Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 23 53222481 53222481 + Silent SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chrX:53222481G>T c.4351C>A c.(4351-4353)Cgg>Agg p.R1451R BLCA 23 53223466 53223466 + Missense_Mutation SNP G G C TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chrX:53223466G>C c.3893C>G c.(3892-3894)tCt>tGt p.S1298C BLCA 23 53228048 53228048 + Missense_Mutation SNP G G T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 g.chrX:53228048G>T c.2266C>A c.(2266-2268)Ctt>Att p.L756I BLCA 23 53230843 53230843 + Missense_Mutation SNP C C G TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chrX:53230843C>G c.1950G>C c.(1948-1950)aaG>aaC p.K650N BLCA 23 53240688 53240688 + Silent SNP G G C TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chrX:53240688G>C c.1392C>G c.(1390-1392)ccC>ccG p.P464P BLCA 23 53247478 53247478 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 g.chrX:53247478C>T c.331G>A c.(331-333)Gac>Aac p.D111N BRCA 23 53223476 53223476 + Missense_Mutation SNP C C G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chrX:53223476C>G c.3883G>C c.(3883-3885)Gct>Cct p.A1295P BRCA 23 53223478 53223478 + Missense_Mutation SNP T T A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chrX:53223478T>A c.3881A>T c.(3880-3882)cAg>cTg p.Q1294L BRCA 23 53223508 53223509 + Frame_Shift_Del DEL CT CT - TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 g.chrX:53223508_53223509delCT c.3850_3851delAG c.(3850-3852)aggfs p.R1284fs BRCA 23 53223539 53223539 + Missense_Mutation SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 g.chrX:53223539C>T c.3820G>A c.(3820-3822)Gag>Aag p.E1274K BRCA 23 53224232 53224232 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chrX:53224232C>G c.3319G>C c.(3319-3321)Gat>Cat p.D1107H BRCA 23 53224485 53224486 + In_Frame_Ins INS - - GGT TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 g.chrX:53224485_53224486insGGT c.3227_3228insACC c.(3226-3228)ctg>ctACCg p.1076_1077insP BRCA 23 53225218 53225218 + Silent SNP G G A TCGA-A7-A56D-01A-11D-A27P-09 TCGA-A7-A56D-10A-01D-A27P-09 g.chrX:53225218G>A c.3000C>T c.(2998-3000)gcC>gcT p.A1000A BRCA 23 53225894 53225894 + Silent SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 g.chrX:53225894C>T c.2955G>A c.(2953-2955)gaG>gaA p.E985E BRCA 23 53225908 53225908 + Missense_Mutation SNP C C T TCGA-A2-A0CX-01A-21W-A019-09 TCGA-A2-A0CX-10A-01W-A021-09 g.chrX:53225908C>T c.2941G>A c.(2941-2943)Gaa>Aaa p.E981K BRCA 23 53230805 53230805 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chrX:53230805G>A c.1988C>T c.(1987-1989)gCg>gTg p.A663V BRCA 23 53240703 53240703 + Missense_Mutation SNP T T G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 g.chrX:53240703T>G c.1377A>C c.(1375-1377)aaA>aaC p.K459N BRCA 23 53247017 53247017 + Silent SNP A A C TCGA-BH-A0BM-01A-11W-A071-09 TCGA-BH-A0BM-10A-01W-A071-09 g.chrX:53247017A>C c.483T>G c.(481-483)gtT>gtG p.V161V BRCA 23 53247464 53247464 + Silent SNP G G A TCGA-E9-A1RH-01A-21D-A167-09 TCGA-E9-A1RH-10A-01D-A167-09 g.chrX:53247464G>A c.345C>T c.(343-345)ctC>ctT p.L115L CESC 23 53222364 53222364 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chrX:53222364C>T c.4468G>A c.(4468-4470)Gag>Aag p.E1490K CESC 23 53223512 53223512 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chrX:53223512C>T c.3847G>A c.(3847-3849)Gag>Aag p.E1283K CESC 23 53228252 53228252 + Nonsense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chrX:53228252G>C c.2150C>G c.(2149-2151)tCa>tGa p.S717* CESC 23 53228335 53228335 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 g.chrX:53228335G>A c.2067C>T c.(2065-2067)atC>atT p.I689I CESC 23 53253976 53253976 + Silent SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 g.chrX:53253976C>G c.96G>C c.(94-96)gcG>gcC p.A32A CESC 23 53253979 53253979 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chrX:53253979G>A c.93C>T c.(91-93)atC>atT p.I31I COAD 23 53222253 53222253 + Missense_Mutation SNP C C T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chrX:53222253C>T c.4579G>A c.(4579-4581)Gaa>Aaa p.E1527K COAD 23 53222676 53222676 + Nonsense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chrX:53222676C>T c.4260G>A c.(4258-4260)tgG>tgA p.W1420* COAD 23 53223602 53223602 + Missense_Mutation SNP G G T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chrX:53223602G>T c.3757C>A c.(3757-3759)Ccg>Acg p.P1253T COAD 23 53223693 53223693 + Silent SNP A A G TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chrX:53223693A>G c.3666T>C c.(3664-3666)tcT>tcC p.S1222S COAD 23 53223693 53223693 + Silent SNP A A G TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chrX:53223693A>G c.3666T>C c.(3664-3666)tcT>tcC p.S1222S COAD 23 53223695 53223695 + Missense_Mutation SNP A A G TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chrX:53223695A>G c.3664T>C c.(3664-3666)Tct>Cct p.S1222P COAD 23 53223695 53223695 + Missense_Mutation SNP A A G TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chrX:53223695A>G c.3664T>C c.(3664-3666)Tct>Cct p.S1222P COAD 23 53223796 53223796 + Missense_Mutation SNP C C G TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chrX:53223796C>G c.3563G>C c.(3562-3564)tGt>tCt p.C1188S COAD 23 53223862 53223862 + Missense_Mutation SNP C C T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chrX:53223862C>T c.3497G>A c.(3496-3498)cGc>cAc p.R1166H COAD 23 53224536 53224536 + Silent SNP C C A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:53224536C>A c.3177G>T c.(3175-3177)cgG>cgT p.R1059R COAD 23 53225900 53225900 + Nonsense_Mutation SNP C C T TCGA-CM-5863-01A-21D-1835-10 TCGA-CM-5863-10A-01D-1835-10 g.chrX:53225900C>T c.2949G>A c.(2947-2949)tgG>tgA p.W983* COAD 23 53226051 53226051 + Missense_Mutation SNP T T G TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chrX:53226051T>G c.2798A>C c.(2797-2799)gAg>gCg p.E933A COAD 23 53226072 53226072 + Missense_Mutation SNP T T C TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chrX:53226072T>C c.2777A>G c.(2776-2778)gAa>gGa p.E926G COAD 23 53226186 53226187 + Frame_Shift_Ins INS - - GG TCGA-AA-3979-01A-01W-0995-10 TCGA-AA-3979-10A-01W-0999-10 g.chrX:53226186_53226187insGG c.2662_2663insCC c.(2662-2664)cgtfs p.R888fs COAD 23 53230752 53230752 + Nonsense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chrX:53230752G>A c.2041C>T c.(2041-2043)Cga>Tga p.R681* COAD 23 53230786 53230788 + In_Frame_Del DEL CTC CTC - TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chrX:53230786_53230788delCTC c.2005_2007delGAG c.(2005-2007)gagdel p.E669del COAD 23 53230866 53230866 + Missense_Mutation SNP A A G TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chrX:53230866A>G c.1927T>C c.(1927-1929)Tcc>Ccc p.S643P COAD 23 53230866 53230866 + Missense_Mutation SNP A A G TCGA-DM-A1D0-01A-11D-A152-10 TCGA-DM-A1D0-10A-01D-A152-10 g.chrX:53230866A>G c.1927T>C c.(1927-1929)Tcc>Ccc p.S643P COAD 23 53239601 53239601 + Missense_Mutation SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chrX:53239601C>T c.1741G>A c.(1741-1743)Gtg>Atg p.V581M COAD 23 53239623 53239623 + Silent SNP G G T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chrX:53239623G>T c.1719C>A c.(1717-1719)ccC>ccA p.P573P COAD 23 53239681 53239681 + Missense_Mutation SNP G G T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chrX:53239681G>T c.1661C>A c.(1660-1662)cCt>cAt p.P554H COAD 23 53239742 53239742 + Missense_Mutation SNP A A G TCGA-D5-7000-01A-11D-1924-10 TCGA-D5-7000-10A-01D-1924-10 g.chrX:53239742A>G c.1600T>C c.(1600-1602)Tgg>Cgg p.W534R COAD 23 53240685 53240685 + Missense_Mutation SNP T T A TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chrX:53240685T>A c.1395A>T c.(1393-1395)gaA>gaT p.E465D COAD 23 53245277 53245277 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chrX:53245277C>A c.760G>T c.(760-762)Gac>Tac p.D254Y COAD 23 53245374 53245374 + Silent SNP T T C TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chrX:53245374T>C c.663A>G c.(661-663)gaA>gaG p.E221E COAD 23 53245374 53245374 + Silent SNP T T C TCGA-F4-6459-01A-11D-1771-10 TCGA-F4-6459-10A-01D-1771-10 g.chrX:53245374T>C c.663A>G c.(661-663)gaA>gaG p.E221E COAD 23 53246446 53246446 + Missense_Mutation SNP C C T TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chrX:53246446C>T c.536G>A c.(535-537)cGt>cAt p.R179H COAD 23 53246447 53246447 + Missense_Mutation SNP G G A TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chrX:53246447G>A c.535C>T c.(535-537)Cgt>Tgt p.R179C COAD 23 53246447 53246447 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chrX:53246447G>A c.535C>T c.(535-537)Cgt>Tgt p.R179C COADREAD 23 53222253 53222253 + Missense_Mutation SNP C C T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chrX:53222253C>T c.4579G>A c.(4579-4581)Gaa>Aaa p.E1527K COADREAD 23 53222676 53222676 + Nonsense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chrX:53222676C>T c.4260G>A c.(4258-4260)tgG>tgA p.W1420* COADREAD 23 53223602 53223602 + Missense_Mutation SNP G G T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chrX:53223602G>T c.3757C>A c.(3757-3759)Ccg>Acg p.P1253T COADREAD 23 53223693 53223693 + Silent SNP A A G TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chrX:53223693A>G c.3666T>C c.(3664-3666)tcT>tcC p.S1222S COADREAD 23 53223693 53223693 + Silent SNP A A G TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chrX:53223693A>G c.3666T>C c.(3664-3666)tcT>tcC p.S1222S COADREAD 23 53223695 53223695 + Missense_Mutation SNP A A G TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chrX:53223695A>G c.3664T>C c.(3664-3666)Tct>Cct p.S1222P COADREAD 23 53223695 53223695 + Missense_Mutation SNP A A G TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chrX:53223695A>G c.3664T>C c.(3664-3666)Tct>Cct p.S1222P COADREAD 23 53223695 53223695 + Missense_Mutation SNP A A G TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chrX:53223695A>G c.3664T>C c.(3664-3666)Tct>Cct p.S1222P COADREAD 23 53223796 53223796 + Missense_Mutation SNP C C G TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chrX:53223796C>G c.3563G>C c.(3562-3564)tGt>tCt p.C1188S COADREAD 23 53223862 53223862 + Missense_Mutation SNP C C T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chrX:53223862C>T c.3497G>A c.(3496-3498)cGc>cAc p.R1166H COADREAD 23 53224536 53224536 + Silent SNP C C A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:53224536C>A c.3177G>T c.(3175-3177)cgG>cgT p.R1059R COADREAD 23 53225900 53225900 + Nonsense_Mutation SNP C C T TCGA-CM-5863-01A-21D-1835-10 TCGA-CM-5863-10A-01D-1835-10 g.chrX:53225900C>T c.2949G>A c.(2947-2949)tgG>tgA p.W983* COADREAD 23 53226051 53226051 + Missense_Mutation SNP T T G TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chrX:53226051T>G c.2798A>C c.(2797-2799)gAg>gCg p.E933A COADREAD 23 53226072 53226072 + Missense_Mutation SNP T T C TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chrX:53226072T>C c.2777A>G c.(2776-2778)gAa>gGa p.E926G COADREAD 23 53226186 53226187 + Frame_Shift_Ins INS - - GG TCGA-AA-3979-01A-01W-0995-10 TCGA-AA-3979-10A-01W-0999-10 g.chrX:53226186_53226187insGG c.2662_2663insCC c.(2662-2664)cgtfs p.R888fs COADREAD 23 53230752 53230752 + Nonsense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chrX:53230752G>A c.2041C>T c.(2041-2043)Cga>Tga p.R681* COADREAD 23 53230786 53230788 + In_Frame_Del DEL CTC CTC - TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chrX:53230786_53230788delCTC c.2005_2007delGAG c.(2005-2007)gagdel p.E669del COADREAD 23 53230860 53230860 + Nonsense_Mutation SNP C C A TCGA-CI-6622-01A-11D-1826-10 TCGA-CI-6622-10A-01D-1826-10 g.chrX:53230860C>A c.1933G>T c.(1933-1935)Gag>Tag p.E645* COADREAD 23 53230866 53230866 + Missense_Mutation SNP A A G TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chrX:53230866A>G c.1927T>C c.(1927-1929)Tcc>Ccc p.S643P COADREAD 23 53230866 53230866 + Missense_Mutation SNP A A G TCGA-DM-A1D0-01A-11D-A152-10 TCGA-DM-A1D0-10A-01D-A152-10 g.chrX:53230866A>G c.1927T>C c.(1927-1929)Tcc>Ccc p.S643P COADREAD 23 53239601 53239601 + Missense_Mutation SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chrX:53239601C>T c.1741G>A c.(1741-1743)Gtg>Atg p.V581M COADREAD 23 53239623 53239623 + Silent SNP G G T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chrX:53239623G>T c.1719C>A c.(1717-1719)ccC>ccA p.P573P COADREAD 23 53239681 53239681 + Missense_Mutation SNP G G T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chrX:53239681G>T c.1661C>A c.(1660-1662)cCt>cAt p.P554H COADREAD 23 53239742 53239742 + Missense_Mutation SNP A A G TCGA-D5-7000-01A-11D-1924-10 TCGA-D5-7000-10A-01D-1924-10 g.chrX:53239742A>G c.1600T>C c.(1600-1602)Tgg>Cgg p.W534R COADREAD 23 53240685 53240685 + Missense_Mutation SNP T T A TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chrX:53240685T>A c.1395A>T c.(1393-1395)gaA>gaT p.E465D COADREAD 23 53245277 53245277 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chrX:53245277C>A c.760G>T c.(760-762)Gac>Tac p.D254Y COADREAD 23 53245374 53245374 + Silent SNP T T C TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chrX:53245374T>C c.663A>G c.(661-663)gaA>gaG p.E221E COADREAD 23 53245374 53245374 + Silent SNP T T C TCGA-F4-6459-01A-11D-1771-10 TCGA-F4-6459-10A-01D-1771-10 g.chrX:53245374T>C c.663A>G c.(661-663)gaA>gaG p.E221E COADREAD 23 53246446 53246446 + Missense_Mutation SNP C C T TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chrX:53246446C>T c.536G>A c.(535-537)cGt>cAt p.R179H COADREAD 23 53246447 53246447 + Missense_Mutation SNP G G A TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chrX:53246447G>A c.535C>T c.(535-537)Cgt>Tgt p.R179C COADREAD 23 53246447 53246447 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chrX:53246447G>A c.535C>T c.(535-537)Cgt>Tgt p.R179C DLBC 23 53223819 53223819 + Silent SNP C C T TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chrX:53223819C>T c.3540G>A c.(3538-3540)acG>acA p.T1180T DLBC 23 53230909 53230909 + Silent SNP C C T TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chrX:53230909C>T c.1884G>A c.(1882-1884)caG>caA p.Q628Q ESCA 23 53223826 53223826 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 g.chrX:53223826G>A c.3533C>T c.(3532-3534)tCg>tTg p.S1178L ESCA 23 53246370 53246370 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 g.chrX:53246370G>A c.612C>T c.(610-612)tcC>tcT p.S204S GBM 23 53223866 53223866 + Missense_Mutation SNP G G A TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 g.chrX:53223866G>A c.3493C>T c.(3493-3495)Cgt>Tgt p.R1165C GBM 23 53230914 53230914 + Missense_Mutation SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 g.chrX:53230914G>A c.1879C>T c.(1879-1881)Cgc>Tgc p.R627C GBMLGG 23 53222210 53222210 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:53222210G>A c.4622C>T c.(4621-4623)tCc>tTc p.S1541F GBMLGG 23 53223866 53223866 + Missense_Mutation SNP G G A TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 g.chrX:53223866G>A c.3493C>T c.(3493-3495)Cgt>Tgt p.R1165C GBMLGG 23 53226063 53226063 + Missense_Mutation SNP C C T TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 g.chrX:53226063C>T c.2786G>A c.(2785-2787)cGa>cAa p.R929Q GBMLGG 23 53230839 53230839 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:53230839C>T c.1954G>A c.(1954-1956)Gct>Act p.A652T GBMLGG 23 53230914 53230914 + Missense_Mutation SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 g.chrX:53230914G>A c.1879C>T c.(1879-1881)Cgc>Tgc p.R627C GBMLGG 23 53239948 53239948 + Missense_Mutation SNP T T A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:53239948T>A c.1493A>T c.(1492-1494)aAg>aTg p.K498M GBMLGG 23 53240002 53240002 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:53240002G>A c.1439C>T c.(1438-1440)cCg>cTg p.P480L GBMLGG 23 53241017 53241017 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:53241017G>A c.1194C>T c.(1192-1194)ggC>ggT p.G398G HNSC 23 53223011 53223011 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 g.chrX:53223011C>T c.4061G>A c.(4060-4062)gGa>gAa p.G1354E HNSC 23 53224437 53224437 + Silent SNP T T C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 g.chrX:53224437T>C c.3276A>G c.(3274-3276)aaA>aaG p.K1092K HNSC 23 53225148 53225148 + Nonsense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chrX:53225148C>A c.3070G>T c.(3070-3072)Gag>Tag p.E1024* HNSC 23 53227702 53227703 + Frame_Shift_Del DEL GC GC - TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 g.chrX:53227702_53227703delGC c.2485_2486delGC c.(2485-2487)gctfs p.A829fs HNSC 23 53230783 53230783 + Missense_Mutation SNP C C A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 g.chrX:53230783C>A c.2010G>T c.(2008-2010)atG>atT p.M670I HNSC 23 53239931 53239931 + Missense_Mutation SNP C C A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 g.chrX:53239931C>A c.1510G>T c.(1510-1512)Gtg>Ttg p.V504L HNSC 23 53240037 53240038 + Frame_Shift_Ins INS - - A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 g.chrX:53240037_53240038insA c.1403_1404insT c.(1402-1404)gagfs p.E468fs HNSC 23 53241082 53241083 + Frame_Shift_Ins INS - - A TCGA-CV-A6JD-01A-11D-A31L-08 TCGA-CV-A6JD-10A-01D-A31J-08 g.chrX:53241082_53241083insA c.1128_1129insT c.(1126-1131)tgtaagfs p.K377fs HNSC 23 53243984 53243984 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 g.chrX:53243984C>T c.1009G>A c.(1009-1011)Gac>Aac p.D337N HNSC 23 53246350 53246350 + Missense_Mutation SNP C C G TCGA-BA-A6DI-01A-11D-A30E-08 TCGA-BA-A6DI-10A-01D-A30H-08 g.chrX:53246350C>G c.632G>C c.(631-633)cGg>cCg p.R211P KICH 23 53222786 53222786 + Silent SNP A A G TCGA-KL-8329-01A-11D-2310-10 TCGA-KL-8329-11A-01D-2310-10 g.chrX:53222786A>G c.4150T>C c.(4150-4152)Ttg>Ctg p.L1384L KICH 23 53239928 53239928 + Missense_Mutation SNP C C T TCGA-KL-8345-01A-11D-2310-10 TCGA-KL-8345-11A-01D-2310-10 g.chrX:53239928C>T c.1513G>A c.(1513-1515)Ggc>Agc p.G505S KIPAN 23 53222170 53222170 + Missense_Mutation SNP C C A TCGA-A3-3331-01A-01W-0886-08 TCGA-A3-3331-11A-01W-0886-08 g.chrX:53222170C>A c.4662G>T c.(4660-4662)caG>caT p.Q1554H KIPAN 23 53222460 53222460 + Missense_Mutation SNP G G A TCGA-B0-4710-01A-01W-1528-10 TCGA-B0-4710-11A-02W-1528-10 g.chrX:53222460G>A c.4372C>T c.(4372-4374)Cgg>Tgg p.R1458W KIPAN 23 53222653 53222656 + Frame_Shift_Del DEL GGCT GGCT - TCGA-B0-4837-01A-01D-1373-10 TCGA-B0-4837-11A-01D-1373-10 g.chrX:53222653_53222656delGGCT c.4280_4283delAGCC c.(4279-4284)cagcccfs p.QP1427fs KIPAN 23 53222684 53222694 + Frame_Shift_Del DEL TGTGGTTCTCA TGTGGTTCTCA - TCGA-CW-5581-01A-02D-1534-10 TCGA-CW-5581-11A-01D-1535-10 g.chrX:53222684_53222694delTGTGGTTCTCA c.4242_4252delTGAGAACCACA c.(4240-4254)gatgagaaccacagcfs p.DENHS1414fs KIPAN 23 53222786 53222786 + Silent SNP A A G TCGA-KL-8329-01A-11D-2310-10 TCGA-KL-8329-11A-01D-2310-10 g.chrX:53222786A>G c.4150T>C c.(4150-4152)Ttg>Ctg p.L1384L KIPAN 23 53223343 53223343 + Missense_Mutation SNP C C T TCGA-GL-A9DC-01A-11D-A36X-10 TCGA-GL-A9DC-10A-01D-A370-10 g.chrX:53223343C>T c.4016G>A c.(4015-4017)gGc>gAc p.G1339D KIPAN 23 53223905 53223905 + Missense_Mutation SNP C C T TCGA-AK-3430-01A-01D-1251-10 TCGA-AK-3430-10A-01D-1251-10 g.chrX:53223905C>T c.3454G>A c.(3454-3456)Gag>Aag p.E1152K KIPAN 23 53224160 53224160 + Frame_Shift_Del DEL C C - TCGA-BP-4351-01A-01D-1366-10 TCGA-BP-4351-11A-01D-1366-10 g.chrX:53224160delC c.3391delG c.(3391-3393)gagfs p.E1131fs KIPAN 23 53224222 53224222 + Nonsense_Mutation SNP G G C TCGA-B0-5698-01A-11D-1669-08 TCGA-B0-5698-10A-01D-1669-08 g.chrX:53224222G>C c.3329C>G c.(3328-3330)tCa>tGa p.S1110* KIPAN 23 53225887 53225887 + Frame_Shift_Del DEL G G - TCGA-BP-5189-01A-02D-1429-08 TCGA-BP-5189-11A-01D-1429-08 g.chrX:53225887delG c.2962delC c.(2962-2964)cacfs p.H988fs KIPAN 23 53227751 53227751 + Nonsense_Mutation SNP G G A TCGA-BP-5000-01A-01D-1462-08 TCGA-BP-5000-11A-01D-1462-08 g.chrX:53227751G>A c.2437C>T c.(2437-2439)Cag>Tag p.Q813* KIPAN 23 53227796 53227796 + Nonsense_Mutation SNP C C A TCGA-B0-5094-01A-01D-1421-08 TCGA-B0-5094-11A-01D-1421-08 g.chrX:53227796C>A c.2392G>T c.(2392-2394)Gag>Tag p.E798* KIPAN 23 53228204 53228204 + Missense_Mutation SNP T T G TCGA-BP-5190-01A-01D-1429-08 TCGA-BP-5190-11A-01D-1429-08 g.chrX:53228204T>G c.2198A>C c.(2197-2199)cAc>cCc p.H733P KIPAN 23 53228213 53228213 + Missense_Mutation SNP C C A TCGA-BP-5169-01A-01D-1429-08 TCGA-BP-5169-11A-01D-1429-08 g.chrX:53228213C>A c.2189G>T c.(2188-2190)tGc>tTc p.C730F KIPAN 23 53228214 53228214 + Missense_Mutation SNP A A G TCGA-B0-4844-01A-01D-1361-10 TCGA-B0-4844-11A-01D-1361-10 g.chrX:53228214A>G c.2188T>C c.(2188-2190)Tgc>Cgc p.C730R KIPAN 23 53230752 53230752 + Nonsense_Mutation SNP G G A TCGA-B0-4718-01A-01D-1361-10 TCGA-B0-4718-11A-01D-1361-10 g.chrX:53230752G>A c.2041C>T c.(2041-2043)Cga>Tga p.R681* KIPAN 23 53230876 53230877 + Frame_Shift_Ins INS - - T TCGA-B0-5108-01A-01D-1421-08 TCGA-B0-5108-11A-01D-1421-08 g.chrX:53230876_53230877insT c.1916_1917insA c.(1915-1917)tacfs p.Y639fs KIPAN 23 53231127 53231127 + Missense_Mutation SNP T T A TCGA-B0-5077-01A-01D-1462-08 TCGA-B0-5077-11A-01D-1462-08 g.chrX:53231127T>A c.1775A>T c.(1774-1776)gAg>gTg p.E592V KIPAN 23 53239736 53239736 + Missense_Mutation SNP C C A TCGA-B0-4816-01A-01D-1501-10 TCGA-B0-4816-11A-02D-1501-10 g.chrX:53239736C>A c.1606G>T c.(1606-1608)Ggg>Tgg p.G536W KIPAN 23 53239905 53239905 + Missense_Mutation SNP G G C TCGA-B0-5106-01A-01D-1421-08 TCGA-B0-5106-11A-01D-1421-08 g.chrX:53239905G>C c.1536C>G c.(1534-1536)tgC>tgG p.C512W KIPAN 23 53239928 53239928 + Missense_Mutation SNP C C T TCGA-KL-8345-01A-11D-2310-10 TCGA-KL-8345-11A-01D-2310-10 g.chrX:53239928C>T c.1513G>A c.(1513-1515)Ggc>Agc p.G505S KIPAN 23 53240028 53240031 + Frame_Shift_Del DEL GGTA GGTA - TCGA-B0-4694-01A-01D-1361-10 TCGA-B0-4694-11A-01D-1361-10 g.chrX:53240028_53240031delGGTA c.1410_1413delTACC c.(1408-1413)gctaccfs p.AT470fs KIPAN 23 53240705 53240705 + Nonsense_Mutation SNP T T A TCGA-BP-4159-01A-02D-1366-10 TCGA-BP-4159-11A-01D-1366-10 g.chrX:53240705T>A c.1375A>T c.(1375-1377)Aaa>Taa p.K459* KIPAN 23 53244975 53244975 + Splice_Site SNP A A G TCGA-AK-3458-01A-01D-1501-10 TCGA-AK-3458-10A-01D-1501-10 g.chrX:53244975A>G c.e7+1 KIPAN 23 53245090 53245090 + Nonsense_Mutation SNP C C A TCGA-B0-4828-01A-01D-1361-10 TCGA-B0-4828-11A-01D-1361-10 g.chrX:53245090C>A c.850G>T c.(850-852)Gag>Tag p.E284* KIPAN 23 53246339 53246339 + Nonsense_Mutation SNP T T A TCGA-CZ-5467-01A-01D-1501-10 TCGA-CZ-5467-11A-01D-1501-10 g.chrX:53246339T>A c.643A>T c.(643-645)Aga>Tga p.R215* KIPAN 23 53247129 53247135 + Frame_Shift_Del DEL CCACCTT CCACCTT - TCGA-B2-5641-01A-01D-1534-10 TCGA-B2-5641-10A-01D-1535-10 g.chrX:53247129_53247135delCCACCTT c.365_371delAAGGTGG c.(364-372)gaaggtggtfs p.EGG122fs KIPAN 23 53247143 53247143 + Silent SNP C C G TCGA-B2-5641-01A-01D-1534-10 TCGA-B2-5641-10A-01D-1535-10 g.chrX:53247143C>G c.357G>C c.(355-357)gtG>gtC p.V119V KIPAN 23 53250081 53250082 + Frame_Shift_Del DEL AA AA - TCGA-CJ-4871-01A-01D-1373-10 TCGA-CJ-4871-11A-01D-1373-10 g.chrX:53250081_53250082delAA c.167_168delTT c.(166-168)tttfs p.F56fs KIPAN 23 53253992 53253992 + Frame_Shift_Del DEL G G - TCGA-BP-5202-01A-02D-1429-08 TCGA-BP-5202-11A-01D-1429-08 g.chrX:53253992delG c.80delC c.(79-81)cctfs p.P27fs KIRC 23 53222170 53222170 + Missense_Mutation SNP C C A TCGA-A3-3331-01A-01W-0886-08 TCGA-A3-3331-11A-01W-0886-08 g.chrX:53222170C>A c.4662G>T c.(4660-4662)caG>caT p.Q1554H KIRC 23 53222460 53222460 + Missense_Mutation SNP G G A TCGA-B0-4710-01A-01W-1528-10 TCGA-B0-4710-11A-02W-1528-10 g.chrX:53222460G>A c.4372C>T c.(4372-4374)Cgg>Tgg p.R1458W KIRC 23 53222653 53222656 + Frame_Shift_Del DEL GGCT GGCT - TCGA-B0-4837-01A-01D-1373-10 TCGA-B0-4837-11A-01D-1373-10 g.chrX:53222653_53222656delGGCT c.4280_4283delAGCC c.(4279-4284)cagcccfs p.QP1427fs KIRC 23 53222684 53222694 + Frame_Shift_Del DEL TGTGGTTCTCA TGTGGTTCTCA - TCGA-CW-5581-01A-02D-1534-10 TCGA-CW-5581-11A-01D-1535-10 g.chrX:53222684_53222694delTGTGGTTCTCA c.4242_4252delTGAGAACCACA c.(4240-4254)gatgagaaccacagcfs p.DENHS1414fs KIRC 23 53223905 53223905 + Missense_Mutation SNP C C T TCGA-AK-3430-01A-01D-1251-10 TCGA-AK-3430-10A-01D-1251-10 g.chrX:53223905C>T c.3454G>A c.(3454-3456)Gag>Aag p.E1152K KIRC 23 53224160 53224160 + Frame_Shift_Del DEL C C - TCGA-BP-4351-01A-01D-1366-10 TCGA-BP-4351-11A-01D-1366-10 g.chrX:53224160delC c.3391delG c.(3391-3393)gagfs p.E1131fs KIRC 23 53224222 53224222 + Nonsense_Mutation SNP G G C TCGA-B0-5698-01A-11D-1669-08 TCGA-B0-5698-10A-01D-1669-08 g.chrX:53224222G>C c.3329C>G c.(3328-3330)tCa>tGa p.S1110* KIRC 23 53225887 53225887 + Frame_Shift_Del DEL G G - TCGA-BP-5189-01A-02D-1429-08 TCGA-BP-5189-11A-01D-1429-08 g.chrX:53225887delG c.2962delC c.(2962-2964)cacfs p.H988fs KIRC 23 53227751 53227751 + Nonsense_Mutation SNP G G A TCGA-BP-5000-01A-01D-1462-08 TCGA-BP-5000-11A-01D-1462-08 g.chrX:53227751G>A c.2437C>T c.(2437-2439)Cag>Tag p.Q813* KIRC 23 53227796 53227796 + Nonsense_Mutation SNP C C A TCGA-B0-5094-01A-01D-1421-08 TCGA-B0-5094-11A-01D-1421-08 g.chrX:53227796C>A c.2392G>T c.(2392-2394)Gag>Tag p.E798* KIRC 23 53228204 53228204 + Missense_Mutation SNP T T G TCGA-BP-5190-01A-01D-1429-08 TCGA-BP-5190-11A-01D-1429-08 g.chrX:53228204T>G c.2198A>C c.(2197-2199)cAc>cCc p.H733P KIRC 23 53228213 53228213 + Missense_Mutation SNP C C A TCGA-BP-5169-01A-01D-1429-08 TCGA-BP-5169-11A-01D-1429-08 g.chrX:53228213C>A c.2189G>T c.(2188-2190)tGc>tTc p.C730F KIRC 23 53228214 53228214 + Missense_Mutation SNP A A G TCGA-B0-4844-01A-01D-1361-10 TCGA-B0-4844-11A-01D-1361-10 g.chrX:53228214A>G c.2188T>C c.(2188-2190)Tgc>Cgc p.C730R KIRC 23 53230752 53230752 + Nonsense_Mutation SNP G G A TCGA-B0-4718-01A-01D-1361-10 TCGA-B0-4718-11A-01D-1361-10 g.chrX:53230752G>A c.2041C>T c.(2041-2043)Cga>Tga p.R681* KIRC 23 53230876 53230877 + Frame_Shift_Ins INS - - T TCGA-B0-5108-01A-01D-1421-08 TCGA-B0-5108-11A-01D-1421-08 g.chrX:53230876_53230877insT c.1916_1917insA c.(1915-1917)tacfs p.Y639fs KIRC 23 53231127 53231127 + Missense_Mutation SNP T T A TCGA-B0-5077-01A-01D-1462-08 TCGA-B0-5077-11A-01D-1462-08 g.chrX:53231127T>A c.1775A>T c.(1774-1776)gAg>gTg p.E592V KIRC 23 53239736 53239736 + Missense_Mutation SNP C C A TCGA-B0-4816-01A-01D-1501-10 TCGA-B0-4816-11A-02D-1501-10 g.chrX:53239736C>A c.1606G>T c.(1606-1608)Ggg>Tgg p.G536W KIRC 23 53239905 53239905 + Missense_Mutation SNP G G C TCGA-B0-5106-01A-01D-1421-08 TCGA-B0-5106-11A-01D-1421-08 g.chrX:53239905G>C c.1536C>G c.(1534-1536)tgC>tgG p.C512W KIRC 23 53240028 53240031 + Frame_Shift_Del DEL GGTA GGTA - TCGA-B0-4694-01A-01D-1361-10 TCGA-B0-4694-11A-01D-1361-10 g.chrX:53240028_53240031delGGTA c.1410_1413delTACC c.(1408-1413)gctaccfs p.AT470fs KIRC 23 53240705 53240705 + Nonsense_Mutation SNP T T A TCGA-BP-4159-01A-02D-1366-10 TCGA-BP-4159-11A-01D-1366-10 g.chrX:53240705T>A c.1375A>T c.(1375-1377)Aaa>Taa p.K459* KIRC 23 53244975 53244975 + Splice_Site SNP A A G TCGA-AK-3458-01A-01D-1501-10 TCGA-AK-3458-10A-01D-1501-10 g.chrX:53244975A>G c.e7+1 KIRC 23 53245090 53245090 + Nonsense_Mutation SNP C C A TCGA-B0-4828-01A-01D-1361-10 TCGA-B0-4828-11A-01D-1361-10 g.chrX:53245090C>A c.850G>T c.(850-852)Gag>Tag p.E284* KIRC 23 53246339 53246339 + Nonsense_Mutation SNP T T A TCGA-CZ-5467-01A-01D-1501-10 TCGA-CZ-5467-11A-01D-1501-10 g.chrX:53246339T>A c.643A>T c.(643-645)Aga>Tga p.R215* KIRC 23 53247129 53247135 + Frame_Shift_Del DEL CCACCTT CCACCTT - TCGA-B2-5641-01A-01D-1534-10 TCGA-B2-5641-10A-01D-1535-10 g.chrX:53247129_53247135delCCACCTT c.365_371delAAGGTGG c.(364-372)gaaggtggtfs p.EGG122fs KIRC 23 53247143 53247143 + Silent SNP C C G TCGA-B2-5641-01A-01D-1534-10 TCGA-B2-5641-10A-01D-1535-10 g.chrX:53247143C>G c.357G>C c.(355-357)gtG>gtC p.V119V KIRC 23 53250081 53250082 + Frame_Shift_Del DEL AA AA - TCGA-CJ-4871-01A-01D-1373-10 TCGA-CJ-4871-11A-01D-1373-10 g.chrX:53250081_53250082delAA c.167_168delTT c.(166-168)tttfs p.F56fs KIRC 23 53253992 53253992 + Frame_Shift_Del DEL G G - TCGA-BP-5202-01A-02D-1429-08 TCGA-BP-5202-11A-01D-1429-08 g.chrX:53253992delG c.80delC c.(79-81)cctfs p.P27fs KIRP 23 53223343 53223343 + Missense_Mutation SNP C C T TCGA-GL-A9DC-01A-11D-A36X-10 TCGA-GL-A9DC-10A-01D-A370-10 g.chrX:53223343C>T c.4016G>A c.(4015-4017)gGc>gAc p.G1339D LGG 23 53222210 53222210 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:53222210G>A c.4622C>T c.(4621-4623)tCc>tTc p.S1541F LGG 23 53226063 53226063 + Missense_Mutation SNP C C T TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 g.chrX:53226063C>T c.2786G>A c.(2785-2787)cGa>cAa p.R929Q LGG 23 53230839 53230839 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:53230839C>T c.1954G>A c.(1954-1956)Gct>Act p.A652T LGG 23 53239948 53239948 + Missense_Mutation SNP T T A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:53239948T>A c.1493A>T c.(1492-1494)aAg>aTg p.K498M LGG 23 53240002 53240002 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:53240002G>A c.1439C>T c.(1438-1440)cCg>cTg p.P480L LGG 23 53241017 53241017 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:53241017G>A c.1194C>T c.(1192-1194)ggC>ggT p.G398G LIHC 23 53223019 53223019 + Silent SNP C C T TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chrX:53223019C>T c.4053G>A c.(4051-4053)ctG>ctA p.L1351L LIHC 23 53226132 53226132 + Missense_Mutation SNP T T C TCGA-FV-A2QR-01A-11D-A20W-10 TCGA-FV-A2QR-11A-11D-A20W-10 g.chrX:53226132T>C c.2717A>G c.(2716-2718)gAg>gGg p.E906G LIHC 23 53228324 53228324 + Missense_Mutation SNP T T C TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chrX:53228324T>C c.2078A>G c.(2077-2079)gAg>gGg p.E693G LIHC 23 53230776 53230776 + Missense_Mutation SNP T T C TCGA-DD-AAW2-01A-11D-A40P-10 TCGA-DD-AAW2-10A-01D-A40P-10 g.chrX:53230776T>C c.2017A>G c.(2017-2019)Atg>Gtg p.M673V LIHC 23 53246991 53246991 + Missense_Mutation SNP C C A TCGA-G3-A5SM-01A-12D-A28X-10 TCGA-G3-A5SM-10A-01D-A28X-10 g.chrX:53246991C>A c.509G>T c.(508-510)gGa>gTa p.G170V LUAD 23 53222185 53222185 + Silent SNP C C G TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chrX:53222185C>G c.4647G>C c.(4645-4647)ctG>ctC p.L1549L LUAD 23 53222367 53222367 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chrX:53222367C>T c.4465G>A c.(4465-4467)Gct>Act p.A1489T LUAD 23 53222385 53222385 + Missense_Mutation SNP G G A TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chrX:53222385G>A c.4447C>T c.(4447-4449)Cgg>Tgg p.R1483W LUAD 23 53222721 53222721 + Silent SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 g.chrX:53222721C>T c.4215G>A c.(4213-4215)gaG>gaA p.E1405E LUAD 23 53223699 53223699 + Silent SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 g.chrX:53223699G>C c.3660C>G c.(3658-3660)ctC>ctG p.L1220L LUAD 23 53225159 53225159 + Frame_Shift_Del DEL T T - TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 g.chrX:53225159delT c.3059delA c.(3058-3060)cagfs p.Q1020fs LUAD 23 53225191 53225191 + Silent SNP C C T TCGA-55-A491-01A-11D-A24D-08 TCGA-55-A491-10A-01D-A24F-08 g.chrX:53225191C>T c.3027G>A c.(3025-3027)gcG>gcA p.A1009A LUAD 23 53225896 53225896 + Nonsense_Mutation SNP C C A TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chrX:53225896C>A c.2953G>T c.(2953-2955)Gag>Tag p.E985* LUAD 23 53226203 53226203 + Silent SNP G G A TCGA-55-8616-01A-11D-2393-08 TCGA-55-8616-10A-01D-2393-08 g.chrX:53226203G>A c.2646C>T c.(2644-2646)gcC>gcT p.A882A LUAD 23 53227964 53227964 + Nonsense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chrX:53227964C>A c.2350G>T c.(2350-2352)Gag>Tag p.E784* LUAD 23 53228025 53228025 + Silent SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 g.chrX:53228025C>A c.2289G>T c.(2287-2289)ctG>ctT p.L763L LUAD 23 53228302 53228302 + Silent SNP G G T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chrX:53228302G>T c.2100C>A c.(2098-2100)ctC>ctA p.L700L LUAD 23 53230770 53230770 + Nonsense_Mutation SNP G G A TCGA-05-4244-01A-01D-1105-08 TCGA-05-4244-10A-01D-1105-08 g.chrX:53230770G>A c.2023C>T c.(2023-2025)Caa>Taa p.Q675* LUAD 23 53230809 53230809 + Silent SNP G G A TCGA-55-8203-01A-11D-2238-08 TCGA-55-8203-10A-01D-2238-08 g.chrX:53230809G>A c.1984C>T c.(1984-1986)Ctg>Ttg p.L662L LUAD 23 53230827 53230827 + Missense_Mutation SNP C C T TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chrX:53230827C>T c.1966G>A c.(1966-1968)Gag>Aag p.E656K LUAD 23 53231100 53231101 + Frame_Shift_Ins INS - - A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 g.chrX:53231100_53231101insA c.1801_1802insT c.(1801-1803)tacfs p.Y601fs LUAD 23 53231148 53231148 + Missense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 g.chrX:53231148C>T c.1754G>A c.(1753-1755)cGc>cAc p.R585H LUAD 23 53239738 53239738 + Missense_Mutation SNP T T C TCGA-17-Z013-01A-01W-0746-08 TCGA-17-Z013-11A-01W-0746-08 g.chrX:53239738T>C c.1604A>G c.(1603-1605)tAt>tGt p.Y535C LUAD 23 53239923 53239923 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 g.chrX:53239923C>A c.1518G>T c.(1516-1518)atG>atT p.M506I LUAD 23 53243952 53243952 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chrX:53243952G>A c.1041C>T c.(1039-1041)gaC>gaT p.D347D LUAD 23 53244010 53244010 + Missense_Mutation SNP C C A TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chrX:53244010C>A c.983G>T c.(982-984)cGg>cTg p.R328L LUAD 23 53245042 53245042 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 g.chrX:53245042G>C c.898C>G c.(898-900)Cac>Gac p.H300D LUAD 23 53245063 53245063 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chrX:53245063delC c.877delG c.(877-879)gagfs p.E293fs LUAD 23 53245159 53245159 + Splice_Site SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 g.chrX:53245159C>G c.e7-1 LUAD 23 53245268 53245268 + Missense_Mutation SNP G G C TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chrX:53245268G>C c.769C>G c.(769-771)Ctg>Gtg p.L257V LUAD 23 53245284 53245284 + Missense_Mutation SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 g.chrX:53245284C>G c.753G>C c.(751-753)atG>atC p.M251I LUAD 23 53246992 53246992 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chrX:53246992C>A c.508G>T c.(508-510)Gga>Tga p.G170* LUSC 23 53228048 53228048 + Missense_Mutation SNP G G T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 g.chrX:53228048G>T c.2266C>A c.(2266-2268)Ctt>Att p.L756I LUSC 23 53230856 53230856 + Missense_Mutation SNP T T A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 g.chrX:53230856T>A c.1937A>T c.(1936-1938)gAg>gTg p.E646V LUSC 23 53231062 53231062 + Missense_Mutation SNP C C A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 g.chrX:53231062C>A c.1840G>T c.(1840-1842)Gct>Tct p.A614S LUSC 23 53241055 53241055 + Missense_Mutation SNP C C G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 g.chrX:53241055C>G c.1156G>C c.(1156-1158)Gag>Cag p.E386Q LUSC 23 53246997 53246997 + Missense_Mutation SNP T T A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 g.chrX:53246997T>A c.503A>T c.(502-504)cAg>cTg p.Q168L LUSC 23 53250047 53250047 + Silent SNP G G T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 g.chrX:53250047G>T c.202C>A c.(202-204)Cga>Aga p.R68R OV 23 53222193 53222193 + Silent SNP G G A TCGA-09-1664-01A-01W-0639-09 TCGA-09-1664-11A-01W-0639-09 g.chrX:53222193G>A c.4639C>T c.(4639-4641)Ctg>Ttg p.L1547L OV 23 53222396 53222396 + Frame_Shift_Del DEL G G - TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 g.chrX:53222396delG c.4436delC c.(4435-4437)ccafs p.P1479fs OV 23 53222650 53222650 + Missense_Mutation SNP G G A TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 g.chrX:53222650G>A c.4286C>T c.(4285-4287)cCa>cTa p.P1429L OV 23 53226114 53226114 + Missense_Mutation SNP C C T TCGA-04-1331-01A-01W-0486-08 TCGA-04-1331-10A-01W-0486-08 g.chrX:53226114C>T c.2735G>A c.(2734-2736)gGg>gAg p.G912E OV 23 53230865 53230865 + Missense_Mutation SNP G G A TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 g.chrX:53230865G>A c.1928C>T c.(1927-1929)tCc>tTc p.S643F OV 23 53239653 53239654 + Frame_Shift_Ins INS - - A TCGA-24-1434-01A-01W-0545-08 TCGA-24-1434-10A-01W-0545-08 g.chrX:53239653_53239654insA c.1688_1689insT c.(1687-1689)ctcfs p.L563fs OV 23 53239909 53239917 + In_Frame_Del DEL AAGGCTGAG AAGGCTGAG - TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 g.chrX:53239909_53239917delAAGGCTGAG c.1524_1532delCTCAGCCTT c.(1522-1533)ttctcagccttt>ttt p.508_511FSAF>F OV 23 53246446 53246446 + Missense_Mutation SNP C C T TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 g.chrX:53246446C>T c.536G>A c.(535-537)cGt>cAt p.R179H OV 23 53254005 53254005 + Missense_Mutation SNP C C G TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 g.chrX:53254005C>G c.67G>C c.(67-69)Gag>Cag p.E23Q PAAD 23 53245326 53245326 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:53245326C>A c.711G>T c.(709-711)caG>caT p.Q237H PCPG 23 53231143 53231143 + Missense_Mutation SNP T T C TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 g.chrX:53231143T>C c.1759A>G c.(1759-1761)Aac>Gac p.N587D READ 23 53223695 53223695 + Missense_Mutation SNP A A G TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chrX:53223695A>G c.3664T>C c.(3664-3666)Tct>Cct p.S1222P READ 23 53230860 53230860 + Nonsense_Mutation SNP C C A TCGA-CI-6622-01A-11D-1826-10 TCGA-CI-6622-10A-01D-1826-10 g.chrX:53230860C>A c.1933G>T c.(1933-1935)Gag>Tag p.E645* SARC 23 53222217 53222217 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chrX:53222217G>A c.4615C>T c.(4615-4617)Cct>Tct p.P1539S SARC 23 53223903 53223903 + Missense_Mutation SNP C C G TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 g.chrX:53223903C>G c.3456G>C c.(3454-3456)gaG>gaC p.E1152D SARC 23 53226161 53226178 + In_Frame_Del DEL GGAGGGCAGTGAGGCCAG GGAGGGCAGTGAGGCCAG - TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chrX:53226161_53226178delGGAGGGCAGTGAGGCCAG c.2671_2688delCTGGCCTCACTGCCCTCC c.(2671-2688)ctggcctcactgccctccdel p.LASLPS891del SARC 23 53239969 53239969 + Missense_Mutation SNP T T C TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 g.chrX:53239969T>C c.1472A>G c.(1471-1473)aAt>aGt p.N491S SARC 23 53246347 53246347 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 g.chrX:53246347C>T c.635G>A c.(634-636)cGg>cAg p.R212Q SKCM 23 53222222 53222222 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chrX:53222222G>A c.4610C>T c.(4609-4611)tCg>tTg p.S1537L SKCM 23 53222467 53222467 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chrX:53222467C>T c.4365G>A c.(4363-4365)ctG>ctA p.L1455L SKCM 23 53223567 53223567 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 g.chrX:53223567G>A c.3792C>T c.(3790-3792)gcC>gcT p.A1264A SKCM 23 53223707 53223707 + Missense_Mutation SNP G G A TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chrX:53223707G>A c.3652C>T c.(3652-3654)Cgc>Tgc p.R1218C SKCM 23 53223912 53223912 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:53223912G>A c.3447C>T c.(3445-3447)gcC>gcT p.A1149A SKCM 23 53240720 53240720 + Missense_Mutation SNP G G A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 g.chrX:53240720G>A c.1360C>T c.(1360-1362)Cct>Tct p.P454S SKCM 23 53243945 53243945 + Missense_Mutation SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chrX:53243945G>A c.1048C>T c.(1048-1050)Cac>Tac p.H350Y SKCM 23 53245323 53245323 + Silent SNP G G A TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chrX:53245323G>A c.714C>T c.(712-714)atC>atT p.I238I SKCM 23 53245345 53245345 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 g.chrX:53245345G>A c.692C>T c.(691-693)cCa>cTa p.P231L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US X 53224150 53224150 single base substitution C T downstream_gene_variant ALL-US X 53224150 53224150 single base substitution C T missense_variant G1067E 3200G>A ALL-US X 53224150 53224150 single base substitution C T missense_variant G1093E 3278G>A ALL-US X 53224150 53224150 single base substitution C T missense_variant G1133E 3398G>A ALL-US X 53224150 53224150 single base substitution C T missense_variant G1134E 3401G>A BLCA-US X 53222481 53222481 single base substitution G T downstream_gene_variant BLCA-US X 53222481 53222481 single base substitution G T intron_variant BLCA-US X 53222481 53222481 single base substitution G T synonymous_variant R1407R 4219C>A BLCA-US X 53222481 53222481 single base substitution G T synonymous_variant R1448R 4342C>A BLCA-US X 53222481 53222481 single base substitution G T synonymous_variant R1450R 4348C>A BLCA-US X 53222481 53222481 single base substitution G T synonymous_variant R1451R 4351C>A BLCA-US X 53247478 53247478 single base substitution C T 3_prime_UTR_variant BLCA-US X 53247478 53247478 single base substitution C T downstream_gene_variant BLCA-US X 53247478 53247478 single base substitution C T exon_variant BLCA-US X 53247478 53247478 single base substitution C T intron_variant BLCA-US X 53247478 53247478 single base substitution C T missense_variant D111N 331G>A BLCA-US X 53247478 53247478 single base substitution C T upstream_gene_variant BOCA-FR X 53227363 53227363 single base substitution C T downstream_gene_variant BOCA-FR X 53227363 53227363 single base substitution C T intron_variant BOCA-FR X 53250204 53250204 single base substitution T C downstream_gene_variant BOCA-FR X 53250204 53250204 single base substitution T C intron_variant BOCA-FR X 53250204 53250204 single base substitution T C upstream_gene_variant BRCA-EU X 53216214 53216214 single base substitution T C downstream_gene_variant BRCA-EU X 53216220 53216220 single base substitution G T downstream_gene_variant BRCA-EU X 53217396 53217396 single base substitution G T downstream_gene_variant BRCA-EU X 53217438 53217438 single base substitution A G downstream_gene_variant BRCA-EU X 53217709 53217709 insertion of <=200bp - GACG downstream_gene_variant BRCA-EU X 53218532 53218532 single base substitution C G downstream_gene_variant BRCA-EU X 53219446 53219446 single base substitution C G downstream_gene_variant BRCA-EU X 53219819 53219819 single base substitution C G downstream_gene_variant BRCA-EU X 53221292 53221292 single base substitution T C 3_prime_UTR_variant BRCA-EU X 53221292 53221292 single base substitution T C downstream_gene_variant BRCA-EU X 53223169 53223169 single base substitution G A downstream_gene_variant BRCA-EU X 53223169 53223169 single base substitution G A intron_variant BRCA-EU X 53223310 53223310 single base substitution G C downstream_gene_variant BRCA-EU X 53223310 53223310 single base substitution G C intron_variant BRCA-EU X 53223423 53223423 single base substitution G T downstream_gene_variant BRCA-EU X 53223423 53223423 single base substitution G T synonymous_variant R1245R 3735C>A BRCA-EU X 53223423 53223423 single base substitution G T synonymous_variant R1271R 3813C>A BRCA-EU X 53223423 53223423 single base substitution G T synonymous_variant R1311R 3933C>A BRCA-EU X 53223423 53223423 single base substitution G T synonymous_variant R1312R 3936C>A BRCA-EU X 53224934 53224934 single base substitution C G downstream_gene_variant BRCA-EU X 53224934 53224934 single base substitution C G intron_variant BRCA-EU X 53225288 53225288 single base substitution G C downstream_gene_variant BRCA-EU X 53225288 53225288 single base substitution G C intron_variant BRCA-EU X 53225428 53225428 single base substitution C G downstream_gene_variant BRCA-EU X 53225428 53225428 single base substitution C G intron_variant BRCA-EU X 53228252 53228252 single base substitution G A downstream_gene_variant BRCA-EU X 53228252 53228252 single base substitution G A exon_variant BRCA-EU X 53228252 53228252 single base substitution G A missense_variant S650L 1949C>T BRCA-EU X 53228252 53228252 single base substitution G A missense_variant S676L 2027C>T BRCA-EU X 53228252 53228252 single base substitution G A missense_variant S716L 2147C>T BRCA-EU X 53228252 53228252 single base substitution G A missense_variant S717L 2150C>T BRCA-EU X 53228252 53228252 single base substitution G A upstream_gene_variant BRCA-EU X 53229930 53229930 single base substitution T A downstream_gene_variant BRCA-EU X 53229930 53229930 single base substitution T A intron_variant BRCA-EU X 53229930 53229930 single base substitution T A upstream_gene_variant BRCA-EU X 53230241 53230241 single base substitution G C downstream_gene_variant BRCA-EU X 53230241 53230241 single base substitution G C intron_variant BRCA-EU X 53230241 53230241 single base substitution G C upstream_gene_variant BRCA-EU X 53230764 53230764 single base substitution C T exon_variant BRCA-EU X 53230764 53230764 single base substitution C T missense_variant E610K 1828G>A BRCA-EU X 53230764 53230764 single base substitution C T missense_variant E636K 1906G>A BRCA-EU X 53230764 53230764 single base substitution C T missense_variant E676K 2026G>A BRCA-EU X 53230764 53230764 single base substitution C T missense_variant E677K 2029G>A BRCA-EU X 53230764 53230764 single base substitution C T upstream_gene_variant BRCA-EU X 53230913 53230913 single base substitution C T exon_variant BRCA-EU X 53230913 53230913 single base substitution C T missense_variant R560H 1679G>A BRCA-EU X 53230913 53230913 single base substitution C T missense_variant R586H 1757G>A BRCA-EU X 53230913 53230913 single base substitution C T missense_variant R626H 1877G>A BRCA-EU X 53230913 53230913 single base substitution C T missense_variant R627H 1880G>A BRCA-EU X 53230913 53230913 single base substitution C T upstream_gene_variant BRCA-EU X 53230931 53230931 single base substitution G T intron_variant BRCA-EU X 53230931 53230931 single base substitution G T splice_region_variant BRCA-EU X 53230931 53230931 single base substitution G T upstream_gene_variant BRCA-EU X 53231711 53231711 single base substitution A C exon_variant BRCA-EU X 53231711 53231711 single base substitution A C intron_variant BRCA-EU X 53231711 53231711 single base substitution A C upstream_gene_variant BRCA-EU X 53232018 53232018 single base substitution G C intron_variant BRCA-EU X 53232018 53232018 single base substitution G C upstream_gene_variant BRCA-EU X 53235222 53235222 single base substitution G A intron_variant BRCA-EU X 53235222 53235222 single base substitution G A upstream_gene_variant BRCA-EU X 53236815 53236815 single base substitution G T intron_variant BRCA-EU X 53236815 53236815 single base substitution G T upstream_gene_variant BRCA-EU X 53239871 53239871 single base substitution T G exon_variant BRCA-EU X 53239871 53239871 single base substitution T G missense_variant N457H 1369A>C BRCA-EU X 53239871 53239871 single base substitution T G missense_variant N483H 1447A>C BRCA-EU X 53239871 53239871 single base substitution T G missense_variant N523H 1567A>C BRCA-EU X 53239871 53239871 single base substitution T G missense_variant N524H 1570A>C BRCA-EU X 53239871 53239871 single base substitution T G upstream_gene_variant BRCA-EU X 53240220 53240220 single base substitution A T downstream_gene_variant BRCA-EU X 53240220 53240220 single base substitution A T intron_variant BRCA-EU X 53240220 53240220 single base substitution A T upstream_gene_variant BRCA-EU X 53241737 53241737 single base substitution T C downstream_gene_variant BRCA-EU X 53241737 53241737 single base substitution T C intron_variant BRCA-EU X 53241737 53241737 single base substitution T C upstream_gene_variant BRCA-EU X 53243186 53243186 single base substitution G C downstream_gene_variant BRCA-EU X 53243186 53243186 single base substitution G C intron_variant BRCA-EU X 53243186 53243186 single base substitution G C upstream_gene_variant BRCA-EU X 53244542 53244542 single base substitution G A downstream_gene_variant BRCA-EU X 53244542 53244542 single base substitution G A intron_variant BRCA-EU X 53244542 53244542 single base substitution G A upstream_gene_variant BRCA-EU X 53245489 53245489 single base substitution A C downstream_gene_variant BRCA-EU X 53245489 53245489 single base substitution A C intron_variant BRCA-EU X 53245489 53245489 single base substitution A C upstream_gene_variant BRCA-EU X 53246155 53246155 single base substitution G A downstream_gene_variant BRCA-EU X 53246155 53246155 single base substitution G A intron_variant BRCA-EU X 53246937 53246937 single base substitution G A downstream_gene_variant BRCA-EU X 53246937 53246937 single base substitution G A intron_variant BRCA-EU X 53246937 53246937 single base substitution G A upstream_gene_variant BRCA-EU X 53248436 53248436 single base substitution C A downstream_gene_variant BRCA-EU X 53248436 53248436 single base substitution C A intron_variant BRCA-EU X 53248436 53248436 single base substitution C A upstream_gene_variant BRCA-EU X 53248929 53248929 single base substitution G T downstream_gene_variant BRCA-EU X 53248929 53248929 single base substitution G T intron_variant BRCA-EU X 53248929 53248929 single base substitution G T upstream_gene_variant BRCA-EU X 53250830 53250830 single base substitution G A downstream_gene_variant BRCA-EU X 53250830 53250830 single base substitution G A intron_variant BRCA-EU X 53250830 53250830 single base substitution G A upstream_gene_variant BRCA-EU X 53251567 53251567 single base substitution C A intron_variant BRCA-EU X 53251567 53251567 single base substitution C A upstream_gene_variant BRCA-EU X 53252168 53252168 single base substitution G C intron_variant BRCA-EU X 53252168 53252168 single base substitution G C upstream_gene_variant BRCA-EU X 53252906 53252906 single base substitution C A intron_variant BRCA-EU X 53252906 53252906 single base substitution C A upstream_gene_variant BRCA-EU X 53253464 53253464 single base substitution A G intron_variant BRCA-EU X 53253464 53253464 single base substitution A G upstream_gene_variant BRCA-EU X 53254624 53254624 single base substitution A C upstream_gene_variant BRCA-EU X 53254681 53254681 single base substitution G A upstream_gene_variant BRCA-EU X 53254691 53254691 single base substitution C T upstream_gene_variant BRCA-EU X 53254880 53254880 single base substitution G A upstream_gene_variant BRCA-EU X 53254943 53254943 single base substitution G A upstream_gene_variant BRCA-EU X 53257411 53257411 single base substitution G A upstream_gene_variant BRCA-EU X 53257732 53257732 single base substitution C G upstream_gene_variant BRCA-EU X 53257827 53257827 single base substitution A G upstream_gene_variant BRCA-EU X 53257986 53257986 single base substitution A G upstream_gene_variant BRCA-EU X 53258681 53258681 single base substitution G C upstream_gene_variant BRCA-EU X 53258767 53258767 single base substitution C A upstream_gene_variant BRCA-EU X 53258867 53258867 single base substitution C T upstream_gene_variant BRCA-EU X 53258911 53258911 single base substitution C T upstream_gene_variant BRCA-FR X 53216220 53216220 single base substitution G T downstream_gene_variant BRCA-FR X 53217438 53217438 single base substitution A G downstream_gene_variant BRCA-FR X 53218532 53218532 single base substitution C G downstream_gene_variant BRCA-FR X 53223169 53223169 single base substitution G A downstream_gene_variant BRCA-FR X 53223169 53223169 single base substitution G A intron_variant BRCA-FR X 53224934 53224934 single base substitution C G downstream_gene_variant BRCA-FR X 53224934 53224934 single base substitution C G intron_variant BRCA-FR X 53225428 53225428 single base substitution C G downstream_gene_variant BRCA-FR X 53225428 53225428 single base substitution C G intron_variant BRCA-FR X 53234791 53234791 single base substitution C T intron_variant BRCA-FR X 53234791 53234791 single base substitution C T upstream_gene_variant BRCA-FR X 53235222 53235222 single base substitution G A intron_variant BRCA-FR X 53235222 53235222 single base substitution G A upstream_gene_variant BRCA-FR X 53241948 53241948 single base substitution G A downstream_gene_variant BRCA-FR X 53241948 53241948 single base substitution G A intron_variant BRCA-FR X 53241948 53241948 single base substitution G A upstream_gene_variant BRCA-FR X 53252906 53252906 single base substitution C A intron_variant BRCA-FR X 53252906 53252906 single base substitution C A upstream_gene_variant BRCA-FR X 53253464 53253464 single base substitution A G intron_variant BRCA-FR X 53253464 53253464 single base substitution A G upstream_gene_variant BRCA-FR X 53254398 53254398 single base substitution C T 5_prime_UTR_variant BRCA-FR X 53254398 53254398 single base substitution C T upstream_gene_variant BRCA-FR X 53254943 53254943 single base substitution G A upstream_gene_variant BRCA-FR X 53258767 53258767 single base substitution C A upstream_gene_variant BRCA-UK X 53225720 53225720 single base substitution G A downstream_gene_variant BRCA-UK X 53225720 53225720 single base substitution G A intron_variant BRCA-UK X 53228252 53228252 single base substitution G A downstream_gene_variant BRCA-UK X 53228252 53228252 single base substitution G A exon_variant BRCA-UK X 53228252 53228252 single base substitution G A missense_variant S650L 1949C>T BRCA-UK X 53228252 53228252 single base substitution G A missense_variant S676L 2027C>T BRCA-UK X 53228252 53228252 single base substitution G A missense_variant S716L 2147C>T BRCA-UK X 53228252 53228252 single base substitution G A missense_variant S717L 2150C>T BRCA-UK X 53228252 53228252 single base substitution G A upstream_gene_variant BRCA-UK X 53229930 53229930 single base substitution T A downstream_gene_variant BRCA-UK X 53229930 53229930 single base substitution T A intron_variant BRCA-UK X 53229930 53229930 single base substitution T A upstream_gene_variant BRCA-UK X 53252168 53252168 single base substitution G C intron_variant BRCA-UK X 53252168 53252168 single base substitution G C upstream_gene_variant BRCA-UK X 53254624 53254624 single base substitution A C upstream_gene_variant BRCA-US X 53223476 53223476 single base substitution C G downstream_gene_variant BRCA-US X 53223476 53223476 single base substitution C G missense_variant A1228P 3682G>C BRCA-US X 53223476 53223476 single base substitution C G missense_variant A1254P 3760G>C BRCA-US X 53223476 53223476 single base substitution C G missense_variant A1294P 3880G>C BRCA-US X 53223476 53223476 single base substitution C G missense_variant A1295P 3883G>C BRCA-US X 53223478 53223478 single base substitution T A downstream_gene_variant BRCA-US X 53223478 53223478 single base substitution T A missense_variant Q1227L 3680A>T BRCA-US X 53223478 53223478 single base substitution T A missense_variant Q1253L 3758A>T BRCA-US X 53223478 53223478 single base substitution T A missense_variant Q1293L 3878A>T BRCA-US X 53223478 53223478 single base substitution T A missense_variant Q1294L 3881A>T BRCA-US X 53223508 53223509 deletion of <=200bp CT - downstream_gene_variant BRCA-US X 53223508 53223509 deletion of <=200bp CT - frameshift_variant R1217 BRCA-US X 53223508 53223509 deletion of <=200bp CT - frameshift_variant R1243 BRCA-US X 53223508 53223509 deletion of <=200bp CT - frameshift_variant R1283 BRCA-US X 53223508 53223509 deletion of <=200bp CT - frameshift_variant R1284 BRCA-US X 53223539 53223539 single base substitution C T downstream_gene_variant BRCA-US X 53223539 53223539 single base substitution C T missense_variant E1207K 3619G>A BRCA-US X 53223539 53223539 single base substitution C T missense_variant E1233K 3697G>A BRCA-US X 53223539 53223539 single base substitution C T missense_variant E1273K 3817G>A BRCA-US X 53223539 53223539 single base substitution C T missense_variant E1274K 3820G>A BRCA-US X 53224232 53224232 single base substitution C G downstream_gene_variant BRCA-US X 53224232 53224232 single base substitution C G missense_variant D1040H 3118G>C BRCA-US X 53224232 53224232 single base substitution C G missense_variant D1066H 3196G>C BRCA-US X 53224232 53224232 single base substitution C G missense_variant D1106H 3316G>C BRCA-US X 53224232 53224232 single base substitution C G missense_variant D1107H 3319G>C BRCA-US X 53224485 53224485 insertion of <=200bp - GGT downstream_gene_variant BRCA-US X 53224485 53224485 insertion of <=200bp - GGT inframe_insertion L1009LT BRCA-US X 53224485 53224485 insertion of <=200bp - GGT inframe_insertion L1035LT BRCA-US X 53224485 53224485 insertion of <=200bp - GGT inframe_insertion L1075LT BRCA-US X 53224485 53224485 insertion of <=200bp - GGT inframe_insertion L1076LT BRCA-US X 53224486 53224486 single base substitution A G downstream_gene_variant BRCA-US X 53224486 53224486 single base substitution A G missense_variant L1009P 3026T>C BRCA-US X 53224486 53224486 single base substitution A G missense_variant L1035P 3104T>C BRCA-US X 53224486 53224486 single base substitution A G missense_variant L1075P 3224T>C BRCA-US X 53224486 53224486 single base substitution A G missense_variant L1076P 3227T>C BRCA-US X 53225218 53225218 single base substitution G A downstream_gene_variant BRCA-US X 53225218 53225218 single base substitution G A synonymous_variant A1000A 3000C>T BRCA-US X 53225218 53225218 single base substitution G A synonymous_variant A933A 2799C>T BRCA-US X 53225218 53225218 single base substitution G A synonymous_variant A959A 2877C>T BRCA-US X 53225218 53225218 single base substitution G A synonymous_variant A999A 2997C>T BRCA-US X 53225894 53225894 single base substitution C T downstream_gene_variant BRCA-US X 53225894 53225894 single base substitution C T synonymous_variant E918E 2754G>A BRCA-US X 53225894 53225894 single base substitution C T synonymous_variant E944E 2832G>A BRCA-US X 53225894 53225894 single base substitution C T synonymous_variant E984E 2952G>A BRCA-US X 53225894 53225894 single base substitution C T synonymous_variant E985E 2955G>A BRCA-US X 53225908 53225908 single base substitution C T downstream_gene_variant BRCA-US X 53225908 53225908 single base substitution C T missense_variant E914K 2740G>A BRCA-US X 53225908 53225908 single base substitution C T missense_variant E940K 2818G>A BRCA-US X 53225908 53225908 single base substitution C T missense_variant E980K 2938G>A BRCA-US X 53225908 53225908 single base substitution C T missense_variant E981K 2941G>A BRCA-US X 53230805 53230805 single base substitution G A exon_variant BRCA-US X 53230805 53230805 single base substitution G A missense_variant A596V 1787C>T BRCA-US X 53230805 53230805 single base substitution G A missense_variant A622V 1865C>T BRCA-US X 53230805 53230805 single base substitution G A missense_variant A662V 1985C>T BRCA-US X 53230805 53230805 single base substitution G A missense_variant A663V 1988C>T BRCA-US X 53230805 53230805 single base substitution G A upstream_gene_variant BRCA-US X 53240703 53240703 single base substitution T G downstream_gene_variant BRCA-US X 53240703 53240703 single base substitution T G exon_variant BRCA-US X 53240703 53240703 single base substitution T G missense_variant K392N 1176A>C BRCA-US X 53240703 53240703 single base substitution T G missense_variant K418N 1254A>C BRCA-US X 53240703 53240703 single base substitution T G missense_variant K458N 1374A>C BRCA-US X 53240703 53240703 single base substitution T G missense_variant K459N 1377A>C BRCA-US X 53240703 53240703 single base substitution T G upstream_gene_variant BRCA-US X 53247017 53247017 single base substitution A C 3_prime_UTR_variant BRCA-US X 53247017 53247017 single base substitution A C downstream_gene_variant BRCA-US X 53247017 53247017 single base substitution A C exon_variant BRCA-US X 53247017 53247017 single base substitution A C synonymous_variant V120V 360T>G BRCA-US X 53247017 53247017 single base substitution A C synonymous_variant V161V 483T>G BRCA-US X 53247017 53247017 single base substitution A C synonymous_variant V94V 282T>G BRCA-US X 53247017 53247017 single base substitution A C upstream_gene_variant BRCA-US X 53247464 53247464 single base substitution G A 3_prime_UTR_variant BRCA-US X 53247464 53247464 single base substitution G A downstream_gene_variant BRCA-US X 53247464 53247464 single base substitution G A exon_variant BRCA-US X 53247464 53247464 single base substitution G A intron_variant BRCA-US X 53247464 53247464 single base substitution G A synonymous_variant L115L 345C>T BRCA-US X 53247464 53247464 single base substitution G A upstream_gene_variant BRCA-US X 53247612 53247612 single base substitution A C downstream_gene_variant BRCA-US X 53247612 53247612 single base substitution A C exon_variant BRCA-US X 53247612 53247612 single base substitution A C intron_variant BRCA-US X 53247612 53247612 single base substitution A C upstream_gene_variant BRCA-US X 53250992 53250992 single base substitution T C exon_variant BRCA-US X 53250992 53250992 single base substitution T C intron_variant BRCA-US X 53250992 53250992 single base substitution T C upstream_gene_variant BTCA-JP X 53226066 53226066 single base substitution G A downstream_gene_variant BTCA-JP X 53226066 53226066 single base substitution G A missense_variant A861V 2582C>T BTCA-JP X 53226066 53226066 single base substitution G A missense_variant A887V 2660C>T BTCA-JP X 53226066 53226066 single base substitution G A missense_variant A927V 2780C>T BTCA-JP X 53226066 53226066 single base substitution G A missense_variant A928V 2783C>T BTCA-JP X 53240953 53240953 single base substitution G A downstream_gene_variant BTCA-JP X 53240953 53240953 single base substitution G A intron_variant BTCA-JP X 53240953 53240953 single base substitution G A upstream_gene_variant CESC-US X 53222364 53222364 single base substitution C T downstream_gene_variant CESC-US X 53222364 53222364 single base substitution C T intron_variant CESC-US X 53222364 53222364 single base substitution C T missense_variant E1446K 4336G>A CESC-US X 53222364 53222364 single base substitution C T missense_variant E1487K 4459G>A CESC-US X 53222364 53222364 single base substitution C T missense_variant E1489K 4465G>A CESC-US X 53222364 53222364 single base substitution C T missense_variant E1490K 4468G>A CESC-US X 53223512 53223512 single base substitution C T downstream_gene_variant CESC-US X 53223512 53223512 single base substitution C T missense_variant E1216K 3646G>A CESC-US X 53223512 53223512 single base substitution C T missense_variant E1242K 3724G>A CESC-US X 53223512 53223512 single base substitution C T missense_variant E1282K 3844G>A CESC-US X 53223512 53223512 single base substitution C T missense_variant E1283K 3847G>A CESC-US X 53228252 53228252 single base substitution G C downstream_gene_variant CESC-US X 53228252 53228252 single base substitution G C exon_variant CESC-US X 53228252 53228252 single base substitution G C stop_gained S650* 1949C>G CESC-US X 53228252 53228252 single base substitution G C stop_gained S676* 2027C>G CESC-US X 53228252 53228252 single base substitution G C stop_gained S716* 2147C>G CESC-US X 53228252 53228252 single base substitution G C stop_gained S717* 2150C>G CESC-US X 53228252 53228252 single base substitution G C upstream_gene_variant CESC-US X 53228335 53228335 single base substitution G A downstream_gene_variant CESC-US X 53228335 53228335 single base substitution G A exon_variant CESC-US X 53228335 53228335 single base substitution G A synonymous_variant I622I 1866C>T CESC-US X 53228335 53228335 single base substitution G A synonymous_variant I648I 1944C>T CESC-US X 53228335 53228335 single base substitution G A synonymous_variant I688I 2064C>T CESC-US X 53228335 53228335 single base substitution G A synonymous_variant I689I 2067C>T CESC-US X 53228335 53228335 single base substitution G A upstream_gene_variant CESC-US X 53253976 53253976 single base substitution C G exon_variant CESC-US X 53253976 53253976 single base substitution C G synonymous_variant A32A 96G>C CESC-US X 53253976 53253976 single base substitution C G upstream_gene_variant CESC-US X 53253979 53253979 single base substitution G A exon_variant CESC-US X 53253979 53253979 single base substitution G A synonymous_variant I31I 93C>T CESC-US X 53253979 53253979 single base substitution G A upstream_gene_variant CLLE-ES X 53219816 53219816 single base substitution G C downstream_gene_variant CLLE-ES X 53251745 53251745 single base substitution G A intron_variant CLLE-ES X 53251745 53251745 single base substitution G A upstream_gene_variant COAD-US X 53222360 53222360 single base substitution T C downstream_gene_variant COAD-US X 53222360 53222360 single base substitution T C intron_variant COAD-US X 53222360 53222360 single base substitution T C missense_variant E1447G 4340A>G COAD-US X 53222360 53222360 single base substitution T C missense_variant E1488G 4463A>G COAD-US X 53222360 53222360 single base substitution T C missense_variant E1490G 4469A>G COAD-US X 53222360 53222360 single base substitution T C missense_variant E1491G 4472A>G COAD-US X 53224536 53224536 single base substitution C A downstream_gene_variant COAD-US X 53224536 53224536 single base substitution C A synonymous_variant R1018R 3054G>T COAD-US X 53224536 53224536 single base substitution C A synonymous_variant R1058R 3174G>T COAD-US X 53224536 53224536 single base substitution C A synonymous_variant R1059R 3177G>T COAD-US X 53224536 53224536 single base substitution C A synonymous_variant R992R 2976G>T COAD-US X 53225900 53225900 single base substitution C T downstream_gene_variant COAD-US X 53225900 53225900 single base substitution C T stop_gained W916* 2748G>A COAD-US X 53225900 53225900 single base substitution C T stop_gained W942* 2826G>A COAD-US X 53225900 53225900 single base substitution C T stop_gained W982* 2946G>A COAD-US X 53225900 53225900 single base substitution C T stop_gained W983* 2949G>A COAD-US X 53230786 53230788 deletion of <=200bp CTC - exon_variant COAD-US X 53230786 53230788 deletion of <=200bp CTC - inframe_deletion E602 COAD-US X 53230786 53230788 deletion of <=200bp CTC - inframe_deletion E628 COAD-US X 53230786 53230788 deletion of <=200bp CTC - inframe_deletion E668 COAD-US X 53230786 53230788 deletion of <=200bp CTC - inframe_deletion E669 COAD-US X 53230786 53230788 deletion of <=200bp CTC - upstream_gene_variant COAD-US X 53239623 53239623 single base substitution G T exon_variant COAD-US X 53239623 53239623 single base substitution G T synonymous_variant P506P 1518C>A COAD-US X 53239623 53239623 single base substitution G T synonymous_variant P532P 1596C>A COAD-US X 53239623 53239623 single base substitution G T synonymous_variant P572P 1716C>A COAD-US X 53239623 53239623 single base substitution G T synonymous_variant P573P 1719C>A COAD-US X 53240685 53240685 single base substitution T A downstream_gene_variant COAD-US X 53240685 53240685 single base substitution T A exon_variant COAD-US X 53240685 53240685 single base substitution T A missense_variant E398D 1194A>T COAD-US X 53240685 53240685 single base substitution T A missense_variant E424D 1272A>T COAD-US X 53240685 53240685 single base substitution T A missense_variant E464D 1392A>T COAD-US X 53240685 53240685 single base substitution T A missense_variant E465D 1395A>T COAD-US X 53240685 53240685 single base substitution T A upstream_gene_variant COAD-US X 53246418 53246418 single base substitution C T downstream_gene_variant COAD-US X 53246418 53246418 single base substitution C T synonymous_variant K121K 363G>A COAD-US X 53246418 53246418 single base substitution C T synonymous_variant K147K 441G>A COAD-US X 53246418 53246418 single base substitution C T synonymous_variant K187K 561G>A COAD-US X 53246418 53246418 single base substitution C T synonymous_variant K188K 564G>A COAD-US X 53246418 53246418 single base substitution C T upstream_gene_variant COCA-CN X 53222566 53222566 single base substitution G C downstream_gene_variant COCA-CN X 53222566 53222566 single base substitution G C intron_variant COCA-CN X 53222886 53222886 single base substitution G A downstream_gene_variant COCA-CN X 53222886 53222886 single base substitution G A intron_variant COCA-CN X 53224177 53224177 single base substitution A G downstream_gene_variant COCA-CN X 53224177 53224177 single base substitution A G missense_variant L1058S 3173T>C COCA-CN X 53224177 53224177 single base substitution A G missense_variant L1084S 3251T>C COCA-CN X 53224177 53224177 single base substitution A G missense_variant L1124S 3371T>C COCA-CN X 53224177 53224177 single base substitution A G missense_variant L1125S 3374T>C COCA-CN X 53226066 53226066 single base substitution G A downstream_gene_variant COCA-CN X 53226066 53226066 single base substitution G A missense_variant A861V 2582C>T COCA-CN X 53226066 53226066 single base substitution G A missense_variant A887V 2660C>T COCA-CN X 53226066 53226066 single base substitution G A missense_variant A927V 2780C>T COCA-CN X 53226066 53226066 single base substitution G A missense_variant A928V 2783C>T COCA-CN X 53227779 53227779 single base substitution C T downstream_gene_variant COCA-CN X 53227779 53227779 single base substitution C T exon_variant COCA-CN X 53227779 53227779 single base substitution C T synonymous_variant E736E 2208G>A COCA-CN X 53227779 53227779 single base substitution C T synonymous_variant E762E 2286G>A COCA-CN X 53227779 53227779 single base substitution C T synonymous_variant E802E 2406G>A COCA-CN X 53227779 53227779 single base substitution C T synonymous_variant E803E 2409G>A COCA-CN X 53227779 53227779 single base substitution C T upstream_gene_variant COCA-CN X 53228383 53228384 multiple base substitution (>=2bp and <=200bp) GT TC downstream_gene_variant COCA-CN X 53228383 53228384 multiple base substitution (>=2bp and <=200bp) GT TC intron_variant COCA-CN X 53228383 53228384 multiple base substitution (>=2bp and <=200bp) GT TC upstream_gene_variant COCA-CN X 53245101 53245101 single base substitution T A downstream_gene_variant COCA-CN X 53245101 53245101 single base substitution T A exon_variant COCA-CN X 53245101 53245101 single base substitution T A missense_variant D213V 638A>T COCA-CN X 53245101 53245101 single base substitution T A missense_variant D239V 716A>T COCA-CN X 53245101 53245101 single base substitution T A missense_variant D279V 836A>T COCA-CN X 53245101 53245101 single base substitution T A missense_variant D280V 839A>T COCA-CN X 53245101 53245101 single base substitution T A upstream_gene_variant ESCA-CN X 53223395 53223395 single base substitution C G downstream_gene_variant ESCA-CN X 53223395 53223395 single base substitution C G missense_variant E1255Q 3763G>C ESCA-CN X 53223395 53223395 single base substitution C G missense_variant E1281Q 3841G>C ESCA-CN X 53223395 53223395 single base substitution C G missense_variant E1321Q 3961G>C ESCA-CN X 53223395 53223395 single base substitution C G missense_variant E1322Q 3964G>C ESCA-CN X 53223533 53223533 single base substitution C T downstream_gene_variant ESCA-CN X 53223533 53223533 single base substitution C T missense_variant E1209K 3625G>A ESCA-CN X 53223533 53223533 single base substitution C T missense_variant E1235K 3703G>A ESCA-CN X 53223533 53223533 single base substitution C T missense_variant E1275K 3823G>A ESCA-CN X 53223533 53223533 single base substitution C T missense_variant E1276K 3826G>A ESCA-CN X 53223545 53223545 single base substitution G C downstream_gene_variant ESCA-CN X 53223545 53223545 single base substitution G C missense_variant L1205V 3613C>G ESCA-CN X 53223545 53223545 single base substitution G C missense_variant L1231V 3691C>G ESCA-CN X 53223545 53223545 single base substitution G C missense_variant L1271V 3811C>G ESCA-CN X 53223545 53223545 single base substitution G C missense_variant L1272V 3814C>G ESCA-CN X 53243987 53243987 single base substitution C T downstream_gene_variant ESCA-CN X 53243987 53243987 single base substitution C T missense_variant D269N 805G>A ESCA-CN X 53243987 53243987 single base substitution C T missense_variant D295N 883G>A ESCA-CN X 53243987 53243987 single base substitution C T missense_variant D335N 1003G>A ESCA-CN X 53243987 53243987 single base substitution C T missense_variant D336N 1006G>A ESCA-CN X 53243987 53243987 single base substitution C T upstream_gene_variant GBM-US X 53223866 53223866 single base substitution G A downstream_gene_variant GBM-US X 53223866 53223866 single base substitution G A missense_variant R1098C 3292C>T GBM-US X 53223866 53223866 single base substitution G A missense_variant R1124C 3370C>T GBM-US X 53223866 53223866 single base substitution G A missense_variant R1164C 3490C>T GBM-US X 53223866 53223866 single base substitution G A missense_variant R1165C 3493C>T GBM-US X 53230914 53230914 single base substitution G A exon_variant GBM-US X 53230914 53230914 single base substitution G A missense_variant R560C 1678C>T GBM-US X 53230914 53230914 single base substitution G A missense_variant R586C 1756C>T GBM-US X 53230914 53230914 single base substitution G A missense_variant R626C 1876C>T GBM-US X 53230914 53230914 single base substitution G A missense_variant R627C 1879C>T GBM-US X 53230914 53230914 single base substitution G A upstream_gene_variant KIRC-US X 53222460 53222460 single base substitution G A downstream_gene_variant KIRC-US X 53222460 53222460 single base substitution G A intron_variant KIRC-US X 53222460 53222460 single base substitution G A missense_variant R1414W 4240C>T KIRC-US X 53222460 53222460 single base substitution G A missense_variant R1455W 4363C>T KIRC-US X 53222460 53222460 single base substitution G A missense_variant R1457W 4369C>T KIRC-US X 53222460 53222460 single base substitution G A missense_variant R1458W 4372C>T KIRC-US X 53223905 53223905 single base substitution C T downstream_gene_variant KIRC-US X 53223905 53223905 single base substitution C T missense_variant E1085K 3253G>A KIRC-US X 53223905 53223905 single base substitution C T missense_variant E1111K 3331G>A KIRC-US X 53223905 53223905 single base substitution C T missense_variant E1151K 3451G>A KIRC-US X 53223905 53223905 single base substitution C T missense_variant E1152K 3454G>A KIRC-US X 53224222 53224222 single base substitution G C downstream_gene_variant KIRC-US X 53224222 53224222 single base substitution G C stop_gained S1043* 3128C>G KIRC-US X 53224222 53224222 single base substitution G C stop_gained S1069* 3206C>G KIRC-US X 53224222 53224222 single base substitution G C stop_gained S1109* 3326C>G KIRC-US X 53224222 53224222 single base substitution G C stop_gained S1110* 3329C>G KIRC-US X 53227751 53227751 single base substitution G A downstream_gene_variant KIRC-US X 53227751 53227751 single base substitution G A exon_variant KIRC-US X 53227751 53227751 single base substitution G A stop_gained Q746* 2236C>T KIRC-US X 53227751 53227751 single base substitution G A stop_gained Q772* 2314C>T KIRC-US X 53227751 53227751 single base substitution G A stop_gained Q812* 2434C>T KIRC-US X 53227751 53227751 single base substitution G A stop_gained Q813* 2437C>T KIRC-US X 53227751 53227751 single base substitution G A upstream_gene_variant KIRC-US X 53228204 53228204 single base substitution T G downstream_gene_variant KIRC-US X 53228204 53228204 single base substitution T G exon_variant KIRC-US X 53228204 53228204 single base substitution T G missense_variant H666P 1997A>C KIRC-US X 53228204 53228204 single base substitution T G missense_variant H692P 2075A>C KIRC-US X 53228204 53228204 single base substitution T G missense_variant H732P 2195A>C KIRC-US X 53228204 53228204 single base substitution T G missense_variant H733P 2198A>C KIRC-US X 53228204 53228204 single base substitution T G upstream_gene_variant KIRC-US X 53228213 53228213 single base substitution C A downstream_gene_variant KIRC-US X 53228213 53228213 single base substitution C A exon_variant KIRC-US X 53228213 53228213 single base substitution C A missense_variant C663F 1988G>T KIRC-US X 53228213 53228213 single base substitution C A missense_variant C689F 2066G>T KIRC-US X 53228213 53228213 single base substitution C A missense_variant C729F 2186G>T KIRC-US X 53228213 53228213 single base substitution C A missense_variant C730F 2189G>T KIRC-US X 53228213 53228213 single base substitution C A upstream_gene_variant KIRC-US X 53228214 53228214 single base substitution A G downstream_gene_variant KIRC-US X 53228214 53228214 single base substitution A G exon_variant KIRC-US X 53228214 53228214 single base substitution A G missense_variant C663R 1987T>C KIRC-US X 53228214 53228214 single base substitution A G missense_variant C689R 2065T>C KIRC-US X 53228214 53228214 single base substitution A G missense_variant C729R 2185T>C KIRC-US X 53228214 53228214 single base substitution A G missense_variant C730R 2188T>C KIRC-US X 53228214 53228214 single base substitution A G upstream_gene_variant KIRC-US X 53228259 53228259 single base substitution A C downstream_gene_variant KIRC-US X 53228259 53228259 single base substitution A C exon_variant KIRC-US X 53228259 53228259 single base substitution A C missense_variant F648V 1942T>G KIRC-US X 53228259 53228259 single base substitution A C missense_variant F674V 2020T>G KIRC-US X 53228259 53228259 single base substitution A C missense_variant F714V 2140T>G KIRC-US X 53228259 53228259 single base substitution A C missense_variant F715V 2143T>G KIRC-US X 53228259 53228259 single base substitution A C upstream_gene_variant KIRC-US X 53230752 53230752 single base substitution G A exon_variant KIRC-US X 53230752 53230752 single base substitution G A stop_gained R614* 1840C>T KIRC-US X 53230752 53230752 single base substitution G A stop_gained R640* 1918C>T KIRC-US X 53230752 53230752 single base substitution G A stop_gained R680* 2038C>T KIRC-US X 53230752 53230752 single base substitution G A stop_gained R681* 2041C>T KIRC-US X 53230752 53230752 single base substitution G A upstream_gene_variant KIRC-US X 53231127 53231127 single base substitution T A exon_variant KIRC-US X 53231127 53231127 single base substitution T A missense_variant E525V 1574A>T KIRC-US X 53231127 53231127 single base substitution T A missense_variant E551V 1652A>T KIRC-US X 53231127 53231127 single base substitution T A missense_variant E591V 1772A>T KIRC-US X 53231127 53231127 single base substitution T A missense_variant E592V 1775A>T KIRC-US X 53231127 53231127 single base substitution T A upstream_gene_variant KIRC-US X 53239736 53239736 single base substitution C A exon_variant KIRC-US X 53239736 53239736 single base substitution C A missense_variant G469W 1405G>T KIRC-US X 53239736 53239736 single base substitution C A missense_variant G495W 1483G>T KIRC-US X 53239736 53239736 single base substitution C A missense_variant G535W 1603G>T KIRC-US X 53239736 53239736 single base substitution C A missense_variant G536W 1606G>T KIRC-US X 53239736 53239736 single base substitution C A upstream_gene_variant KIRC-US X 53239905 53239905 single base substitution G C downstream_gene_variant KIRC-US X 53239905 53239905 single base substitution G C exon_variant KIRC-US X 53239905 53239905 single base substitution G C missense_variant C445W 1335C>G KIRC-US X 53239905 53239905 single base substitution G C missense_variant C471W 1413C>G KIRC-US X 53239905 53239905 single base substitution G C missense_variant C511W 1533C>G KIRC-US X 53239905 53239905 single base substitution G C missense_variant C512W 1536C>G KIRC-US X 53239905 53239905 single base substitution G C upstream_gene_variant KIRC-US X 53245090 53245090 single base substitution C A downstream_gene_variant KIRC-US X 53245090 53245090 single base substitution C A exon_variant KIRC-US X 53245090 53245090 single base substitution C A stop_gained E217* 649G>T KIRC-US X 53245090 53245090 single base substitution C A stop_gained E243* 727G>T KIRC-US X 53245090 53245090 single base substitution C A stop_gained E283* 847G>T KIRC-US X 53245090 53245090 single base substitution C A stop_gained E284* 850G>T KIRC-US X 53245090 53245090 single base substitution C A upstream_gene_variant KIRC-US X 53253992 53253992 deletion of <=200bp G - exon_variant KIRC-US X 53253992 53253992 deletion of <=200bp G - frameshift_variant P27 KIRC-US X 53253992 53253992 deletion of <=200bp G - upstream_gene_variant KIRP-US X 53245084 53245084 single base substitution T C downstream_gene_variant KIRP-US X 53245084 53245084 single base substitution T C exon_variant KIRP-US X 53245084 53245084 single base substitution T C missense_variant T219A 655A>G KIRP-US X 53245084 53245084 single base substitution T C missense_variant T245A 733A>G KIRP-US X 53245084 53245084 single base substitution T C missense_variant T285A 853A>G KIRP-US X 53245084 53245084 single base substitution T C missense_variant T286A 856A>G KIRP-US X 53245084 53245084 single base substitution T C upstream_gene_variant LAML-CN X 53222245 53222245 single base substitution C T downstream_gene_variant LAML-CN X 53222245 53222245 single base substitution C T intron_variant LAML-CN X 53222245 53222245 single base substitution C T synonymous_variant A1485A 4455G>A LAML-CN X 53222245 53222245 single base substitution C T synonymous_variant A1526A 4578G>A LAML-CN X 53222245 53222245 single base substitution C T synonymous_variant A1528A 4584G>A LAML-CN X 53222245 53222245 single base substitution C T synonymous_variant A1529A 4587G>A LICA-CN X 53245299 53245299 single base substitution C A downstream_gene_variant LICA-CN X 53245299 53245299 single base substitution C A exon_variant LICA-CN X 53245299 53245299 single base substitution C A missense_variant M179I 537G>T LICA-CN X 53245299 53245299 single base substitution C A missense_variant M205I 615G>T LICA-CN X 53245299 53245299 single base substitution C A missense_variant M245I 735G>T LICA-CN X 53245299 53245299 single base substitution C A missense_variant M246I 738G>T LICA-CN X 53245299 53245299 single base substitution C A upstream_gene_variant LICA-FR X 53222686 53222686 single base substitution T C downstream_gene_variant LICA-FR X 53222686 53222686 single base substitution T C missense_variant H1347R 4040A>G LICA-FR X 53222686 53222686 single base substitution T C missense_variant H1373R 4118A>G LICA-FR X 53222686 53222686 single base substitution T C missense_variant H1414R 4241A>G LICA-FR X 53222686 53222686 single base substitution T C missense_variant H1416R 4247A>G LICA-FR X 53222686 53222686 single base substitution T C missense_variant H1417R 4250A>G LICA-FR X 53224587 53224587 insertion of <=200bp - ACCATTCTA downstream_gene_variant LICA-FR X 53224587 53224587 insertion of <=200bp - ACCATTCTA stop_gained G1001G*NG LICA-FR X 53224587 53224587 insertion of <=200bp - ACCATTCTA stop_gained G1041G*NG LICA-FR X 53224587 53224587 insertion of <=200bp - ACCATTCTA stop_gained G1042G*NG LICA-FR X 53224587 53224587 insertion of <=200bp - ACCATTCTA stop_gained G975G*NG LICA-FR X 53226114 53226114 single base substitution C T downstream_gene_variant LICA-FR X 53226114 53226114 single base substitution C T missense_variant G845E 2534G>A LICA-FR X 53226114 53226114 single base substitution C T missense_variant G871E 2612G>A LICA-FR X 53226114 53226114 single base substitution C T missense_variant G911E 2732G>A LICA-FR X 53226114 53226114 single base substitution C T missense_variant G912E 2735G>A LICA-FR X 53256769 53256769 single base substitution G A upstream_gene_variant LIHC-US X 53228047 53228047 single base substitution A T downstream_gene_variant LIHC-US X 53228047 53228047 single base substitution A T exon_variant LIHC-US X 53228047 53228047 single base substitution A T missense_variant L689H 2066T>A LIHC-US X 53228047 53228047 single base substitution A T missense_variant L715H 2144T>A LIHC-US X 53228047 53228047 single base substitution A T missense_variant L755H 2264T>A LIHC-US X 53228047 53228047 single base substitution A T missense_variant L756H 2267T>A LIHC-US X 53228047 53228047 single base substitution A T upstream_gene_variant LIHC-US X 53246991 53246991 single base substitution C A downstream_gene_variant LIHC-US X 53246991 53246991 single base substitution C A missense_variant G103V 308G>T LIHC-US X 53246991 53246991 single base substitution C A missense_variant G129V 386G>T LIHC-US X 53246991 53246991 single base substitution C A missense_variant G170V 509G>T LIHC-US X 53246991 53246991 single base substitution C A upstream_gene_variant LINC-JP X 53217291 53217291 single base substitution G A downstream_gene_variant LINC-JP X 53223491 53223491 single base substitution C A downstream_gene_variant LINC-JP X 53223491 53223491 single base substitution C A missense_variant G1223C 3667G>T LINC-JP X 53223491 53223491 single base substitution C A missense_variant G1249C 3745G>T LINC-JP X 53223491 53223491 single base substitution C A missense_variant G1289C 3865G>T LINC-JP X 53223491 53223491 single base substitution C A missense_variant G1290C 3868G>T LINC-JP X 53224553 53224553 single base substitution G T downstream_gene_variant LINC-JP X 53224553 53224553 single base substitution G T missense_variant L1013I 3037C>A LINC-JP X 53224553 53224553 single base substitution G T missense_variant L1053I 3157C>A LINC-JP X 53224553 53224553 single base substitution G T missense_variant L1054I 3160C>A LINC-JP X 53224553 53224553 single base substitution G T missense_variant L987I 2959C>A LINC-JP X 53224979 53224979 single base substitution T A downstream_gene_variant LINC-JP X 53224979 53224979 single base substitution T A intron_variant LINC-JP X 53231041 53231041 single base substitution C A exon_variant LINC-JP X 53231041 53231041 single base substitution C A missense_variant D554Y 1660G>T LINC-JP X 53231041 53231041 single base substitution C A missense_variant D580Y 1738G>T LINC-JP X 53231041 53231041 single base substitution C A missense_variant D620Y 1858G>T LINC-JP X 53231041 53231041 single base substitution C A missense_variant D621Y 1861G>T LINC-JP X 53231041 53231041 single base substitution C A upstream_gene_variant LINC-JP X 53234566 53234566 single base substitution C A intron_variant LINC-JP X 53234566 53234566 single base substitution C A upstream_gene_variant LINC-JP X 53239527 53239527 single base substitution C G intron_variant LIRI-JP X 53217351 53217351 single base substitution G A downstream_gene_variant LIRI-JP X 53217618 53217618 single base substitution C T downstream_gene_variant LIRI-JP X 53219432 53219432 single base substitution G T downstream_gene_variant LIRI-JP X 53219468 53219468 single base substitution C T downstream_gene_variant LIRI-JP X 53221587 53221587 single base substitution C A 3_prime_UTR_variant LIRI-JP X 53221587 53221587 single base substitution C A downstream_gene_variant LIRI-JP X 53224386 53224386 single base substitution G A downstream_gene_variant LIRI-JP X 53224386 53224386 single base substitution G A intron_variant LIRI-JP X 53226116 53226116 single base substitution C G downstream_gene_variant LIRI-JP X 53226116 53226116 single base substitution C G synonymous_variant L844L 2532G>C LIRI-JP X 53226116 53226116 single base substitution C G synonymous_variant L870L 2610G>C LIRI-JP X 53226116 53226116 single base substitution C G synonymous_variant L910L 2730G>C LIRI-JP X 53226116 53226116 single base substitution C G synonymous_variant L911L 2733G>C LIRI-JP X 53229195 53229195 single base substitution G T downstream_gene_variant LIRI-JP X 53229195 53229195 single base substitution G T intron_variant LIRI-JP X 53229195 53229195 single base substitution G T upstream_gene_variant LIRI-JP X 53234535 53234535 single base substitution T C intron_variant LIRI-JP X 53234535 53234535 single base substitution T C upstream_gene_variant LIRI-JP X 53244421 53244421 single base substitution G A downstream_gene_variant LIRI-JP X 53244421 53244421 single base substitution G A intron_variant LIRI-JP X 53244421 53244421 single base substitution G A upstream_gene_variant LIRI-JP X 53244744 53244744 single base substitution G A downstream_gene_variant LIRI-JP X 53244744 53244744 single base substitution G A intron_variant LIRI-JP X 53244744 53244744 single base substitution G A upstream_gene_variant LIRI-JP X 53247859 53247859 single base substitution G A downstream_gene_variant LIRI-JP X 53247859 53247859 single base substitution G A exon_variant LIRI-JP X 53247859 53247859 single base substitution G A intron_variant LIRI-JP X 53247859 53247859 single base substitution G A upstream_gene_variant LIRI-JP X 53250692 53250692 single base substitution A G downstream_gene_variant LIRI-JP X 53250692 53250692 single base substitution A G intron_variant LIRI-JP X 53250692 53250692 single base substitution A G upstream_gene_variant LIRI-JP X 53250793 53250793 single base substitution T C downstream_gene_variant LIRI-JP X 53250793 53250793 single base substitution T C intron_variant LIRI-JP X 53250793 53250793 single base substitution T C upstream_gene_variant LIRI-JP X 53251001 53251001 single base substitution T G intron_variant LIRI-JP X 53251001 53251001 single base substitution T G upstream_gene_variant LIRI-JP X 53254948 53254948 single base substitution T A upstream_gene_variant LIRI-JP X 53256771 53256771 single base substitution C T upstream_gene_variant LUSC-KR X 53215558 53215558 single base substitution A G downstream_gene_variant LUSC-KR X 53228509 53228509 single base substitution C A downstream_gene_variant LUSC-KR X 53228509 53228509 single base substitution C A intron_variant LUSC-KR X 53228509 53228509 single base substitution C A upstream_gene_variant LUSC-KR X 53233273 53233273 single base substitution G C intron_variant LUSC-KR X 53233273 53233273 single base substitution G C upstream_gene_variant LUSC-KR X 53238568 53238568 single base substitution C A intron_variant LUSC-KR X 53250150 53250150 single base substitution G C downstream_gene_variant LUSC-KR X 53250150 53250150 single base substitution G C intron_variant LUSC-KR X 53250150 53250150 single base substitution G C upstream_gene_variant LUSC-US X 53228048 53228048 single base substitution G T downstream_gene_variant LUSC-US X 53228048 53228048 single base substitution G T exon_variant LUSC-US X 53228048 53228048 single base substitution G T missense_variant L689I 2065C>A LUSC-US X 53228048 53228048 single base substitution G T missense_variant L715I 2143C>A LUSC-US X 53228048 53228048 single base substitution G T missense_variant L755I 2263C>A LUSC-US X 53228048 53228048 single base substitution G T missense_variant L756I 2266C>A LUSC-US X 53228048 53228048 single base substitution G T upstream_gene_variant LUSC-US X 53230856 53230856 single base substitution T A exon_variant LUSC-US X 53230856 53230856 single base substitution T A missense_variant E579V 1736A>T LUSC-US X 53230856 53230856 single base substitution T A missense_variant E605V 1814A>T LUSC-US X 53230856 53230856 single base substitution T A missense_variant E645V 1934A>T LUSC-US X 53230856 53230856 single base substitution T A missense_variant E646V 1937A>T LUSC-US X 53230856 53230856 single base substitution T A upstream_gene_variant LUSC-US X 53231062 53231062 single base substitution C A exon_variant LUSC-US X 53231062 53231062 single base substitution C A missense_variant A547S 1639G>T LUSC-US X 53231062 53231062 single base substitution C A missense_variant A573S 1717G>T LUSC-US X 53231062 53231062 single base substitution C A missense_variant A613S 1837G>T LUSC-US X 53231062 53231062 single base substitution C A missense_variant A614S 1840G>T LUSC-US X 53231062 53231062 single base substitution C A upstream_gene_variant LUSC-US X 53241055 53241055 single base substitution C G downstream_gene_variant LUSC-US X 53241055 53241055 single base substitution C G missense_variant E319Q 955G>C LUSC-US X 53241055 53241055 single base substitution C G missense_variant E345Q 1033G>C LUSC-US X 53241055 53241055 single base substitution C G missense_variant E385Q 1153G>C LUSC-US X 53241055 53241055 single base substitution C G missense_variant E386Q 1156G>C LUSC-US X 53241055 53241055 single base substitution C G upstream_gene_variant LUSC-US X 53246997 53246997 single base substitution T A 3_prime_UTR_variant LUSC-US X 53246997 53246997 single base substitution T A downstream_gene_variant LUSC-US X 53246997 53246997 single base substitution T A missense_variant Q101L 302A>T LUSC-US X 53246997 53246997 single base substitution T A missense_variant Q127L 380A>T LUSC-US X 53246997 53246997 single base substitution T A missense_variant Q168L 503A>T LUSC-US X 53246997 53246997 single base substitution T A upstream_gene_variant LUSC-US X 53250047 53250047 single base substitution G T 3_prime_UTR_variant LUSC-US X 53250047 53250047 single base substitution G T downstream_gene_variant LUSC-US X 53250047 53250047 single base substitution G T exon_variant LUSC-US X 53250047 53250047 single base substitution G T intron_variant LUSC-US X 53250047 53250047 single base substitution G T synonymous_variant R68R 202C>A LUSC-US X 53250047 53250047 single base substitution G T upstream_gene_variant MALY-DE X 53226128 53226128 single base substitution C T downstream_gene_variant MALY-DE X 53226128 53226128 single base substitution C T synonymous_variant R840R 2520G>A MALY-DE X 53226128 53226128 single base substitution C T synonymous_variant R866R 2598G>A MALY-DE X 53226128 53226128 single base substitution C T synonymous_variant R906R 2718G>A MALY-DE X 53226128 53226128 single base substitution C T synonymous_variant R907R 2721G>A MALY-DE X 53231354 53231354 single base substitution G A exon_variant MALY-DE X 53231354 53231354 single base substitution G A intron_variant MALY-DE X 53231354 53231354 single base substitution G A upstream_gene_variant MALY-DE X 53231810 53231810 single base substitution C T exon_variant MALY-DE X 53231810 53231810 single base substitution C T intron_variant MALY-DE X 53231810 53231810 single base substitution C T upstream_gene_variant MALY-DE X 53238680 53238680 single base substitution T A intron_variant MALY-DE X 53241064 53241064 single base substitution A G downstream_gene_variant MALY-DE X 53241064 53241064 single base substitution A G missense_variant F316L 946T>C MALY-DE X 53241064 53241064 single base substitution A G missense_variant F342L 1024T>C MALY-DE X 53241064 53241064 single base substitution A G missense_variant F382L 1144T>C MALY-DE X 53241064 53241064 single base substitution A G missense_variant F383L 1147T>C MALY-DE X 53241064 53241064 single base substitution A G upstream_gene_variant MALY-DE X 53251498 53251498 single base substitution C A intron_variant MALY-DE X 53251498 53251498 single base substitution C A upstream_gene_variant MELA-AU X 53215864 53215864 single base substitution G A downstream_gene_variant MELA-AU X 53216571 53216571 single base substitution G A downstream_gene_variant MELA-AU X 53216653 53216653 insertion of <=200bp - GAGTT downstream_gene_variant MELA-AU X 53216760 53216760 single base substitution G A downstream_gene_variant MELA-AU X 53216962 53216962 single base substitution G A downstream_gene_variant MELA-AU X 53217208 53217208 single base substitution G A downstream_gene_variant MELA-AU X 53217606 53217606 single base substitution G A downstream_gene_variant MELA-AU X 53217753 53217753 single base substitution C T downstream_gene_variant MELA-AU X 53217933 53217934 deletion of <=200bp TA - downstream_gene_variant MELA-AU X 53218547 53218547 single base substitution G A downstream_gene_variant MELA-AU X 53219790 53219790 single base substitution G A downstream_gene_variant MELA-AU X 53220121 53220121 single base substitution G A downstream_gene_variant MELA-AU X 53220579 53220579 single base substitution G A 3_prime_UTR_variant MELA-AU X 53220579 53220579 single base substitution G A downstream_gene_variant MELA-AU X 53221538 53221538 single base substitution G A 3_prime_UTR_variant MELA-AU X 53221538 53221538 single base substitution G A downstream_gene_variant MELA-AU X 53221716 53221716 single base substitution G A 3_prime_UTR_variant MELA-AU X 53221716 53221716 single base substitution G A downstream_gene_variant MELA-AU X 53222035 53222035 single base substitution G A 3_prime_UTR_variant MELA-AU X 53222035 53222035 single base substitution G A downstream_gene_variant MELA-AU X 53222035 53222035 single base substitution G A intron_variant MELA-AU X 53222259 53222259 single base substitution C T downstream_gene_variant MELA-AU X 53222259 53222259 single base substitution C T intron_variant MELA-AU X 53222259 53222259 single base substitution C T missense_variant G1481S 4441G>A MELA-AU X 53222259 53222259 single base substitution C T missense_variant G1522S 4564G>A MELA-AU X 53222259 53222259 single base substitution C T missense_variant G1524S 4570G>A MELA-AU X 53222259 53222259 single base substitution C T missense_variant G1525S 4573G>A MELA-AU X 53223134 53223134 single base substitution G A downstream_gene_variant MELA-AU X 53223134 53223134 single base substitution G A intron_variant MELA-AU X 53224202 53224223 deletion of <=200bp GGCTGCGCTTGGTGCTGTCTGA - downstream_gene_variant MELA-AU X 53224202 53224223 deletion of <=200bp GGCTGCGCTTGGTGCTGTCTGA - frameshift_variant SDSTKRSR1043 MELA-AU X 53224202 53224223 deletion of <=200bp GGCTGCGCTTGGTGCTGTCTGA - frameshift_variant SDSTKRSR1069 MELA-AU X 53224202 53224223 deletion of <=200bp GGCTGCGCTTGGTGCTGTCTGA - frameshift_variant SDSTKRSR1109 MELA-AU X 53224202 53224223 deletion of <=200bp GGCTGCGCTTGGTGCTGTCTGA - frameshift_variant SDSTKRSR1110 MELA-AU X 53224446 53224446 single base substitution G A downstream_gene_variant MELA-AU X 53224446 53224446 single base substitution G A synonymous_variant F1022F 3066C>T MELA-AU X 53224446 53224446 single base substitution G A synonymous_variant F1048F 3144C>T MELA-AU X 53224446 53224446 single base substitution G A synonymous_variant F1088F 3264C>T MELA-AU X 53224446 53224446 single base substitution G A synonymous_variant F1089F 3267C>T MELA-AU X 53226812 53226812 single base substitution C T downstream_gene_variant MELA-AU X 53226812 53226812 single base substitution C T intron_variant MELA-AU X 53226881 53226881 single base substitution G A downstream_gene_variant MELA-AU X 53226881 53226881 single base substitution G A exon_variant MELA-AU X 53226881 53226881 single base substitution G A intron_variant MELA-AU X 53229766 53229766 single base substitution G A downstream_gene_variant MELA-AU X 53229766 53229766 single base substitution G A intron_variant MELA-AU X 53229766 53229766 single base substitution G A upstream_gene_variant MELA-AU X 53229888 53229888 single base substitution G A downstream_gene_variant MELA-AU X 53229888 53229888 single base substitution G A intron_variant MELA-AU X 53229888 53229888 single base substitution G A upstream_gene_variant MELA-AU X 53232465 53232465 single base substitution T G intron_variant MELA-AU X 53232465 53232465 single base substitution T G upstream_gene_variant MELA-AU X 53233627 53233627 single base substitution G A intron_variant MELA-AU X 53233627 53233627 single base substitution G A upstream_gene_variant MELA-AU X 53233840 53233840 single base substitution G A intron_variant MELA-AU X 53233840 53233840 single base substitution G A upstream_gene_variant MELA-AU X 53237057 53237057 single base substitution G A intron_variant MELA-AU X 53237095 53237095 single base substitution G A intron_variant MELA-AU X 53237509 53237509 single base substitution G A intron_variant MELA-AU X 53238859 53238859 single base substitution G A intron_variant MELA-AU X 53238990 53238990 single base substitution G A intron_variant MELA-AU X 53240244 53240244 single base substitution G A downstream_gene_variant MELA-AU X 53240244 53240244 single base substitution G A intron_variant MELA-AU X 53240244 53240244 single base substitution G A upstream_gene_variant MELA-AU X 53241375 53241375 single base substitution G A downstream_gene_variant MELA-AU X 53241375 53241375 single base substitution G A intron_variant MELA-AU X 53241375 53241375 single base substitution G A upstream_gene_variant MELA-AU X 53243186 53243186 single base substitution G A downstream_gene_variant MELA-AU X 53243186 53243186 single base substitution G A intron_variant MELA-AU X 53243186 53243186 single base substitution G A upstream_gene_variant MELA-AU X 53243378 53243378 single base substitution G A downstream_gene_variant MELA-AU X 53243378 53243378 single base substitution G A intron_variant MELA-AU X 53243378 53243378 single base substitution G A upstream_gene_variant MELA-AU X 53243945 53243945 single base substitution G T downstream_gene_variant MELA-AU X 53243945 53243945 single base substitution G T missense_variant H283N 847C>A MELA-AU X 53243945 53243945 single base substitution G T missense_variant H309N 925C>A MELA-AU X 53243945 53243945 single base substitution G T missense_variant H349N 1045C>A MELA-AU X 53243945 53243945 single base substitution G T missense_variant H350N 1048C>A MELA-AU X 53243945 53243945 single base substitution G T upstream_gene_variant MELA-AU X 53244103 53244103 single base substitution G A downstream_gene_variant MELA-AU X 53244103 53244103 single base substitution G A intron_variant MELA-AU X 53244103 53244103 single base substitution G A upstream_gene_variant MELA-AU X 53244591 53244592 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU X 53244591 53244592 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 53244591 53244592 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU X 53245442 53245442 single base substitution G A downstream_gene_variant MELA-AU X 53245442 53245442 single base substitution G A intron_variant MELA-AU X 53245442 53245442 single base substitution G A upstream_gene_variant MELA-AU X 53245950 53245950 single base substitution G A downstream_gene_variant MELA-AU X 53245950 53245950 single base substitution G A intron_variant MELA-AU X 53246239 53246240 multiple base substitution (>=2bp and <=200bp) GG TA downstream_gene_variant MELA-AU X 53246239 53246240 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU X 53246465 53246465 single base substitution G A downstream_gene_variant MELA-AU X 53246465 53246465 single base substitution G A intron_variant MELA-AU X 53246465 53246465 single base substitution G A splice_region_variant MELA-AU X 53246465 53246465 single base substitution G A upstream_gene_variant MELA-AU X 53246482 53246482 single base substitution G A downstream_gene_variant MELA-AU X 53246482 53246482 single base substitution G A intron_variant MELA-AU X 53246482 53246482 single base substitution G A upstream_gene_variant MELA-AU X 53247204 53247204 single base substitution G A downstream_gene_variant MELA-AU X 53247204 53247204 single base substitution G A intron_variant MELA-AU X 53247204 53247204 single base substitution G A upstream_gene_variant MELA-AU X 53247230 53247230 single base substitution G A downstream_gene_variant MELA-AU X 53247230 53247230 single base substitution G A intron_variant MELA-AU X 53247230 53247230 single base substitution G A upstream_gene_variant MELA-AU X 53247390 53247390 single base substitution G A downstream_gene_variant MELA-AU X 53247390 53247390 single base substitution G A intron_variant MELA-AU X 53247390 53247390 single base substitution G A upstream_gene_variant MELA-AU X 53247493 53247493 single base substitution C A 3_prime_UTR_variant MELA-AU X 53247493 53247493 single base substitution C A downstream_gene_variant MELA-AU X 53247493 53247493 single base substitution C A exon_variant MELA-AU X 53247493 53247493 single base substitution C A intron_variant MELA-AU X 53247493 53247493 single base substitution C A stop_gained E106* 316G>T MELA-AU X 53247493 53247493 single base substitution C A upstream_gene_variant MELA-AU X 53248226 53248226 single base substitution G A downstream_gene_variant MELA-AU X 53248226 53248226 single base substitution G A intron_variant MELA-AU X 53248226 53248226 single base substitution G A upstream_gene_variant MELA-AU X 53248901 53248901 single base substitution C T downstream_gene_variant MELA-AU X 53248901 53248901 single base substitution C T intron_variant MELA-AU X 53248901 53248901 single base substitution C T upstream_gene_variant MELA-AU X 53249287 53249287 single base substitution T A downstream_gene_variant MELA-AU X 53249287 53249287 single base substitution T A intron_variant MELA-AU X 53249287 53249287 single base substitution T A upstream_gene_variant MELA-AU X 53249355 53249355 single base substitution G A downstream_gene_variant MELA-AU X 53249355 53249355 single base substitution G A intron_variant MELA-AU X 53249355 53249355 single base substitution G A upstream_gene_variant MELA-AU X 53249743 53249743 single base substitution G A downstream_gene_variant MELA-AU X 53249743 53249743 single base substitution G A intron_variant MELA-AU X 53249743 53249743 single base substitution G A upstream_gene_variant MELA-AU X 53250369 53250369 single base substitution G A downstream_gene_variant MELA-AU X 53250369 53250369 single base substitution G A intron_variant MELA-AU X 53250369 53250369 single base substitution G A upstream_gene_variant MELA-AU X 53250446 53250446 single base substitution C T downstream_gene_variant MELA-AU X 53250446 53250446 single base substitution C T intron_variant MELA-AU X 53250446 53250446 single base substitution C T upstream_gene_variant MELA-AU X 53250474 53250474 single base substitution G A downstream_gene_variant MELA-AU X 53250474 53250474 single base substitution G A intron_variant MELA-AU X 53250474 53250474 single base substitution G A upstream_gene_variant MELA-AU X 53252567 53252567 single base substitution G A intron_variant MELA-AU X 53252567 53252567 single base substitution G A upstream_gene_variant MELA-AU X 53252953 53252953 single base substitution C T intron_variant MELA-AU X 53252953 53252953 single base substitution C T upstream_gene_variant MELA-AU X 53253188 53253188 single base substitution C T intron_variant MELA-AU X 53253188 53253188 single base substitution C T upstream_gene_variant MELA-AU X 53254089 53254089 single base substitution G A 5_prime_UTR_variant MELA-AU X 53254089 53254089 single base substitution G A upstream_gene_variant MELA-AU X 53254639 53254639 single base substitution G A upstream_gene_variant MELA-AU X 53254640 53254640 single base substitution G A upstream_gene_variant MELA-AU X 53254686 53254686 single base substitution G A upstream_gene_variant MELA-AU X 53254694 53254694 single base substitution G A upstream_gene_variant MELA-AU X 53254697 53254697 single base substitution G A upstream_gene_variant MELA-AU X 53255621 53255621 single base substitution C T upstream_gene_variant MELA-AU X 53256555 53256555 single base substitution C T upstream_gene_variant MELA-AU X 53256641 53256641 single base substitution G A upstream_gene_variant MELA-AU X 53256683 53256683 single base substitution G A upstream_gene_variant MELA-AU X 53256793 53256793 single base substitution G A upstream_gene_variant MELA-AU X 53257016 53257016 single base substitution C T upstream_gene_variant MELA-AU X 53257104 53257104 single base substitution C T upstream_gene_variant MELA-AU X 53258013 53258013 single base substitution G A upstream_gene_variant MELA-AU X 53258253 53258253 single base substitution C T upstream_gene_variant MELA-AU X 53258375 53258375 single base substitution G A upstream_gene_variant MELA-AU X 53258394 53258394 single base substitution G A upstream_gene_variant MELA-AU X 53258524 53258524 single base substitution G A upstream_gene_variant MELA-AU X 53258913 53258913 single base substitution G A upstream_gene_variant ORCA-IN X 53222284 53222284 single base substitution G T downstream_gene_variant ORCA-IN X 53222284 53222284 single base substitution G T intron_variant ORCA-IN X 53222284 53222284 single base substitution G T missense_variant S1472R 4416C>A ORCA-IN X 53222284 53222284 single base substitution G T missense_variant S1513R 4539C>A ORCA-IN X 53222284 53222284 single base substitution G T missense_variant S1515R 4545C>A ORCA-IN X 53222284 53222284 single base substitution G T missense_variant S1516R 4548C>A ORCA-IN X 53247515 53247515 single base substitution G A 3_prime_UTR_variant ORCA-IN X 53247515 53247515 single base substitution G A downstream_gene_variant ORCA-IN X 53247515 53247515 single base substitution G A exon_variant ORCA-IN X 53247515 53247515 single base substitution G A intron_variant ORCA-IN X 53247515 53247515 single base substitution G A synonymous_variant S98S 294C>T ORCA-IN X 53247515 53247515 single base substitution G A upstream_gene_variant OV-AU X 53219853 53219853 single base substitution T C downstream_gene_variant OV-AU X 53232022 53232022 single base substitution C T intron_variant OV-AU X 53232022 53232022 single base substitution C T upstream_gene_variant OV-AU X 53234273 53234273 single base substitution T A intron_variant OV-AU X 53234273 53234273 single base substitution T A upstream_gene_variant OV-AU X 53235665 53235665 single base substitution A G intron_variant OV-AU X 53235665 53235665 single base substitution A G upstream_gene_variant OV-AU X 53249974 53249974 single base substitution C T downstream_gene_variant OV-AU X 53249974 53249974 single base substitution C T intron_variant OV-AU X 53249974 53249974 single base substitution C T upstream_gene_variant OV-US X 53230865 53230865 single base substitution G A exon_variant OV-US X 53230865 53230865 single base substitution G A missense_variant S576F 1727C>T OV-US X 53230865 53230865 single base substitution G A missense_variant S602F 1805C>T OV-US X 53230865 53230865 single base substitution G A missense_variant S642F 1925C>T OV-US X 53230865 53230865 single base substitution G A missense_variant S643F 1928C>T OV-US X 53230865 53230865 single base substitution G A upstream_gene_variant PACA-AU X 53219090 53219090 single base substitution G A downstream_gene_variant PACA-AU X 53219646 53219646 single base substitution G A downstream_gene_variant PACA-AU X 53226043 53226043 single base substitution G A downstream_gene_variant PACA-AU X 53226043 53226043 single base substitution G A missense_variant R869C 2605C>T PACA-AU X 53226043 53226043 single base substitution G A missense_variant R895C 2683C>T PACA-AU X 53226043 53226043 single base substitution G A missense_variant R935C 2803C>T PACA-AU X 53226043 53226043 single base substitution G A missense_variant R936C 2806C>T PACA-AU X 53231934 53231934 deletion of <=200bp T - exon_variant PACA-AU X 53231934 53231934 deletion of <=200bp T - intron_variant PACA-AU X 53231934 53231934 deletion of <=200bp T - upstream_gene_variant PACA-AU X 53232429 53232429 single base substitution T C intron_variant PACA-AU X 53232429 53232429 single base substitution T C upstream_gene_variant PACA-AU X 53239720 53239720 single base substitution G A exon_variant PACA-AU X 53239720 53239720 single base substitution G A missense_variant A474V 1421C>T PACA-AU X 53239720 53239720 single base substitution G A missense_variant A500V 1499C>T PACA-AU X 53239720 53239720 single base substitution G A missense_variant A540V 1619C>T PACA-AU X 53239720 53239720 single base substitution G A missense_variant A541V 1622C>T PACA-AU X 53239741 53239741 single base substitution C A exon_variant PACA-AU X 53239741 53239741 single base substitution C A missense_variant W467L 1400G>T PACA-AU X 53239741 53239741 single base substitution C A missense_variant W493L 1478G>T PACA-AU X 53239741 53239741 single base substitution C A missense_variant W533L 1598G>T PACA-AU X 53239741 53239741 single base substitution C A missense_variant W534L 1601G>T PACA-AU X 53239741 53239741 single base substitution C A upstream_gene_variant PACA-AU X 53243316 53243316 single base substitution T C downstream_gene_variant PACA-AU X 53243316 53243316 single base substitution T C intron_variant PACA-AU X 53243316 53243316 single base substitution T C upstream_gene_variant PACA-AU X 53250047 53250047 single base substitution G A 3_prime_UTR_variant PACA-AU X 53250047 53250047 single base substitution G A downstream_gene_variant PACA-AU X 53250047 53250047 single base substitution G A exon_variant PACA-AU X 53250047 53250047 single base substitution G A intron_variant PACA-AU X 53250047 53250047 single base substitution G A stop_gained R68* 202C>T PACA-AU X 53250047 53250047 single base substitution G A upstream_gene_variant PACA-AU X 53250714 53250714 single base substitution C T downstream_gene_variant PACA-AU X 53250714 53250714 single base substitution C T intron_variant PACA-AU X 53250714 53250714 single base substitution C T upstream_gene_variant PACA-AU X 53254615 53254615 deletion of <=200bp G - upstream_gene_variant PACA-CA X 53217585 53217585 single base substitution T C downstream_gene_variant PACA-CA X 53222106 53222106 single base substitution C T 3_prime_UTR_variant PACA-CA X 53222106 53222106 single base substitution C T downstream_gene_variant PACA-CA X 53222106 53222106 single base substitution C T intron_variant PACA-CA X 53223975 53223975 single base substitution C G downstream_gene_variant PACA-CA X 53223975 53223975 single base substitution C G intron_variant PACA-CA X 53225904 53225904 single base substitution C T downstream_gene_variant PACA-CA X 53225904 53225904 single base substitution C T missense_variant R915H 2744G>A PACA-CA X 53225904 53225904 single base substitution C T missense_variant R941H 2822G>A PACA-CA X 53225904 53225904 single base substitution C T missense_variant R981H 2942G>A PACA-CA X 53225904 53225904 single base substitution C T missense_variant R982H 2945G>A PACA-CA X 53227679 53227679 single base substitution C T downstream_gene_variant PACA-CA X 53227679 53227679 single base substitution C T exon_variant PACA-CA X 53227679 53227679 single base substitution C T missense_variant E770K 2308G>A PACA-CA X 53227679 53227679 single base substitution C T missense_variant E796K 2386G>A PACA-CA X 53227679 53227679 single base substitution C T missense_variant E836K 2506G>A PACA-CA X 53227679 53227679 single base substitution C T missense_variant E837K 2509G>A PACA-CA X 53228551 53228551 single base substitution C T downstream_gene_variant PACA-CA X 53228551 53228551 single base substitution C T intron_variant PACA-CA X 53228551 53228551 single base substitution C T upstream_gene_variant PACA-CA X 53251629 53251629 single base substitution G A intron_variant PACA-CA X 53251629 53251629 single base substitution G A upstream_gene_variant PACA-CA X 53251885 53251885 deletion of <=200bp A - intron_variant PACA-CA X 53251885 53251885 deletion of <=200bp A - upstream_gene_variant PACA-CA X 53252234 53252234 single base substitution A G intron_variant PACA-CA X 53252234 53252234 single base substitution A G upstream_gene_variant PACA-CA X 53256769 53256769 single base substitution G T upstream_gene_variant PAEN-AU X 53253020 53253020 single base substitution A G intron_variant PAEN-AU X 53253020 53253020 single base substitution A G upstream_gene_variant PBCA-DE X 53224554 53224554 single base substitution G T downstream_gene_variant PBCA-DE X 53224554 53224554 single base substitution G T synonymous_variant G1012G 3036C>A PBCA-DE X 53224554 53224554 single base substitution G T synonymous_variant G1052G 3156C>A PBCA-DE X 53224554 53224554 single base substitution G T synonymous_variant G1053G 3159C>A PBCA-DE X 53224554 53224554 single base substitution G T synonymous_variant G986G 2958C>A PBCA-DE X 53230762 53230762 single base substitution C A exon_variant PBCA-DE X 53230762 53230762 single base substitution C A missense_variant E610D 1830G>T PBCA-DE X 53230762 53230762 single base substitution C A missense_variant E636D 1908G>T PBCA-DE X 53230762 53230762 single base substitution C A missense_variant E676D 2028G>T PBCA-DE X 53230762 53230762 single base substitution C A missense_variant E677D 2031G>T PBCA-DE X 53230762 53230762 single base substitution C A upstream_gene_variant PBCA-DE X 53241156 53241156 single base substitution C A downstream_gene_variant PBCA-DE X 53241156 53241156 single base substitution C A intron_variant PBCA-DE X 53241156 53241156 single base substitution C A upstream_gene_variant PBCA-DE X 53243142 53243142 insertion of <=200bp - T downstream_gene_variant PBCA-DE X 53243142 53243142 insertion of <=200bp - T intron_variant PBCA-DE X 53243142 53243142 insertion of <=200bp - T upstream_gene_variant PBCA-DE X 53246350 53246350 single base substitution C T downstream_gene_variant PBCA-DE X 53246350 53246350 single base substitution C T missense_variant R144Q 431G>A PBCA-DE X 53246350 53246350 single base substitution C T missense_variant R170Q 509G>A PBCA-DE X 53246350 53246350 single base substitution C T missense_variant R210Q 629G>A PBCA-DE X 53246350 53246350 single base substitution C T missense_variant R211Q 632G>A PBCA-DE X 53246350 53246350 single base substitution C T upstream_gene_variant PRAD-CA X 53225711 53225711 single base substitution T G downstream_gene_variant PRAD-CA X 53225711 53225711 single base substitution T G intron_variant PRAD-UK X 53232988 53232988 single base substitution G A intron_variant PRAD-UK X 53232988 53232988 single base substitution G A upstream_gene_variant PRAD-UK X 53239252 53239252 single base substitution T G intron_variant READ-US X 53247550 53247550 single base substitution C T 3_prime_UTR_variant READ-US X 53247550 53247550 single base substitution C T downstream_gene_variant READ-US X 53247550 53247550 single base substitution C T exon_variant READ-US X 53247550 53247550 single base substitution C T intron_variant READ-US X 53247550 53247550 single base substitution C T missense_variant D87N 259G>A READ-US X 53247550 53247550 single base substitution C T upstream_gene_variant RECA-CN X 53222666 53222666 single base substitution G A downstream_gene_variant RECA-CN X 53222666 53222666 single base substitution G A intron_variant RECA-CN X 53222666 53222666 single base substitution G A stop_gained Q1380* 4138C>T RECA-CN X 53222666 53222666 single base substitution G A stop_gained Q1421* 4261C>T RECA-CN X 53222666 53222666 single base substitution G A stop_gained Q1423* 4267C>T RECA-CN X 53222666 53222666 single base substitution G A stop_gained Q1424* 4270C>T RECA-CN X 53253930 53253930 single base substitution G A exon_variant RECA-CN X 53253930 53253930 single base substitution G A missense_variant P48S 142C>T RECA-CN X 53253930 53253930 single base substitution G A upstream_gene_variant RECA-EU X 53218587 53218587 single base substitution G T downstream_gene_variant RECA-EU X 53220976 53220976 single base substitution T C 3_prime_UTR_variant RECA-EU X 53220976 53220976 single base substitution T C downstream_gene_variant RECA-EU X 53226094 53226094 single base substitution G A downstream_gene_variant RECA-EU X 53226094 53226094 single base substitution G A stop_gained Q852* 2554C>T RECA-EU X 53226094 53226094 single base substitution G A stop_gained Q878* 2632C>T RECA-EU X 53226094 53226094 single base substitution G A stop_gained Q918* 2752C>T RECA-EU X 53226094 53226094 single base substitution G A stop_gained Q919* 2755C>T RECA-EU X 53231092 53231092 single base substitution C T exon_variant RECA-EU X 53231092 53231092 single base substitution C T missense_variant G537S 1609G>A RECA-EU X 53231092 53231092 single base substitution C T missense_variant G563S 1687G>A RECA-EU X 53231092 53231092 single base substitution C T missense_variant G603S 1807G>A RECA-EU X 53231092 53231092 single base substitution C T missense_variant G604S 1810G>A RECA-EU X 53231092 53231092 single base substitution C T upstream_gene_variant RECA-EU X 53231115 53231115 single base substitution G C exon_variant RECA-EU X 53231115 53231115 single base substitution G C missense_variant T529S 1586C>G RECA-EU X 53231115 53231115 single base substitution G C missense_variant T555S 1664C>G RECA-EU X 53231115 53231115 single base substitution G C missense_variant T595S 1784C>G RECA-EU X 53231115 53231115 single base substitution G C missense_variant T596S 1787C>G RECA-EU X 53231115 53231115 single base substitution G C upstream_gene_variant RECA-EU X 53239706 53239706 single base substitution C T exon_variant RECA-EU X 53239706 53239706 single base substitution C T missense_variant E479K 1435G>A RECA-EU X 53239706 53239706 single base substitution C T missense_variant E505K 1513G>A RECA-EU X 53239706 53239706 single base substitution C T missense_variant E545K 1633G>A RECA-EU X 53239706 53239706 single base substitution C T missense_variant E546K 1636G>A RECA-EU X 53244982 53244982 single base substitution G A downstream_gene_variant RECA-EU X 53244982 53244982 single base substitution G A exon_variant RECA-EU X 53244982 53244982 single base substitution G A stop_gained Q253* 757C>T RECA-EU X 53244982 53244982 single base substitution G A stop_gained Q279* 835C>T RECA-EU X 53244982 53244982 single base substitution G A stop_gained Q319* 955C>T RECA-EU X 53244982 53244982 single base substitution G A stop_gained Q320* 958C>T RECA-EU X 53244982 53244982 single base substitution G A upstream_gene_variant RECA-EU X 53245452 53245452 single base substitution T A downstream_gene_variant RECA-EU X 53245452 53245452 single base substitution T A intron_variant RECA-EU X 53245452 53245452 single base substitution T A upstream_gene_variant SKCA-BR X 53216947 53216947 insertion of <=200bp - CT downstream_gene_variant SKCA-BR X 53217324 53217324 single base substitution G A downstream_gene_variant SKCA-BR X 53217877 53217877 single base substitution G A downstream_gene_variant SKCA-BR X 53220379 53220379 single base substitution G A downstream_gene_variant SKCA-BR X 53226428 53226428 single base substitution G A downstream_gene_variant SKCA-BR X 53226428 53226428 single base substitution G A intron_variant SKCA-BR X 53229816 53229816 single base substitution T A downstream_gene_variant SKCA-BR X 53229816 53229816 single base substitution T A intron_variant SKCA-BR X 53229816 53229816 single base substitution T A upstream_gene_variant SKCA-BR X 53237462 53237462 single base substitution G A intron_variant SKCA-BR X 53244110 53244110 single base substitution C A downstream_gene_variant SKCA-BR X 53244110 53244110 single base substitution C A intron_variant SKCA-BR X 53244110 53244110 single base substitution C A upstream_gene_variant SKCA-BR X 53247446 53247446 single base substitution A C downstream_gene_variant SKCA-BR X 53247446 53247446 single base substitution A C intron_variant SKCA-BR X 53247446 53247446 single base substitution A C upstream_gene_variant SKCA-BR X 53249399 53249399 single base substitution T C downstream_gene_variant SKCA-BR X 53249399 53249399 single base substitution T C intron_variant SKCA-BR X 53249399 53249399 single base substitution T C upstream_gene_variant SKCA-BR X 53254594 53254594 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR X 53254594 53254594 single base substitution G A upstream_gene_variant SKCA-BR X 53254794 53254794 single base substitution C T upstream_gene_variant SKCA-BR X 53259165 53259165 single base substitution T G upstream_gene_variant SKCA-BR X 53259570 53259570 single base substitution T C upstream_gene_variant SKCM-US X 53222222 53222222 single base substitution G A downstream_gene_variant SKCM-US X 53222222 53222222 single base substitution G A intron_variant SKCM-US X 53222222 53222222 single base substitution G A missense_variant S1493L 4478C>T SKCM-US X 53222222 53222222 single base substitution G A missense_variant S1534L 4601C>T SKCM-US X 53222222 53222222 single base substitution G A missense_variant S1536L 4607C>T SKCM-US X 53222222 53222222 single base substitution G A missense_variant S1537L 4610C>T SKCM-US X 53222467 53222467 single base substitution C T downstream_gene_variant SKCM-US X 53222467 53222467 single base substitution C T intron_variant SKCM-US X 53222467 53222467 single base substitution C T synonymous_variant L1411L 4233G>A SKCM-US X 53222467 53222467 single base substitution C T synonymous_variant L1452L 4356G>A SKCM-US X 53222467 53222467 single base substitution C T synonymous_variant L1454L 4362G>A SKCM-US X 53222467 53222467 single base substitution C T synonymous_variant L1455L 4365G>A SKCM-US X 53223567 53223567 single base substitution G A downstream_gene_variant SKCM-US X 53223567 53223567 single base substitution G A synonymous_variant A1197A 3591C>T SKCM-US X 53223567 53223567 single base substitution G A synonymous_variant A1223A 3669C>T SKCM-US X 53223567 53223567 single base substitution G A synonymous_variant A1263A 3789C>T SKCM-US X 53223567 53223567 single base substitution G A synonymous_variant A1264A 3792C>T SKCM-US X 53223707 53223707 single base substitution G A downstream_gene_variant SKCM-US X 53223707 53223707 single base substitution G A missense_variant R1151C 3451C>T SKCM-US X 53223707 53223707 single base substitution G A missense_variant R1177C 3529C>T SKCM-US X 53223707 53223707 single base substitution G A missense_variant R1217C 3649C>T SKCM-US X 53223707 53223707 single base substitution G A missense_variant R1218C 3652C>T SKCM-US X 53223912 53223912 single base substitution G A downstream_gene_variant SKCM-US X 53223912 53223912 single base substitution G A synonymous_variant A1082A 3246C>T SKCM-US X 53223912 53223912 single base substitution G A synonymous_variant A1108A 3324C>T SKCM-US X 53223912 53223912 single base substitution G A synonymous_variant A1148A 3444C>T SKCM-US X 53223912 53223912 single base substitution G A synonymous_variant A1149A 3447C>T SKCM-US X 53228021 53228021 single base substitution C T downstream_gene_variant SKCM-US X 53228021 53228021 single base substitution C T exon_variant SKCM-US X 53228021 53228021 single base substitution C T missense_variant V698I 2092G>A SKCM-US X 53228021 53228021 single base substitution C T missense_variant V724I 2170G>A SKCM-US X 53228021 53228021 single base substitution C T missense_variant V764I 2290G>A SKCM-US X 53228021 53228021 single base substitution C T missense_variant V765I 2293G>A SKCM-US X 53228021 53228021 single base substitution C T upstream_gene_variant SKCM-US X 53240720 53240720 single base substitution G A downstream_gene_variant SKCM-US X 53240720 53240720 single base substitution G A exon_variant SKCM-US X 53240720 53240720 single base substitution G A missense_variant P387S 1159C>T SKCM-US X 53240720 53240720 single base substitution G A missense_variant P413S 1237C>T SKCM-US X 53240720 53240720 single base substitution G A missense_variant P453S 1357C>T SKCM-US X 53240720 53240720 single base substitution G A missense_variant P454S 1360C>T SKCM-US X 53240720 53240720 single base substitution G A upstream_gene_variant SKCM-US X 53243945 53243945 single base substitution G A downstream_gene_variant SKCM-US X 53243945 53243945 single base substitution G A missense_variant H283Y 847C>T SKCM-US X 53243945 53243945 single base substitution G A missense_variant H309Y 925C>T SKCM-US X 53243945 53243945 single base substitution G A missense_variant H349Y 1045C>T SKCM-US X 53243945 53243945 single base substitution G A missense_variant H350Y 1048C>T SKCM-US X 53243945 53243945 single base substitution G A upstream_gene_variant SKCM-US X 53245323 53245323 single base substitution G A downstream_gene_variant SKCM-US X 53245323 53245323 single base substitution G A exon_variant SKCM-US X 53245323 53245323 single base substitution G A synonymous_variant I171I 513C>T SKCM-US X 53245323 53245323 single base substitution G A synonymous_variant I197I 591C>T SKCM-US X 53245323 53245323 single base substitution G A synonymous_variant I237I 711C>T SKCM-US X 53245323 53245323 single base substitution G A synonymous_variant I238I 714C>T SKCM-US X 53245323 53245323 single base substitution G A upstream_gene_variant SKCM-US X 53245345 53245345 single base substitution G A downstream_gene_variant SKCM-US X 53245345 53245345 single base substitution G A exon_variant SKCM-US X 53245345 53245345 single base substitution G A missense_variant P164L 491C>T SKCM-US X 53245345 53245345 single base substitution G A missense_variant P190L 569C>T SKCM-US X 53245345 53245345 single base substitution G A missense_variant P230L 689C>T SKCM-US X 53245345 53245345 single base substitution G A missense_variant P231L 692C>T SKCM-US X 53245345 53245345 single base substitution G A upstream_gene_variant SKCM-US X 53250049 53250049 single base substitution G A 3_prime_UTR_variant SKCM-US X 53250049 53250049 single base substitution G A downstream_gene_variant SKCM-US X 53250049 53250049 single base substitution G A exon_variant SKCM-US X 53250049 53250049 single base substitution G A intron_variant SKCM-US X 53250049 53250049 single base substitution G A missense_variant P67L 200C>T SKCM-US X 53250049 53250049 single base substitution G A upstream_gene_variant STAD-US X 53222309 53222309 deletion of <=200bp G - downstream_gene_variant STAD-US X 53222309 53222309 deletion of <=200bp G - frameshift_variant P1464 STAD-US X 53222309 53222309 deletion of <=200bp G - frameshift_variant P1505 STAD-US X 53222309 53222309 deletion of <=200bp G - frameshift_variant P1507 STAD-US X 53222309 53222309 deletion of <=200bp G - frameshift_variant P1508 STAD-US X 53222309 53222309 deletion of <=200bp G - intron_variant STAD-US X 53222309 53222309 insertion of <=200bp - G downstream_gene_variant STAD-US X 53222309 53222309 insertion of <=200bp - G frameshift_variant P1464P? STAD-US X 53222309 53222309 insertion of <=200bp - G frameshift_variant P1505P? STAD-US X 53222309 53222309 insertion of <=200bp - G frameshift_variant P1507P? STAD-US X 53222309 53222309 insertion of <=200bp - G frameshift_variant P1508P? STAD-US X 53222309 53222309 insertion of <=200bp - G intron_variant STAD-US X 53222343 53222343 single base substitution C G downstream_gene_variant STAD-US X 53222343 53222343 single base substitution C G intron_variant STAD-US X 53222343 53222343 single base substitution C G missense_variant E1453Q 4357G>C STAD-US X 53222343 53222343 single base substitution C G missense_variant E1494Q 4480G>C STAD-US X 53222343 53222343 single base substitution C G missense_variant E1496Q 4486G>C STAD-US X 53222343 53222343 single base substitution C G missense_variant E1497Q 4489G>C STAD-US X 53222406 53222406 single base substitution C T downstream_gene_variant STAD-US X 53222406 53222406 single base substitution C T intron_variant STAD-US X 53222406 53222406 single base substitution C T missense_variant E1432K 4294G>A STAD-US X 53222406 53222406 single base substitution C T missense_variant E1473K 4417G>A STAD-US X 53222406 53222406 single base substitution C T missense_variant E1475K 4423G>A STAD-US X 53222406 53222406 single base substitution C T missense_variant E1476K 4426G>A STAD-US X 53225096 53225096 single base substitution A G downstream_gene_variant STAD-US X 53225096 53225096 single base substitution A G splice_donor_variant STAD-US X 53226001 53226001 single base substitution T C downstream_gene_variant STAD-US X 53226001 53226001 single base substitution T C missense_variant M883V 2647A>G STAD-US X 53226001 53226001 single base substitution T C missense_variant M909V 2725A>G STAD-US X 53226001 53226001 single base substitution T C missense_variant M949V 2845A>G STAD-US X 53226001 53226001 single base substitution T C missense_variant M950V 2848A>G STAD-US X 53227713 53227713 single base substitution G A downstream_gene_variant STAD-US X 53227713 53227713 single base substitution G A exon_variant STAD-US X 53227713 53227713 single base substitution G A synonymous_variant C758C 2274C>T STAD-US X 53227713 53227713 single base substitution G A synonymous_variant C784C 2352C>T STAD-US X 53227713 53227713 single base substitution G A synonymous_variant C824C 2472C>T STAD-US X 53227713 53227713 single base substitution G A synonymous_variant C825C 2475C>T STAD-US X 53227772 53227772 single base substitution A G downstream_gene_variant STAD-US X 53227772 53227772 single base substitution A G exon_variant STAD-US X 53227772 53227772 single base substitution A G missense_variant F739L 2215T>C STAD-US X 53227772 53227772 single base substitution A G missense_variant F765L 2293T>C STAD-US X 53227772 53227772 single base substitution A G missense_variant F805L 2413T>C STAD-US X 53227772 53227772 single base substitution A G missense_variant F806L 2416T>C STAD-US X 53227772 53227772 single base substitution A G upstream_gene_variant STAD-US X 53228037 53228037 insertion of <=200bp - A downstream_gene_variant STAD-US X 53228037 53228037 insertion of <=200bp - A exon_variant STAD-US X 53228037 53228037 insertion of <=200bp - A frameshift_variant M692M? STAD-US X 53228037 53228037 insertion of <=200bp - A frameshift_variant M718M? STAD-US X 53228037 53228037 insertion of <=200bp - A frameshift_variant M758M? STAD-US X 53228037 53228037 insertion of <=200bp - A frameshift_variant M759M? STAD-US X 53228037 53228037 insertion of <=200bp - A upstream_gene_variant STAD-US X 53228038 53228038 insertion of <=200bp - A downstream_gene_variant STAD-US X 53228038 53228038 insertion of <=200bp - A exon_variant STAD-US X 53228038 53228038 insertion of <=200bp - A frameshift_variant M692I? STAD-US X 53228038 53228038 insertion of <=200bp - A frameshift_variant M718I? STAD-US X 53228038 53228038 insertion of <=200bp - A frameshift_variant M758I? STAD-US X 53228038 53228038 insertion of <=200bp - A frameshift_variant M759I? STAD-US X 53228038 53228038 insertion of <=200bp - A upstream_gene_variant STAD-US X 53228052 53228052 single base substitution A G downstream_gene_variant STAD-US X 53228052 53228052 single base substitution A G exon_variant STAD-US X 53228052 53228052 single base substitution A G synonymous_variant D687D 2061T>C STAD-US X 53228052 53228052 single base substitution A G synonymous_variant D713D 2139T>C STAD-US X 53228052 53228052 single base substitution A G synonymous_variant D753D 2259T>C STAD-US X 53228052 53228052 single base substitution A G synonymous_variant D754D 2262T>C STAD-US X 53228052 53228052 single base substitution A G upstream_gene_variant STAD-US X 53230892 53230892 single base substitution C T exon_variant STAD-US X 53230892 53230892 single base substitution C T missense_variant R567H 1700G>A STAD-US X 53230892 53230892 single base substitution C T missense_variant R593H 1778G>A STAD-US X 53230892 53230892 single base substitution C T missense_variant R633H 1898G>A STAD-US X 53230892 53230892 single base substitution C T missense_variant R634H 1901G>A STAD-US X 53230892 53230892 single base substitution C T upstream_gene_variant STAD-US X 53231066 53231066 single base substitution G A exon_variant STAD-US X 53231066 53231066 single base substitution G A synonymous_variant A545A 1635C>T STAD-US X 53231066 53231066 single base substitution G A synonymous_variant A571A 1713C>T STAD-US X 53231066 53231066 single base substitution G A synonymous_variant A611A 1833C>T STAD-US X 53231066 53231066 single base substitution G A synonymous_variant A612A 1836C>T STAD-US X 53231066 53231066 single base substitution G A upstream_gene_variant STAD-US X 53231107 53231107 deletion of <=200bp G - exon_variant STAD-US X 53231107 53231107 deletion of <=200bp G - frameshift_variant R532 STAD-US X 53231107 53231107 deletion of <=200bp G - frameshift_variant R558 STAD-US X 53231107 53231107 deletion of <=200bp G - frameshift_variant R598 STAD-US X 53231107 53231107 deletion of <=200bp G - frameshift_variant R599 STAD-US X 53231107 53231107 deletion of <=200bp G - upstream_gene_variant STAD-US X 53240993 53240993 single base substitution A G downstream_gene_variant STAD-US X 53240993 53240993 single base substitution A G synonymous_variant A339A 1017T>C STAD-US X 53240993 53240993 single base substitution A G synonymous_variant A365A 1095T>C STAD-US X 53240993 53240993 single base substitution A G synonymous_variant A405A 1215T>C STAD-US X 53240993 53240993 single base substitution A G synonymous_variant A406A 1218T>C STAD-US X 53240993 53240993 single base substitution A G upstream_gene_variant STAD-US X 53241008 53241008 single base substitution G A downstream_gene_variant STAD-US X 53241008 53241008 single base substitution G A synonymous_variant A334A 1002C>T STAD-US X 53241008 53241008 single base substitution G A synonymous_variant A360A 1080C>T STAD-US X 53241008 53241008 single base substitution G A synonymous_variant A400A 1200C>T STAD-US X 53241008 53241008 single base substitution G A synonymous_variant A401A 1203C>T STAD-US X 53241008 53241008 single base substitution G A upstream_gene_variant STAD-US X 53241077 53241077 single base substitution C T downstream_gene_variant STAD-US X 53241077 53241077 single base substitution C T synonymous_variant R311R 933G>A STAD-US X 53241077 53241077 single base substitution C T synonymous_variant R337R 1011G>A STAD-US X 53241077 53241077 single base substitution C T synonymous_variant R377R 1131G>A STAD-US X 53241077 53241077 single base substitution C T synonymous_variant R378R 1134G>A STAD-US X 53241077 53241077 single base substitution C T upstream_gene_variant STAD-US X 53243871 53243871 single base substitution C T downstream_gene_variant STAD-US X 53243871 53243871 single base substitution C T splice_region_variant STAD-US X 53243871 53243871 single base substitution C T upstream_gene_variant STAD-US X 53244983 53244983 single base substitution G A downstream_gene_variant STAD-US X 53244983 53244983 single base substitution G A exon_variant STAD-US X 53244983 53244983 single base substitution G A synonymous_variant A252A 756C>T STAD-US X 53244983 53244983 single base substitution G A synonymous_variant A278A 834C>T STAD-US X 53244983 53244983 single base substitution G A synonymous_variant A318A 954C>T STAD-US X 53244983 53244983 single base substitution G A synonymous_variant A319A 957C>T STAD-US X 53244983 53244983 single base substitution G A upstream_gene_variant STAD-US X 53245079 53245079 single base substitution C T downstream_gene_variant STAD-US X 53245079 53245079 single base substitution C T exon_variant STAD-US X 53245079 53245079 single base substitution C T synonymous_variant S220S 660G>A STAD-US X 53245079 53245079 single base substitution C T synonymous_variant S246S 738G>A STAD-US X 53245079 53245079 single base substitution C T synonymous_variant S286S 858G>A STAD-US X 53245079 53245079 single base substitution C T synonymous_variant S287S 861G>A STAD-US X 53245079 53245079 single base substitution C T upstream_gene_variant STAD-US X 53246351 53246351 single base substitution G A downstream_gene_variant STAD-US X 53246351 53246351 single base substitution G A missense_variant R144W 430C>T STAD-US X 53246351 53246351 single base substitution G A missense_variant R170W 508C>T STAD-US X 53246351 53246351 single base substitution G A missense_variant R210W 628C>T STAD-US X 53246351 53246351 single base substitution G A missense_variant R211W 631C>T STAD-US X 53246351 53246351 single base substitution G A upstream_gene_variant STAD-US X 53246393 53246393 deletion of <=200bp G - downstream_gene_variant STAD-US X 53246393 53246393 deletion of <=200bp G - frameshift_variant L130 STAD-US X 53246393 53246393 deletion of <=200bp G - frameshift_variant L156 STAD-US X 53246393 53246393 deletion of <=200bp G - frameshift_variant L196 STAD-US X 53246393 53246393 deletion of <=200bp G - frameshift_variant L197 STAD-US X 53246393 53246393 deletion of <=200bp G - upstream_gene_variant STAD-US X 53247013 53247013 single base substitution G A 3_prime_UTR_variant STAD-US X 53247013 53247013 single base substitution G A downstream_gene_variant STAD-US X 53247013 53247013 single base substitution G A exon_variant STAD-US X 53247013 53247013 single base substitution G A missense_variant P122S 364C>T STAD-US X 53247013 53247013 single base substitution G A missense_variant P163S 487C>T STAD-US X 53247013 53247013 single base substitution G A missense_variant P96S 286C>T STAD-US X 53247013 53247013 single base substitution G A upstream_gene_variant STAD-US X 53247024 53247024 single base substitution C T 3_prime_UTR_variant STAD-US X 53247024 53247024 single base substitution C T downstream_gene_variant STAD-US X 53247024 53247024 single base substitution C T exon_variant STAD-US X 53247024 53247024 single base substitution C T missense_variant R118H 353G>A STAD-US X 53247024 53247024 single base substitution C T missense_variant R159H 476G>A STAD-US X 53247024 53247024 single base substitution C T missense_variant R92H 275G>A STAD-US X 53247024 53247024 single base substitution C T upstream_gene_variant STAD-US X 53247093 53247093 single base substitution C T 3_prime_UTR_variant STAD-US X 53247093 53247093 single base substitution C T downstream_gene_variant STAD-US X 53247093 53247093 single base substitution C T exon_variant STAD-US X 53247093 53247093 single base substitution C T missense_variant R136Q 407G>A STAD-US X 53247093 53247093 single base substitution C T missense_variant R69Q 206G>A STAD-US X 53247093 53247093 single base substitution C T missense_variant R95Q 284G>A STAD-US X 53247093 53247093 single base substitution C T upstream_gene_variant STAD-US X 53247567 53247567 single base substitution A G 3_prime_UTR_variant STAD-US X 53247567 53247567 single base substitution A G downstream_gene_variant STAD-US X 53247567 53247567 single base substitution A G exon_variant STAD-US X 53247567 53247567 single base substitution A G intron_variant STAD-US X 53247567 53247567 single base substitution A G missense_variant V81A 242T>C STAD-US X 53247567 53247567 single base substitution A G upstream_gene_variant THCA-SA X 53224210 53224210 single base substitution T C downstream_gene_variant THCA-SA X 53224210 53224210 single base substitution T C missense_variant K1047R 3140A>G THCA-SA X 53224210 53224210 single base substitution T C missense_variant K1073R 3218A>G THCA-SA X 53224210 53224210 single base substitution T C missense_variant K1113R 3338A>G THCA-SA X 53224210 53224210 single base substitution T C missense_variant K1114R 3341A>G UCEC-US X 53221942 53221942 single base substitution A G 3_prime_UTR_variant UCEC-US X 53221942 53221942 single base substitution A G downstream_gene_variant UCEC-US X 53221942 53221942 single base substitution A G missense_variant V1375A 4124T>C UCEC-US X 53222381 53222381 single base substitution C T downstream_gene_variant UCEC-US X 53222381 53222381 single base substitution C T intron_variant UCEC-US X 53222381 53222381 single base substitution C T missense_variant S1440N 4319G>A UCEC-US X 53222381 53222381 single base substitution C T missense_variant S1481N 4442G>A UCEC-US X 53222381 53222381 single base substitution C T missense_variant S1483N 4448G>A UCEC-US X 53222381 53222381 single base substitution C T missense_variant S1484N 4451G>A UCEC-US X 53222632 53222632 single base substitution C T downstream_gene_variant UCEC-US X 53222632 53222632 single base substitution C T intron_variant UCEC-US X 53222632 53222632 single base substitution C T missense_variant R1391H 4172G>A UCEC-US X 53222632 53222632 single base substitution C T missense_variant R1432H 4295G>A UCEC-US X 53222632 53222632 single base substitution C T missense_variant R1434H 4301G>A UCEC-US X 53222632 53222632 single base substitution C T missense_variant R1435H 4304G>A UCEC-US X 53222681 53222681 single base substitution T C downstream_gene_variant UCEC-US X 53222681 53222681 single base substitution T C missense_variant I1349V 4045A>G UCEC-US X 53222681 53222681 single base substitution T C missense_variant I1375V 4123A>G UCEC-US X 53222681 53222681 single base substitution T C missense_variant I1416V 4246A>G UCEC-US X 53222681 53222681 single base substitution T C missense_variant I1418V 4252A>G UCEC-US X 53222681 53222681 single base substitution T C missense_variant I1419V 4255A>G UCEC-US X 53223485 53223485 single base substitution C T downstream_gene_variant UCEC-US X 53223485 53223485 single base substitution C T missense_variant A1225T 3673G>A UCEC-US X 53223485 53223485 single base substitution C T missense_variant A1251T 3751G>A UCEC-US X 53223485 53223485 single base substitution C T missense_variant A1291T 3871G>A UCEC-US X 53223485 53223485 single base substitution C T missense_variant A1292T 3874G>A UCEC-US X 53223485 53223490 deletion of <=200bp CGCGGC - disruptive_inframe_deletion GRA1223A UCEC-US X 53223485 53223490 deletion of <=200bp CGCGGC - disruptive_inframe_deletion GRA1249A UCEC-US X 53223485 53223490 deletion of <=200bp CGCGGC - disruptive_inframe_deletion GRA1289A UCEC-US X 53223485 53223490 deletion of <=200bp CGCGGC - disruptive_inframe_deletion GRA1290A UCEC-US X 53223485 53223490 deletion of <=200bp CGCGGC - downstream_gene_variant UCEC-US X 53223668 53223668 single base substitution G T downstream_gene_variant UCEC-US X 53223668 53223668 single base substitution G T missense_variant P1164T 3490C>A UCEC-US X 53223668 53223668 single base substitution G T missense_variant P1190T 3568C>A UCEC-US X 53223668 53223668 single base substitution G T missense_variant P1230T 3688C>A UCEC-US X 53223668 53223668 single base substitution G T missense_variant P1231T 3691C>A UCEC-US X 53223716 53223717 deletion of <=200bp AC - downstream_gene_variant UCEC-US X 53223716 53223717 deletion of <=200bp AC - frameshift_variant VS1147 UCEC-US X 53223716 53223717 deletion of <=200bp AC - frameshift_variant VS1173 UCEC-US X 53223716 53223717 deletion of <=200bp AC - frameshift_variant VS1213 UCEC-US X 53223716 53223717 deletion of <=200bp AC - frameshift_variant VS1214 UCEC-US X 53223719 53223719 single base substitution C T downstream_gene_variant UCEC-US X 53223719 53223719 single base substitution C T missense_variant V1147M 3439G>A UCEC-US X 53223719 53223719 single base substitution C T missense_variant V1173M 3517G>A UCEC-US X 53223719 53223719 single base substitution C T missense_variant V1213M 3637G>A UCEC-US X 53223719 53223719 single base substitution C T missense_variant V1214M 3640G>A UCEC-US X 53223813 53223813 single base substitution G T downstream_gene_variant UCEC-US X 53223813 53223813 single base substitution G T synonymous_variant S1115S 3345C>A UCEC-US X 53223813 53223813 single base substitution G T synonymous_variant S1141S 3423C>A UCEC-US X 53223813 53223813 single base substitution G T synonymous_variant S1181S 3543C>A UCEC-US X 53223813 53223813 single base substitution G T synonymous_variant S1182S 3546C>A UCEC-US X 53224235 53224235 single base substitution C T downstream_gene_variant UCEC-US X 53224235 53224235 single base substitution C T missense_variant A1039T 3115G>A UCEC-US X 53224235 53224235 single base substitution C T missense_variant A1065T 3193G>A UCEC-US X 53224235 53224235 single base substitution C T missense_variant A1105T 3313G>A UCEC-US X 53224235 53224235 single base substitution C T missense_variant A1106T 3316G>A UCEC-US X 53224555 53224555 single base substitution C T downstream_gene_variant UCEC-US X 53224555 53224555 single base substitution C T missense_variant G1012D 3035G>A UCEC-US X 53224555 53224555 single base substitution C T missense_variant G1052D 3155G>A UCEC-US X 53224555 53224555 single base substitution C T missense_variant G1053D 3158G>A UCEC-US X 53224555 53224555 single base substitution C T missense_variant G986D 2957G>A UCEC-US X 53225142 53225142 single base substitution G A downstream_gene_variant UCEC-US X 53225142 53225142 single base substitution G A missense_variant L1025F 3073C>T UCEC-US X 53225142 53225142 single base substitution G A missense_variant L1026F 3076C>T UCEC-US X 53225142 53225142 single base substitution G A missense_variant L959F 2875C>T UCEC-US X 53225142 53225142 single base substitution G A missense_variant L985F 2953C>T UCEC-US X 53226043 53226043 single base substitution G A downstream_gene_variant UCEC-US X 53226043 53226043 single base substitution G A missense_variant R869C 2605C>T UCEC-US X 53226043 53226043 single base substitution G A missense_variant R895C 2683C>T UCEC-US X 53226043 53226043 single base substitution G A missense_variant R935C 2803C>T UCEC-US X 53226043 53226043 single base substitution G A missense_variant R936C 2806C>T UCEC-US X 53227672 53227672 single base substitution C A downstream_gene_variant UCEC-US X 53227672 53227672 single base substitution C A exon_variant UCEC-US X 53227672 53227672 single base substitution C A missense_variant G772V 2315G>T UCEC-US X 53227672 53227672 single base substitution C A missense_variant G798V 2393G>T UCEC-US X 53227672 53227672 single base substitution C A missense_variant G838V 2513G>T UCEC-US X 53227672 53227672 single base substitution C A missense_variant G839V 2516G>T UCEC-US X 53227672 53227672 single base substitution C A splice_region_variant UCEC-US X 53228018 53228018 single base substitution G A downstream_gene_variant UCEC-US X 53228018 53228018 single base substitution G A exon_variant UCEC-US X 53228018 53228018 single base substitution G A missense_variant R699W 2095C>T UCEC-US X 53228018 53228018 single base substitution G A missense_variant R725W 2173C>T UCEC-US X 53228018 53228018 single base substitution G A missense_variant R765W 2293C>T UCEC-US X 53228018 53228018 single base substitution G A missense_variant R766W 2296C>T UCEC-US X 53228018 53228018 single base substitution G A upstream_gene_variant UCEC-US X 53228264 53228264 single base substitution G A downstream_gene_variant UCEC-US X 53228264 53228264 single base substitution G A exon_variant UCEC-US X 53228264 53228264 single base substitution G A missense_variant T646M 1937C>T UCEC-US X 53228264 53228264 single base substitution G A missense_variant T672M 2015C>T UCEC-US X 53228264 53228264 single base substitution G A missense_variant T712M 2135C>T UCEC-US X 53228264 53228264 single base substitution G A missense_variant T713M 2138C>T UCEC-US X 53228264 53228264 single base substitution G A upstream_gene_variant UCEC-US X 53228293 53228293 single base substitution A G downstream_gene_variant UCEC-US X 53228293 53228293 single base substitution A G exon_variant UCEC-US X 53228293 53228293 single base substitution A G synonymous_variant D636D 1908T>C UCEC-US X 53228293 53228293 single base substitution A G synonymous_variant D662D 1986T>C UCEC-US X 53228293 53228293 single base substitution A G synonymous_variant D702D 2106T>C UCEC-US X 53228293 53228293 single base substitution A G synonymous_variant D703D 2109T>C UCEC-US X 53228293 53228293 single base substitution A G upstream_gene_variant UCEC-US X 53231131 53231131 single base substitution C T exon_variant UCEC-US X 53231131 53231131 single base substitution C T missense_variant G524R 1570G>A UCEC-US X 53231131 53231131 single base substitution C T missense_variant G550R 1648G>A UCEC-US X 53231131 53231131 single base substitution C T missense_variant G590R 1768G>A UCEC-US X 53231131 53231131 single base substitution C T missense_variant G591R 1771G>A UCEC-US X 53231131 53231131 single base substitution C T upstream_gene_variant UCEC-US X 53239622 53239622 single base substitution T C exon_variant UCEC-US X 53239622 53239622 single base substitution T C missense_variant N507D 1519A>G UCEC-US X 53239622 53239622 single base substitution T C missense_variant N533D 1597A>G UCEC-US X 53239622 53239622 single base substitution T C missense_variant N573D 1717A>G UCEC-US X 53239622 53239622 single base substitution T C missense_variant N574D 1720A>G UCEC-US X 53241055 53241055 single base substitution C G downstream_gene_variant UCEC-US X 53241055 53241055 single base substitution C G missense_variant E319Q 955G>C UCEC-US X 53241055 53241055 single base substitution C G missense_variant E345Q 1033G>C UCEC-US X 53241055 53241055 single base substitution C G missense_variant E385Q 1153G>C UCEC-US X 53241055 53241055 single base substitution C G missense_variant E386Q 1156G>C UCEC-US X 53241055 53241055 single base substitution C G upstream_gene_variant UCEC-US X 53243889 53243889 single base substitution G A downstream_gene_variant UCEC-US X 53243889 53243889 single base substitution G A synonymous_variant C301C 903C>T UCEC-US X 53243889 53243889 single base substitution G A synonymous_variant C327C 981C>T UCEC-US X 53243889 53243889 single base substitution G A synonymous_variant C367C 1101C>T UCEC-US X 53243889 53243889 single base substitution G A synonymous_variant C368C 1104C>T UCEC-US X 53243889 53243889 single base substitution G A upstream_gene_variant UCEC-US X 53243994 53243994 single base substitution C T downstream_gene_variant UCEC-US X 53243994 53243994 single base substitution C T synonymous_variant G266G 798G>A UCEC-US X 53243994 53243994 single base substitution C T synonymous_variant G292G 876G>A UCEC-US X 53243994 53243994 single base substitution C T synonymous_variant G332G 996G>A UCEC-US X 53243994 53243994 single base substitution C T synonymous_variant G333G 999G>A UCEC-US X 53243994 53243994 single base substitution C T upstream_gene_variant UCEC-US X 53245347 53245347 single base substitution A G downstream_gene_variant UCEC-US X 53245347 53245347 single base substitution A G exon_variant UCEC-US X 53245347 53245347 single base substitution A G synonymous_variant N163N 489T>C UCEC-US X 53245347 53245347 single base substitution A G synonymous_variant N189N 567T>C UCEC-US X 53245347 53245347 single base substitution A G synonymous_variant N229N 687T>C UCEC-US X 53245347 53245347 single base substitution A G synonymous_variant N230N 690T>C UCEC-US X 53245347 53245347 single base substitution A G upstream_gene_variant UCEC-US X 53247029 53247029 single base substitution G A 3_prime_UTR_variant UCEC-US X 53247029 53247029 single base substitution G A downstream_gene_variant UCEC-US X 53247029 53247029 single base substitution G A exon_variant UCEC-US X 53247029 53247029 single base substitution G A synonymous_variant Y116Y 348C>T UCEC-US X 53247029 53247029 single base substitution G A synonymous_variant Y157Y 471C>T UCEC-US X 53247029 53247029 single base substitution G A synonymous_variant Y90Y 270C>T UCEC-US X 53247029 53247029 single base substitution G A upstream_gene_variant UCEC-US X 53247533 53247533 single base substitution G T 3_prime_UTR_variant UCEC-US X 53247533 53247533 single base substitution G T downstream_gene_variant UCEC-US X 53247533 53247533 single base substitution G T exon_variant UCEC-US X 53247533 53247533 single base substitution G T intron_variant UCEC-US X 53247533 53247533 single base substitution G T missense_variant F92L 276C>A UCEC-US X 53247533 53247533 single base substitution G T upstream_gene_variant UCEC-US X 53247579 53247579 single base substitution G A downstream_gene_variant UCEC-US X 53247579 53247579 single base substitution G A exon_variant UCEC-US X 53247579 53247579 single base substitution G A intron_variant UCEC-US X 53247579 53247579 single base substitution G A missense_variant A77V 230C>T UCEC-US X 53247579 53247579 single base substitution G A splice_region_variant UCEC-US X 53247579 53247579 single base substitution G A upstream_gene_variant UCEC-US X 53254008 53254008 single base substitution C T exon_variant UCEC-US X 53254008 53254008 single base substitution C T missense_variant A22T 64G>A UCEC-US X 53254008 53254008 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ATL073 COSM5711701 c.824A>G p.E275G Substitution - Missense 23:53215934-53215934 - TCGA-AK-3430-01 COSM3364143 c.3454G>A p.E1152K Substitution - Missense 23:53194723-53194723 - HCC2998 COSM2967945 c.2386G>A p.A796T Substitution - Missense 23:53198620-53198620 - TCGA-09-1664-01 COSM1331809 c.4639C>T p.L1547L Substitution - coding silent 23:53193011-53193011 - TCGA-BP-5195-01 COSM488466 c.865A>T p.K289* Substitution - Nonsense 23:53215893-53215893 - QC2-09-T2 COSM5652246 c.2585A>T p.N862I Substitution - Missense 23:53197808-53197808 - PTC_269 COSM5960520 c.3341A>G p.K1114R Substitution - Missense 23:53195028-53195028 - CSCC-40-T COSM4490542 c.3657C>T p.L1219L Substitution - coding silent 23:53194520-53194520 - TCGA-BP-4342-01 COSM3364152 c.1938G>T p.E646D Substitution - Missense 23:53201673-53201673 - ccRCC-62 COSM1665533 c.1984delC p.L662fs*102 Deletion - Frameshift 23:53201627-53201627 - 2368117 COSM5006563 c.? p.V783E Substitution - Missense TCGA-CM-5863-01 COSM1468493 c.2949G>A p.W983* Substitution - Nonsense 23:53196718-53196718 - TCGA-AP-A0LM-01 COSM1599614 c.3640G>A p.V1214M Substitution - Missense 23:53194537-53194537 - TCGA-CG-4442-01 COSM4110043 c.2848A>G p.M950V Substitution - Missense 23:53196819-53196819 - TCGA-B5-A11E-01 COSM1122947 c.2516G>T p.G839V Substitution - Missense 23:53198490-53198490 - 001 COSM1161956 c.2062-2A>T p.? Unknown 23:53199160-53199160 - K29-Tumor COSM4149622 c.142C>T p.P48S Substitution - Missense 23:53224748-53224748 - PD4085a COSM4810359 c.2150C>T p.S717L Substitution - Missense 23:53199070-53199070 - 2389802 COSM5032212 c.? p.P380fs*50 Frameshift 2368121 COSM5006564 c.? p.I1511T Substitution - Missense SC-her2-043 COSM4777523 c.3997T>G p.S1333A Substitution - Missense 23:53194180-53194180 - EV001-R2 COSM1161914 c.4213G>C p.E1405Q Substitution - Missense 23:53193541-53193541 - ccRCC-14 COSM1665536 c.693_696delAGAG p.E232fs*1 Deletion - Frameshift 23:53216159-53216162 - TCGA-BP-5000-01 COSM1211790 c.2437C>T p.Q813* Substitution - Nonsense 23:53198569-53198569 - TCGA-BP-5189-01 COSM3358416 c.2962delC p.H988fs*18 Deletion - Frameshift 23:53196705-53196705 - 2217235 COSM4169835 c.2042G>T p.R681L Substitution - Missense 23:53201569-53201569 - TCGA-BS-A0UL-01 COSM1155410 c.3158G>A p.G1053D Substitution - Missense 23:53195373-53195373 - TCGA-D3-A51T-06 COSM3562276 c.4365G>A p.L1455L Substitution - coding silent 23:53193285-53193285 - TCGA-G4-6293-01 COSM1468514 c.1395A>T p.E465D Substitution - Missense 23:53211503-53211503 - TCGA-G4-6302-01 COSM3759523 c.4472A>G p.E1491G Substitution - Missense 23:53193178-53193178 - HCC111T COSM1625983 c.1861G>T p.D621Y Substitution - Missense 23:53201859-53201859 - CHC1704T COSM5348735 c.3126_3127insTAGAATGGT p.G1042_D1043ins* Insertion - In frame 23:53195404-53195405 - TCGA-BP-4159-01 COSM3364155 c.1375A>T p.K459* Substitution - Nonsense 23:53211523-53211523 - PR-04-3113 COSM245199 c.1973T>C p.L658P Substitution - Missense 23:53201638-53201638 - 2218675 COSM4169711 c.? p.V833fs*21 Unknown BK0029 COSM4186798 c.1614delC p.S539fs*10 Deletion - Frameshift 23:53210546-53210546 - TCGA-AX-A0J1-01 COSM1122923 c.4304G>A p.R1435H Substitution - Missense 23:53193450-53193450 - TCGA-BP-4159-01 COSM3364157 c.1375A>T p.K459* Substitution - Nonsense 23:53211523-53211523 - TCGA-C5-A1MK-01 COSM4827149 c.2067C>T p.I689I Substitution - coding silent 23:53199153-53199153 - 2217235 COSM4169837 c.2042G>T p.R681L Substitution - Missense 23:53201569-53201569 - TCGA-D3-A3C8-06 COSM3562280 c.3652C>T p.R1218C Substitution - Missense 23:53194525-53194525 - T3174 COSM1732148 c.1864T>C p.W622R Substitution - Missense 23:53201856-53201856 - Pat_24_A COSM191436 c.3497G>A p.R1166H Substitution - Missense 23:53194680-53194680 - C7 COSM1732043 c.2962C>T p.H988Y Substitution - Missense 23:53196705-53196705 - 259610 COSM3725460 c.4039-4G>A p.? Unknown 23:53193855-53193855 - 2334196 COSM321153 c.3460G>T p.E1154* Substitution - Nonsense 23:53194717-53194717 - UM-SCC-17B COSM4598780 c.1596G>T p.K532N Substitution - Missense 23:53210564-53210564 - QC2-09-T2 COSM5652244 c.2585A>T p.N862I Substitution - Missense 23:53197808-53197808 - CHEWS008 COSM1155421 c.471C>T p.Y157Y Substitution - coding silent 23:53217847-53217847 - TCGA-E9-A1RH-01 COSM1491077 c.345C>T p.L115L Substitution - coding silent 23:53218282-53218282 - CHC1775T COSM71284 c.2735G>A p.G912E Substitution - Missense 23:53196932-53196932 - TCGA-B0-5108-01 COSM3358419 c.1915_1916insA p.Y639fs*1 Insertion - Frameshift 23:53201695-53201696 - T3152 COSM4695013 c.3825C>T p.G1275G Substitution - coding silent 23:53194352-53194352 - TCGA-BK-A0C9-01 COSM1122962 c.1497G>A p.V499V Substitution - coding silent 23:53210762-53210762 - TCGA-BK-A0C9-01 COSM1122977 c.248T>C p.L83P Substitution - Missense 23:53218379-53218379 - PCSI_0264_Pa_P_526 COSM4965659 c.2509G>A p.E837K Substitution - Missense 23:53198497-53198497 - TCGA-BR-4184-01 COSM4110083 c.476G>A p.R159H Substitution - Missense 23:53217842-53217842 - 3 COSM5732054 c.4423G>C p.E1475Q Substitution - Missense 23:53193227-53193227 - T368 COSM4695006 c.4665G>A p.P1555P Substitution - coding silent 23:53192985-53192985 - 587332 COSM1211790 c.2437C>T p.Q813* Substitution - Nonsense 23:53198569-53198569 - SH-102782 COSM5021054 c.2292G>A p.K764K Substitution - coding silent 23:53198840-53198840 - TCGA-CJ-4871-01 COSM3358427 c.167_168delTT p.F56fs*18 Deletion - Frameshift 23:53220899-53220900 - TCGA-AN-A0AK-01 COSM2967955 c.1988C>T p.A663V Substitution - Missense 23:53201623-53201623 - TCGA-B0-5108-01 COSM3358417 c.1915_1916insA p.Y639fs*1 Insertion - Frameshift 23:53201695-53201696 - BD236T COSM5485343 c.2783C>T p.A928V Substitution - Missense 23:53196884-53196884 - S0078 COSM5885052 c.4652G>A p.C1551Y Substitution - Missense 23:53192998-53192998 - TCGA-B0-4816-01 COSM488462 c.1606G>T p.G536W Substitution - Missense 23:53210554-53210554 - SJHGG112_R COSM4969950 c.2332C>T p.R778* Substitution - Nonsense 23:53198800-53198800 - BK0067 COSM4188544 c.2091delC p.F697fs*67 Deletion - Frameshift 23:53199129-53199129 - C7 COSM1732045 c.2962C>T p.H988Y Substitution - Missense 23:53196705-53196705 - PD6650a COSM3719985 c.1678C>A p.Q560K Substitution - Missense 23:53210482-53210482 - 587316 COSM1211778 c.3563G>C p.C1188S Substitution - Missense 23:53194614-53194614 - STC297 COSM5064753 c.3079G>A p.A1027T Substitution - Missense 23:53195957-53195957 - Gp5D COSM2967979 c.1674T>A p.D558E Substitution - Missense 23:53210486-53210486 - PCSI_0264_Pa_P_526 COSM4965661 c.2509G>A p.E837K Substitution - Missense 23:53198497-53198497 - L7 COSM1732112 c.4649C>T p.P1550L Substitution - Missense 23:53193001-53193001 - TCGA-BP-4351-01 COSM3358411 c.3391delG p.E1131fs*16 Deletion - Frameshift 23:53194978-53194978 - TCGA-D3-A3C8-06 COSM3562282 c.3652C>T p.R1218C Substitution - Missense 23:53194525-53194525 - TCGA-D8-A1J8-01 COSM3844993 c.3319G>C p.D1107H Substitution - Missense 23:53195050-53195050 - CHC1775T COSM4800942 c.2735G>A p.G912E Substitution - Missense 23:53196932-53196932 - TCGA-66-2755-01 COSM1648300 c.503A>T p.Q168L Substitution - Missense 23:53217815-53217815 - EV001-R3 COSM1161909 c.4219delG p.D1407fs*5 Deletion - Frameshift 23:53193535-53193535 - CHC1775T COSM71284 c.2735G>A p.G912E Substitution - Missense 23:53196932-53196932 - OSCC-GB_01060111 COSM4882639 c.4548C>A p.S1516R Substitution - Missense 23:53193102-53193102 - 001 COSM1161958 c.2062-2A>T p.? Unknown 23:53199160-53199160 - TCGA-BP-5000-01 COSM488457 c.2437C>T p.Q813* Substitution - Nonsense 23:53198569-53198569 - TCGA-AX-A0J1-01 COSM1599622 c.3874G>A p.A1292T Substitution - Missense 23:53194303-53194303 - TCGA-66-2791-01 COSM756951 c.1840G>T p.A614S Substitution - Missense 23:53201880-53201880 - MD-324 COSM302468 c.2764delC p.Q922fs*13 Deletion - Frameshift 23:53196903-53196903 - TCGA-A5-A0GW-01 COSM1599616 c.3642_3643delGT p.V1216fs*83 Deletion - Frameshift 23:53194534-53194535 - PDA_100 COSM1756613 c.1539G>T p.W513C Substitution - Missense 23:53210720-53210720 - PD6650a COSM3719987 c.1678C>A p.Q560K Substitution - Missense 23:53210482-53210482 - S10-24679-TP COSM4993551 c.4192C>T p.P1398S Substitution - Missense 23:53193562-53193562 - TCGA-BR-8078-01 COSM4110067 c.1134G>A p.R378R Substitution - coding silent 23:53211895-53211895 - EV001-R3 COSM1161911 c.4219delG p.D1407fs*5 Deletion - Frameshift 23:53193535-53193535 - S0078 COSM5885053 c.4652G>A p.C1551Y Substitution - Missense 23:53192998-53192998 - TCGA-A7-A56D-01 COSM3844999 c.3000C>T p.A1000A Substitution - coding silent 23:53196036-53196036 - PD4965a COSM5778374 c.1867-5C>A p.? Unknown 23:53201749-53201749 - PT51 COSM5938511 c.4190C>T p.A1397V Substitution - Missense 23:53193564-53193564 - SNU-175 COSM4650891 c.4375C>T p.R1459W Substitution - Missense 23:53193275-53193275 - 8035743 COSM1599606 c.2806C>T p.R936C Substitution - Missense 23:53196861-53196861 - ACINAR01 COSM1734848 c.592C>T p.R198* Substitution - Nonsense 23:53217208-53217208 - TCGA-D3-A51R-06 COSM3562273 c.4610C>T p.S1537L Substitution - Missense 23:53193040-53193040 - ATL046 COSM5711699 c.4441A>G p.R1481G Substitution - Missense 23:53193209-53193209 - PD2140a COSM27612 c.3664T>C p.S1222P Substitution - Missense 23:53194513-53194513 - SC_9034 COSM5561838 c.56C>A p.P19H Substitution - Missense 23:53224834-53224834 - TCGA-BH-A18G-01 COSM3844988 c.3881A>T p.Q1294L Substitution - Missense 23:53194296-53194296 - SC-her2-036 COSM77943 c.536G>A p.R179H Substitution - Missense 23:53217264-53217264 - TCGA-AM-5821-01 COSM3759524 c.564G>A p.K188K Substitution - coding silent 23:53217236-53217236 - TCGA-24-1549-01 COSM4947383 c.1928C>T p.S643F Substitution - Missense 23:53201683-53201683 - 259610 COSM3725462 c.4039-4G>A p.? Unknown 23:53193855-53193855 - TCGA-AK-3430-01 COSM3364141 c.3454G>A p.E1152K Substitution - Missense 23:53194723-53194723 - TCGA-60-2724-01 COSM756952 c.1937A>T p.E646V Substitution - Missense 23:53201674-53201674 - CHC1775T COSM4800942 c.2735G>A p.G912E Substitution - Missense 23:53196932-53196932 - TCGA-B0-4837-01 COSM3358406 c.4280_4283delAGCC p.Q1427fs*50 Deletion - Frameshift 23:53193471-53193474 - TCGA-EK-A2RO-01 COSM4848762 c.96G>C p.A32A Substitution - coding silent 23:53224794-53224794 - TCGA-DA-A1IC-06 COSM3562291 c.1048C>T p.H350Y Substitution - Missense 23:53214763-53214763 - TLE10 COSM4168317 c.151-1G>A p.? Unknown 23:53220917-53220917 - K29-Tumor COSM249215 c.142C>T p.P48S Substitution - Missense 23:53224748-53224748 - Gp2D COSM4629041 c.3410C>T p.A1137V Substitution - Missense 23:53194959-53194959 - SJHGG112_R COSM4969952 c.2332C>T p.R778* Substitution - Nonsense 23:53198800-53198800 - TCGA-EK-A3GK-01 COSM4853020 c.93C>T p.I31I Substitution - coding silent 23:53224797-53224797 - EV001-M1 COSM1161958 c.2062-2A>T p.? Unknown 23:53199160-53199160 - TCGA-B0-4816-01 COSM4856963 c.1606G>T p.G536W Substitution - Missense 23:53210554-53210554 - ccRCC-5 COSM1665530 c.2412delG p.R805fs*11 Deletion - Frameshift 23:53198594-53198594 - ESCC_31 COSM5627965 c.2150C>G p.S717* Substitution - Nonsense 23:53199070-53199070 - C0071T COSM4154976 c.1636G>A p.E546K Substitution - Missense 23:53210524-53210524 - TCGA-ER-A19D-06 COSM3562286 c.1360C>T p.P454S Substitution - Missense 23:53211538-53211538 - EV001-M2a COSM1161956 c.2062-2A>T p.? Unknown 23:53199160-53199160 - HCC107T COSM1625980 c.3160C>A p.L1054I Substitution - Missense 23:53195371-53195371 - tumor_4139696 COSM3357449 c.2721G>A p.R907R Substitution - coding silent 23:53196946-53196946 - TCGA-BH-A0BM-01 COSM457720 c.483T>G p.V161V Substitution - coding silent 23:53217835-53217835 - BK0092 COSM4189243 c.426_427insA p.Y143fs*23 Insertion - Frameshift 23:53217891-53217892 - SJHGG003_A COSM4968864 c.3497G>A p.R1166H Substitution - Missense 23:53194680-53194680 - TCGA-B2-5641-01 COSM3364163 c.357G>C p.V119V Substitution - coding silent 23:53217961-53217961 - MN-1047 COSM1578841 c.1726C>G p.L576V Substitution - Missense 23:53210434-53210434 - TCGA-AP-A059-01 COSM1122937 c.3546C>A p.S1182S Substitution - coding silent 23:53194631-53194631 - TCGA-BR-8361-01 COSM4110046 c.2475C>T p.C825C Substitution - coding silent 23:53198531-53198531 - 372 COSM1169563 c.2269C>T p.P757S Substitution - Missense 23:53198863-53198863 - EV001-R8 COSM1161912 c.4213G>C p.E1405Q Substitution - Missense 23:53193541-53193541 - TCGA-EB-A551-01 COSM3562283 c.2293G>A p.V765I Substitution - Missense 23:53198839-53198839 - C0074T COSM4154973 c.1787C>G p.T596S Substitution - Missense 23:53201933-53201933 - BK0046 COSM4187791 c.1747-1G>C p.? Unknown 23:53201974-53201974 - CCK81 COSM2967894 c.3765G>A p.L1255L Substitution - coding silent 23:53194412-53194412 - TCGA-BR-7707-01 COSM4110088 c.407G>A p.R136Q Substitution - Missense 23:53217911-53217911 - TCGA-B0-5698-01 COSM4858126 c.3329C>G p.S1110* Substitution - Nonsense 23:53195040-53195040 - TCGA-B0-5077-01 COSM488461 c.1775A>T p.E592V Substitution - Missense 23:53201945-53201945 - B89-4 COSM1756616 c.1538G>T p.W513L Substitution - Missense 23:53210721-53210721 - TCGA-HE-A5NH-01 COSM3992532 c.856A>G p.T286A Substitution - Missense 23:53215902-53215902 - EV001-M2b COSM1161958 c.2062-2A>T p.? Unknown 23:53199160-53199160 - TCGA-F5-6814-01 COSM3424852 c.259G>A p.D87N Substitution - Missense 23:53218368-53218368 - 3 COSM5732055 c.4423G>C p.E1475Q Substitution - Missense 23:53193227-53193227 - TCGA-24-1549-01 COSM75105 c.1928C>T p.S643F Substitution - Missense 23:53201683-53201683 - TCGA-A2-A0YK-01 COSM457717 c.2955G>A p.E985E Substitution - coding silent 23:53196712-53196712 - TCGA-BK-A0C9-01 COSM1155423 c.248T>C p.L83P Substitution - Missense 23:53218379-53218379 - I2L-P19Tb-Tumor-Organoid COSM5366727 c.589delC p.L197fs*37 Deletion - Frameshift 23:53217211-53217211 - TCGA-B0-4710-01 COSM3364050 c.4372C>T p.R1458W Substitution - Missense 23:53193278-53193278 - TCGA-60-2724-01 COSM1648302 c.1937A>T p.E646V Substitution - Missense 23:53201674-53201674 - TCGA-B0-4694-01 COSM3358420 c.1410_1413delTACC p.T471fs*5 Deletion - Frameshift 23:53210846-53210849 - TCGA-AP-A0LM-01 COSM1122935 c.3640G>A p.V1214M Substitution - Missense 23:53194537-53194537 - K218 COSM249564 c.179_180delTG p.V60fs*14 Deletion - Frameshift 23:53220887-53220888 - SC_9011 COSM5567719 c.860C>T p.S287L Substitution - Missense 23:53215898-53215898 - TCGA-AP-A059-01 COSM1599591 c.999G>A p.G333G Substitution - coding silent 23:53214812-53214812 - TCGA-B5-A11E-01 COSM1599604 c.2516G>T p.G839V Substitution - Missense 23:53198490-53198490 - 244 COSM1169516 c.464C>T p.S155F Substitution - Missense 23:53217854-53217854 - TCGA-BP-5202-01 COSM3358430 c.80delC p.P27fs*46 Deletion - Frameshift 23:53224810-53224810 - T3225 COSM4695024 c.2113C>T p.R705C Substitution - Missense 23:53199107-53199107 - BK0031 COSM4186903 c.845delA p.K282fs*17 Deletion - Frameshift 23:53215913-53215913 - TCGA-BP-5202-01 COSM3358428 c.80delC p.P27fs*46 Deletion - Frameshift 23:53224810-53224810 - PD3357a COSM30391 c.1935_1936GG>CT p.E645_E646>D* Complex - compound substitution 23:53201675-53201676 - EV001-R1 COSM1161911 c.4219delG p.D1407fs*5 Deletion - Frameshift 23:53193535-53193535 - PD4833a COSM5787662 c.3936C>A p.R1312R Substitution - coding silent 23:53194241-53194241 - TCGA-F5-6814-01 COSM3424853 c.259G>A p.D87N Substitution - Missense 23:53218368-53218368 - CML047T COSM5803018 c.4587G>A p.A1529A Substitution - coding silent 23:53193063-53193063 - TCGA-BR-4370-01 COSM4110056 c.1836C>T p.A612A Substitution - coding silent 23:53201884-53201884 - 8047856 COSM3390702 c.1601G>T p.W534L Substitution - Missense 23:53210559-53210559 - ESCC_BICR_015T COSM5433307 c.1006G>A p.D336N Substitution - Missense 23:53214805-53214805 - TCGA-AP-A051-01 COSM1122952 c.2138C>T p.T713M Substitution - Missense 23:53199082-53199082 - TCGA-BR-8081-01 COSM4110061 c.1218T>C p.A406A Substitution - coding silent 23:53211811-53211811 - ACINAR06 COSM1734843 c.1650G>T p.K550N Substitution - Missense 23:53210510-53210510 - TCGA-CJ-4871-01 COSM3358426 c.167_168delTT p.F56fs*18 Deletion - Frameshift 23:53220899-53220900 - TCGA-BR-A4CQ-01 COSM4110070 c.1122G>A p.A374A Substitution - coding silent 23:53214689-53214689 - SH-102782 COSM5021052 c.2292G>A p.K764K Substitution - coding silent 23:53198840-53198840 - TCGA-66-2791-01 COSM1648301 c.1840G>T p.A614S Substitution - Missense 23:53201880-53201880 - TCGA-G3-A5SK-01 COSM4927424 c.2267T>A p.L756H Substitution - Missense 23:53198865-53198865 - 587336 COSM1211787 c.1133G>T p.R378L Substitution - Missense 23:53211896-53211896 - 8047856 COSM3390701 c.1622C>T p.A541V Substitution - Missense 23:53210538-53210538 - TCGA-BR-4201-01 COSM4110052 c.2262T>C p.D754D Substitution - coding silent 23:53198870-53198870 - K185 COSM249275 c.1553A>G p.H518R Substitution - Missense 23:53210706-53210706 - U7 COSM1732146 c.1864T>C p.W622R Substitution - Missense 23:53201856-53201856 - 326 COSM1169520 c.1880G>C p.R627P Substitution - Missense 23:53201731-53201731 - TCGA-B5-A11E-01 COSM1599589 c.690T>C p.N230N Substitution - coding silent 23:53216165-53216165 - ESCC_BICR_027T COSM5443393 c.3964G>C p.E1322Q Substitution - Missense 23:53194213-53194213 - TCGA-04-1331-01 COSM71284 c.2735G>A p.G912E Substitution - Missense 23:53196932-53196932 - HCC118T COSM5813719 c.738G>T p.M246I Substitution - Missense 23:53216117-53216117 - TCGA-CD-A4MI-01 COSM4110038 c.3120+2T>C p.? Unknown 23:53195914-53195914 - TCGA-D3-A2JO-06 COSM3562292 c.714C>T p.I238I Substitution - coding silent 23:53216141-53216141 - TCGA-BR-6452-01 COSM4110071 c.957C>T p.A319A Substitution - coding silent 23:53215801-53215801 - TCGA-09-2056-01 COSM71283 c.4286C>T p.P1429L Substitution - Missense 23:53193468-53193468 - HCC111 COSM1625981 c.1861G>T p.D621Y Substitution - Missense 23:53201859-53201859 - TCGA-BR-4370-01 COSM4110058 c.1836C>T p.A612A Substitution - coding silent 23:53201884-53201884 - TCGA-19-1390-01 COSM3406466 c.1879C>T p.R627C Substitution - Missense 23:53201732-53201732 - TCGA-A8-A094-01 COSM4815598 c.1377A>C p.K459N Substitution - Missense 23:53211521-53211521 - pfg068T COSM4755392 c.773G>A p.R258Q Substitution - Missense 23:53216082-53216082 - TCGA-B5-A11R-01 COSM1599620 c.3869_3874delGCCGCG p.G1290_R1291delGR Deletion - In frame 23:53194303-53194308 - TCGA-G4-6588-01 COSM1468492 c.3177G>T p.R1059R Substitution - coding silent 23:53195354-53195354 - LUAD-NYU160 COSM370636 c.3635G>T p.R1212L Substitution - Missense 23:53194542-53194542 - TCGA-A8-A0A7-01 COSM1491067 c.3820G>A p.E1274K Substitution - Missense 23:53194357-53194357 - ccRCC-5 COSM1665532 c.2412delG p.R805fs*11 Deletion - Frameshift 23:53198594-53198594 - CRC-06T COSM5457495 c.2409G>A p.E803E Substitution - coding silent 23:53198597-53198597 - TCGA-BR-4361-01 COSM4110049 c.2416T>C p.F806L Substitution - Missense 23:53198590-53198590 - C0004T COSM4154979 c.958C>T p.Q320* Substitution - Nonsense 23:53215800-53215800 - 2492721 COSM5723303 c.2341C>T p.L781L Substitution - coding silent 23:53198791-53198791 - 53 COSM5734875 c.3940C>T p.R1314W Substitution - Missense 23:53194237-53194237 - TCGA-BP-5169-01 COSM488460 c.2189G>T p.C730F Substitution - Missense 23:53199031-53199031 - TCGA-B5-A11Y-01 COSM1122967 c.1104C>T p.C368C Substitution - coding silent 23:53214707-53214707 - TCGA-BH-A18G-01 COSM3844987 c.3883G>C p.A1295P Substitution - Missense 23:53194294-53194294 - K29 COSM249215 c.142C>T p.P48S Substitution - Missense 23:53224748-53224748 - TCGA-24-1434-01 COSM69188 c.1688_1689insT p.L564fs*58 Insertion - Frameshift 23:53210471-53210472 - K101 COSM249345 c.2206delG p.D736fs*28 Deletion - Frameshift 23:53199014-53199014 - Pat_41_B COSM5878031 c.2102C>T p.P701L Substitution - Missense 23:53199118-53199118 - HCC111 COSM1625983 c.1861G>T p.D621Y Substitution - Missense 23:53201859-53201859 - 2492729 COSM5729717 c.147C>T p.P49P Substitution - coding silent 23:53224743-53224743 - RK337_C01 COSM4943428 c.2733G>C p.L911L Substitution - coding silent 23:53196934-53196934 - ICGC_MB102 COSM3765019 c.632G>A p.R211Q Substitution - Missense 23:53217168-53217168 - 2492720 COSM5723305 c.2341C>T p.L781L Substitution - coding silent 23:53198791-53198791 - 2492721 COSM5723305 c.2341C>T p.L781L Substitution - coding silent 23:53198791-53198791 - 2368138 COSM5006565 c.?_?del? p.?fs*? Deletion - Frameshift CSCC-55-T COSM4566752 c.4635_4636CC>TT p.R1546W Substitution - Missense 23:53193014-53193015 - TCGA-BR-8081-01 COSM4110059 c.1218T>C p.A406A Substitution - coding silent 23:53211811-53211811 - TCGA-BP-5169-01 COSM4857018 c.2189G>T p.C730F Substitution - Missense 23:53199031-53199031 - TCGA-EY-A1GS-01 COSM1599595 c.1156G>C p.E386Q Substitution - Missense 23:53211873-53211873 - 587270 COSM1211777 c.1772G>A p.G591E Substitution - Missense 23:53201948-53201948 - T47D COSM1682620 c.2761C>G p.L921V Substitution - Missense 23:53196906-53196906 - TCGA-A2-A0CX-01 COSM4816049 c.2941G>A p.E981K Substitution - Missense 23:53196726-53196726 - PD3339a COSM30389 c.3148delG p.D1050fs*5 Deletion - Frameshift 23:53195383-53195383 - TCGA-BR-8078-01 COSM4110077 c.631C>T p.R211W Substitution - Missense 23:53217169-53217169 - T3079 COSM4695007 c.3934C>T p.R1312C Substitution - Missense 23:53194243-53194243 - TCGA-26-1442-01 COSM3406465 c.3493C>T p.R1165C Substitution - Missense 23:53194684-53194684 - TCGA-B0-4844-01 COSM3364144 c.2188T>C p.C730R Substitution - Missense 23:53199032-53199032 - HCC107 COSM1625978 c.3160C>A p.L1054I Substitution - Missense 23:53195371-53195371 - TCGA-B0-5698-01 COSM488456 c.3329C>G p.S1110* Substitution - Nonsense 23:53195040-53195040 - 2443930 COSM5413596 c.2890C>T p.P964S Substitution - Missense 23:53196777-53196777 - T3152 COSM4695027 c.634C>T p.R212W Substitution - Missense 23:53217166-53217166 - CSCC-6-T COSM4489883 c.3545C>T p.S1182F Substitution - Missense 23:53194632-53194632 - EV001-M2b COSM1161956 c.2062-2A>T p.? Unknown 23:53199160-53199160 - ATL073 COSM5711703 c.824A>G p.E275G Substitution - Missense 23:53215934-53215934 - TCGA-B2-5641-01 COSM3364161 c.357G>C p.V119V Substitution - coding silent 23:53217961-53217961 - 2492723 COSM5723305 c.2341C>T p.L781L Substitution - coding silent 23:53198791-53198791 - HN_63080 COSM123893 c.1006G>C p.D336H Substitution - Missense 23:53214805-53214805 - TCGA-AP-A051-01 COSM1599600 c.2138C>T p.T713M Substitution - Missense 23:53199082-53199082 - EV001-R9 COSM1161912 c.4213G>C p.E1405Q Substitution - Missense 23:53193541-53193541 - TCGA-BP-4342-01 COSM3364154 c.1938G>T p.E646D Substitution - Missense 23:53201673-53201673 - CSCC-55-T COSM4567649 c.805_806CC>TT p.P269F Substitution - Missense 23:53215952-53215953 - pfg068T COSM4755390 c.773G>A p.R258Q Substitution - Missense 23:53216082-53216082 - SWE-3B COSM1178389 c.3534G>T p.S1178S Substitution - coding silent 23:53194643-53194643 - TCGA-B5-A11Y-01 COSM1599593 c.1104C>T p.C368C Substitution - coding silent 23:53214707-53214707 - T47D COSM1682621 c.2758C>T p.Q920* Substitution - Nonsense 23:53196909-53196909 - ACINAR06 COSM1734845 c.1650G>T p.K550N Substitution - Missense 23:53210510-53210510 - sysucc-1317T COSM5450653 c.839A>T p.D280V Substitution - Missense 23:53215919-53215919 - HCC107T COSM1625978 c.3160C>A p.L1054I Substitution - Missense 23:53195371-53195371 - EWS502 COSM4589479 c.1764G>A p.Q588Q Substitution - coding silent 23:53201956-53201956 - pfg143T COSM4755389 c.1646T>G p.M549R Substitution - Missense 23:53210514-53210514 - EV001-R2 COSM1161909 c.4219delG p.D1407fs*5 Deletion - Frameshift 23:53193535-53193535 - TCGA-36-1575-01 COSM77943 c.536G>A p.R179H Substitution - Missense 23:53217264-53217264 - K126 COSM249455 c.4008_4009insA p.R1337fs*10 Insertion - Frameshift 23:53194168-53194169 - pfg143T COSM4755387 c.1646T>G p.M549R Substitution - Missense 23:53210514-53210514 - 2368111 COSM5006562 c.? p.T978I Substitution - Missense T2944 COSM4695021 c.2167G>A p.D723N Substitution - Missense 23:53199053-53199053 - Z13 COSM1732195 c.1104C>A p.C368* Substitution - Nonsense 23:53214707-53214707 - 252 COSM1169518 c.2273C>T p.A758V Substitution - Missense 23:53198859-53198859 - K295 COSM249273 c.388A>T p.K130* Substitution - Nonsense 23:53217930-53217930 - HCC112 COSM3708667 c.3868G>T p.G1290C Substitution - Missense 23:53194309-53194309 - K20-Tumor COSM249258 c.4270C>T p.Q1424* Substitution - Nonsense 23:53193484-53193484 - 587278 COSM1211786 c.1810G>A p.G604S Substitution - Missense 23:53201910-53201910 - HCC112 COSM3708665 c.3868G>T p.G1290C Substitution - Missense 23:53194309-53194309 - 298 COSM1169519 c.227A>G p.E76G Substitution - Missense 23:53220840-53220840 - TCGA-AP-A051-01 COSM1122939 c.3316G>A p.A1106T Substitution - Missense 23:53195053-53195053 - CSCC-31-T COSM3364049 c.4372C>T p.R1458W Substitution - Missense 23:53193278-53193278 - Pat_41_B COSM5878028 c.4421G>A p.R1474Q Substitution - Missense 23:53193229-53193229 - T2197 COSM4695016 c.2178C>T p.D726D Substitution - coding silent 23:53199042-53199042 - TCGA-A5-A0GW-01 COSM1122933 c.3642_3643delGT p.V1216fs*83 Deletion - Frameshift 23:53194534-53194535 - 1N36-VS-1T36 COSM4974971 c.472G>T p.E158* Substitution - Nonsense 23:53217846-53217846 - TCGA-FW-A3R5-06 COSM3914070 c.3447C>T p.A1149A Substitution - coding silent 23:53194730-53194730 - 336 COSM613037 c.2023C>T p.Q675* Substitution - Nonsense 23:53201588-53201588 - C0029T COSM1211784 c.1810G>A p.G604S Substitution - Missense 23:53201910-53201910 - TCGA-HU-8249-01 COSM4110064 c.1203C>T p.A401A Substitution - coding silent 23:53211826-53211826 - 8047856 COSM3390704 c.1601G>T p.W534L Substitution - Missense 23:53210559-53210559 - T368 COSM4695005 c.4665G>A p.P1555P Substitution - coding silent 23:53192985-53192985 - CSCC-10-T COSM1196156 c.938G>A p.R313Q Substitution - Missense 23:53215820-53215820 - TCGA-B5-A11R-01 COSM1122929 c.3869_3874delGCCGCG p.G1290_R1291delGR Deletion - In frame 23:53194303-53194308 - TCGA-GN-A269-01 COSM3562299 c.200C>T p.P67L Substitution - Missense 23:53220867-53220867 - Patient_5 COSM5414597 c.2248C>T p.R750W Substitution - Missense 23:53198884-53198884 - cSCCP8 COSM140896 c.4468G>T p.E1490* Substitution - Nonsense 23:53193182-53193182 - TCGA-CG-4443-01 COSM4110035 c.4489G>C p.E1497Q Substitution - Missense 23:53193161-53193161 - TCGA-B0-5106-01 COSM488464 c.1536C>G p.C512W Substitution - Missense 23:53210723-53210723 - TCGA-B0-4844-01 COSM3364146 c.2188T>C p.C730R Substitution - Missense 23:53199032-53199032 - LUAD-S01478 COSM404762 c.1546G>C p.E516Q Substitution - Missense 23:53210713-53210713 - LUAD-RT-S01721 COSM380717 c.3820G>A p.E1274K Substitution - Missense 23:53194357-53194357 - U2940 COSM5621087 c.3136C>T p.P1046S Substitution - Missense 23:53195395-53195395 - TCGA-G4-6293-01 COSM1468499 c.2005_2007delGAG p.E669delE Deletion - In frame 23:53201604-53201606 - CML047T COSM5803017 c.4587G>A p.A1529A Substitution - coding silent 23:53193063-53193063 - CSCC-31-T COSM3364050 c.4372C>T p.R1458W Substitution - Missense 23:53193278-53193278 - S10-24679-TP COSM4993548 c.4193C>T p.P1398L Substitution - Missense 23:53193561-53193561 - EV001-R8 COSM1161909 c.4219delG p.D1407fs*5 Deletion - Frameshift 23:53193535-53193535 - TCGA-CM-5863-01 COSM1468495 c.2949G>A p.W983* Substitution - Nonsense 23:53196718-53196718 - TCGA-B5-A11E-01 COSM1122943 c.3076C>T p.L1026F Substitution - Missense 23:53195960-53195960 - TCGA-B0-5106-01 COSM4856964 c.1536C>G p.C512W Substitution - Missense 23:53210723-53210723 - TCGA-DA-A1IC-06 COSM3562289 c.1048C>T p.H350Y Substitution - Missense 23:53214763-53214763 - TCGA-AP-A059-01 COSM1599612 c.3546C>A p.S1182S Substitution - coding silent 23:53194631-53194631 - ccRCC-14 COSM1665538 c.693_696delAGAG p.E232fs*1 Deletion - Frameshift 23:53216159-53216162 - TCGA-CW-5581-01 COSM3358408 c.4242_4252del11 p.D1414fs*54 Deletion - Frameshift 23:53193502-53193512 - RK337_C01 COSM4943430 c.2733G>C p.L911L Substitution - coding silent 23:53196934-53196934 - TCGA-CZ-5467-01 COSM488467 c.643A>T p.R215* Substitution - Nonsense 23:53217157-53217157 - TCGA-BR-8487-01 COSM4110076 c.861G>A p.S287S Substitution - coding silent 23:53215897-53215897 - C0029T COSM1211786 c.1810G>A p.G604S Substitution - Missense 23:53201910-53201910 - 545 COSM5611566 c.1920C>T p.C640C Substitution - coding silent 23:53201691-53201691 - TCGA-AM-5821-01 COSM3759526 c.564G>A p.K188K Substitution - coding silent 23:53217236-53217236 - OSCC-GB_01280111 COSM5954167 c.294C>T p.S98S Substitution - coding silent 23:53218333-53218333 - 2492720 COSM5723303 c.2341C>T p.L781L Substitution - coding silent 23:53198791-53198791 - K127 COSM249438 c.840_841insGATG p.V281fs*10 Insertion - Frameshift 23:53215917-53215918 - LUAD-NYU184 COSM370969 c.272A>T p.K91I Substitution - Missense 23:53218355-53218355 - TCGA-BR-8487-01 COSM4110074 c.861G>A p.S287S Substitution - coding silent 23:53215897-53215897 - ACINAR01 COSM1734846 c.592C>T p.R198* Substitution - Nonsense 23:53217208-53217208 - TCGA-B0-4837-01 COSM3358407 c.4280_4283delAGCC p.Q1427fs*50 Deletion - Frameshift 23:53193471-53193474 - TCGA-BS-A0UJ-01 COSM1599598 c.2109T>C p.D703D Substitution - coding silent 23:53199111-53199111 - TCGA-D1-A103-01 COSM1122975 c.276C>A p.F92L Substitution - Missense 23:53218351-53218351 - PD4954a COSM5778275 c.1570A>C p.N524H Substitution - Missense 23:53210689-53210689 - HCC118T COSM5813717 c.738G>T p.M246I Substitution - Missense 23:53216117-53216117 - S01728 COSM312108 c.1074G>C p.L358L Substitution - coding silent 23:53214737-53214737 - 2293744 COSM4609845 c.2438_2439delAG p.Q813fs*8 Deletion - Frameshift 23:53198567-53198568 - T3152 COSM4695025 c.634C>T p.R212W Substitution - Missense 23:53217166-53217166 - EGC3 COSM5064754 c.1508A>G p.Y503C Substitution - Missense 23:53210751-53210751 - TCGA-A7-A26E-01 COSM1491071 c.3227_3228insACC p.L1076_T1077insP Insertion - In frame 23:53195303-53195304 - TCGA-BG-A0MQ-01 COSM1122973 c.471C>T p.Y157Y Substitution - coding silent 23:53217847-53217847 - TCGA-A2-A0YK-01 COSM4812865 c.2955G>A p.E985E Substitution - coding silent 23:53196712-53196712 - SW48 COSM2967895 c.3668C>T p.P1223L Substitution - Missense 23:53194509-53194509 - TCGA-HU-8249-01 COSM4110062 c.1203C>T p.A401A Substitution - coding silent 23:53211826-53211826 - ESCC_BICR_027T COSM4695012 c.3826G>A p.E1276K Substitution - Missense 23:53194351-53194351 - T3174 COSM4695010 c.3826G>A p.E1276K Substitution - Missense 23:53194351-53194351 - H1155 COSM1196158 c.938G>A p.R313Q Substitution - Missense 23:53215820-53215820 - 53 COSM5734873 c.3940C>T p.R1314W Substitution - Missense 23:53194237-53194237 - APA15 COSM1717704 c.4231G>A p.V1411M Substitution - Missense 23:53193523-53193523 - TCGA-B2-5641-01 COSM3358425 c.365_371delAAGGTGG p.E122fs*14 Deletion - Frameshift 23:53217947-53217953 - K20-Tumor COSM4149621 c.4270C>T p.Q1424* Substitution - Nonsense 23:53193484-53193484 - EV001-R8 COSM1161914 c.4213G>C p.E1405Q Substitution - Missense 23:53193541-53193541 - ESO-717 COSM1242419 c.4247A>G p.N1416S Substitution - Missense 23:53193507-53193507 - TCGA-22-5485-01 COSM756953 c.2266C>A p.L756I Substitution - Missense 23:53198866-53198866 - TCGA-D3-A2JD-06 COSM3562295 c.692C>T p.P231L Substitution - Missense 23:53216163-53216163 - BRC18 COSM5028928 c.2090T>C p.F697S Substitution - Missense 23:53199130-53199130 - TCGA-D8-A1J8-01 COSM3844991 c.3319G>C p.D1107H Substitution - Missense 23:53195050-53195050 - PD3302a COSM30386 c.661G>T p.E221* Substitution - Nonsense 23:53216194-53216194 - PD4085a COSM4810359 c.2150C>T p.S717L Substitution - Missense 23:53199070-53199070 - BK0031 COSM4186906 c.703_704delAA p.K235fs*27 Deletion - Frameshift 23:53216151-53216152 - MN-1047 COSM1578843 c.1726C>G p.L576V Substitution - Missense 23:53210434-53210434 - 8035743 COSM1122945 c.2806C>T p.R936C Substitution - Missense 23:53196861-53196861 - BD236T COSM5485345 c.2783C>T p.A928V Substitution - Missense 23:53196884-53196884 - TCGA-FW-A3R5-06 COSM3914072 c.3447C>T p.A1149A Substitution - coding silent 23:53194730-53194730 - 587336 COSM1211789 c.1133G>T p.R378L Substitution - Missense 23:53211896-53211896 - S10-24679-TP COSM4993553 c.4192C>T p.P1398S Substitution - Missense 23:53193562-53193562 - 2218686 COSM4169850 c.? p.L1305fs*5 Unknown B89-4 COSM1756613 c.1539G>T p.W513C Substitution - Missense 23:53210720-53210720 - TCGA-BP-5190-01 COSM488459 c.2198A>C p.H733P Substitution - Missense 23:53199022-53199022 - TCGA-B5-A11E-01 COSM1599627 c.4451G>A p.S1484N Substitution - Missense 23:53193199-53193199 - TCGA-BR-8078-01 COSM4110065 c.1134G>A p.R378R Substitution - coding silent 23:53211895-53211895 - 001 COSM1161909 c.4219delG p.D1407fs*5 Deletion - Frameshift 23:53193535-53193535 - TCGA-BR-8078-01 COSM4110079 c.631C>T p.R211W Substitution - Missense 23:53217169-53217169 - TCGA-BR-8361-01 COSM4110082 c.487C>T p.P163S Substitution - Missense 23:53217831-53217831 - B89-4 COSM1756615 c.1539G>T p.W513C Substitution - Missense 23:53210720-53210720 - TCGA-AP-A051-01 COSM1599610 c.3316G>A p.A1106T Substitution - Missense 23:53195053-53195053 - TCGA-22-4601-01 COSM756946 c.202C>A p.R68R Substitution - coding silent 23:53220865-53220865 - TCGA-JL-A3YX-01 COSM5835981 c.3850_3851delAG p.R1284fs*15 Deletion - Frameshift 23:53194326-53194327 - PDA_100 COSM1756615 c.1539G>T p.W513C Substitution - Missense 23:53210720-53210720 - SNU-175 COSM4650890 c.4375C>T p.R1459W Substitution - Missense 23:53193275-53193275 - TCGA-EB-A551-01 COSM3562285 c.2293G>A p.V765I Substitution - Missense 23:53198839-53198839 - SC_9034 COSM5561840 c.56C>A p.P19H Substitution - Missense 23:53224834-53224834 - TCGA-B0-4694-01 COSM3358422 c.1410_1413delTACC p.T471fs*5 Deletion - Frameshift 23:53210846-53210849 - TCGA-BP-4803-01 COSM3364149 c.2143T>G p.F715V Substitution - Missense 23:53199077-53199077 - TCGA-ER-A2NG-06 COSM3562279 c.3792C>T p.A1264A Substitution - coding silent 23:53194385-53194385 - I2L-P19Tb-Tumor-Organoid COSM5366729 c.589delC p.L197fs*37 Deletion - Frameshift 23:53217211-53217211 - U2940 COSM5621092 c.760G>A p.D254N Substitution - Missense 23:53216095-53216095 - L7 COSM1732113 c.4649C>T p.P1550L Substitution - Missense 23:53193001-53193001 - TCGA-CG-4442-01 COSM4110041 c.2848A>G p.M950V Substitution - Missense 23:53196819-53196819 - TCGA-CG-4442-01 COSM4110055 c.1901G>A p.R634H Substitution - Missense 23:53201710-53201710 - TCGA-B5-A11E-01 COSM1122971 c.690T>C p.N230N Substitution - coding silent 23:53216165-53216165 - TCGA-D1-A17Q-01 COSM1599596 c.1720A>G p.N574D Substitution - Missense 23:53210440-53210440 - B89-4 COSM1756618 c.1538G>T p.W513L Substitution - Missense 23:53210721-53210721 - Gp2D COSM2967979 c.1674T>A p.D558E Substitution - Missense 23:53210486-53210486 - Z13 COSM1732197 c.1104C>A p.C368* Substitution - Nonsense 23:53214707-53214707 - EV001-R3 COSM1161912 c.4213G>C p.E1405Q Substitution - Missense 23:53193541-53193541 - TCGA-JL-A3YX-01 COSM5835979 c.3850_3851delAG p.R1284fs*15 Deletion - Frameshift 23:53194326-53194327 - Pat_24_A COSM4968864 c.3497G>A p.R1166H Substitution - Missense 23:53194680-53194680 - YUOTHO COSM5412836 c.1359C>T p.F453F Substitution - coding silent 23:53211539-53211539 - ccRCC-32 COSM1662407 c.1396G>T p.E466* Substitution - Nonsense 23:53211502-53211502 - BK0052 COSM4188109 c.1487G>C p.G496A Substitution - Missense 23:53210772-53210772 - TCGA-GN-A269-01 COSM3562298 c.200C>T p.P67L Substitution - Missense 23:53220867-53220867 - APA15 COSM1717702 c.4231G>A p.V1411M Substitution - Missense 23:53193523-53193523 - TCGA-BR-6452-01 COSM4110089 c.242T>C p.V81A Substitution - Missense 23:53218385-53218385 - U2940 COSM5621090 c.760G>A p.D254N Substitution - Missense 23:53216095-53216095 - BK0016 COSM4185988 c.2347G>T p.V783L Substitution - Missense 23:53198785-53198785 - C0074T COSM4154971 c.1787C>G p.T596S Substitution - Missense 23:53201933-53201933 - PDA_043 COSM4969950 c.2332C>T p.R778* Substitution - Nonsense 23:53198800-53198800 - HN_62426 COSM128304 c.2559C>T p.L853L Substitution - coding silent 23:53197834-53197834 - TCGA-D1-A17A-01 COSM756953 c.2266C>A p.L756I Substitution - Missense 23:53198866-53198866 - TCGA-CD-A4MI-01 COSM4110040 c.3120+2T>C p.? Unknown 23:53195914-53195914 - TCGA-AP-A059-01 COSM1122925 c.4255A>G p.I1419V Substitution - Missense 23:53193499-53193499 - TCGA-G3-A5SM-01 COSM4911234 c.509G>T p.G170V Substitution - Missense 23:53217809-53217809 - TCGA-AX-A0J1-01 COSM1599626 c.4304G>A p.R1435H Substitution - Missense 23:53193450-53193450 - TCGA-ER-A19D-06 COSM3562288 c.1360C>T p.P454S Substitution - Missense 23:53211538-53211538 - TCGA-D1-A103-01 COSM1599588 c.276C>A p.F92L Substitution - Missense 23:53218351-53218351 - TCGA-CG-4442-01 COSM4110053 c.1901G>A p.R634H Substitution - Missense 23:53201710-53201710 - EV001-R9 COSM1161914 c.4213G>C p.E1405Q Substitution - Missense 23:53193541-53193541 - EV001-R3 COSM1161914 c.4213G>C p.E1405Q Substitution - Missense 23:53193541-53193541 - TCGA-G3-A5SM-01 COSM4911232 c.509G>T p.G170V Substitution - Missense 23:53217809-53217809 - TCGA-BS-A0UL-01 COSM1122941 c.3158G>A p.G1053D Substitution - Missense 23:53195373-53195373 - TCGA-BR-4184-01 COSM4110085 c.476G>A p.R159H Substitution - Missense 23:53217842-53217842 - TCGA-A7-A26E-01 COSM1491069 c.3227_3228insACC p.L1076_T1077insP Insertion - In frame 23:53195303-53195304 - TCGA-HQ-A2OE-01 COSM1315581 c.331G>A p.D111N Substitution - Missense 23:53218296-53218296 - TCGA-AP-A059-01 COSM1122969 c.999G>A p.G333G Substitution - coding silent 23:53214812-53214812 - 587284 COSM1211791 c.1853G>A p.C618Y Substitution - Missense 23:53201867-53201867 - TCGA-G4-6293-01 COSM1468501 c.2005_2007delGAG p.E669delE Deletion - In frame 23:53201604-53201606 - HCT15 COSM4633092 c.3921G>A p.R1307R Substitution - coding silent 23:53194256-53194256 - 587278 COSM1211783 c.4357C>T p.R1453W Substitution - Missense 23:53193293-53193293 - TCGA-BS-A0UJ-01 COSM1122954 c.2109T>C p.D703D Substitution - coding silent 23:53199111-53199111 - 587222 COSM1211782 c.472G>A p.E158K Substitution - Missense 23:53217846-53217846 - SW48 COSM2967897 c.3668C>T p.P1223L Substitution - Missense 23:53194509-53194509 - CSCC-55-T COSM4566751 c.4635_4636CC>TT p.R1546W Substitution - Missense 23:53193014-53193015 - TCGA-E9-A1RH-01 COSM4816004 c.345C>T p.L115L Substitution - coding silent 23:53218282-53218282 - TCGA-DK-A3WW-01 COSM3800666 c.4351C>A p.R1451R Substitution - coding silent 23:53193299-53193299 - 001 COSM1161911 c.4219delG p.D1407fs*5 Deletion - Frameshift 23:53193535-53193535 - 587284 COSM1211793 c.1853G>A p.C618Y Substitution - Missense 23:53201867-53201867 - ccRCC-62 COSM1665535 c.1984delC p.L662fs*102 Deletion - Frameshift 23:53201627-53201627 - ZZUFHECRKL-G039T COSM5437778 c.3814C>G p.L1272V Substitution - Missense 23:53194363-53194363 - Z17 COSM1732203 c.351+1G>A p.? Unknown 23:53218275-53218275 - TCGA-D3-A2JD-06 COSM3562297 c.692C>T p.P231L Substitution - Missense 23:53216163-53216163 - BK0046 COSM4187789 c.1747-1G>C p.? Unknown 23:53201974-53201974 - CCK81 COSM2967892 c.3765G>A p.L1255L Substitution - coding silent 23:53194412-53194412 - BCM371T COSM4951676 c.4250A>G p.H1417R Substitution - Missense 23:53193504-53193504 - TCGA-D3-A2JO-06 COSM3562294 c.714C>T p.I238I Substitution - coding silent 23:53216141-53216141 - TCGA-D1-A103-01 COSM1122981 c.64G>A p.A22T Substitution - Missense 23:53224826-53224826 - C0019T COSM4154968 c.2755C>T p.Q919* Substitution - Nonsense 23:53196912-53196912 - BK0092 COSM4189245 c.426_427insA p.Y143fs*23 Insertion - Frameshift 23:53217891-53217892 - T2944 COSM4695019 c.2167G>A p.D723N Substitution - Missense 23:53199053-53199053 - SH-9161 COSM5020845 c.2280G>A p.L760L Substitution - coding silent 23:53198852-53198852 - T3174 COSM1732146 c.1864T>C p.W622R Substitution - Missense 23:53201856-53201856 - TCGA-B0-5094-01 COSM488458 c.2392G>T p.E798* Substitution - Nonsense 23:53198614-53198614 - CSCC-40-T COSM4490540 c.3657C>T p.L1219L Substitution - coding silent 23:53194520-53194520 - T3174 COSM4695012 c.3826G>A p.E1276K Substitution - Missense 23:53194351-53194351 - TCGA-AK-3458-01 COSM488465 c.963+2T>C p.? Unknown 23:53215793-53215793 - BK0016 COSM4185990 c.2347G>T p.V783L Substitution - Missense 23:53198785-53198785 - 545 COSM5611568 c.1920C>T p.C640C Substitution - coding silent 23:53201691-53201691 - Gp5D COSM2967981 c.1674T>A p.D558E Substitution - Missense 23:53210486-53210486 - TCGA-BR-8361-01 COSM4110044 c.2475C>T p.C825C Substitution - coding silent 23:53198531-53198531 - 8014187 COSM3390705 c.202C>T p.R68* Substitution - Nonsense 23:53220865-53220865 - TCGA-AP-A051-01 COSM1599587 c.230C>T p.A77V Substitution - Missense 23:53218397-53218397 - TCGA-BR-6452-01 COSM4110090 c.242T>C p.V81A Substitution - Missense 23:53218385-53218385 - TCGA-C5-A1MK-01 COSM4827147 c.2067C>T p.I689I Substitution - coding silent 23:53199153-53199153 - sysucc-834T COSM5485345 c.2783C>T p.A928V Substitution - Missense 23:53196884-53196884 - 2368118 COSM5006563 c.? p.V783E Substitution - Missense TCGA-EY-A1GS-01 COSM756948 c.1156G>C p.E386Q Substitution - Missense 23:53211873-53211873 - PAPZNK COSM5005309 c.3401G>A p.G1134E Substitution - Missense 23:53194968-53194968 - T3079 COSM4695009 c.3934C>T p.R1312C Substitution - Missense 23:53194243-53194243 - TCGA-EK-A3GK-01 COSM4853018 c.93C>T p.I31I Substitution - coding silent 23:53224797-53224797 - EV001-R9 COSM1161911 c.4219delG p.D1407fs*5 Deletion - Frameshift 23:53193535-53193535 - 587278 COSM1211784 c.1810G>A p.G604S Substitution - Missense 23:53201910-53201910 - PT51 COSM5938513 c.4190C>T p.A1397V Substitution - Missense 23:53193564-53193564 - BCM371T COSM4951674 c.4250A>G p.H1417R Substitution - Missense 23:53193504-53193504 - H1155 COSM1196156 c.938G>A p.R313Q Substitution - Missense 23:53215820-53215820 - TCGA-B5-A11E-01 COSM1599618 c.3691C>A p.P1231T Substitution - Missense 23:53194486-53194486 - CSCC-10-T COSM1196158 c.938G>A p.R313Q Substitution - Missense 23:53215820-53215820 - 38 COSM1169513 c.93delC p.I31fs*42 Deletion - Frameshift 23:53224797-53224797 - S01728 COSM312108 c.1074G>C p.L358L Substitution - coding silent 23:53214737-53214737 - 001 COSM1161912 c.4213G>C p.E1405Q Substitution - Missense 23:53193541-53193541 - EV001-R5 COSM1161912 c.4213G>C p.E1405Q Substitution - Missense 23:53193541-53193541 - Gp5D COSM2968010 c.819G>T p.V273V Substitution - coding silent 23:53215939-53215939 - Z17 COSM1732202 c.351+1G>A p.? Unknown 23:53218275-53218275 - 2492722 COSM5723305 c.2341C>T p.L781L Substitution - coding silent 23:53198791-53198791 - PD3293a COSM30387 c.807delC p.T270fs*2 Deletion - Frameshift 23:53215951-53215951 - OSCC-GB_01060111 COSM4882640 c.4548C>A p.S1516R Substitution - Missense 23:53193102-53193102 - 35M COSM5414597 c.2248C>T p.R750W Substitution - Missense 23:53198884-53198884 - TCGA-A8-A094-01 COSM457719 c.1377A>C p.K459N Substitution - Missense 23:53211521-53211521 - TCGA-AP-A051-01 COSM1122979 c.230C>T p.A77V Substitution - Missense 23:53218397-53218397 - SJHGG003_A COSM191436 c.3497G>A p.R1166H Substitution - Missense 23:53194680-53194680 - TCGA-D3-A51T-06 COSM3562275 c.4365G>A p.L1455L Substitution - coding silent 23:53193285-53193285 - BK0067 COSM4188542 c.2091delC p.F697fs*67 Deletion - Frameshift 23:53199129-53199129 - SC_9011 COSM5567721 c.860C>T p.S287L Substitution - Missense 23:53215898-53215898 - TCGA-AX-A0J1-01 COSM1122927 c.3874G>A p.A1292T Substitution - Missense 23:53194303-53194303 - TCGA-JX-A3Q0-01 COSM4824709 c.3847G>A p.E1283K Substitution - Missense 23:53194330-53194330 - 92 COSM30387 c.807delC p.T270fs*2 Deletion - Frameshift 23:53215951-53215951 - TCGA-24-1844-01 COSM1331807 c.1524_1532delCTCAGCCTT p.S509_F511delSAF Deletion - In frame 23:53210727-53210735 - TCGA-CG-4443-01 COSM4110034 c.4489G>C p.E1497Q Substitution - Missense 23:53193161-53193161 - CRC-06T COSM5457493 c.2409G>A p.E803E Substitution - coding silent 23:53198597-53198597 - Gp2D COSM4629039 c.3410C>T p.A1137V Substitution - Missense 23:53194959-53194959 - TCGA-BP-5189-01 COSM3358414 c.2962delC p.H988fs*18 Deletion - Frameshift 23:53196705-53196705 - LUAD-B02594 COSM356556 c.1494G>T p.K498N Substitution - Missense 23:53210765-53210765 - HCC112T COSM3708667 c.3868G>T p.G1290C Substitution - Missense 23:53194309-53194309 - EV001-R2 COSM1161912 c.4213G>C p.E1405Q Substitution - Missense 23:53193541-53193541 - TCGA-G4-6293-01 COSM1468516 c.1395A>T p.E465D Substitution - Missense 23:53211503-53211503 - TCGA-BH-A0BM-01 COSM1491075 c.483T>G p.V161V Substitution - coding silent 23:53217835-53217835 - T3152 COSM4695015 c.3825C>T p.G1275G Substitution - coding silent 23:53194352-53194352 - S02401 COSM5700092 c.229-1G>A p.? Unknown 23:53218399-53218399 - EV001-R8 COSM1161911 c.4219delG p.D1407fs*5 Deletion - Frameshift 23:53193535-53193535 - T3225 COSM4695022 c.2113C>T p.R705C Substitution - Missense 23:53199107-53199107 - TCGA-BP-4803-01 COSM3364147 c.2143T>G p.F715V Substitution - Missense 23:53199077-53199077 - TCGA-A7-A56D-01 COSM3844997 c.3000C>T p.A1000A Substitution - coding silent 23:53196036-53196036 - TCGA-G3-A5SK-01 COSM4927422 c.2267T>A p.L756H Substitution - Missense 23:53198865-53198865 - 13280 COSM5616336 c.3319G>A p.D1107N Substitution - Missense 23:53195050-53195050 - SH-9161 COSM5020847 c.2280G>A p.L760L Substitution - coding silent 23:53198852-53198852 - TCGA-CZ-5464-01 COSM488463 c.1586G>A p.G529D Substitution - Missense 23:53210574-53210574 - TCGA-B5-A11E-01 COSM1599608 c.3076C>T p.L1026F Substitution - Missense 23:53195960-53195960 - T2197 COSM4695018 c.2178C>T p.D726D Substitution - coding silent 23:53199042-53199042 - CHC1704T COSM5348737 c.3126_3127insTAGAATGGT p.G1042_D1043ins* Insertion - In frame 23:53195404-53195405 - TCGA-BR-8363-01 COSM4110037 c.4426G>A p.E1476K Substitution - Missense 23:53193224-53193224 - BK0031 COSM4186905 c.845delA p.K282fs*17 Deletion - Frameshift 23:53215913-53215913 - 2492729 COSM5729719 c.147C>T p.P49P Substitution - coding silent 23:53224743-53224743 - T47D COSM1682618 c.2761C>G p.L921V Substitution - Missense 23:53196906-53196906 - 587332 COSM488457 c.2437C>T p.Q813* Substitution - Nonsense 23:53198569-53198569 - CSCC-42-T COSM4547241 c.4187G>C p.R1396P Substitution - Missense 23:53193567-53193567 - ccRCC-32 COSM1662405 c.1396G>T p.E466* Substitution - Nonsense 23:53211502-53211502 - TCGA-AN-A0AK-01 COSM2967957 c.1988C>T p.A663V Substitution - Missense 23:53201623-53201623 - TCGA-B0-4828-01 COSM3364160 c.850G>T p.E284* Substitution - Nonsense 23:53215908-53215908 - EV001-R9 COSM1161909 c.4219delG p.D1407fs*5 Deletion - Frameshift 23:53193535-53193535 - BK0043 COSM4187630 c.1688T>C p.L563P Substitution - Missense 23:53210472-53210472 - PD3524a COSM30390 c.781+1_781+11delCGGAAGAAAGG p.? Unknown U7 COSM1732148 c.1864T>C p.W622R Substitution - Missense 23:53201856-53201856 - TCGA-DK-A3WW-01 COSM3800667 c.4351C>A p.R1451R Substitution - coding silent 23:53193299-53193299 - 214 COSM4424436 c.1327G>C p.D443H Substitution - Missense 23:53211571-53211571 - tumor_4139696 COSM3357447 c.2721G>A p.R907R Substitution - coding silent 23:53196946-53196946 - 246 COSM1169517 c.3187G>A p.V1063M Substitution - Missense 23:53195344-53195344 - TCGA-34-2608-01 COSM756948 c.1156G>C p.E386Q Substitution - Missense 23:53211873-53211873 - PD3289a COSM30339 c.3385_3386insT p.D1129fs*75 Insertion - Frameshift 23:53194983-53194984 - 2492723 COSM5723303 c.2341C>T p.L781L Substitution - coding silent 23:53198791-53198791 - SWE-3B COSM1178391 c.3534G>T p.S1178S Substitution - coding silent 23:53194643-53194643 - PD4085a COSM219390 c.2150C>T p.S717L Substitution - Missense 23:53199070-53199070 - 324 COSM1169520 c.1880G>C p.R627P Substitution - Missense 23:53201731-53201731 - YUPAER COSM5412831 c.3548C>T p.S1183F Substitution - Missense 23:53194629-53194629 - CSCC-42-T COSM4547239 c.4187G>C p.R1396P Substitution - Missense 23:53193567-53193567 - TCGA-A7-A26E-01 COSM3844994 c.3227T>C p.L1076P Substitution - Missense 23:53195304-53195304 - EV001-R5 COSM1161909 c.4219delG p.D1407fs*5 Deletion - Frameshift 23:53193535-53193535 - TCGA-D1-A17Q-01 COSM1122960 c.1720A>G p.N574D Substitution - Missense 23:53210440-53210440 - ATL046 COSM5711700 c.4441A>G p.R1481G Substitution - Missense 23:53193209-53193209 - SW620 COSM2967911 c.3436G>A p.V1146M Substitution - Missense 23:53194933-53194933 - T47D COSM1682623 c.2758C>T p.Q920* Substitution - Nonsense 23:53196909-53196909 - PD4833a COSM5787660 c.3936C>A p.R1312R Substitution - coding silent 23:53194241-53194241 - 2368137 COSM5006565 c.?_?del? p.?fs*? Deletion - Frameshift TCGA-BS-A0UF-01 COSM1599606 c.2806C>T p.R936C Substitution - Missense 23:53196861-53196861 - TCGA-D1-A103-01 COSM1599585 c.64G>A p.A22T Substitution - Missense 23:53224826-53224826 - TCGA-D1-A17R-01 COSM1122956 c.1771G>A p.G591R Substitution - Missense 23:53201949-53201949 - 334 COSM1169644 c.704_705insA p.L236fs*27 Insertion - Frameshift 23:53216150-53216151 - S02401 COSM5700093 c.229-1G>A p.? Unknown 23:53218399-53218399 - TCGA-BG-A0MQ-01 COSM1155421 c.471C>T p.Y157Y Substitution - coding silent 23:53217847-53217847 - TCGA-D1-A17R-01 COSM1155413 c.1771G>A p.G591R Substitution - Missense 23:53201949-53201949 - TCGA-B0-4718-01 COSM191438 c.2041C>T p.R681* Substitution - Nonsense 23:53201570-53201570 - ESCC_9 COSM5623705 c.4003C>A p.P1335T Substitution - Missense 23:53194174-53194174 - TCGA-24-1843-01 COSM1331808 c.4436delC p.P1479fs*65 Deletion - Frameshift 23:53193214-53193214 - 236 COSM1169643 c.2724_2725insG p.R909fs*9 Insertion - Frameshift 23:53196942-53196943 - TCGA-22-4601-01 COSM1151669 c.202C>A p.R68R Substitution - coding silent 23:53220865-53220865 - BCM371T COSM4951676 c.4250A>G p.H1417R Substitution - Missense 23:53193504-53193504 - TCGA-BS-A0UF-01 COSM1122945 c.2806C>T p.R936C Substitution - Missense 23:53196861-53196861 - S10-24679-TP COSM4993550 c.4193C>T p.P1398L Substitution - Missense 23:53193561-53193561 - PDA_043 COSM4969952 c.2332C>T p.R778* Substitution - Nonsense 23:53198800-53198800 - HCT15 COSM4633090 c.3921G>A p.R1307R Substitution - coding silent 23:53194256-53194256 - TCGA-B5-A11E-01 COSM1122921 c.4451G>A p.S1484N Substitution - Missense 23:53193199-53193199 - PAPZNK COSM5005311 c.3401G>A p.G1134E Substitution - Missense 23:53194968-53194968 - EV001-M2a COSM1161958 c.2062-2A>T p.? Unknown 23:53199160-53199160 - TCGA-B5-A0K6-01 COSM1122958 c.1737T>C p.H579H Substitution - coding silent 23:53210423-53210423 - TCGA-HQ-A2OE-01 COSM4811260 c.331G>A p.D111N Substitution - Missense 23:53218296-53218296 - EV001-R1 COSM1161912 c.4213G>C p.E1405Q Substitution - Missense 23:53193541-53193541 - TCGA-22-5485-01 COSM1155412 c.2266C>A p.L756I Substitution - Missense 23:53198866-53198866 - sysucc-2215T COSM5765615 c.3374T>C p.L1125S Substitution - Missense 23:53194995-53194995 - ESCC_31 COSM5627967 c.2150C>G p.S717* Substitution - Nonsense 23:53199070-53199070 - EV001-R1 COSM1161909 c.4219delG p.D1407fs*5 Deletion - Frameshift 23:53193535-53193535 - 587270 COSM1211775 c.1772G>A p.G591E Substitution - Missense 23:53201948-53201948 - 374 COSM1169564 c.1894C>T p.H632Y Substitution - Missense 23:53201717-53201717 - TCGA-19-1390-01 COSM3406468 c.1879C>T p.R627C Substitution - Missense 23:53201732-53201732 - TCGA-G4-6302-01 COSM3759522 c.4472A>G p.E1491G Substitution - Missense 23:53193178-53193178 - YUOTHO COSM5412834 c.1359C>T p.F453F Substitution - coding silent 23:53211539-53211539 - YUPAER COSM5412833 c.3548C>T p.S1183F Substitution - Missense 23:53194629-53194629 - ICGC_MB102 COSM3765021 c.632G>A p.R211Q Substitution - Missense 23:53217168-53217168 - EV001-R5 COSM1161914 c.4213G>C p.E1405Q Substitution - Missense 23:53193541-53193541 - C0004T COSM4154977 c.958C>T p.Q320* Substitution - Nonsense 23:53215800-53215800 - TCGA-B5-A0JY-01 COSM1122949 c.2296C>T p.R766W Substitution - Missense 23:53198836-53198836 - STC297 COSM5064751 c.3079G>A p.A1027T Substitution - Missense 23:53195957-53195957 - PD4954a COSM5778277 c.1570A>C p.N524H Substitution - Missense 23:53210689-53210689 - CSCC-55-T COSM4567647 c.805_806CC>TT p.P269F Substitution - Missense 23:53215952-53215953 - BK0029 COSM4186796 c.1614delC p.S539fs*10 Deletion - Frameshift 23:53210546-53210546 - TCGA-24-1844-01 COSM1331805 c.1524_1532delCTCAGCCTT p.S509_F511delSAF Deletion - In frame 23:53210727-53210735 - TCGA-24-1604-01 COSM116591 c.67G>C p.E23Q Substitution - Missense 23:53224823-53224823 - Pat_41_B COSM5878029 c.2102C>T p.P701L Substitution - Missense 23:53199118-53199118 - Gp2D COSM2967981 c.1674T>A p.D558E Substitution - Missense 23:53210486-53210486 - 8014187 COSM3390706 c.202C>T p.R68* Substitution - Nonsense 23:53220865-53220865 - 2492722 COSM5723303 c.2341C>T p.L781L Substitution - coding silent 23:53198791-53198791 - BCM371T COSM4951674 c.4250A>G p.H1417R Substitution - Missense 23:53193504-53193504 - TCGA-BH-A18G-01 COSM3844990 c.3881A>T p.Q1294L Substitution - Missense 23:53194296-53194296 - TCGA-26-1442-01 COSM3406463 c.3493C>T p.R1165C Substitution - Missense 23:53194684-53194684 - K20 COSM249258 c.4270C>T p.Q1424* Substitution - Nonsense 23:53193484-53193484 - ESCC_BICR_027T COSM5443391 c.3964G>C p.E1322Q Substitution - Missense 23:53194213-53194213 - TCGA-CW-5581-01 COSM3358410 c.4242_4252del11 p.D1414fs*54 Deletion - Frameshift 23:53193502-53193512 - HCC107 COSM1625980 c.3160C>A p.L1054I Substitution - Missense 23:53195371-53195371 - TCGA-A2-A0CX-01 COSM457718 c.2941G>A p.E981K Substitution - Missense 23:53196726-53196726 - 587222 COSM1211780 c.472G>A p.E158K Substitution - Missense 23:53217846-53217846 - CHEWS008 COSM1122973 c.471C>T p.Y157Y Substitution - coding silent 23:53217847-53217847 - 587316 COSM191435 c.3563G>C p.C1188S Substitution - Missense 23:53194614-53194614 - TCGA-HE-A5NH-01 COSM3992530 c.856A>G p.T286A Substitution - Missense 23:53215902-53215902 - TCGA-BR-4201-01 COSM4110050 c.2262T>C p.D754D Substitution - coding silent 23:53198870-53198870 - HCC112T COSM3708665 c.3868G>T p.G1290C Substitution - Missense 23:53194309-53194309 - PD2207a COSM28454 c.1933G>T p.E645* Substitution - Nonsense 23:53201678-53201678 - Gp5D COSM2968008 c.819G>T p.V273V Substitution - coding silent 23:53215939-53215939 - TCGA-D3-A51R-06 COSM3562274 c.4610C>T p.S1537L Substitution - Missense 23:53193040-53193040 - TCGA-G4-6588-01 COSM1468490 c.3177G>T p.R1059R Substitution - coding silent 23:53195354-53195354 - OSCC-GB_01280111 COSM5954166 c.294C>T p.S98S Substitution - coding silent 23:53218333-53218333 - TCGA-BR-A4CQ-01 COSM4110068 c.1122G>A p.A374A Substitution - coding silent 23:53214689-53214689 - ESO-717 COSM1242417 c.4247A>G p.N1416S Substitution - Missense 23:53193507-53193507 - ESCC_9 COSM5623703 c.4003C>A p.P1335T Substitution - Missense 23:53194174-53194174 - Pat_41_B COSM5878027 c.4421G>A p.R1474Q Substitution - Missense 23:53193229-53193229 - TCGA-B2-5641-01 COSM3358423 c.365_371delAAGGTGG p.E122fs*14 Deletion - Frameshift 23:53217947-53217953 - TCGA-BH-A18G-01 COSM3844985 c.3883G>C p.A1295P Substitution - Missense 23:53194294-53194294 - C0019T COSM4154970 c.2755C>T p.Q919* Substitution - Nonsense 23:53196912-53196912 - BK0031 COSM4186908 c.703_704delAA p.K235fs*27 Deletion - Frameshift 23:53216151-53216152 - TCGA-BP-5190-01 COSM4856941 c.2198A>C p.H733P Substitution - Missense 23:53199022-53199022 - SW620 COSM2967909 c.3436G>A p.V1146M Substitution - Missense 23:53194933-53194933 - BK0043 COSM4187632 c.1688T>C p.L563P Substitution - Missense 23:53210472-53210472 - U2940 COSM5621089 c.3136C>T p.P1046S Substitution - Missense 23:53195395-53195395 - sysucc-2215T COSM5765613 c.3374T>C p.L1125S Substitution - Missense 23:53194995-53194995 - TCGA-66-2755-01 COSM756947 c.503A>T p.Q168L Substitution - Missense 23:53217815-53217815 - TCGA-ER-A2NG-06 COSM3562277 c.3792C>T p.A1264A Substitution - coding silent 23:53194385-53194385 - TCGA-B0-4828-01 COSM3364158 c.850G>T p.E284* Substitution - Nonsense 23:53215908-53215908 - TCGA-BP-4351-01 COSM3358413 c.3391delG p.E1131fs*16 Deletion - Frameshift 23:53194978-53194978 - UM-SCC-17B COSM4598778 c.1596G>T p.K532N Substitution - Missense 23:53210564-53210564 - EGC3 COSM5064756 c.1508A>G p.Y503C Substitution - Missense 23:53210751-53210751 - CLL115 COSM1293026 c.3176G>T p.R1059L Substitution - Missense 23:53195355-53195355 - EV001-R2 COSM1161911 c.4219delG p.D1407fs*5 Deletion - Frameshift 23:53193535-53193535 - EV001-R5 COSM1161911 c.4219delG p.D1407fs*5 Deletion - Frameshift 23:53193535-53193535 - TCGA-BR-6452-01 COSM4110073 c.957C>T p.A319A Substitution - coding silent 23:53215801-53215801 - CSCC-6-T COSM4489881 c.3545C>T p.S1182F Substitution - Missense 23:53194632-53194632 - HCC2998 COSM2967943 c.2386G>A p.A796T Substitution - Missense 23:53198620-53198620 - HCC111T COSM1625981 c.1861G>T p.D621Y Substitution - Missense 23:53201859-53201859 - TCGA-JX-A3Q0-01 COSM4824711 c.3847G>A p.E1283K Substitution - Missense 23:53194330-53194330 - BRC18 COSM5028926 c.2090T>C p.F697S Substitution - Missense 23:53199130-53199130 - TCGA-A8-A0A7-01 COSM380717 c.3820G>A p.E1274K Substitution - Missense 23:53194357-53194357 - ESCC_BICR_027T COSM4695010 c.3826G>A p.E1276K Substitution - Missense 23:53194351-53194351 - TCGA-CM-6171-01 COSM1468508 c.1719C>A p.P573P Substitution - coding silent 23:53210441-53210441 - 35M COSM5414599 c.2248C>T p.R750W Substitution - Missense 23:53198884-53198884 - 214 COSM4424438 c.1327G>C p.D443H Substitution - Missense 23:53211571-53211571 - ESCC_BICR_015T COSM5433309 c.1006G>A p.D336N Substitution - Missense 23:53214805-53214805 - 2523548 COSM5881445 c.? p.C1247* Substitution - Nonsense TLE10 COSM4168318 c.151-1G>A p.? Unknown 23:53220917-53220917 - sysucc-834T COSM5485343 c.2783C>T p.A928V Substitution - Missense 23:53196884-53196884 - TCGA-BR-8363-01 COSM4110036 c.4426G>A p.E1476K Substitution - Missense 23:53193224-53193224 - PD3504a COSM30388 c.352-4_367del20 p.? Unknown 23:53217951-53217970 - C0071T COSM4154974 c.1636G>A p.E546K Substitution - Missense 23:53210524-53210524 - TCGA-AP-A059-01 COSM1599624 c.4255A>G p.I1419V Substitution - Missense 23:53193499-53193499 - TCGA-BR-4361-01 COSM4110047 c.2416T>C p.F806L Substitution - Missense 23:53198590-53198590 - TCGA-CM-6171-01 COSM1468510 c.1719C>A p.P573P Substitution - coding silent 23:53210441-53210441 - BK0052 COSM4188107 c.1487G>C p.G496A Substitution - Missense 23:53210772-53210772 - PD4085a COSM219390 c.2150C>T p.S717L Substitution - Missense 23:53199070-53199070 - CLL115 COSM1293024 c.3176G>T p.R1059L Substitution - Missense 23:53195355-53195355 - 230 COSM1169514 c.65C>T p.A22V Substitution - Missense 23:53224825-53224825 - 13280 COSM5616338 c.3319G>A p.D1107N Substitution - Missense 23:53195050-53195050 - TCGA-34-2608-01 COSM1599595 c.1156G>C p.E386Q Substitution - Missense 23:53211873-53211873 - 8047856 COSM3390699 c.1622C>T p.A541V Substitution - Missense 23:53210538-53210538 - 2293744 COSM4609843 c.2438_2439delAG p.Q813fs*8 Deletion - Frameshift 23:53198567-53198568 - TCGA-BR-8361-01 COSM4110080 c.487C>T p.P163S Substitution - Missense 23:53217831-53217831 - Patient_5 COSM5414599 c.2248C>T p.R750W Substitution - Missense 23:53198884-53198884 - TCGA-EK-A2RO-01 COSM4848764 c.96G>C p.A32A Substitution - coding silent 23:53224794-53224794 - TCGA-B0-5077-01 COSM4856999 c.1775A>T p.E592V Substitution - Missense 23:53201945-53201945 - S01728 COSM5670872 c.1074G>C p.L358L Substitution - coding silent 23:53214737-53214737 - K180 COSM191438 c.2041C>T p.R681* Substitution - Nonsense 23:53201570-53201570 - PTC_269 COSM5960522 c.3341A>G p.K1114R Substitution - Missense 23:53195028-53195028 - EV001-R1 COSM1161914 c.4213G>C p.E1405Q Substitution - Missense 23:53193541-53193541 - TCGA-BR-7707-01 COSM4110086 c.407G>A p.R136Q Substitution - Missense 23:53217911-53217911 - EWS502 COSM4589477 c.1764G>A p.Q588Q Substitution - coding silent 23:53201956-53201956 - TCGA-B5-A11E-01 COSM1122931 c.3691C>A p.P1231T Substitution - Missense 23:53194486-53194486 - TCGA-BG-A0LX-01 COSM1122964 c.1493A>G p.K498R Substitution - Missense 23:53210766-53210766 - TCGA-AA-3979-01 COSM297688 c.2662_2663insCC p.R888fs*48 Insertion - Frameshift 23:53197004-53197005 - TCGA-B5-A0JY-01 COSM1599602 c.2296C>T p.R766W Substitution - Missense 23:53198836-53198836 - 1N36-VS-1T36 COSM4974969 c.472G>T p.E158* Substitution - Nonsense 23:53217846-53217846 - TCGA-A7-A26E-01 COSM3844996 c.3227T>C p.L1076P Substitution - Missense 23:53195304-53195304 - sysucc-1317T COSM5450655 c.839A>T p.D280V Substitution - Missense 23:53215919-53215919 - 2368136 COSM5006565 c.?_?del? p.?fs*? Deletion - Frameshift ZZUFHECRKL-G039T COSM5437780 c.3814C>G p.L1272V Substitution - Missense 23:53194363-53194363 - 001 COSM1161914 c.4213G>C p.E1405Q Substitution - Missense 23:53193541-53193541 - EV001-M1 COSM1161956 c.2062-2A>T p.? Unknown 23:53199160-53199160 - TCGA-B0-4718-01 COSM3364150 c.2041C>T p.R681* Substitution - Nonsense 23:53201570-53201570 - TCGA-B0-4710-01 COSM3364049 c.4372C>T p.R1458W Substitution - Missense 23:53193278-53193278 - PD4965a COSM5778372 c.1867-5C>A p.? Unknown 23:53201749-53201749 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.631765;Hs.631768 Xp11.22-p11.21 314690

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AA - Frameshift p.F56Cfs*18 c.167_168delTT X 53250081 RCCC AC - Frameshift p.V1216Afs*83 c.3642_3643delGT X 53223716 UCEC A C Missense p.F715V c.2143T>G X 53228259 RCCC A C Synonymous p.V161V c.483T>G X 53247017 BRCA - A Frameshift p.E468Vfs*49 c.1402_1403insT X 53240038 HNSC - A Frameshift p.L564Pfs*58 c.1688dupT X 53239654 OV A G Missense p.C730R c.2188T>C X 53228214 RCCC A G Missense p.F697S c.2090T>C X 53228312 BRCA A G Missense p.V281A c.842T>C X 53245098 STAD A G SpliceDonorSNV . c.963+2T>C X 53244975 RCCC A G Synonymous p.D754D c.2262T>C X 53228052 STAD C A Missense p.A614S c.1840G>T X 53231062 LUSC C A Missense p.C730F c.2189G>T X 53228213 RCCC C A Missense p.E646D c.1938G>T X 53230855 RCCC C A Missense p.G505V c.1514G>T X 53239927 HNSC C A Missense p.G536W c.1606G>T X 53239736 RCCC C A Missense p.M506I c.1518G>T X 53239923 LUAD C A Missense p.R1059L c.3176G>T X 53224537 CLL C A Missense p.R1396L c.4187G>T X 53222749 CM C A Missense p.R313L c.938G>T X 53245002 STAD C A Nonsense p.E1154* c.3460G>T X 53223899 SCLC C A Nonsense p.E284* c.850G>T X 53245090 RCCC C A Nonsense p.E798* c.2392G>T X 53227796 RCCC CCACCTT - Frameshift p.E122Vfs*14 c.365_371delAAGGTGG X 53247129 RCCC - CCTGTCG Frameshift p.L1076Rfs*56 c.3226_3227insGACAGGC X 53224487 BRCA C - Frameshift p.E1131Sfs*16 c.3391delG X 53224160 RCCC C - Frameshift p.E293Rfs*6 c.877delG X 53245063 LUAD CGCGGC - InFrameDeletion p.G1290_R1291delGR c.3869_3874delGCCGCG X 53223485 UCEC C G Missense p.D336H c.1006G>C X 53243987 HNSC C G Missense p.E1497Q c.4489G>C X 53222343 STAD C G Missense p.E23Q c.67G>C X 53254005 OV C G Missense p.E386Q c.1156G>C X 53241055 LUSC C G Missense p.E386Q c.1156G>C X 53241055 UCEC C G Missense p.E676Q c.2026G>C X 53230767 BRCA C G Missense p.M251I c.753G>C X 53245284 LUAD C G Synonymous p.L358L c.1074G>C X 53243919 SCLC C G Synonymous p.V119V c.357G>C X 53247143 RCCC C T 5-UTRSNV . c.1-46G>A X 53254117 CM C T IntronicSNV . c.658-57G>A X 53245436 CM C T Missense p.D1107N c.3319G>A X 53224232 NSCLC C T Missense p.D111N c.331G>A X 53247478 BLCA C T Missense p.D337N c.1009G>A X 53243984 HNSC C T Missense p.E1152K c.3454G>A X 53223905 RCCC C T Missense p.E1274K c.3820G>A X 53223539 BRCA C T Missense p.E23K c.67G>A X 53254005 LUAD C T Missense p.E656K c.1966G>A X 53230827 LUAD C T Missense p.E981K c.2941G>A X 53225908 BRCA C T Missense p.G1053D c.3158G>A X 53224555 UCEC C T Missense p.G591R c.1771G>A X 53231131 UCEC C T Missense p.G912E c.2735G>A X 53226114 OV C T Missense p.R179H c.536G>A X 53246446 OV C T Missense p.R211Q c.632G>A X 53246350 MB C T Missense p.R585H c.1754G>A X 53231148 LUAD C T Synonymous p.E985E c.2955G>A X 53225894 BRCA C T Synonymous p.R1141R c.3423G>A X 53224128 CM G A IntronicSNV . c.2061+46C>T X 53230686 CM G A Missense p.H350Y c.1048C>T X 53243945 CM G A Missense p.P1429L c.4286C>T X 53222650 OV G A Missense p.P454S c.1360C>T X 53240720 CM G A Missense p.P67L c.200C>T X 53250049 CM G A Missense p.R1165C c.3493C>T X 53223866 GBM G A Missense p.R1218C c.3652C>T X 53223707 CM G A Missense p.R1458W c.4372C>T X 53222460 RCCC G A Missense p.R1483W c.4447C>T X 53222385 LUAD G A Missense p.R585C c.1753C>T X 53231149 BRCA G A Missense p.R585C c.1753C>T X 53231149 CM G A Missense p.R627C c.1879C>T X 53230914 GBM G A Missense p.S643F c.1928C>T X 53230865 OV G A Nonsense p.Q675* c.2023C>T X 53230770 LUAD G A Nonsense p.Q813* c.2437C>T X 53227751 RCCC G A Nonsense p.R681* c.2041C>T X 53230752 RCCC G A Nonsense p.R943* c.2827C>T X 53226022 BRCA G A Synonymous p.A1264A c.3792C>T X 53223567 CM G A Synonymous p.A612A c.1836C>T X 53231066 STAD G A Synonymous p.C368C c.1104C>T X 53243889 UCEC G A Synonymous p.F8F c.24C>T X 53254048 CM G A Synonymous p.I238I c.714C>T X 53245323 CM G A Synonymous p.L115L c.345C>T X 53247464 BRCA G A Synonymous p.L853L c.2559C>T X 53227016 HNSC G A Synonymous p.Y157Y c.471C>T X 53247029 UCEC G C Missense p.C512W c.1536C>G X 53239905 RCCC G C Missense p.H300D c.898C>G X 53245042 LUAD G C Nonsense p.S1110* c.3329C>G X 53224222 RCCC G C Synonymous p.L1220L c.3660C>G X 53223699 LUAD G - Frameshift p.H988Tfs*18 c.2962delC X 53225887 RCCC G - Frameshift p.P27Lfs*46 c.80delC X 53253992 RCCC GGCT - Frameshift p.Q1427Pfs*50 c.4280_4283delAGCC X 53222653 RCCC - GG Frameshift p.R888Pfs*48 c.2662_2663insCC X 53226187 COREAD GGTA - Frameshift p.T471Vfs*5 c.1410_1413delTACC X 53240028 RCCC - GGT InFrameInsertion p.V1075_L1076insH c.3226_3227insACC X 53224486 BRCA G - IntronicDeletion . c.1747-198delC X 53231353 CM G T Missense p.L756I c.2266C>A X 53228048 LUSC G T Synonymous p.R68R c.202C>A X 53250047 LUSC T A IntronicSNV . c.964-52A>T X 53244081 NSCLC T A Missense p.E592V c.1775A>T X 53231127 RCCC T A Missense p.E646V c.1937A>T X 53230856 LUSC T A Missense p.Q168L c.503A>T X 53246997 LUSC T A Nonsense p.K459* c.1375A>T X 53240705 RCCC T A Nonsense p.R215* c.643A>T X 53246339 RCCC T C Missense p.Y535C c.1604A>G X 53239738 LUAD T - Frameshift p.Q1020Rfs*35 c.3059delA X 53225159 LUAD T G Missense p.H733P c.2198A>C X 53228204 RCCC T G Missense p.I595L c.1783A>C X 53231119 STAD T G Missense p.K459N c.1377A>C X 53240703 BRCA T G Missense p.K874T c.2621A>C X 53226954 STAD TGTGGTTCTCA - Frameshift p.D1414Efs*54 c.4242_4252delTGAGAACCACA X 53222684 RCCC - T Nonsense p.Y639*fs*1 c.1916dupA X 53230877 RCCC