution A G synonymous_variant E305E 915A>G SKCM-US X 117532377 117532377 single base substitution A G synonymous_variant E381E 1143A>G SKCM-US X 117532377 117532377 single base substitution A G synonymous_variant E406E 1218A>G SKCM-US X 117566802 117566802 single base substitution C T missense_variant P498L 1493C>T SKCM-US X 117566802 117566802 single base substitution C T missense_variant P574L 1721C>T SKCM-US X 117566802 117566802 single base substitution C T missense_variant P599L 1796C>T SKCM-US X 117576579 117576579 single base substitution T A missense_variant L673M 2017T>A SKCM-US X 117576579 117576579 single base substitution T A missense_variant L685M 2053T>A SKCM-US X 117576579 117576579 single base substitution T A missense_variant L774M 2320T>A STAD-US X 117480540 117480540 single base substitution T G exon_variant STAD-US X 117480540 117480540 single base substitution T G missense_variant V25G 74T>G STAD-US X 117512387 117512387 single base substitution C A intron_variant STAD-US X 117512387 117512387 single base substitution C A missense_variant P28Q 83C>A STAD-US X 117527127 117527127 single base substitution C G exon_variant STAD-US X 117527127 117527127 single base substitution C G missense_variant T139S 416C>G STAD-US X 117527127 117527127 single base substitution C G missense_variant T215S 644C>G STAD-US X 117527127 117527127 single base substitution C G missense_variant T240S 719C>G STAD-US X 117528054 117528054 single base substitution C T downstream_gene_variant STAD-US X 117528054 117528054 single base substitution C T missense_variant T187I 560C>T STAD-US X 117528054 117528054 single base substitution C T missense_variant T263I 788C>T STAD-US X 117528054 117528054 single base substitution C T missense_variant T288I 863C>T STAD-US X 117529236 117529236 single base substitution C T downstream_gene_variant STAD-US X 117529236 117529236 single base substitution C T stop_gained Q227* 679C>T STAD-US X 117529236 117529236 single base substitution C T stop_gained Q303* 907C>T STAD-US X 117529236 117529236 single base substitution C T stop_gained Q328* 982C>T STAD-US X 117532356 117532356 single base substitution C T synonymous_variant D298D 894C>T STAD-US X 117532356 117532356 single base substitution C T synonymous_variant D374D 1122C>T STAD-US X 117532356 117532356 single base substitution C T synonymous_variant D399D 1197C>T STAD-US X 117575479 117575479 single base substitution T C intron_variant STAD-US X 117575479 117575479 single base substitution T C missense_variant V607A 1820T>C STAD-US X 117575479 117575479 single base substitution T C missense_variant V708A 2123T>C STAD-US X 117576542 117576542 single base substitution A G synonymous_variant S660S 1980A>G STAD-US X 117576542 117576542 single base substitution A G synonymous_variant S672S 2016A>G STAD-US X 117576542 117576542 single base substitution A G synonymous_variant S761S 2283A>G STAD-US X 117577561 117577561 single base substitution A C missense_variant K707T 2120A>C STAD-US X 117577561 117577561 single base substitution A C missense_variant K719T 2156A>C STAD-US X 117577561 117577561 single base substitution A C missense_variant K800T 2399A>C STAD-US X 117577561 117577561 single base substitution A C missense_variant K808T 2423A>C UCEC-US X 117480471 117480471 single base substitution C T exon_variant UCEC-US X 117480471 117480471 single base substitution C T missense_variant A2V 5C>T UCEC-US X 117520365 117520365 insertion of <=200bp - AT intron_variant UCEC-US X 117520366 117520367 deletion of <=200bp AT - intron_variant UCEC-US X 117520382 117520382 single base substitution A G intron_variant UCEC-US X 117521351 117521351 single base substitution G T exon_variant UCEC-US X 117521351 117521351 single base substitution G T intron_variant UCEC-US X 117521351 117521351 single base substitution G T stop_gained E54* 160G>T UCEC-US X 117526698 117526698 single base substitution C A exon_variant UCEC-US X 117526698 117526698 single base substitution C A missense_variant P72H 215C>A UCEC-US X 117526698 117526698 single base substitution C A missense_variant P97H 290C>A UCEC-US X 117526698 117526698 single base substitution C A upstream_gene_variant UCEC-US X 117526732 117526732 single base substitution C T exon_variant UCEC-US X 117526732 117526732 single base substitution C T synonymous_variant P108P 324C>T UCEC-US X 117526732 117526732 single base substitution C T synonymous_variant P7P 21C>T UCEC-US X 117526732 117526732 single base substitution C T synonymous_variant P83P 249C>T UCEC-US X 117526798 117526798 single base substitution T C exon_variant UCEC-US X 117526798 117526798 single base substitution T C synonymous_variant F105F 315T>C UCEC-US X 117526798 117526798 single base substitution T C synonymous_variant F130F 390T>C UCEC-US X 117526798 117526798 single base substitution T C synonymous_variant F29F 87T>C UCEC-US X 117526873 117526873 single base substitution G A exon_variant UCEC-US X 117526873 117526873 single base substitution G A synonymous_variant T130T 390G>A UCEC-US X 117526873 117526873 single base substitution G A synonymous_variant T155T 465G>A UCEC-US X 117526873 117526873 single base substitution G A synonymous_variant T54T 162G>A UCEC-US X 117527195 117527195 single base substitution G A downstream_gene_variant UCEC-US X 117527195 117527195 single base substitution G A missense_variant E162K 484G>A UCEC-US X 117527195 117527195 single base substitution G A missense_variant E238K 712G>A UCEC-US X 117527195 117527195 single base substitution G A missense_variant E263K 787G>A UCEC-US X 117528037 117528037 single base substitution G A downstream_gene_variant UCEC-US X 117528037 117528037 single base substitution G A synonymous_variant T181T 543G>A UCEC-US X 117528037 117528037 single base substitution G A synonymous_variant T257T 771G>A UCEC-US X 117528037 117528037 single base substitution G A synonymous_variant T282T 846G>A UCEC-US X 117528090 117528090 single base substitution C A downstream_gene_variant UCEC-US X 117528090 117528090 single base substitution C A missense_variant S199Y 596C>A UCEC-US X 117528090 117528090 single base substitution C A missense_variant S275Y 824C>A UCEC-US X 117528090 117528090 single base substitution C A missense_variant S300Y 899C>A UCEC-US X 117529212 117529212 single base substitution G A downstream_gene_variant UCEC-US X 117529212 117529212 single base substitution G A missense_variant E219K 655G>A UCEC-US X 117529212 117529212 single base substitution G A missense_variant E295K 883G>A UCEC-US X 117529212 117529212 single base substitution G A missense_variant E320K 958G>A UCEC-US X 117532380 117532380 single base substitution G T missense_variant E306D 918G>T UCEC-US X 117532380 117532380 single base substitution G T missense_variant E382D 1146G>T UCEC-US X 117532380 117532380 single base substitution G T missense_variant E407D 1221G>T UCEC-US X 117540870 117540870 single base substitution A G missense_variant S371G 1111A>G UCEC-US X 117540870 117540870 single base substitution A G missense_variant S447G 1339A>G UCEC-US X 117540870 117540870 single base substitution A G missense_variant S472G 1414A>G UCEC-US X 117540961 117540961 single base substitution T C missense_variant V401A 1202T>C UCEC-US X 117540961 117540961 single base substitution T C missense_variant V477A 1430T>C UCEC-US X 117540961 117540961 single base substitution T C missense_variant V502A 1505T>C UCEC-US X 117543590 117543590 single base substitution G T stop_gained G457* 1369G>T UCEC-US X 117543590 117543590 single base substitution G T stop_gained G533* 1597G>T UCEC-US X 117543590 117543590 single base substitution G T stop_gained G558* 1672G>T UCEC-US X 117566793 117566793 single base substitution G A missense_variant R495Q 1484G>A UCEC-US X 117566793 117566793 single base substitution G A missense_variant R571Q 1712G>A UCEC-US X 117566793 117566793 single base substitution G A missense_variant R596Q 1787G>A UCEC-US X 117566843 117566843 single base substitution C A missense_variant L512I 1534C>A UCEC-US X 117566843 117566843 single base substitution C A missense_variant L588I 1762C>A UCEC-US X 117566843 117566843 single base substitution C A missense_variant L613I 1837C>A UCEC-US X 117575510 117575510 single base substitution C A intron_variant UCEC-US X 117575510 117575510 single base substitution C A missense_variant F617L 1851C>A UCEC-US X 117575510 117575510 single base substitution C A missense_variant F718L 2154C>A UCEC-US X 117576289 117576289 single base substitution C A missense_variant P649H 1946C>A UCEC-US X 117576289 117576289 single base substitution C A missense_variant P661H 1982C>A UCEC-US X 117576289 117576289 single base substitution C A missense_variant P750H 2249C>A UCEC-US X 117576532 117576532 single base substitution T C missense_variant L657S 1970T>C UCEC-US X 117576532 117576532 single base substitution T C missense_variant L669S 2006T>C UCEC-US X 117576532 117576532 single base substitution T C missense_variant L758S 2273T>C UCEC-US X 117577542 117577542 single base substitution G A missense_variant V701I 2101G>A UCEC-US X 117577542 117577542 single base substitution G A missense_variant V713I 2137G>A UCEC-US X 117577542 117577542 single base substitution G A missense_variant V802I 2404G>A UCEC-US X 117577542 117577542 single base substitution G A splice_region_variant UCEC-US X 117577606 117577606 single base substitution C A missense_variant T722N 2165C>A UCEC-US X 117577606 117577606 single base substitution C A missense_variant T734N 2201C>A UCEC-US X 117577606 117577606 single base substitution C A missense_variant T815N 2444C>A UCEC-US X 117577606 117577606 single base substitution C A missense_variant T823N 2468C>A UCEC-US X 117577650 117577650 single base substitution G T missense_variant A737S 2209G>T UCEC-US X 117577650 117577650 single base substitution G T missense_variant A749S 2245G>T UCEC-US X 117577650 117577650 single base substitution G T missense_variant A830S 2488G>T UCEC-US X 117577650 117577650 single base substitution G T missense_variant A838S 2512G>T UCEC-US X 117582888 117582888 single base substitution C A 3_prime_UTR_variant UCEC-US X 117582888 117582888 single base substitution C A missense_variant L805I 2413C>A UCEC-US X 117582888 117582888 single base substitution C A missense_variant L886I 2656C>A UCEC-US X 117582888 117582888 single base substitution C A missense_variant L894I 2680C>A UCEC-US X 117582934 117582934 single base substitution G T 3_prime_UTR_variant UCEC-US X 117582934 117582934 single base substitution G T missense_variant R820I 2459G>T UCEC-US X 117582934 117582934 single base substitution G T missense_variant R901I 2702G>T UCEC-US X 117582934 117582934 single base substitution G T missense_variant R909I 2726G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Pat_15_A COSM5876928 c.1793G>A p.R598Q Substitution - Missense 23:118432836-118432836 + TCGA-B5-A0JY-01 COSM1113612 c.290C>A p.P97H Substitution - Missense 23:118392735-118392735 + TCGA-BT-A2LB-01 COSM3800361 c.1664A>G p.N555S Substitution - Missense 23:118409619-118409619 + TCGA-FS-A4F5-06 COSM3557129 c.1147C>T p.P383S Substitution - Missense 23:118397063-118397063 + Gp2D COSM4628953 c.1811A>G p.K604R Substitution - Missense 23:118432854-118432854 + I2L-P26-Tumor-Organoid COSM5367297 c.1652G>A p.R551Q Substitution - Missense 23:118409607-118409607 + P05-3829 COSM248322 c.317A>G p.N106S Substitution - Missense 23:118392762-118392762 + TCGA-EE-A2GO-06 COSM3557131 c.1218A>G p.E406E Substitution - coding silent 23:118398414-118398414 + ESO-539 COSM1270396 c.722A>G p.N241S Substitution - Missense 23:118393167-118393167 + I2L-P19Ta-Tumor-Biopsy COSM5366954 c.1053G>T p.E351D Substitution - Missense 23:118395344-118395344 + TCGA-AP-A0LM-01 COSM1113638 c.1837C>A p.L613I Substitution - Missense 23:118432880-118432880 + sysucc-274T COSM5476896 c.1795C>T p.P599S Substitution - Missense 23:118432838-118432838 + TCGA-CD-A48C-01 COSM4106078 c.2423A>C p.K808T Substitution - Missense 23:118443598-118443598 + TCGA-A8-A09Z-01 COSM3843311 c.1853A>G p.N618S Substitution - Missense 23:118436703-118436703 + TCGA-EE-A3JB-06 COSM4898814 c.507T>G p.L169L Substitution - coding silent 23:118392952-118392952 + TCGA-AP-A051-01 COSM1113646 c.2404G>A p.V802I Substitution - Missense 23:118443579-118443579 + TCGA-DK-A3X1-01 COSM3800363 c.2291C>G p.S764C Substitution - Missense 23:118442587-118442587 + TCGA-ER-A19P-06 COSM3557127 c.913G>A p.D305N Substitution - Missense 23:118394141-118394141 + TCGA-B5-A0JY-01 COSM1113618 c.465G>A p.T155T Substitution - coding silent 23:118392910-118392910 + TCGA-34-5927-01 COSM754494 c.611C>G p.A204G Substitution - Missense 23:118393056-118393056 + HCC137T COSM1625432 c.2534C>G p.S845* Substitution - Nonsense 23:118444381-118444381 + S02139 COSM5674688 c.349C>A p.L117I Substitution - Missense 23:118392794-118392794 + Pat_15_B COSM5876928 c.1793G>A p.R598Q Substitution - Missense 23:118432836-118432836 + 1910786 COSM1113620 c.787G>A p.E263K Substitution - Missense 23:118393232-118393232 + CHC892T COSM4961012 c.1788G>A p.R596R Substitution - coding silent 23:118432831-118432831 + 2334195 COSM324294 c.1672G>T p.G558* Substitution - Nonsense 23:118409627-118409627 + TCGA-D8-A27G-01 COSM3843305 c.901C>T p.Q301* Substitution - Nonsense 23:118394129-118394129 + BD236T COSM5519904 c.2111G>A p.G704D Substitution - Missense 23:118441504-118441504 + NCI-H2009 COSM25523 c.207G>C p.E69D Substitution - Missense 23:118392652-118392652 + TCGA-F5-6814-01 COSM3424373 c.1855T>G p.Y619D Substitution - Missense 23:118436705-118436705 + XHDG32 COSM4769393 c.1001T>C p.V334A Substitution - Missense 23:118395292-118395292 + TCGA-A5-A0GU-01 COSM1113628 c.1172G>T p.R391M Substitution - Missense 23:118397088-118397088 + TCGA-23-2072-01 COSM73279 c.613G>A p.A205T Substitution - Missense 23:118393058-118393058 + TCGA-BR-4368-01 COSM4106072 c.982C>T p.Q328* Substitution - Nonsense 23:118395273-118395273 + 587332 COSM1232590 c.2693T>C p.F898S Substitution - Missense 23:118448938-118448938 + 10-276 COSM3736897 c.257G>A p.G86E Substitution - Missense 23:118392702-118392702 + TCGA-B5-A0JY-01 COSM1113630 c.1221G>T p.E407D Substitution - Missense 23:118398417-118398417 + ESCC_100 COSM5637908 c.353C>T p.P118L Substitution - Missense 23:118392798-118392798 + TCGA-D1-A176-01 COSM1113632 c.1414A>G p.S472G Substitution - Missense 23:118406907-118406907 + TCGA-Q1-A73O-01 COSM4835760 c.1249G>A p.D417N Substitution - Missense 23:118398445-118398445 + TCGA-AD-6965-01 COSM1465126 c.1854C>T p.N618N Substitution - coding silent 23:118436704-118436704 + T2963 COSM4740956 c.9G>A p.S3S Substitution - coding silent 23:118346512-118346512 + 166 COSM97953 c.2085C>G p.I695M Substitution - Missense 23:118441478-118441478 + 4989_CLM COSM5757472 c.2349C>T p.Y783Y Substitution - coding silent 23:118442645-118442645 + TCGA-A8-A0A6-01 COSM3843303 c.729A>C p.P243P Substitution - coding silent 23:118393174-118393174 + TCGA-CZ-5467-01 COSM487844 c.2057A>G p.N686S Substitution - Missense 23:118441450-118441450 + TCGA-D1-A103-01 COSM1113622 c.846G>A p.T282T Substitution - coding silent 23:118394074-118394074 + TCGA-AX-A063-01 COSM1113634 c.1505T>C p.V502A Substitution - Missense 23:118406998-118406998 + TCGA-B5-A11E-01 COSM1113610 c.160G>T p.E54* Substitution - Nonsense 23:118387388-118387388 + TCGA-BS-A0UF-01 COSM1113650 c.2512G>T p.A838S Substitution - Missense 23:118443687-118443687 + 587238 COSM1232588 c.2212C>T p.R738C Substitution - Missense 23:118442289-118442289 + TCGA-BR-6452-01 COSM4106070 c.863C>T p.T288I Substitution - Missense 23:118394091-118394091 + 425 COSM4432809 c.2702_2705delCAAT p.I902fs*>11 Deletion - Frameshift 23:118448947-118448950 + TCGA-CK-5913-01 COSM1465132 c.2241C>T p.G747G Substitution - coding silent 23:118442318-118442318 + EGC15 COSM5064295 c.2234T>A p.I745N Substitution - Missense 23:118442311-118442311 + TCGA-EW-A1IY-01 COSM1490393 c.2605G>A p.E869K Substitution - Missense 23:118444452-118444452 + PA107 COSM1162468 c.837G>A p.E279E Substitution - coding silent 23:118394065-118394065 + 177-01-9TD COSM5416082 c.228G>A p.Q76Q Substitution - coding silent 23:118392673-118392673 + BK0020 COSM4186264 c.2054delG p.W685fs*1 Deletion - Frameshift 23:118441447-118441447 + TCGA-AZ-4315-01 COSM1465124 c.1628C>T p.A543V Substitution - Missense 23:118409583-118409583 + HCC70T COSM2722953 c.888G>A p.T296T Substitution - coding silent 23:118394116-118394116 + TCGA-B5-A11E-01 COSM1113648 c.2468C>A p.T823N Substitution - Missense 23:118443643-118443643 + TCGA-AP-A056-01 COSM1113624 c.899C>A p.S300Y Substitution - Missense 23:118394127-118394127 + TCGA-63-6202-01 COSM754488 c.1793G>C p.R598P Substitution - Missense 23:118432836-118432836 + TCGA-BS-A0UV-01 COSM1113620 c.787G>A p.E263K Substitution - Missense 23:118393232-118393232 + I2L-P19Ta-Tumor-Organoid COSM5366954 c.1053G>T p.E351D Substitution - Missense 23:118395344-118395344 + TCGA-D1-A17Q-01 COSM1113653 c.2726G>T p.R909I Substitution - Missense 23:118448971-118448971 + TCGA-CH-5769-01 COSM1472269 c.2501A>G p.E834G Substitution - Missense 23:118443676-118443676 + YUQUEST COSM5411842 c.858C>T p.L286L Substitution - coding silent 23:118394086-118394086 + BD72T COSM5513857 c.1780C>A p.P594T Substitution - Missense 23:118432823-118432823 + TCGA-AP-A059-01 COSM1113614 c.324C>T p.P108P Substitution - coding silent 23:118392769-118392769 + TCGA-DK-A3IS-01 COSM1315131 c.1841C>T p.S614L Substitution - Missense 23:118432884-118432884 + CSCC-11-T COSM4527211 c.1447G>C p.V483L Substitution - Missense 23:118406940-118406940 + SNUH_G50_S1 COSM3681517 c.779G>A p.R260K Substitution - Missense 23:118393224-118393224 + TCGA-EE-A3AF-06 COSM1113626 c.959-1G>A p.? Unknown 23:118395249-118395249 + TCGA-AO-A03M-01 COSM3843301 c.667G>C p.D223H Substitution - Missense 23:118393112-118393112 + TCGA-BS-A0UV-01 COSM1113652 c.2680C>A p.L894I Substitution - Missense 23:118448925-118448925 + TCGA-F5-6814-01 COSM3424375 c.2485C>T p.R829C Substitution - Missense 23:118443660-118443660 + T2944 COSM1490393 c.2605G>A p.E869K Substitution - Missense 23:118444452-118444452 + 587342 COSM1232591 c.1813G>T p.G605* Substitution - Nonsense 23:118432856-118432856 + TCGA-AP-A059-01 COSM1113650 c.2512G>T p.A838S Substitution - Missense 23:118443687-118443687 + pfg029T COSM1643928 c.1672+1G>C p.? Unknown 23:118409628-118409628 + MPCC_0037_Pa_C COSM3759339 c.1776C>T p.N592N Substitution - coding silent 23:118432819-118432819 + TCGA-FS-A1ZZ-06 COSM1113626 c.959-1G>A p.? Unknown 23:118395249-118395249 + I2L-P19Tb-Tumor-Organoid COSM2722927 c.411delA p.K139fs*13 Deletion - Frameshift 23:118392856-118392856 + TCGA-AP-A051-01 COSM1113636 c.1787G>A p.R596Q Substitution - Missense 23:118432830-118432830 + MN-249 COSM1578672 c.1439C>T p.T480I Substitution - Missense 23:118406932-118406932 + 288 COSM3724170 c.1874C>T p.S625L Substitution - Missense 23:118436724-118436724 + TCGA-BF-A3DL-01 COSM4904972 c.748C>T p.P250S Substitution - Missense 23:118393193-118393193 + PT35 COSM5914527 c.1737+7T>C p.? Unknown 23:118410966-118410966 + PD4107a COSM165569 c.2239G>C p.G747R Substitution - Missense 23:118442316-118442316 + TCGA-G4-6586-01 COSM3694286 c.1343A>G p.E448G Substitution - Missense 23:118404406-118404406 + TCGA-BS-A0UV-01 COSM1113644 c.2273T>C p.L758S Substitution - Missense 23:118442569-118442569 + B104-0 COSM1756352 c.1534-2A>G p.? Unknown 23:118409487-118409487 + PT33 COSM5910110 c.2282C>T p.S761L Substitution - Missense 23:118442578-118442578 + 587376 COSM1232593 c.1553A>C p.K518T Substitution - Missense 23:118409508-118409508 + TCGA-AM-5821-01 COSM3759339 c.1776C>T p.N592N Substitution - coding silent 23:118432819-118432819 + TCGA-AM-5821-01 COSM3759335 c.147G>A p.E49E Substitution - coding silent 23:118387375-118387375 + GC8_T COSM150810 c.612C>T p.A204A Substitution - coding silent 23:118393057-118393057 + TCGA-C8-A26Y-01 COSM3843315 c.1969C>G p.P657A Substitution - Missense 23:118436819-118436819 + TCGA-A8-A0A1-01 COSM456559 c.150C>T p.S50S Substitution - coding silent 23:118387378-118387378 + LC_S21 COSM1190617 c.457G>A p.E153K Substitution - Missense 23:118392902-118392902 + ESO-708 COSM1270398 c.2673A>C p.E891D Substitution - Missense 23:118448918-118448918 + SKNEP1 COSM2722975 c.1651C>T p.R551* Substitution - Nonsense 23:118409606-118409606 + T2940 COSM4740960 c.2026A>G p.N676D Substitution - Missense 23:118441419-118441419 + TCGA-AG-A002-01 COSM264689 c.749C>A p.P250H Substitution - Missense 23:118393194-118393194 + TCGA-DS-A1OC-01 COSM1294481 c.2035G>A p.D679N Substitution - Missense 23:118441428-118441428 + TCGA-GC-A3RB-01 COSM1315133 c.2604C>G p.N868K Substitution - Missense 23:118444451-118444451 + 520 COSM5611547 c.2176_2177TA>CT p.Y726L Substitution - Missense 23:118442253-118442254 + TCGA-D1-A15X-01 COSM324294 c.1672G>T p.G558* Substitution - Nonsense 23:118409627-118409627 + LB647-SCLC COSM25546 c.2206A>G p.R736G Substitution - Missense 23:118442283-118442283 + BD72T COSM5513855 c.58delG p.G21fs*35 Deletion - Frameshift 23:118346561-118346561 + TCGA-AR-A5QP-01 COSM3843309 c.1786C>T p.R596W Substitution - Missense 23:118432829-118432829 + TCGA-HU-8602-01 COSM4106066 c.83C>A p.P28Q Substitution - Missense 23:118378424-118378424 + 18 COSM1241897 c.1345C>T p.R449C Substitution - Missense 23:118404408-118404408 + CN-AML-NR-08-Dx COSM150812 c.951C>T p.T317T Substitution - coding silent 23:118394179-118394179 + TCGA-A6-5661-01 COSM1465128 c.2017C>T p.R673C Substitution - Missense 23:118441410-118441410 + CN-AML-NR-08-Dx COSM3759339 c.1776C>T p.N592N Substitution - coding silent 23:118432819-118432819 + TCGA-AP-A054-01 COSM1113616 c.390T>C p.F130F Substitution - coding silent 23:118392835-118392835 + TCGA-BC-A112-01 COSM4936614 c.919G>T p.A307S Substitution - Missense 23:118394147-118394147 + Pat_76_B COSM3424375 c.2485C>T p.R829C Substitution - Missense 23:118443660-118443660 + TCGA-GL-7773-01 COSM3992305 c.342T>G p.D114E Substitution - Missense 23:118392787-118392787 + TCGA-GM-A2DI-01 COSM3843307 c.1037G>C p.R346T Substitution - Missense 23:118395328-118395328 + TCGA-12-0821-01 COSM3748179 c.704G>A p.R235H Substitution - Missense 23:118393149-118393149 + Pa36X COSM85239 c.309T>A p.D103E Substitution - Missense 23:118392754-118392754 + TCGA-D7-8579-01 COSM4106078 c.2423A>C p.K808T Substitution - Missense 23:118443598-118443598 + TCGA-A7-A13F-01 COSM456561 c.1460C>T p.A487V Substitution - Missense 23:118406953-118406953 + LUAD-CHTN-Z4716A COSM362711 c.2513-2A>T p.? Unknown 23:118444358-118444358 + 166 COSM97953 c.2085C>G p.I695M Substitution - Missense 23:118441478-118441478 + TCGA-AX-A0J1-01 COSM1113608 c.5C>T p.A2V Substitution - Missense 23:118346508-118346508 + TCGA-BR-4361-01 COSM4106076 c.2283A>G p.S761S Substitution - coding silent 23:118442579-118442579 + HCC2998 COSM2722915 c.267C>A p.L89L Substitution - coding silent 23:118392712-118392712 + Pat_41_B COSM610272 c.2499G>A p.W833* Substitution - Nonsense 23:118443674-118443674 + TCGA-34-5929-01 COSM754490 c.1497G>T p.Q499H Substitution - Missense 23:118406990-118406990 + TCGA-AG-A00Y-01 COSM5072694 c.220G>A p.V74I Substitution - Missense 23:118392665-118392665 + TCGA-EE-A29E-06 COSM3557133 c.2320T>A p.L774M Substitution - Missense 23:118442616-118442616 + TCGA-JX-A3Q0-01 COSM4824780 c.868A>G p.S290G Substitution - Missense 23:118394096-118394096 + LC_S11 COSM1190619 c.1765G>C p.D589H Substitution - Missense 23:118432808-118432808 + TCGA-D7-A4YX-01 COSM4106074 c.2123T>C p.V708A Substitution - Missense 23:118441516-118441516 + ESCC_BICR_041T COSM5441458 c.2436C>A p.I812I Substitution - coding silent 23:118443611-118443611 + C135 COSM2722927 c.411delA p.K139fs*13 Deletion - Frameshift 23:118392856-118392856 + tumor_4120193 COSM3759339 c.1776C>T p.N592N Substitution - coding silent 23:118432819-118432819 + CN-AML-08-T COSM150812 c.951C>T p.T317T Substitution - coding silent 23:118394179-118394179 + TCGA-BS-A0UV-01 COSM1113638 c.1837C>A p.L613I Substitution - Missense 23:118432880-118432880 + TCGA-BS-A0UJ-01 COSM1113626 c.959-1G>A p.? Unknown 23:118395249-118395249 + TCGA-AO-A1KS-01 COSM1490391 c.2445C>G p.T815T Substitution - coding silent 23:118443620-118443620 + LUAD-S00488 COSM404131 c.2257G>T p.G753* Substitution - Nonsense 23:118442334-118442334 + HCC002T COSM5819311 c.2640A>G p.T880T Substitution - coding silent 23:118444487-118444487 + CN-AML-08-T COSM3759339 c.1776C>T p.N592N Substitution - coding silent 23:118432819-118432819 + S02344 COSM5693906 c.1908T>A p.S636S Substitution - coding silent 23:118436758-118436758 + CHC892T COSM4961012 c.1788G>A p.R596R Substitution - coding silent 23:118432831-118432831 + CRC-19T COSM73279 c.613G>A p.A205T Substitution - Missense 23:118393058-118393058 + PD4107a COSM165569 c.2239G>C p.G747R Substitution - Missense 23:118442316-118442316 + SJRHB005 COSM4776238 c.2423A>T p.K808M Substitution - Missense 23:118443598-118443598 + Pat_76_A COSM3424375 c.2485C>T p.R829C Substitution - Missense 23:118443660-118443660 + TCGA-D8-A1JA-01 COSM3843317 c.1973G>C p.R658T Substitution - Missense 23:118436823-118436823 + TCGA-CG-5721-01 COSM4106068 c.719C>G p.T240S Substitution - Missense 23:118393164-118393164 + TCGA-AN-A046-01 COSM3843319 c.2059G>T p.E687* Substitution - Nonsense 23:118441452-118441452 + CSCC-32-T COSM4481842 c.2549C>T p.P850L Substitution - Missense 23:118444396-118444396 + B104-0-Tumor COSM1756352 c.1534-2A>G p.? Unknown 23:118409487-118409487 + RMS230 COSM5881243 c.1417G>T p.D473Y Substitution - Missense 23:118406910-118406910 + 61 COSM5742386 c.1091C>T p.T364I Substitution - Missense 23:118397007-118397007 + 88_T COSM3964615 c.2574G>A p.L858L Substitution - coding silent 23:118444421-118444421 + NB-0121 COSM1288939 c.2499G>C p.W833C Substitution - Missense 23:118443674-118443674 + TCGA-AN-A046-01 COSM3843313 c.1907C>A p.S636Y Substitution - Missense 23:118436757-118436757 + PT22_1 COSM5902426 c.1459G>A p.A487T Substitution - Missense 23:118406952-118406952 + S02289 COSM5686289 c.1983G>T p.R661S Substitution - Missense 23:118441376-118441376 + PT52 COSM5941152 c.749C>T p.P250L Substitution - Missense 23:118393194-118393194 + TCGA-A7-A13E-01 COSM2722921 c.302G>A p.R101K Substitution - Missense 23:118392747-118392747 + H2009 COSM25523 c.207G>C p.E69D Substitution - Missense 23:118392652-118392652 + TCGA-BR-4362-01 COSM4106064 c.74T>G p.V25G Substitution - Missense 23:118346577-118346577 + HCC137 COSM1625432 c.2534C>G p.S845* Substitution - Nonsense 23:118444381-118444381 + TCGA-21-5784-01 COSM754486 c.2384+1G>T p.? Unknown 23:118442681-118442681 + ESO-0292 COSM1241897 c.1345C>T p.R449C Substitution - Missense 23:118404408-118404408 + I2L-P19Tb-Tumor-Biopsy COSM2722927 c.411delA p.K139fs*13 Deletion - Frameshift 23:118392856-118392856 + ESCC_164 COSM5648419 c.251C>T p.S84F Substitution - Missense 23:118392696-118392696 + TCGA-21-5782-01 COSM754492 c.1446A>G p.P482P Substitution - coding silent 23:118406939-118406939 + TCGA-BF-A3DJ-01 COSM4904405 c.792G>A p.L264L Substitution - coding silent 23:118393237-118393237 + OST203PT COSM1732604 c.1064C>A p.A355D Substitution - Missense 23:118396980-118396980 + C086 COSM5541712 c.726C>T p.F242F Substitution - coding silent 23:118393171-118393171 + TCGA-A2-A4S3-01 COSM73279 c.613G>A p.A205T Substitution - Missense 23:118393058-118393058 + ESCC_22 COSM5626396 c.2159A>T p.D720V Substitution - Missense 23:118441552-118441552 + TCGA-EB-A24D-01 COSM3557125 c.271G>T p.D91Y Substitution - Missense 23:118392716-118392716 + GC8_T COSM150812 c.951C>T p.T317T Substitution - coding silent 23:118394179-118394179 + PDA_070 COSM5001645 c.773G>T p.R258I Substitution - Missense 23:118393218-118393218 + TCGA-HW-7495-01 COSM3748179 c.704G>A p.R235H Substitution - Missense 23:118393149-118393149 + RMS2047 COSM4776238 c.2423A>T p.K808M Substitution - Missense 23:118443598-118443598 + TCGA-CG-5723-01 COSM2722959 c.1197C>T p.D399D Substitution - coding silent 23:118398393-118398393 + PD4137a COSM165571 c.2601G>A p.G867G Substitution - coding silent 23:118444448-118444448 + TCGA-FW-A3R5-06 COSM3913247 c.1796C>T p.P599L Substitution - Missense 23:118432839-118432839 + AOCS-109-1-X COSM4137617 c.418T>C p.C140R Substitution - Missense 23:118392863-118392863 + TCGA-AP-A059-01 COSM1113642 c.2249C>A p.P750H Substitution - Missense 23:118442326-118442326 + RK187_C01 COSM3747272 c.1732A>G p.T578A Substitution - Missense 23:118410954-118410954 + U343 COSM5713010 c.315C>T p.S105S Substitution - coding silent 23:118392760-118392760 + T2269 COSM4740958 c.1125G>T p.E375D Substitution - Missense 23:118397041-118397041 + CSCC-31-T COSM4517798 c.424_425CC>TT p.P142F Substitution - Missense 23:118392869-118392870 + TCGA-Q1-A73O-01 COSM4834411 c.835G>C p.E279Q Substitution - Missense 23:118394063-118394063 + 587260 COSM1232586 c.1150C>T p.L384F Substitution - Missense 23:118397066-118397066 + ESCC_136 COSM5643082 c.904C>T p.P302S Substitution - Missense 23:118394132-118394132 + PD4107a COSM165569 c.2239G>C p.G747R Substitution - Missense 23:118442316-118442316 + HCC2998 COSM2722935 c.487A>T p.T163S Substitution - Missense 23:118392932-118392932 + TCGA-AM-5821-01 COSM3759337 c.865G>A p.A289T Substitution - Missense 23:118394093-118394093 + 3N46-VS-3T46 COSM4984804 c.2252_2253ins11 p.K756fs*8 Insertion - Frameshift 23:118442329-118442330 + I2L-P7-Tumor-Organoid COSM5368049 c.410_411insA p.C140fs*5 Insertion - Frameshift 23:118392855-118392856 + T24 COSM150812 c.951C>T p.T317T Substitution - coding silent 23:118394179-118394179 + RK119_C01 COSM3747270 c.1571G>A p.R524Q Substitution - Missense 23:118409526-118409526 + HCC70 COSM2722953 c.888G>A p.T296T Substitution - coding silent 23:118394116-118394116 + GBM_IV-20 COSM1241897 c.1345C>T p.R449C Substitution - Missense 23:118404408-118404408 + STC232 COSM5064293 c.1004T>C p.M335T Substitution - Missense 23:118395295-118395295 + PD9581a COSM5769714 c.2614G>C p.E872Q Substitution - Missense 23:118444461-118444461 + TCGA-CM-6674-01 COSM1465122 c.747T>G p.P249P Substitution - coding silent 23:118393192-118393192 + TCGA-AP-A059-01 COSM1113640 c.2154C>A p.F718L Substitution - Missense 23:118441547-118441547 + 2334199 COSM324296 c.823G>T p.D275Y Substitution - Missense 23:118393268-118393268 + TCGA-BC-A3KG-01 COSM4942593 c.1739T>A p.V580E Substitution - Missense 23:118432782-118432782 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.98510 Xq24

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.D79A c.236A>C X 117526644 CM A C Missense p.E891D c.2673A>C X 117582881 ESCA A C Missense p.S96R c.286A>C X 117526694 LUAD A C Synonymous p.S470S c.1410A>C X 117540866 LUAD A G Missense p.D532G c.1595A>G X 117543513 BRCA A G Missense p.N241S c.722A>G X 117527130 ESCA A G Missense p.N555S c.1664A>G X 117543582 BLCA A G Missense p.S472G c.1414A>G X 117540870 UCEC A G Synonymous p.E406E c.1218A>G X 117532377 CM A G Synonymous p.P482P c.1446A>G X 117540902 LUSC A G Synonymous p.R252R c.756A>G X 117527164 COREAD AT - IntronicDeletion . c.112-925_112-924delAT X 117520366 THCA AT - IntronicDeletion . c.112-925_112-924delAT X 117520366 UCEC - AT IntronicInsertion . c.112-937_112-936insAT X 117520366 UCEC A T Missense p.H646L c.1937A>T X 117570750 CM A T Missense p.Q531L c.1592A>T X 117543510 LUAD C A Missense p.S5R c.15C>A X 117480481 LUAD C G Missense p.A204G c.611C>G X 117527019 LUSC C G Missense p.I695M c.2085C>G X 117575441 HNSC C G Missense p.N868K c.2604C>G X 117578414 BLCA C G Synonymous p.T815T c.2445C>G X 117577583 BRCA C T IntronicSNV . c.187-1424C>T X 117525171 PIA C T Missense p.A234V c.701C>T X 117527109 HNSC C T Missense p.A400V c.1199C>T X 117532358 HNSC C T Missense p.A487V c.1460C>T X 117540916 BRCA C T Missense p.P250S c.748C>T X 117527156 CM C T Missense p.R596W c.1786C>T X 117566792 CM C T Missense p.S614L c.1841C>T X 117566847 BLCA C T Nonsense p.Q328* c.982C>T X 117529236 STAD C T Synonymous p.D818D c.2454C>T X 117577592 CM C T Synonymous p.F242F c.726C>T X 117527134 CM C T Synonymous p.S50S c.150C>T X 117521341 BRCA G A Missense p.A205T c.613G>A X 117527021 OV G A Missense p.A901T c.2701G>A X 117582909 HNSC G A Missense p.D305N c.913G>A X 117528104 CM G A Missense p.D350N c.1048G>A X 117529302 CM G A Missense p.E320K c.958G>A X 117529212 CM G A Missense p.E869K c.2605G>A X 117578415 BRCA G A Missense p.E869K c.2605G>A X 117578415 HNSC G A Missense p.R235H c.704G>A X 117527112 GBM G A Missense p.R235H c.704G>A X 117527112 LGG G A Missense p.S793N c.2378G>A X 117576637 BRCA G A Missense p.V232I c.694G>A X 117527102 HNSC G A Nonsense p.W833* c.2499G>A X 117577637 LUAD G A Synonymous p.G867G c.2601G>A X 117578411 BRCA G A Synonymous p.L264L c.792G>A X 117527200 CM G A Synonymous p.T155T c.465G>A X 117526873 BRCA G C Missense p.D152H c.454G>C X 117526862 HNSC G C Missense p.E70D c.210G>C X 117526618 HNSC G C Missense p.G747R c.2239G>C X 117576279 BRCA G C Missense p.L370F c.1110G>C X 117530989 HNSC G C Missense p.R598P c.1793G>C X 117566799 LUSC G C Missense p.R638T c.1913G>C X 117570726 LUAD G C Missense p.W833C c.2499G>C X 117577637 NB G C SpliceDonorSNV . c.1274+1G>C X 117532434 LUAD G C SpliceDonorSNV . c.1672+1G>C X 117543591 STAD G T IntronicSNV . c.112-919G>T X 117520384 LUAD G T Missense p.D275Y c.823G>T X 117527231 SCLC G T Missense p.D91Y c.271G>T X 117526679 CM G T Missense p.Q499H c.1497G>T X 117540953 LUSC G T Nonsense p.G558* c.1672G>T X 117543590 SCLC G T SpliceAcceptorSNV . c.2269-1G>T X 117576527 STAD G T SpliceDonorSNV . c.2384+1G>T X 117576644 LUSC T A Missense p.D103E c.309T>A X 117526717 PAAD T C Missense p.V502A c.1505T>C X 117540961 UCEC T C Synonymous p.F130F c.390T>C X 117526798 UCEC T C Synonymous p.F620F c.1860T>C X 117570673 LUAD T G IntronicSNV . c.112-896T>G X 117520407 CLL T G Synonymous p.L169L c.507T>G X 117526915 CM