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 17 45199822 45199822 + Missense_Mutation SNP C C G TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr17:45199822C>G c.2380G>C c.(2380-2382)Gaa>Caa p.E794Q BLCA 17 45199920 45199920 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 g.chr17:45199920G>A c.2282C>T c.(2281-2283)tCt>tTt p.S761F BLCA 17 45209694 45209694 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr17:45209694C>A c.1960G>T c.(1960-1962)Gca>Tca p.A654S BLCA 17 45214642 45214642 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 g.chr17:45214642C>G c.1789G>C c.(1789-1791)Gat>Cat p.D597H BLCA 17 45214654 45214654 + Missense_Mutation SNP C C T TCGA-FJ-A3Z9-01A-11D-A26M-08 TCGA-FJ-A3Z9-10A-01D-A26K-08 g.chr17:45214654C>T c.1777G>A c.(1777-1779)Gct>Act p.A593T BLCA 17 45216198 45216198 + Silent SNP C C T TCGA-CF-A5U8-01A-11D-A289-08 TCGA-CF-A5U8-10A-01D-A289-08 g.chr17:45216198C>T c.1611G>A c.(1609-1611)gaG>gaA p.E537E BLCA 17 45219253 45219253 + Missense_Mutation SNP C C T TCGA-BT-A2LA-01A-11D-A18F-08 TCGA-BT-A2LA-11A-11D-A18F-08 g.chr17:45219253C>T c.1517G>A c.(1516-1518)gGa>gAa p.G506E BLCA 17 45219270 45219270 + Nonsense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 g.chr17:45219270C>T c.1500G>A c.(1498-1500)tgG>tgA p.W500* BLCA 17 45219284 45219284 + Missense_Mutation SNP A A G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 g.chr17:45219284A>G c.1486T>C c.(1486-1488)Tac>Cac p.Y496H BLCA 17 45229303 45229303 + Intron SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr17:45229303C>G BLCA 17 45232121 45232121 + Missense_Mutation SNP G G A TCGA-DK-AA74-01A-11D-A391-08 TCGA-DK-AA74-10A-01D-A394-08 g.chr17:45232121G>A c.874C>T c.(874-876)Cct>Tct p.P292S BLCA 17 45234401 45234401 + Silent SNP A A G TCGA-2F-A9KT-01A-11D-A38G-08 TCGA-2F-A9KT-10A-01D-A38J-08 g.chr17:45234401A>G c.720T>C c.(718-720)atT>atC p.I240I BLCA 17 45247377 45247377 + Nonsense_Mutation SNP C C A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 g.chr17:45247377C>A c.283G>T c.(283-285)Gga>Tga p.G95* BLCA 17 45247383 45247383 + Missense_Mutation SNP A A C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 g.chr17:45247383A>C c.277T>G c.(277-279)Tct>Gct p.S93A BLCA 17 45258931 45258931 + Missense_Mutation SNP C C T TCGA-XF-AAMR-01A-31D-A42E-08 TCGA-XF-AAMR-10A-01D-A42H-08 g.chr17:45258931C>T c.100G>A c.(100-102)Gaa>Aaa p.E34K BRCA 17 45201281 45201281 + Nonsense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr17:45201281C>A c.2206G>T c.(2206-2208)Gaa>Taa p.E736* BRCA 17 45214547 45214547 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr17:45214547G>A c.1884C>T c.(1882-1884)atC>atT p.I628I BRCA 17 45214685 45214685 + Silent SNP T T C TCGA-AC-A3TN-01A-11D-A228-09 TCGA-AC-A3TN-10A-01D-A22A-09 g.chr17:45214685T>C c.1746A>G c.(1744-1746)gaA>gaG p.E582E BRCA 17 45219239 45219239 + Missense_Mutation SNP C C T TCGA-BH-A0E7-01A-11W-A050-09 TCGA-BH-A0E7-10A-01W-A055-09 g.chr17:45219239C>T c.1531G>A c.(1531-1533)Gaa>Aaa p.E511K BRCA 17 45234484 45234484 + Missense_Mutation SNP T T C TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 g.chr17:45234484T>C c.637A>G c.(637-639)Aac>Gac p.N213D BRCA 17 45235659 45235659 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr17:45235659G>A c.388C>T c.(388-390)Cgg>Tgg p.R130W CESC 17 45214547 45214547 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr17:45214547G>C c.1884C>G c.(1882-1884)atC>atG p.I628M CESC 17 45219631 45219631 + Nonsense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr17:45219631G>A c.1342C>T c.(1342-1344)Cag>Tag p.Q448* CESC 17 45247376 45247376 + Missense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chr17:45247376C>A c.284G>T c.(283-285)gGa>gTa p.G95V CHOL 17 45232055 45232055 + Missense_Mutation SNP C C T TCGA-W5-AA2W-01A-11D-A417-09 TCGA-W5-AA2W-10A-01D-A41A-09 g.chr17:45232055C>T c.940G>A c.(940-942)Gga>Aga p.G314R CHOL 17 45234357 45234357 + Missense_Mutation SNP G G T TCGA-3X-AAV9-01A-72D-A417-09 TCGA-3X-AAV9-10A-01D-A41A-09 g.chr17:45234357G>T c.764C>A c.(763-765)tCt>tAt p.S255Y CHOL 17 45234625 45234625 + Missense_Mutation SNP C C T TCGA-W5-AA31-01A-11D-A417-09 TCGA-W5-AA31-10A-01D-A41A-09 g.chr17:45234625C>T c.601G>A c.(601-603)Gtt>Att p.V201I CHOL 17 45234708 45234708 + Missense_Mutation SNP A A G TCGA-W5-AA34-01A-11D-A417-09 TCGA-W5-AA34-10A-01D-A41A-09 g.chr17:45234708A>G c.518T>C c.(517-519)tTa>tCa p.L173S CHOL 17 45249328 45249328 + Missense_Mutation SNP G G A TCGA-YR-A95A-01A-12D-A417-09 TCGA-YR-A95A-10A-01D-A41A-09 g.chr17:45249328G>A c.206C>T c.(205-207)cCg>cTg p.P69L COAD 17 45199858 45199858 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:45199858G>A c.2344C>T c.(2344-2346)Cgt>Tgt p.R782C COAD 17 45201281 45201281 + Nonsense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:45201281C>A c.2206G>T c.(2206-2208)Gaa>Taa p.E736* COAD 17 45214636 45214636 + Missense_Mutation SNP T T C TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr17:45214636T>C c.1795A>G c.(1795-1797)Aat>Gat p.N599D COAD 17 45216112 45216112 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:45216112G>A c.1697C>T c.(1696-1698)tCg>tTg p.S566L COAD 17 45216162 45216162 + Missense_Mutation SNP A A C TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr17:45216162A>C c.1647T>G c.(1645-1647)gaT>gaG p.D549E COAD 17 45216162 45216162 + Missense_Mutation SNP A A C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr17:45216162A>C c.1647T>G c.(1645-1647)gaT>gaG p.D549E COAD 17 45216162 45216162 + Missense_Mutation SNP A A C TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr17:45216162A>C c.1647T>G c.(1645-1647)gaT>gaG p.D549E COAD 17 45216163 45216163 + Missense_Mutation SNP T T C TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr17:45216163T>C c.1646A>G c.(1645-1647)gAt>gGt p.D549G COAD 17 45219255 45219255 + Silent SNP A A G TCGA-AA-3561-01A-01W-0831-10 TCGA-AA-3561-10A-01W-0831-10 g.chr17:45219255A>G c.1515T>C c.(1513-1515)atT>atC p.I505I COAD 17 45219763 45219763 + Frame_Shift_Del DEL T T - TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr17:45219763delT c.1210delA c.(1210-1212)atcfs p.I404fs COAD 17 45234311 45234311 + Silent SNP T T C TCGA-CK-4947-01B-11D-1650-10 TCGA-CK-4947-10A-01D-1650-10 g.chr17:45234311T>C c.810A>G c.(808-810)ggA>ggG p.G270G COAD 17 45234311 45234311 + Silent SNP T T C TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr17:45234311T>C c.810A>G c.(808-810)ggA>ggG p.G270G COAD 17 45234411 45234411 + Nonsense_Mutation SNP G G T TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr17:45234411G>T c.710C>A c.(709-711)tCa>tAa p.S237* COAD 17 45234449 45234449 + Silent SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:45234449G>A c.672C>T c.(670-672)taC>taT p.Y224Y COAD 17 45234629 45234629 + Silent SNP C C T TCGA-AA-A01G-01A-01W-A005-10 TCGA-AA-A01G-10A-01W-A005-10 g.chr17:45234629C>T c.597G>A c.(595-597)gaG>gaA p.E199E COAD 17 45247325 45247325 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:45247325T>C c.335A>G c.(334-336)gAt>gGt p.D112G COAD 17 45249317 45249317 + Missense_Mutation SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr17:45249317A>G c.217T>C c.(217-219)Tac>Cac p.Y73H COAD 17 45249352 45249352 + Nonsense_Mutation SNP A A T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr17:45249352A>T c.182T>A c.(181-183)tTg>tAg p.L61* COAD 17 45249393 45249393 + Silent SNP A A G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr17:45249393A>G c.141T>C c.(139-141)tgT>tgC p.C47C COAD 17 45258949 45258949 + Missense_Mutation SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr17:45258949C>T c.82G>A c.(82-84)Gca>Aca p.A28T COAD 17 45258958 45258958 + Missense_Mutation SNP C C A TCGA-AD-6965-01A-11D-1924-10 TCGA-AD-6965-10A-01D-1924-10 g.chr17:45258958C>A c.73G>T c.(73-75)Gtt>Ttt p.V25F COADREAD 17 45199858 45199858 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:45199858G>A c.2344C>T c.(2344-2346)Cgt>Tgt p.R782C COADREAD 17 45201281 45201281 + Nonsense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:45201281C>A c.2206G>T c.(2206-2208)Gaa>Taa p.E736* COADREAD 17 45201281 45201281 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:45201281C>A c.2206G>T c.(2206-2208)Gaa>Taa p.E736* COADREAD 17 45206868 45206868 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:45206868T>G c.2051A>C c.(2050-2052)aAa>aCa p.K684T COADREAD 17 45214636 45214636 + Missense_Mutation SNP T T C TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr17:45214636T>C c.1795A>G c.(1795-1797)Aat>Gat p.N599D COADREAD 17 45214664 45214664 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:45214664G>T c.1767C>A c.(1765-1767)ttC>ttA p.F589L COADREAD 17 45216112 45216112 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr17:45216112G>A c.1697C>T c.(1696-1698)tCg>tTg p.S566L COADREAD 17 45216112 45216112 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:45216112G>A c.1697C>T c.(1696-1698)tCg>tTg p.S566L COADREAD 17 45216162 45216162 + Missense_Mutation SNP A A C TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr17:45216162A>C c.1647T>G c.(1645-1647)gaT>gaG p.D549E COADREAD 17 45216162 45216162 + Missense_Mutation SNP A A C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr17:45216162A>C c.1647T>G c.(1645-1647)gaT>gaG p.D549E COADREAD 17 45216162 45216162 + Missense_Mutation SNP A A C TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr17:45216162A>C c.1647T>G c.(1645-1647)gaT>gaG p.D549E COADREAD 17 45216163 45216163 + Missense_Mutation SNP T T C TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr17:45216163T>C c.1646A>G c.(1645-1647)gAt>gGt p.D549G COADREAD 17 45216210 45216210 + Silent SNP A A G TCGA-AG-3586-01A-02W-0831-10 TCGA-AG-3586-10A-01W-0831-10 g.chr17:45216210A>G c.1599T>C c.(1597-1599)gtT>gtC p.V533V COADREAD 17 45216216 45216216 + Silent SNP A A G TCGA-AG-3586-01A-02W-0831-10 TCGA-AG-3586-10A-01W-0831-10 g.chr17:45216216A>G c.1593T>C c.(1591-1593)taT>taC p.Y531Y COADREAD 17 45219255 45219255 + Silent SNP A A G TCGA-AA-3561-01A-01W-0831-10 TCGA-AA-3561-10A-01W-0831-10 g.chr17:45219255A>G c.1515T>C c.(1513-1515)atT>atC p.I505I COADREAD 17 45219763 45219763 + Frame_Shift_Del DEL T T - TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr17:45219763delT c.1210delA c.(1210-1212)atcfs p.I404fs COADREAD 17 45234311 45234311 + Silent SNP T T C TCGA-CK-4947-01B-11D-1650-10 TCGA-CK-4947-10A-01D-1650-10 g.chr17:45234311T>C c.810A>G c.(808-810)ggA>ggG p.G270G COADREAD 17 45234311 45234311 + Silent SNP T T C TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr17:45234311T>C c.810A>G c.(808-810)ggA>ggG p.G270G COADREAD 17 45234411 45234411 + Nonsense_Mutation SNP G G T TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr17:45234411G>T c.710C>A c.(709-711)tCa>tAa p.S237* COADREAD 17 45234449 45234449 + Silent SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:45234449G>A c.672C>T c.(670-672)taC>taT p.Y224Y COADREAD 17 45234629 45234629 + Silent SNP C C T TCGA-AA-A01G-01A-01W-A005-10 TCGA-AA-A01G-10A-01W-A005-10 g.chr17:45234629C>T c.597G>A c.(595-597)gaG>gaA p.E199E COADREAD 17 45247325 45247325 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:45247325T>C c.335A>G c.(334-336)gAt>gGt p.D112G COADREAD 17 45249317 45249317 + Missense_Mutation SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr17:45249317A>G c.217T>C c.(217-219)Tac>Cac p.Y73H COADREAD 17 45249352 45249352 + Nonsense_Mutation SNP A A T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr17:45249352A>T c.182T>A c.(181-183)tTg>tAg p.L61* COADREAD 17 45249393 45249393 + Silent SNP A A G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr17:45249393A>G c.141T>C c.(139-141)tgT>tgC p.C47C COADREAD 17 45258949 45258949 + Missense_Mutation SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr17:45258949C>T c.82G>A c.(82-84)Gca>Aca p.A28T COADREAD 17 45258958 45258958 + Missense_Mutation SNP C C A TCGA-AD-6965-01A-11D-1924-10 TCGA-AD-6965-10A-01D-1924-10 g.chr17:45258958C>A c.73G>T c.(73-75)Gtt>Ttt p.V25F DLBC 17 45216113 45216113 + Missense_Mutation SNP A A G TCGA-GR-A4D5-01A-11D-A31X-10 TCGA-GR-A4D5-10A-01D-A31X-10 g.chr17:45216113A>G c.1696T>C c.(1696-1698)Tcg>Ccg p.S566P DLBC 17 45234463 45234463 + Missense_Mutation SNP A A C TCGA-FF-8047-01A-11D-2210-10 TCGA-FF-8047-10A-01D-2210-10 g.chr17:45234463A>C c.658T>G c.(658-660)Tcc>Gcc p.S220A ESCA 17 45199823 45199823 + Silent SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 g.chr17:45199823T>C c.2379A>G c.(2377-2379)caA>caG p.Q793Q ESCA 17 45209685 45209685 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr17:45209685G>T c.1969C>A c.(1969-1971)Cat>Aat p.H657N ESCA 17 45214617 45214617 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 g.chr17:45214617G>T c.1814C>A c.(1813-1815)aCt>aAt p.T605N ESCA 17 45214646 45214646 + Silent SNP T T C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 g.chr17:45214646T>C c.1785A>G c.(1783-1785)caA>caG p.Q595Q ESCA 17 45216210 45216210 + Silent SNP A A C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 g.chr17:45216210A>C c.1599T>G c.(1597-1599)gtT>gtG p.V533V ESCA 17 45216210 45216210 + Silent SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 g.chr17:45216210A>C c.1599T>G c.(1597-1599)gtT>gtG p.V533V ESCA 17 45234325 45234325 + Nonsense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr17:45234325G>A c.796C>T c.(796-798)Cga>Tga p.R266* ESCA 17 45234372 45234372 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 g.chr17:45234372C>T c.749G>A c.(748-750)gGa>gAa p.G250E ESCA 17 45235625 45235625 + Missense_Mutation SNP C C G TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 g.chr17:45235625C>G c.422G>C c.(421-423)aGc>aCc p.S141T ESCA 17 45247389 45247389 + Missense_Mutation SNP T T A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 g.chr17:45247389T>A c.271A>T c.(271-273)Atc>Ttc p.I91F ESCA 17 45249404 45249404 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 g.chr17:45249404G>T c.130C>A c.(130-132)Ctg>Atg p.L44M GBM 17 45247352 45247352 + Missense_Mutation SNP T T C TCGA-41-3393-01A-01D-1353-08 TCGA-41-3393-10A-01D-1353-08 g.chr17:45247352T>C c.308A>G c.(307-309)cAt>cGt p.H103R GBMLGG 17 45199936 45199936 + Missense_Mutation SNP C C T TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 g.chr17:45199936C>T c.2266G>A c.(2266-2268)Gcc>Acc p.A756T GBMLGG 17 45214654 45214654 + Missense_Mutation SNP C C T TCGA-WH-A86K-01A-11D-A36O-08 TCGA-WH-A86K-10A-01D-A367-08 g.chr17:45214654C>T c.1777G>A c.(1777-1779)Gct>Act p.A593T GBMLGG 17 45216210 45216210 + Silent SNP A A C TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 g.chr17:45216210A>C c.1599T>G c.(1597-1599)gtT>gtG p.V533V GBMLGG 17 45216210 45216210 + Silent SNP A A C TCGA-S9-A7R7-01A-11D-A34J-08 TCGA-S9-A7R7-10A-01D-A34M-08 g.chr17:45216210A>C c.1599T>G c.(1597-1599)gtT>gtG p.V533V GBMLGG 17 45216218 45216218 + Missense_Mutation SNP A A G TCGA-S9-A7R7-01A-11D-A34J-08 TCGA-S9-A7R7-10A-01D-A34M-08 g.chr17:45216218A>G c.1591T>C c.(1591-1593)Tat>Cat p.Y531H GBMLGG 17 45232100 45232100 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:45232100G>A c.895C>T c.(895-897)Caa>Taa p.Q299* GBMLGG 17 45234392 45234392 + Silent SNP A A G TCGA-TM-A7C4-01A-11D-A32B-08 TCGA-TM-A7C4-10A-01D-A329-08 g.chr17:45234392A>G c.729T>C c.(727-729)gaT>gaC p.D243D GBMLGG 17 45247352 45247352 + Missense_Mutation SNP T T C TCGA-41-3393-01A-01D-1353-08 TCGA-41-3393-10A-01D-1353-08 g.chr17:45247352T>C c.308A>G c.(307-309)cAt>cGt p.H103R HNSC 17 45198318 45198318 + Missense_Mutation SNP C C T TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr17:45198318C>T c.2458G>A c.(2458-2460)Gaa>Aaa p.E820K HNSC 17 45214545 45214545 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr17:45214545C>T c.1886G>A c.(1885-1887)aGa>aAa p.R629K HNSC 17 45216151 45216151 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr17:45216151G>A c.1658C>T c.(1657-1659)tCa>tTa p.S553L HNSC 17 45219268 45219268 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr17:45219268A>G c.1502T>C c.(1501-1503)gTa>gCa p.V501A HNSC 17 45219297 45219297 + Silent SNP T T G TCGA-CV-7248-01A-11D-2012-08 TCGA-CV-7248-10A-01D-2013-08 g.chr17:45219297T>G c.1473A>C c.(1471-1473)ctA>ctC p.L491L HNSC 17 45229206 45229206 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 g.chr17:45229206G>A c.1036C>T c.(1036-1038)Ctt>Ttt p.L346F HNSC 17 45234324 45234324 + Missense_Mutation SNP C C T TCGA-P3-A6SX-01A-11D-A34J-08 TCGA-P3-A6SX-10A-01D-A34M-08 g.chr17:45234324C>T c.797G>A c.(796-798)cGa>cAa p.R266Q HNSC 17 45234324 45234324 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 g.chr17:45234324C>T c.797G>A c.(796-798)cGa>cAa p.R266Q HNSC 17 45234385 45234385 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr17:45234385G>A c.736C>T c.(736-738)Cca>Tca p.P246S HNSC 17 45234475 45234475 + Missense_Mutation SNP T T G TCGA-UF-A718-01A-22D-A34J-08 TCGA-UF-A718-10A-01D-A34M-08 g.chr17:45234475T>G c.646A>C c.(646-648)Aat>Cat p.N216H HNSC 17 45235606 45235606 + Silent SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 g.chr17:45235606G>A c.441C>T c.(439-441)ttC>ttT p.F147F KICH 17 45214527 45214527 + Missense_Mutation SNP T T C TCGA-KN-8435-01A-11D-2310-10 TCGA-KN-8435-11A-01D-2311-10 g.chr17:45214527T>C c.1904A>G c.(1903-1905)tAt>tGt p.Y635C KICH 17 45219669 45219669 + Missense_Mutation SNP G G A TCGA-KM-8438-01A-11D-2310-10 TCGA-KM-8438-10A-01D-2311-10 g.chr17:45219669G>A c.1304C>T c.(1303-1305)tCc>tTc p.S435F KICH 17 45232055 45232055 + Missense_Mutation SNP C C T TCGA-KL-8324-01A-11D-2310-10 TCGA-KL-8324-11A-01D-2310-10 g.chr17:45232055C>T c.940G>A c.(940-942)Gga>Aga p.G314R KICH 17 45234325 45234325 + Nonsense_Mutation SNP G G A TCGA-KO-8404-01A-11D-2310-10 TCGA-KO-8404-11A-01D-2311-10 g.chr17:45234325G>A c.796C>T c.(796-798)Cga>Tga p.R266* KICH 17 45234432 45234432 + Missense_Mutation SNP G G T TCGA-KO-8409-01A-11D-2310-10 TCGA-KO-8409-11A-01D-2311-10 g.chr17:45234432G>T c.689C>A c.(688-690)tCc>tAc p.S230Y KICH 17 45234625 45234625 + Missense_Mutation SNP C C T TCGA-KO-8404-01A-11D-2310-10 TCGA-KO-8404-11A-01D-2311-10 g.chr17:45234625C>T c.601G>A c.(601-603)Gtt>Att p.V201I KICH 17 45234650 45234650 + Silent SNP A A G TCGA-KO-8408-01A-11D-2310-10 TCGA-KO-8408-11A-01D-2311-10 g.chr17:45234650A>G c.576T>C c.(574-576)agT>agC p.S192S KICH 17 45234664 45234664 + Missense_Mutation SNP C C T TCGA-KO-8414-01A-11D-2310-10 TCGA-KO-8414-11A-01D-2311-10 g.chr17:45234664C>T c.562G>A c.(562-564)Gta>Ata p.V188I KIPAN 17 45214527 45214527 + Missense_Mutation SNP T T C TCGA-KN-8435-01A-11D-2310-10 TCGA-KN-8435-11A-01D-2311-10 g.chr17:45214527T>C c.1904A>G c.(1903-1905)tAt>tGt p.Y635C KIPAN 17 45214536 45214536 + Missense_Mutation SNP G G T TCGA-A4-A4ZT-01A-11D-A26P-10 TCGA-A4-A4ZT-10A-01D-A26P-10 g.chr17:45214536G>T c.1895C>A c.(1894-1896)cCt>cAt p.P632H KIPAN 17 45219300 45219300 + Missense_Mutation SNP A A T TCGA-B0-5096-01A-01D-1421-08 TCGA-B0-5096-11A-01D-1421-08 g.chr17:45219300A>T c.1470T>A c.(1468-1470)caT>caA p.H490Q KIPAN 17 45219669 45219669 + Missense_Mutation SNP G G A TCGA-KM-8438-01A-11D-2310-10 TCGA-KM-8438-10A-01D-2311-10 g.chr17:45219669G>A c.1304C>T c.(1303-1305)tCc>tTc p.S435F KIPAN 17 45232055 45232055 + Missense_Mutation SNP C C T TCGA-KL-8324-01A-11D-2310-10 TCGA-KL-8324-11A-01D-2310-10 g.chr17:45232055C>T c.940G>A c.(940-942)Gga>Aga p.G314R KIPAN 17 45234325 45234325 + Nonsense_Mutation SNP G G A TCGA-KO-8404-01A-11D-2310-10 TCGA-KO-8404-11A-01D-2311-10 g.chr17:45234325G>A c.796C>T c.(796-798)Cga>Tga p.R266* KIPAN 17 45234432 45234432 + Missense_Mutation SNP G G T TCGA-KO-8409-01A-11D-2310-10 TCGA-KO-8409-11A-01D-2311-10 g.chr17:45234432G>T c.689C>A c.(688-690)tCc>tAc p.S230Y KIPAN 17 45234625 45234625 + Missense_Mutation SNP C C T TCGA-KO-8404-01A-11D-2310-10 TCGA-KO-8404-11A-01D-2311-10 g.chr17:45234625C>T c.601G>A c.(601-603)Gtt>Att p.V201I KIPAN 17 45234650 45234650 + Silent SNP A A G TCGA-KO-8408-01A-11D-2310-10 TCGA-KO-8408-11A-01D-2311-10 g.chr17:45234650A>G c.576T>C c.(574-576)agT>agC p.S192S KIPAN 17 45234664 45234664 + Missense_Mutation SNP C C T TCGA-KO-8414-01A-11D-2310-10 TCGA-KO-8414-11A-01D-2311-10 g.chr17:45234664C>T c.562G>A c.(562-564)Gta>Ata p.V188I KIPAN 17 45249350 45249350 + Missense_Mutation SNP T T C TCGA-AL-3467-01A-01D-1252-08 TCGA-AL-3467-10A-01D-1252-08 g.chr17:45249350T>C c.184A>G c.(184-186)Aaa>Gaa p.K62E KIRC 17 45219300 45219300 + Missense_Mutation SNP A A T TCGA-B0-5096-01A-01D-1421-08 TCGA-B0-5096-11A-01D-1421-08 g.chr17:45219300A>T c.1470T>A c.(1468-1470)caT>caA p.H490Q KIRP 17 45214536 45214536 + Missense_Mutation SNP G G T TCGA-A4-A4ZT-01A-11D-A26P-10 TCGA-A4-A4ZT-10A-01D-A26P-10 g.chr17:45214536G>T c.1895C>A c.(1894-1896)cCt>cAt p.P632H KIRP 17 45249350 45249350 + Missense_Mutation SNP T T C TCGA-AL-3467-01A-01D-1252-08 TCGA-AL-3467-10A-01D-1252-08 g.chr17:45249350T>C c.184A>G c.(184-186)Aaa>Gaa p.K62E LGG 17 45199936 45199936 + Missense_Mutation SNP C C T TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 g.chr17:45199936C>T c.2266G>A c.(2266-2268)Gcc>Acc p.A756T LGG 17 45214654 45214654 + Missense_Mutation SNP C C T TCGA-WH-A86K-01A-11D-A36O-08 TCGA-WH-A86K-10A-01D-A367-08 g.chr17:45214654C>T c.1777G>A c.(1777-1779)Gct>Act p.A593T LGG 17 45216210 45216210 + Silent SNP A A C TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 g.chr17:45216210A>C c.1599T>G c.(1597-1599)gtT>gtG p.V533V LGG 17 45216210 45216210 + Silent SNP A A C TCGA-S9-A7R7-01A-11D-A34J-08 TCGA-S9-A7R7-10A-01D-A34M-08 g.chr17:45216210A>C c.1599T>G c.(1597-1599)gtT>gtG p.V533V LGG 17 45216218 45216218 + Missense_Mutation SNP A A G TCGA-S9-A7R7-01A-11D-A34J-08 TCGA-S9-A7R7-10A-01D-A34M-08 g.chr17:45216218A>G c.1591T>C c.(1591-1593)Tat>Cat p.Y531H LGG 17 45232100 45232100 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:45232100G>A c.895C>T c.(895-897)Caa>Taa p.Q299* LGG 17 45234392 45234392 + Silent SNP A A G TCGA-TM-A7C4-01A-11D-A32B-08 TCGA-TM-A7C4-10A-01D-A329-08 g.chr17:45234392A>G c.729T>C c.(727-729)gaT>gaC p.D243D LIHC 17 45209674 45209674 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr17:45209674delT c.1980delA c.(1978-1980)aaafs p.K660fs LIHC 17 45216246 45216246 + Missense_Mutation SNP T T C TCGA-2Y-A9GX-01A-11D-A382-10 TCGA-2Y-A9GX-10A-01D-A385-10 g.chr17:45216246T>C c.1563A>G c.(1561-1563)atA>atG p.I521M LIHC 17 45219595 45219595 + Splice_Site SNP C C A TCGA-DD-AADR-01A-11D-A40R-10 TCGA-DD-AADR-10A-01D-A40U-10 g.chr17:45219595C>A c.1378G>T c.(1378-1380)Gaa>Taa p.E460* LIHC 17 45232068 45232068 + Silent SNP A A G TCGA-BD-A3EP-01A-11D-A22F-10 TCGA-BD-A3EP-11A-12D-A22F-10 g.chr17:45232068A>G c.927T>C c.(925-927)gaT>gaC p.D309D LIHC 17 45234463 45234463 + Missense_Mutation SNP A A C TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr17:45234463A>C c.658T>G c.(658-660)Tcc>Gcc p.S220A LIHC 17 45234594 45234729 + Splice_Site DEL CTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT CTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT - TCGA-BC-4073-01B-02D-A12Z-10 TCGA-BC-4073-10A-01D-A12Z-10 g.chr17:45234594_45234729delCTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT c.497_631delAGTTCTTACGGAAACACCCCAGGACACAATTGTAAGTGTCTTATATTCTAGTGTTCAAAATATTATGAAAACTACAAAGAATGATCTGAACTAAATAATATATTGTGAATGACTTGGTAGAAATTTTCTGTTTCAG c.(496-633)cagttcttacggaaacaccccaggacacaattgtaagtgtcttatattctagtgttcaaaatattatgaaaactacaaagaatgatctgaactaaataatatattgtgaatgacttggtagaaattttctgtttcaga>cga p.QFLRKHPRTQL*VSYILVFKIL*KLQRMI*TK*YIVNDLVEIFCF166fs LIHC 17 45234594 45234729 + Splice_Site DEL CTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT CTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT - TCGA-DD-A116-01A-11D-A12Z-10 TCGA-DD-A116-10A-01D-A12Z-10 g.chr17:45234594_45234729delCTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT c.497_631delAGTTCTTACGGAAACACCCCAGGACACAATTGTAAGTGTCTTATATTCTAGTGTTCAAAATATTATGAAAACTACAAAGAATGATCTGAACTAAATAATATATTGTGAATGACTTGGTAGAAATTTTCTGTTTCAG c.(496-633)cagttcttacggaaacaccccaggacacaattgtaagtgtcttatattctagtgttcaaaatattatgaaaactacaaagaatgatctgaactaaataatatattgtgaatgacttggtagaaattttctgtttcaga>cga p.QFLRKHPRTQL*VSYILVFKIL*KLQRMI*TK*YIVNDLVEIFCF166fs LIHC 17 45234594 45234729 + Splice_Site DEL CTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT CTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT - TCGA-DD-A11A-01A-11D-A12Z-10 TCGA-DD-A11A-10A-01D-A12Z-10 g.chr17:45234594_45234729delCTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT c.497_631delAGTTCTTACGGAAACACCCCAGGACACAATTGTAAGTGTCTTATATTCTAGTGTTCAAAATATTATGAAAACTACAAAGAATGATCTGAACTAAATAATATATTGTGAATGACTTGGTAGAAATTTTCTGTTTCAG c.(496-633)cagttcttacggaaacaccccaggacacaattgtaagtgtcttatattctagtgttcaaaatattatgaaaactacaaagaatgatctgaactaaataatatattgtgaatgacttggtagaaattttctgtttcaga>cga p.QFLRKHPRTQL*VSYILVFKIL*KLQRMI*TK*YIVNDLVEIFCF166fs LIHC 17 45234594 45234729 + Splice_Site DEL CTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT CTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT - TCGA-DD-A1EA-01A-11D-A12Z-10 TCGA-DD-A1EA-10A-01D-A12Z-10 g.chr17:45234594_45234729delCTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT c.497_631delAGTTCTTACGGAAACACCCCAGGACACAATTGTAAGTGTCTTATATTCTAGTGTTCAAAATATTATGAAAACTACAAAGAATGATCTGAACTAAATAATATATTGTGAATGACTTGGTAGAAATTTTCTGTTTCAG c.(496-633)cagttcttacggaaacaccccaggacacaattgtaagtgtcttatattctagtgttcaaaatattatgaaaactacaaagaatgatctgaactaaataatatattgtgaatgacttggtagaaattttctgtttcaga>cga p.QFLRKHPRTQL*VSYILVFKIL*KLQRMI*TK*YIVNDLVEIFCF166fs LIHC 17 45234594 45234729 + Splice_Site DEL CTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT CTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT - TCGA-DD-A1EB-01A-11D-A12Z-10 TCGA-DD-A1EB-10A-01D-A12Z-10 g.chr17:45234594_45234729delCTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT c.497_631delAGTTCTTACGGAAACACCCCAGGACACAATTGTAAGTGTCTTATATTCTAGTGTTCAAAATATTATGAAAACTACAAAGAATGATCTGAACTAAATAATATATTGTGAATGACTTGGTAGAAATTTTCTGTTTCAG c.(496-633)cagttcttacggaaacaccccaggacacaattgtaagtgtcttatattctagtgttcaaaatattatgaaaactacaaagaatgatctgaactaaataatatattgtgaatgacttggtagaaattttctgtttcaga>cga p.QFLRKHPRTQL*VSYILVFKIL*KLQRMI*TK*YIVNDLVEIFCF166fs LIHC 17 45234594 45234729 + Splice_Site DEL CTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT CTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT - TCGA-DD-A1EJ-01A-11D-A152-10 TCGA-DD-A1EJ-10A-01D-A152-10 g.chr17:45234594_45234729delCTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT c.497_631delAGTTCTTACGGAAACACCCCAGGACACAATTGTAAGTGTCTTATATTCTAGTGTTCAAAATATTATGAAAACTACAAAGAATGATCTGAACTAAATAATATATTGTGAATGACTTGGTAGAAATTTTCTGTTTCAG c.(496-633)cagttcttacggaaacaccccaggacacaattgtaagtgtcttatattctagtgttcaaaatattatgaaaactacaaagaatgatctgaactaaataatatattgtgaatgacttggtagaaattttctgtttcaga>cga p.QFLRKHPRTQL*VSYILVFKIL*KLQRMI*TK*YIVNDLVEIFCF166fs LIHC 17 45234594 45234729 + Splice_Site DEL CTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT CTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT - TCGA-EP-A12J-01A-11D-A12Z-10 TCGA-EP-A12J-10A-01D-A12Z-10 g.chr17:45234594_45234729delCTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT c.497_631delAGTTCTTACGGAAACACCCCAGGACACAATTGTAAGTGTCTTATATTCTAGTGTTCAAAATATTATGAAAACTACAAAGAATGATCTGAACTAAATAATATATTGTGAATGACTTGGTAGAAATTTTCTGTTTCAG c.(496-633)cagttcttacggaaacaccccaggacacaattgtaagtgtcttatattctagtgttcaaaatattatgaaaactacaaagaatgatctgaactaaataatatattgtgaatgacttggtagaaattttctgtttcaga>cga p.QFLRKHPRTQL*VSYILVFKIL*KLQRMI*TK*YIVNDLVEIFCF166fs LIHC 17 45234594 45234729 + Splice_Site DEL CTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT CTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT - TCGA-FV-A4ZQ-01A-11D-A25V-10 TCGA-FV-A4ZQ-10A-01D-A25V-10 g.chr17:45234594_45234729delCTGAAACAGAAAATTTCTACCAAGTCATTCACAATATATTATTTAGTTCAGATCATTCTTTGTAGTTTTCATAATATTTTGAACACTAGAATATAAGACACTTACAATTGTGTCCTGGGGTGTTTCCGTAAGAACT c.497_631delAGTTCTTACGGAAACACCCCAGGACACAATTGTAAGTGTCTTATATTCTAGTGTTCAAAATATTATGAAAACTACAAAGAATGATCTGAACTAAATAATATATTGTGAATGACTTGGTAGAAATTTTCTGTTTCAG c.(496-633)cagttcttacggaaacaccccaggacacaattgtaagtgtcttatattctagtgttcaaaatattatgaaaactacaaagaatgatctgaactaaataatatattgtgaatgacttggtagaaattttctgtttcaga>cga p.QFLRKHPRTQL*VSYILVFKIL*KLQRMI*TK*YIVNDLVEIFCF166fs LIHC 17 45234727 45234727 + Missense_Mutation SNP T T A TCGA-DD-AACA-01A-11D-A40R-10 TCGA-DD-AACA-10A-01D-A40U-10 g.chr17:45234727T>A c.499A>T c.(499-501)Aca>Tca p.T167S LIHC 17 45247316 45247316 + Missense_Mutation SNP C C T TCGA-DD-A39Z-01A-11D-A20W-10 TCGA-DD-A39Z-11A-21D-A20W-10 g.chr17:45247316C>T c.344G>A c.(343-345)tGc>tAc p.C115Y LIHC 17 45249328 45249328 + Missense_Mutation SNP G G A TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr17:45249328G>A c.206C>T c.(205-207)cCg>cTg p.P69L LUAD 17 45206824 45206824 + Missense_Mutation SNP C C A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr17:45206824C>A c.2095G>T c.(2095-2097)Gat>Tat p.D699Y LUAD 17 45214547 45214547 + Silent SNP G G A TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr17:45214547G>A c.1884C>T c.(1882-1884)atC>atT p.I628I LUAD 17 45214564 45214564 + Missense_Mutation SNP A A T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr17:45214564A>T c.1867T>A c.(1867-1869)Tgt>Agt p.C623S LUAD 17 45214646 45214646 + Silent SNP T T C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 g.chr17:45214646T>C c.1785A>G c.(1783-1785)caA>caG p.Q595Q LUAD 17 45219271 45219271 + Missense_Mutation SNP C C G TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr17:45219271C>G c.1499G>C c.(1498-1500)tGg>tCg p.W500S LUAD 17 45219283 45219283 + Missense_Mutation SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 g.chr17:45219283T>C c.1487A>G c.(1486-1488)tAc>tGc p.Y496C LUAD 17 45219643 45219643 + Missense_Mutation SNP T T C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 g.chr17:45219643T>C c.1330A>G c.(1330-1332)Aca>Gca p.T444A LUAD 17 45232085 45232085 + Missense_Mutation SNP T T A TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr17:45232085T>A c.910A>T c.(910-912)Aca>Tca p.T304S LUAD 17 45234726 45234726 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr17:45234726G>C c.500C>G c.(499-501)aCa>aGa p.T167R LUSC 17 45219266 45219266 + Silent SNP G G A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 g.chr17:45219266G>A c.1504C>T c.(1504-1506)Ctg>Ttg p.L502L LUSC 17 45219285 45219285 + Missense_Mutation SNP G G C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr17:45219285G>C c.1485C>G c.(1483-1485)caC>caG p.H495Q LUSC 17 45232092 45232092 + Silent SNP G G A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 g.chr17:45232092G>A c.903C>T c.(901-903)taC>taT p.Y301Y LUSC 17 45235617 45235617 + Missense_Mutation SNP A A C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr17:45235617A>C c.430T>G c.(430-432)Tta>Gta p.L144V LUSC 17 45258960 45258960 + Missense_Mutation SNP G G T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr17:45258960G>T c.71C>A c.(70-72)gCg>gAg p.A24E OV 17 45206793 45206793 + Missense_Mutation SNP C C G TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 g.chr17:45206793C>G c.2126G>C c.(2125-2127)aGa>aCa p.R709T OV 17 45216162 45216162 + Missense_Mutation SNP A A C TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 g.chr17:45216162A>C c.1647T>G c.(1645-1647)gaT>gaG p.D549E OV 17 45221247 45221247 + Splice_Site SNP A A G TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 g.chr17:45221247A>G c.e10+1 PAAD 17 45206848 45206848 + Missense_Mutation SNP T T A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 g.chr17:45206848T>A c.2071A>T c.(2071-2073)Acc>Tcc p.T691S PAAD 17 45234401 45234401 + Missense_Mutation SNP A A C TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 g.chr17:45234401A>C c.720T>G c.(718-720)atT>atG p.I240M PAAD 17 45234625 45234625 + Missense_Mutation SNP C C T TCGA-2J-AABO-01A-21D-A40W-08 TCGA-2J-AABO-10A-01D-A40W-08 g.chr17:45234625C>T c.601G>A c.(601-603)Gtt>Att p.V201I PAAD 17 45234625 45234625 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 g.chr17:45234625C>T c.601G>A c.(601-603)Gtt>Att p.V201I PAAD 17 45234708 45234708 + Missense_Mutation SNP A A G TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 g.chr17:45234708A>G c.518T>C c.(517-519)tTa>tCa p.L173S PAAD 17 45234708 45234708 + Missense_Mutation SNP A A G TCGA-LB-A8F3-01A-11D-A36O-08 TCGA-LB-A8F3-10A-01D-A367-08 g.chr17:45234708A>G c.518T>C c.(517-519)tTa>tCa p.L173S PCPG 17 45219308 45219308 + Silent SNP A A G TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 g.chr17:45219308A>G c.1462T>C c.(1462-1464)Ttg>Ctg p.L488L PCPG 17 45234323 45234323 + Silent SNP T T C TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 g.chr17:45234323T>C c.798A>G c.(796-798)cgA>cgG p.R266R PRAD 17 45219653 45219653 + Silent SNP C C T TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 g.chr17:45219653C>T c.1320G>A c.(1318-1320)ggG>ggA p.G440G PRAD 17 45234690 45234706 + Frame_Shift_Del DEL CAGTTGCTAAAGTTCTG CAGTTGCTAAAGTTCTG - TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 g.chr17:45234690_45234706delCAGTTGCTAAAGTTCTG c.520_536delCAGAACTTTAGCAACTG c.(520-537)cagaactttagcaactgtfs p.QNFSNC174fs PRAD 17 45235647 45235647 + Nonsense_Mutation SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:45235647C>A c.400G>T c.(400-402)Gga>Tga p.G134* READ 17 45201281 45201281 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:45201281C>A c.2206G>T c.(2206-2208)Gaa>Taa p.E736* READ 17 45206868 45206868 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:45206868T>G c.2051A>C c.(2050-2052)aAa>aCa p.K684T READ 17 45214664 45214664 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:45214664G>T c.1767C>A c.(1765-1767)ttC>ttA p.F589L READ 17 45216112 45216112 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr17:45216112G>A c.1697C>T c.(1696-1698)tCg>tTg p.S566L READ 17 45216210 45216210 + Silent SNP A A G TCGA-AG-3586-01A-02W-0831-10 TCGA-AG-3586-10A-01W-0831-10 g.chr17:45216210A>G c.1599T>C c.(1597-1599)gtT>gtC p.V533V READ 17 45216216 45216216 + Silent SNP A A G TCGA-AG-3586-01A-02W-0831-10 TCGA-AG-3586-10A-01W-0831-10 g.chr17:45216216A>G c.1593T>C c.(1591-1593)taT>taC p.Y531Y SKCM 17 45199825 45199825 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZP-06A-11D-A197-08 TCGA-FS-A1ZP-10A-01D-A199-08 g.chr17:45199825G>A c.2377C>T c.(2377-2379)Caa>Taa p.Q793* SKCM 17 45201273 45201273 + Silent SNP G G A TCGA-EE-A2GH-06A-11D-A196-08 TCGA-EE-A2GH-10A-01D-A198-08 g.chr17:45201273G>A c.2214C>T c.(2212-2214)ctC>ctT p.L738L SKCM 17 45201287 45201287 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr17:45201287G>A c.2200C>T c.(2200-2202)Ccc>Tcc p.P734S SKCM 17 45214564 45214564 + Missense_Mutation SNP A A T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 g.chr17:45214564A>T c.1867T>A c.(1867-1869)Tgt>Agt p.C623S SKCM 17 45219350 45219350 + Missense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr17:45219350A>C c.1420T>G c.(1420-1422)Tta>Gta p.L474V SKCM 17 45219355 45219355 + Missense_Mutation SNP C C G TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 g.chr17:45219355C>G c.1415G>C c.(1414-1416)gGt>gCt p.G472A SKCM 17 45221283 45221283 + Missense_Mutation SNP G G A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr17:45221283G>A c.1136C>T c.(1135-1137)tCa>tTa p.S379L SKCM 17 45232057 45232057 + Missense_Mutation SNP G G A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr17:45232057G>A c.938C>T c.(937-939)aCc>aTc p.T313I SKCM 17 45234304 45234304 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr17:45234304C>T c.817G>A c.(817-819)Gca>Aca p.A273T SKCM 17 45234323 45234323 + Silent SNP T T C TCGA-ER-A2NF-06A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 g.chr17:45234323T>C c.798A>G c.(796-798)cgA>cgG p.R266R SKCM 17 45234324 45234324 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr17:45234324C>T c.797G>A c.(796-798)cGa>cAa p.R266Q SKCM 17 45234366 45234366 + Missense_Mutation SNP G G A TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr17:45234366G>A c.755C>T c.(754-756)tCc>tTc p.S252F SKCM 17 45234378 45234378 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr17:45234378C>T c.743G>A c.(742-744)gGa>gAa p.G248E SKCM 17 45234395 45234395 + Silent SNP A A T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr17:45234395A>T c.726T>A c.(724-726)ccT>ccA p.P242P SKCM 17 45234714 45234714 + Missense_Mutation SNP G G T TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr17:45234714G>T c.512C>A c.(511-513)aCa>aAa p.T171K SKCM 17 45234749 45234749 + Splice_Site SNP A A C TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 g.chr17:45234749A>C c.477T>G c.(475-477)ggT>ggG p.G159G SKCM 17 45266512 45266512 + Splice_Site SNP C C T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr17:45266512C>T c.27G>A c.(25-27)caG>caA p.Q9Q

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 17 45198309 45198309 single base substitution C T 3_prime_UTR_variant BLCA-CN 17 45198309 45198309 single base substitution C T downstream_gene_variant BLCA-CN 17 45198309 45198309 single base substitution C T missense_variant E762K 2284G>A BLCA-CN 17 45198309 45198309 single base substitution C T missense_variant E822K 2464G>A BLCA-CN 17 45198309 45198309 single base substitution C T missense_variant E823K 2467G>A BLCA-CN 17 45198309 45198309 single base substitution C T missense_variant E829K 2485G>A BLCA-CN 17 45216198 45216198 single base substitution C T 3_prime_UTR_variant BLCA-CN 17 45216198 45216198 single base substitution C T downstream_gene_variant BLCA-CN 17 45216198 45216198 single base substitution C T intron_variant BLCA-CN 17 45216198 45216198 single base substitution C T synonymous_variant E476E 1428G>A BLCA-CN 17 45216198 45216198 single base substitution C T synonymous_variant E536E 1608G>A BLCA-CN 17 45216198 45216198 single base substitution C T synonymous_variant E537E 1611G>A BLCA-CN 17 45216198 45216198 single base substitution C T synonymous_variant E543E 1629G>A BLCA-CN 17 45216198 45216198 single base substitution C T upstream_gene_variant BLCA-CN 17 45219310 45219310 single base substitution A G 3_prime_UTR_variant BLCA-CN 17 45219310 45219310 single base substitution A G downstream_gene_variant BLCA-CN 17 45219310 45219310 single base substitution A G exon_variant BLCA-CN 17 45219310 45219310 single base substitution A G intron_variant BLCA-CN 17 45219310 45219310 single base substitution A G missense_variant I426T 1277T>C BLCA-CN 17 45219310 45219310 single base substitution A G missense_variant I486T 1457T>C BLCA-CN 17 45219310 45219310 single base substitution A G missense_variant I487T 1460T>C BLCA-CN 17 45219310 45219310 single base substitution A G missense_variant I493T 1478T>C BLCA-CN 17 45219310 45219310 single base substitution A G upstream_gene_variant BLCA-CN 17 45219654 45219654 single base substitution C T 3_prime_UTR_variant BLCA-CN 17 45219654 45219654 single base substitution C T downstream_gene_variant BLCA-CN 17 45219654 45219654 single base substitution C T exon_variant BLCA-CN 17 45219654 45219654 single base substitution C T intron_variant BLCA-CN 17 45219654 45219654 single base substitution C T missense_variant G379E 1136G>A BLCA-CN 17 45219654 45219654 single base substitution C T missense_variant G440E 1319G>A BLCA-CN 17 45219654 45219654 single base substitution C T missense_variant G446E 1337G>A BLCA-CN 17 45219669 45219669 single base substitution G A 3_prime_UTR_variant BLCA-CN 17 45219669 45219669 single base substitution G A downstream_gene_variant BLCA-CN 17 45219669 45219669 single base substitution G A exon_variant BLCA-CN 17 45219669 45219669 single base substitution G A intron_variant BLCA-CN 17 45219669 45219669 single base substitution G A missense_variant S374F 1121C>T BLCA-CN 17 45219669 45219669 single base substitution G A missense_variant S435F 1304C>T BLCA-CN 17 45219669 45219669 single base substitution G A missense_variant S441F 1322C>T BLCA-CN 17 45219697 45219697 single base substitution T C 3_prime_UTR_variant BLCA-CN 17 45219697 45219697 single base substitution T C downstream_gene_variant BLCA-CN 17 45219697 45219697 single base substitution T C exon_variant BLCA-CN 17 45219697 45219697 single base substitution T C intron_variant BLCA-CN 17 45219697 45219697 single base substitution T C missense_variant S365G 1093A>G BLCA-CN 17 45219697 45219697 single base substitution T C missense_variant S426G 1276A>G BLCA-CN 17 45219697 45219697 single base substitution T C missense_variant S432G 1294A>G BLCA-CN 17 45219698 45219698 single base substitution A G 3_prime_UTR_variant BLCA-CN 17 45219698 45219698 single base substitution A G downstream_gene_variant BLCA-CN 17 45219698 45219698 single base substitution A G exon_variant BLCA-CN 17 45219698 45219698 single base substitution A G intron_variant BLCA-CN 17 45219698 45219698 single base substitution A G synonymous_variant D364D 1092T>C BLCA-CN 17 45219698 45219698 single base substitution A G synonymous_variant D425D 1275T>C BLCA-CN 17 45219698 45219698 single base substitution A G synonymous_variant D431D 1293T>C BLCA-CN 17 45219703 45219703 single base substitution T C 3_prime_UTR_variant BLCA-CN 17 45219703 45219703 single base substitution T C downstream_gene_variant BLCA-CN 17 45219703 45219703 single base substitution T C exon_variant BLCA-CN 17 45219703 45219703 single base substitution T C intron_variant BLCA-CN 17 45219703 45219703 single base substitution T C missense_variant N363D 1087A>G BLCA-CN 17 45219703 45219703 single base substitution T C missense_variant N424D 1270A>G BLCA-CN 17 45219703 45219703 single base substitution T C missense_variant N430D 1288A>G BLCA-CN 17 45219707 45219707 single base substitution G A 3_prime_UTR_variant BLCA-CN 17 45219707 45219707 single base substitution G A downstream_gene_variant BLCA-CN 17 45219707 45219707 single base substitution G A exon_variant BLCA-CN 17 45219707 45219707 single base substitution G A intron_variant BLCA-CN 17 45219707 45219707 single base substitution G A synonymous_variant N361N 1083C>T BLCA-CN 17 45219707 45219707 single base substitution G A synonymous_variant N422N 1266C>T BLCA-CN 17 45219707 45219707 single base substitution G A synonymous_variant N428N 1284C>T BLCA-CN 17 45219752 45219752 single base substitution T C 3_prime_UTR_variant BLCA-CN 17 45219752 45219752 single base substitution T C downstream_gene_variant BLCA-CN 17 45219752 45219752 single base substitution T C intron_variant BLCA-CN 17 45219752 45219752 single base substitution T C synonymous_variant R346R 1038A>G BLCA-CN 17 45219752 45219752 single base substitution T C synonymous_variant R407R 1221A>G BLCA-CN 17 45219752 45219752 single base substitution T C synonymous_variant R413R 1239A>G BLCA-CN 17 45219752 45219752 single base substitution T C upstream_gene_variant BLCA-CN 17 45219760 45219760 single base substitution G A 3_prime_UTR_variant BLCA-CN 17 45219760 45219760 single base substitution G A downstream_gene_variant BLCA-CN 17 45219760 45219760 single base substitution G A intron_variant BLCA-CN 17 45219760 45219760 single base substitution G A missense_variant P344S 1030C>T BLCA-CN 17 45219760 45219760 single base substitution G A missense_variant P405S 1213C>T BLCA-CN 17 45219760 45219760 single base substitution G A missense_variant P411S 1231C>T BLCA-CN 17 45219760 45219760 single base substitution G A upstream_gene_variant BLCA-CN 17 45247328 45247328 single base substitution C T exon_variant BLCA-CN 17 45247328 45247328 single base substitution C T intron_variant BLCA-CN 17 45247328 45247328 single base substitution C T missense_variant G111D 332G>A BLCA-CN 17 45247328 45247328 single base substitution C T missense_variant G50D 149G>A BLCA-CN 17 45247362 45247362 single base substitution G A exon_variant BLCA-CN 17 45247362 45247362 single base substitution G A intron_variant BLCA-CN 17 45247362 45247362 single base substitution G A stop_gained Q100* 298C>T BLCA-CN 17 45247362 45247362 single base substitution G A stop_gained Q39* 115C>T BLCA-CN 17 45247362 45247362 single base substitution G A upstream_gene_variant BLCA-US 17 45199920 45199920 single base substitution G A 3_prime_UTR_variant BLCA-US 17 45199920 45199920 single base substitution G A exon_variant BLCA-US 17 45199920 45199920 single base substitution G A intron_variant BLCA-US 17 45199920 45199920 single base substitution G A missense_variant S700F 2099C>T BLCA-US 17 45199920 45199920 single base substitution G A missense_variant S760F 2279C>T BLCA-US 17 45199920 45199920 single base substitution G A missense_variant S761F 2282C>T BLCA-US 17 45199920 45199920 single base substitution G A missense_variant S767F 2300C>T BLCA-US 17 45214642 45214642 single base substitution C G 3_prime_UTR_variant BLCA-US 17 45214642 45214642 single base substitution C G downstream_gene_variant BLCA-US 17 45214642 45214642 single base substitution C G intron_variant BLCA-US 17 45214642 45214642 single base substitution C G missense_variant D536H 1606G>C BLCA-US 17 45214642 45214642 single base substitution C G missense_variant D596H 1786G>C BLCA-US 17 45214642 45214642 single base substitution C G missense_variant D597H 1789G>C BLCA-US 17 45214642 45214642 single base substitution C G missense_variant D603H 1807G>C BLCA-US 17 45214642 45214642 single base substitution C G upstream_gene_variant BLCA-US 17 45247383 45247383 single base substitution A C exon_variant BLCA-US 17 45247383 45247383 single base substitution A C intron_variant BLCA-US 17 45247383 45247383 single base substitution A C missense_variant S32A 94T>G BLCA-US 17 45247383 45247383 single base substitution A C missense_variant S93A 277T>G BLCA-US 17 45247383 45247383 single base substitution A C upstream_gene_variant BLCA-US 17 45247389 45247389 deletion of <=200bp T - exon_variant BLCA-US 17 45247389 45247389 deletion of <=200bp T - frameshift_variant I30 BLCA-US 17 45247389 45247389 deletion of <=200bp T - frameshift_variant I91 BLCA-US 17 45247389 45247389 deletion of <=200bp T - intron_variant BLCA-US 17 45247389 45247389 deletion of <=200bp T - upstream_gene_variant BRCA-EU 17 45191371 45191371 insertion of <=200bp - A downstream_gene_variant BRCA-EU 17 45191962 45191962 single base substitution C T downstream_gene_variant BRCA-EU 17 45192423 45192423 single base substitution T A downstream_gene_variant BRCA-EU 17 45193518 45193518 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 45195982 45195982 single base substitution C A 3_prime_UTR_variant BRCA-EU 17 45195982 45195982 single base substitution C A downstream_gene_variant BRCA-EU 17 45197730 45197730 single base substitution A T 3_prime_UTR_variant BRCA-EU 17 45197730 45197730 single base substitution A T downstream_gene_variant BRCA-EU 17 45198218 45198218 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 45198218 45198218 single base substitution G C downstream_gene_variant BRCA-EU 17 45198380 45198380 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 45198380 45198380 single base substitution C T downstream_gene_variant BRCA-EU 17 45198380 45198380 single base substitution C T missense_variant G738E 2213G>A BRCA-EU 17 45198380 45198380 single base substitution C T missense_variant G798E 2393G>A BRCA-EU 17 45198380 45198380 single base substitution C T missense_variant G799E 2396G>A BRCA-EU 17 45198380 45198380 single base substitution C T missense_variant G805E 2414G>A BRCA-EU 17 45199268 45199268 single base substitution G A downstream_gene_variant BRCA-EU 17 45199268 45199268 single base substitution G A intron_variant BRCA-EU 17 45200741 45200741 single base substitution A G intron_variant BRCA-EU 17 45201222 45201222 single base substitution A T intron_variant BRCA-EU 17 45204169 45204169 single base substitution T A intron_variant BRCA-EU 17 45204169 45204169 single base substitution T A upstream_gene_variant BRCA-EU 17 45204302 45204302 single base substitution G T intron_variant BRCA-EU 17 45204302 45204302 single base substitution G T upstream_gene_variant BRCA-EU 17 45204442 45204442 single base substitution G C intron_variant BRCA-EU 17 45204442 45204442 single base substitution G C upstream_gene_variant BRCA-EU 17 45204777 45204777 insertion of <=200bp - T intron_variant BRCA-EU 17 45204777 45204777 insertion of <=200bp - T upstream_gene_variant BRCA-EU 17 45205732 45205732 single base substitution C G intron_variant BRCA-EU 17 45205732 45205732 single base substitution C G upstream_gene_variant BRCA-EU 17 45206899 45206899 single base substitution A G intron_variant BRCA-EU 17 45208409 45208409 single base substitution C G intron_variant BRCA-EU 17 45209655 45209655 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 45209655 45209655 single base substitution G A downstream_gene_variant BRCA-EU 17 45209655 45209655 single base substitution G A stop_gained Q60* 178C>T BRCA-EU 17 45209655 45209655 single base substitution G A stop_gained Q606* 1816C>T BRCA-EU 17 45209655 45209655 single base substitution G A stop_gained Q666* 1996C>T BRCA-EU 17 45209655 45209655 single base substitution G A stop_gained Q667* 1999C>T BRCA-EU 17 45209655 45209655 single base substitution G A stop_gained Q673* 2017C>T BRCA-EU 17 45209656 45209656 single base substitution A C 3_prime_UTR_variant BRCA-EU 17 45209656 45209656 single base substitution A C downstream_gene_variant BRCA-EU 17 45209656 45209656 single base substitution A C synonymous_variant P59P 177T>G BRCA-EU 17 45209656 45209656 single base substitution A C synonymous_variant P605P 1815T>G BRCA-EU 17 45209656 45209656 single base substitution A C synonymous_variant P665P 1995T>G BRCA-EU 17 45209656 45209656 single base substitution A C synonymous_variant P666P 1998T>G BRCA-EU 17 45209656 45209656 single base substitution A C synonymous_variant P672P 2016T>G BRCA-EU 17 45212621 45212621 single base substitution C T downstream_gene_variant BRCA-EU 17 45212621 45212621 single base substitution C T intron_variant BRCA-EU 17 45214851 45214851 single base substitution A G downstream_gene_variant BRCA-EU 17 45214851 45214851 single base substitution A G intron_variant BRCA-EU 17 45214851 45214851 single base substitution A G upstream_gene_variant BRCA-EU 17 45215254 45215254 deletion of <=200bp C - downstream_gene_variant BRCA-EU 17 45215254 45215254 deletion of <=200bp C - intron_variant BRCA-EU 17 45215254 45215254 deletion of <=200bp C - upstream_gene_variant BRCA-EU 17 45216531 45216531 single base substitution C T downstream_gene_variant BRCA-EU 17 45216531 45216531 single base substitution C T intron_variant BRCA-EU 17 45216531 45216531 single base substitution C T upstream_gene_variant BRCA-EU 17 45217708 45217708 single base substitution G A downstream_gene_variant BRCA-EU 17 45217708 45217708 single base substitution G A intron_variant BRCA-EU 17 45217708 45217708 single base substitution G A upstream_gene_variant BRCA-EU 17 45218477 45218477 single base substitution G C downstream_gene_variant BRCA-EU 17 45218477 45218477 single base substitution G C intron_variant BRCA-EU 17 45218477 45218477 single base substitution G C upstream_gene_variant BRCA-EU 17 45218605 45218605 single base substitution C G downstream_gene_variant BRCA-EU 17 45218605 45218605 single base substitution C G intron_variant BRCA-EU 17 45218605 45218605 single base substitution C G upstream_gene_variant BRCA-EU 17 45220270 45220270 single base substitution G T downstream_gene_variant BRCA-EU 17 45220270 45220270 single base substitution G T intron_variant BRCA-EU 17 45220270 45220270 single base substitution G T upstream_gene_variant BRCA-EU 17 45221307 45221307 deletion of <=200bp G - 3_prime_UTR_variant BRCA-EU 17 45221307 45221307 deletion of <=200bp G - exon_variant BRCA-EU 17 45221307 45221307 deletion of <=200bp G - frameshift_variant P310 BRCA-EU 17 45221307 45221307 deletion of <=200bp G - frameshift_variant P371 BRCA-EU 17 45221307 45221307 deletion of <=200bp G - frameshift_variant P377 BRCA-EU 17 45221307 45221307 deletion of <=200bp G - intron_variant BRCA-EU 17 45221307 45221307 deletion of <=200bp G - upstream_gene_variant BRCA-EU 17 45221583 45221583 single base substitution A G intron_variant BRCA-EU 17 45221583 45221583 single base substitution A G upstream_gene_variant BRCA-EU 17 45224914 45224914 single base substitution A T downstream_gene_variant BRCA-EU 17 45224914 45224914 single base substitution A T intron_variant BRCA-EU 17 45225110 45225110 single base substitution A G downstream_gene_variant BRCA-EU 17 45225110 45225110 single base substitution A G intron_variant BRCA-EU 17 45225807 45225807 single base substitution C T downstream_gene_variant BRCA-EU 17 45225807 45225807 single base substitution C T intron_variant BRCA-EU 17 45227727 45227727 single base substitution G T downstream_gene_variant BRCA-EU 17 45227727 45227727 single base substitution G T intron_variant BRCA-EU 17 45227910 45227910 single base substitution C G downstream_gene_variant BRCA-EU 17 45227910 45227910 single base substitution C G intron_variant BRCA-EU 17 45228415 45228415 single base substitution G A downstream_gene_variant BRCA-EU 17 45228415 45228415 single base substitution G A intron_variant BRCA-EU 17 45228700 45228700 single base substitution A G downstream_gene_variant BRCA-EU 17 45228700 45228700 single base substitution A G intron_variant BRCA-EU 17 45230275 45230275 single base substitution C T downstream_gene_variant BRCA-EU 17 45230275 45230275 single base substitution C T intron_variant BRCA-EU 17 45230569 45230569 single base substitution C T downstream_gene_variant BRCA-EU 17 45230569 45230569 single base substitution C T intron_variant BRCA-EU 17 45230978 45230978 single base substitution C A downstream_gene_variant BRCA-EU 17 45230978 45230978 single base substitution C A intron_variant BRCA-EU 17 45231603 45231603 deletion of <=200bp T - downstream_gene_variant BRCA-EU 17 45231603 45231603 deletion of <=200bp T - intron_variant BRCA-EU 17 45231955 45231955 single base substitution T C downstream_gene_variant BRCA-EU 17 45231955 45231955 single base substitution T C intron_variant BRCA-EU 17 45232577 45232577 single base substitution C T downstream_gene_variant BRCA-EU 17 45232577 45232577 single base substitution C T intron_variant BRCA-EU 17 45232623 45232623 deletion of <=200bp T - downstream_gene_variant BRCA-EU 17 45232623 45232623 deletion of <=200bp T - intron_variant BRCA-EU 17 45233574 45233574 single base substitution G A downstream_gene_variant BRCA-EU 17 45233574 45233574 single base substitution G A intron_variant BRCA-EU 17 45237012 45237012 single base substitution G T intron_variant BRCA-EU 17 45237012 45237012 single base substitution G T upstream_gene_variant BRCA-EU 17 45237091 45237091 single base substitution C T intron_variant BRCA-EU 17 45237091 45237091 single base substitution C T upstream_gene_variant BRCA-EU 17 45237177 45237177 single base substitution G C intron_variant BRCA-EU 17 45237177 45237177 single base substitution G C upstream_gene_variant BRCA-EU 17 45237540 45237540 single base substitution T G intron_variant BRCA-EU 17 45237540 45237540 single base substitution T G upstream_gene_variant BRCA-EU 17 45238442 45238442 single base substitution A T intron_variant BRCA-EU 17 45238442 45238442 single base substitution A T upstream_gene_variant BRCA-EU 17 45238690 45238690 single base substitution C T intron_variant BRCA-EU 17 45238690 45238690 single base substitution C T upstream_gene_variant BRCA-EU 17 45239216 45239216 single base substitution T C intron_variant BRCA-EU 17 45239216 45239216 single base substitution T C upstream_gene_variant BRCA-EU 17 45239731 45239731 single base substitution C G intron_variant BRCA-EU 17 45239998 45239998 single base substitution G C intron_variant BRCA-EU 17 45240338 45240338 single base substitution T A intron_variant BRCA-EU 17 45240530 45240530 single base substitution C T intron_variant BRCA-EU 17 45243495 45243495 single base substitution G A intron_variant BRCA-EU 17 45243959 45243959 single base substitution C G intron_variant BRCA-EU 17 45245446 45245446 single base substitution C T intron_variant BRCA-EU 17 45245680 45245680 single base substitution C G intron_variant BRCA-EU 17 45245826 45245826 single base substitution C G intron_variant BRCA-EU 17 45249116 45249116 deletion of <=200bp C - intron_variant BRCA-EU 17 45249116 45249116 deletion of <=200bp C - upstream_gene_variant BRCA-EU 17 45250852 45250852 single base substitution C A intron_variant BRCA-EU 17 45250852 45250852 single base substitution C A upstream_gene_variant BRCA-EU 17 45251137 45251137 single base substitution C T intron_variant BRCA-EU 17 45251137 45251137 single base substitution C T upstream_gene_variant BRCA-EU 17 45251586 45251586 single base substitution A G intron_variant BRCA-EU 17 45251586 45251586 single base substitution A G upstream_gene_variant BRCA-EU 17 45254621 45254621 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 45254621 45254621 deletion of <=200bp A - intron_variant BRCA-EU 17 45255186 45255186 single base substitution G A downstream_gene_variant BRCA-EU 17 45255186 45255186 single base substitution G A intron_variant BRCA-EU 17 45255608 45255608 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 45255608 45255608 deletion of <=200bp A - intron_variant BRCA-EU 17 45256176 45256176 deletion of <=200bp G - downstream_gene_variant BRCA-EU 17 45256176 45256176 deletion of <=200bp G - intron_variant BRCA-EU 17 45257544 45257544 single base substitution A G downstream_gene_variant BRCA-EU 17 45257544 45257544 single base substitution A G intron_variant BRCA-EU 17 45257726 45257726 single base substitution C G downstream_gene_variant BRCA-EU 17 45257726 45257726 single base substitution C G intron_variant BRCA-EU 17 45259318 45259318 single base substitution C T intron_variant BRCA-EU 17 45259318 45259318 single base substitution C T upstream_gene_variant BRCA-EU 17 45260076 45260076 single base substitution C G intron_variant BRCA-EU 17 45260076 45260076 single base substitution C G upstream_gene_variant BRCA-EU 17 45262844 45262844 single base substitution C T intron_variant BRCA-EU 17 45262844 45262844 single base substitution C T upstream_gene_variant BRCA-EU 17 45264580 45264580 single base substitution G C intron_variant BRCA-EU 17 45266132 45266132 single base substitution C T exon_variant BRCA-EU 17 45266132 45266132 single base substitution C T intron_variant BRCA-EU 17 45266369 45266369 single base substitution G C intron_variant BRCA-EU 17 45266369 45266369 single base substitution G C upstream_gene_variant BRCA-EU 17 45266497 45266497 single base substitution G A intron_variant BRCA-EU 17 45266497 45266497 single base substitution G A upstream_gene_variant BRCA-EU 17 45267439 45267439 single base substitution G A upstream_gene_variant BRCA-EU 17 45269300 45269300 single base substitution A G upstream_gene_variant BRCA-EU 17 45270867 45270867 single base substitution C G upstream_gene_variant BRCA-FR 17 45191962 45191962 single base substitution C T downstream_gene_variant BRCA-FR 17 45211454 45211454 single base substitution G A downstream_gene_variant BRCA-FR 17 45211454 45211454 single base substitution G A intron_variant BRCA-FR 17 45234359 45234359 single base substitution T A 3_prime_UTR_variant BRCA-FR 17 45234359 45234359 single base substitution T A downstream_gene_variant BRCA-FR 17 45234359 45234359 single base substitution T A exon_variant BRCA-FR 17 45234359 45234359 single base substitution T A intron_variant BRCA-FR 17 45234359 45234359 single base substitution T A missense_variant L193F 579A>T BRCA-FR 17 45234359 45234359 single base substitution T A missense_variant L254F 762A>T BRCA-FR 17 45234359 45234359 single base substitution T A upstream_gene_variant BRCA-FR 17 45237177 45237177 single base substitution G C intron_variant BRCA-FR 17 45237177 45237177 single base substitution G C upstream_gene_variant BRCA-KR 17 45234303 45234303 single base substitution G C 3_prime_UTR_variant BRCA-KR 17 45234303 45234303 single base substitution G C downstream_gene_variant BRCA-KR 17 45234303 45234303 single base substitution G C exon_variant BRCA-KR 17 45234303 45234303 single base substitution G C intron_variant BRCA-KR 17 45234303 45234303 single base substitution G C missense_variant A212G 635C>G BRCA-KR 17 45234303 45234303 single base substitution G C missense_variant A226G 677C>G BRCA-KR 17 45234303 45234303 single base substitution G C missense_variant A273G 818C>G BRCA-KR 17 45234303 45234303 single base substitution G C upstream_gene_variant BRCA-UK 17 45195124 45195124 single base substitution G C 3_prime_UTR_variant BRCA-UK 17 45195124 45195124 single base substitution G C downstream_gene_variant BRCA-UK 17 45201257 45201257 single base substitution C T 3_prime_UTR_variant BRCA-UK 17 45201257 45201257 single base substitution C T exon_variant BRCA-UK 17 45201257 45201257 single base substitution C T missense_variant G137R 409G>A BRCA-UK 17 45201257 45201257 single base substitution C T missense_variant G683R 2047G>A BRCA-UK 17 45201257 45201257 single base substitution C T missense_variant G743R 2227G>A BRCA-UK 17 45201257 45201257 single base substitution C T missense_variant G744R 2230G>A BRCA-UK 17 45201257 45201257 single base substitution C T missense_variant G750R 2248G>A BRCA-UK 17 45209655 45209655 single base substitution G A 3_prime_UTR_variant BRCA-UK 17 45209655 45209655 single base substitution G A downstream_gene_variant BRCA-UK 17 45209655 45209655 single base substitution G A stop_gained Q60* 178C>T BRCA-UK 17 45209655 45209655 single base substitution G A stop_gained Q606* 1816C>T BRCA-UK 17 45209655 45209655 single base substitution G A stop_gained Q666* 1996C>T BRCA-UK 17 45209655 45209655 single base substitution G A stop_gained Q667* 1999C>T BRCA-UK 17 45209655 45209655 single base substitution G A stop_gained Q673* 2017C>T BRCA-UK 17 45209656 45209656 single base substitution A C 3_prime_UTR_variant BRCA-UK 17 45209656 45209656 single base substitution A C downstream_gene_variant BRCA-UK 17 45209656 45209656 single base substitution A C synonymous_variant P59P 177T>G BRCA-UK 17 45209656 45209656 single base substitution A C synonymous_variant P605P 1815T>G BRCA-UK 17 45209656 45209656 single base substitution A C synonymous_variant P665P 1995T>G BRCA-UK 17 45209656 45209656 single base substitution A C synonymous_variant P666P 1998T>G BRCA-UK 17 45209656 45209656 single base substitution A C synonymous_variant P672P 2016T>G BRCA-UK 17 45221583 45221583 single base substitution A G intron_variant BRCA-UK 17 45221583 45221583 single base substitution A G upstream_gene_variant BRCA-UK 17 45225110 45225110 single base substitution A G downstream_gene_variant BRCA-UK 17 45225110 45225110 single base substitution A G intron_variant BRCA-UK 17 45228700 45228700 single base substitution A G downstream_gene_variant BRCA-UK 17 45228700 45228700 single base substitution A G intron_variant BRCA-UK 17 45231955 45231955 single base substitution T C downstream_gene_variant BRCA-UK 17 45231955 45231955 single base substitution T C intron_variant BRCA-UK 17 45246962 45246962 single base substitution G C intron_variant BRCA-UK 17 45249885 45249885 single base substitution G C intron_variant BRCA-UK 17 45249885 45249885 single base substitution G C upstream_gene_variant BRCA-US 17 45201281 45201281 single base substitution C A 3_prime_UTR_variant BRCA-US 17 45201281 45201281 single base substitution C A stop_gained E129* 385G>T BRCA-US 17 45201281 45201281 single base substitution C A stop_gained E675* 2023G>T BRCA-US 17 45201281 45201281 single base substitution C A stop_gained E735* 2203G>T BRCA-US 17 45201281 45201281 single base substitution C A stop_gained E736* 2206G>T BRCA-US 17 45201281 45201281 single base substitution C A stop_gained E742* 2224G>T BRCA-US 17 45201281 45201281 single base substitution C A upstream_gene_variant BRCA-US 17 45214547 45214547 single base substitution G A 3_prime_UTR_variant BRCA-US 17 45214547 45214547 single base substitution G A downstream_gene_variant BRCA-US 17 45214547 45214547 single base substitution G A intron_variant BRCA-US 17 45214547 45214547 single base substitution G A synonymous_variant I21I 63C>T BRCA-US 17 45214547 45214547 single base substitution G A synonymous_variant I567I 1701C>T BRCA-US 17 45214547 45214547 single base substitution G A synonymous_variant I627I 1881C>T BRCA-US 17 45214547 45214547 single base substitution G A synonymous_variant I628I 1884C>T BRCA-US 17 45214547 45214547 single base substitution G A synonymous_variant I634I 1902C>T BRCA-US 17 45214685 45214685 single base substitution T C 3_prime_UTR_variant BRCA-US 17 45214685 45214685 single base substitution T C downstream_gene_variant BRCA-US 17 45214685 45214685 single base substitution T C intron_variant BRCA-US 17 45214685 45214685 single base substitution T C synonymous_variant E521E 1563A>G BRCA-US 17 45214685 45214685 single base substitution T C synonymous_variant E581E 1743A>G BRCA-US 17 45214685 45214685 single base substitution T C synonymous_variant E582E 1746A>G BRCA-US 17 45214685 45214685 single base substitution T C synonymous_variant E588E 1764A>G BRCA-US 17 45214685 45214685 single base substitution T C upstream_gene_variant BRCA-US 17 45219239 45219239 single base substitution C T 3_prime_UTR_variant BRCA-US 17 45219239 45219239 single base substitution C T downstream_gene_variant BRCA-US 17 45219239 45219239 single base substitution C T exon_variant BRCA-US 17 45219239 45219239 single base substitution C T intron_variant BRCA-US 17 45219239 45219239 single base substitution C T missense_variant E450K 1348G>A BRCA-US 17 45219239 45219239 single base substitution C T missense_variant E510K 1528G>A BRCA-US 17 45219239 45219239 single base substitution C T missense_variant E511K 1531G>A BRCA-US 17 45219239 45219239 single base substitution C T missense_variant E517K 1549G>A BRCA-US 17 45219239 45219239 single base substitution C T upstream_gene_variant BRCA-US 17 45219311 45219311 single base substitution T C 3_prime_UTR_variant BRCA-US 17 45219311 45219311 single base substitution T C downstream_gene_variant BRCA-US 17 45219311 45219311 single base substitution T C exon_variant BRCA-US 17 45219311 45219311 single base substitution T C intron_variant BRCA-US 17 45219311 45219311 single base substitution T C missense_variant I426V 1276A>G BRCA-US 17 45219311 45219311 single base substitution T C missense_variant I486V 1456A>G BRCA-US 17 45219311 45219311 single base substitution T C missense_variant I487V 1459A>G BRCA-US 17 45219311 45219311 single base substitution T C missense_variant I493V 1477A>G BRCA-US 17 45219311 45219311 single base substitution T C upstream_gene_variant BRCA-US 17 45234350 45234350 single base substitution C T 3_prime_UTR_variant BRCA-US 17 45234350 45234350 single base substitution C T downstream_gene_variant BRCA-US 17 45234350 45234350 single base substitution C T exon_variant BRCA-US 17 45234350 45234350 single base substitution C T intron_variant BRCA-US 17 45234350 45234350 single base substitution C T splice_acceptor_variant BRCA-US 17 45234350 45234350 single base substitution C T synonymous_variant Q196Q 588G>A BRCA-US 17 45234350 45234350 single base substitution C T synonymous_variant Q257Q 771G>A BRCA-US 17 45234350 45234350 single base substitution C T upstream_gene_variant BRCA-US 17 45234397 45234397 single base substitution G A 3_prime_UTR_variant BRCA-US 17 45234397 45234397 single base substitution G A downstream_gene_variant BRCA-US 17 45234397 45234397 single base substitution G A exon_variant BRCA-US 17 45234397 45234397 single base substitution G A intron_variant BRCA-US 17 45234397 45234397 single base substitution G A missense_variant P181S 541C>T BRCA-US 17 45234397 45234397 single base substitution G A missense_variant P242S 724C>T BRCA-US 17 45234397 45234397 single base substitution G A upstream_gene_variant BRCA-US 17 45234484 45234484 single base substitution T C 3_prime_UTR_variant BRCA-US 17 45234484 45234484 single base substitution T C downstream_gene_variant BRCA-US 17 45234484 45234484 single base substitution T C exon_variant BRCA-US 17 45234484 45234484 single base substitution T C intron_variant BRCA-US 17 45234484 45234484 single base substitution T C missense_variant N152D 454A>G BRCA-US 17 45234484 45234484 single base substitution T C missense_variant N213D 637A>G BRCA-US 17 45234484 45234484 single base substitution T C upstream_gene_variant BRCA-US 17 45234725 45234725 single base substitution T C 3_prime_UTR_variant BRCA-US 17 45234725 45234725 single base substitution T C exon_variant BRCA-US 17 45234725 45234725 single base substitution T C intron_variant BRCA-US 17 45234725 45234725 single base substitution T C synonymous_variant T106T 318A>G BRCA-US 17 45234725 45234725 single base substitution T C synonymous_variant T167T 501A>G BRCA-US 17 45234725 45234725 single base substitution T C upstream_gene_variant BRCA-US 17 45235659 45235659 single base substitution G A exon_variant BRCA-US 17 45235659 45235659 single base substitution G A intron_variant BRCA-US 17 45235659 45235659 single base substitution G A missense_variant R130W 388C>T BRCA-US 17 45235659 45235659 single base substitution G A missense_variant R69W 205C>T BRCA-US 17 45235659 45235659 single base substitution G A upstream_gene_variant BTCA-JP 17 45214484 45214484 single base substitution T C downstream_gene_variant BTCA-JP 17 45214484 45214484 single base substitution T C intron_variant BTCA-JP 17 45214486 45214486 single base substitution C A downstream_gene_variant BTCA-JP 17 45214486 45214486 single base substitution C A intron_variant BTCA-JP 17 45214509 45214509 single base substitution A G downstream_gene_variant BTCA-JP 17 45214509 45214509 single base substitution A G intron_variant BTCA-JP 17 45214551 45214551 single base substitution G A 3_prime_UTR_variant BTCA-JP 17 45214551 45214551 single base substitution G A downstream_gene_variant BTCA-JP 17 45214551 45214551 single base substitution G A intron_variant BTCA-JP 17 45214551 45214551 single base substitution G A missense_variant A20V 59C>T BTCA-JP 17 45214551 45214551 single base substitution G A missense_variant A566V 1697C>T BTCA-JP 17 45214551 45214551 single base substitution G A missense_variant A626V 1877C>T BTCA-JP 17 45214551 45214551 single base substitution G A missense_variant A627V 1880C>T BTCA-JP 17 45214551 45214551 single base substitution G A missense_variant A633V 1898C>T BTCA-JP 17 45219299 45219299 single base substitution G A 3_prime_UTR_variant BTCA-JP 17 45219299 45219299 single base substitution G A downstream_gene_variant BTCA-JP 17 45219299 45219299 single base substitution G A exon_variant BTCA-JP 17 45219299 45219299 single base substitution G A intron_variant BTCA-JP 17 45219299 45219299 single base substitution G A synonymous_variant L430L 1288C>T BTCA-JP 17 45219299 45219299 single base substitution G A synonymous_variant L490L 1468C>T BTCA-JP 17 45219299 45219299 single base substitution G A synonymous_variant L491L 1471C>T BTCA-JP 17 45219299 45219299 single base substitution G A synonymous_variant L497L 1489C>T BTCA-JP 17 45219299 45219299 single base substitution G A upstream_gene_variant BTCA-JP 17 45234449 45234449 single base substitution G A 3_prime_UTR_variant BTCA-JP 17 45234449 45234449 single base substitution G A downstream_gene_variant BTCA-JP 17 45234449 45234449 single base substitution G A exon_variant BTCA-JP 17 45234449 45234449 single base substitution G A intron_variant BTCA-JP 17 45234449 45234449 single base substitution G A synonymous_variant Y163Y 489C>T BTCA-JP 17 45234449 45234449 single base substitution G A synonymous_variant Y224Y 672C>T BTCA-JP 17 45234449 45234449 single base substitution G A upstream_gene_variant BTCA-JP 17 45234657 45234657 single base substitution T C 3_prime_UTR_variant BTCA-JP 17 45234657 45234657 single base substitution T C exon_variant BTCA-JP 17 45234657 45234657 single base substitution T C intron_variant BTCA-JP 17 45234657 45234657 single base substitution T C missense_variant N129S 386A>G BTCA-JP 17 45234657 45234657 single base substitution T C missense_variant N190S 569A>G BTCA-JP 17 45234657 45234657 single base substitution T C upstream_gene_variant BTCA-JP 17 45249491 45249491 single base substitution T C intron_variant BTCA-JP 17 45249491 45249491 single base substitution T C upstream_gene_variant CESC-US 17 45214547 45214547 single base substitution G C 3_prime_UTR_variant CESC-US 17 45214547 45214547 single base substitution G C downstream_gene_variant CESC-US 17 45214547 45214547 single base substitution G C intron_variant CESC-US 17 45214547 45214547 single base substitution G C missense_variant I21M 63C>G CESC-US 17 45214547 45214547 single base substitution G C missense_variant I567M 1701C>G CESC-US 17 45214547 45214547 single base substitution G C missense_variant I627M 1881C>G CESC-US 17 45214547 45214547 single base substitution G C missense_variant I628M 1884C>G CESC-US 17 45214547 45214547 single base substitution G C missense_variant I634M 1902C>G CESC-US 17 45219631 45219631 single base substitution G A 3_prime_UTR_variant CESC-US 17 45219631 45219631 single base substitution G A downstream_gene_variant CESC-US 17 45219631 45219631 single base substitution G A exon_variant CESC-US 17 45219631 45219631 single base substitution G A intron_variant CESC-US 17 45219631 45219631 single base substitution G A stop_gained Q387* 1159C>T CESC-US 17 45219631 45219631 single base substitution G A stop_gained Q448* 1342C>T CESC-US 17 45219631 45219631 single base substitution G A stop_gained Q454* 1360C>T CESC-US 17 45234327 45234327 single base substitution C T 3_prime_UTR_variant CESC-US 17 45234327 45234327 single base substitution C T downstream_gene_variant CESC-US 17 45234327 45234327 single base substitution C T exon_variant CESC-US 17 45234327 45234327 single base substitution C T intron_variant CESC-US 17 45234327 45234327 single base substitution C T missense_variant G204D 611G>A CESC-US 17 45234327 45234327 single base substitution C T missense_variant G218D 653G>A CESC-US 17 45234327 45234327 single base substitution C T missense_variant G265D 794G>A CESC-US 17 45234327 45234327 single base substitution C T upstream_gene_variant CESC-US 17 45234397 45234397 single base substitution G A 3_prime_UTR_variant CESC-US 17 45234397 45234397 single base substitution G A downstream_gene_variant CESC-US 17 45234397 45234397 single base substitution G A exon_variant CESC-US 17 45234397 45234397 single base substitution G A intron_variant CESC-US 17 45234397 45234397 single base substitution G A missense_variant P181S 541C>T CESC-US 17 45234397 45234397 single base substitution G A missense_variant P242S 724C>T CESC-US 17 45234397 45234397 single base substitution G A upstream_gene_variant CESC-US 17 45247376 45247376 single base substitution C A exon_variant CESC-US 17 45247376 45247376 single base substitution C A intron_variant CESC-US 17 45247376 45247376 single base substitution C A missense_variant G34V 101G>T CESC-US 17 45247376 45247376 single base substitution C A missense_variant G95V 284G>T CESC-US 17 45247376 45247376 single base substitution C A upstream_gene_variant CLLE-ES 17 45206709 45206709 single base substitution G A intron_variant COAD-US 17 45214643 45214643 single base substitution A T 3_prime_UTR_variant COAD-US 17 45214643 45214643 single base substitution A T downstream_gene_variant COAD-US 17 45214643 45214643 single base substitution A T intron_variant COAD-US 17 45214643 45214643 single base substitution A T synonymous_variant V535V 1605T>A COAD-US 17 45214643 45214643 single base substitution A T synonymous_variant V595V 1785T>A COAD-US 17 45214643 45214643 single base substitution A T synonymous_variant V596V 1788T>A COAD-US 17 45214643 45214643 single base substitution A T synonymous_variant V602V 1806T>A COAD-US 17 45214643 45214643 single base substitution A T upstream_gene_variant COAD-US 17 45214690 45214690 single base substitution G A 3_prime_UTR_variant COAD-US 17 45214690 45214690 single base substitution G A downstream_gene_variant COAD-US 17 45214690 45214690 single base substitution G A intron_variant COAD-US 17 45214690 45214690 single base substitution G A missense_variant R520W 1558C>T COAD-US 17 45214690 45214690 single base substitution G A missense_variant R580W 1738C>T COAD-US 17 45214690 45214690 single base substitution G A missense_variant R581W 1741C>T COAD-US 17 45214690 45214690 single base substitution G A missense_variant R587W 1759C>T COAD-US 17 45214690 45214690 single base substitution G A upstream_gene_variant COAD-US 17 45216112 45216112 single base substitution G A 3_prime_UTR_variant COAD-US 17 45216112 45216112 single base substitution G A downstream_gene_variant COAD-US 17 45216112 45216112 single base substitution G A intron_variant COAD-US 17 45216112 45216112 single base substitution G A missense_variant S505L 1514C>T COAD-US 17 45216112 45216112 single base substitution G A missense_variant S565L 1694C>T COAD-US 17 45216112 45216112 single base substitution G A missense_variant S566L 1697C>T COAD-US 17 45216112 45216112 single base substitution G A missense_variant S572L 1715C>T COAD-US 17 45216112 45216112 single base substitution G A upstream_gene_variant COAD-US 17 45219763 45219763 deletion of <=200bp T - 3_prime_UTR_variant COAD-US 17 45219763 45219763 deletion of <=200bp T - downstream_gene_variant COAD-US 17 45219763 45219763 deletion of <=200bp T - frameshift_variant I343 COAD-US 17 45219763 45219763 deletion of <=200bp T - frameshift_variant I404 COAD-US 17 45219763 45219763 deletion of <=200bp T - frameshift_variant I410 COAD-US 17 45219763 45219763 deletion of <=200bp T - intron_variant COAD-US 17 45219763 45219763 deletion of <=200bp T - upstream_gene_variant COAD-US 17 45221292 45221292 single base substitution C T 3_prime_UTR_variant COAD-US 17 45221292 45221292 single base substitution C T exon_variant COAD-US 17 45221292 45221292 single base substitution C T intron_variant COAD-US 17 45221292 45221292 single base substitution C T missense_variant R315Q 944G>A COAD-US 17 45221292 45221292 single base substitution C T missense_variant R376Q 1127G>A COAD-US 17 45221292 45221292 single base substitution C T missense_variant R382Q 1145G>A COAD-US 17 45221292 45221292 single base substitution C T upstream_gene_variant COAD-US 17 45234300 45234300 single base substitution G T 3_prime_UTR_variant COAD-US 17 45234300 45234300 single base substitution G T downstream_gene_variant COAD-US 17 45234300 45234300 single base substitution G T exon_variant COAD-US 17 45234300 45234300 single base substitution G T intron_variant COAD-US 17 45234300 45234300 single base substitution G T missense_variant A213D 638C>A COAD-US 17 45234300 45234300 single base substitution G T missense_variant A227D 680C>A COAD-US 17 45234300 45234300 single base substitution G T missense_variant A274D 821C>A COAD-US 17 45234300 45234300 single base substitution G T upstream_gene_variant COAD-US 17 45234367 45234367 single base substitution A T 3_prime_UTR_variant COAD-US 17 45234367 45234367 single base substitution A T downstream_gene_variant COAD-US 17 45234367 45234367 single base substitution A T exon_variant COAD-US 17 45234367 45234367 single base substitution A T intron_variant COAD-US 17 45234367 45234367 single base substitution A T missense_variant S191T 571T>A COAD-US 17 45234367 45234367 single base substitution A T missense_variant S252T 754T>A COAD-US 17 45234367 45234367 single base substitution A T upstream_gene_variant COAD-US 17 45247325 45247325 single base substitution T C exon_variant COAD-US 17 45247325 45247325 single base substitution T C intron_variant COAD-US 17 45247325 45247325 single base substitution T C missense_variant D112G 335A>G COAD-US 17 45247325 45247325 single base substitution T C missense_variant D51G 152A>G COAD-US 17 45249393 45249393 single base substitution A G exon_variant COAD-US 17 45249393 45249393 single base substitution A G intron_variant COAD-US 17 45249393 45249393 single base substitution A G synonymous_variant C47C 141T>C COAD-US 17 45249393 45249393 single base substitution A G upstream_gene_variant COAD-US 17 45258958 45258958 single base substitution C A exon_variant COAD-US 17 45258958 45258958 single base substitution C A missense_variant G13V 38G>T COAD-US 17 45258958 45258958 single base substitution C A missense_variant V25F 73G>T COCA-CN 17 45214510 45214510 single base substitution C G downstream_gene_variant COCA-CN 17 45214510 45214510 single base substitution C G intron_variant COCA-CN 17 45214510 45214510 single base substitution C G splice_region_variant COCA-CN 17 45214519 45214519 single base substitution A G 3_prime_UTR_variant COCA-CN 17 45214519 45214519 single base substitution A G downstream_gene_variant COCA-CN 17 45214519 45214519 single base substitution A G intron_variant COCA-CN 17 45214519 45214519 single base substitution A G missense_variant W31R 91T>C COCA-CN 17 45214519 45214519 single base substitution A G missense_variant W577R 1729T>C COCA-CN 17 45214519 45214519 single base substitution A G missense_variant W637R 1909T>C COCA-CN 17 45214519 45214519 single base substitution A G missense_variant W638R 1912T>C COCA-CN 17 45214519 45214519 single base substitution A G missense_variant W644R 1930T>C COCA-CN 17 45214519 45214519 single base substitution A G splice_region_variant COCA-CN 17 45214523 45214523 single base substitution A C 3_prime_UTR_variant COCA-CN 17 45214523 45214523 single base substitution A C downstream_gene_variant COCA-CN 17 45214523 45214523 single base substitution A C intron_variant COCA-CN 17 45214523 45214523 single base substitution A C missense_variant N29K 87T>G COCA-CN 17 45214523 45214523 single base substitution A C missense_variant N575K 1725T>G COCA-CN 17 45214523 45214523 single base substitution A C missense_variant N635K 1905T>G COCA-CN 17 45214523 45214523 single base substitution A C missense_variant N636K 1908T>G COCA-CN 17 45214523 45214523 single base substitution A C missense_variant N642K 1926T>G COCA-CN 17 45214527 45214527 single base substitution T C 3_prime_UTR_variant COCA-CN 17 45214527 45214527 single base substitution T C downstream_gene_variant COCA-CN 17 45214527 45214527 single base substitution T C intron_variant COCA-CN 17 45214527 45214527 single base substitution T C missense_variant Y28C 83A>G COCA-CN 17 45214527 45214527 single base substitution T C missense_variant Y574C 1721A>G COCA-CN 17 45214527 45214527 single base substitution T C missense_variant Y634C 1901A>G COCA-CN 17 45214527 45214527 single base substitution T C missense_variant Y635C 1904A>G COCA-CN 17 45214527 45214527 single base substitution T C missense_variant Y641C 1922A>G COCA-CN 17 45214528 45214528 single base substitution A T 3_prime_UTR_variant COCA-CN 17 45214528 45214528 single base substitution A T downstream_gene_variant COCA-CN 17 45214528 45214528 single base substitution A T intron_variant COCA-CN 17 45214528 45214528 single base substitution A T missense_variant Y28N 82T>A COCA-CN 17 45214528 45214528 single base substitution A T missense_variant Y574N 1720T>A COCA-CN 17 45214528 45214528 single base substitution A T missense_variant Y634N 1900T>A COCA-CN 17 45214528 45214528 single base substitution A T missense_variant Y635N 1903T>A COCA-CN 17 45214528 45214528 single base substitution A T missense_variant Y641N 1921T>A COCA-CN 17 45214544 45214544 single base substitution T C 3_prime_UTR_variant COCA-CN 17 45214544 45214544 single base substitution T C downstream_gene_variant COCA-CN 17 45214544 45214544 single base substitution T C intron_variant COCA-CN 17 45214544 45214544 single base substitution T C synonymous_variant R22R 66A>G COCA-CN 17 45214544 45214544 single base substitution T C synonymous_variant R568R 1704A>G COCA-CN 17 45214544 45214544 single base substitution T C synonymous_variant R628R 1884A>G COCA-CN 17 45214544 45214544 single base substitution T C synonymous_variant R629R 1887A>G COCA-CN 17 45214544 45214544 single base substitution T C synonymous_variant R635R 1905A>G COCA-CN 17 45214557 45214557 single base substitution C T 3_prime_UTR_variant COCA-CN 17 45214557 45214557 single base substitution C T downstream_gene_variant COCA-CN 17 45214557 45214557 single base substitution C T intron_variant COCA-CN 17 45214557 45214557 single base substitution C T missense_variant R18Q 53G>A COCA-CN 17 45214557 45214557 single base substitution C T missense_variant R564Q 1691G>A COCA-CN 17 45214557 45214557 single base substitution C T missense_variant R624Q 1871G>A COCA-CN 17 45214557 45214557 single base substitution C T missense_variant R625Q 1874G>A COCA-CN 17 45214557 45214557 single base substitution C T missense_variant R631Q 1892G>A COCA-CN 17 45214558 45214558 single base substitution G A 3_prime_UTR_variant COCA-CN 17 45214558 45214558 single base substitution G A downstream_gene_variant COCA-CN 17 45214558 45214558 single base substitution G A intron_variant COCA-CN 17 45214558 45214558 single base substitution G A stop_gained R18* 52C>T COCA-CN 17 45214558 45214558 single base substitution G A stop_gained R564* 1690C>T COCA-CN 17 45214558 45214558 single base substitution G A stop_gained R624* 1870C>T COCA-CN 17 45214558 45214558 single base substitution G A stop_gained R625* 1873C>T COCA-CN 17 45214558 45214558 single base substitution G A stop_gained R631* 1891C>T COCA-CN 17 45214559 45214559 single base substitution A G 3_prime_UTR_variant COCA-CN 17 45214559 45214559 single base substitution A G downstream_gene_variant COCA-CN 17 45214559 45214559 single base substitution A G intron_variant COCA-CN 17 45214559 45214559 single base substitution A G synonymous_variant F17F 51T>C COCA-CN 17 45214559 45214559 single base substitution A G synonymous_variant F563F 1689T>C COCA-CN 17 45214559 45214559 single base substitution A G synonymous_variant F623F 1869T>C COCA-CN 17 45214559 45214559 single base substitution A G synonymous_variant F624F 1872T>C COCA-CN 17 45214559 45214559 single base substitution A G synonymous_variant F630F 1890T>C COCA-CN 17 45214564 45214564 single base substitution A T 3_prime_UTR_variant COCA-CN 17 45214564 45214564 single base substitution A T downstream_gene_variant COCA-CN 17 45214564 45214564 single base substitution A T intron_variant COCA-CN 17 45214564 45214564 single base substitution A T missense_variant C16S 46T>A COCA-CN 17 45214564 45214564 single base substitution A T missense_variant C562S 1684T>A COCA-CN 17 45214564 45214564 single base substitution A T missense_variant C622S 1864T>A COCA-CN 17 45214564 45214564 single base substitution A T missense_variant C623S 1867T>A COCA-CN 17 45214564 45214564 single base substitution A T missense_variant C629S 1885T>A COCA-CN 17 45214582 45214582 single base substitution A G 3_prime_UTR_variant COCA-CN 17 45214582 45214582 single base substitution A G downstream_gene_variant COCA-CN 17 45214582 45214582 single base substitution A G intron_variant COCA-CN 17 45214582 45214582 single base substitution A G synonymous_variant L10L 28T>C COCA-CN 17 45214582 45214582 single base substitution A G synonymous_variant L556L 1666T>C COCA-CN 17 45214582 45214582 single base substitution A G synonymous_variant L616L 1846T>C COCA-CN 17 45214582 45214582 single base substitution A G synonymous_variant L617L 1849T>C COCA-CN 17 45214582 45214582 single base substitution A G synonymous_variant L623L 1867T>C COCA-CN 17 45214592 45214592 single base substitution T G 3_prime_UTR_variant COCA-CN 17 45214592 45214592 single base substitution T G downstream_gene_variant COCA-CN 17 45214592 45214592 single base substitution T G intron_variant COCA-CN 17 45214592 45214592 single base substitution T G missense_variant L552F 1656A>C COCA-CN 17 45214592 45214592 single base substitution T G missense_variant L612F 1836A>C COCA-CN 17 45214592 45214592 single base substitution T G missense_variant L613F 1839A>C COCA-CN 17 45214592 45214592 single base substitution T G missense_variant L619F 1857A>C COCA-CN 17 45214592 45214592 single base substitution T G missense_variant L6F 18A>C COCA-CN 17 45214606 45214606 single base substitution G T 3_prime_UTR_variant COCA-CN 17 45214606 45214606 single base substitution G T downstream_gene_variant COCA-CN 17 45214606 45214606 single base substitution G T intron_variant COCA-CN 17 45214606 45214606 single base substitution G T missense_variant H2N 4C>A COCA-CN 17 45214606 45214606 single base substitution G T missense_variant H548N 1642C>A COCA-CN 17 45214606 45214606 single base substitution G T missense_variant H608N 1822C>A COCA-CN 17 45214606 45214606 single base substitution G T missense_variant H609N 1825C>A COCA-CN 17 45214606 45214606 single base substitution G T missense_variant H615N 1843C>A COCA-CN 17 45214623 45214623 single base substitution G A 3_prime_UTR_variant COCA-CN 17 45214623 45214623 single base substitution G A downstream_gene_variant COCA-CN 17 45214623 45214623 single base substitution G A intron_variant COCA-CN 17 45214623 45214623 single base substitution G A missense_variant A542V 1625C>T COCA-CN 17 45214623 45214623 single base substitution G A missense_variant A602V 1805C>T COCA-CN 17 45214623 45214623 single base substitution G A missense_variant A603V 1808C>T COCA-CN 17 45214623 45214623 single base substitution G A missense_variant A609V 1826C>T COCA-CN 17 45214623 45214623 single base substitution G A upstream_gene_variant COCA-CN 17 45214636 45214636 single base substitution T C 3_prime_UTR_variant COCA-CN 17 45214636 45214636 single base substitution T C downstream_gene_variant COCA-CN 17 45214636 45214636 single base substitution T C intron_variant COCA-CN 17 45214636 45214636 single base substitution T C missense_variant N538D 1612A>G COCA-CN 17 45214636 45214636 single base substitution T C missense_variant N598D 1792A>G COCA-CN 17 45214636 45214636 single base substitution T C missense_variant N599D 1795A>G COCA-CN 17 45214636 45214636 single base substitution T C missense_variant N605D 1813A>G COCA-CN 17 45214636 45214636 single base substitution T C upstream_gene_variant COCA-CN 17 45214643 45214643 single base substitution A C 3_prime_UTR_variant COCA-CN 17 45214643 45214643 single base substitution A C downstream_gene_variant COCA-CN 17 45214643 45214643 single base substitution A C intron_variant COCA-CN 17 45214643 45214643 single base substitution A C synonymous_variant V535V 1605T>G COCA-CN 17 45214643 45214643 single base substitution A C synonymous_variant V595V 1785T>G COCA-CN 17 45214643 45214643 single base substitution A C synonymous_variant V596V 1788T>G COCA-CN 17 45214643 45214643 single base substitution A C synonymous_variant V602V 1806T>G COCA-CN 17 45214643 45214643 single base substitution A C upstream_gene_variant COCA-CN 17 45216210 45216210 single base substitution A G 3_prime_UTR_variant COCA-CN 17 45216210 45216210 single base substitution A G downstream_gene_variant COCA-CN 17 45216210 45216210 single base substitution A G intron_variant COCA-CN 17 45216210 45216210 single base substitution A G synonymous_variant V472V 1416T>C COCA-CN 17 45216210 45216210 single base substitution A G synonymous_variant V532V 1596T>C COCA-CN 17 45216210 45216210 single base substitution A G synonymous_variant V533V 1599T>C COCA-CN 17 45216210 45216210 single base substitution A G synonymous_variant V539V 1617T>C COCA-CN 17 45216210 45216210 single base substitution A G upstream_gene_variant COCA-CN 17 45216216 45216216 single base substitution A G 3_prime_UTR_variant COCA-CN 17 45216216 45216216 single base substitution A G downstream_gene_variant COCA-CN 17 45216216 45216216 single base substitution A G intron_variant COCA-CN 17 45216216 45216216 single base substitution A G synonymous_variant Y470Y 1410T>C COCA-CN 17 45216216 45216216 single base substitution A G synonymous_variant Y530Y 1590T>C COCA-CN 17 45216216 45216216 single base substitution A G synonymous_variant Y531Y 1593T>C COCA-CN 17 45216216 45216216 single base substitution A G synonymous_variant Y537Y 1611T>C COCA-CN 17 45216216 45216216 single base substitution A G upstream_gene_variant COCA-CN 17 45216231 45216231 single base substitution T C 3_prime_UTR_variant COCA-CN 17 45216231 45216231 single base substitution T C downstream_gene_variant COCA-CN 17 45216231 45216231 single base substitution T C intron_variant COCA-CN 17 45216231 45216231 single base substitution T C synonymous_variant R465R 1395A>G COCA-CN 17 45216231 45216231 single base substitution T C synonymous_variant R525R 1575A>G COCA-CN 17 45216231 45216231 single base substitution T C synonymous_variant R526R 1578A>G COCA-CN 17 45216231 45216231 single base substitution T C synonymous_variant R532R 1596A>G COCA-CN 17 45216231 45216231 single base substitution T C upstream_gene_variant COCA-CN 17 45219239 45219239 single base substitution C T 3_prime_UTR_variant COCA-CN 17 45219239 45219239 single base substitution C T downstream_gene_variant COCA-CN 17 45219239 45219239 single base substitution C T exon_variant COCA-CN 17 45219239 45219239 single base substitution C T intron_variant COCA-CN 17 45219239 45219239 single base substitution C T missense_variant E450K 1348G>A COCA-CN 17 45219239 45219239 single base substitution C T missense_variant E510K 1528G>A COCA-CN 17 45219239 45219239 single base substitution C T missense_variant E511K 1531G>A COCA-CN 17 45219239 45219239 single base substitution C T missense_variant E517K 1549G>A COCA-CN 17 45219239 45219239 single base substitution C T upstream_gene_variant COCA-CN 17 45219241 45219241 single base substitution A C 3_prime_UTR_variant COCA-CN 17 45219241 45219241 single base substitution A C downstream_gene_variant COCA-CN 17 45219241 45219241 single base substitution A C exon_variant COCA-CN 17 45219241 45219241 single base substitution A C intron_variant COCA-CN 17 45219241 45219241 single base substitution A C missense_variant F449C 1346T>G COCA-CN 17 45219241 45219241 single base substitution A C missense_variant F509C 1526T>G COCA-CN 17 45219241 45219241 single base substitution A C missense_variant F510C 1529T>G COCA-CN 17 45219241 45219241 single base substitution A C missense_variant F516C 1547T>G COCA-CN 17 45219241 45219241 single base substitution A C upstream_gene_variant COCA-CN 17 45219309 45219309 single base substitution A G 3_prime_UTR_variant COCA-CN 17 45219309 45219309 single base substitution A G downstream_gene_variant COCA-CN 17 45219309 45219309 single base substitution A G exon_variant COCA-CN 17 45219309 45219309 single base substitution A G intron_variant COCA-CN 17 45219309 45219309 single base substitution A G synonymous_variant I426I 1278T>C COCA-CN 17 45219309 45219309 single base substitution A G synonymous_variant I486I 1458T>C COCA-CN 17 45219309 45219309 single base substitution A G synonymous_variant I487I 1461T>C COCA-CN 17 45219309 45219309 single base substitution A G synonymous_variant I493I 1479T>C COCA-CN 17 45219309 45219309 single base substitution A G upstream_gene_variant COCA-CN 17 45219311 45219311 single base substitution T C 3_prime_UTR_variant COCA-CN 17 45219311 45219311 single base substitution T C downstream_gene_variant COCA-CN 17 45219311 45219311 single base substitution T C exon_variant COCA-CN 17 45219311 45219311 single base substitution T C intron_variant COCA-CN 17 45219311 45219311 single base substitution T C missense_variant I426V 1276A>G COCA-CN 17 45219311 45219311 single base substitution T C missense_variant I486V 1456A>G COCA-CN 17 45219311 45219311 single base substitution T C missense_variant I487V 1459A>G COCA-CN 17 45219311 45219311 single base substitution T C missense_variant I493V 1477A>G COCA-CN 17 45219311 45219311 single base substitution T C upstream_gene_variant COCA-CN 17 45219315 45219315 single base substitution T G 3_prime_UTR_variant COCA-CN 17 45219315 45219315 single base substitution T G downstream_gene_variant COCA-CN 17 45219315 45219315 single base substitution T G exon_variant COCA-CN 17 45219315 45219315 single base substitution T G intron_variant COCA-CN 17 45219315 45219315 single base substitution T G synonymous_variant I424I 1272A>C COCA-CN 17 45219315 45219315 single base substitution T G synonymous_variant I484I 1452A>C COCA-CN 17 45219315 45219315 single base substitution T G synonymous_variant I485I 1455A>C COCA-CN 17 45219315 45219315 single base substitution T G synonymous_variant I491I 1473A>C COCA-CN 17 45219315 45219315 single base substitution T G upstream_gene_variant COCA-CN 17 45219652 45219652 single base substitution T C 3_prime_UTR_variant COCA-CN 17 45219652 45219652 single base substitution T C downstream_gene_variant COCA-CN 17 45219652 45219652 single base substitution T C exon_variant COCA-CN 17 45219652 45219652 single base substitution T C intron_variant COCA-CN 17 45219652 45219652 single base substitution T C missense_variant K380E 1138A>G COCA-CN 17 45219652 45219652 single base substitution T C missense_variant K441E 1321A>G COCA-CN 17 45219652 45219652 single base substitution T C missense_variant K447E 1339A>G COCA-CN 17 45229228 45229228 single base substitution A C 3_prime_UTR_variant COCA-CN 17 45229228 45229228 single base substitution A C downstream_gene_variant COCA-CN 17 45229228 45229228 single base substitution A C exon_variant COCA-CN 17 45229228 45229228 single base substitution A C intron_variant COCA-CN 17 45229228 45229228 single base substitution A C missense_variant N277K 831T>G COCA-CN 17 45229228 45229228 single base substitution A C missense_variant N338K 1014T>G COCA-CN 17 45229228 45229228 single base substitution A C missense_variant N344K 1032T>G COCA-CN 17 45229234 45229234 single base substitution A C 3_prime_UTR_variant COCA-CN 17 45229234 45229234 single base substitution A C downstream_gene_variant COCA-CN 17 45229234 45229234 single base substitution A C exon_variant COCA-CN 17 45229234 45229234 single base substitution A C intron_variant COCA-CN 17 45229234 45229234 single base substitution A C missense_variant S275R 825T>G COCA-CN 17 45229234 45229234 single base substitution A C missense_variant S336R 1008T>G COCA-CN 17 45229234 45229234 single base substitution A C missense_variant S342R 1026T>G COCA-CN 17 45229240 45229240 single base substitution T C 3_prime_UTR_variant COCA-CN 17 45229240 45229240 single base substitution T C downstream_gene_variant COCA-CN 17 45229240 45229240 single base substitution T C exon_variant COCA-CN 17 45229240 45229240 single base substitution T C intron_variant COCA-CN 17 45229240 45229240 single base substitution T C synonymous_variant S273S 819A>G COCA-CN 17 45229240 45229240 single base substitution T C synonymous_variant S334S 1002A>G COCA-CN 17 45229240 45229240 single base substitution T C synonymous_variant S340S 1020A>G COCA-CN 17 45234298 45234298 single base substitution G C 3_prime_UTR_variant COCA-CN 17 45234298 45234298 single base substitution G C downstream_gene_variant COCA-CN 17 45234298 45234298 single base substitution G C exon_variant COCA-CN 17 45234298 45234298 single base substitution G C intron_variant COCA-CN 17 45234298 45234298 single base substitution G C missense_variant L214V 640C>G COCA-CN 17 45234298 45234298 single base substitution G C missense_variant L228V 682C>G COCA-CN 17 45234298 45234298 single base substitution G C missense_variant L275V 823C>G COCA-CN 17 45234298 45234298 single base substitution G C upstream_gene_variant COCA-CN 17 45234331 45234331 single base substitution T G 3_prime_UTR_variant COCA-CN 17 45234331 45234331 single base substitution T G downstream_gene_variant COCA-CN 17 45234331 45234331 single base substitution T G exon_variant COCA-CN 17 45234331 45234331 single base substitution T G intron_variant COCA-CN 17 45234331 45234331 single base substitution T G missense_variant T203P 607A>C COCA-CN 17 45234331 45234331 single base substitution T G missense_variant T217P 649A>C COCA-CN 17 45234331 45234331 single base substitution T G missense_variant T264P 790A>C COCA-CN 17 45234331 45234331 single base substitution T G upstream_gene_variant COCA-CN 17 45234403 45234404 multiple base substitution (>=2bp and <=200bp) TT GG 3_prime_UTR_variant COCA-CN 17 45234403 45234404 multiple base substitution (>=2bp and <=200bp) TT GG downstream_gene_variant COCA-CN 17 45234403 45234404 multiple base substitution (>=2bp and <=200bp) TT GG exon_variant COCA-CN 17 45234403 45234404 multiple base substitution (>=2bp and <=200bp) TT GG intron_variant COCA-CN 17 45234403 45234404 multiple base substitution (>=2bp and <=200bp) TT GG missense_variant VI178VL COCA-CN 17 45234403 45234404 multiple base substitution (>=2bp and <=200bp) TT GG missense_variant VI239VL COCA-CN 17 45234403 45234404 multiple base substitution (>=2bp and <=200bp) TT GG upstream_gene_variant COCA-CN 17 45234416 45234416 single base substitution A G 3_prime_UTR_variant COCA-CN 17 45234416 45234416 single base substitution A G downstream_gene_variant COCA-CN 17 45234416 45234416 single base substitution A G exon_variant COCA-CN 17 45234416 45234416 single base substitution A G intron_variant COCA-CN 17 45234416 45234416 single base substitution A G synonymous_variant I174I 522T>C COCA-CN 17 45234416 45234416 single base substitution A G synonymous_variant I235I 705T>C COCA-CN 17 45234416 45234416 single base substitution A G upstream_gene_variant COCA-CN 17 45234449 45234449 single base substitution G A 3_prime_UTR_variant COCA-CN 17 45234449 45234449 single base substitution G A downstream_gene_variant COCA-CN 17 45234449 45234449 single base substitution G A exon_variant COCA-CN 17 45234449 45234449 single base substitution G A intron_variant COCA-CN 17 45234449 45234449 single base substitution G A synonymous_variant Y163Y 489C>T COCA-CN 17 45234449 45234449 single base substitution G A synonymous_variant Y224Y 672C>T COCA-CN 17 45234449 45234449 single base substitution G A upstream_gene_variant COCA-CN 17 45234486 45234486 single base substitution A C 3_prime_UTR_variant COCA-CN 17 45234486 45234486 single base substitution A C downstream_gene_variant COCA-CN 17 45234486 45234486 single base substitution A C exon_variant COCA-CN 17 45234486 45234486 single base substitution A C intron_variant COCA-CN 17 45234486 45234486 single base substitution A C stop_gained L151* 452T>G COCA-CN 17 45234486 45234486 single base substitution A C stop_gained L212* 635T>G COCA-CN 17 45234486 45234486 single base substitution A C upstream_gene_variant COCA-CN 17 45234685 45234685 single base substitution G A 3_prime_UTR_variant COCA-CN 17 45234685 45234685 single base substitution G A exon_variant COCA-CN 17 45234685 45234685 single base substitution G A intron_variant COCA-CN 17 45234685 45234685 single base substitution G A missense_variant P120S 358C>T COCA-CN 17 45234685 45234685 single base substitution G A missense_variant P181S 541C>T COCA-CN 17 45234685 45234685 single base substitution G A upstream_gene_variant COCA-CN 17 45234689 45234689 single base substitution A G 3_prime_UTR_variant COCA-CN 17 45234689 45234689 single base substitution A G exon_variant COCA-CN 17 45234689 45234689 single base substitution A G intron_variant COCA-CN 17 45234689 45234689 single base substitution A G synonymous_variant C118C 354T>C COCA-CN 17 45234689 45234689 single base substitution A G synonymous_variant C179C 537T>C COCA-CN 17 45234689 45234689 single base substitution A G upstream_gene_variant COCA-CN 17 45234702 45234702 single base substitution T C 3_prime_UTR_variant COCA-CN 17 45234702 45234702 single base substitution T C exon_variant COCA-CN 17 45234702 45234702 single base substitution T C intron_variant COCA-CN 17 45234702 45234702 single base substitution T C missense_variant N114S 341A>G COCA-CN 17 45234702 45234702 single base substitution T C missense_variant N175S 524A>G COCA-CN 17 45234702 45234702 single base substitution T C upstream_gene_variant COCA-CN 17 45234706 45234706 single base substitution G C 3_prime_UTR_variant COCA-CN 17 45234706 45234706 single base substitution G C exon_variant COCA-CN 17 45234706 45234706 single base substitution G C intron_variant COCA-CN 17 45234706 45234706 single base substitution G C missense_variant Q113E 337C>G COCA-CN 17 45234706 45234706 single base substitution G C missense_variant Q174E 520C>G COCA-CN 17 45234706 45234706 single base substitution G C upstream_gene_variant COCA-CN 17 45234709 45234709 single base substitution A G 3_prime_UTR_variant COCA-CN 17 45234709 45234709 single base substitution A G exon_variant COCA-CN 17 45234709 45234709 single base substitution A G intron_variant COCA-CN 17 45234709 45234709 single base substitution A G synonymous_variant L112L 334T>C COCA-CN 17 45234709 45234709 single base substitution A G synonymous_variant L173L 517T>C COCA-CN 17 45234709 45234709 single base substitution A G upstream_gene_variant COCA-CN 17 45234713 45234713 single base substitution T G 3_prime_UTR_variant COCA-CN 17 45234713 45234713 single base substitution T G exon_variant COCA-CN 17 45234713 45234713 single base substitution T G intron_variant COCA-CN 17 45234713 45234713 single base substitution T G synonymous_variant T110T 330A>C COCA-CN 17 45234713 45234713 single base substitution T G synonymous_variant T171T 513A>C COCA-CN 17 45234713 45234713 single base substitution T G upstream_gene_variant COCA-CN 17 45234714 45234714 single base substitution G A 3_prime_UTR_variant COCA-CN 17 45234714 45234714 single base substitution G A exon_variant COCA-CN 17 45234714 45234714 single base substitution G A intron_variant COCA-CN 17 45234714 45234714 single base substitution G A missense_variant T110I 329C>T COCA-CN 17 45234714 45234714 single base substitution G A missense_variant T171I 512C>T COCA-CN 17 45234714 45234714 single base substitution G A upstream_gene_variant COCA-CN 17 45234720 45234720 single base substitution T C 3_prime_UTR_variant COCA-CN 17 45234720 45234720 single base substitution T C exon_variant COCA-CN 17 45234720 45234720 single base substitution T C intron_variant COCA-CN 17 45234720 45234720 single base substitution T C missense_variant K108R 323A>G COCA-CN 17 45234720 45234720 single base substitution T C missense_variant K169R 506A>G COCA-CN 17 45234720 45234720 single base substitution T C upstream_gene_variant COCA-CN 17 45234721 45234721 single base substitution T A 3_prime_UTR_variant COCA-CN 17 45234721 45234721 single base substitution T A exon_variant COCA-CN 17 45234721 45234721 single base substitution T A intron_variant COCA-CN 17 45234721 45234721 single base substitution T A stop_gained K108* 322A>T COCA-CN 17 45234721 45234721 single base substitution T A stop_gained K169* 505A>T COCA-CN 17 45234721 45234721 single base substitution T A upstream_gene_variant COCA-CN 17 45235561 45235561 single base substitution C A intron_variant COCA-CN 17 45235561 45235561 single base substitution C A upstream_gene_variant COCA-CN 17 45237204 45237204 single base substitution C T intron_variant COCA-CN 17 45237204 45237204 single base substitution C T upstream_gene_variant COCA-CN 17 45249306 45249306 single base substitution T C exon_variant COCA-CN 17 45249306 45249306 single base substitution T C intron_variant COCA-CN 17 45249306 45249306 single base substitution T C synonymous_variant A76A 228A>G COCA-CN 17 45249306 45249306 single base substitution T C upstream_gene_variant COCA-CN 17 45249316 45249316 single base substitution T C exon_variant COCA-CN 17 45249316 45249316 single base substitution T C intron_variant COCA-CN 17 45249316 45249316 single base substitution T C missense_variant Y73C 218A>G COCA-CN 17 45249316 45249316 single base substitution T C upstream_gene_variant COCA-CN 17 45249365 45249365 single base substitution C T exon_variant COCA-CN 17 45249365 45249365 single base substitution C T intron_variant COCA-CN 17 45249365 45249365 single base substitution C T missense_variant A57T 169G>A COCA-CN 17 45249365 45249365 single base substitution C T upstream_gene_variant COCA-CN 17 45258951 45258951 single base substitution A G exon_variant COCA-CN 17 45258951 45258951 single base substitution A G missense_variant L27P 80T>C COCA-CN 17 45258951 45258951 single base substitution A G synonymous_variant P15P 45T>C COCA-CN 17 45258954 45258954 single base substitution A G exon_variant COCA-CN 17 45258954 45258954 single base substitution A G missense_variant F26S 77T>C COCA-CN 17 45258954 45258954 single base substitution A G synonymous_variant F14F 42T>C COCA-CN 17 45258971 45258971 single base substitution A G 5_prime_UTR_variant COCA-CN 17 45258971 45258971 single base substitution A G exon_variant COCA-CN 17 45258971 45258971 single base substitution A G synonymous_variant A20A 60T>C COCA-CN 17 45258971 45258971 single base substitution A G synonymous_variant L9L 25T>C ESAD-UK 17 45195456 45195456 single base substitution C A 3_prime_UTR_variant ESAD-UK 17 45195456 45195456 single base substitution C A downstream_gene_variant ESAD-UK 17 45196085 45196085 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 45196085 45196085 single base substitution C T downstream_gene_variant ESAD-UK 17 45196119 45196119 single base substitution T A 3_prime_UTR_variant ESAD-UK 17 45196119 45196119 single base substitution T A downstream_gene_variant ESAD-UK 17 45199224 45199224 single base substitution G A downstream_gene_variant ESAD-UK 17 45199224 45199224 single base substitution G A intron_variant ESAD-UK 17 45202158 45202158 single base substitution G C intron_variant ESAD-UK 17 45202158 45202158 single base substitution G C upstream_gene_variant ESAD-UK 17 45204169 45204169 single base substitution T A intron_variant ESAD-UK 17 45204169 45204169 single base substitution T A upstream_gene_variant ESAD-UK 17 45204287 45204287 single base substitution G C intron_variant ESAD-UK 17 45204287 45204287 single base substitution G C upstream_gene_variant ESAD-UK 17 45204776 45204776 single base substitution G A intron_variant ESAD-UK 17 45204776 45204776 single base substitution G A upstream_gene_variant ESAD-UK 17 45205457 45205457 single base substitution C T intron_variant ESAD-UK 17 45205457 45205457 single base substitution C T upstream_gene_variant ESAD-UK 17 45207058 45207059 deletion of <=200bp AT - intron_variant ESAD-UK 17 45207721 45207721 single base substitution G A intron_variant ESAD-UK 17 45208696 45208696 deletion of <=200bp T - intron_variant ESAD-UK 17 45210204 45210204 single base substitution C T downstream_gene_variant ESAD-UK 17 45210204 45210204 single base substitution C T intron_variant ESAD-UK 17 45215225 45215225 single base substitution G A downstream_gene_variant ESAD-UK 17 45215225 45215225 single base substitution G A intron_variant ESAD-UK 17 45215225 45215225 single base substitution G A upstream_gene_variant ESAD-UK 17 45218735 45218735 single base substitution G T downstream_gene_variant ESAD-UK 17 45218735 45218735 single base substitution G T intron_variant ESAD-UK 17 45218735 45218735 single base substitution G T upstream_gene_variant ESAD-UK 17 45222656 45222656 single base substitution A G intron_variant ESAD-UK 17 45222656 45222656 single base substitution A G upstream_gene_variant ESAD-UK 17 45222659 45222659 single base substitution A G intron_variant ESAD-UK 17 45222659 45222659 single base substitution A G upstream_gene_variant ESAD-UK 17 45227146 45227146 single base substitution C A downstream_gene_variant ESAD-UK 17 45227146 45227146 single base substitution C A intron_variant ESAD-UK 17 45228599 45228599 single base substitution A T downstream_gene_variant ESAD-UK 17 45228599 45228599 single base substitution A T intron_variant ESAD-UK 17 45229852 45229852 insertion of <=200bp - G downstream_gene_variant ESAD-UK 17 45229852 45229852 insertion of <=200bp - G intron_variant ESAD-UK 17 45232052 45232052 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 45232052 45232052 single base substitution C T downstream_gene_variant ESAD-UK 17 45232052 45232052 single base substitution C T exon_variant ESAD-UK 17 45232052 45232052 single base substitution C T missense_variant A254T 760G>A ESAD-UK 17 45232052 45232052 single base substitution C T missense_variant A315T 943G>A ESAD-UK 17 45232700 45232700 single base substitution C A downstream_gene_variant ESAD-UK 17 45232700 45232700 single base substitution C A intron_variant ESAD-UK 17 45236640 45236640 single base substitution G A intron_variant ESAD-UK 17 45236640 45236640 single base substitution G A upstream_gene_variant ESAD-UK 17 45236915 45236915 single base substitution C A intron_variant ESAD-UK 17 45236915 45236915 single base substitution C A upstream_gene_variant ESAD-UK 17 45237305 45237305 single base substitution G A intron_variant ESAD-UK 17 45237305 45237305 single base substitution G A upstream_gene_variant ESAD-UK 17 45239450 45239451 deletion of <=200bp TC - intron_variant ESAD-UK 17 45239450 45239451 deletion of <=200bp TC - upstream_gene_variant ESAD-UK 17 45244290 45244290 single base substitution G A intron_variant ESAD-UK 17 45248059 45248059 single base substitution A G intron_variant ESAD-UK 17 45248059 45248059 single base substitution A G upstream_gene_variant ESAD-UK 17 45248812 45248812 single base substitution T C intron_variant ESAD-UK 17 45248812 45248812 single base substitution T C upstream_gene_variant ESAD-UK 17 45251458 45251461 deletion of <=200bp TAAA - intron_variant ESAD-UK 17 45251458 45251461 deletion of <=200bp TAAA - upstream_gene_variant ESAD-UK 17 45252042 45252042 insertion of <=200bp - A intron_variant ESAD-UK 17 45252042 45252042 insertion of <=200bp - A upstream_gene_variant ESAD-UK 17 45253187 45253187 insertion of <=200bp - A intron_variant ESAD-UK 17 45253187 45253187 insertion of <=200bp - A upstream_gene_variant ESAD-UK 17 45254005 45254005 single base substitution A G downstream_gene_variant ESAD-UK 17 45254005 45254005 single base substitution A G intron_variant ESAD-UK 17 45254005 45254005 single base substitution A G upstream_gene_variant ESAD-UK 17 45254495 45254495 single base substitution T C downstream_gene_variant ESAD-UK 17 45254495 45254495 single base substitution T C intron_variant ESAD-UK 17 45254558 45254558 single base substitution G A downstream_gene_variant ESAD-UK 17 45254558 45254558 single base substitution G A intron_variant ESAD-UK 17 45254810 45254810 single base substitution G A downstream_gene_variant ESAD-UK 17 45254810 45254810 single base substitution G A intron_variant ESAD-UK 17 45257959 45257959 single base substitution C G downstream_gene_variant ESAD-UK 17 45257959 45257959 single base substitution C G intron_variant ESAD-UK 17 45258687 45258687 single base substitution C A exon_variant ESAD-UK 17 45258687 45258687 single base substitution C A intron_variant ESAD-UK 17 45259095 45259095 single base substitution A T intron_variant ESAD-UK 17 45259095 45259095 single base substitution A T upstream_gene_variant ESAD-UK 17 45259726 45259727 deletion of <=200bp AA - intron_variant ESAD-UK 17 45259726 45259727 deletion of <=200bp AA - upstream_gene_variant ESAD-UK 17 45259921 45259921 single base substitution A G intron_variant ESAD-UK 17 45259921 45259921 single base substitution A G upstream_gene_variant ESAD-UK 17 45266004 45266004 insertion of <=200bp - C intron_variant ESAD-UK 17 45266802 45266802 single base substitution G C upstream_gene_variant ESAD-UK 17 45268916 45268916 single base substitution G A upstream_gene_variant ESAD-UK 17 45269676 45269676 single base substitution C T upstream_gene_variant ESAD-UK 17 45270490 45270490 single base substitution C T upstream_gene_variant ESAD-UK 17 45270577 45270577 single base substitution C G upstream_gene_variant ESCA-CN 17 45234300 45234300 single base substitution G T 3_prime_UTR_variant ESCA-CN 17 45234300 45234300 single base substitution G T downstream_gene_variant ESCA-CN 17 45234300 45234300 single base substitution G T exon_variant ESCA-CN 17 45234300 45234300 single base substitution G T intron_variant ESCA-CN 17 45234300 45234300 single base substitution G T missense_variant A213D 638C>A ESCA-CN 17 45234300 45234300 single base substitution G T missense_variant A227D 680C>A ESCA-CN 17 45234300 45234300 single base substitution G T missense_variant A274D 821C>A ESCA-CN 17 45234300 45234300 single base substitution G T upstream_gene_variant GBM-US 17 45219355 45219355 deletion of <=200bp C - 3_prime_UTR_variant GBM-US 17 45219355 45219355 deletion of <=200bp C - downstream_gene_variant GBM-US 17 45219355 45219355 deletion of <=200bp C - exon_variant GBM-US 17 45219355 45219355 deletion of <=200bp C - frameshift_variant G411 GBM-US 17 45219355 45219355 deletion of <=200bp C - frameshift_variant G471 GBM-US 17 45219355 45219355 deletion of <=200bp C - frameshift_variant G472 GBM-US 17 45219355 45219355 deletion of <=200bp C - frameshift_variant G478 GBM-US 17 45219355 45219355 deletion of <=200bp C - intron_variant GBM-US 17 45219355 45219355 deletion of <=200bp C - upstream_gene_variant GBM-US 17 45219612 45219612 deletion of <=200bp A - 3_prime_UTR_variant GBM-US 17 45219612 45219612 deletion of <=200bp A - downstream_gene_variant GBM-US 17 45219612 45219612 deletion of <=200bp A - exon_variant GBM-US 17 45219612 45219612 deletion of <=200bp A - frameshift_variant L393 GBM-US 17 45219612 45219612 deletion of <=200bp A - frameshift_variant L454 GBM-US 17 45219612 45219612 deletion of <=200bp A - frameshift_variant L460 GBM-US 17 45219612 45219612 deletion of <=200bp A - intron_variant GBM-US 17 45247352 45247352 single base substitution T C exon_variant GBM-US 17 45247352 45247352 single base substitution T C intron_variant GBM-US 17 45247352 45247352 single base substitution T C missense_variant H103R 308A>G GBM-US 17 45247352 45247352 single base substitution T C missense_variant H42R 125A>G GBM-US 17 45247352 45247352 single base substitution T C upstream_gene_variant KIRC-US 17 45216160 45216160 single base substitution A C 3_prime_UTR_variant KIRC-US 17 45216160 45216160 single base substitution A C downstream_gene_variant KIRC-US 17 45216160 45216160 single base substitution A C intron_variant KIRC-US 17 45216160 45216160 single base substitution A C missense_variant V489G 1466T>G KIRC-US 17 45216160 45216160 single base substitution A C missense_variant V549G 1646T>G KIRC-US 17 45216160 45216160 single base substitution A C missense_variant V550G 1649T>G KIRC-US 17 45216160 45216160 single base substitution A C missense_variant V556G 1667T>G KIRC-US 17 45216160 45216160 single base substitution A C upstream_gene_variant KIRC-US 17 45219300 45219300 single base substitution A T 3_prime_UTR_variant KIRC-US 17 45219300 45219300 single base substitution A T downstream_gene_variant KIRC-US 17 45219300 45219300 single base substitution A T exon_variant KIRC-US 17 45219300 45219300 single base substitution A T intron_variant KIRC-US 17 45219300 45219300 single base substitution A T missense_variant H429Q 1287T>A KIRC-US 17 45219300 45219300 single base substitution A T missense_variant H489Q 1467T>A KIRC-US 17 45219300 45219300 single base substitution A T missense_variant H490Q 1470T>A KIRC-US 17 45219300 45219300 single base substitution A T missense_variant H496Q 1488T>A KIRC-US 17 45219300 45219300 single base substitution A T upstream_gene_variant KIRC-US 17 45234350 45234350 single base substitution C T 3_prime_UTR_variant KIRC-US 17 45234350 45234350 single base substitution C T downstream_gene_variant KIRC-US 17 45234350 45234350 single base substitution C T exon_variant KIRC-US 17 45234350 45234350 single base substitution C T intron_variant KIRC-US 17 45234350 45234350 single base substitution C T splice_acceptor_variant KIRC-US 17 45234350 45234350 single base substitution C T synonymous_variant Q196Q 588G>A KIRC-US 17 45234350 45234350 single base substitution C T synonymous_variant Q257Q 771G>A KIRC-US 17 45234350 45234350 single base substitution C T upstream_gene_variant KIRP-US 17 45219612 45219612 deletion of <=200bp A - 3_prime_UTR_variant KIRP-US 17 45219612 45219612 deletion of <=200bp A - downstream_gene_variant KIRP-US 17 45219612 45219612 deletion of <=200bp A - exon_variant KIRP-US 17 45219612 45219612 deletion of <=200bp A - frameshift_variant L393 KIRP-US 17 45219612 45219612 deletion of <=200bp A - frameshift_variant L454 KIRP-US 17 45219612 45219612 deletion of <=200bp A - frameshift_variant L460 KIRP-US 17 45219612 45219612 deletion of <=200bp A - intron_variant LAML-CN 17 45219310 45219310 single base substitution A G 3_prime_UTR_variant LAML-CN 17 45219310 45219310 single base substitution A G downstream_gene_variant LAML-CN 17 45219310 45219310 single base substitution A G exon_variant LAML-CN 17 45219310 45219310 single base substitution A G intron_variant LAML-CN 17 45219310 45219310 single base substitution A G missense_variant I426T 1277T>C LAML-CN 17 45219310 45219310 single base substitution A G missense_variant I486T 1457T>C LAML-CN 17 45219310 45219310 single base substitution A G missense_variant I487T 1460T>C LAML-CN 17 45219310 45219310 single base substitution A G missense_variant I493T 1478T>C LAML-CN 17 45219310 45219310 single base substitution A G upstream_gene_variant LAML-KR 17 45191875 45191875 single base substitution T G downstream_gene_variant LAML-KR 17 45214466 45214466 single base substitution A G downstream_gene_variant LAML-KR 17 45214466 45214466 single base substitution A G intron_variant LAML-KR 17 45214484 45214484 single base substitution T C downstream_gene_variant LAML-KR 17 45214484 45214484 single base substitution T C intron_variant LAML-KR 17 45214486 45214486 single base substitution C A downstream_gene_variant LAML-KR 17 45214486 45214486 single base substitution C A intron_variant LAML-KR 17 45214499 45214499 single base substitution G A downstream_gene_variant LAML-KR 17 45214499 45214499 single base substitution G A intron_variant LAML-KR 17 45214527 45214527 single base substitution T C 3_prime_UTR_variant LAML-KR 17 45214527 45214527 single base substitution T C downstream_gene_variant LAML-KR 17 45214527 45214527 single base substitution T C intron_variant LAML-KR 17 45214527 45214527 single base substitution T C missense_variant Y28C 83A>G LAML-KR 17 45214527 45214527 single base substitution T C missense_variant Y574C 1721A>G LAML-KR 17 45214527 45214527 single base substitution T C missense_variant Y634C 1901A>G LAML-KR 17 45214527 45214527 single base substitution T C missense_variant Y635C 1904A>G LAML-KR 17 45214527 45214527 single base substitution T C missense_variant Y641C 1922A>G LAML-KR 17 45214604 45214604 single base substitution A T 3_prime_UTR_variant LAML-KR 17 45214604 45214604 single base substitution A T downstream_gene_variant LAML-KR 17 45214604 45214604 single base substitution A T intron_variant LAML-KR 17 45214604 45214604 single base substitution A T missense_variant H2Q 6T>A LAML-KR 17 45214604 45214604 single base substitution A T missense_variant H548Q 1644T>A LAML-KR 17 45214604 45214604 single base substitution A T missense_variant H608Q 1824T>A LAML-KR 17 45214604 45214604 single base substitution A T missense_variant H609Q 1827T>A LAML-KR 17 45214604 45214604 single base substitution A T missense_variant H615Q 1845T>A LAML-KR 17 45214605 45214605 single base substitution T C 3_prime_UTR_variant LAML-KR 17 45214605 45214605 single base substitution T C downstream_gene_variant LAML-KR 17 45214605 45214605 single base substitution T C intron_variant LAML-KR 17 45214605 45214605 single base substitution T C missense_variant H2R 5A>G LAML-KR 17 45214605 45214605 single base substitution T C missense_variant H548R 1643A>G LAML-KR 17 45214605 45214605 single base substitution T C missense_variant H608R 1823A>G LAML-KR 17 45214605 45214605 single base substitution T C missense_variant H609R 1826A>G LAML-KR 17 45214605 45214605 single base substitution T C missense_variant H615R 1844A>G LAML-KR 17 45214631 45214631 single base substitution G A 3_prime_UTR_variant LAML-KR 17 45214631 45214631 single base substitution G A downstream_gene_variant LAML-KR 17 45214631 45214631 single base substitution G A intron_variant LAML-KR 17 45214631 45214631 single base substitution G A synonymous_variant Y539Y 1617C>T LAML-KR 17 45214631 45214631 single base substitution G A synonymous_variant Y599Y 1797C>T LAML-KR 17 45214631 45214631 single base substitution G A synonymous_variant Y600Y 1800C>T LAML-KR 17 45214631 45214631 single base substitution G A synonymous_variant Y606Y 1818C>T LAML-KR 17 45214631 45214631 single base substitution G A upstream_gene_variant LAML-KR 17 45214643 45214643 single base substitution A T 3_prime_UTR_variant LAML-KR 17 45214643 45214643 single base substitution A T downstream_gene_variant LAML-KR 17 45214643 45214643 single base substitution A T intron_variant LAML-KR 17 45214643 45214643 single base substitution A T synonymous_variant V535V 1605T>A LAML-KR 17 45214643 45214643 single base substitution A T synonymous_variant V595V 1785T>A LAML-KR 17 45214643 45214643 single base substitution A T synonymous_variant V596V 1788T>A LAML-KR 17 45214643 45214643 single base substitution A T synonymous_variant V602V 1806T>A LAML-KR 17 45214643 45214643 single base substitution A T upstream_gene_variant LAML-KR 17 45214682 45214682 single base substitution A G 3_prime_UTR_variant LAML-KR 17 45214682 45214682 single base substitution A G downstream_gene_variant LAML-KR 17 45214682 45214682 single base substitution A G intron_variant LAML-KR 17 45214682 45214682 single base substitution A G synonymous_variant H522H 1566T>C LAML-KR 17 45214682 45214682 single base substitution A G synonymous_variant H582H 1746T>C LAML-KR 17 45214682 45214682 single base substitution A G synonymous_variant H583H 1749T>C LAML-KR 17 45214682 45214682 single base substitution A G synonymous_variant H589H 1767T>C LAML-KR 17 45214682 45214682 single base substitution A G upstream_gene_variant LAML-KR 17 45214690 45214690 single base substitution G A 3_prime_UTR_variant LAML-KR 17 45214690 45214690 single base substitution G A downstream_gene_variant LAML-KR 17 45214690 45214690 single base substitution G A intron_variant LAML-KR 17 45214690 45214690 single base substitution G A missense_variant R520W 1558C>T LAML-KR 17 45214690 45214690 single base substitution G A missense_variant R580W 1738C>T LAML-KR 17 45214690 45214690 single base substitution G A missense_variant R581W 1741C>T LAML-KR 17 45214690 45214690 single base substitution G A missense_variant R587W 1759C>T LAML-KR 17 45214690 45214690 single base substitution G A upstream_gene_variant LAML-KR 17 45219311 45219311 single base substitution T C 3_prime_UTR_variant LAML-KR 17 45219311 45219311 single base substitution T C downstream_gene_variant LAML-KR 17 45219311 45219311 single base substitution T C exon_variant LAML-KR 17 45219311 45219311 single base substitution T C intron_variant LAML-KR 17 45219311 45219311 single base substitution T C missense_variant I426V 1276A>G LAML-KR 17 45219311 45219311 single base substitution T C missense_variant I486V 1456A>G LAML-KR 17 45219311 45219311 single base substitution T C missense_variant I487V 1459A>G LAML-KR 17 45219311 45219311 single base substitution T C missense_variant I493V 1477A>G LAML-KR 17 45219311 45219311 single base substitution T C upstream_gene_variant LAML-KR 17 45234300 45234300 single base substitution G T 3_prime_UTR_variant LAML-KR 17 45234300 45234300 single base substitution G T downstream_gene_variant LAML-KR 17 45234300 45234300 single base substitution G T exon_variant LAML-KR 17 45234300 45234300 single base substitution G T intron_variant LAML-KR 17 45234300 45234300 single base substitution G T missense_variant A213D 638C>A LAML-KR 17 45234300 45234300 single base substitution G T missense_variant A227D 680C>A LAML-KR 17 45234300 45234300 single base substitution G T missense_variant A274D 821C>A LAML-KR 17 45234300 45234300 single base substitution G T upstream_gene_variant LAML-KR 17 45234325 45234325 single base substitution G A 3_prime_UTR_variant LAML-KR 17 45234325 45234325 single base substitution G A downstream_gene_variant LAML-KR 17 45234325 45234325 single base substitution G A exon_variant LAML-KR 17 45234325 45234325 single base substitution G A intron_variant LAML-KR 17 45234325 45234325 single base substitution G A stop_gained R205* 613C>T LAML-KR 17 45234325 45234325 single base substitution G A stop_gained R219* 655C>T LAML-KR 17 45234325 45234325 single base substitution G A stop_gained R266* 796C>T LAML-KR 17 45234325 45234325 single base substitution G A upstream_gene_variant LAML-KR 17 45234327 45234327 single base substitution C T 3_prime_UTR_variant LAML-KR 17 45234327 45234327 single base substitution C T downstream_gene_variant LAML-KR 17 45234327 45234327 single base substitution C T exon_variant LAML-KR 17 45234327 45234327 single base substitution C T intron_variant LAML-KR 17 45234327 45234327 single base substitution C T missense_variant G204D 611G>A LAML-KR 17 45234327 45234327 single base substitution C T missense_variant G218D 653G>A LAML-KR 17 45234327 45234327 single base substitution C T missense_variant G265D 794G>A LAML-KR 17 45234327 45234327 single base substitution C T upstream_gene_variant LAML-KR 17 45234350 45234350 single base substitution C T 3_prime_UTR_variant LAML-KR 17 45234350 45234350 single base substitution C T downstream_gene_variant LAML-KR 17 45234350 45234350 single base substitution C T exon_variant LAML-KR 17 45234350 45234350 single base substitution C T intron_variant LAML-KR 17 45234350 45234350 single base substitution C T splice_acceptor_variant LAML-KR 17 45234350 45234350 single base substitution C T synonymous_variant Q196Q 588G>A LAML-KR 17 45234350 45234350 single base substitution C T synonymous_variant Q257Q 771G>A LAML-KR 17 45234350 45234350 single base substitution C T upstream_gene_variant LAML-KR 17 45234397 45234397 single base substitution G A 3_prime_UTR_variant LAML-KR 17 45234397 45234397 single base substitution G A downstream_gene_variant LAML-KR 17 45234397 45234397 single base substitution G A exon_variant LAML-KR 17 45234397 45234397 single base substitution G A intron_variant LAML-KR 17 45234397 45234397 single base substitution G A missense_variant P181S 541C>T LAML-KR 17 45234397 45234397 single base substitution G A missense_variant P242S 724C>T LAML-KR 17 45234397 45234397 single base substitution G A upstream_gene_variant LAML-KR 17 45234417 45234417 single base substitution A G 3_prime_UTR_variant LAML-KR 17 45234417 45234417 single base substitution A G downstream_gene_variant LAML-KR 17 45234417 45234417 single base substitution A G exon_variant LAML-KR 17 45234417 45234417 single base substitution A G intron_variant LAML-KR 17 45234417 45234417 single base substitution A G missense_variant I174T 521T>C LAML-KR 17 45234417 45234417 single base substitution A G missense_variant I235T 704T>C LAML-KR 17 45234417 45234417 single base substitution A G upstream_gene_variant LAML-KR 17 45234430 45234430 single base substitution A G 3_prime_UTR_variant LAML-KR 17 45234430 45234430 single base substitution A G downstream_gene_variant LAML-KR 17 45234430 45234430 single base substitution A G exon_variant LAML-KR 17 45234430 45234430 single base substitution A G intron_variant LAML-KR 17 45234430 45234430 single base substitution A G missense_variant S170P 508T>C LAML-KR 17 45234430 45234430 single base substitution A G missense_variant S231P 691T>C LAML-KR 17 45234430 45234430 single base substitution A G upstream_gene_variant LAML-KR 17 45234449 45234449 single base substitution G A 3_prime_UTR_variant LAML-KR 17 45234449 45234449 single base substitution G A downstream_gene_variant LAML-KR 17 45234449 45234449 single base substitution G A exon_variant LAML-KR 17 45234449 45234449 single base substitution G A intron_variant LAML-KR 17 45234449 45234449 single base substitution G A synonymous_variant Y163Y 489C>T LAML-KR 17 45234449 45234449 single base substitution G A synonymous_variant Y224Y 672C>T LAML-KR 17 45234449 45234449 single base substitution G A upstream_gene_variant LAML-KR 17 45234657 45234657 single base substitution T C 3_prime_UTR_variant LAML-KR 17 45234657 45234657 single base substitution T C exon_variant LAML-KR 17 45234657 45234657 single base substitution T C intron_variant LAML-KR 17 45234657 45234657 single base substitution T C missense_variant N129S 386A>G LAML-KR 17 45234657 45234657 single base substitution T C missense_variant N190S 569A>G LAML-KR 17 45234657 45234657 single base substitution T C upstream_gene_variant LAML-KR 17 45234725 45234725 single base substitution T C 3_prime_UTR_variant LAML-KR 17 45234725 45234725 single base substitution T C exon_variant LAML-KR 17 45234725 45234725 single base substitution T C intron_variant LAML-KR 17 45234725 45234725 single base substitution T C synonymous_variant T106T 318A>G LAML-KR 17 45234725 45234725 single base substitution T C synonymous_variant T167T 501A>G LAML-KR 17 45234725 45234725 single base substitution T C upstream_gene_variant LGG-US 17 45219612 45219612 deletion of <=200bp A - 3_prime_UTR_variant LGG-US 17 45219612 45219612 deletion of <=200bp A - downstream_gene_variant LGG-US 17 45219612 45219612 deletion of <=200bp A - exon_variant LGG-US 17 45219612 45219612 deletion of <=200bp A - frameshift_variant L393 LGG-US 17 45219612 45219612 deletion of <=200bp A - frameshift_variant L454 LGG-US 17 45219612 45219612 deletion of <=200bp A - frameshift_variant L460 LGG-US 17 45219612 45219612 deletion of <=200bp A - intron_variant LGG-US 17 45247389 45247389 deletion of <=200bp T - exon_variant LGG-US 17 45247389 45247389 deletion of <=200bp T - frameshift_variant I30 LGG-US 17 45247389 45247389 deletion of <=200bp T - frameshift_variant I91 LGG-US 17 45247389 45247389 deletion of <=200bp T - intron_variant LGG-US 17 45247389 45247389 deletion of <=200bp T - upstream_gene_variant LICA-CN 17 45209654 45209654 single base substitution T G 3_prime_UTR_variant LICA-CN 17 45209654 45209654 single base substitution T G downstream_gene_variant LICA-CN 17 45209654 45209654 single base substitution T G missense_variant Q606P 1817A>C LICA-CN 17 45209654 45209654 single base substitution T G missense_variant Q60P 179A>C LICA-CN 17 45209654 45209654 single base substitution T G missense_variant Q666P 1997A>C LICA-CN 17 45209654 45209654 single base substitution T G missense_variant Q667P 2000A>C LICA-CN 17 45209654 45209654 single base substitution T G missense_variant Q673P 2018A>C LICA-CN 17 45234432 45234432 single base substitution G T 3_prime_UTR_variant LICA-CN 17 45234432 45234432 single base substitution G T downstream_gene_variant LICA-CN 17 45234432 45234432 single base substitution G T exon_variant LICA-CN 17 45234432 45234432 single base substitution G T intron_variant LICA-CN 17 45234432 45234432 single base substitution G T missense_variant S169Y 506C>A LICA-CN 17 45234432 45234432 single base substitution G T missense_variant S230Y 689C>A LICA-CN 17 45234432 45234432 single base substitution G T upstream_gene_variant LICA-FR 17 45198627 45198627 insertion of <=200bp - AGTT downstream_gene_variant LICA-FR 17 45198627 45198627 insertion of <=200bp - AGTT intron_variant LICA-FR 17 45210082 45210082 single base substitution C A downstream_gene_variant LICA-FR 17 45210082 45210082 single base substitution C A intron_variant LICA-FR 17 45210083 45210083 single base substitution C A downstream_gene_variant LICA-FR 17 45210083 45210083 single base substitution C A intron_variant LICA-FR 17 45227834 45227834 single base substitution T C downstream_gene_variant LICA-FR 17 45227834 45227834 single base substitution T C intron_variant LICA-FR 17 45229175 45229175 single base substitution G A 3_prime_UTR_variant LICA-FR 17 45229175 45229175 single base substitution G A downstream_gene_variant LICA-FR 17 45229175 45229175 single base substitution G A exon_variant LICA-FR 17 45229175 45229175 single base substitution G A intron_variant LICA-FR 17 45229175 45229175 single base substitution G A missense_variant T295I 884C>T LICA-FR 17 45229175 45229175 single base substitution G A missense_variant T356I 1067C>T LICA-FR 17 45229175 45229175 single base substitution G A missense_variant T362I 1085C>T LICA-FR 17 45231455 45231455 deletion of <=200bp A - downstream_gene_variant LICA-FR 17 45231455 45231455 deletion of <=200bp A - intron_variant LICA-FR 17 45251568 45251568 single base substitution G A intron_variant LICA-FR 17 45251568 45251568 single base substitution G A upstream_gene_variant LICA-FR 17 45258971 45258971 single base substitution A G 5_prime_UTR_variant LICA-FR 17 45258971 45258971 single base substitution A G exon_variant LICA-FR 17 45258971 45258971 single base substitution A G synonymous_variant A20A 60T>C LICA-FR 17 45258971 45258971 single base substitution A G synonymous_variant L9L 25T>C LIHC-US 17 45234327 45234327 single base substitution C T 3_prime_UTR_variant LIHC-US 17 45234327 45234327 single base substitution C T downstream_gene_variant LIHC-US 17 45234327 45234327 single base substitution C T exon_variant LIHC-US 17 45234327 45234327 single base substitution C T intron_variant LIHC-US 17 45234327 45234327 single base substitution C T missense_variant G204D 611G>A LIHC-US 17 45234327 45234327 single base substitution C T missense_variant G218D 653G>A LIHC-US 17 45234327 45234327 single base substitution C T missense_variant G265D 794G>A LIHC-US 17 45234327 45234327 single base substitution C T upstream_gene_variant LIHC-US 17 45247316 45247316 single base substitution C T exon_variant LIHC-US 17 45247316 45247316 single base substitution C T intron_variant LIHC-US 17 45247316 45247316 single base substitution C T missense_variant C115Y 344G>A LIHC-US 17 45247316 45247316 single base substitution C T missense_variant C54Y 161G>A LINC-JP 17 45201046 45201046 single base substitution G C intron_variant LINC-JP 17 45203834 45203834 single base substitution T C intron_variant LINC-JP 17 45203834 45203834 single base substitution T C upstream_gene_variant LINC-JP 17 45209201 45209201 single base substitution A G intron_variant LINC-JP 17 45209642 45209642 single base substitution A C 3_prime_UTR_variant LINC-JP 17 45209642 45209642 single base substitution A C downstream_gene_variant LINC-JP 17 45209642 45209642 single base substitution A C stop_gained L610* 1829T>G LINC-JP 17 45209642 45209642 single base substitution A C stop_gained L64* 191T>G LINC-JP 17 45209642 45209642 single base substitution A C stop_gained L670* 2009T>G LINC-JP 17 45209642 45209642 single base substitution A C stop_gained L671* 2012T>G LINC-JP 17 45209642 45209642 single base substitution A C stop_gained L677* 2030T>G LINC-JP 17 45213534 45213534 single base substitution A G downstream_gene_variant LINC-JP 17 45213534 45213534 single base substitution A G intron_variant LINC-JP 17 45213691 45213691 insertion of <=200bp - A downstream_gene_variant LINC-JP 17 45213691 45213691 insertion of <=200bp - A intron_variant LINC-JP 17 45213703 45213703 single base substitution A G downstream_gene_variant LINC-JP 17 45213703 45213703 single base substitution A G intron_variant LINC-JP 17 45213782 45213782 insertion of <=200bp - AGTC downstream_gene_variant LINC-JP 17 45213782 45213782 insertion of <=200bp - AGTC intron_variant LINC-JP 17 45214041 45214041 single base substitution A T downstream_gene_variant LINC-JP 17 45214041 45214041 single base substitution A T intron_variant LINC-JP 17 45214062 45214062 single base substitution A C downstream_gene_variant LINC-JP 17 45214062 45214062 single base substitution A C intron_variant LINC-JP 17 45214103 45214103 single base substitution A G downstream_gene_variant LINC-JP 17 45214103 45214103 single base substitution A G intron_variant LINC-JP 17 45214206 45214206 single base substitution T C downstream_gene_variant LINC-JP 17 45214206 45214206 single base substitution T C intron_variant LINC-JP 17 45214232 45214232 single base substitution A C downstream_gene_variant LINC-JP 17 45214232 45214232 single base substitution A C intron_variant LINC-JP 17 45214646 45214646 single base substitution T C 3_prime_UTR_variant LINC-JP 17 45214646 45214646 single base substitution T C downstream_gene_variant LINC-JP 17 45214646 45214646 single base substitution T C intron_variant LINC-JP 17 45214646 45214646 single base substitution T C synonymous_variant Q534Q 1602A>G LINC-JP 17 45214646 45214646 single base substitution T C synonymous_variant Q594Q 1782A>G LINC-JP 17 45214646 45214646 single base substitution T C synonymous_variant Q595Q 1785A>G LINC-JP 17 45214646 45214646 single base substitution T C synonymous_variant Q601Q 1803A>G LINC-JP 17 45214646 45214646 single base substitution T C upstream_gene_variant LINC-JP 17 45214858 45214858 single base substitution T C downstream_gene_variant LINC-JP 17 45214858 45214858 single base substitution T C intron_variant LINC-JP 17 45214858 45214858 single base substitution T C upstream_gene_variant LINC-JP 17 45216210 45216210 single base substitution A G 3_prime_UTR_variant LINC-JP 17 45216210 45216210 single base substitution A G downstream_gene_variant LINC-JP 17 45216210 45216210 single base substitution A G intron_variant LINC-JP 17 45216210 45216210 single base substitution A G synonymous_variant V472V 1416T>C LINC-JP 17 45216210 45216210 single base substitution A G synonymous_variant V532V 1596T>C LINC-JP 17 45216210 45216210 single base substitution A G synonymous_variant V533V 1599T>C LINC-JP 17 45216210 45216210 single base substitution A G synonymous_variant V539V 1617T>C LINC-JP 17 45216210 45216210 single base substitution A G upstream_gene_variant LINC-JP 17 45219364 45219364 single base substitution A C 3_prime_UTR_variant LINC-JP 17 45219364 45219364 single base substitution A C downstream_gene_variant LINC-JP 17 45219364 45219364 single base substitution A C exon_variant LINC-JP 17 45219364 45219364 single base substitution A C intron_variant LINC-JP 17 45219364 45219364 single base substitution A C missense_variant M408R 1223T>G LINC-JP 17 45219364 45219364 single base substitution A C missense_variant M468R 1403T>G LINC-JP 17 45219364 45219364 single base substitution A C missense_variant M469R 1406T>G LINC-JP 17 45219364 45219364 single base substitution A C missense_variant M475R 1424T>G LINC-JP 17 45219364 45219364 single base substitution A C upstream_gene_variant LINC-JP 17 45230472 45230472 single base substitution T C downstream_gene_variant LINC-JP 17 45230472 45230472 single base substitution T C intron_variant LINC-JP 17 45234707 45234707 single base substitution T A 3_prime_UTR_variant LINC-JP 17 45234707 45234707 single base substitution T A exon_variant LINC-JP 17 45234707 45234707 single base substitution T A intron_variant LINC-JP 17 45234707 45234707 single base substitution T A missense_variant L112F 336A>T LINC-JP 17 45234707 45234707 single base substitution T A missense_variant L173F 519A>T LINC-JP 17 45234707 45234707 single base substitution T A upstream_gene_variant LINC-JP 17 45234931 45234931 single base substitution T C intron_variant LINC-JP 17 45234931 45234931 single base substitution T C upstream_gene_variant LINC-JP 17 45237368 45237368 deletion of <=200bp T - intron_variant LINC-JP 17 45237368 45237368 deletion of <=200bp T - upstream_gene_variant LINC-JP 17 45243550 45243550 single base substitution G A intron_variant LINC-JP 17 45248932 45248932 deletion of <=200bp T - intron_variant LINC-JP 17 45248932 45248932 deletion of <=200bp T - upstream_gene_variant LINC-JP 17 45248937 45248937 single base substitution A T intron_variant LINC-JP 17 45248937 45248937 single base substitution A T upstream_gene_variant LINC-JP 17 45249508 45249508 single base substitution T A intron_variant LINC-JP 17 45249508 45249508 single base substitution T A upstream_gene_variant LINC-JP 17 45249513 45249513 deletion of <=200bp A - intron_variant LINC-JP 17 45249513 45249513 deletion of <=200bp A - upstream_gene_variant LINC-JP 17 45254083 45254083 single base substitution T C downstream_gene_variant LINC-JP 17 45254083 45254083 single base substitution T C intron_variant LINC-JP 17 45254083 45254083 single base substitution T C upstream_gene_variant LINC-JP 17 45254803 45254803 single base substitution C T downstream_gene_variant LINC-JP 17 45254803 45254803 single base substitution C T intron_variant LINC-JP 17 45266655 45266655 single base substitution G T exon_variant LINC-JP 17 45266655 45266655 single base substitution G T upstream_gene_variant LINC-JP 17 45266725 45266725 single base substitution C T exon_variant LINC-JP 17 45266725 45266725 single base substitution C T upstream_gene_variant LIRI-JP 17 45190722 45190722 single base substitution C G downstream_gene_variant LIRI-JP 17 45192622 45192622 single base substitution G T downstream_gene_variant LIRI-JP 17 45193020 45193020 single base substitution T G downstream_gene_variant LIRI-JP 17 45195682 45195682 deletion of <=200bp T - 3_prime_UTR_variant LIRI-JP 17 45195682 45195682 deletion of <=200bp T - downstream_gene_variant LIRI-JP 17 45197810 45197810 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 45197810 45197810 single base substitution T C downstream_gene_variant LIRI-JP 17 45197951 45197951 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 45197951 45197951 single base substitution T C downstream_gene_variant LIRI-JP 17 45197981 45197981 single base substitution C A 3_prime_UTR_variant LIRI-JP 17 45197981 45197981 single base substitution C A downstream_gene_variant LIRI-JP 17 45204100 45204100 single base substitution T C intron_variant LIRI-JP 17 45204100 45204100 single base substitution T C upstream_gene_variant LIRI-JP 17 45206913 45206913 single base substitution T G intron_variant LIRI-JP 17 45207188 45207188 single base substitution T C intron_variant LIRI-JP 17 45208731 45208731 single base substitution T C intron_variant LIRI-JP 17 45213449 45213449 single base substitution A T downstream_gene_variant LIRI-JP 17 45213449 45213449 single base substitution A T intron_variant LIRI-JP 17 45215908 45215908 single base substitution T C downstream_gene_variant LIRI-JP 17 45215908 45215908 single base substitution T C intron_variant LIRI-JP 17 45215908 45215908 single base substitution T C upstream_gene_variant LIRI-JP 17 45216412 45216412 single base substitution T C downstream_gene_variant LIRI-JP 17 45216412 45216412 single base substitution T C intron_variant LIRI-JP 17 45216412 45216412 single base substitution T C upstream_gene_variant LIRI-JP 17 45216956 45216956 single base substitution G A downstream_gene_variant LIRI-JP 17 45216956 45216956 single base substitution G A intron_variant LIRI-JP 17 45216956 45216956 single base substitution G A upstream_gene_variant LIRI-JP 17 45217934 45217934 single base substitution T C downstream_gene_variant LIRI-JP 17 45217934 45217934 single base substitution T C intron_variant LIRI-JP 17 45217934 45217934 single base substitution T C upstream_gene_variant LIRI-JP 17 45218827 45218827 single base substitution T C downstream_gene_variant LIRI-JP 17 45218827 45218827 single base substitution T C intron_variant LIRI-JP 17 45218827 45218827 single base substitution T C upstream_gene_variant LIRI-JP 17 45218930 45218930 single base substitution T C downstream_gene_variant LIRI-JP 17 45218930 45218930 single base substitution T C intron_variant LIRI-JP 17 45218930 45218930 single base substitution T C upstream_gene_variant LIRI-JP 17 45219172 45219172 single base substitution T C downstream_gene_variant LIRI-JP 17 45219172 45219172 single base substitution T C intron_variant LIRI-JP 17 45219172 45219172 single base substitution T C upstream_gene_variant LIRI-JP 17 45219302 45219302 single base substitution G A 3_prime_UTR_variant LIRI-JP 17 45219302 45219302 single base substitution G A downstream_gene_variant LIRI-JP 17 45219302 45219302 single base substitution G A exon_variant LIRI-JP 17 45219302 45219302 single base substitution G A intron_variant LIRI-JP 17 45219302 45219302 single base substitution G A missense_variant H429Y 1285C>T LIRI-JP 17 45219302 45219302 single base substitution G A missense_variant H489Y 1465C>T LIRI-JP 17 45219302 45219302 single base substitution G A missense_variant H490Y 1468C>T LIRI-JP 17 45219302 45219302 single base substitution G A missense_variant H496Y 1486C>T LIRI-JP 17 45219302 45219302 single base substitution G A upstream_gene_variant LIRI-JP 17 45220694 45220694 single base substitution A C downstream_gene_variant LIRI-JP 17 45220694 45220694 single base substitution A C intron_variant LIRI-JP 17 45220694 45220694 single base substitution A C upstream_gene_variant LIRI-JP 17 45222495 45222495 single base substitution T C intron_variant LIRI-JP 17 45222495 45222495 single base substitution T C upstream_gene_variant LIRI-JP 17 45222924 45222924 single base substitution A T intron_variant LIRI-JP 17 45222924 45222924 single base substitution A T upstream_gene_variant LIRI-JP 17 45225918 45225918 single base substitution A C downstream_gene_variant LIRI-JP 17 45225918 45225918 single base substitution A C intron_variant LIRI-JP 17 45228111 45228111 single base substitution A C downstream_gene_variant LIRI-JP 17 45228111 45228111 single base substitution A C intron_variant LIRI-JP 17 45229229 45229229 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 45229229 45229229 single base substitution T C downstream_gene_variant LIRI-JP 17 45229229 45229229 single base substitution T C exon_variant LIRI-JP 17 45229229 45229229 single base substitution T C intron_variant LIRI-JP 17 45229229 45229229 single base substitution T C missense_variant N277S 830A>G LIRI-JP 17 45229229 45229229 single base substitution T C missense_variant N338S 1013A>G LIRI-JP 17 45229229 45229229 single base substitution T C missense_variant N344S 1031A>G LIRI-JP 17 45232012 45232012 single base substitution C A downstream_gene_variant LIRI-JP 17 45232012 45232012 single base substitution C A intron_variant LIRI-JP 17 45232476 45232476 deletion of <=200bp T - downstream_gene_variant LIRI-JP 17 45232476 45232476 deletion of <=200bp T - intron_variant LIRI-JP 17 45234303 45234303 single base substitution G C 3_prime_UTR_variant LIRI-JP 17 45234303 45234303 single base substitution G C downstream_gene_variant LIRI-JP 17 45234303 45234303 single base substitution G C exon_variant LIRI-JP 17 45234303 45234303 single base substitution G C intron_variant LIRI-JP 17 45234303 45234303 single base substitution G C missense_variant A212G 635C>G LIRI-JP 17 45234303 45234303 single base substitution G C missense_variant A226G 677C>G LIRI-JP 17 45234303 45234303 single base substitution G C missense_variant A273G 818C>G LIRI-JP 17 45234303 45234303 single base substitution G C upstream_gene_variant LIRI-JP 17 45235473 45235473 single base substitution T A intron_variant LIRI-JP 17 45235473 45235473 single base substitution T A upstream_gene_variant LIRI-JP 17 45237239 45237239 single base substitution G A intron_variant LIRI-JP 17 45237239 45237239 single base substitution G A upstream_gene_variant LIRI-JP 17 45238113 45238113 single base substitution T C intron_variant LIRI-JP 17 45238113 45238113 single base substitution T C upstream_gene_variant LIRI-JP 17 45241731 45241731 single base substitution T A intron_variant LIRI-JP 17 45245369 45245369 single base substitution C T intron_variant LIRI-JP 17 45246216 45246216 single base substitution T C intron_variant LIRI-JP 17 45247681 45247681 single base substitution A T intron_variant LIRI-JP 17 45247681 45247681 single base substitution A T upstream_gene_variant LIRI-JP 17 45252294 45252294 single base substitution C A intron_variant LIRI-JP 17 45252294 45252294 single base substitution C A upstream_gene_variant LIRI-JP 17 45253152 45253152 single base substitution A C intron_variant LIRI-JP 17 45253152 45253152 single base substitution A C upstream_gene_variant LIRI-JP 17 45253868 45253868 single base substitution T C downstream_gene_variant LIRI-JP 17 45253868 45253868 single base substitution T C intron_variant LIRI-JP 17 45253868 45253868 single base substitution T C upstream_gene_variant LIRI-JP 17 45255711 45255711 single base substitution G A downstream_gene_variant LIRI-JP 17 45255711 45255711 single base substitution G A intron_variant LIRI-JP 17 45256945 45256945 single base substitution T C downstream_gene_variant LIRI-JP 17 45256945 45256945 single base substitution T C intron_variant LIRI-JP 17 45257451 45257451 single base substitution G T downstream_gene_variant LIRI-JP 17 45257451 45257451 single base substitution G T intron_variant LIRI-JP 17 45257874 45257874 single base substitution C T downstream_gene_variant LIRI-JP 17 45257874 45257874 single base substitution C T intron_variant LIRI-JP 17 45257944 45257944 single base substitution T C downstream_gene_variant LIRI-JP 17 45257944 45257944 single base substitution T C intron_variant LIRI-JP 17 45260152 45260152 single base substitution G T intron_variant LIRI-JP 17 45260152 45260152 single base substitution G T upstream_gene_variant LIRI-JP 17 45262292 45262292 single base substitution C T intron_variant LIRI-JP 17 45262292 45262292 single base substitution C T upstream_gene_variant LIRI-JP 17 45263061 45263061 single base substitution C G intron_variant LIRI-JP 17 45263061 45263061 single base substitution C G upstream_gene_variant LIRI-JP 17 45266881 45266881 single base substitution G T upstream_gene_variant LIRI-JP 17 45268263 45268263 single base substitution G A upstream_gene_variant LUSC-CN 17 45195850 45195850 single base substitution G A 3_prime_UTR_variant LUSC-CN 17 45195850 45195850 single base substitution G A downstream_gene_variant LUSC-KR 17 45194994 45194994 single base substitution T A downstream_gene_variant LUSC-KR 17 45196134 45196134 single base substitution G A 3_prime_UTR_variant LUSC-KR 17 45196134 45196134 single base substitution G A downstream_gene_variant LUSC-KR 17 45200503 45200503 single base substitution A G intron_variant LUSC-KR 17 45201392 45201392 single base substitution C A intron_variant LUSC-KR 17 45201392 45201392 single base substitution C A upstream_gene_variant LUSC-KR 17 45214412 45214412 single base substitution G A downstream_gene_variant LUSC-KR 17 45214412 45214412 single base substitution G A intron_variant LUSC-KR 17 45214464 45214464 single base substitution G A downstream_gene_variant LUSC-KR 17 45214464 45214464 single base substitution G A intron_variant LUSC-KR 17 45214466 45214466 single base substitution A G downstream_gene_variant LUSC-KR 17 45214466 45214466 single base substitution A G intron_variant LUSC-KR 17 45214468 45214468 single base substitution G C downstream_gene_variant LUSC-KR 17 45214468 45214468 single base substitution G C intron_variant LUSC-KR 17 45214484 45214484 single base substitution T C downstream_gene_variant LUSC-KR 17 45214484 45214484 single base substitution T C intron_variant LUSC-KR 17 45214486 45214486 single base substitution C A downstream_gene_variant LUSC-KR 17 45214486 45214486 single base substitution C A intron_variant LUSC-KR 17 45214499 45214499 single base substitution G A downstream_gene_variant LUSC-KR 17 45214499 45214499 single base substitution G A intron_variant LUSC-KR 17 45214527 45214527 single base substitution T C 3_prime_UTR_variant LUSC-KR 17 45214527 45214527 single base substitution T C downstream_gene_variant LUSC-KR 17 45214527 45214527 single base substitution T C intron_variant LUSC-KR 17 45214527 45214527 single base substitution T C missense_variant Y28C 83A>G LUSC-KR 17 45214527 45214527 single base substitution T C missense_variant Y574C 1721A>G LUSC-KR 17 45214527 45214527 single base substitution T C missense_variant Y634C 1901A>G LUSC-KR 17 45214527 45214527 single base substitution T C missense_variant Y635C 1904A>G LUSC-KR 17 45214527 45214527 single base substitution T C missense_variant Y641C 1922A>G LUSC-KR 17 45214582 45214582 single base substitution A G 3_prime_UTR_variant LUSC-KR 17 45214582 45214582 single base substitution A G downstream_gene_variant LUSC-KR 17 45214582 45214582 single base substitution A G intron_variant LUSC-KR 17 45214582 45214582 single base substitution A G synonymous_variant L10L 28T>C LUSC-KR 17 45214582 45214582 single base substitution A G synonymous_variant L556L 1666T>C LUSC-KR 17 45214582 45214582 single base substitution A G synonymous_variant L616L 1846T>C LUSC-KR 17 45214582 45214582 single base substitution A G synonymous_variant L617L 1849T>C LUSC-KR 17 45214582 45214582 single base substitution A G synonymous_variant L623L 1867T>C LUSC-KR 17 45214604 45214604 single base substitution A T 3_prime_UTR_variant LUSC-KR 17 45214604 45214604 single base substitution A T downstream_gene_variant LUSC-KR 17 45214604 45214604 single base substitution A T intron_variant LUSC-KR 17 45214604 45214604 single base substitution A T missense_variant H2Q 6T>A LUSC-KR 17 45214604 45214604 single base substitution A T missense_variant H548Q 1644T>A LUSC-KR 17 45214604 45214604 single base substitution A T missense_variant H608Q 1824T>A LUSC-KR 17 45214604 45214604 single base substitution A T missense_variant H609Q 1827T>A LUSC-KR 17 45214604 45214604 single base substitution A T missense_variant H615Q 1845T>A LUSC-KR 17 45214605 45214605 single base substitution T C 3_prime_UTR_variant LUSC-KR 17 45214605 45214605 single base substitution T C downstream_gene_variant LUSC-KR 17 45214605 45214605 single base substitution T C intron_variant LUSC-KR 17 45214605 45214605 single base substitution T C missense_variant H2R 5A>G LUSC-KR 17 45214605 45214605 single base substitution T C missense_variant H548R 1643A>G LUSC-KR 17 45214605 45214605 single base substitution T C missense_variant H608R 1823A>G LUSC-KR 17 45214605 45214605 single base substitution T C missense_variant H609R 1826A>G LUSC-KR 17 45214605 45214605 single base substitution T C missense_variant H615R 1844A>G LUSC-KR 17 45214643 45214643 single base substitution A C 3_prime_UTR_variant LUSC-KR 17 45214643 45214643 single base substitution A C downstream_gene_variant LUSC-KR 17 45214643 45214643 single base substitution A C intron_variant LUSC-KR 17 45214643 45214643 single base substitution A C synonymous_variant V535V 1605T>G LUSC-KR 17 45214643 45214643 single base substitution A C synonymous_variant V595V 1785T>G LUSC-KR 17 45214643 45214643 single base substitution A C synonymous_variant V596V 1788T>G LUSC-KR 17 45214643 45214643 single base substitution A C synonymous_variant V602V 1806T>G LUSC-KR 17 45214643 45214643 single base substitution A C upstream_gene_variant LUSC-KR 17 45214643 45214643 single base substitution A T 3_prime_UTR_variant LUSC-KR 17 45214643 45214643 single base substitution A T downstream_gene_variant LUSC-KR 17 45214643 45214643 single base substitution A T intron_variant LUSC-KR 17 45214643 45214643 single base substitution A T synonymous_variant V535V 1605T>A LUSC-KR 17 45214643 45214643 single base substitution A T synonymous_variant V595V 1785T>A LUSC-KR 17 45214643 45214643 single base substitution A T synonymous_variant V596V 1788T>A LUSC-KR 17 45214643 45214643 single base substitution A T synonymous_variant V602V 1806T>A LUSC-KR 17 45214643 45214643 single base substitution A T upstream_gene_variant LUSC-KR 17 45215348 45215348 single base substitution G A downstream_gene_variant LUSC-KR 17 45215348 45215348 single base substitution G A intron_variant LUSC-KR 17 45215348 45215348 single base substitution G A upstream_gene_variant LUSC-KR 17 45220271 45220271 single base substitution A G downstream_gene_variant LUSC-KR 17 45220271 45220271 single base substitution A G intron_variant LUSC-KR 17 45220271 45220271 single base substitution A G upstream_gene_variant LUSC-KR 17 45223628 45223628 single base substitution G A intron_variant LUSC-KR 17 45223628 45223628 single base substitution G A upstream_gene_variant LUSC-KR 17 45223790 45223790 single base substitution A T intron_variant LUSC-KR 17 45223790 45223790 single base substitution A T upstream_gene_variant LUSC-KR 17 45228180 45228180 single base substitution C A downstream_gene_variant LUSC-KR 17 45228180 45228180 single base substitution C A intron_variant LUSC-KR 17 45229313 45229313 single base substitution T C downstream_gene_variant LUSC-KR 17 45229313 45229313 single base substitution T C intron_variant LUSC-KR 17 45233758 45233758 single base substitution T C downstream_gene_variant LUSC-KR 17 45233758 45233758 single base substitution T C intron_variant LUSC-KR 17 45235041 45235041 single base substitution A C intron_variant LUSC-KR 17 45235041 45235041 single base substitution A C upstream_gene_variant LUSC-KR 17 45239593 45239593 single base substitution C T intron_variant LUSC-KR 17 45239593 45239593 single base substitution C T upstream_gene_variant LUSC-KR 17 45241429 45241429 single base substitution C A intron_variant LUSC-KR 17 45242824 45242824 single base substitution C T intron_variant LUSC-KR 17 45248572 45248572 single base substitution C A intron_variant LUSC-KR 17 45248572 45248572 single base substitution C A upstream_gene_variant LUSC-KR 17 45248692 45248692 single base substitution T A intron_variant LUSC-KR 17 45248692 45248692 single base substitution T A upstream_gene_variant LUSC-KR 17 45253765 45253765 single base substitution T A downstream_gene_variant LUSC-KR 17 45253765 45253765 single base substitution T A intron_variant LUSC-KR 17 45253765 45253765 single base substitution T A upstream_gene_variant LUSC-KR 17 45256427 45256427 single base substitution C A downstream_gene_variant LUSC-KR 17 45256427 45256427 single base substitution C A intron_variant LUSC-KR 17 45269056 45269056 single base substitution C T upstream_gene_variant LUSC-KR 17 45270179 45270179 single base substitution C T upstream_gene_variant LUSC-KR 17 45270859 45270859 single base substitution C G upstream_gene_variant LUSC-US 17 45219266 45219266 single base substitution G A 3_prime_UTR_variant LUSC-US 17 45219266 45219266 single base substitution G A downstream_gene_variant LUSC-US 17 45219266 45219266 single base substitution G A exon_variant LUSC-US 17 45219266 45219266 single base substitution G A intron_variant LUSC-US 17 45219266 45219266 single base substitution G A synonymous_variant L441L 1321C>T LUSC-US 17 45219266 45219266 single base substitution G A synonymous_variant L501L 1501C>T LUSC-US 17 45219266 45219266 single base substitution G A synonymous_variant L502L 1504C>T LUSC-US 17 45219266 45219266 single base substitution G A synonymous_variant L508L 1522C>T LUSC-US 17 45219266 45219266 single base substitution G A upstream_gene_variant LUSC-US 17 45219285 45219285 single base substitution G C 3_prime_UTR_variant LUSC-US 17 45219285 45219285 single base substitution G C downstream_gene_variant LUSC-US 17 45219285 45219285 single base substitution G C exon_variant LUSC-US 17 45219285 45219285 single base substitution G C intron_variant LUSC-US 17 45219285 45219285 single base substitution G C missense_variant H434Q 1302C>G LUSC-US 17 45219285 45219285 single base substitution G C missense_variant H494Q 1482C>G LUSC-US 17 45219285 45219285 single base substitution G C missense_variant H495Q 1485C>G LUSC-US 17 45219285 45219285 single base substitution G C missense_variant H501Q 1503C>G LUSC-US 17 45219285 45219285 single base substitution G C upstream_gene_variant LUSC-US 17 45232092 45232092 single base substitution G A 3_prime_UTR_variant LUSC-US 17 45232092 45232092 single base substitution G A downstream_gene_variant LUSC-US 17 45232092 45232092 single base substitution G A exon_variant LUSC-US 17 45232092 45232092 single base substitution G A synonymous_variant Y240Y 720C>T LUSC-US 17 45232092 45232092 single base substitution G A synonymous_variant Y301Y 903C>T LUSC-US 17 45235617 45235617 single base substitution A C exon_variant LUSC-US 17 45235617 45235617 single base substitution A C intron_variant LUSC-US 17 45235617 45235617 single base substitution A C missense_variant L144V 430T>G LUSC-US 17 45235617 45235617 single base substitution A C missense_variant L83V 247T>G LUSC-US 17 45235617 45235617 single base substitution A C upstream_gene_variant LUSC-US 17 45258960 45258960 single base substitution G T exon_variant LUSC-US 17 45258960 45258960 single base substitution G T missense_variant A24E 71C>A LUSC-US 17 45258960 45258960 single base substitution G T stop_gained C12* 36C>A MALY-DE 17 45191375 45191375 single base substitution A G downstream_gene_variant MALY-DE 17 45221954 45221954 single base substitution A C intron_variant MALY-DE 17 45221954 45221954 single base substitution A C upstream_gene_variant MALY-DE 17 45237467 45237467 single base substitution A G intron_variant MALY-DE 17 45237467 45237467 single base substitution A G upstream_gene_variant MALY-DE 17 45241367 45241367 single base substitution T C intron_variant MALY-DE 17 45244771 45244771 insertion of <=200bp - A intron_variant MALY-DE 17 45252879 45252880 deletion of <=200bp AT - intron_variant MALY-DE 17 45252879 45252880 deletion of <=200bp AT - upstream_gene_variant MALY-DE 17 45266185 45266185 single base substitution G T exon_variant MALY-DE 17 45266185 45266185 single base substitution G T intron_variant MALY-DE 17 45266418 45266418 single base substitution G A intron_variant MALY-DE 17 45266418 45266418 single base substitution G A upstream_gene_variant MELA-AU 17 45190080 45190080 single base substitution G A downstream_gene_variant MELA-AU 17 45190732 45190732 single base substitution G A downstream_gene_variant MELA-AU 17 45190923 45190923 single base substitution C T downstream_gene_variant MELA-AU 17 45191143 45191143 single base substitution C T downstream_gene_variant MELA-AU 17 45191399 45191399 insertion of <=200bp - A downstream_gene_variant MELA-AU 17 45191540 45191540 single base substitution G A downstream_gene_variant MELA-AU 17 45191654 45191654 single base substitution G A downstream_gene_variant MELA-AU 17 45191698 45191698 single base substitution C T downstream_gene_variant MELA-AU 17 45192361 45192361 single base substitution T C downstream_gene_variant MELA-AU 17 45192682 45192682 single base substitution C T downstream_gene_variant MELA-AU 17 45192742 45192742 single base substitution G A downstream_gene_variant MELA-AU 17 45192947 45192947 single base substitution G A downstream_gene_variant MELA-AU 17 45193091 45193091 single base substitution A G downstream_gene_variant MELA-AU 17 45193657 45193657 single base substitution G A downstream_gene_variant MELA-AU 17 45193803 45193803 single base substitution G A downstream_gene_variant MELA-AU 17 45197877 45197877 single base substitution G A 3_prime_UTR_variant MELA-AU 17 45197877 45197877 single base substitution G A downstream_gene_variant MELA-AU 17 45197984 45197984 single base substitution C A 3_prime_UTR_variant MELA-AU 17 45197984 45197984 single base substitution C A downstream_gene_variant MELA-AU 17 45198366 45198366 single base substitution G A 3_prime_UTR_variant MELA-AU 17 45198366 45198366 single base substitution G A downstream_gene_variant MELA-AU 17 45198366 45198366 single base substitution G A stop_gained Q743* 2227C>T MELA-AU 17 45198366 45198366 single base substitution G A stop_gained Q803* 2407C>T MELA-AU 17 45198366 45198366 single base substitution G A stop_gained Q804* 2410C>T MELA-AU 17 45198366 45198366 single base substitution G A stop_gained Q810* 2428C>T MELA-AU 17 45198902 45198902 single base substitution C T downstream_gene_variant MELA-AU 17 45198902 45198902 single base substitution C T intron_variant MELA-AU 17 45199347 45199347 single base substitution A G downstream_gene_variant MELA-AU 17 45199347 45199347 single base substitution A G intron_variant MELA-AU 17 45200533 45200533 single base substitution G A intron_variant MELA-AU 17 45200578 45200578 single base substitution A G intron_variant MELA-AU 17 45201117 45201117 single base substitution T A intron_variant MELA-AU 17 45202127 45202127 single base substitution G A intron_variant MELA-AU 17 45202127 45202127 single base substitution G A upstream_gene_variant MELA-AU 17 45202148 45202148 single base substitution G A intron_variant MELA-AU 17 45202148 45202148 single base substitution G A upstream_gene_variant MELA-AU 17 45202168 45202168 single base substitution G A intron_variant MELA-AU 17 45202168 45202168 single base substitution G A upstream_gene_variant MELA-AU 17 45202805 45202805 single base substitution G A intron_variant MELA-AU 17 45202805 45202805 single base substitution G A upstream_gene_variant MELA-AU 17 45203138 45203138 single base substitution G A intron_variant MELA-AU 17 45203138 45203138 single base substitution G A upstream_gene_variant MELA-AU 17 45203921 45203921 single base substitution G A intron_variant MELA-AU 17 45203921 45203921 single base substitution G A upstream_gene_variant MELA-AU 17 45204112 45204112 single base substitution G A intron_variant MELA-AU 17 45204112 45204112 single base substitution G A upstream_gene_variant MELA-AU 17 45204153 45204153 single base substitution A G intron_variant MELA-AU 17 45204153 45204153 single base substitution A G upstream_gene_variant MELA-AU 17 45204448 45204448 single base substitution C G intron_variant MELA-AU 17 45204448 45204448 single base substitution C G upstream_gene_variant MELA-AU 17 45205117 45205117 single base substitution G A intron_variant MELA-AU 17 45205117 45205117 single base substitution G A upstream_gene_variant MELA-AU 17 45205342 45205342 single base substitution G A intron_variant MELA-AU 17 45205342 45205342 single base substitution G A upstream_gene_variant MELA-AU 17 45205657 45205657 single base substitution G A intron_variant MELA-AU 17 45205657 45205657 single base substitution G A upstream_gene_variant MELA-AU 17 45205714 45205714 single base substitution G A intron_variant MELA-AU 17 45205714 45205714 single base substitution G A upstream_gene_variant MELA-AU 17 45206647 45206647 single base substitution G A intron_variant MELA-AU 17 45206886 45206886 single base substitution A G missense_variant V617A 1850T>C MELA-AU 17 45206886 45206886 single base substitution A G missense_variant V677A 2030T>C MELA-AU 17 45206886 45206886 single base substitution A G missense_variant V678A 2033T>C MELA-AU 17 45206886 45206886 single base substitution A G missense_variant V684A 2051T>C MELA-AU 17 45206886 45206886 single base substitution A G missense_variant V71A 212T>C MELA-AU 17 45206886 45206886 single base substitution A G splice_region_variant MELA-AU 17 45207457 45207457 single base substitution G A intron_variant MELA-AU 17 45207675 45207675 single base substitution A G intron_variant MELA-AU 17 45207719 45207719 single base substitution C T intron_variant MELA-AU 17 45207985 45207985 single base substitution A T intron_variant MELA-AU 17 45208303 45208304 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 17 45208617 45208617 single base substitution A G intron_variant MELA-AU 17 45209049 45209049 single base substitution T G intron_variant MELA-AU 17 45209584 45209584 single base substitution G A downstream_gene_variant MELA-AU 17 45209584 45209584 single base substitution G A intron_variant MELA-AU 17 45210997 45210997 single base substitution G A downstream_gene_variant MELA-AU 17 45210997 45210997 single base substitution G A intron_variant MELA-AU 17 45211025 45211025 single base substitution G A downstream_gene_variant MELA-AU 17 45211025 45211025 single base substitution G A intron_variant MELA-AU 17 45211133 45211133 single base substitution G T downstream_gene_variant MELA-AU 17 45211133 45211133 single base substitution G T intron_variant MELA-AU 17 45211210 45211210 single base substitution G A downstream_gene_variant MELA-AU 17 45211210 45211210 single base substitution G A intron_variant MELA-AU 17 45211922 45211922 single base substitution A G downstream_gene_variant MELA-AU 17 45211922 45211922 single base substitution A G intron_variant MELA-AU 17 45214060 45214060 single base substitution T C downstream_gene_variant MELA-AU 17 45214060 45214060 single base substitution T C intron_variant MELA-AU 17 45214062 45214062 single base substitution A C downstream_gene_variant MELA-AU 17 45214062 45214062 single base substitution A C intron_variant MELA-AU 17 45214372 45214372 single base substitution T A downstream_gene_variant MELA-AU 17 45214372 45214372 single base substitution T A intron_variant MELA-AU 17 45214394 45214394 single base substitution A G downstream_gene_variant MELA-AU 17 45214394 45214394 single base substitution A G intron_variant MELA-AU 17 45214424 45214424 single base substitution A G downstream_gene_variant MELA-AU 17 45214424 45214424 single base substitution A G intron_variant MELA-AU 17 45215155 45215155 single base substitution G A downstream_gene_variant MELA-AU 17 45215155 45215155 single base substitution G A intron_variant MELA-AU 17 45215155 45215155 single base substitution G A upstream_gene_variant MELA-AU 17 45215492 45215492 single base substitution A T downstream_gene_variant MELA-AU 17 45215492 45215492 single base substitution A T intron_variant MELA-AU 17 45215492 45215492 single base substitution A T upstream_gene_variant MELA-AU 17 45216682 45216682 single base substitution G A downstream_gene_variant MELA-AU 17 45216682 45216682 single base substitution G A intron_variant MELA-AU 17 45216682 45216682 single base substitution G A upstream_gene_variant MELA-AU 17 45216949 45216949 single base substitution G A downstream_gene_variant MELA-AU 17 45216949 45216949 single base substitution G A intron_variant MELA-AU 17 45216949 45216949 single base substitution G A upstream_gene_variant MELA-AU 17 45217444 45217444 single base substitution G T downstream_gene_variant MELA-AU 17 45217444 45217444 single base substitution G T intron_variant MELA-AU 17 45217444 45217444 single base substitution G T upstream_gene_variant MELA-AU 17 45217762 45217762 single base substitution G A downstream_gene_variant MELA-AU 17 45217762 45217762 single base substitution G A intron_variant MELA-AU 17 45217762 45217762 single base substitution G A upstream_gene_variant MELA-AU 17 45218076 45218076 single base substitution C A downstream_gene_variant MELA-AU 17 45218076 45218076 single base substitution C A intron_variant MELA-AU 17 45218076 45218076 single base substitution C A upstream_gene_variant MELA-AU 17 45218112 45218112 single base substitution G A downstream_gene_variant MELA-AU 17 45218112 45218112 single base substitution G A intron_variant MELA-AU 17 45218112 45218112 single base substitution G A upstream_gene_variant MELA-AU 17 45218131 45218131 single base substitution G A downstream_gene_variant MELA-AU 17 45218131 45218131 single base substitution G A intron_variant MELA-AU 17 45218131 45218131 single base substitution G A upstream_gene_variant MELA-AU 17 45218489 45218489 single base substitution G A downstream_gene_variant MELA-AU 17 45218489 45218489 single base substitution G A intron_variant MELA-AU 17 45218489 45218489 single base substitution G A upstream_gene_variant MELA-AU 17 45218552 45218552 single base substitution G A downstream_gene_variant MELA-AU 17 45218552 45218552 single base substitution G A intron_variant MELA-AU 17 45218552 45218552 single base substitution G A upstream_gene_variant MELA-AU 17 45218848 45218848 single base substitution A C downstream_gene_variant MELA-AU 17 45218848 45218848 single base substitution A C intron_variant MELA-AU 17 45218848 45218848 single base substitution A C upstream_gene_variant MELA-AU 17 45219086 45219086 single base substitution G A downstream_gene_variant MELA-AU 17 45219086 45219086 single base substitution G A intron_variant MELA-AU 17 45219086 45219086 single base substitution G A upstream_gene_variant MELA-AU 17 45219311 45219311 single base substitution T C 3_prime_UTR_variant MELA-AU 17 45219311 45219311 single base substitution T C downstream_gene_variant MELA-AU 17 45219311 45219311 single base substitution T C exon_variant MELA-AU 17 45219311 45219311 single base substitution T C intron_variant MELA-AU 17 45219311 45219311 single base substitution T C missense_variant I426V 1276A>G MELA-AU 17 45219311 45219311 single base substitution T C missense_variant I486V 1456A>G MELA-AU 17 45219311 45219311 single base substitution T C missense_variant I487V 1459A>G MELA-AU 17 45219311 45219311 single base substitution T C missense_variant I493V 1477A>G MELA-AU 17 45219311 45219311 single base substitution T C upstream_gene_variant MELA-AU 17 45220556 45220556 single base substitution C T downstream_gene_variant MELA-AU 17 45220556 45220556 single base substitution C T intron_variant MELA-AU 17 45220556 45220556 single base substitution C T upstream_gene_variant MELA-AU 17 45220629 45220630 multiple base substitution (>=2bp and <=200bp) GG AT downstream_gene_variant MELA-AU 17 45220629 45220630 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 17 45220629 45220630 multiple base substitution (>=2bp and <=200bp) GG AT upstream_gene_variant MELA-AU 17 45220652 45220652 single base substitution T C downstream_gene_variant MELA-AU 17 45220652 45220652 single base substitution T C intron_variant MELA-AU 17 45220652 45220652 single base substitution T C upstream_gene_variant MELA-AU 17 45220774 45220774 single base substitution G A downstream_gene_variant MELA-AU 17 45220774 45220774 single base substitution G A intron_variant MELA-AU 17 45220774 45220774 single base substitution G A upstream_gene_variant MELA-AU 17 45220877 45220877 single base substitution G A downstream_gene_variant MELA-AU 17 45220877 45220877 single base substitution G A intron_variant MELA-AU 17 45220877 45220877 single base substitution G A upstream_gene_variant MELA-AU 17 45221085 45221085 single base substitution G A downstream_gene_variant MELA-AU 17 45221085 45221085 single base substitution G A intron_variant MELA-AU 17 45221085 45221085 single base substitution G A upstream_gene_variant MELA-AU 17 45221367 45221367 single base substitution G A intron_variant MELA-AU 17 45221367 45221367 single base substitution G A upstream_gene_variant MELA-AU 17 45221528 45221528 single base substitution G A intron_variant MELA-AU 17 45221528 45221528 single base substitution G A upstream_gene_variant MELA-AU 17 45221577 45221577 single base substitution G A intron_variant MELA-AU 17 45221577 45221577 single base substitution G A upstream_gene_variant MELA-AU 17 45222521 45222521 single base substitution G A intron_variant MELA-AU 17 45222521 45222521 single base substitution G A upstream_gene_variant MELA-AU 17 45222592 45222592 single base substitution A T intron_variant MELA-AU 17 45222592 45222592 single base substitution A T upstream_gene_variant MELA-AU 17 45223258 45223258 single base substitution T A intron_variant MELA-AU 17 45223258 45223258 single base substitution T A upstream_gene_variant MELA-AU 17 45223342 45223342 single base substitution G A intron_variant MELA-AU 17 45223342 45223342 single base substitution G A upstream_gene_variant MELA-AU 17 45223603 45223603 single base substitution G A intron_variant MELA-AU 17 45223603 45223603 single base substitution G A upstream_gene_variant MELA-AU 17 45223814 45223814 single base substitution G A intron_variant MELA-AU 17 45223814 45223814 single base substitution G A upstream_gene_variant MELA-AU 17 45224348 45224348 single base substitution G A downstream_gene_variant MELA-AU 17 45224348 45224348 single base substitution G A intron_variant MELA-AU 17 45224348 45224348 single base substitution G A upstream_gene_variant MELA-AU 17 45225028 45225028 single base substitution G A downstream_gene_variant MELA-AU 17 45225028 45225028 single base substitution G A intron_variant MELA-AU 17 45225194 45225194 single base substitution G A downstream_gene_variant MELA-AU 17 45225194 45225194 single base substitution G A intron_variant MELA-AU 17 45225779 45225779 single base substitution G A downstream_gene_variant MELA-AU 17 45225779 45225779 single base substitution G A intron_variant MELA-AU 17 45225844 45225845 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 45225844 45225845 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 45226142 45226142 single base substitution A G downstream_gene_variant MELA-AU 17 45226142 45226142 single base substitution A G intron_variant MELA-AU 17 45226677 45226677 single base substitution G A downstream_gene_variant MELA-AU 17 45226677 45226677 single base substitution G A intron_variant MELA-AU 17 45226965 45226965 single base substitution G A downstream_gene_variant MELA-AU 17 45226965 45226965 single base substitution G A intron_variant MELA-AU 17 45228866 45228866 single base substitution G C downstream_gene_variant MELA-AU 17 45228866 45228866 single base substitution G C intron_variant MELA-AU 17 45228903 45228903 single base substitution G C downstream_gene_variant MELA-AU 17 45228903 45228903 single base substitution G C intron_variant MELA-AU 17 45228935 45228935 single base substitution C T downstream_gene_variant MELA-AU 17 45228935 45228935 single base substitution C T intron_variant MELA-AU 17 45229270 45229270 single base substitution G A 3_prime_UTR_variant MELA-AU 17 45229270 45229270 single base substitution G A downstream_gene_variant MELA-AU 17 45229270 45229270 single base substitution G A exon_variant MELA-AU 17 45229270 45229270 single base substitution G A intron_variant MELA-AU 17 45229270 45229270 single base substitution G A synonymous_variant I263I 789C>T MELA-AU 17 45229270 45229270 single base substitution G A synonymous_variant I324I 972C>T MELA-AU 17 45229270 45229270 single base substitution G A synonymous_variant I330I 990C>T MELA-AU 17 45229871 45229871 single base substitution A G downstream_gene_variant MELA-AU 17 45229871 45229871 single base substitution A G intron_variant MELA-AU 17 45230035 45230035 single base substitution G A downstream_gene_variant MELA-AU 17 45230035 45230035 single base substitution G A intron_variant MELA-AU 17 45230859 45230859 single base substitution G A downstream_gene_variant MELA-AU 17 45230859 45230859 single base substitution G A intron_variant MELA-AU 17 45231043 45231043 single base substitution T C downstream_gene_variant MELA-AU 17 45231043 45231043 single base substitution T C intron_variant MELA-AU 17 45231091 45231091 single base substitution G A downstream_gene_variant MELA-AU 17 45231091 45231091 single base substitution G A intron_variant MELA-AU 17 45231240 45231240 single base substitution G A downstream_gene_variant MELA-AU 17 45231240 45231240 single base substitution G A intron_variant MELA-AU 17 45231366 45231366 single base substitution G A downstream_gene_variant MELA-AU 17 45231366 45231366 single base substitution G A intron_variant MELA-AU 17 45231742 45231742 single base substitution G A downstream_gene_variant MELA-AU 17 45231742 45231742 single base substitution G A intron_variant MELA-AU 17 45231936 45231936 single base substitution G A downstream_gene_variant MELA-AU 17 45231936 45231936 single base substitution G A intron_variant MELA-AU 17 45231943 45231943 single base substitution C A downstream_gene_variant MELA-AU 17 45231943 45231943 single base substitution C A intron_variant MELA-AU 17 45232410 45232410 single base substitution A C downstream_gene_variant MELA-AU 17 45232410 45232410 single base substitution A C intron_variant MELA-AU 17 45232636 45232636 single base substitution G A downstream_gene_variant MELA-AU 17 45232636 45232636 single base substitution G A intron_variant MELA-AU 17 45233480 45233480 single base substitution A G downstream_gene_variant MELA-AU 17 45233480 45233480 single base substitution A G intron_variant MELA-AU 17 45233774 45233774 single base substitution G C downstream_gene_variant MELA-AU 17 45233774 45233774 single base substitution G C intron_variant MELA-AU 17 45234365 45234365 single base substitution G A 3_prime_UTR_variant MELA-AU 17 45234365 45234365 single base substitution G A downstream_gene_variant MELA-AU 17 45234365 45234365 single base substitution G A exon_variant MELA-AU 17 45234365 45234365 single base substitution G A intron_variant MELA-AU 17 45234365 45234365 single base substitution G A synonymous_variant S191S 573C>T MELA-AU 17 45234365 45234365 single base substitution G A synonymous_variant S252S 756C>T MELA-AU 17 45234365 45234365 single base substitution G A upstream_gene_variant MELA-AU 17 45234395 45234395 single base substitution A T 3_prime_UTR_variant MELA-AU 17 45234395 45234395 single base substitution A T downstream_gene_variant MELA-AU 17 45234395 45234395 single base substitution A T exon_variant MELA-AU 17 45234395 45234395 single base substitution A T intron_variant MELA-AU 17 45234395 45234395 single base substitution A T synonymous_variant P181P 543T>A MELA-AU 17 45234395 45234395 single base substitution A T synonymous_variant P242P 726T>A MELA-AU 17 45234395 45234395 single base substitution A T upstream_gene_variant MELA-AU 17 45236091 45236091 single base substitution C T intron_variant MELA-AU 17 45236091 45236091 single base substitution C T upstream_gene_variant MELA-AU 17 45236646 45236646 single base substitution G A intron_variant MELA-AU 17 45236646 45236646 single base substitution G A upstream_gene_variant MELA-AU 17 45237393 45237393 single base substitution G A intron_variant MELA-AU 17 45237393 45237393 single base substitution G A upstream_gene_variant MELA-AU 17 45237415 45237416 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 45237415 45237416 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 45237444 45237444 single base substitution G A intron_variant MELA-AU 17 45237444 45237444 single base substitution G A upstream_gene_variant MELA-AU 17 45238447 45238447 single base substitution G A intron_variant MELA-AU 17 45238447 45238447 single base substitution G A upstream_gene_variant MELA-AU 17 45238651 45238651 single base substitution G A intron_variant MELA-AU 17 45238651 45238651 single base substitution G A upstream_gene_variant MELA-AU 17 45238772 45238772 single base substitution G A intron_variant MELA-AU 17 45238772 45238772 single base substitution G A upstream_gene_variant MELA-AU 17 45238903 45238903 single base substitution G A intron_variant MELA-AU 17 45238903 45238903 single base substitution G A upstream_gene_variant MELA-AU 17 45239035 45239035 single base substitution G A intron_variant MELA-AU 17 45239035 45239035 single base substitution G A upstream_gene_variant MELA-AU 17 45239372 45239372 single base substitution G A intron_variant MELA-AU 17 45239372 45239372 single base substitution G A upstream_gene_variant MELA-AU 17 45240327 45240327 single base substitution G T intron_variant MELA-AU 17 45240516 45240516 single base substitution G A intron_variant MELA-AU 17 45240524 45240524 single base substitution A T intron_variant MELA-AU 17 45241566 45241566 single base substitution G A intron_variant MELA-AU 17 45242230 45242230 single base substitution T C intron_variant MELA-AU 17 45242533 45242533 single base substitution C T intron_variant MELA-AU 17 45243269 45243270 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 17 45243872 45243872 single base substitution G A intron_variant MELA-AU 17 45244270 45244270 single base substitution G A intron_variant MELA-AU 17 45244280 45244280 single base substitution G A intron_variant MELA-AU 17 45244775 45244775 single base substitution A G intron_variant MELA-AU 17 45244976 45244976 single base substitution G A intron_variant MELA-AU 17 45245183 45245183 single base substitution G A intron_variant MELA-AU 17 45245253 45245253 single base substitution G A intron_variant MELA-AU 17 45245345 45245345 single base substitution G A intron_variant MELA-AU 17 45245410 45245410 single base substitution T A intron_variant MELA-AU 17 45246577 45246577 single base substitution C G intron_variant MELA-AU 17 45246733 45246733 single base substitution C A intron_variant MELA-AU 17 45247397 45247397 single base substitution C T exon_variant MELA-AU 17 45247397 45247397 single base substitution C T intron_variant MELA-AU 17 45247397 45247397 single base substitution C T missense_variant G27E 80G>A MELA-AU 17 45247397 45247397 single base substitution C T missense_variant G88E 263G>A MELA-AU 17 45247397 45247397 single base substitution C T upstream_gene_variant MELA-AU 17 45249076 45249076 single base substitution G A intron_variant MELA-AU 17 45249076 45249076 single base substitution G A upstream_gene_variant MELA-AU 17 45249217 45249217 single base substitution G A intron_variant MELA-AU 17 45249217 45249217 single base substitution G A upstream_gene_variant MELA-AU 17 45250527 45250527 single base substitution C T intron_variant MELA-AU 17 45250527 45250527 single base substitution C T upstream_gene_variant MELA-AU 17 45250857 45250857 single base substitution G A intron_variant MELA-AU 17 45250857 45250857 single base substitution G A upstream_gene_variant MELA-AU 17 45250897 45250897 single base substitution G A intron_variant MELA-AU 17 45250897 45250897 single base substitution G A upstream_gene_variant MELA-AU 17 45251768 45251768 single base substitution G A intron_variant MELA-AU 17 45251768 45251768 single base substitution G A upstream_gene_variant MELA-AU 17 45251863 45251863 single base substitution G A intron_variant MELA-AU 17 45251863 45251863 single base substitution G A upstream_gene_variant MELA-AU 17 45251950 45251950 single base substitution G T intron_variant MELA-AU 17 45251950 45251950 single base substitution G T upstream_gene_variant MELA-AU 17 45252216 45252216 single base substitution G A intron_variant MELA-AU 17 45252216 45252216 single base substitution G A upstream_gene_variant MELA-AU 17 45252343 45252343 single base substitution G A intron_variant MELA-AU 17 45252343 45252343 single base substitution G A upstream_gene_variant MELA-AU 17 45252379 45252379 single base substitution A G intron_variant MELA-AU 17 45252379 45252379 single base substitution A G upstream_gene_variant MELA-AU 17 45254920 45254920 single base substitution G A downstream_gene_variant MELA-AU 17 45254920 45254920 single base substitution G A intron_variant MELA-AU 17 45255434 45255434 single base substitution G A downstream_gene_variant MELA-AU 17 45255434 45255434 single base substitution G A intron_variant MELA-AU 17 45255987 45255987 single base substitution G A downstream_gene_variant MELA-AU 17 45255987 45255987 single base substitution G A intron_variant MELA-AU 17 45256366 45256367 multiple base substitution (>=2bp and <=200bp) CC GT downstream_gene_variant MELA-AU 17 45256366 45256367 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 17 45257030 45257030 single base substitution T A downstream_gene_variant MELA-AU 17 45257030 45257030 single base substitution T A intron_variant MELA-AU 17 45257507 45257507 insertion of <=200bp - A downstream_gene_variant MELA-AU 17 45257507 45257507 insertion of <=200bp - A intron_variant MELA-AU 17 45257604 45257605 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 17 45257604 45257605 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 17 45257759 45257759 single base substitution G A downstream_gene_variant MELA-AU 17 45257759 45257759 single base substitution G A intron_variant MELA-AU 17 45258873 45258873 single base substitution G A exon_variant MELA-AU 17 45258873 45258873 single base substitution G A intron_variant MELA-AU 17 45259230 45259230 single base substitution C T intron_variant MELA-AU 17 45259230 45259230 single base substitution C T upstream_gene_variant MELA-AU 17 45260131 45260131 single base substitution G A intron_variant MELA-AU 17 45260131 45260131 single base substitution G A upstream_gene_variant MELA-AU 17 45262440 45262440 single base substitution G A intron_variant MELA-AU 17 45262440 45262440 single base substitution G A upstream_gene_variant MELA-AU 17 45263074 45263075 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 45263074 45263075 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 45263880 45263880 single base substitution A G intron_variant MELA-AU 17 45263880 45263880 single base substitution A G upstream_gene_variant MELA-AU 17 45264192 45264192 single base substitution A G intron_variant MELA-AU 17 45264660 45264660 single base substitution T C intron_variant MELA-AU 17 45264694 45264694 insertion of <=200bp - TC intron_variant MELA-AU 17 45264726 45264726 single base substitution G A intron_variant MELA-AU 17 45266684 45266684 single base substitution G A exon_variant MELA-AU 17 45266684 45266684 single base substitution G A upstream_gene_variant MELA-AU 17 45266727 45266727 single base substitution G A exon_variant MELA-AU 17 45266727 45266727 single base substitution G A upstream_gene_variant MELA-AU 17 45266736 45266736 single base substitution G A exon_variant MELA-AU 17 45266736 45266736 single base substitution G A upstream_gene_variant MELA-AU 17 45266743 45266743 single base substitution G A exon_variant MELA-AU 17 45266743 45266743 single base substitution G A upstream_gene_variant MELA-AU 17 45266744 45266744 single base substitution G A exon_variant MELA-AU 17 45266744 45266744 single base substitution G A upstream_gene_variant MELA-AU 17 45266745 45266745 single base substitution G A exon_variant MELA-AU 17 45266745 45266745 single base substitution G A upstream_gene_variant MELA-AU 17 45266773 45266773 single base substitution G A exon_variant MELA-AU 17 45266773 45266773 single base substitution G A upstream_gene_variant MELA-AU 17 45266813 45266813 single base substitution G A upstream_gene_variant MELA-AU 17 45267763 45267763 single base substitution G A upstream_gene_variant MELA-AU 17 45267887 45267887 single base substitution G A upstream_gene_variant MELA-AU 17 45267968 45267968 single base substitution T A upstream_gene_variant MELA-AU 17 45268052 45268052 single base substitution G A upstream_gene_variant MELA-AU 17 45268601 45268601 single base substitution G A upstream_gene_variant MELA-AU 17 45268653 45268653 single base substitution C T upstream_gene_variant MELA-AU 17 45268695 45268695 single base substitution G A upstream_gene_variant MELA-AU 17 45269117 45269117 single base substitution G A upstream_gene_variant MELA-AU 17 45269900 45269900 single base substitution C T upstream_gene_variant MELA-AU 17 45270034 45270034 single base substitution C T upstream_gene_variant MELA-AU 17 45270618 45270618 single base substitution C T upstream_gene_variant MELA-AU 17 45270953 45270953 single base substitution C T upstream_gene_variant MELA-AU 17 45271093 45271093 single base substitution C T upstream_gene_variant MELA-AU 17 45271114 45271114 single base substitution C T upstream_gene_variant MELA-AU 17 45271202 45271202 single base substitution A G upstream_gene_variant MELA-AU 17 45271313 45271313 single base substitution G A upstream_gene_variant MELA-AU 17 45271318 45271318 single base substitution C T upstream_gene_variant MELA-AU 17 45271505 45271505 single base substitution C T upstream_gene_variant MELA-AU 17 45271596 45271596 single base substitution C T upstream_gene_variant MELA-AU 17 45271622 45271622 single base substitution C T upstream_gene_variant ORCA-IN 17 45204727 45204727 single base substitution T C intron_variant ORCA-IN 17 45204727 45204727 single base substitution T C upstream_gene_variant ORCA-IN 17 45206490 45206490 single base substitution G C intron_variant ORCA-IN 17 45212156 45212156 insertion of <=200bp - C downstream_gene_variant ORCA-IN 17 45212156 45212156 insertion of <=200bp - C intron_variant ORCA-IN 17 45270686 45270686 single base substitution T G upstream_gene_variant OV-AU 17 45212109 45212109 single base substitution G T downstream_gene_variant OV-AU 17 45212109 45212109 single base substitution G T intron_variant OV-AU 17 45219299 45219299 single base substitution G C 3_prime_UTR_variant OV-AU 17 45219299 45219299 single base substitution G C downstream_gene_variant OV-AU 17 45219299 45219299 single base substitution G C exon_variant OV-AU 17 45219299 45219299 single base substitution G C intron_variant OV-AU 17 45219299 45219299 single base substitution G C missense_variant L430V 1288C>G OV-AU 17 45219299 45219299 single base substitution G C missense_variant L490V 1468C>G OV-AU 17 45219299 45219299 single base substitution G C missense_variant L491V 1471C>G OV-AU 17 45219299 45219299 single base substitution G C missense_variant L497V 1489C>G OV-AU 17 45219299 45219299 single base substitution G C upstream_gene_variant OV-AU 17 45229283 45229283 single base substitution G A 3_prime_UTR_variant OV-AU 17 45229283 45229283 single base substitution G A downstream_gene_variant OV-AU 17 45229283 45229283 single base substitution G A exon_variant OV-AU 17 45229283 45229283 single base substitution G A intron_variant OV-AU 17 45229283 45229283 single base substitution G A missense_variant S259F 776C>T OV-AU 17 45229283 45229283 single base substitution G A missense_variant S320F 959C>T OV-AU 17 45229283 45229283 single base substitution G A missense_variant S326F 977C>T OV-AU 17 45229283 45229283 single base substitution G A splice_region_variant OV-AU 17 45233947 45233947 single base substitution G C downstream_gene_variant OV-AU 17 45233947 45233947 single base substitution G C intron_variant OV-AU 17 45234401 45234401 single base substitution A G 3_prime_UTR_variant OV-AU 17 45234401 45234401 single base substitution A G downstream_gene_variant OV-AU 17 45234401 45234401 single base substitution A G exon_variant OV-AU 17 45234401 45234401 single base substitution A G intron_variant OV-AU 17 45234401 45234401 single base substitution A G synonymous_variant I179I 537T>C OV-AU 17 45234401 45234401 single base substitution A G synonymous_variant I240I 720T>C OV-AU 17 45234401 45234401 single base substitution A G upstream_gene_variant OV-AU 17 45242641 45242641 single base substitution C G intron_variant OV-AU 17 45252806 45252806 single base substitution C T intron_variant OV-AU 17 45252806 45252806 single base substitution C T upstream_gene_variant OV-AU 17 45255322 45255322 single base substitution G T downstream_gene_variant OV-AU 17 45255322 45255322 single base substitution G T intron_variant OV-AU 17 45260445 45260445 single base substitution G T intron_variant OV-AU 17 45260445 45260445 single base substitution G T upstream_gene_variant OV-AU 17 45268542 45268542 single base substitution A G upstream_gene_variant OV-AU 17 45271688 45271688 single base substitution C A upstream_gene_variant OV-US 17 45221247 45221247 single base substitution A G downstream_gene_variant OV-US 17 45221247 45221247 single base substitution A G intron_variant OV-US 17 45221247 45221247 single base substitution A G splice_donor_variant OV-US 17 45221247 45221247 single base substitution A G upstream_gene_variant PACA-AU 17 45191546 45191546 single base substitution C T downstream_gene_variant PACA-AU 17 45191890 45191890 single base substitution T A downstream_gene_variant PACA-AU 17 45194518 45194518 single base substitution A C downstream_gene_variant PACA-AU 17 45200542 45200542 single base substitution A T intron_variant PACA-AU 17 45203069 45203069 single base substitution C T intron_variant PACA-AU 17 45203069 45203069 single base substitution C T upstream_gene_variant PACA-AU 17 45209011 45209038 deletion of <=200bp TCTTTTCTCCTGTTAAAGTAAAATTTAT - intron_variant PACA-AU 17 45211710 45211710 single base substitution G A downstream_gene_variant PACA-AU 17 45211710 45211710 single base substitution G A intron_variant PACA-AU 17 45214519 45214519 single base substitution A G 3_prime_UTR_variant PACA-AU 17 45214519 45214519 single base substitution A G downstream_gene_variant PACA-AU 17 45214519 45214519 single base substitution A G intron_variant PACA-AU 17 45214519 45214519 single base substitution A G missense_variant W31R 91T>C PACA-AU 17 45214519 45214519 single base substitution A G missense_variant W577R 1729T>C PACA-AU 17 45214519 45214519 single base substitution A G missense_variant W637R 1909T>C PACA-AU 17 45214519 45214519 single base substitution A G missense_variant W638R 1912T>C PACA-AU 17 45214519 45214519 single base substitution A G missense_variant W644R 1930T>C PACA-AU 17 45214519 45214519 single base substitution A G splice_region_variant PACA-AU 17 45219310 45219310 single base substitution A G 3_prime_UTR_variant PACA-AU 17 45219310 45219310 single base substitution A G downstream_gene_variant PACA-AU 17 45219310 45219310 single base substitution A G exon_variant PACA-AU 17 45219310 45219310 single base substitution A G intron_variant PACA-AU 17 45219310 45219310 single base substitution A G missense_variant I426T 1277T>C PACA-AU 17 45219310 45219310 single base substitution A G missense_variant I486T 1457T>C PACA-AU 17 45219310 45219310 single base substitution A G missense_variant I487T 1460T>C PACA-AU 17 45219310 45219310 single base substitution A G missense_variant I493T 1478T>C PACA-AU 17 45219310 45219310 single base substitution A G upstream_gene_variant PACA-AU 17 45224537 45224537 single base substitution C T downstream_gene_variant PACA-AU 17 45224537 45224537 single base substitution C T intron_variant PACA-AU 17 45224537 45224537 single base substitution C T upstream_gene_variant PACA-AU 17 45224794 45224794 single base substitution C A downstream_gene_variant PACA-AU 17 45224794 45224794 single base substitution C A intron_variant PACA-AU 17 45224798 45224798 single base substitution A C downstream_gene_variant PACA-AU 17 45224798 45224798 single base substitution A C intron_variant PACA-AU 17 45228692 45228692 single base substitution G A downstream_gene_variant PACA-AU 17 45228692 45228692 single base substitution G A intron_variant PACA-AU 17 45234034 45234034 single base substitution G C downstream_gene_variant PACA-AU 17 45234034 45234034 single base substitution G C exon_variant PACA-AU 17 45234034 45234034 single base substitution G C intron_variant PACA-AU 17 45235904 45235904 single base substitution C T intron_variant PACA-AU 17 45235904 45235904 single base substitution C T upstream_gene_variant PACA-AU 17 45239214 45239214 single base substitution T C intron_variant PACA-AU 17 45239214 45239214 single base substitution T C upstream_gene_variant PACA-AU 17 45240480 45240480 insertion of <=200bp - A intron_variant PACA-AU 17 45242076 45242076 single base substitution C G intron_variant PACA-AU 17 45245828 45245829 deletion of <=200bp TC - intron_variant PACA-AU 17 45249530 45249530 single base substitution T A intron_variant PACA-AU 17 45249530 45249530 single base substitution T A upstream_gene_variant PACA-AU 17 45251125 45251125 single base substitution C T intron_variant PACA-AU 17 45251125 45251125 single base substitution C T upstream_gene_variant PACA-AU 17 45262034 45262034 insertion of <=200bp - A intron_variant PACA-AU 17 45262034 45262034 insertion of <=200bp - A upstream_gene_variant PACA-AU 17 45262555 45262555 single base substitution T C intron_variant PACA-AU 17 45262555 45262555 single base substitution T C upstream_gene_variant PACA-AU 17 45266672 45266672 single base substitution T C exon_variant PACA-AU 17 45266672 45266672 single base substitution T C upstream_gene_variant PACA-AU 17 45267891 45267891 single base substitution A C upstream_gene_variant PACA-AU 17 45268309 45268309 single base substitution G A upstream_gene_variant PACA-AU 17 45270407 45270407 single base substitution C A upstream_gene_variant PACA-AU 17 45270781 45270781 single base substitution G A upstream_gene_variant PACA-CA 17 45193937 45193937 single base substitution G A downstream_gene_variant PACA-CA 17 45195281 45195281 single base substitution G C 3_prime_UTR_variant PACA-CA 17 45195281 45195281 single base substitution G C downstream_gene_variant PACA-CA 17 45195495 45195495 single base substitution G A 3_prime_UTR_variant PACA-CA 17 45195495 45195495 single base substitution G A downstream_gene_variant PACA-CA 17 45195730 45195730 single base substitution G C 3_prime_UTR_variant PACA-CA 17 45195730 45195730 single base substitution G C downstream_gene_variant PACA-CA 17 45195963 45195963 single base substitution G A 3_prime_UTR_variant PACA-CA 17 45195963 45195963 single base substitution G A downstream_gene_variant PACA-CA 17 45195969 45195969 single base substitution G A 3_prime_UTR_variant PACA-CA 17 45195969 45195969 single base substitution G A downstream_gene_variant PACA-CA 17 45196044 45196044 single base substitution G A 3_prime_UTR_variant PACA-CA 17 45196044 45196044 single base substitution G A downstream_gene_variant PACA-CA 17 45196074 45196074 single base substitution G C 3_prime_UTR_variant PACA-CA 17 45196074 45196074 single base substitution G C downstream_gene_variant PACA-CA 17 45196173 45196173 single base substitution G A 3_prime_UTR_variant PACA-CA 17 45196173 45196173 single base substitution G A downstream_gene_variant PACA-CA 17 45196194 45196194 single base substitution G A 3_prime_UTR_variant PACA-CA 17 45196194 45196194 single base substitution G A downstream_gene_variant PACA-CA 17 45196308 45196308 single base substitution G C 3_prime_UTR_variant PACA-CA 17 45196308 45196308 single base substitution G C downstream_gene_variant PACA-CA 17 45196417 45196417 single base substitution G A 3_prime_UTR_variant PACA-CA 17 45196417 45196417 single base substitution G A downstream_gene_variant PACA-CA 17 45196609 45196609 single base substitution T A 3_prime_UTR_variant PACA-CA 17 45196609 45196609 single base substitution T A downstream_gene_variant PACA-CA 17 45196627 45196627 single base substitution G C 3_prime_UTR_variant PACA-CA 17 45196627 45196627 single base substitution G C downstream_gene_variant PACA-CA 17 45196744 45196744 single base substitution G T 3_prime_UTR_variant PACA-CA 17 45196744 45196744 single base substitution G T downstream_gene_variant PACA-CA 17 45196764 45196764 single base substitution G A 3_prime_UTR_variant PACA-CA 17 45196764 45196764 single base substitution G A downstream_gene_variant PACA-CA 17 45196906 45196906 single base substitution G C 3_prime_UTR_variant PACA-CA 17 45196906 45196906 single base substitution G C downstream_gene_variant PACA-CA 17 45196929 45196929 single base substitution G C 3_prime_UTR_variant PACA-CA 17 45196929 45196929 single base substitution G C downstream_gene_variant PACA-CA 17 45196996 45196996 single base substitution G T 3_prime_UTR_variant PACA-CA 17 45196996 45196996 single base substitution G T downstream_gene_variant PACA-CA 17 45197070 45197070 single base substitution G A 3_prime_UTR_variant PACA-CA 17 45197070 45197070 single base substitution G A downstream_gene_variant PACA-CA 17 45197222 45197222 single base substitution G A 3_prime_UTR_variant PACA-CA 17 45197222 45197222 single base substitution G A downstream_gene_variant PACA-CA 17 45197268 45197268 single base substitution G T 3_prime_UTR_variant PACA-CA 17 45197268 45197268 single base substitution G T downstream_gene_variant PACA-CA 17 45197273 45197273 single base substitution G A 3_prime_UTR_variant PACA-CA 17 45197273 45197273 single base substitution G A downstream_gene_variant PACA-CA 17 45197383 45197383 single base substitution G A 3_prime_UTR_variant PACA-CA 17 45197383 45197383 single base substitution G A downstream_gene_variant PACA-CA 17 45197448 45197448 single base substitution G C 3_prime_UTR_variant PACA-CA 17 45197448 45197448 single base substitution G C downstream_gene_variant PACA-CA 17 45197504 45197504 single base substitution G A 3_prime_UTR_variant PACA-CA 17 45197504 45197504 single base substitution G A downstream_gene_variant PACA-CA 17 45197756 45197756 single base substitution G A 3_prime_UTR_variant PACA-CA 17 45197756 45197756 single base substitution G A downstream_gene_variant PACA-CA 17 45197758 45197758 single base substitution G A 3_prime_UTR_variant PACA-CA 17 45197758 45197758 single base substitution G A downstream_gene_variant PACA-CA 17 45200527 45200527 single base substitution C T intron_variant PACA-CA 17 45201689 45201689 single base substitution G A intron_variant PACA-CA 17 45201689 45201689 single base substitution G A upstream_gene_variant PACA-CA 17 45206451 45206451 single base substitution C A intron_variant PACA-CA 17 45208482 45208482 single base substitution A T intron_variant PACA-CA 17 45208483 45208483 single base substitution A T intron_variant PACA-CA 17 45211732 45211732 single base substitution G A downstream_gene_variant PACA-CA 17 45211732 45211732 single base substitution G A intron_variant PACA-CA 17 45211846 45211846 single base substitution T G downstream_gene_variant PACA-CA 17 45211846 45211846 single base substitution T G intron_variant PACA-CA 17 45215587 45215587 single base substitution C T downstream_gene_variant PACA-CA 17 45215587 45215587 single base substitution C T intron_variant PACA-CA 17 45215587 45215587 single base substitution C T upstream_gene_variant PACA-CA 17 45217238 45217239 deletion of <=200bp TG - 3_prime_UTR_variant PACA-CA 17 45217238 45217239 deletion of <=200bp TG - downstream_gene_variant PACA-CA 17 45217238 45217239 deletion of <=200bp TG - intron_variant PACA-CA 17 45217238 45217239 deletion of <=200bp TG - upstream_gene_variant PACA-CA 17 45225479 45225479 single base substitution G A downstream_gene_variant PACA-CA 17 45225479 45225479 single base substitution G A intron_variant PACA-CA 17 45227336 45227336 insertion of <=200bp - A downstream_gene_variant PACA-CA 17 45227336 45227336 insertion of <=200bp - A intron_variant PACA-CA 17 45231386 45231386 single base substitution T C downstream_gene_variant PACA-CA 17 45231386 45231386 single base substitution T C intron_variant PACA-CA 17 45232048 45232048 deletion of <=200bp G - 3_prime_UTR_variant PACA-CA 17 45232048 45232048 deletion of <=200bp G - downstream_gene_variant PACA-CA 17 45232048 45232048 deletion of <=200bp G - exon_variant PACA-CA 17 45232048 45232048 deletion of <=200bp G - frameshift_variant P255 PACA-CA 17 45232048 45232048 deletion of <=200bp G - frameshift_variant P316 PACA-CA 17 45233426 45233426 single base substitution C G downstream_gene_variant PACA-CA 17 45233426 45233426 single base substitution C G intron_variant PACA-CA 17 45235385 45235385 single base substitution T C intron_variant PACA-CA 17 45235385 45235385 single base substitution T C upstream_gene_variant PACA-CA 17 45244543 45244543 single base substitution T A intron_variant PACA-CA 17 45247381 45247381 single base substitution A G exon_variant PACA-CA 17 45247381 45247381 single base substitution A G intron_variant PACA-CA 17 45247381 45247381 single base substitution A G synonymous_variant S32S 96T>C PACA-CA 17 45247381 45247381 single base substitution A G synonymous_variant S93S 279T>C PACA-CA 17 45247381 45247381 single base substitution A G upstream_gene_variant PACA-CA 17 45247648 45247648 single base substitution C G intron_variant PACA-CA 17 45247648 45247648 single base substitution C G upstream_gene_variant PACA-CA 17 45252754 45252773 deletion of <=200bp AAACTATACAAATATCAGAG - intron_variant PACA-CA 17 45252754 45252773 deletion of <=200bp AAACTATACAAATATCAGAG - upstream_gene_variant PACA-CA 17 45254729 45254729 single base substitution G T downstream_gene_variant PACA-CA 17 45254729 45254729 single base substitution G T intron_variant PACA-CA 17 45256917 45256917 single base substitution G A downstream_gene_variant PACA-CA 17 45256917 45256917 single base substitution G A intron_variant PACA-CA 17 45258869 45258869 single base substitution T C exon_variant PACA-CA 17 45258869 45258869 single base substitution T C intron_variant PACA-CA 17 45259676 45259676 single base substitution A G intron_variant PACA-CA 17 45259676 45259676 single base substitution A G upstream_gene_variant PACA-CA 17 45262555 45262555 single base substitution T C intron_variant PACA-CA 17 45262555 45262555 single base substitution T C upstream_gene_variant PACA-CA 17 45264065 45264065 single base substitution G A intron_variant PACA-CA 17 45264653 45264653 single base substitution A G intron_variant PACA-CA 17 45266945 45266945 single base substitution G A upstream_gene_variant PACA-CA 17 45267944 45267944 single base substitution C T upstream_gene_variant PACA-CA 17 45269409 45269409 insertion of <=200bp - T upstream_gene_variant PACA-CA 17 45271136 45271136 deletion of <=200bp T - upstream_gene_variant PACA-CA 17 45271541 45271541 single base substitution G T upstream_gene_variant PAEN-AU 17 45199858 45199858 single base substitution G A 3_prime_UTR_variant PAEN-AU 17 45199858 45199858 single base substitution G A downstream_gene_variant PAEN-AU 17 45199858 45199858 single base substitution G A missense_variant R721C 2161C>T PAEN-AU 17 45199858 45199858 single base substitution G A missense_variant R781C 2341C>T PAEN-AU 17 45199858 45199858 single base substitution G A missense_variant R782C 2344C>T PAEN-AU 17 45199858 45199858 single base substitution G A missense_variant R788C 2362C>T PAEN-AU 17 45199858 45199858 single base substitution G A synonymous_variant S153S 459C>T PAEN-AU 17 45201194 45201194 single base substitution T C intron_variant PAEN-AU 17 45223011 45223011 single base substitution G A intron_variant PAEN-AU 17 45223011 45223011 single base substitution G A upstream_gene_variant PAEN-AU 17 45271363 45271363 single base substitution A C upstream_gene_variant PAEN-IT 17 45199261 45199261 single base substitution A C downstream_gene_variant PAEN-IT 17 45199261 45199261 single base substitution A C intron_variant PAEN-IT 17 45231913 45231913 single base substitution C A downstream_gene_variant PAEN-IT 17 45231913 45231913 single base substitution C A intron_variant PAEN-IT 17 45253013 45253013 single base substitution C T intron_variant PAEN-IT 17 45253013 45253013 single base substitution C T upstream_gene_variant PBCA-DE 17 45193090 45193112 deletion of <=200bp AAAAAAAAAAAAAAAAAAAAAAA - downstream_gene_variant PBCA-DE 17 45210416 45210416 single base substitution C T downstream_gene_variant PBCA-DE 17 45210416 45210416 single base substitution C T intron_variant PBCA-DE 17 45210424 45210424 single base substitution C T downstream_gene_variant PBCA-DE 17 45210424 45210424 single base substitution C T intron_variant PBCA-DE 17 45210426 45210426 single base substitution T C downstream_gene_variant PBCA-DE 17 45210426 45210426 single base substitution T C intron_variant PBCA-DE 17 45211841 45211841 insertion of <=200bp - T downstream_gene_variant PBCA-DE 17 45211841 45211841 insertion of <=200bp - T intron_variant PBCA-DE 17 45219095 45219095 single base substitution A C downstream_gene_variant PBCA-DE 17 45219095 45219095 single base substitution A C intron_variant PBCA-DE 17 45219095 45219095 single base substitution A C upstream_gene_variant PBCA-DE 17 45219100 45219100 single base substitution A T downstream_gene_variant PBCA-DE 17 45219100 45219100 single base substitution A T intron_variant PBCA-DE 17 45219100 45219100 single base substitution A T upstream_gene_variant PBCA-DE 17 45234674 45234674 insertion of <=200bp - GGC 3_prime_UTR_variant PBCA-DE 17 45234674 45234674 insertion of <=200bp - GGC exon_variant PBCA-DE 17 45234674 45234674 insertion of <=200bp - GGC inframe_insertion C123CA PBCA-DE 17 45234674 45234674 insertion of <=200bp - GGC inframe_insertion C184CA PBCA-DE 17 45234674 45234674 insertion of <=200bp - GGC intron_variant PBCA-DE 17 45234674 45234674 insertion of <=200bp - GGC upstream_gene_variant PBCA-DE 17 45246952 45246952 single base substitution A T intron_variant PBCA-DE 17 45255224 45255225 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 17 45255224 45255225 deletion of <=200bp AC - intron_variant PBCA-DE 17 45260384 45260384 insertion of <=200bp - A intron_variant PBCA-DE 17 45260384 45260384 insertion of <=200bp - A upstream_gene_variant PBCA-DE 17 45267828 45267828 deletion of <=200bp C - upstream_gene_variant PBCA-DE 17 45270200 45270200 single base substitution G C upstream_gene_variant PBCA-DE 17 45271318 45271318 single base substitution C T upstream_gene_variant PRAD-CA 17 45191737 45191737 single base substitution G C downstream_gene_variant PRAD-CA 17 45197189 45197189 single base substitution C G 3_prime_UTR_variant PRAD-CA 17 45197189 45197189 single base substitution C G downstream_gene_variant PRAD-CA 17 45198344 45198344 single base substitution G A 3_prime_UTR_variant PRAD-CA 17 45198344 45198344 single base substitution G A downstream_gene_variant PRAD-CA 17 45198344 45198344 single base substitution G A missense_variant A750V 2249C>T PRAD-CA 17 45198344 45198344 single base substitution G A missense_variant A810V 2429C>T PRAD-CA 17 45198344 45198344 single base substitution G A missense_variant A811V 2432C>T PRAD-CA 17 45198344 45198344 single base substitution G A missense_variant A817V 2450C>T PRAD-CA 17 45198345 45198345 single base substitution C T 3_prime_UTR_variant PRAD-CA 17 45198345 45198345 single base substitution C T downstream_gene_variant PRAD-CA 17 45198345 45198345 single base substitution C T missense_variant A750T 2248G>A PRAD-CA 17 45198345 45198345 single base substitution C T missense_variant A810T 2428G>A PRAD-CA 17 45198345 45198345 single base substitution C T missense_variant A811T 2431G>A PRAD-CA 17 45198345 45198345 single base substitution C T missense_variant A817T 2449G>A PRAD-CA 17 45234841 45234841 single base substitution A G intron_variant PRAD-CA 17 45234841 45234841 single base substitution A G upstream_gene_variant PRAD-CA 17 45246361 45246361 single base substitution C T intron_variant PRAD-UK 17 45209156 45209156 single base substitution T A intron_variant PRAD-UK 17 45209157 45209157 single base substitution C T intron_variant PRAD-UK 17 45212743 45212743 single base substitution A C downstream_gene_variant PRAD-UK 17 45212743 45212743 single base substitution A C intron_variant PRAD-UK 17 45224983 45224983 single base substitution C T downstream_gene_variant PRAD-UK 17 45224983 45224983 single base substitution C T intron_variant PRAD-UK 17 45225170 45225170 single base substitution C T downstream_gene_variant PRAD-UK 17 45225170 45225170 single base substitution C T intron_variant PRAD-UK 17 45234587 45234587 single base substitution G C downstream_gene_variant PRAD-UK 17 45234587 45234587 single base substitution G C intron_variant PRAD-UK 17 45234587 45234587 single base substitution G C upstream_gene_variant PRAD-UK 17 45238478 45238478 single base substitution C A intron_variant PRAD-UK 17 45238478 45238478 single base substitution C A upstream_gene_variant PRAD-UK 17 45239806 45239806 single base substitution G A intron_variant PRAD-UK 17 45251822 45251826 deletion of <=200bp CTTAT - intron_variant PRAD-UK 17 45251822 45251826 deletion of <=200bp CTTAT - upstream_gene_variant PRAD-UK 17 45264095 45264095 single base substitution C A intron_variant PRAD-UK 17 45269453 45269453 single base substitution G C upstream_gene_variant PRAD-US 17 45219612 45219612 deletion of <=200bp A - 3_prime_UTR_variant PRAD-US 17 45219612 45219612 deletion of <=200bp A - downstream_gene_variant PRAD-US 17 45219612 45219612 deletion of <=200bp A - exon_variant PRAD-US 17 45219612 45219612 deletion of <=200bp A - frameshift_variant L393 PRAD-US 17 45219612 45219612 deletion of <=200bp A - frameshift_variant L454 PRAD-US 17 45219612 45219612 deletion of <=200bp A - frameshift_variant L460 PRAD-US 17 45219612 45219612 deletion of <=200bp A - intron_variant PRAD-US 17 45247389 45247389 deletion of <=200bp T - exon_variant PRAD-US 17 45247389 45247389 deletion of <=200bp T - frameshift_variant I30 PRAD-US 17 45247389 45247389 deletion of <=200bp T - frameshift_variant I91 PRAD-US 17 45247389 45247389 deletion of <=200bp T - intron_variant PRAD-US 17 45247389 45247389 deletion of <=200bp T - upstream_gene_variant READ-US 17 45221351 45221351 deletion of <=200bp A - intron_variant READ-US 17 45221351 45221351 deletion of <=200bp A - splice_region_variant READ-US 17 45221351 45221351 deletion of <=200bp A - upstream_gene_variant RECA-EU 17 45203657 45203657 single base substitution T C intron_variant RECA-EU 17 45203657 45203657 single base substitution T C upstream_gene_variant RECA-EU 17 45204236 45204236 single base substitution A C intron_variant RECA-EU 17 45204236 45204236 single base substitution A C upstream_gene_variant RECA-EU 17 45213035 45213035 single base substitution C T downstream_gene_variant RECA-EU 17 45213035 45213035 single base substitution C T intron_variant RECA-EU 17 45220560 45220560 single base substitution G A downstream_gene_variant RECA-EU 17 45220560 45220560 single base substitution G A intron_variant RECA-EU 17 45220560 45220560 single base substitution G A upstream_gene_variant RECA-EU 17 45222394 45222394 single base substitution G A intron_variant RECA-EU 17 45222394 45222394 single base substitution G A upstream_gene_variant RECA-EU 17 45235163 45235163 single base substitution C T intron_variant RECA-EU 17 45235163 45235163 single base substitution C T upstream_gene_variant RECA-EU 17 45240058 45240058 single base substitution C A intron_variant RECA-EU 17 45240371 45240371 single base substitution G T intron_variant RECA-EU 17 45244448 45244448 single base substitution C T intron_variant RECA-EU 17 45245265 45245265 single base substitution A G intron_variant RECA-EU 17 45255677 45255677 single base substitution G A downstream_gene_variant RECA-EU 17 45255677 45255677 single base substitution G A intron_variant RECA-EU 17 45258312 45258312 single base substitution A C downstream_gene_variant RECA-EU 17 45258312 45258312 single base substitution A C intron_variant SKCA-BR 17 45190276 45190277 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 17 45190309 45190309 single base substitution G A downstream_gene_variant SKCA-BR 17 45190967 45190967 single base substitution G A downstream_gene_variant SKCA-BR 17 45192357 45192358 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 17 45193970 45193970 single base substitution G A downstream_gene_variant SKCA-BR 17 45201544 45201544 insertion of <=200bp - AACACACAC intron_variant SKCA-BR 17 45201544 45201544 insertion of <=200bp - AACACACAC upstream_gene_variant SKCA-BR 17 45202596 45202596 single base substitution G A intron_variant SKCA-BR 17 45202596 45202596 single base substitution G A upstream_gene_variant SKCA-BR 17 45203828 45203828 single base substitution G A intron_variant SKCA-BR 17 45203828 45203828 single base substitution G A upstream_gene_variant SKCA-BR 17 45206703 45206703 single base substitution G A intron_variant SKCA-BR 17 45207754 45207754 single base substitution G A intron_variant SKCA-BR 17 45211672 45211673 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 17 45211672 45211673 deletion of <=200bp AT - intron_variant SKCA-BR 17 45219493 45219493 single base substitution C A downstream_gene_variant SKCA-BR 17 45219493 45219493 single base substitution C A intron_variant SKCA-BR 17 45219493 45219493 single base substitution C A upstream_gene_variant SKCA-BR 17 45220729 45220729 single base substitution G A downstream_gene_variant SKCA-BR 17 45220729 45220729 single base substitution G A intron_variant SKCA-BR 17 45220729 45220729 single base substitution G A upstream_gene_variant SKCA-BR 17 45223090 45223090 single base substitution A C intron_variant SKCA-BR 17 45223090 45223090 single base substitution A C upstream_gene_variant SKCA-BR 17 45223165 45223165 single base substitution T G intron_variant SKCA-BR 17 45223165 45223165 single base substitution T G upstream_gene_variant SKCA-BR 17 45223194 45223194 single base substitution T G intron_variant SKCA-BR 17 45223194 45223194 single base substitution T G upstream_gene_variant SKCA-BR 17 45224794 45224794 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 17 45224794 45224794 insertion of <=200bp - CA intron_variant SKCA-BR 17 45226093 45226093 single base substitution T G downstream_gene_variant SKCA-BR 17 45226093 45226093 single base substitution T G intron_variant SKCA-BR 17 45226609 45226609 single base substitution G A downstream_gene_variant SKCA-BR 17 45226609 45226609 single base substitution G A intron_variant SKCA-BR 17 45227765 45227765 single base substitution G T downstream_gene_variant SKCA-BR 17 45227765 45227765 single base substitution G T intron_variant SKCA-BR 17 45231130 45231130 single base substitution A G downstream_gene_variant SKCA-BR 17 45231130 45231130 single base substitution A G intron_variant SKCA-BR 17 45231659 45231659 single base substitution G A downstream_gene_variant SKCA-BR 17 45231659 45231659 single base substitution G A intron_variant SKCA-BR 17 45241323 45241323 single base substitution T G intron_variant SKCA-BR 17 45251354 45251354 single base substitution G A intron_variant SKCA-BR 17 45251354 45251354 single base substitution G A upstream_gene_variant SKCA-BR 17 45251355 45251355 single base substitution G A intron_variant SKCA-BR 17 45251355 45251355 single base substitution G A upstream_gene_variant SKCA-BR 17 45252456 45252464 deletion of <=200bp GAAGGAAGT - intron_variant SKCA-BR 17 45252456 45252464 deletion of <=200bp GAAGGAAGT - upstream_gene_variant SKCA-BR 17 45252464 45252464 single base substitution T G intron_variant SKCA-BR 17 45252464 45252464 single base substitution T G upstream_gene_variant SKCA-BR 17 45254573 45254573 single base substitution G A downstream_gene_variant SKCA-BR 17 45254573 45254573 single base substitution G A intron_variant SKCA-BR 17 45254650 45254650 single base substitution T A downstream_gene_variant SKCA-BR 17 45254650 45254650 single base substitution T A intron_variant SKCA-BR 17 45266684 45266684 single base substitution G A exon_variant SKCA-BR 17 45266684 45266684 single base substitution G A upstream_gene_variant SKCA-BR 17 45266745 45266745 single base substitution G A exon_variant SKCA-BR 17 45266745 45266745 single base substitution G A upstream_gene_variant SKCA-BR 17 45270261 45270261 single base substitution G A upstream_gene_variant SKCA-BR 17 45271202 45271202 single base substitution A G upstream_gene_variant SKCA-BR 17 45271408 45271408 single base substitution A C upstream_gene_variant SKCM-US 17 45199825 45199825 single base substitution G A 3_prime_UTR_variant SKCM-US 17 45199825 45199825 single base substitution G A downstream_gene_variant SKCM-US 17 45199825 45199825 single base substitution G A stop_gained Q732* 2194C>T SKCM-US 17 45199825 45199825 single base substitution G A stop_gained Q792* 2374C>T SKCM-US 17 45199825 45199825 single base substitution G A stop_gained Q793* 2377C>T SKCM-US 17 45199825 45199825 single base substitution G A stop_gained Q799* 2395C>T SKCM-US 17 45201273 45201273 single base substitution G A 3_prime_UTR_variant SKCM-US 17 45201273 45201273 single base substitution G A synonymous_variant L131L 393C>T SKCM-US 17 45201273 45201273 single base substitution G A synonymous_variant L677L 2031C>T SKCM-US 17 45201273 45201273 single base substitution G A synonymous_variant L737L 2211C>T SKCM-US 17 45201273 45201273 single base substitution G A synonymous_variant L738L 2214C>T SKCM-US 17 45201273 45201273 single base substitution G A synonymous_variant L744L 2232C>T SKCM-US 17 45201273 45201273 single base substitution G A upstream_gene_variant SKCM-US 17 45214564 45214564 single base substitution A T 3_prime_UTR_variant SKCM-US 17 45214564 45214564 single base substitution A T downstream_gene_variant SKCM-US 17 45214564 45214564 single base substitution A T intron_variant SKCM-US 17 45214564 45214564 single base substitution A T missense_variant C16S 46T>A SKCM-US 17 45214564 45214564 single base substitution A T missense_variant C562S 1684T>A SKCM-US 17 45214564 45214564 single base substitution A T missense_variant C622S 1864T>A SKCM-US 17 45214564 45214564 single base substitution A T missense_variant C623S 1867T>A SKCM-US 17 45214564 45214564 single base substitution A T missense_variant C629S 1885T>A SKCM-US 17 45219350 45219350 single base substitution A C 3_prime_UTR_variant SKCM-US 17 45219350 45219350 single base substitution A C downstream_gene_variant SKCM-US 17 45219350 45219350 single base substitution A C exon_variant SKCM-US 17 45219350 45219350 single base substitution A C intron_variant SKCM-US 17 45219350 45219350 single base substitution A C missense_variant L413V 1237T>G SKCM-US 17 45219350 45219350 single base substitution A C missense_variant L473V 1417T>G SKCM-US 17 45219350 45219350 single base substitution A C missense_variant L474V 1420T>G SKCM-US 17 45219350 45219350 single base substitution A C missense_variant L480V 1438T>G SKCM-US 17 45219350 45219350 single base substitution A C upstream_gene_variant SKCM-US 17 45219612 45219612 deletion of <=200bp A - 3_prime_UTR_variant SKCM-US 17 45219612 45219612 deletion of <=200bp A - downstream_gene_variant SKCM-US 17 45219612 45219612 deletion of <=200bp A - exon_variant SKCM-US 17 45219612 45219612 deletion of <=200bp A - frameshift_variant L393 SKCM-US 17 45219612 45219612 deletion of <=200bp A - frameshift_variant L454 SKCM-US 17 45219612 45219612 deletion of <=200bp A - frameshift_variant L460 SKCM-US 17 45219612 45219612 deletion of <=200bp A - intron_variant SKCM-US 17 45219678 45219678 single base substitution A G 3_prime_UTR_variant SKCM-US 17 45219678 45219678 single base substitution A G downstream_gene_variant SKCM-US 17 45219678 45219678 single base substitution A G exon_variant SKCM-US 17 45219678 45219678 single base substitution A G intron_variant SKCM-US 17 45219678 45219678 single base substitution A G missense_variant L371S 1112T>C SKCM-US 17 45219678 45219678 single base substitution A G missense_variant L432S 1295T>C SKCM-US 17 45219678 45219678 single base substitution A G missense_variant L438S 1313T>C SKCM-US 17 45221283 45221283 single base substitution G A 3_prime_UTR_variant SKCM-US 17 45221283 45221283 single base substitution G A exon_variant SKCM-US 17 45221283 45221283 single base substitution G A intron_variant SKCM-US 17 45221283 45221283 single base substitution G A missense_variant S318L 953C>T SKCM-US 17 45221283 45221283 single base substitution G A missense_variant S379L 1136C>T SKCM-US 17 45221283 45221283 single base substitution G A missense_variant S385L 1154C>T SKCM-US 17 45221283 45221283 single base substitution G A upstream_gene_variant SKCM-US 17 45232057 45232057 single base substitution G A 3_prime_UTR_variant SKCM-US 17 45232057 45232057 single base substitution G A downstream_gene_variant SKCM-US 17 45232057 45232057 single base substitution G A exon_variant SKCM-US 17 45232057 45232057 single base substitution G A missense_variant T252I 755C>T SKCM-US 17 45232057 45232057 single base substitution G A missense_variant T313I 938C>T SKCM-US 17 45234304 45234304 single base substitution C T 3_prime_UTR_variant SKCM-US 17 45234304 45234304 single base substitution C T downstream_gene_variant SKCM-US 17 45234304 45234304 single base substitution C T exon_variant SKCM-US 17 45234304 45234304 single base substitution C T intron_variant SKCM-US 17 45234304 45234304 single base substitution C T missense_variant A212T 634G>A SKCM-US 17 45234304 45234304 single base substitution C T missense_variant A226T 676G>A SKCM-US 17 45234304 45234304 single base substitution C T missense_variant A273T 817G>A SKCM-US 17 45234304 45234304 single base substitution C T upstream_gene_variant SKCM-US 17 45234323 45234323 single base substitution T C 3_prime_UTR_variant SKCM-US 17 45234323 45234323 single base substitution T C downstream_gene_variant SKCM-US 17 45234323 45234323 single base substitution T C exon_variant SKCM-US 17 45234323 45234323 single base substitution T C intron_variant SKCM-US 17 45234323 45234323 single base substitution T C synonymous_variant R205R 615A>G SKCM-US 17 45234323 45234323 single base substitution T C synonymous_variant R219R 657A>G SKCM-US 17 45234323 45234323 single base substitution T C synonymous_variant R266R 798A>G SKCM-US 17 45234323 45234323 single base substitution T C upstream_gene_variant SKCM-US 17 45234324 45234324 single base substitution C T 3_prime_UTR_variant SKCM-US 17 45234324 45234324 single base substitution C T downstream_gene_variant SKCM-US 17 45234324 45234324 single base substitution C T exon_variant SKCM-US 17 45234324 45234324 single base substitution C T intron_variant SKCM-US 17 45234324 45234324 single base substitution C T missense_variant R205Q 614G>A SKCM-US 17 45234324 45234324 single base substitution C T missense_variant R219Q 656G>A SKCM-US 17 45234324 45234324 single base substitution C T missense_variant R266Q 797G>A SKCM-US 17 45234324 45234324 single base substitution C T upstream_gene_variant SKCM-US 17 45234366 45234366 single base substitution G A 3_prime_UTR_variant SKCM-US 17 45234366 45234366 single base substitution G A downstream_gene_variant SKCM-US 17 45234366 45234366 single base substitution G A exon_variant SKCM-US 17 45234366 45234366 single base substitution G A intron_variant SKCM-US 17 45234366 45234366 single base substitution G A missense_variant S191F 572C>T SKCM-US 17 45234366 45234366 single base substitution G A missense_variant S252F 755C>T SKCM-US 17 45234366 45234366 single base substitution G A upstream_gene_variant SKCM-US 17 45234378 45234378 single base substitution C T 3_prime_UTR_variant SKCM-US 17 45234378 45234378 single base substitution C T downstream_gene_variant SKCM-US 17 45234378 45234378 single base substitution C T exon_variant SKCM-US 17 45234378 45234378 single base substitution C T intron_variant SKCM-US 17 45234378 45234378 single base substitution C T missense_variant G187E 560G>A SKCM-US 17 45234378 45234378 single base substitution C T missense_variant G248E 743G>A SKCM-US 17 45234378 45234378 single base substitution C T upstream_gene_variant SKCM-US 17 45234395 45234395 single base substitution A T 3_prime_UTR_variant SKCM-US 17 45234395 45234395 single base substitution A T downstream_gene_variant SKCM-US 17 45234395 45234395 single base substitution A T exon_variant SKCM-US 17 45234395 45234395 single base substitution A T intron_variant SKCM-US 17 45234395 45234395 single base substitution A T synonymous_variant P181P 543T>A SKCM-US 17 45234395 45234395 single base substitution A T synonymous_variant P242P 726T>A SKCM-US 17 45234395 45234395 single base substitution A T upstream_gene_variant SKCM-US 17 45234463 45234463 single base substitution A C 3_prime_UTR_variant SKCM-US 17 45234463 45234463 single base substitution A C downstream_gene_variant SKCM-US 17 45234463 45234463 single base substitution A C exon_variant SKCM-US 17 45234463 45234463 single base substitution A C intron_variant SKCM-US 17 45234463 45234463 single base substitution A C missense_variant S159A 475T>G SKCM-US 17 45234463 45234463 single base substitution A C missense_variant S220A 658T>G SKCM-US 17 45234463 45234463 single base substitution A C upstream_gene_variant SKCM-US 17 45234714 45234714 single base substitution G T 3_prime_UTR_variant SKCM-US 17 45234714 45234714 single base substitution G T exon_variant SKCM-US 17 45234714 45234714 single base substitution G T intron_variant SKCM-US 17 45234714 45234714 single base substitution G T missense_variant T110K 329C>A SKCM-US 17 45234714 45234714 single base substitution G T missense_variant T171K 512C>A SKCM-US 17 45234714 45234714 single base substitution G T upstream_gene_variant SKCM-US 17 45234749 45234749 single base substitution A C intron_variant SKCM-US 17 45234749 45234749 single base substitution A C splice_region_variant SKCM-US 17 45234749 45234749 single base substitution A C upstream_gene_variant SKCM-US 17 45247389 45247389 deletion of <=200bp T - exon_variant SKCM-US 17 45247389 45247389 deletion of <=200bp T - frameshift_variant I30 SKCM-US 17 45247389 45247389 deletion of <=200bp T - frameshift_variant I91 SKCM-US 17 45247389 45247389 deletion of <=200bp T - intron_variant SKCM-US 17 45247389 45247389 deletion of <=200bp T - upstream_gene_variant SKCM-US 17 45266512 45266512 single base substitution C T intron_variant SKCM-US 17 45266512 45266512 single base substitution C T splice_region_variant SKCM-US 17 45266512 45266512 single base substitution C T upstream_gene_variant STAD-US 17 45199935 45199935 single base substitution G A 3_prime_UTR_variant STAD-US 17 45199935 45199935 single base substitution G A exon_variant STAD-US 17 45199935 45199935 single base substitution G A intron_variant STAD-US 17 45199935 45199935 single base substitution G A missense_variant A695V 2084C>T STAD-US 17 45199935 45199935 single base substitution G A missense_variant A755V 2264C>T STAD-US 17 45199935 45199935 single base substitution G A missense_variant A756V 2267C>T STAD-US 17 45199935 45199935 single base substitution G A missense_variant A762V 2285C>T STAD-US 17 45219283 45219283 single base substitution T C 3_prime_UTR_variant STAD-US 17 45219283 45219283 single base substitution T C downstream_gene_variant STAD-US 17 45219283 45219283 single base substitution T C exon_variant STAD-US 17 45219283 45219283 single base substitution T C intron_variant STAD-US 17 45219283 45219283 single base substitution T C missense_variant Y435C 1304A>G STAD-US 17 45219283 45219283 single base substitution T C missense_variant Y495C 1484A>G STAD-US 17 45219283 45219283 single base substitution T C missense_variant Y496C 1487A>G STAD-US 17 45219283 45219283 single base substitution T C missense_variant Y502C 1505A>G STAD-US 17 45219283 45219283 single base substitution T C upstream_gene_variant STAD-US 17 45235659 45235659 single base substitution G A exon_variant STAD-US 17 45235659 45235659 single base substitution G A intron_variant STAD-US 17 45235659 45235659 single base substitution G A missense_variant R130W 388C>T STAD-US 17 45235659 45235659 single base substitution G A missense_variant R69W 205C>T STAD-US 17 45235659 45235659 single base substitution G A upstream_gene_variant THCA-SA 17 45195821 45195821 single base substitution C A 3_prime_UTR_variant THCA-SA 17 45195821 45195821 single base substitution C A downstream_gene_variant THCA-SA 17 45197296 45197296 single base substitution C T 3_prime_UTR_variant THCA-SA 17 45197296 45197296 single base substitution C T downstream_gene_variant THCA-SA 17 45197317 45197317 single base substitution C G 3_prime_UTR_variant THCA-SA 17 45197317 45197317 single base substitution C G downstream_gene_variant THCA-SA 17 45214604 45214604 single base substitution A T 3_prime_UTR_variant THCA-SA 17 45214604 45214604 single base substitution A T downstream_gene_variant THCA-SA 17 45214604 45214604 single base substitution A T intron_variant THCA-SA 17 45214604 45214604 single base substitution A T missense_variant H2Q 6T>A THCA-SA 17 45214604 45214604 single base substitution A T missense_variant H548Q 1644T>A THCA-SA 17 45214604 45214604 single base substitution A T missense_variant H608Q 1824T>A THCA-SA 17 45214604 45214604 single base substitution A T missense_variant H609Q 1827T>A THCA-SA 17 45214604 45214604 single base substitution A T missense_variant H615Q 1845T>A THCA-SA 17 45214605 45214605 single base substitution T C 3_prime_UTR_variant THCA-SA 17 45214605 45214605 single base substitution T C downstream_gene_variant THCA-SA 17 45214605 45214605 single base substitution T C intron_variant THCA-SA 17 45214605 45214605 single base substitution T C missense_variant H2R 5A>G THCA-SA 17 45214605 45214605 single base substitution T C missense_variant H548R 1643A>G THCA-SA 17 45214605 45214605 single base substitution T C missense_variant H608R 1823A>G THCA-SA 17 45214605 45214605 single base substitution T C missense_variant H609R 1826A>G THCA-SA 17 45214605 45214605 single base substitution T C missense_variant H615R 1844A>G THCA-SA 17 45214606 45214606 single base substitution G T 3_prime_UTR_variant THCA-SA 17 45214606 45214606 single base substitution G T downstream_gene_variant THCA-SA 17 45214606 45214606 single base substitution G T intron_variant THCA-SA 17 45214606 45214606 single base substitution G T missense_variant H2N 4C>A THCA-SA 17 45214606 45214606 single base substitution G T missense_variant H548N 1642C>A THCA-SA 17 45214606 45214606 single base substitution G T missense_variant H608N 1822C>A THCA-SA 17 45214606 45214606 single base substitution G T missense_variant H609N 1825C>A THCA-SA 17 45214606 45214606 single base substitution G T missense_variant H615N 1843C>A THCA-SA 17 45219311 45219311 single base substitution T C 3_prime_UTR_variant THCA-SA 17 45219311 45219311 single base substitution T C downstream_gene_variant THCA-SA 17 45219311 45219311 single base substitution T C exon_variant THCA-SA 17 45219311 45219311 single base substitution T C intron_variant THCA-SA 17 45219311 45219311 single base substitution T C missense_variant I426V 1276A>G THCA-SA 17 45219311 45219311 single base substitution T C missense_variant I486V 1456A>G THCA-SA 17 45219311 45219311 single base substitution T C missense_variant I487V 1459A>G THCA-SA 17 45219311 45219311 single base substitution T C missense_variant I493V 1477A>G THCA-SA 17 45219311 45219311 single base substitution T C upstream_gene_variant THCA-SA 17 45219354 45219354 single base substitution A G 3_prime_UTR_variant THCA-SA 17 45219354 45219354 single base substitution A G downstream_gene_variant THCA-SA 17 45219354 45219354 single base substitution A G exon_variant THCA-SA 17 45219354 45219354 single base substitution A G intron_variant THCA-SA 17 45219354 45219354 single base substitution A G synonymous_variant G411G 1233T>C THCA-SA 17 45219354 45219354 single base substitution A G synonymous_variant G471G 1413T>C THCA-SA 17 45219354 45219354 single base substitution A G synonymous_variant G472G 1416T>C THCA-SA 17 45219354 45219354 single base substitution A G synonymous_variant G478G 1434T>C THCA-SA 17 45219354 45219354 single base substitution A G upstream_gene_variant THCA-SA 17 45234303 45234303 single base substitution G C 3_prime_UTR_variant THCA-SA 17 45234303 45234303 single base substitution G C downstream_gene_variant THCA-SA 17 45234303 45234303 single base substitution G C exon_variant THCA-SA 17 45234303 45234303 single base substitution G C intron_variant THCA-SA 17 45234303 45234303 single base substitution G C missense_variant A212G 635C>G THCA-SA 17 45234303 45234303 single base substitution G C missense_variant A226G 677C>G THCA-SA 17 45234303 45234303 single base substitution G C missense_variant A273G 818C>G THCA-SA 17 45234303 45234303 single base substitution G C upstream_gene_variant THCA-SA 17 45234397 45234397 single base substitution G A 3_prime_UTR_variant THCA-SA 17 45234397 45234397 single base substitution G A downstream_gene_variant THCA-SA 17 45234397 45234397 single base substitution G A exon_variant THCA-SA 17 45234397 45234397 single base substitution G A intron_variant THCA-SA 17 45234397 45234397 single base substitution G A missense_variant P181S 541C>T THCA-SA 17 45234397 45234397 single base substitution G A missense_variant P242S 724C>T THCA-SA 17 45234397 45234397 single base substitution G A upstream_gene_variant THCA-SA 17 45234671 45234671 insertion of <=200bp - GCG 3_prime_UTR_variant THCA-SA 17 45234671 45234671 insertion of <=200bp - GCG exon_variant THCA-SA 17 45234671 45234671 insertion of <=200bp - GCG inframe_insertion T124TR THCA-SA 17 45234671 45234671 insertion of <=200bp - GCG inframe_insertion T185TR THCA-SA 17 45234671 45234671 insertion of <=200bp - GCG intron_variant THCA-SA 17 45234671 45234671 insertion of <=200bp - GCG upstream_gene_variant THCA-SA 17 45234710 45234710 single base substitution A C 3_prime_UTR_variant THCA-SA 17 45234710 45234710 single base substitution A C exon_variant THCA-SA 17 45234710 45234710 single base substitution A C intron_variant THCA-SA 17 45234710 45234710 single base substitution A C synonymous_variant S111S 333T>G THCA-SA 17 45234710 45234710 single base substitution A C synonymous_variant S172S 516T>G THCA-SA 17 45234710 45234710 single base substitution A C upstream_gene_variant THCA-SA 17 45234713 45234713 single base substitution T C 3_prime_UTR_variant THCA-SA 17 45234713 45234713 single base substitution T C exon_variant THCA-SA 17 45234713 45234713 single base substitution T C intron_variant THCA-SA 17 45234713 45234713 single base substitution T C synonymous_variant T110T 330A>G THCA-SA 17 45234713 45234713 single base substitution T C synonymous_variant T171T 513A>G THCA-SA 17 45234713 45234713 single base substitution T C upstream_gene_variant THCA-SA 17 45234725 45234725 single base substitution T C 3_prime_UTR_variant THCA-SA 17 45234725 45234725 single base substitution T C exon_variant THCA-SA 17 45234725 45234725 single base substitution T C intron_variant THCA-SA 17 45234725 45234725 single base substitution T C synonymous_variant T106T 318A>G THCA-SA 17 45234725 45234725 single base substitution T C synonymous_variant T167T 501A>G THCA-SA 17 45234725 45234725 single base substitution T C upstream_gene_variant THCA-SA 17 45247328 45247328 single base substitution C T exon_variant THCA-SA 17 45247328 45247328 single base substitution C T intron_variant THCA-SA 17 45247328 45247328 single base substitution C T missense_variant G111D 332G>A THCA-SA 17 45247328 45247328 single base substitution C T missense_variant G50D 149G>A UCEC-US 17 45206816 45206816 single base substitution C A 3_prime_UTR_variant UCEC-US 17 45206816 45206816 single base substitution C A missense_variant K640N 1920G>T UCEC-US 17 45206816 45206816 single base substitution C A missense_variant K700N 2100G>T UCEC-US 17 45206816 45206816 single base substitution C A missense_variant K701N 2103G>T UCEC-US 17 45206816 45206816 single base substitution C A missense_variant K707N 2121G>T UCEC-US 17 45206816 45206816 single base substitution C A missense_variant K94N 282G>T UCEC-US 17 45214585 45214585 single base substitution C A 3_prime_UTR_variant UCEC-US 17 45214585 45214585 single base substitution C A downstream_gene_variant UCEC-US 17 45214585 45214585 single base substitution C A intron_variant UCEC-US 17 45214585 45214585 single base substitution C A stop_gained E555* 1663G>T UCEC-US 17 45214585 45214585 single base substitution C A stop_gained E615* 1843G>T UCEC-US 17 45214585 45214585 single base substitution C A stop_gained E616* 1846G>T UCEC-US 17 45214585 45214585 single base substitution C A stop_gained E622* 1864G>T UCEC-US 17 45214585 45214585 single base substitution C A stop_gained E9* 25G>T UCEC-US 17 45214611 45214611 single base substitution A G 3_prime_UTR_variant UCEC-US 17 45214611 45214611 single base substitution A G downstream_gene_variant UCEC-US 17 45214611 45214611 single base substitution A G intron_variant UCEC-US 17 45214611 45214611 single base substitution A G missense_variant L546S 1637T>C UCEC-US 17 45214611 45214611 single base substitution A G missense_variant L606S 1817T>C UCEC-US 17 45214611 45214611 single base substitution A G missense_variant L607S 1820T>C UCEC-US 17 45214611 45214611 single base substitution A G missense_variant L613S 1838T>C UCEC-US 17 45214611 45214611 single base substitution A G upstream_gene_variant UCEC-US 17 45216112 45216112 single base substitution G A 3_prime_UTR_variant UCEC-US 17 45216112 45216112 single base substitution G A downstream_gene_variant UCEC-US 17 45216112 45216112 single base substitution G A intron_variant UCEC-US 17 45216112 45216112 single base substitution G A missense_variant S505L 1514C>T UCEC-US 17 45216112 45216112 single base substitution G A missense_variant S565L 1694C>T UCEC-US 17 45216112 45216112 single base substitution G A missense_variant S566L 1697C>T UCEC-US 17 45216112 45216112 single base substitution G A missense_variant S572L 1715C>T UCEC-US 17 45216112 45216112 single base substitution G A upstream_gene_variant UCEC-US 17 45219311 45219311 single base substitution T C 3_prime_UTR_variant UCEC-US 17 45219311 45219311 single base substitution T C downstream_gene_variant UCEC-US 17 45219311 45219311 single base substitution T C exon_variant UCEC-US 17 45219311 45219311 single base substitution T C intron_variant UCEC-US 17 45219311 45219311 single base substitution T C missense_variant I426V 1276A>G UCEC-US 17 45219311 45219311 single base substitution T C missense_variant I486V 1456A>G UCEC-US 17 45219311 45219311 single base substitution T C missense_variant I487V 1459A>G UCEC-US 17 45219311 45219311 single base substitution T C missense_variant I493V 1477A>G UCEC-US 17 45219311 45219311 single base substitution T C upstream_gene_variant UCEC-US 17 45219790 45219790 single base substitution T G 3_prime_UTR_variant UCEC-US 17 45219790 45219790 single base substitution T G downstream_gene_variant UCEC-US 17 45219790 45219790 single base substitution T G intron_variant UCEC-US 17 45219790 45219790 single base substitution T G missense_variant K334Q 1000A>C UCEC-US 17 45219790 45219790 single base substitution T G missense_variant K395Q 1183A>C UCEC-US 17 45219790 45219790 single base substitution T G missense_variant K401Q 1201A>C UCEC-US 17 45219790 45219790 single base substitution T G upstream_gene_variant UCEC-US 17 45221302 45221302 single base substitution C T 3_prime_UTR_variant UCEC-US 17 45221302 45221302 single base substitution C T exon_variant UCEC-US 17 45221302 45221302 single base substitution C T intron_variant UCEC-US 17 45221302 45221302 single base substitution C T missense_variant A312T 934G>A UCEC-US 17 45221302 45221302 single base substitution C T missense_variant A373T 1117G>A UCEC-US 17 45221302 45221302 single base substitution C T missense_variant A379T 1135G>A UCEC-US 17 45221302 45221302 single base substitution C T upstream_gene_variant UCEC-US 17 45221335 45221335 single base substitution C T 3_prime_UTR_variant UCEC-US 17 45221335 45221335 single base substitution C T exon_variant UCEC-US 17 45221335 45221335 single base substitution C T intron_variant UCEC-US 17 45221335 45221335 single base substitution C T missense_variant V301I 901G>A UCEC-US 17 45221335 45221335 single base substitution C T missense_variant V362I 1084G>A UCEC-US 17 45221335 45221335 single base substitution C T missense_variant V368I 1102G>A UCEC-US 17 45221335 45221335 single base substitution C T upstream_gene_variant UCEC-US 17 45229176 45229176 single base substitution T C 3_prime_UTR_variant UCEC-US 17 45229176 45229176 single base substitution T C downstream_gene_variant UCEC-US 17 45229176 45229176 single base substitution T C exon_variant UCEC-US 17 45229176 45229176 single base substitution T C intron_variant UCEC-US 17 45229176 45229176 single base substitution T C missense_variant T295A 883A>G UCEC-US 17 45229176 45229176 single base substitution T C missense_variant T356A 1066A>G UCEC-US 17 45229176 45229176 single base substitution T C missense_variant T362A 1084A>G UCEC-US 17 45234337 45234337 single base substitution G A 3_prime_UTR_variant UCEC-US 17 45234337 45234337 single base substitution G A downstream_gene_variant UCEC-US 17 45234337 45234337 single base substitution G A exon_variant UCEC-US 17 45234337 45234337 single base substitution G A intron_variant UCEC-US 17 45234337 45234337 single base substitution G A missense_variant P201S 601C>T UCEC-US 17 45234337 45234337 single base substitution G A missense_variant P215S 643C>T UCEC-US 17 45234337 45234337 single base substitution G A missense_variant P262S 784C>T UCEC-US 17 45234337 45234337 single base substitution G A upstream_gene_variant UCEC-US 17 45234661 45234661 single base substitution G A 3_prime_UTR_variant UCEC-US 17 45234661 45234661 single base substitution G A exon_variant UCEC-US 17 45234661 45234661 single base substitution G A intron_variant UCEC-US 17 45234661 45234661 single base substitution G A missense_variant P128S 382C>T UCEC-US 17 45234661 45234661 single base substitution G A missense_variant P189S 565C>T UCEC-US 17 45234661 45234661 single base substitution G A upstream_gene_variant UCEC-US 17 45247390 45247390 single base substitution T G exon_variant UCEC-US 17 45247390 45247390 single base substitution T G intron_variant UCEC-US 17 45247390 45247390 single base substitution T G missense_variant Q29H 87A>C UCEC-US 17 45247390 45247390 single base substitution T G missense_variant Q90H 270A>C UCEC-US 17 45247390 45247390 single base substitution T G upstream_gene_variant UCEC-US 17 45249350 45249350 single base substitution T C exon_variant UCEC-US 17 45249350 45249350 single base substitution T C intron_variant UCEC-US 17 45249350 45249350 single base substitution T C missense_variant K62E 184A>G UCEC-US 17 45249350 45249350 single base substitution T C upstream_gene_variant UCEC-US 17 45249385 45249385 single base substitution C T exon_variant UCEC-US 17 45249385 45249385 single base substitution C T intron_variant UCEC-US 17 45249385 45249385 single base substitution C T missense_variant R50H 149G>A UCEC-US 17 45249385 45249385 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 sysucc-1163T COSM1383877 c.1795A>G p.N599D Substitution - Missense 17:47137270-47137270 - B89-10-Tumor COSM3932643 c.1266C>T p.N422N Substitution - coding silent 17:47142341-47142341 - CN-AML-CR-29-Dx COSM3755615 c.1741C>T p.R581W Substitution - Missense 17:47137324-47137324 - WSU-HN12 COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - PT35 COSM5913858 c.1433C>T p.S478L Substitution - Missense 17:47141971-47141971 - QC2-22-T2 COSM5653064 c.562G>A p.V188I Substitution - Missense 17:47157298-47157298 - CN-AML-NR-09-Dx COSM293444 c.501A>G p.T167T Substitution - coding silent 17:47157359-47157359 - TCGA-AG-A002-01 COSM260017 c.2051A>C p.K684T Substitution - Missense 17:47129502-47129502 - sysucc-918T COSM1563799 c.1808C>T p.A603V Substitution - Missense 17:47137257-47137257 - Detroit_562 COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - UM-SCC-17B COSM4593711 c.1873C>T p.R625* Substitution - Nonsense 17:47137192-47137192 - LN18 COSM5712803 c.1880C>T p.A627V Substitution - Missense 17:47137185-47137185 - U343 COSM5712805 c.601G>T p.V201F Substitution - Missense 17:47157259-47157259 - TCGA-29-1784-01 COSM1325007 c.2126G>C p.R709T Substitution - Missense 17:47129427-47129427 - BHY COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - 2292379 COSM4609858 c.572A>C p.H191P Substitution - Missense 17:47157288-47157288 - ME020T COSM225749 c.518T>C p.L173S Substitution - Missense 17:47157342-47157342 - CRC-05T COSM4268108 c.169G>A p.A57T Substitution - Missense 17:47171999-47171999 - 2217533 COSM391535 c.1361delT p.L454fs*9 Deletion - Frameshift 17:47142246-47142246 - RK128_C01 COSM3742284 c.1013A>G p.N338S Substitution - Missense 17:47151863-47151863 - PTC-10C COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - sysucc-1028T COSM4593711 c.1873C>T p.R625* Substitution - Nonsense 17:47137192-47137192 - CRC-22T COSM5453102 c.513A>C p.T171T Substitution - coding silent 17:47157347-47157347 - PTC_212 COSM1130261 c.513A>G p.T171T Substitution - coding silent 17:47157347-47157347 - CRC-22T COSM5453100 c.517T>C p.L173L Substitution - coding silent 17:47157343-47157343 - Detroit_562 COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - PTC-7C COSM4130204 c.1749T>C p.H583H Substitution - coding silent 17:47137316-47137316 - WSU-HN8 COSM4268098 c.689C>A p.S230Y Substitution - Missense 17:47157066-47157066 - UM-SCC-17B COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - CN-AML-CR-25-Dx COSM4598167 c.1827T>A p.H609Q Substitution - Missense 17:47137238-47137238 - PTC-77C COSM4130206 c.1732A>G p.S578G Substitution - Missense 17:47137333-47137333 - WSU-HN8 COSM4130280 c.581C>G p.S194C Substitution - Missense 17:47157279-47157279 - CPCG0103-P7 COSM1130267 c.754T>A p.S252T Substitution - Missense 17:47157001-47157001 - UM-SCC-47 COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - TCGA-AA-3811-01 COSM293725 c.182T>A p.L61* Substitution - Nonsense 17:47171986-47171986 - T2458 COSM111559 c.271delA p.I91fs*54 Deletion - Frameshift 17:47170023-47170023 - LUAD-UF7HM COSM347710 c.1744G>A p.E582K Substitution - Missense 17:47137321-47137321 - TCGA-EE-A180-06 COSM3518455 c.755C>T p.S252F Substitution - Missense 17:47157000-47157000 - T3479 COSM3932631 c.1611G>A p.E537E Substitution - coding silent 17:47138832-47138832 - CN-AML-NR-08-Dx COSM4130266 c.691T>C p.S231P Substitution - Missense 17:47157064-47157064 - PTC-14C COSM3787352 c.279T>C p.S93S Substitution - coding silent 17:47170015-47170015 - 8013930 COSM3932633 c.1460T>C p.I487T Substitution - Missense 17:47141944-47141944 - CML048T COSM3932633 c.1460T>C p.I487T Substitution - Missense 17:47141944-47141944 - TCGA-EE-A29M-06 COSM3889788 c.743G>A p.G248E Substitution - Missense 17:47157012-47157012 - BHY COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - BK0090 COSM4188746 c.520C>G p.Q174E Substitution - Missense 17:47157340-47157340 - BD113T COSM4593643 c.569A>G p.N190S Substitution - Missense 17:47157291-47157291 - TCGA-EE-A3J7-06 COSM3889786 c.797G>A p.R266Q Substitution - Missense 17:47156958-47156958 - CAL27 COSM4130280 c.581C>G p.S194C Substitution - Missense 17:47157279-47157279 - CAL33 COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - CRC-05T COSM394663 c.218A>G p.Y73C Substitution - Missense 17:47171950-47171950 - RK126_C01 COSM1630232 c.1468C>T p.H490Y Substitution - Missense 17:47141936-47141936 - U343 COSM5712809 c.563T>G p.V188G Substitution - Missense 17:47157297-47157297 - Sample_1 COSM41553 c.1647T>G p.D549E Substitution - Missense 17:47138796-47138796 - PTC-7C COSM4130224 c.1471C>T p.L491L Substitution - coding silent 17:47141933-47141933 - PTC-70C COSM4130246 c.1146T>G p.F382L Substitution - Missense 17:47143907-47143907 - CRC-05T COSM4268066 c.1788T>G p.V596V Substitution - coding silent 17:47137277-47137277 - SJRHB048 COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - TCGA-AD-6965-01 COSM1383893 c.73G>T p.V25F Substitution - Missense 17:47181592-47181592 - PTC-7C COSM472932 c.600A>C p.T200T Substitution - coding silent 17:47157260-47157260 - UM-SCC-4 COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - TCGA-DS-A1OC-01 COSM1293680 c.1684A>T p.M562L Substitution - Missense 17:47138759-47138759 - RH18C COSM2696276 c.617C>T p.P206L Substitution - Missense 17:47157243-47157243 - SWE-43 COSM1130264 c.735C>A p.V245V Substitution - coding silent 17:47157020-47157020 - TCGA-G9-6332-01 COSM1130254 c.337T>A p.S113T Substitution - Missense 17:47169957-47169957 - CN-AML-CR-29-Dx COSM3755613 c.1788T>A p.V596V Substitution - coding silent 17:47137277-47137277 - PTC-77C COSM4130312 c.17A>G p.E6G Substitution - Missense 17:47189156-47189156 - PTC-10C COSM4130204 c.1749T>C p.H583H Substitution - coding silent 17:47137316-47137316 - CRC-25T COSM4130254 c.823C>G p.L275V Substitution - Missense 17:47156932-47156932 - PTC-46C COSM4130262 c.705T>C p.I235I Substitution - coding silent 17:47157050-47157050 - T3498 COSM4670671 c.165T>C p.Y55Y Substitution - coding silent 17:47172003-47172003 - B105-Tumor COSM3932645 c.1221A>G p.R407R Substitution - coding silent 17:47142386-47142386 - BICR_22 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - TCGA-FS-A1ZW-06 COSM3518449 c.938C>T p.T313I Substitution - Missense 17:47154691-47154691 - PTC-10C COSM4130288 c.449C>G p.S150C Substitution - Missense 17:47158232-47158232 - TCGA-F4-6809-01 COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - 2250201 COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - PTC-28C COSM4130220 c.1494T>C p.T498T Substitution - coding silent 17:47141910-47141910 - PTC-46C COSM4130226 c.1438A>C p.N480H Substitution - Missense 17:47141966-47141966 - PTC-10C COSM4130234 c.1263T>G p.P421P Substitution - coding silent 17:47142344-47142344 - LUAD-QY22Z COSM394663 c.218A>G p.Y73C Substitution - Missense 17:47171950-47171950 - 2367455 COSM253166 c.1694A>T p.N565I Substitution - Missense 17:47138749-47138749 - CN-AML-NR-07-Dx COSM4386180 c.796C>T p.R266* Substitution - Nonsense 17:47156959-47156959 - PTC_33 COSM3819803 c.724C>T p.P242S Substitution - Missense 17:47157031-47157031 - Detroit_562 COSM4130284 c.516T>G p.S172S Substitution - coding silent 17:47157344-47157344 - TCGA-D3-A2JH-06 COSM1493950 c.658T>G p.S220A Substitution - Missense 17:47157097-47157097 - UM-SCC-17B COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - T98G COSM1563799 c.1808C>T p.A603V Substitution - Missense 17:47137257-47137257 - WSU-HN6 COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - UD-SCC-2 COSM4593643 c.569A>G p.N190S Substitution - Missense 17:47157291-47157291 - PT54 COSM5937715 c.293A>G p.N98S Substitution - Missense 17:47170001-47170001 - BHY COSM4130266 c.691T>C p.S231P Substitution - Missense 17:47157064-47157064 - TCGA-BH-A0E7-01 COSM436752 c.1531G>A p.E511K Substitution - Missense 17:47141873-47141873 - UPCI:SCC090 COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - CAL33 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - LN229 COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - PTC-88C COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - WSU-HN30 COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - TCGA-EK-A2PG-01 COSM4819338 c.1884C>G p.I628M Substitution - Missense 17:47137181-47137181 - C662 COSM4443654 c.389G>A p.R130Q Substitution - Missense 17:47158292-47158292 - B105-Tumor COSM3932633 c.1460T>C p.I487T Substitution - Missense 17:47141944-47141944 - QC2-30-T2 COSM1130267 c.754T>A p.S252T Substitution - Missense 17:47157001-47157001 - CPCG0259-F1 COSM4880012 c.2431G>A p.A811T Substitution - Missense 17:47120979-47120979 - sysucc-1028T COSM1179255 c.1867T>A p.C623S Substitution - Missense 17:47137198-47137198 - sysucc-311T COSM2696208 c.1874G>A p.R625Q Substitution - Missense 17:47137191-47137191 - B80-3-Tumor COSM3932631 c.1611G>A p.E537E Substitution - coding silent 17:47138832-47138832 - CAL27 COSM4593711 c.1873C>T p.R625* Substitution - Nonsense 17:47137192-47137192 - LUAD-YINHD COSM349353 c.1529T>G p.F510C Substitution - Missense 17:47141875-47141875 - LN229 COSM1200357 c.1903T>A p.Y635N Substitution - Missense 17:47137162-47137162 - TCGA-B0-5098-01 COSM1493950 c.658T>G p.S220A Substitution - Missense 17:47157097-47157097 - B101-Tumor COSM3932629 c.2467G>A p.E823K Substitution - Missense 17:47120943-47120943 - pfg213T COSM1610396 c.1406T>G p.M469R Substitution - Missense 17:47141998-47141998 - PTC-54C COSM3755613 c.1788T>A p.V596V Substitution - coding silent 17:47137277-47137277 - PTC_303 COSM1130251 c.332G>A p.G111D Substitution - Missense 17:47169962-47169962 - T98G COSM4609858 c.572A>C p.H191P Substitution - Missense 17:47157288-47157288 - T24 COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - PTC-7C COSM4130266 c.691T>C p.S231P Substitution - Missense 17:47157064-47157064 - TCGA-14-1037 COSM2155332 c.1102A>G p.T368A Substitution - Missense 17:47143951-47143951 - PCSI0044 COSM1158520 c.947delC p.P316fs*27 Deletion - Frameshift 17:47154682-47154682 - UM-SCC-11B COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - PTC-53C COSM4130306 c.126T>C p.F42F Substitution - coding silent 17:47172042-47172042 - PTC-77C COSM4130310 c.77T>C p.F26S Substitution - Missense 17:47181588-47181588 - LN229 COSM5712811 c.561A>T p.Q187H Substitution - Missense 17:47157299-47157299 - WSU-HN6 COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - PTC_235 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - PTC-28C COSM3932649 c.298C>T p.Q100* Substitution - Nonsense 17:47169996-47169996 - PTC-7C COSM4130206 c.1732A>G p.S578G Substitution - Missense 17:47137333-47137333 - PTC_171 COSM293444 c.501A>G p.T167T Substitution - coding silent 17:47157359-47157359 - HCC2218 COSM22071 c.809G>C p.G270A Substitution - Missense 17:47156946-47156946 - S00945 COSM309976 c.1322A>T p.K441I Substitution - Missense 17:47142285-47142285 - TCGA-CW-5588-01 COSM472924 c.1969C>T p.H657Y Substitution - Missense 17:47132319-47132319 - PTC-14C COSM4130282 c.553A>G p.T185A Substitution - Missense 17:47157307-47157307 - PTC-10C COSM4130206 c.1732A>G p.S578G Substitution - Missense 17:47137333-47137333 - TCGA-AK-3461-01 COSM115723 c.1649T>G p.V550G Substitution - Missense 17:47138794-47138794 - SCC-25 COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - UM-SCC-4 COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - CRC-22T COSM5453096 c.541C>T p.P181S Substitution - Missense 17:47157319-47157319 - TCGA-A5-A0GP-01 COSM980366 c.1846G>T p.E616* Substitution - Nonsense 17:47137219-47137219 - sysucc-1484T COSM4130186 c.1904A>G p.Y635C Substitution - Missense 17:47137161-47137161 - CAL27 COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - PTC-10C COSM4130294 c.412T>G p.Y138D Substitution - Missense 17:47158269-47158269 - ORL-48 COSM4593643 c.569A>G p.N190S Substitution - Missense 17:47157291-47157291 - UPCI:SCC090 COSM4130280 c.581C>G p.S194C Substitution - Missense 17:47157279-47157279 - TCGA-BR-8487-01 COSM1521347 c.1487A>G p.Y496C Substitution - Missense 17:47141917-47141917 - ESCC_96 COSM4130248 c.1121T>C p.L374P Substitution - Missense 17:47143932-47143932 - T98G COSM5712807 c.568A>C p.N190H Substitution - Missense 17:47157292-47157292 - LUAD-S00484 COSM342864 c.775C>T p.Q259* Substitution - Nonsense 17:47156980-47156980 - ORL-48 COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - TCGA-AA-3510-01 COSM1383891 c.141T>C p.C47C Substitution - coding silent 17:47172027-47172027 - D-03 COSM4130256 c.790A>C p.T264P Substitution - Missense 17:47156965-47156965 - Pat_70_B COSM5852768 c.1415delG p.G472fs*3 Deletion - Frameshift 17:47141989-47141989 - PTC-7C COSM4130278 c.594T>C p.P198P Substitution - coding silent 17:47157266-47157266 - PTC-28C COSM1521347 c.1487A>G p.Y496C Substitution - Missense 17:47141917-47141917 - QC2-26-T2 COSM5653066 c.499A>T p.T167S Substitution - Missense 17:47157361-47157361 - B112-Tumor COSM3932635 c.1304C>T p.S435F Substitution - Missense 17:47142303-47142303 - UM-SCC-11B COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - BHY COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - 47 COSM4593643 c.569A>G p.N190S Substitution - Missense 17:47157291-47157291 - CAL27 COSM4593643 c.569A>G p.N190S Substitution - Missense 17:47157291-47157291 - Detroit_562 COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - CN-AML-08-T COSM4130266 c.691T>C p.S231P Substitution - Missense 17:47157064-47157064 - PR-06-1749 COSM243575 c.375T>C p.Y125Y Substitution - coding silent 17:47169919-47169919 - U373 COSM394663 c.218A>G p.Y73C Substitution - Missense 17:47171950-47171950 - SCC-9 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - 73 COSM5013187 c.1543T>C p.Y515H Substitution - Missense 17:47141861-47141861 - LN18 COSM1563799 c.1808C>T p.A603V Substitution - Missense 17:47137257-47137257 - sysucc-1213T COSM5764328 c.1014T>G p.N338K Substitution - Missense 17:47151862-47151862 - UD-SCC-2 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - CN-AML-CR-29-Dx COSM4130204 c.1749T>C p.H583H Substitution - coding silent 17:47137316-47137316 - PTC-10C COSM4130314 c.4A>G p.T2A Substitution - Missense 17:47189169-47189169 - ME012T COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - WSU-HN8 COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - CRC-25T COSM5453162 c.1913+8G>C p.? Unknown 17:47137144-47137144 - SCC-15 COSM4130280 c.581C>G p.S194C Substitution - Missense 17:47157279-47157279 - UPCI:SCC090 COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - TCGA-G9-6364-01 COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - PTC_169 COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - Detroit_562 COSM3819801 c.1746A>G p.E582E Substitution - coding silent 17:47137319-47137319 - UM-SCC-11B COSM4130280 c.581C>G p.S194C Substitution - Missense 17:47157279-47157279 - CN-AML-16-T COSM222498 c.794G>A p.G265D Substitution - Missense 17:47156961-47156961 - KPOPBR-30-T COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - HX16T COSM1610396 c.1406T>G p.M469R Substitution - Missense 17:47141998-47141998 - TCGA-D8-A1J8-01 COSM3819799 c.1884C>T p.I628I Substitution - coding silent 17:47137181-47137181 - UM-SCC-2 COSM4130186 c.1904A>G p.Y635C Substitution - Missense 17:47137161-47137161 - PTC-7C COSM41553 c.1647T>G p.D549E Substitution - Missense 17:47138796-47138796 - PTC-88C COSM4130288 c.449C>G p.S150C Substitution - Missense 17:47158232-47158232 - CRC-25T COSM287919 c.1593T>C p.Y531Y Substitution - coding silent 17:47138850-47138850 - TCGA-B5-A11E-01 COSM980382 c.1084G>A p.V362I Substitution - Missense 17:47143969-47143969 - PTC-7C COSM4130294 c.412T>G p.Y138D Substitution - Missense 17:47158269-47158269 - CAL27 COSM4268098 c.689C>A p.S230Y Substitution - Missense 17:47157066-47157066 - UM-SCC-11B COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - CRC-22T COSM5453106 c.505A>T p.K169* Substitution - Nonsense 17:47157355-47157355 - CPCG0259-F1 COSM4880028 c.2432C>T p.A811V Substitution - Missense 17:47120978-47120978 - UD-SCC-2 COSM4130280 c.581C>G p.S194C Substitution - Missense 17:47157279-47157279 - 526LT COSM1130273 c.820G>T p.A274S Substitution - Missense 17:47156935-47156935 - HCC50T COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - TCGA-22-1012-01 COSM706047 c.903C>T p.Y301Y Substitution - coding silent 17:47154726-47154726 - PTC-10C COSM4130194 c.1798T>G p.Y600D Substitution - Missense 17:47137267-47137267 - PTC-1C COSM4130246 c.1146T>G p.F382L Substitution - Missense 17:47143907-47143907 - T9 COSM1130251 c.332G>A p.G111D Substitution - Missense 17:47169962-47169962 - TCGA-06-2562 COSM2152788 c.1179_1181delCAA p.S393_K394>R Complex - deletion inframe 17:47142426-47142428 - TCGA-G9-6332-01 COSM1130248 c.327G>T p.E109D Substitution - Missense 17:47169967-47169967 - UM-SCC-47 COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - Sample_1 COSM4130216 c.1637T>C p.L546P Substitution - Missense 17:47138806-47138806 - SCC-9 COSM4593643 c.569A>G p.N190S Substitution - Missense 17:47157291-47157291 - PT24_2 COSM1200357 c.1903T>A p.Y635N Substitution - Missense 17:47137162-47137162 - T28 COSM1130251 c.332G>A p.G111D Substitution - Missense 17:47169962-47169962 - TCGA-G9-6373-01 COSM1130251 c.332G>A p.G111D Substitution - Missense 17:47169962-47169962 - HCC2218 COSM22071 c.809G>C p.G270A Substitution - Missense 17:47156946-47156946 - BHY COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - HX31T COSM3717424 c.2012T>G p.L671* Substitution - Nonsense 17:47132276-47132276 - TCGA-BR-8363-01 COSM3819807 c.388C>T p.R130W Substitution - Missense 17:47158293-47158293 - UM-SCC-11B COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - U373 COSM472932 c.600A>C p.T200T Substitution - coding silent 17:47157260-47157260 - TCGA-AA-3561-01 COSM292500 c.1515T>C p.I505I Substitution - coding silent 17:47141889-47141889 - SJHGG063_A COSM2696276 c.617C>T p.P206L Substitution - Missense 17:47157243-47157243 - sysucc-918T COSM1179255 c.1867T>A p.C623S Substitution - Missense 17:47137198-47137198 - NCI-H727 COSM2696237 c.1469A>G p.H490R Substitution - Missense 17:47141935-47141935 - WSU-HN8 COSM4593711 c.1873C>T p.R625* Substitution - Nonsense 17:47137192-47137192 - LN229 COSM472932 c.600A>C p.T200T Substitution - coding silent 17:47157260-47157260 - TCGA-AN-A046-01 COSM169133 c.2206G>T p.E736* Substitution - Nonsense 17:47123915-47123915 - STC263 COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - PTC_241 COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - PTC-10C COSM4130292 c.427A>C p.S143R Substitution - Missense 17:47158254-47158254 - WSU-HN13 COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - U343 COSM394663 c.218A>G p.Y73C Substitution - Missense 17:47171950-47171950 - P100 COSM5009293 c.1566C>A p.F522L Substitution - Missense 17:47138877-47138877 - CN-AML-27-T COSM3819803 c.724C>T p.P242S Substitution - Missense 17:47157031-47157031 - CHC1756T COSM306933 c.60T>C p.A20A Substitution - coding silent 17:47181605-47181605 - sysucc-826T COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - TCGA-FS-A4F0-06 COSM3518459 c.27G>A p.Q9Q Substitution - coding silent 17:47189146-47189146 - HCC155T COSM4268098 c.689C>A p.S230Y Substitution - Missense 17:47157066-47157066 - 4132_T COSM3958465 c.1882A>G p.I628V Substitution - Missense 17:47137183-47137183 - U87 COSM394663 c.218A>G p.Y73C Substitution - Missense 17:47171950-47171950 - TCGA-D3-A3MO-06 COSM1130257 c.477T>G p.G159G Substitution - coding silent 17:47157383-47157383 - SWE-13 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - BD209T COSM4130224 c.1471C>T p.L491L Substitution - coding silent 17:47141933-47141933 - B80-0-Tumor COSM3932647 c.1213C>T p.P405S Substitution - Missense 17:47142394-47142394 - TCGA-EE-A2GH-06 COSM3518443 c.2214C>T p.L738L Substitution - coding silent 17:47123907-47123907 - WSU-HN12 COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - UD-SCC-2 COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - HCC139T COSM1610398 c.552_553insGCC p.C184_T185insA Insertion - In frame 17:47157307-47157308 - 1_RESISTANT COSM1721174 c.1750G>A p.D584N Substitution - Missense 17:47137315-47137315 - NB-0462 COSM1284028 c.174T>A p.Y58* Substitution - Nonsense 17:47171994-47171994 - WSU-HN8 COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - UM-SCC-2 COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - PTC_33 COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - 9399_PT COSM5755061 c.1379A>C p.E460A Substitution - Missense 17:47142025-47142025 - BHY COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - 93VU147T COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - ICGC_MB20 COSM306937 c.1849T>C p.L617L Substitution - coding silent 17:47137216-47137216 - T3479 COSM2696219 c.1599T>G p.V533V Substitution - coding silent 17:47138844-47138844 - LN18 COSM1179255 c.1867T>A p.C623S Substitution - Missense 17:47137198-47137198 - WSU-HN12 COSM4593643 c.569A>G p.N190S Substitution - Missense 17:47157291-47157291 - TCGA-18-3411-01 COSM706051 c.1504C>T p.L502L Substitution - coding silent 17:47141900-47141900 - CPCG0103-P6 COSM304850 c.1133G>A p.S378N Substitution - Missense 17:47143920-47143920 - STC243 COSM222498 c.794G>A p.G265D Substitution - Missense 17:47156961-47156961 - CAL27 COSM3755615 c.1741C>T p.R581W Substitution - Missense 17:47137324-47137324 - PTC-7C COSM4130290 c.431T>G p.L144* Substitution - Nonsense 17:47158250-47158250 - CAL33 COSM4593643 c.569A>G p.N190S Substitution - Missense 17:47157291-47157291 - C391 COSM4441677 c.292A>C p.N98H Substitution - Missense 17:47170002-47170002 - U343 COSM5712811 c.561A>T p.Q187H Substitution - Missense 17:47157299-47157299 - CN-AML-NR-31-Dx COSM222498 c.794G>A p.G265D Substitution - Missense 17:47156961-47156961 - WSU-HN13 COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - NOKSI COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - TCGA-ER-A2NF-06 COSM3518453 c.798A>G p.R266R Substitution - coding silent 17:47156957-47156957 - BICR_22 COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - UM-SCC-4 COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - PTC-1C COSM4130260 c.761T>G p.L254* Substitution - Nonsense 17:47156994-47156994 - CRC-05T COSM4130310 c.77T>C p.F26S Substitution - Missense 17:47181588-47181588 - BHY COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - 46M COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - PTC-10C COSM4130252 c.981T>C p.T327T Substitution - coding silent 17:47151895-47151895 - ORL-48 COSM4130280 c.581C>G p.S194C Substitution - Missense 17:47157279-47157279 - PD7399a COSM3720170 c.939C>G p.T313T Substitution - coding silent 17:47154690-47154690 - TCGA-DI-A0WH-01 COSM980394 c.364G>T p.G122* Substitution - Nonsense 17:47169930-47169930 - PTC-7C COSM4130260 c.761T>G p.L254* Substitution - Nonsense 17:47156994-47156994 - PTC-14C COSM4130262 c.705T>C p.I235I Substitution - coding silent 17:47157050-47157050 - UPCI:SCC090 COSM4593643 c.569A>G p.N190S Substitution - Missense 17:47157291-47157291 - PT50 COSM5937715 c.293A>G p.N98S Substitution - Missense 17:47170001-47170001 - WSU-HN8 COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - PTC-7C COSM306935 c.1887A>G p.R629R Substitution - coding silent 17:47137178-47137178 - CN-AML-22-T COSM1130270 c.771G>A p.Q257Q Substitution - coding silent 17:47156984-47156984 - CRC-25T COSM4130188 c.1839A>C p.L613F Substitution - Missense 17:47137226-47137226 - CRC-25T COSM287917 c.1599T>C p.V533V Substitution - coding silent 17:47138844-47138844 - TCGA-AN-A046-01 COSM3819807 c.388C>T p.R130W Substitution - Missense 17:47158293-47158293 - PTC-28C COSM4130250 c.1116C>T p.N372N Substitution - coding silent 17:47143937-47143937 - NOKSI COSM4593643 c.569A>G p.N190S Substitution - Missense 17:47157291-47157291 - Patient_1 COSM4598167 c.1827T>A p.H609Q Substitution - Missense 17:47137238-47137238 - T98G COSM472932 c.600A>C p.T200T Substitution - coding silent 17:47157260-47157260 - WSU-HN6 COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - CPCG0103-P4 COSM1130267 c.754T>A p.S252T Substitution - Missense 17:47157001-47157001 - 8068585 COSM279744 c.2344C>T p.R782C Substitution - Missense 17:47122492-47122492 - 8015277 COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - PTC-53C COSM3755615 c.1741C>T p.R581W Substitution - Missense 17:47137324-47137324 - 2292379 COSM4130196 c.1783C>G p.Q595E Substitution - Missense 17:47137282-47137282 - 2292382 COSM4610158 c.1387A>C p.M463L Substitution - Missense 17:47142017-47142017 - CRC-23T COSM306935 c.1887A>G p.R629R Substitution - coding silent 17:47137178-47137178 - RK091_C01 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - CHC2211T COSM306933 c.60T>C p.A20A Substitution - coding silent 17:47181605-47181605 - 2217540 COSM391535 c.1361delT p.L454fs*9 Deletion - Frameshift 17:47142246-47142246 - PTC-77C COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - CN-AML-CR-4-Dx COSM4598167 c.1827T>A p.H609Q Substitution - Missense 17:47137238-47137238 - CS04 COSM4130272 c.640A>G p.R214G Substitution - Missense 17:47157115-47157115 - UM-SCC-47 COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - PD3851a COSM219156 c.1999C>T p.Q667* Substitution - Nonsense 17:47132289-47132289 - Patient_3_Relapse COSM4386180 c.796C>T p.R266* Substitution - Nonsense 17:47156959-47156959 - PS-286-3D COSM4386180 c.796C>T p.R266* Substitution - Nonsense 17:47156959-47156959 - 226 COSM1130251 c.332G>A p.G111D Substitution - Missense 17:47169962-47169962 - LN229 COSM5712807 c.568A>C p.N190H Substitution - Missense 17:47157292-47157292 - YUWIA COSM1302940 c.2282C>T p.S761F Substitution - Missense 17:47122554-47122554 - CRC-6 COSM304850 c.1133G>A p.S378N Substitution - Missense 17:47143920-47143920 - UM-SCC-2 COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - LUAD-D02185 COSM391535 c.1361delT p.L454fs*9 Deletion - Frameshift 17:47142246-47142246 - PTC-14C COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - 93VU147T COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - UM-SCC-4 COSM4268098 c.689C>A p.S230Y Substitution - Missense 17:47157066-47157066 - CN-AML-CR-23-Dx COSM4593643 c.569A>G p.N190S Substitution - Missense 17:47157291-47157291 - PTC_248 COSM5958017 c.554_555insCGC p.T185_T186insA Insertion - In frame 17:47157305-47157306 - U373 COSM5712805 c.601G>T p.V201F Substitution - Missense 17:47157259-47157259 - UM-SCC-17B COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - PTC-10C COSM4130198 c.1780A>C p.I594L Substitution - Missense 17:47137285-47137285 - TCGA-EI-6510-01 COSM5825981 c.1071-3delT p.? Unknown 17:47143985-47143985 - TCGA-13-0919-01 COSM41553 c.1647T>G p.D549E Substitution - Missense 17:47138796-47138796 - PT23_2 COSM1166693 c.1319G>A p.G440E Substitution - Missense 17:47142288-47142288 - CAL27 COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - CRC-22T COSM5453104 c.506A>G p.K169R Substitution - Missense 17:47157354-47157354 - PTC-10C COSM4130214 c.1640A>C p.Q547P Substitution - Missense 17:47138803-47138803 - WSU-HN30 COSM4130280 c.581C>G p.S194C Substitution - Missense 17:47157279-47157279 - WSU-HN8 COSM4130186 c.1904A>G p.Y635C Substitution - Missense 17:47137161-47137161 - T98G COSM1563797 c.1770C>T p.F590F Substitution - coding silent 17:47137295-47137295 - RC-3 COSM328617 c.1287T>A p.I429I Substitution - coding silent 17:47142320-47142320 - RC-T COSM328617 c.1287T>A p.I429I Substitution - coding silent 17:47142320-47142320 - UM-SCC-17B COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - TCGA-EE-A2MS-06 COSM3518445 c.1420T>G p.L474V Substitution - Missense 17:47141984-47141984 - PTC-88C COSM4130282 c.553A>G p.T185A Substitution - Missense 17:47157307-47157307 - PTC-88C COSM306935 c.1887A>G p.R629R Substitution - coding silent 17:47137178-47137178 - CAL27 COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - PTC-54C COSM4130244 c.1168A>G p.K390E Substitution - Missense 17:47143885-47143885 - LUAD-U6SJ7 COSM400182 c.1659A>G p.S553S Substitution - coding silent 17:47138784-47138784 - RC-11 COSM328617 c.1287T>A p.I429I Substitution - coding silent 17:47142320-47142320 - ACINAR28 COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - TCGA-18-3409-01 COSM706041 c.71C>A p.A24E Substitution - Missense 17:47181594-47181594 - PTC-53C COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - sysucc-692T COSM4188746 c.520C>G p.Q174E Substitution - Missense 17:47157340-47157340 - PTC-46C COSM3932639 c.1275T>C p.D425D Substitution - coding silent 17:47142332-47142332 - TCGA-EE-A2GO-06 COSM3518451 c.817G>A p.A273T Substitution - Missense 17:47156938-47156938 - 4_RESISTANT COSM1724488 c.128delT p.L43fs*19 Deletion - Frameshift 17:47172040-47172040 - PTC-14C COSM41553 c.1647T>G p.D549E Substitution - Missense 17:47138796-47138796 - TCGA-41-3393-01 COSM3402957 c.308A>G p.H103R Substitution - Missense 17:47169986-47169986 - PTC-14C COSM4130218 c.1544A>C p.Y515S Substitution - Missense 17:47141860-47141860 - ODG10 COSM4130278 c.594T>C p.P198P Substitution - coding silent 17:47157266-47157266 - PCA25-1 COSM4386180 c.796C>T p.R266* Substitution - Nonsense 17:47156959-47156959 - WSU-HN8 COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - WSU-HN8 COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - TCGA-ER-A3EV-06 COSM1179255 c.1867T>A p.C623S Substitution - Missense 17:47137198-47137198 - PTC-1C COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - PTC-10C COSM4130184 c.1908T>G p.N636K Substitution - Missense 17:47137157-47137157 - Single_Sample COSM4130262 c.705T>C p.I235I Substitution - coding silent 17:47157050-47157050 - UM-SCC-4 COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - ORL-48 COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - PTC-7C COSM306937 c.1849T>C p.L617L Substitution - coding silent 17:47137216-47137216 - T98G COSM394663 c.218A>G p.Y73C Substitution - Missense 17:47171950-47171950 - TCGA-AA-A01Q-01 COSM41553 c.1647T>G p.D549E Substitution - Missense 17:47138796-47138796 - ESCC_BICR_031T COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - TCGA-AR-A24L-01 COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - PT32 COSM3755615 c.1741C>T p.R581W Substitution - Missense 17:47137324-47137324 - PTC-73C COSM4130256 c.790A>C p.T264P Substitution - Missense 17:47156965-47156965 - UM-SCC-2 COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - PTC-1C COSM4130206 c.1732A>G p.S578G Substitution - Missense 17:47137333-47137333 - CRC-25T COSM5453164 c.1578A>G p.R526R Substitution - coding silent 17:47138865-47138865 - PTC-10C COSM4130232 c.1271A>G p.N424S Substitution - Missense 17:47142336-47142336 - UM-SCC-4 COSM4130186 c.1904A>G p.Y635C Substitution - Missense 17:47137161-47137161 - U343 COSM5712807 c.568A>C p.N190H Substitution - Missense 17:47157292-47157292 - TCGA-AG-3586-01 COSM287917 c.1599T>C p.V533V Substitution - coding silent 17:47138844-47138844 - ME016T COSM225053 c.2434G>A p.D812N Substitution - Missense 17:47120976-47120976 - CRC-20T COSM4130262 c.705T>C p.I235I Substitution - coding silent 17:47157050-47157050 - PT55 COSM4268106 c.199A>C p.T67P Substitution - Missense 17:47171969-47171969 - PTC-10C COSM4130196 c.1783C>G p.Q595E Substitution - Missense 17:47137282-47137282 - TCGA-G9-6332-01 COSM1130261 c.513A>G p.T171T Substitution - coding silent 17:47157347-47157347 - PTC-10C COSM436752 c.1531G>A p.E511K Substitution - Missense 17:47141873-47141873 - CRC-05T COSM436752 c.1531G>A p.E511K Substitution - Missense 17:47141873-47141873 - 2292379 COSM4130198 c.1780A>C p.I594L Substitution - Missense 17:47137285-47137285 - RC-2 COSM328615 c.1358A>G p.N453S Substitution - Missense 17:47142249-47142249 - TCGA-13-0726-01 COSM69321 c.1170+2T>C p.? Unknown 17:47143881-47143881 - HT115 COSM2696192 c.2274G>T p.M758I Substitution - Missense 17:47122562-47122562 - UM-SCC-4 COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - PTC-1C COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - TCGA-EE-A3AB-06 COSM3518457 c.726T>A p.P242P Substitution - coding silent 17:47157029-47157029 - ORL-48 COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - PTC-10C COSM4130306 c.126T>C p.F42F Substitution - coding silent 17:47172042-47172042 - CAL27 COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - 2292380 COSM4609858 c.572A>C p.H191P Substitution - Missense 17:47157288-47157288 - PTC-46C COSM1179255 c.1867T>A p.C623S Substitution - Missense 17:47137198-47137198 - SWE-27 COSM1179255 c.1867T>A p.C623S Substitution - Missense 17:47137198-47137198 - UPCI:SCC090 COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - CAL33 COSM4130280 c.581C>G p.S194C Substitution - Missense 17:47157279-47157279 - LN18 COSM5712801 c.1900C>T p.H634Y Substitution - Missense 17:47137165-47137165 - PTC_279 COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - PTC-7C COSM4130268 c.687T>C p.D229D Substitution - coding silent 17:47157068-47157068 - CN-AML-NR-16-Dx COSM222498 c.794G>A p.G265D Substitution - Missense 17:47156961-47156961 - TCGA-G9-6332-01 COSM1130267 c.754T>A p.S252T Substitution - Missense 17:47157001-47157001 - TCGA-LP-A4AX-01 COSM3819803 c.724C>T p.P242S Substitution - Missense 17:47157031-47157031 - CAL27 COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - SJRHB033 COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - NCI-H128 COSM22070 c.1811A>G p.Y604C Substitution - Missense 17:47137254-47137254 - sysucc-882T COSM1179255 c.1867T>A p.C623S Substitution - Missense 17:47137198-47137198 - U373 COSM1179255 c.1867T>A p.C623S Substitution - Missense 17:47137198-47137198 - 587342 COSM1200359 c.2074C>A p.L692I Substitution - Missense 17:47129479-47129479 - WSU-HN8 COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - NOKSI COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - I2L-P10-Tumor-Organoid COSM5363930 c.534C>T p.N178N Substitution - coding silent 17:47157326-47157326 - PTC-7C COSM4130270 c.644T>G p.L215W Substitution - Missense 17:47157111-47157111 - S01502 COSM253166 c.1694A>T p.N565I Substitution - Missense 17:47138749-47138749 - WSU-HN12 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - RC-13 COSM328615 c.1358A>G p.N453S Substitution - Missense 17:47142249-47142249 - PD4937a COSM159871 c.2230G>A p.G744R Substitution - Missense 17:47123891-47123891 - ME001T COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - BD63T COSM1383887 c.672C>T p.Y224Y Substitution - coding silent 17:47157083-47157083 - PT55 COSM1166711 c.206C>T p.P69L Substitution - Missense 17:47171962-47171962 - UD-SCC-2 COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - UM-SCC-17B COSM4593643 c.569A>G p.N190S Substitution - Missense 17:47157291-47157291 - CPCG0103-P4 COSM1200357 c.1903T>A p.Y635N Substitution - Missense 17:47137162-47137162 - TCGA-AA-3696-01 COSM293444 c.501A>G p.T167T Substitution - coding silent 17:47157359-47157359 - UM-SCC-47 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - T31 COSM3819803 c.724C>T p.P242S Substitution - Missense 17:47157031-47157031 - WSU-HN13 COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - PT51 COSM5937715 c.293A>G p.N98S Substitution - Missense 17:47170001-47170001 - TCGA-ER-A19E-06 COSM3889790 c.512C>A p.T171K Substitution - Missense 17:47157348-47157348 - PT26 COSM1130267 c.754T>A p.S252T Substitution - Missense 17:47157001-47157001 - PTC-10C COSM306935 c.1887A>G p.R629R Substitution - coding silent 17:47137178-47137178 - UM-SCC-11B COSM4130186 c.1904A>G p.Y635C Substitution - Missense 17:47137161-47137161 - CN-AML-CR-40-Dx COSM4130186 c.1904A>G p.Y635C Substitution - Missense 17:47137161-47137161 - PTC-10C COSM4130228 c.1327T>G p.S443A Substitution - Missense 17:47142280-47142280 - GC_313T-GC_313N COSM4593643 c.569A>G p.N190S Substitution - Missense 17:47157291-47157291 - STC265 COSM3819803 c.724C>T p.P242S Substitution - Missense 17:47157031-47157031 - TCGA-AZ-4315-01 COSM288645 c.1697C>T p.S566L Substitution - Missense 17:47138746-47138746 - S00945 COSM309976 c.1322A>T p.K441I Substitution - Missense 17:47142285-47142285 - CN-AML-37-T COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - GC_342T_a-GC_342N COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - SCC-15 COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - T613 COSM4670668 c.609G>A p.T203T Substitution - coding silent 17:47157251-47157251 - HCC019T COSM5820396 c.2000A>C p.Q667P Substitution - Missense 17:47132288-47132288 - ICGC_MB20 COSM306935 c.1887A>G p.R629R Substitution - coding silent 17:47137178-47137178 - CAL27 COSM4130186 c.1904A>G p.Y635C Substitution - Missense 17:47137161-47137161 - MO_1012 COSM279744 c.2344C>T p.R782C Substitution - Missense 17:47122492-47122492 - B89-1-Tumor COSM3932631 c.1611G>A p.E537E Substitution - coding silent 17:47138832-47138832 - PTC-28C COSM4130222 c.1474C>G p.P492A Substitution - Missense 17:47141930-47141930 - PTC-77C COSM4130308 c.80T>C p.L27P Substitution - Missense 17:47181585-47181585 - CN-AML-27-T COSM222498 c.794G>A p.G265D Substitution - Missense 17:47156961-47156961 - C547 COSM4442412 c.253C>T p.L85F Substitution - Missense 17:47170041-47170041 - TCGA-BG-A0MS-01 COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - TCGA-D1-A0ZR-01 COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - TCGA-DS-A1OD-01 COSM1293682 c.1683_1684CA>TG p.M562V Substitution - Missense 17:47138759-47138760 - PTC-7C COSM1383887 c.672C>T p.Y224Y Substitution - coding silent 17:47157083-47157083 - sysucc-692T COSM5763793 c.524A>G p.N175S Substitution - Missense 17:47157336-47157336 - PTC-14C COSM4130202 c.1762A>C p.K588Q Substitution - Missense 17:47137303-47137303 - HX5T COSM287917 c.1599T>C p.V533V Substitution - coding silent 17:47138844-47138844 - SCC-15 COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - WSU-HN12 COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - CN-AML-CR-7-Dx COSM4598167 c.1827T>A p.H609Q Substitution - Missense 17:47137238-47137238 - TCGA-CW-5588-01 COSM472932 c.600A>C p.T200T Substitution - coding silent 17:47157260-47157260 - S0049 COSM1130273 c.820G>T p.A274S Substitution - Missense 17:47156935-47156935 - LUAD-YKER9 COSM352022 c.957G>T p.K319N Substitution - Missense 17:47154672-47154672 - SWE-43 COSM1130270 c.771G>A p.Q257Q Substitution - coding silent 17:47156984-47156984 - P117 COSM1736557 c.2266G>A p.A756T Substitution - Missense 17:47122570-47122570 - TCGA-AY-6197-01 COSM1383881 c.1210delA p.I404fs*15 Deletion - Frameshift 17:47142397-47142397 - CN-AML-16-T COSM3819803 c.724C>T p.P242S Substitution - Missense 17:47157031-47157031 - CN-AML-CR-41-Dx COSM4130192 c.1800C>T p.Y600Y Substitution - coding silent 17:47137265-47137265 - PTC-14C COSM4130216 c.1637T>C p.L546P Substitution - Missense 17:47138806-47138806 - 511 COSM5611635 c.1016G>T p.S339I Substitution - Missense 17:47151860-47151860 - GC_383T-GC_383N COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - TCGA-G9-6365-01 COSM1130264 c.735C>A p.V245V Substitution - coding silent 17:47157020-47157020 - sysucc-1028T COSM4130186 c.1904A>G p.Y635C Substitution - Missense 17:47137161-47137161 - CSCC-19-T COSM1710389 c.2054C>T p.S685L Substitution - Missense 17:47129499-47129499 - 36 COSM391535 c.1361delT p.L454fs*9 Deletion - Frameshift 17:47142246-47142246 - sysucc-936T COSM1383887 c.672C>T p.Y224Y Substitution - coding silent 17:47157083-47157083 - TCGA-CA-6718-01 COSM3755615 c.1741C>T p.R581W Substitution - Missense 17:47137324-47137324 - SCC-9 COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - PTC-14C COSM4130238 c.1227A>C p.T409T Substitution - coding silent 17:47142380-47142380 - WSU-HN8 COSM4593643 c.569A>G p.N190S Substitution - Missense 17:47157291-47157291 - BICR_22 COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - UPCI:SCC090 COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - WSU-HN8 COSM4598167 c.1827T>A p.H609Q Substitution - Missense 17:47137238-47137238 - U373 COSM1200357 c.1903T>A p.Y635N Substitution - Missense 17:47137162-47137162 - 413T COSM222498 c.794G>A p.G265D Substitution - Missense 17:47156961-47156961 - CS04 COSM4130270 c.644T>G p.L215W Substitution - Missense 17:47157111-47157111 - YUKAT COSM5386537 c.1134T>C p.S378S Substitution - coding silent 17:47143919-47143919 - WSU-HN30 COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - CN-AML-CR-46-Dx COSM1383887 c.672C>T p.Y224Y Substitution - coding silent 17:47157083-47157083 - PTC-7C COSM304850 c.1133G>A p.S378N Substitution - Missense 17:47143920-47143920 - PT13 COSM115723 c.1649T>G p.V550G Substitution - Missense 17:47138794-47138794 - 413LT COSM222498 c.794G>A p.G265D Substitution - Missense 17:47156961-47156961 - TCGA-AA-3555-01 COSM41553 c.1647T>G p.D549E Substitution - Missense 17:47138796-47138796 - CN-AML-07-T COSM4386180 c.796C>T p.R266* Substitution - Nonsense 17:47156959-47156959 - DN12015 COSM706045 c.762A>T p.L254F Substitution - Missense 17:47156993-47156993 - TCGA-B5-A0JY-01 COSM980369 c.1820T>C p.L607S Substitution - Missense 17:47137245-47137245 - PTC-10C COSM4130250 c.1116C>T p.N372N Substitution - coding silent 17:47143937-47143937 - PTC-28C COSM4130294 c.412T>G p.Y138D Substitution - Missense 17:47158269-47158269 - CRC-05T COSM4268102 c.228A>G p.A76A Substitution - coding silent 17:47171940-47171940 - WSU-HN30 COSM4593711 c.1873C>T p.R625* Substitution - Nonsense 17:47137192-47137192 - PT20_1 COSM5900617 c.500C>A p.T167K Substitution - Missense 17:47157360-47157360 - U343 COSM5712813 c.560A>T p.Q187L Substitution - Missense 17:47157300-47157300 - TCGA-CA-6718-01 COSM3691637 c.1127G>A p.R376Q Substitution - Missense 17:47143926-47143926 - XHDG16 COSM222498 c.794G>A p.G265D Substitution - Missense 17:47156961-47156961 - Detroit_562 COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - SWE-1C COSM1179367 c.411T>C p.C137C Substitution - coding silent 17:47158270-47158270 - PTC-70C COSM4130226 c.1438A>C p.N480H Substitution - Missense 17:47141966-47141966 - YUKAT COSM5386539 c.28G>A p.A10T Substitution - Missense 17:47181637-47181637 - PTC-7C COSM4130280 c.581C>G p.S194C Substitution - Missense 17:47157279-47157279 - QC2-30-T2 COSM1130270 c.771G>A p.Q257Q Substitution - coding silent 17:47156984-47156984 - BD174T COSM5521395 c.1913+9T>C p.? Unknown 17:47137143-47137143 - YUZINO COSM1710389 c.2054C>T p.S685L Substitution - Missense 17:47129499-47129499 - PT32 COSM5427028 c.1826A>G p.H609R Substitution - Missense 17:47137239-47137239 - PTC_276 COSM293444 c.501A>G p.T167T Substitution - coding silent 17:47157359-47157359 - PTC-14C COSM306937 c.1849T>C p.L617L Substitution - coding silent 17:47137216-47137216 - 5 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - TCGA-BS-A0UF-01 COSM980397 c.270A>C p.Q90H Substitution - Missense 17:47170024-47170024 - T23 COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - TCGA-AC-A3TN-01 COSM3819801 c.1746A>G p.E582E Substitution - coding silent 17:47137319-47137319 - WSU-HN12 COSM4130280 c.581C>G p.S194C Substitution - Missense 17:47157279-47157279 - PTC-7C COSM4130272 c.640A>G p.R214G Substitution - Missense 17:47157115-47157115 - PTC_286 COSM4598167 c.1827T>A p.H609Q Substitution - Missense 17:47137238-47137238 - PTC-28C COSM4130284 c.516T>G p.S172S Substitution - coding silent 17:47157344-47157344 - Sample_1 COSM472932 c.600A>C p.T200T Substitution - coding silent 17:47157260-47157260 - ESO-169 COSM1247755 c.745A>T p.T249S Substitution - Missense 17:47157010-47157010 - WSU-HN30 COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - CAL33 COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - PTC-28C COSM4130270 c.644T>G p.L215W Substitution - Missense 17:47157111-47157111 - CSCC-15-T COSM4454999 c.633A>T p.E211D Substitution - Missense 17:47157122-47157122 - RC-4 COSM328617 c.1287T>A p.I429I Substitution - coding silent 17:47142320-47142320 - LUAD_E00945 COSM389903 c.2139A>G p.L713L Substitution - coding silent 17:47129414-47129414 - TCGA-BT-A2LA-01 COSM1302942 c.1517G>A p.G506E Substitution - Missense 17:47141887-47141887 - NOKSI COSM4593711 c.1873C>T p.R625* Substitution - Nonsense 17:47137192-47137192 - N-Thy017 COSM4130284 c.516T>G p.S172S Substitution - coding silent 17:47157344-47157344 - CRC-25T COSM349353 c.1529T>G p.F510C Substitution - Missense 17:47141875-47141875 - PTC-46C COSM4130302 c.143A>C p.Y48S Substitution - Missense 17:47172025-47172025 - RC-1 COSM328617 c.1287T>A p.I429I Substitution - coding silent 17:47142320-47142320 - U343 COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - PTC_211 COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - PTC-7C COSM4130300 c.162A>C p.A54A Substitution - coding silent 17:47172006-47172006 - PTC-10C COSM4130304 c.135A>G p.A45A Substitution - coding silent 17:47172033-47172033 - UM-SCC-47 COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - PTC-10C COSM4130308 c.80T>C p.L27P Substitution - Missense 17:47181585-47181585 - PTC-10C COSM4130230 c.1306A>G p.I436V Substitution - Missense 17:47142301-47142301 - TCGA-33-4583-01 COSM706043 c.430T>G p.L144V Substitution - Missense 17:47158251-47158251 - TCGA-CW-5588-01 COSM472930 c.601G>A p.V201I Substitution - Missense 17:47157259-47157259 - TCGA-BS-A0UF-01 COSM980363 c.2103G>T p.K701N Substitution - Missense 17:47129450-47129450 - sysucc-1507T COSM5766248 c.1872T>C p.F624F Substitution - coding silent 17:47137193-47137193 - PTC-14C COSM4130220 c.1494T>C p.T498T Substitution - coding silent 17:47141910-47141910 - 93VU147T COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - UM-SCC-17B COSM4130280 c.581C>G p.S194C Substitution - Missense 17:47157279-47157279 - U87 COSM472932 c.600A>C p.T200T Substitution - coding silent 17:47157260-47157260 - TCGA-GC-A3BM-01 COSM3795709 c.277T>G p.S93A Substitution - Missense 17:47170017-47170017 - TCGA-G9-6365-01 COSM1130270 c.771G>A p.Q257Q Substitution - coding silent 17:47156984-47156984 - LUAD-B02077 COSM335059 c.1504C>G p.L502V Substitution - Missense 17:47141900-47141900 - TCGA-G9-6363-01 COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - CAL27 COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - sysucc-1484T COSM1200357 c.1903T>A p.Y635N Substitution - Missense 17:47137162-47137162 - TCGA-G9-6332-01 COSM293444 c.501A>G p.T167T Substitution - coding silent 17:47157359-47157359 - sysucc-1213T COSM5764352 c.1002A>G p.S334S Substitution - coding silent 17:47151874-47151874 - CRC-25T COSM306935 c.1887A>G p.R629R Substitution - coding silent 17:47137178-47137178 - TCGA-CH-5739-01 COSM1130264 c.735C>A p.V245V Substitution - coding silent 17:47157020-47157020 - PTC-28C COSM41553 c.1647T>G p.D549E Substitution - Missense 17:47138796-47138796 - PTC-70C COSM328617 c.1287T>A p.I429I Substitution - coding silent 17:47142320-47142320 - PS-286-3D COSM706045 c.762A>T p.L254F Substitution - Missense 17:47156993-47156993 - B80-3-Tumor COSM3932649 c.298C>T p.Q100* Substitution - Nonsense 17:47169996-47169996 - Sample_1 COSM5021947 c.1705-5T>A p.? Unknown 17:47137365-47137365 - SC_9099 COSM5550887 c.378C>T p.C126C Substitution - coding silent 17:47158303-47158303 - TCGA-14-1037 COSM2155296 c.1101T>G p.I367M Substitution - Missense 17:47143952-47143952 - C608 COSM4442789 c.367C>G p.H123D Substitution - Missense 17:47169927-47169927 - BICR_22 COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - TCGA-CJ-4643-01 COSM1130270 c.771G>A p.Q257Q Substitution - coding silent 17:47156984-47156984 - PTC-7C COSM4130210 c.1668A>C p.S556S Substitution - coding silent 17:47138775-47138775 - TCGA-AG-A002-01 COSM289660 c.1767C>A p.F589L Substitution - Missense 17:47137298-47137298 - PTC-10C COSM4130310 c.77T>C p.F26S Substitution - Missense 17:47181588-47181588 - PT34 COSM4268106 c.199A>C p.T67P Substitution - Missense 17:47171969-47171969 - WSU-HN13 COSM4593643 c.569A>G p.N190S Substitution - Missense 17:47157291-47157291 - SCC-9 COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - CAL33 COSM4130266 c.691T>C p.S231P Substitution - Missense 17:47157064-47157064 - PD3851a COSM219157 c.1998T>G p.P666P Substitution - coding silent 17:47132290-47132290 - sysucc-1213T COSM5764253 c.1008T>G p.S336R Substitution - Missense 17:47151868-47151868 - PTC-10C COSM4130254 c.823C>G p.L275V Substitution - Missense 17:47156932-47156932 - 0029_CRUK_PC_0029_T1_DNA COSM5421127 c.630+9C>G p.? Unknown 17:47157221-47157221 - PTC-14C COSM4130214 c.1640A>C p.Q547P Substitution - Missense 17:47138803-47138803 - SCC-25 COSM4130280 c.581C>G p.S194C Substitution - Missense 17:47157279-47157279 - TCGA-EA-A556-01 COSM222498 c.794G>A p.G265D Substitution - Missense 17:47156961-47156961 - TCGA-D5-5537-01 COSM1130267 c.754T>A p.S252T Substitution - Missense 17:47157001-47157001 - Pat_14_A COSM5852770 c.785delC p.P262fs*8 Deletion - Frameshift 17:47156970-47156970 - PTC-28C COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - PTC-14C COSM4130254 c.823C>G p.L275V Substitution - Missense 17:47156932-47156932 - T98G COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - UPCI:SCC090 COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - UM-SCC-11B COSM4593711 c.1873C>T p.R625* Substitution - Nonsense 17:47137192-47137192 - S02376 COSM5696991 c.1789G>A p.D597N Substitution - Missense 17:47137276-47137276 - CRC-26T COSM4130274 c.635T>G p.L212* Substitution - Nonsense 17:47157120-47157120 - SWE-45 COSM1130270 c.771G>A p.Q257Q Substitution - coding silent 17:47156984-47156984 - PTC-7C COSM4130226 c.1438A>C p.N480H Substitution - Missense 17:47141966-47141966 - GC_383T-GC_383N COSM4593643 c.569A>G p.N190S Substitution - Missense 17:47157291-47157291 - PT21_1 COSM1284028 c.174T>A p.Y58* Substitution - Nonsense 17:47171994-47171994 - sysucc-1317T COSM5448998 c.512C>T p.T171I Substitution - Missense 17:47157348-47157348 - PTC-7C COSM4130312 c.17A>G p.E6G Substitution - Missense 17:47189156-47189156 - CN-AML-NR-19-Dx COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - TCGA-CM-4750-01 COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - ORL-48 COSM4593711 c.1873C>T p.R625* Substitution - Nonsense 17:47137192-47137192 - PTC_158 COSM4130284 c.516T>G p.S172S Substitution - coding silent 17:47157344-47157344 - sysucc-692T COSM5453100 c.517T>C p.L173L Substitution - coding silent 17:47157343-47157343 - UM-SCC-4 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - UM-SCC-17B COSM4130186 c.1904A>G p.Y635C Substitution - Missense 17:47137161-47137161 - PTC-7C COSM4130254 c.823C>G p.L275V Substitution - Missense 17:47156932-47156932 - PTC-28C COSM4130184 c.1908T>G p.N636K Substitution - Missense 17:47137157-47137157 - WSU-HN30 COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - NOKSI COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - PTC-14C COSM306935 c.1887A>G p.R629R Substitution - coding silent 17:47137178-47137178 - NCI-H209 COSM41553 c.1647T>G p.D549E Substitution - Missense 17:47138796-47138796 - PT50 COSM1130248 c.327G>T p.E109D Substitution - Missense 17:47169967-47169967 - TCGA-CA-6717-01 COSM1383889 c.335A>G p.D112G Substitution - Missense 17:47169959-47169959 - T18 COSM5618624 c.213C>A p.C71* Substitution - Nonsense 17:47171955-47171955 - CRC-25T COSM436752 c.1531G>A p.E511K Substitution - Missense 17:47141873-47141873 - WSU-HN12 COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - PTC-14C COSM4130198 c.1780A>C p.I594L Substitution - Missense 17:47137285-47137285 - WSU-HN13 COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - Pat_14_B COSM5852770 c.785delC p.P262fs*8 Deletion - Frameshift 17:47156970-47156970 - PTC-14C COSM4130224 c.1471C>T p.L491L Substitution - coding silent 17:47141933-47141933 - 509T COSM706045 c.762A>T p.L254F Substitution - Missense 17:47156993-47156993 - UM-SCC-47 COSM4130280 c.581C>G p.S194C Substitution - Missense 17:47157279-47157279 - S0049 COSM222498 c.794G>A p.G265D Substitution - Missense 17:47156961-47156961 - SCC-25 COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - WSU-HN13 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - 2250174 COSM5030604 c.554_558delCAACA p.T186fs*3 Deletion - Frameshift 17:47157302-47157306 - CN-AML-CR-4-Dx COSM5427028 c.1826A>G p.H609R Substitution - Missense 17:47137239-47137239 - 990089 COSM1130251 c.332G>A p.G111D Substitution - Missense 17:47169962-47169962 - TCGA-AP-A059-01 COSM980385 c.1066A>G p.T356A Substitution - Missense 17:47151810-47151810 - TCGA-G2-A2EF-01 COSM1302940 c.2282C>T p.S761F Substitution - Missense 17:47122554-47122554 - PTC-28C COSM4130292 c.427A>C p.S143R Substitution - Missense 17:47158254-47158254 - AOCS-076-1-3 COSM3983514 c.959C>T p.S320F Substitution - Missense 17:47151917-47151917 - 536 COSM5611641 c.1523C>T p.A508V Substitution - Missense 17:47141881-47141881 - TCGA-CZ-5462-01 COSM472928 c.920T>A p.V307E Substitution - Missense 17:47154709-47154709 - B112-Tumor COSM1166693 c.1319G>A p.G440E Substitution - Missense 17:47142288-47142288 - BICR_22 COSM4130280 c.581C>G p.S194C Substitution - Missense 17:47157279-47157279 - UM-SCC-11B COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - PTC-88C COSM306937 c.1849T>C p.L617L Substitution - coding silent 17:47137216-47137216 - TCGA-AY-6386-01 COSM3755613 c.1788T>A p.V596V Substitution - coding silent 17:47137277-47137277 - U343 COSM4609858 c.572A>C p.H191P Substitution - Missense 17:47157288-47157288 - UM-SCC-47 COSM4593643 c.569A>G p.N190S Substitution - Missense 17:47157291-47157291 - CN-AML-16-T COSM293444 c.501A>G p.T167T Substitution - coding silent 17:47157359-47157359 - ME007T COSM222498 c.794G>A p.G265D Substitution - Missense 17:47156961-47156961 - WSU-HN6 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - 523LT COSM4386180 c.796C>T p.R266* Substitution - Nonsense 17:47156959-47156959 - CHC2211T COSM306933 c.60T>C p.A20A Substitution - coding silent 17:47181605-47181605 - TCGA-FS-A1ZW-06 COSM3518447 c.1136C>T p.S379L Substitution - Missense 17:47143917-47143917 - sysucc-1339T COSM4130256 c.790A>C p.T264P Substitution - Missense 17:47156965-47156965 - CRC-05T COSM4130262 c.705T>C p.I235I Substitution - coding silent 17:47157050-47157050 - 509 COSM5611631 c.1486T>C p.Y496H Substitution - Missense 17:47141918-47141918 - SCC-9 COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - SWE-10 COSM1130270 c.771G>A p.Q257Q Substitution - coding silent 17:47156984-47156984 - CN-AML-CR-7-Dx COSM5427028 c.1826A>G p.H609R Substitution - Missense 17:47137239-47137239 - RC-4 COSM328615 c.1358A>G p.N453S Substitution - Missense 17:47142249-47142249 - T578 COSM3889786 c.797G>A p.R266Q Substitution - Missense 17:47156958-47156958 - NB-0462 COSM1284030 c.333T>C p.G111G Substitution - coding silent 17:47169961-47169961 - SWE-17 COSM293444 c.501A>G p.T167T Substitution - coding silent 17:47157359-47157359 - PT19_2 COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - ESCC_109 COSM5638915 c.934T>C p.S312P Substitution - Missense 17:47154695-47154695 - U87 COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - UM-SCC-2 COSM3755615 c.1741C>T p.R581W Substitution - Missense 17:47137324-47137324 - N-Thy011 COSM4130250 c.1116C>T p.N372N Substitution - coding silent 17:47143937-47143937 - Pat_53_A COSM5852768 c.1415delG p.G472fs*3 Deletion - Frameshift 17:47141989-47141989 - 93VU147T COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - BHY COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - PT13 COSM5896301 c.1627C>T p.L543F Substitution - Missense 17:47138816-47138816 - PTC_286 COSM5427028 c.1826A>G p.H609R Substitution - Missense 17:47137239-47137239 - ICGC_MB20 COSM306933 c.60T>C p.A20A Substitution - coding silent 17:47181605-47181605 - PTC-14C COSM4130196 c.1783C>G p.Q595E Substitution - Missense 17:47137282-47137282 - GC_315T-GC_315N COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - TCGA-DD-A39Z-01 COSM4915856 c.344G>A p.C115Y Substitution - Missense 17:47169950-47169950 - pfg053T COSM4754187 c.47T>G p.L16R Substitution - Missense 17:47181618-47181618 - B86 COSM1130251 c.332G>A p.G111D Substitution - Missense 17:47169962-47169962 - Patient_5 COSM1179255 c.1867T>A p.C623S Substitution - Missense 17:47137198-47137198 - TCGA-A2-A04T-01 COSM3819805 c.637A>G p.N213D Substitution - Missense 17:47157118-47157118 - PTC-54C COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - WSU-HN12 COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - PCSI0018 COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - CN-AML-NR-37-Dx COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - 6 COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - PTC-88C COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - TCGA-CG-5721-01 COSM4067215 c.2267C>T p.A756V Substitution - Missense 17:47122569-47122569 - PTC-1C COSM4130258 c.778A>C p.N260H Substitution - Missense 17:47156977-47156977 - 1 COSM5015487 c.1428G>T p.L476F Substitution - Missense 17:47141976-47141976 - LN229 COSM1130261 c.513A>G p.T171T Substitution - coding silent 17:47157347-47157347 - AOCS-055-1-7 COSM3983512 c.1471C>G p.L491V Substitution - Missense 17:47141933-47141933 - UD-SCC-2 COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - QC2-22-T2 COSM5653066 c.499A>T p.T167S Substitution - Missense 17:47157361-47157361 - PT46 COSM5825981 c.1071-3delT p.? Unknown 17:47143985-47143985 - BHY COSM4130186 c.1904A>G p.Y635C Substitution - Missense 17:47137161-47137161 - PTC-77C COSM4130246 c.1146T>G p.F382L Substitution - Missense 17:47143907-47143907 - C126 COSM1383877 c.1795A>G p.N599D Substitution - Missense 17:47137270-47137270 - ID01 COSM1166711 c.206C>T p.P69L Substitution - Missense 17:47171962-47171962 - TCGA-AA-3971-01 COSM293444 c.501A>G p.T167T Substitution - coding silent 17:47157359-47157359 - TCGA-DD-A1ED-01 COSM222498 c.794G>A p.G265D Substitution - Missense 17:47156961-47156961 - PD3851a COSM219157 c.1998T>G p.P666P Substitution - coding silent 17:47132290-47132290 - CAL33 COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - UM-SCC-17B COSM1200357 c.1903T>A p.Y635N Substitution - Missense 17:47137162-47137162 - PCSI_0007_Pa_P COSM3787352 c.279T>C p.S93S Substitution - coding silent 17:47170015-47170015 - SWE-43 COSM1130267 c.754T>A p.S252T Substitution - Missense 17:47157001-47157001 - TCGA-FU-A23K-01 COSM3819803 c.724C>T p.P242S Substitution - Missense 17:47157031-47157031 - CHC1756T COSM306933 c.60T>C p.A20A Substitution - coding silent 17:47181605-47181605 - PTC-10C COSM306933 c.60T>C p.A20A Substitution - coding silent 17:47181605-47181605 - PT45 COSM111559 c.271delA p.I91fs*54 Deletion - Frameshift 17:47170023-47170023 - UM-SCC-11B COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - SJHGG010_D COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - PTC-46C COSM3755615 c.1741C>T p.R581W Substitution - Missense 17:47137324-47137324 - Sample_1 COSM4997577 c.1554T>C p.A518A Substitution - coding silent 17:47138889-47138889 - CN-AML-NR-27-Dx COSM222498 c.794G>A p.G265D Substitution - Missense 17:47156961-47156961 - T3088 COSM111559 c.271delA p.I91fs*54 Deletion - Frameshift 17:47170023-47170023 - PTC-14C COSM3932649 c.298C>T p.Q100* Substitution - Nonsense 17:47169996-47169996 - GC_342T_a-GC_342N COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - NOKSI COSM4130280 c.581C>G p.S194C Substitution - Missense 17:47157279-47157279 - TCGA-CH-5746-01 COSM1130278 c.1488C>T p.Y496Y Substitution - coding silent 17:47141916-47141916 - B86-Tumor COSM1130251 c.332G>A p.G111D Substitution - Missense 17:47169962-47169962 - TCGA-A7-A425-01 COSM3819803 c.724C>T p.P242S Substitution - Missense 17:47157031-47157031 - PTC-50C COSM306933 c.60T>C p.A20A Substitution - coding silent 17:47181605-47181605 - MCN168 COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - TCGA-GV-A40E-01 COSM3795707 c.1789G>C p.D597H Substitution - Missense 17:47137276-47137276 - PTC-70C COSM3932639 c.1275T>C p.D425D Substitution - coding silent 17:47142332-47142332 - TCGA-B5-A0JY-01 COSM980376 c.1183A>C p.K395Q Substitution - Missense 17:47142424-47142424 - U343 COSM1200357 c.1903T>A p.Y635N Substitution - Missense 17:47137162-47137162 - T98G COSM1130261 c.513A>G p.T171T Substitution - coding silent 17:47157347-47157347 - Pat_45_A COSM5852766 c.1522G>A p.A508T Substitution - Missense 17:47141882-47141882 - PTC-70C COSM306937 c.1849T>C p.L617L Substitution - coding silent 17:47137216-47137216 - TCGA-G9-6332-01 COSM1130264 c.735C>A p.V245V Substitution - coding silent 17:47157020-47157020 - SCC-25 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - OV209PT COSM253166 c.1694A>T p.N565I Substitution - Missense 17:47138749-47138749 - 6115123 COSM5572704 c.1527T>C p.Y509Y Substitution - coding silent 17:47141877-47141877 - S0087 COSM4386180 c.796C>T p.R266* Substitution - Nonsense 17:47156959-47156959 - PTC-14C COSM4130242 c.1181A>G p.K394R Substitution - Missense 17:47142426-47142426 - GC_315T-GC_315N COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - 2367455 COSM1128668 c.1660G>T p.V554F Substitution - Missense 17:47138783-47138783 - Sample_1 COSM4130312 c.17A>G p.E6G Substitution - Missense 17:47189156-47189156 - PTC-28C COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - PTC-10C COSM4130278 c.594T>C p.P198P Substitution - coding silent 17:47157266-47157266 - T98G COSM5712801 c.1900C>T p.H634Y Substitution - Missense 17:47137165-47137165 - PTC-77C COSM306935 c.1887A>G p.R629R Substitution - coding silent 17:47137178-47137178 - PTC-53C COSM306935 c.1887A>G p.R629R Substitution - coding silent 17:47137178-47137178 - T13 COSM1130270 c.771G>A p.Q257Q Substitution - coding silent 17:47156984-47156984 - sysucc-1028T COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - CN-AML-16-T COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - PTC-77C COSM304850 c.1133G>A p.S378N Substitution - Missense 17:47143920-47143920 - TCGA-AC-A3TN-01 COSM293444 c.501A>G p.T167T Substitution - coding silent 17:47157359-47157359 - CN-AML-31-T COSM222498 c.794G>A p.G265D Substitution - Missense 17:47156961-47156961 - ORL-48 COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - NOKSI COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - NOKSI COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - SJRHB049 COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - 2171 COSM1383877 c.1795A>G p.N599D Substitution - Missense 17:47137270-47137270 - PTC-14C COSM4130226 c.1438A>C p.N480H Substitution - Missense 17:47141966-47141966 - sysucc-1135T COSM1200357 c.1903T>A p.Y635N Substitution - Missense 17:47137162-47137162 - TCGA-AA-A01G-01 COSM299829 c.597G>A p.E199E Substitution - coding silent 17:47157263-47157263 - RC-6 COSM328617 c.1287T>A p.I429I Substitution - coding silent 17:47142320-47142320 - ORL-48 COSM3755615 c.1741C>T p.R581W Substitution - Missense 17:47137324-47137324 - CSCC-38-T COSM4478191 c.2201C>T p.P734L Substitution - Missense 17:47123920-47123920 - TCGA-04-1337-01 COSM115723 c.1649T>G p.V550G Substitution - Missense 17:47138794-47138794 - sysucc-274T COSM4268064 c.1825C>A p.H609N Substitution - Missense 17:47137240-47137240 - TCGA-B0-5096-01 COSM472926 c.1470T>A p.H490Q Substitution - Missense 17:47141934-47141934 - CN-AML-NR-16-Dx COSM3819803 c.724C>T p.P242S Substitution - Missense 17:47157031-47157031 - PTC-10C COSM4130190 c.1815T>G p.T605T Substitution - coding silent 17:47137250-47137250 - PTC-7C COSM4130292 c.427A>C p.S143R Substitution - Missense 17:47158254-47158254 - Detroit_562 COSM4268098 c.689C>A p.S230Y Substitution - Missense 17:47157066-47157066 - TCGA-EJ-5499-01 COSM1128668 c.1660G>T p.V554F Substitution - Missense 17:47138783-47138783 - PTC-28C COSM4130296 c.394G>A p.A132T Substitution - Missense 17:47158287-47158287 - ESO-0071 COSM1247753 c.799A>C p.S267R Substitution - Missense 17:47156956-47156956 - T5 COSM4268078 c.1510C>A p.Q504K Substitution - Missense 17:47141894-47141894 - RC-2 COSM328617 c.1287T>A p.I429I Substitution - coding silent 17:47142320-47142320 - U373 COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - TCGA-G9-6348-01 COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - BHY COSM4130280 c.581C>G p.S194C Substitution - Missense 17:47157279-47157279 - 824_T COSM3958463 c.2160+9A>T p.? Unknown 17:47129384-47129384 - SCC-15 COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - PTC-7C COSM4130274 c.635T>G p.L212* Substitution - Nonsense 17:47157120-47157120 - T31 COSM5619280 c.1674C>T p.D558D Substitution - coding silent 17:47138769-47138769 - TCGA-AA-A010-01 COSM169133 c.2206G>T p.E736* Substitution - Nonsense 17:47123915-47123915 - CN-AML-20-T COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - CPCG0103-P5 COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - TCGA-BS-A0TA-01 COSM980403 c.149G>A p.R50H Substitution - Missense 17:47172019-47172019 - PTC-10C COSM4130290 c.431T>G p.L144* Substitution - Nonsense 17:47158250-47158250 - PTC-73C COSM4130310 c.77T>C p.F26S Substitution - Missense 17:47181588-47181588 - CN-AML-NR-16-Dx COSM293444 c.501A>G p.T167T Substitution - coding silent 17:47157359-47157359 - BICR_22 COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - PTC-70C COSM4130276 c.629T>C p.I210T Substitution - Missense 17:47157231-47157231 - LN18 COSM394663 c.218A>G p.Y73C Substitution - Missense 17:47171950-47171950 - UM-SCC-2 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - CN-AML-NR-22-Dx COSM1130270 c.771G>A p.Q257Q Substitution - coding silent 17:47156984-47156984 - Single_Sample COSM4606425 c.449C>A p.S150Y Substitution - Missense 17:47158232-47158232 - PD3851a COSM219156 c.1999C>T p.Q667* Substitution - Nonsense 17:47132289-47132289 - PTC-54C COSM4130276 c.629T>C p.I210T Substitution - Missense 17:47157231-47157231 - ORL-48 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - TCGA-AG-3586-01 COSM287919 c.1593T>C p.Y531Y Substitution - coding silent 17:47138850-47138850 - SCC-9 COSM4130280 c.581C>G p.S194C Substitution - Missense 17:47157279-47157279 - Sample_1 COSM5021949 c.1434A>T p.S478S Substitution - coding silent 17:47141970-47141970 - PTC_13 COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - T3188 COSM4130286 c.464T>G p.L155* Substitution - Nonsense 17:47158217-47158217 - PT32 COSM4598167 c.1827T>A p.H609Q Substitution - Missense 17:47137238-47137238 - CRC-05T COSM5468509 c.1455A>C p.I485I Substitution - coding silent 17:47141949-47141949 - CRC-05T COSM4130308 c.80T>C p.L27P Substitution - Missense 17:47181585-47181585 - BCM617T COSM4950221 c.1067C>T p.T356I Substitution - Missense 17:47151809-47151809 - PTC-10C COSM472932 c.600A>C p.T200T Substitution - coding silent 17:47157260-47157260 - PTC-14C COSM4130240 c.1223A>G p.K408R Substitution - Missense 17:47142384-47142384 - CN-AML-CR-67-Dx COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - PD3851a COSM219157 c.1998T>G p.P666P Substitution - coding silent 17:47132290-47132290 - TCGA-D1-A16X-01 COSM980366 c.1846G>T p.E616* Substitution - Nonsense 17:47137219-47137219 - A6 COSM1130270 c.771G>A p.Q257Q Substitution - coding silent 17:47156984-47156984 - STC263 COSM4386180 c.796C>T p.R266* Substitution - Nonsense 17:47156959-47156959 - CSCC-44-T COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - PTC-70C COSM3932643 c.1266C>T p.N422N Substitution - coding silent 17:47142341-47142341 - T17 COSM1128668 c.1660G>T p.V554F Substitution - Missense 17:47138783-47138783 - TCGA-DS-A1OC-01 COSM349353 c.1529T>G p.F510C Substitution - Missense 17:47141875-47141875 - U87 COSM1200357 c.1903T>A p.Y635N Substitution - Missense 17:47137162-47137162 - STC265 COSM222498 c.794G>A p.G265D Substitution - Missense 17:47156961-47156961 - ME029T COSM222498 c.794G>A p.G265D Substitution - Missense 17:47156961-47156961 - LN229 COSM394663 c.218A>G p.Y73C Substitution - Missense 17:47171950-47171950 - CN-AML-CR-7-Dx COSM3755613 c.1788T>A p.V596V Substitution - coding silent 17:47137277-47137277 - PTC-77C COSM306933 c.60T>C p.A20A Substitution - coding silent 17:47181605-47181605 - TCGA-AP-A059-01 COSM980391 c.565C>T p.P189S Substitution - Missense 17:47157295-47157295 - PTC-53C COSM3932643 c.1266C>T p.N422N Substitution - coding silent 17:47142341-47142341 - WSU-HN30 COSM1200357 c.1903T>A p.Y635N Substitution - Missense 17:47137162-47137162 - B80-0-Tumor COSM3932637 c.1276A>G p.S426G Substitution - Missense 17:47142331-47142331 - T98G COSM1179255 c.1867T>A p.C623S Substitution - Missense 17:47137198-47137198 - PT53 COSM3755615 c.1741C>T p.R581W Substitution - Missense 17:47137324-47137324 - SCC-25 COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - T30 COSM127585 c.306C>T p.S102S Substitution - coding silent 17:47169988-47169988 - SCC-9 COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - CRC-05T COSM5468507 c.1461T>C p.I487I Substitution - coding silent 17:47141943-47141943 - SCC-15 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - PTC-7C COSM4130208 c.1677A>C p.L559F Substitution - Missense 17:47138766-47138766 - TCGA-36-1577-01 COSM111559 c.271delA p.I91fs*54 Deletion - Frameshift 17:47170023-47170023 - TCGA-AG-3892-01 COSM288645 c.1697C>T p.S566L Substitution - Missense 17:47138746-47138746 - UM-SCC-47 COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - S0060 COSM706041 c.71C>A p.A24E Substitution - Missense 17:47181594-47181594 - CN-AML-CR-67-Dx COSM1383887 c.672C>T p.Y224Y Substitution - coding silent 17:47157083-47157083 - PTC-14C COSM4130236 c.1250G>C p.G417A Substitution - Missense 17:47142357-47142357 - CAL33 COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - NOKSI COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - TCGA-AP-A051-01 COSM980388 c.784C>T p.P262S Substitution - Missense 17:47156971-47156971 - TCGA-EE-A3AE-06 COSM561284 c.1295T>C p.L432S Substitution - Missense 17:47142312-47142312 - TCGA-AP-A0LM-01 COSM980400 c.184A>G p.K62E Substitution - Missense 17:47171984-47171984 - NOKSI COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - Sample_1 COSM2155296 c.1101T>G p.I367M Substitution - Missense 17:47143952-47143952 - T31 COSM222498 c.794G>A p.G265D Substitution - Missense 17:47156961-47156961 - WSU-HN30 COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - PAPNNX COSM5004633 c.207G>A p.P69P Substitution - coding silent 17:47171961-47171961 - RC-11 COSM328615 c.1358A>G p.N453S Substitution - Missense 17:47142249-47142249 - PTC-28C COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - CSCC-20-T COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - CRC-25T COSM4130184 c.1908T>G p.N636K Substitution - Missense 17:47137157-47137157 - UM-SCC-11B COSM4598167 c.1827T>A p.H609Q Substitution - Missense 17:47137238-47137238 - ESCC_31 COSM5627820 c.548C>G p.S183C Substitution - Missense 17:47157312-47157312 - PTC_171 COSM5958017 c.554_555insCGC p.T185_T186insA Insertion - In frame 17:47157305-47157306 - PTC-28C COSM2155296 c.1101T>G p.I367M Substitution - Missense 17:47143952-47143952 - ORL-48 COSM1200357 c.1903T>A p.Y635N Substitution - Missense 17:47137162-47137162 - B89-1-Tumor COSM3932641 c.1270A>G p.N424D Substitution - Missense 17:47142337-47142337 - Single_Sample COSM293444 c.501A>G p.T167T Substitution - coding silent 17:47157359-47157359 - P148 COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - CRC-25T COSM306937 c.1849T>C p.L617L Substitution - coding silent 17:47137216-47137216 - AOCS-171-1-0 COSM3983516 c.720T>C p.I240I Substitution - coding silent 17:47157035-47157035 - UPCI:SCC090 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - PD22355a COSM5771049 c.2396G>A p.G799E Substitution - Missense 17:47121014-47121014 - PTC-7C COSM4130184 c.1908T>G p.N636K Substitution - Missense 17:47137157-47137157 - PTC-28C COSM4130290 c.431T>G p.L144* Substitution - Nonsense 17:47158250-47158250 - UPCI:SCC090 COSM4593711 c.1873C>T p.R625* Substitution - Nonsense 17:47137192-47137192 - 587238 COSM1200357 c.1903T>A p.Y635N Substitution - Missense 17:47137162-47137162 - TCGA-A2-A4RX-01 COSM1130270 c.771G>A p.Q257Q Substitution - coding silent 17:47156984-47156984 - PTC-14C COSM4130248 c.1121T>C p.L374P Substitution - Missense 17:47143932-47143932 - P149 COSM5010271 c.2155_2160+9delTATAAGGTAAGATAA p.? Unknown 17:47129384-47129398 - CN-AML-NR-20-Dx COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - UM-SCC-2 COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - SCC-25 COSM4593643 c.569A>G p.N190S Substitution - Missense 17:47157291-47157291 - CRC-05T COSM5468580 c.717_718AA>CC p.I240L Substitution - Missense 17:47157037-47157038 - BCM617T COSM4950221 c.1067C>T p.T356I Substitution - Missense 17:47151809-47151809 - UM-SCC-17B COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - PD3851a COSM219156 c.1999C>T p.Q667* Substitution - Nonsense 17:47132289-47132289 - T4 COSM1130278 c.1488C>T p.Y496Y Substitution - coding silent 17:47141916-47141916 - PTC-14C COSM4130188 c.1839A>C p.L613F Substitution - Missense 17:47137226-47137226 - TCGA-AX-A05Z-01 COSM288645 c.1697C>T p.S566L Substitution - Missense 17:47138746-47138746 - LN18 COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - SCC-25 COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - TCGA-AK-3447-01 COSM1493952 c.2372T>A p.I791K Substitution - Missense 17:47122464-47122464 - SCC-15 COSM4130264 c.704T>C p.I235T Substitution - Missense 17:47157051-47157051 - LPJ108 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - PTC-7C COSM4130248 c.1121T>C p.L374P Substitution - Missense 17:47143932-47143932 - UM-SCC-17B COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - T98G COSM1200357 c.1903T>A p.Y635N Substitution - Missense 17:47137162-47137162 - PTC-10C COSM4130200 c.1777G>A p.A593T Substitution - Missense 17:47137288-47137288 - WSU-HN30 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - ORL-48 COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - ESCC_BICR_020T COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - T98G COSM5712803 c.1880C>T p.A627V Substitution - Missense 17:47137185-47137185 - PTC_162 COSM4268064 c.1825C>A p.H609N Substitution - Missense 17:47137240-47137240 - TCGA-AA-A010-01 COSM279744 c.2344C>T p.R782C Substitution - Missense 17:47122492-47122492 - LN229 COSM4609858 c.572A>C p.H191P Substitution - Missense 17:47157288-47157288 - CRC-23T COSM287917 c.1599T>C p.V533V Substitution - coding silent 17:47138844-47138844 - Detroit_562 COSM1383887 c.672C>T p.Y224Y Substitution - coding silent 17:47157083-47157083 - WSU-HN6 COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - ORL-48 COSM4590002 c.714delT p.V239fs*1 Deletion - Frameshift 17:47157041-47157041 - PR-2872 COSM243573 c.858A>G p.P286P Substitution - coding silent 17:47154771-47154771 - WSU-HN13 COSM4130280 c.581C>G p.S194C Substitution - Missense 17:47157279-47157279 - CN-AML-09-T COSM293444 c.501A>G p.T167T Substitution - coding silent 17:47157359-47157359 - WSU-HN8 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - NOKSI COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - TCGA-B5-A0JY-01 COSM980379 c.1117G>A p.A373T Substitution - Missense 17:47143936-47143936 - PTC-14C COSM4130212 c.1641A>G p.Q547Q Substitution - coding silent 17:47138802-47138802 - WSU-HN30 COSM4593643 c.569A>G p.N190S Substitution - Missense 17:47157291-47157291 - U343 COSM472932 c.600A>C p.T200T Substitution - coding silent 17:47157260-47157260 - UM-SCC-2 COSM4130280 c.581C>G p.S194C Substitution - Missense 17:47157279-47157279 - S01504 COSM4386770 c.351T>C p.T117T Substitution - coding silent 17:47169943-47169943 - CN-AML-NR-27-Dx COSM3819803 c.724C>T p.P242S Substitution - Missense 17:47157031-47157031 - TCGA-18-3416-01 COSM706049 c.1485C>G p.H495Q Substitution - Missense 17:47141919-47141919 - PTC-7C COSM4130192 c.1800C>T p.Y600Y Substitution - coding silent 17:47137265-47137265 - PTC-10C COSM4130298 c.267A>T p.E89D Substitution - Missense 17:47170027-47170027 - 2292379 COSM4130200 c.1777G>A p.A593T Substitution - Missense 17:47137288-47137288 - TCGA-G9-6378-01 COSM1130257 c.477T>G p.G159G Substitution - coding silent 17:47157383-47157383 - CAL27 COSM1178872 c.818C>G p.A273G Substitution - Missense 17:47156937-47156937 - ORL-48 COSM4130186 c.1904A>G p.Y635C Substitution - Missense 17:47137161-47137161 - CRC-05T COSM306933 c.60T>C p.A20A Substitution - coding silent 17:47181605-47181605 - CN-AML-19-T COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - Pat_65_A COSM3518455 c.755C>T p.S252F Substitution - Missense 17:47157000-47157000 - PTC-10C COSM3932649 c.298C>T p.Q100* Substitution - Nonsense 17:47169996-47169996 - PTC-7C COSM4130286 c.464T>G p.L155* Substitution - Nonsense 17:47158217-47158217 - CRC-05T COSM349353 c.1529T>G p.F510C Substitution - Missense 17:47141875-47141875 - CRC-25T COSM4130308 c.80T>C p.L27P Substitution - Missense 17:47181585-47181585 - sysucc-1028T COSM1200357 c.1903T>A p.Y635N Substitution - Missense 17:47137162-47137162 - PT24_1 COSM4268062 c.1859C>T p.A620V Substitution - Missense 17:47137206-47137206 - UD-SCC-2 COSM1737258 c.519A>T p.L173F Substitution - Missense 17:47157341-47157341 - TCGA-DS-A0VM-01 COSM460316 c.284G>T p.G95V Substitution - Missense 17:47170010-47170010 - BHY COSM249059 c.1912T>C p.W638R Substitution - Missense 17:47137153-47137153 - ccRCC-87 COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - UM-SCC-17B COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - WSU-HN8 COSM3734972 c.701A>C p.Y234S Substitution - Missense 17:47157054-47157054 - UM-SCC-11B COSM1200357 c.1903T>A p.Y635N Substitution - Missense 17:47137162-47137162 - HN_62863 COSM127585 c.306C>T p.S102S Substitution - coding silent 17:47169988-47169988 - BN30T COSM3746445 c.1785A>G p.Q595Q Substitution - coding silent 17:47137280-47137280 - T17 COSM253166 c.1694A>T p.N565I Substitution - Missense 17:47138749-47138749 - CN-AML-NR-16-Dx COSM221832 c.821C>A p.A274D Substitution - Missense 17:47156934-47156934 - ID05 COSM1166693 c.1319G>A p.G440E Substitution - Missense 17:47142288-47142288 - B89-10-Tumor COSM3932639 c.1275T>C p.D425D Substitution - coding silent 17:47142332-47142332 - PTC-7C COSM4130296 c.394G>A p.A132T Substitution - Missense 17:47158287-47158287 - LN229 COSM5712813 c.560A>T p.Q187L Substitution - Missense 17:47157300-47157300 - TCGA-FS-A1ZP-06 COSM3518441 c.2377C>T p.Q793* Substitution - Nonsense 17:47122459-47122459 - TCGA-EK-A2PG-01 COSM4819437 c.1342C>T p.Q448* Substitution - Nonsense 17:47142265-47142265 - WSU-HN30 COSM4130186 c.1904A>G p.Y635C Substitution - Missense 17:47137161-47137161 - XHDG16 COSM3819803 c.724C>T p.P242S Substitution - Missense 17:47157031-47157031 - CRC-23T COSM306933 c.60T>C p.A20A Substitution - coding silent 17:47181605-47181605 - BK0034 COSM1166693 c.1319G>A p.G440E Substitution - Missense 17:47142288-47142288 - HCC58T COSM1610394 c.1634A>G p.H545R Substitution - Missense 17:47138809-47138809 - PTC-6C COSM4130300 c.162A>C p.A54A Substitution - coding silent 17:47172006-47172006 - A3 COSM293444 c.501A>G p.T167T Substitution - coding silent 17:47157359-47157359 - PTC_204 COSM4268064 c.1825C>A p.H609N Substitution - Missense 17:47137240-47137240 - T20 COSM111559 c.271delA p.I91fs*54 Deletion - Frameshift 17:47170023-47170023 - UM-SCC-2 COSM4593643 c.569A>G p.N190S Substitution - Missense 17:47157291-47157291 - TCGA-EJ-5542-01 COSM1130273 c.820G>T p.A274S Substitution - Missense 17:47156935-47156935 - SWE-29 COSM222498 c.794G>A p.G265D Substitution - Missense 17:47156961-47156961 - LN229 COSM5712809 c.563T>G p.V188G Substitution - Missense 17:47157297-47157297 - RC-18 COSM328615 c.1358A>G p.N453S Substitution - Missense 17:47142249-47142249 - Sample_1 COSM4130314 c.4A>G p.T2A Substitution - Missense 17:47189169-47189169 - PTC_185 COSM980373 c.1459A>G p.I487V Substitution - Missense 17:47141945-47141945 - EGC3 COSM4130266 c.691T>C p.S231P Substitution - Missense 17:47157064-47157064 - HN_63058 COSM127584 c.696G>A p.V232V Substitution - coding silent 17:47157059-47157059 - CRC-22T COSM5453098 c.537T>C p.C179C Substitution - coding silent 17:47157323-47157323 - PTC-7C COSM4130186 c.1904A>G p.Y635C Substitution - Missense 17:47137161-47137161 - PTC-77C COSM4130314 c.4A>G p.T2A Substitution - Missense 17:47189169-47189169 - YUKLAB COSM1302940 c.2282C>T p.S761F Substitution - Missense 17:47122554-47122554 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.463295 17q21.32 116946 2427437|CGAP|BC011656|A/G|non-coding||2596|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.G159G c.477T>G 17 45234749 PRAD A - Frameshift p.L460Hfs*9 c.1379delT 17 45219612 PRAD A G Synonymous p.G111G c.333T>C 17 45247327 NB A G Synonymous p.I240I c.720T>C 17 45234401 CM C A Missense p.A28S c.82G>T 17 45258949 HNSC C T Missense p.D243N c.727G>A 17 45234394 CM C T Missense p.D818N c.2452G>A 17 45198342 CM C T Missense p.G134R c.400G>A 17 45235647 CM C T Missense p.G512E c.1535G>A 17 45219253 CM C T Missense p.G750R c.2248G>A 17 45201257 BRCA C T Missense p.R266Q c.797G>A 17 45234324 CM C T Synonymous p.Q174Q c.522G>A 17 45234704 CM C T Synonymous p.V232V c.696G>A 17 45234425 HNSC G A IntronicSNV . c.378-1570C>T 17 45237239 HC G A Missense p.H496Y c.1486C>T 17 45219302 HC G A Missense p.S252F c.755C>T 17 45234366 CM G A Synonymous p.S102S c.306C>T 17 45247354 HNSC G C Missense p.G270A c.809G>C 17 45234312 BRCA T A Missense p.K447I c.1340A>T 17 45219651 SCLC T A Missense p.T249S c.745A>T 17 45234376 ESCA T C 3-UTRSNV . c.2490+494A>G 17 45197810 HC T C Missense p.Y502C c.1505A>G 17 45219283 ALL T - Frameshift p.I91Sfs*54 c.271delA 17 45247389 PRAD T G Missense p.S267R c.799A>C 17 45234322 ESCA