Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 17 60779069 60779069 + Missense_Mutation SNP C C T TCGA-P6-A5OH-01A-11D-A30A-10 TCGA-P6-A5OH-11A-01D-A30A-10 g.chr17:60779069C>T c.2422G>A c.(2422-2424)Gtc>Atc p.V808I BLCA 17 60788643 60788643 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 g.chr17:60788643C>G c.2277G>C c.(2275-2277)caG>caC p.Q759H BLCA 17 60799867 60799867 + Silent SNP C C T TCGA-2F-A9KR-01A-11D-A38G-08 TCGA-2F-A9KR-10A-01D-A38J-08 g.chr17:60799867C>T c.2196G>A c.(2194-2196)caG>caA p.Q732Q BLCA 17 60799942 60799942 + Silent SNP G G A TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr17:60799942G>A c.2121C>T c.(2119-2121)gcC>gcT p.A707A BLCA 17 60802301 60802301 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 g.chr17:60802301G>A c.2102C>T c.(2101-2103)tCa>tTa p.S701L BLCA 17 60813575 60813575 + Missense_Mutation SNP G G C TCGA-FD-A6TK-01A-42D-A339-08 TCGA-FD-A6TK-10A-21D-A339-08 g.chr17:60813575G>C c.1654C>G c.(1654-1656)Cag>Gag p.Q552E BLCA 17 60813767 60813767 + Missense_Mutation SNP C C A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 g.chr17:60813767C>A c.1462G>T c.(1462-1464)Gac>Tac p.D488Y BLCA 17 60813845 60813845 + Missense_Mutation SNP G G C TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr17:60813845G>C c.1384C>G c.(1384-1386)Cca>Gca p.P462A BLCA 17 60814068 60814068 + Silent SNP C C T TCGA-4Z-AA7Y-01A-11D-A391-08 TCGA-4Z-AA7Y-10A-01D-A394-08 g.chr17:60814068C>T c.1161G>A c.(1159-1161)gaG>gaA p.E387E BLCA 17 60814088 60814088 + Missense_Mutation SNP C C T TCGA-4Z-AA7Y-01A-11D-A391-08 TCGA-4Z-AA7Y-10A-01D-A394-08 g.chr17:60814088C>T c.1141G>A c.(1141-1143)Gat>Aat p.D381N BLCA 17 60814201 60814201 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr17:60814201G>C c.1028C>G c.(1027-1029)tCt>tGt p.S343C BLCA 17 60814261 60814261 + Missense_Mutation SNP G G A TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr17:60814261G>A c.968C>T c.(967-969)tCg>tTg p.S323L BLCA 17 60837358 60837358 + Missense_Mutation SNP C C T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr17:60837358C>T c.220G>A c.(220-222)Gag>Aag p.E74K BRCA 17 60782905 60782905 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr17:60782905delT c.2366delA c.(2365-2367)aatfs p.N789fs BRCA 17 60802440 60802440 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 g.chr17:60802440C>T c.1963G>A c.(1963-1965)Gag>Aag p.E655K BRCA 17 60814611 60814611 + Silent SNP C C A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 g.chr17:60814611C>A c.618G>T c.(616-618)tcG>tcT p.S206S BRCA 17 60821780 60821780 + Silent SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 g.chr17:60821780C>T c.492G>A c.(490-492)caG>caA p.Q164Q BRCA 17 60821843 60821843 + Silent SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 g.chr17:60821843C>G c.429G>C c.(427-429)ctG>ctC p.L143L BRCA 17 60865932 60865932 + Missense_Mutation SNP C C T TCGA-E9-A227-01A-11D-A159-09 TCGA-E9-A227-10A-01D-A159-09 g.chr17:60865932C>T c.119G>A c.(118-120)aGa>aAa p.R40K CESC 17 60799927 60799927 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr17:60799927C>T c.2136G>A c.(2134-2136)gaG>gaA p.E712E CESC 17 60813357 60813357 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr17:60813357G>A c.1872C>T c.(1870-1872)ttC>ttT p.F624F CESC 17 60814461 60814461 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr17:60814461G>C c.768C>G c.(766-768)ctC>ctG p.L256L COAD 17 60813653 60813653 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:60813653C>T c.1576G>A c.(1576-1578)Gaa>Aaa p.E526K COAD 17 60813805 60813805 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:60813805G>T c.1424C>A c.(1423-1425)tCa>tAa p.S475* COAD 17 60813847 60813847 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:60813847G>T c.1382C>A c.(1381-1383)tCt>tAt p.S461Y COAD 17 60813872 60813872 + Missense_Mutation SNP A A T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:60813872A>T c.1357T>A c.(1357-1359)Tac>Aac p.Y453N COAD 17 60813880 60813880 + Missense_Mutation SNP G G T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr17:60813880G>T c.1349C>A c.(1348-1350)tCt>tAt p.S450Y COAD 17 60814024 60814024 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr17:60814024G>A c.1205C>T c.(1204-1206)tCg>tTg p.S402L COAD 17 60814041 60814041 + Silent SNP C C T TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr17:60814041C>T c.1188G>A c.(1186-1188)gcG>gcA p.A396A COAD 17 60814118 60814118 + Missense_Mutation SNP G G T TCGA-A6-6782-01A-11D-1835-10 TCGA-A6-6782-10A-01D-1835-10 g.chr17:60814118G>T c.1111C>A c.(1111-1113)Caa>Aaa p.Q371K COAD 17 60814123 60814123 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr17:60814123G>A c.1106C>T c.(1105-1107)gCt>gTt p.A369V COAD 17 60814313 60814313 + Missense_Mutation SNP G G A TCGA-A6-3810-01A-01W-0995-10 TCGA-A6-3810-11A-01W-0995-10 g.chr17:60814313G>A c.916C>T c.(916-918)Cgc>Tgc p.R306C COAD 17 60814414 60814414 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:60814414C>T c.815G>A c.(814-816)cGa>cAa p.R272Q COAD 17 60814474 60814474 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr17:60814474G>A c.755C>T c.(754-756)tCg>tTg p.S252L COAD 17 60837288 60837288 + Frame_Shift_Del DEL G G - TCGA-AA-3664-01A-01W-0900-09 TCGA-AA-3664-10A-01W-0900-09 g.chr17:60837288delG c.290delC c.(289-291)ccafs p.P97fs COAD 17 60865855 60865855 + Missense_Mutation SNP A A C TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr17:60865855A>C c.196T>G c.(196-198)Tca>Gca p.S66A COAD 17 60865863 60865863 + Missense_Mutation SNP G G C TCGA-AA-A02K-01A-21W-A096-10 TCGA-AA-A02K-10A-01W-A096-10 g.chr17:60865863G>C c.188C>G c.(187-189)tCt>tGt p.S63C COAD 17 60865911 60865911 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:60865911C>T c.140G>A c.(139-141)cGc>cAc p.R47H COAD 17 60865930 60865930 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr17:60865930C>A c.121G>T c.(121-123)Gac>Tac p.D41Y COAD 17 60879011 60879011 + Missense_Mutation SNP T T C TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr17:60879011T>C c.86A>G c.(85-87)tAt>tGt p.Y29C COAD 17 60879073 60879073 + Silent SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr17:60879073C>T c.24G>A c.(22-24)agG>agA p.R8R COADREAD 17 60813653 60813653 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:60813653C>T c.1576G>A c.(1576-1578)Gaa>Aaa p.E526K COADREAD 17 60813805 60813805 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:60813805G>T c.1424C>A c.(1423-1425)tCa>tAa p.S475* COADREAD 17 60813847 60813847 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:60813847G>T c.1382C>A c.(1381-1383)tCt>tAt p.S461Y COADREAD 17 60813872 60813872 + Missense_Mutation SNP A A T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:60813872A>T c.1357T>A c.(1357-1359)Tac>Aac p.Y453N COADREAD 17 60813880 60813880 + Missense_Mutation SNP G G T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr17:60813880G>T c.1349C>A c.(1348-1350)tCt>tAt p.S450Y COADREAD 17 60814024 60814024 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr17:60814024G>A c.1205C>T c.(1204-1206)tCg>tTg p.S402L COADREAD 17 60814041 60814041 + Silent SNP C C T TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr17:60814041C>T c.1188G>A c.(1186-1188)gcG>gcA p.A396A COADREAD 17 60814118 60814118 + Missense_Mutation SNP G G T TCGA-A6-6782-01A-11D-1835-10 TCGA-A6-6782-10A-01D-1835-10 g.chr17:60814118G>T c.1111C>A c.(1111-1113)Caa>Aaa p.Q371K COADREAD 17 60814123 60814123 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr17:60814123G>A c.1106C>T c.(1105-1107)gCt>gTt p.A369V COADREAD 17 60814313 60814313 + Missense_Mutation SNP G G A TCGA-A6-3810-01A-01W-0995-10 TCGA-A6-3810-11A-01W-0995-10 g.chr17:60814313G>A c.916C>T c.(916-918)Cgc>Tgc p.R306C COADREAD 17 60814414 60814414 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:60814414C>T c.815G>A c.(814-816)cGa>cAa p.R272Q COADREAD 17 60814474 60814474 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr17:60814474G>A c.755C>T c.(754-756)tCg>tTg p.S252L COADREAD 17 60814611 60814611 + Silent SNP C C T TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chr17:60814611C>T c.618G>A c.(616-618)tcG>tcA p.S206S COADREAD 17 60821765 60821765 + Silent SNP A A T TCGA-AF-4110-01A-02D-1733-10 TCGA-AF-4110-10A-01D-1733-10 g.chr17:60821765A>T c.507T>A c.(505-507)ccT>ccA p.P169P COADREAD 17 60837288 60837288 + Frame_Shift_Del DEL G G - TCGA-AA-3664-01A-01W-0900-09 TCGA-AA-3664-10A-01W-0900-09 g.chr17:60837288delG c.290delC c.(289-291)ccafs p.P97fs COADREAD 17 60865855 60865855 + Missense_Mutation SNP A A C TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr17:60865855A>C c.196T>G c.(196-198)Tca>Gca p.S66A COADREAD 17 60865863 60865863 + Missense_Mutation SNP G G C TCGA-AA-A02K-01A-21W-A096-10 TCGA-AA-A02K-10A-01W-A096-10 g.chr17:60865863G>C c.188C>G c.(187-189)tCt>tGt p.S63C COADREAD 17 60865909 60865909 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:60865909C>T c.142G>A c.(142-144)Gat>Aat p.D48N COADREAD 17 60865911 60865911 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:60865911C>T c.140G>A c.(139-141)cGc>cAc p.R47H COADREAD 17 60865930 60865930 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr17:60865930C>A c.121G>T c.(121-123)Gac>Tac p.D41Y COADREAD 17 60879011 60879011 + Missense_Mutation SNP T T C TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr17:60879011T>C c.86A>G c.(85-87)tAt>tGt p.Y29C COADREAD 17 60879073 60879073 + Silent SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr17:60879073C>T c.24G>A c.(22-24)agG>agA p.R8R DLBC 17 60821880 60821880 + Missense_Mutation SNP G G T TCGA-GR-A4D9-01B-11D-A31X-10 TCGA-GR-A4D9-10A-01D-A31X-10 g.chr17:60821880G>T c.392C>A c.(391-393)gCa>gAa p.A131E ESCA 17 60813487 60813487 + Nonsense_Mutation SNP G G C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 g.chr17:60813487G>C c.1742C>G c.(1741-1743)tCa>tGa p.S581* ESCA 17 60865859 60865859 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 g.chr17:60865859G>T c.192C>A c.(190-192)agC>agA p.S64R ESCA 17 60865948 60865948 + Nonsense_Mutation SNP G G A TCGA-LN-A7HX-01A-11D-A33E-09 TCGA-LN-A7HX-10A-01D-A33H-09 g.chr17:60865948G>A c.103C>T c.(103-105)Cga>Tga p.R35* GBM 17 60865912 60865912 + Missense_Mutation SNP G G A TCGA-14-0789-01A-01W-0424-08 TCGA-14-0789-10A-01W-0424-08 g.chr17:60865912G>A c.139C>T c.(139-141)Cgc>Tgc p.R47C GBM 17 60879073 60879073 + Missense_Mutation SNP C C A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 g.chr17:60879073C>A c.24G>T c.(22-24)agG>agT p.R8S GBMLGG 17 60802387 60802387 + Silent SNP G G A TCGA-S9-A6U9-01A-11D-A32B-08 TCGA-S9-A6U9-10A-01D-A329-08 g.chr17:60802387G>A c.2016C>T c.(2014-2016)ccC>ccT p.P672P GBMLGG 17 60813930 60813930 + Silent SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:60813930G>T c.1299C>A c.(1297-1299)acC>acA p.T433T GBMLGG 17 60865889 60865889 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:60865889C>A c.162G>T c.(160-162)gaG>gaT p.E54D GBMLGG 17 60865912 60865912 + Missense_Mutation SNP G G A TCGA-14-0789-01A-01W-0424-08 TCGA-14-0789-10A-01W-0424-08 g.chr17:60865912G>A c.139C>T c.(139-141)Cgc>Tgc p.R47C GBMLGG 17 60879010 60879010 + Silent SNP A A G TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 g.chr17:60879010A>G c.87T>C c.(85-87)taT>taC p.Y29Y GBMLGG 17 60879033 60879033 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:60879033G>A c.64C>T c.(64-66)Cag>Tag p.Q22* GBMLGG 17 60879073 60879073 + Missense_Mutation SNP C C A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 g.chr17:60879073C>A c.24G>T c.(22-24)agG>agT p.R8S HNSC 17 60802416 60802416 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 g.chr17:60802416G>C c.1987C>G c.(1987-1989)Cag>Gag p.Q663E HNSC 17 60814396 60814396 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 g.chr17:60814396G>C c.833C>G c.(832-834)tCc>tGc p.S278C HNSC 17 60814545 60814545 + Missense_Mutation SNP C C G TCGA-IQ-A61E-01A-22D-A30E-08 TCGA-IQ-A61E-10A-01D-A30H-08 g.chr17:60814545C>G c.684G>C c.(682-684)caG>caC p.Q228H HNSC 17 60821758 60821758 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 g.chr17:60821758C>A c.514G>T c.(514-516)Gtg>Ttg p.V172L KIPAN 17 60802312 60802312 + Silent SNP C C A TCGA-BP-4993-01A-02D-1421-08 TCGA-BP-4993-11A-01D-1421-08 g.chr17:60802312C>A c.2091G>T c.(2089-2091)gtG>gtT p.V697V KIPAN 17 60813347 60813347 + Nonsense_Mutation SNP T T A TCGA-CZ-5458-01A-01D-1501-10 TCGA-CZ-5458-11A-01D-1501-10 g.chr17:60813347T>A c.1882A>T c.(1882-1884)Aag>Tag p.K628* KIPAN 17 60814440 60814441 + Missense_Mutation DNP CC CC AG TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr17:60814440_60814441CC>AG c.788_789GG>CT c.(787-789)gGG>gCT p.G263A KIRC 17 60802312 60802312 + Silent SNP C C A TCGA-BP-4993-01A-02D-1421-08 TCGA-BP-4993-11A-01D-1421-08 g.chr17:60802312C>A c.2091G>T c.(2089-2091)gtG>gtT p.V697V KIRC 17 60813347 60813347 + Nonsense_Mutation SNP T T A TCGA-CZ-5458-01A-01D-1501-10 TCGA-CZ-5458-11A-01D-1501-10 g.chr17:60813347T>A c.1882A>T c.(1882-1884)Aag>Tag p.K628* KIRC 17 60814440 60814441 + Missense_Mutation DNP CC CC AG TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr17:60814440_60814441CC>AG c.788_789GG>CT c.(787-789)gGG>gCT p.G263A LGG 17 60802387 60802387 + Silent SNP G G A TCGA-S9-A6U9-01A-11D-A32B-08 TCGA-S9-A6U9-10A-01D-A329-08 g.chr17:60802387G>A c.2016C>T c.(2014-2016)ccC>ccT p.P672P LGG 17 60813930 60813930 + Silent SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:60813930G>T c.1299C>A c.(1297-1299)acC>acA p.T433T LGG 17 60865889 60865889 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:60865889C>A c.162G>T c.(160-162)gaG>gaT p.E54D LGG 17 60879010 60879010 + Silent SNP A A G TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 g.chr17:60879010A>G c.87T>C c.(85-87)taT>taC p.Y29Y LGG 17 60879033 60879033 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:60879033G>A c.64C>T c.(64-66)Cag>Tag p.Q22* LIHC 17 60814012 60814012 + Missense_Mutation SNP T T A TCGA-2Y-A9H9-01A-21D-A38X-10 TCGA-2Y-A9H9-10A-01D-A38X-10 g.chr17:60814012T>A c.1217A>T c.(1216-1218)aAa>aTa p.K406I LIHC 17 60814029 60814029 + Silent SNP A A T TCGA-2Y-A9GV-01A-11D-A382-10 TCGA-2Y-A9GV-10A-01D-A385-10 g.chr17:60814029A>T c.1200T>A c.(1198-1200)ccT>ccA p.P400P LIHC 17 60821843 60821843 + Silent SNP C C A TCGA-3K-AAZ8-01A-12D-A38X-10 TCGA-3K-AAZ8-10A-01D-A38X-10 g.chr17:60821843C>A c.429G>T c.(427-429)ctG>ctT p.L143L LUAD 17 60799894 60799894 + Silent SNP A A G TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr17:60799894A>G c.2169T>C c.(2167-2169)ggT>ggC p.G723G LUAD 17 60802397 60802397 + Missense_Mutation SNP G G T TCGA-73-4677-01A-01D-1265-08 TCGA-73-4677-11A-01D-1265-08 g.chr17:60802397G>T c.2006C>A c.(2005-2007)cCa>cAa p.P669Q LUAD 17 60802428 60802428 + Missense_Mutation SNP A A T TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr17:60802428A>T c.1975T>A c.(1975-1977)Tgt>Agt p.C659S LUAD 17 60813518 60813518 + Missense_Mutation SNP A A G TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr17:60813518A>G c.1711T>C c.(1711-1713)Tcc>Ccc p.S571P LUAD 17 60813722 60813722 + Missense_Mutation SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 g.chr17:60813722C>T c.1507G>A c.(1507-1509)Gga>Aga p.G503R LUAD 17 60814126 60814126 + Missense_Mutation SNP G G T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr17:60814126G>T c.1103C>A c.(1102-1104)tCt>tAt p.S368Y LUAD 17 60814145 60814145 + Missense_Mutation SNP G G T TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr17:60814145G>T c.1084C>A c.(1084-1086)Cca>Aca p.P362T LUAD 17 60814219 60814219 + Missense_Mutation SNP T T C TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr17:60814219T>C c.1010A>G c.(1009-1011)gAa>gGa p.E337G LUAD 17 60814269 60814269 + Silent SNP C C G TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr17:60814269C>G c.960G>C c.(958-960)ggG>ggC p.G320G LUAD 17 60814344 60814344 + Silent SNP G G A TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr17:60814344G>A c.885C>T c.(883-885)acC>acT p.T295T LUAD 17 60821816 60821816 + Silent SNP C C T TCGA-73-4670-01A-01D-1265-08 TCGA-73-4670-11A-01D-1265-08 g.chr17:60821816C>T c.456G>A c.(454-456)tcG>tcA p.S152S LUAD 17 60821831 60821831 + Silent SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr17:60821831T>C c.441A>G c.(439-441)acA>acG p.T147T LUAD 17 60821890 60821890 + Splice_Site SNP C C G TCGA-17-Z062-01A-01W-0747-08 TCGA-17-Z062-11A-01W-0747-08 g.chr17:60821890C>G c.e5-1 LUAD 17 60865926 60865926 + Missense_Mutation SNP G G T TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr17:60865926G>T c.125C>A c.(124-126)cCa>cAa p.P42Q LUSC 17 60788625 60788625 + Missense_Mutation SNP C C G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 g.chr17:60788625C>G c.2295G>C c.(2293-2295)atG>atC p.M765I LUSC 17 60813357 60813357 + Silent SNP G G A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr17:60813357G>A c.1872C>T c.(1870-1872)ttC>ttT p.F624F LUSC 17 60813646 60813646 + Missense_Mutation SNP T T C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 g.chr17:60813646T>C c.1583A>G c.(1582-1584)cAt>cGt p.H528R LUSC 17 60814365 60814365 + Missense_Mutation SNP G G T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr17:60814365G>T c.864C>A c.(862-864)agC>agA p.S288R LUSC 17 60821758 60821758 + Missense_Mutation SNP C C A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 g.chr17:60821758C>A c.514G>T c.(514-516)Gtg>Ttg p.V172L LUSC 17 60837244 60837244 + Missense_Mutation SNP T T C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 g.chr17:60837244T>C c.334A>G c.(334-336)Atg>Gtg p.M112V LUSC 17 60837358 60837358 + Missense_Mutation SNP C C T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr17:60837358C>T c.220G>A c.(220-222)Gag>Aag p.E74K LUSC 17 60865910 60865910 + Silent SNP G G C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 g.chr17:60865910G>C c.141C>G c.(139-141)cgC>cgG p.R47R OV 17 60821763 60821763 + Missense_Mutation SNP G G T TCGA-23-2645-01A-01W-1091-09 TCGA-23-2645-10A-01W-1091-09 g.chr17:60821763G>T c.509C>A c.(508-510)gCa>gAa p.A170E OV 17 60837260 60837260 + Silent SNP C C T TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 g.chr17:60837260C>T c.318G>A c.(316-318)caG>caA p.Q106Q PAAD 17 60814645 60814645 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:60814645C>A c.584G>T c.(583-585)aGg>aTg p.R195M READ 17 60814611 60814611 + Silent SNP C C T TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chr17:60814611C>T c.618G>A c.(616-618)tcG>tcA p.S206S READ 17 60821765 60821765 + Silent SNP A A T TCGA-AF-4110-01A-02D-1733-10 TCGA-AF-4110-10A-01D-1733-10 g.chr17:60821765A>T c.507T>A c.(505-507)ccT>ccA p.P169P READ 17 60865909 60865909 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:60865909C>T c.142G>A c.(142-144)Gat>Aat p.D48N SKCM 17 60779114 60779114 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr17:60779114C>T c.2377G>A c.(2377-2379)Gag>Aag p.E793K SKCM 17 60779115 60779115 + Silent SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr17:60779115C>T c.2376G>A c.(2374-2376)tcG>tcA p.S792S SKCM 17 60788599 60788599 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr17:60788599C>T c.2321G>A c.(2320-2322)aGa>aAa p.R774K SKCM 17 60788641 60788641 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr17:60788641C>T c.2279G>A c.(2278-2280)aGg>aAg p.R760K SKCM 17 60799913 60799913 + Missense_Mutation SNP C C T TCGA-D3-A2JC-06A-11D-A19A-08 TCGA-D3-A2JC-10A-01D-A19A-08 g.chr17:60799913C>T c.2150G>A c.(2149-2151)gGc>gAc p.G717D SKCM 17 60802363 60802363 + Silent SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr17:60802363C>G c.2040G>C c.(2038-2040)gtG>gtC p.V680V SKCM 17 60802380 60802380 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr17:60802380C>T c.2023G>A c.(2023-2025)Gag>Aag p.E675K SKCM 17 60802403 60802403 + Missense_Mutation SNP C C A TCGA-EE-A29P-06A-11D-A197-08 TCGA-EE-A29P-10A-01D-A199-08 g.chr17:60802403C>A c.2000G>T c.(1999-2001)gGt>gTt p.G667V SKCM 17 60802406 60802406 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr17:60802406C>T c.1997G>A c.(1996-1998)gGg>gAg p.G666E SKCM 17 60802443 60802443 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 g.chr17:60802443C>T c.1960G>A c.(1960-1962)Gag>Aag p.E654K SKCM 17 60813389 60813389 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr17:60813389C>T c.1840G>A c.(1840-1842)Gat>Aat p.D614N SKCM 17 60813480 60813480 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr17:60813480C>T c.1749G>A c.(1747-1749)atG>atA p.M583I SKCM 17 60813510 60813510 + Silent SNP C C T TCGA-D9-A1JX-06A-11D-A19A-08 TCGA-D9-A1JX-10A-01D-A19A-08 g.chr17:60813510C>T c.1719G>A c.(1717-1719)gtG>gtA p.V573V SKCM 17 60813545 60813545 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr17:60813545G>A c.1684C>T c.(1684-1686)Ctc>Ttc p.L562F SKCM 17 60813617 60813617 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr17:60813617C>T c.1612G>A c.(1612-1614)Gaa>Aaa p.E538K SKCM 17 60813721 60813721 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr17:60813721C>T c.1508G>A c.(1507-1509)gGa>gAa p.G503E SKCM 17 60813770 60813770 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 g.chr17:60813770C>T c.1459G>A c.(1459-1461)Gta>Ata p.V487I SKCM 17 60813772 60813772 + Missense_Mutation SNP G G A TCGA-D3-A51J-06A-11D-A25O-08 TCGA-D3-A51J-10A-01D-A25O-08 g.chr17:60813772G>A c.1457C>T c.(1456-1458)cCa>cTa p.P486L SKCM 17 60813988 60813988 + Missense_Mutation SNP C C G TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 g.chr17:60813988C>G c.1241G>C c.(1240-1242)gGt>gCt p.G414A SKCM 17 60814024 60814024 + Missense_Mutation SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr17:60814024G>A c.1205C>T c.(1204-1206)tCg>tTg p.S402L SKCM 17 60814083 60814083 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr17:60814083C>T c.1146G>A c.(1144-1146)agG>agA p.R382R SKCM 17 60814171 60814171 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:60814171G>A c.1058C>T c.(1057-1059)tCa>tTa p.S353L SKCM 17 60814282 60814282 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:60814282C>T c.947G>A c.(946-948)aGa>aAa p.R316K SKCM 17 60814350 60814350 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:60814350C>T c.879G>A c.(877-879)gaG>gaA p.E293E SKCM 17 60814370 60814370 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr17:60814370C>T c.859G>A c.(859-861)Gaa>Aaa p.E287K SKCM 17 60814506 60814506 + Silent SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr17:60814506T>A c.723A>T c.(721-723)ggA>ggT p.G241G SKCM 17 60814507 60814507 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr17:60814507C>T c.722G>A c.(721-723)gGa>gAa p.G241E SKCM 17 60814507 60814507 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:60814507C>T c.722G>A c.(721-723)gGa>gAa p.G241E SKCM 17 60814508 60814508 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr17:60814508C>T c.721G>A c.(721-723)Gga>Aga p.G241R SKCM 17 60814521 60814521 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr17:60814521G>A c.708C>T c.(706-708)tcC>tcT p.S236S SKCM 17 60821749 60821749 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr17:60821749G>A c.523C>T c.(523-525)Ccc>Tcc p.P175S SKCM 17 60821803 60821803 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr17:60821803C>T c.469G>A c.(469-471)Gca>Aca p.A157T SKCM 17 60821840 60821840 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 g.chr17:60821840C>T c.432G>A c.(430-432)agG>agA p.R144R SKCM 17 60837199 60837199 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr17:60837199G>A c.379C>T c.(379-381)Cca>Tca p.P127S SKCM 17 60879061 60879061 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr17:60879061G>A c.36C>T c.(34-36)ttC>ttT p.F12F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 17 60814499 60814499 single base substitution T C missense_variant S112G 334A>G ALL-US 17 60814499 60814499 single base substitution T C missense_variant S243G 727A>G ALL-US 17 60814499 60814499 single base substitution T C missense_variant S244G 730A>G ALL-US 17 60814499 60814499 single base substitution T C missense_variant S282G 844A>G ALL-US 17 60814499 60814499 single base substitution T C upstream_gene_variant BLCA-CN 17 60782938 60782938 single base substitution G A intron_variant BLCA-CN 17 60782938 60782938 single base substitution G A missense_variant S777L 2330C>T BLCA-CN 17 60782938 60782938 single base substitution G A missense_variant S778L 2333C>T BLCA-CN 17 60782938 60782938 single base substitution G A missense_variant S816L 2447C>T BLCA-CN 17 60782938 60782938 single base substitution G A upstream_gene_variant BLCA-US 17 60813767 60813767 single base substitution C A missense_variant D356Y 1066G>T BLCA-US 17 60813767 60813767 single base substitution C A missense_variant D38Y 112G>T BLCA-US 17 60813767 60813767 single base substitution C A missense_variant D487Y 1459G>T BLCA-US 17 60813767 60813767 single base substitution C A missense_variant D488Y 1462G>T BLCA-US 17 60813767 60813767 single base substitution C A missense_variant D526Y 1576G>T BLCA-US 17 60814201 60814201 single base substitution G C missense_variant S211C 632C>G BLCA-US 17 60814201 60814201 single base substitution G C missense_variant S342C 1025C>G BLCA-US 17 60814201 60814201 single base substitution G C missense_variant S343C 1028C>G BLCA-US 17 60814201 60814201 single base substitution G C missense_variant S381C 1142C>G BLCA-US 17 60814201 60814201 single base substitution G C upstream_gene_variant BRCA-EU 17 60773700 60773700 single base substitution G A downstream_gene_variant BRCA-EU 17 60773982 60773982 single base substitution C G downstream_gene_variant BRCA-EU 17 60774230 60774230 single base substitution C G downstream_gene_variant BRCA-EU 17 60775125 60775125 single base substitution C T downstream_gene_variant BRCA-EU 17 60776070 60776070 single base substitution G A downstream_gene_variant BRCA-EU 17 60776386 60776386 single base substitution C G downstream_gene_variant BRCA-EU 17 60777431 60777431 single base substitution T G downstream_gene_variant BRCA-EU 17 60777597 60777597 single base substitution G A downstream_gene_variant BRCA-EU 17 60777741 60777741 single base substitution A T downstream_gene_variant BRCA-EU 17 60778232 60778232 single base substitution C G downstream_gene_variant BRCA-EU 17 60778460 60778460 single base substitution C G downstream_gene_variant BRCA-EU 17 60778551 60778551 single base substitution C A downstream_gene_variant BRCA-EU 17 60779326 60779326 single base substitution C T downstream_gene_variant BRCA-EU 17 60779326 60779326 single base substitution C T intron_variant BRCA-EU 17 60780127 60780127 single base substitution C G downstream_gene_variant BRCA-EU 17 60780127 60780127 single base substitution C G intron_variant BRCA-EU 17 60780315 60780315 single base substitution C T downstream_gene_variant BRCA-EU 17 60780315 60780315 single base substitution C T intron_variant BRCA-EU 17 60780676 60780676 single base substitution C T downstream_gene_variant BRCA-EU 17 60780676 60780676 single base substitution C T exon_variant BRCA-EU 17 60780676 60780676 single base substitution C T intron_variant BRCA-EU 17 60780788 60780788 single base substitution G C downstream_gene_variant BRCA-EU 17 60780788 60780788 single base substitution G C exon_variant BRCA-EU 17 60780788 60780788 single base substitution G C intron_variant BRCA-EU 17 60781200 60781200 single base substitution C T downstream_gene_variant BRCA-EU 17 60781200 60781200 single base substitution C T intron_variant BRCA-EU 17 60781200 60781200 single base substitution C T upstream_gene_variant BRCA-EU 17 60782951 60782951 single base substitution A T intron_variant BRCA-EU 17 60782951 60782951 single base substitution A T upstream_gene_variant BRCA-EU 17 60783774 60783774 single base substitution G A intron_variant BRCA-EU 17 60783774 60783774 single base substitution G A upstream_gene_variant BRCA-EU 17 60783930 60783930 single base substitution G T intron_variant BRCA-EU 17 60783930 60783930 single base substitution G T upstream_gene_variant BRCA-EU 17 60784740 60784740 single base substitution T C intron_variant BRCA-EU 17 60784740 60784740 single base substitution T C upstream_gene_variant BRCA-EU 17 60786505 60786505 single base substitution A C intron_variant BRCA-EU 17 60787176 60787176 single base substitution A G intron_variant BRCA-EU 17 60787595 60787595 single base substitution G C intron_variant BRCA-EU 17 60789123 60789123 single base substitution G C intron_variant BRCA-EU 17 60789605 60789605 single base substitution G A intron_variant BRCA-EU 17 60790820 60790820 single base substitution C T intron_variant BRCA-EU 17 60790836 60790836 single base substitution G C intron_variant BRCA-EU 17 60792071 60792071 single base substitution C G intron_variant BRCA-EU 17 60792531 60792531 single base substitution T G intron_variant BRCA-EU 17 60794659 60794659 single base substitution C G intron_variant BRCA-EU 17 60796674 60796674 insertion of <=200bp - T intron_variant BRCA-EU 17 60796937 60796937 deletion of <=200bp T - intron_variant BRCA-EU 17 60797613 60797613 single base substitution G C intron_variant BRCA-EU 17 60797674 60797674 single base substitution T C intron_variant BRCA-EU 17 60798030 60798030 single base substitution T G intron_variant BRCA-EU 17 60798473 60798473 single base substitution G A intron_variant BRCA-EU 17 60798777 60798777 single base substitution C T intron_variant BRCA-EU 17 60798895 60798895 single base substitution A T intron_variant BRCA-EU 17 60799246 60799246 single base substitution G C intron_variant BRCA-EU 17 60799624 60799624 single base substitution G A intron_variant BRCA-EU 17 60800613 60800613 single base substitution C T intron_variant BRCA-EU 17 60801158 60801158 single base substitution C T intron_variant BRCA-EU 17 60801517 60801517 single base substitution C G intron_variant BRCA-EU 17 60802341 60802341 single base substitution G A intron_variant BRCA-EU 17 60802341 60802341 single base substitution G A stop_gained Q556* 1666C>T BRCA-EU 17 60802341 60802341 single base substitution G A stop_gained Q687* 2059C>T BRCA-EU 17 60802341 60802341 single base substitution G A stop_gained Q688* 2062C>T BRCA-EU 17 60802341 60802341 single base substitution G A stop_gained Q726* 2176C>T BRCA-EU 17 60802446 60802446 single base substitution C T intron_variant BRCA-EU 17 60802446 60802446 single base substitution C T missense_variant E521K 1561G>A BRCA-EU 17 60802446 60802446 single base substitution C T missense_variant E652K 1954G>A BRCA-EU 17 60802446 60802446 single base substitution C T missense_variant E653K 1957G>A BRCA-EU 17 60802446 60802446 single base substitution C T missense_variant E691K 2071G>A BRCA-EU 17 60802634 60802634 deletion of <=200bp T - intron_variant BRCA-EU 17 60802885 60802885 single base substitution C T intron_variant BRCA-EU 17 60803349 60803349 single base substitution G A intron_variant BRCA-EU 17 60803677 60803677 single base substitution C T intron_variant BRCA-EU 17 60804210 60804210 single base substitution G A intron_variant BRCA-EU 17 60806147 60806147 single base substitution G C intron_variant BRCA-EU 17 60808602 60808602 single base substitution C G intron_variant BRCA-EU 17 60809901 60809901 single base substitution C A intron_variant BRCA-EU 17 60810589 60810589 single base substitution G C intron_variant BRCA-EU 17 60811936 60811936 single base substitution G A intron_variant BRCA-EU 17 60812387 60812387 single base substitution G C intron_variant BRCA-EU 17 60812412 60812412 single base substitution G T intron_variant BRCA-EU 17 60812419 60812419 single base substitution G C intron_variant BRCA-EU 17 60812731 60812732 deletion of <=200bp TC - intron_variant BRCA-EU 17 60812874 60812874 single base substitution G C intron_variant BRCA-EU 17 60814088 60814088 single base substitution C T missense_variant D249N 745G>A BRCA-EU 17 60814088 60814088 single base substitution C T missense_variant D380N 1138G>A BRCA-EU 17 60814088 60814088 single base substitution C T missense_variant D381N 1141G>A BRCA-EU 17 60814088 60814088 single base substitution C T missense_variant D419N 1255G>A BRCA-EU 17 60814088 60814088 single base substitution C T upstream_gene_variant BRCA-EU 17 60814378 60814378 single base substitution C T missense_variant S152N 455G>A BRCA-EU 17 60814378 60814378 single base substitution C T missense_variant S283N 848G>A BRCA-EU 17 60814378 60814378 single base substitution C T missense_variant S284N 851G>A BRCA-EU 17 60814378 60814378 single base substitution C T missense_variant S322N 965G>A BRCA-EU 17 60814378 60814378 single base substitution C T upstream_gene_variant BRCA-EU 17 60815030 60815030 deletion of <=200bp A - intron_variant BRCA-EU 17 60815030 60815030 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 60815416 60815416 single base substitution C T intron_variant BRCA-EU 17 60815416 60815416 single base substitution C T upstream_gene_variant BRCA-EU 17 60818915 60818915 single base substitution A T intron_variant BRCA-EU 17 60820530 60820530 single base substitution G A intron_variant BRCA-EU 17 60821407 60821407 single base substitution C A intron_variant BRCA-EU 17 60821545 60821545 single base substitution C T intron_variant BRCA-EU 17 60822472 60822472 single base substitution T C downstream_gene_variant BRCA-EU 17 60822472 60822472 single base substitution T C intron_variant BRCA-EU 17 60822472 60822472 single base substitution T C upstream_gene_variant BRCA-EU 17 60822719 60822719 single base substitution C A downstream_gene_variant BRCA-EU 17 60822719 60822719 single base substitution C A intron_variant BRCA-EU 17 60822719 60822719 single base substitution C A upstream_gene_variant BRCA-EU 17 60824700 60824700 single base substitution C G downstream_gene_variant BRCA-EU 17 60824700 60824700 single base substitution C G intron_variant BRCA-EU 17 60824700 60824700 single base substitution C G upstream_gene_variant BRCA-EU 17 60824836 60824836 single base substitution A G downstream_gene_variant BRCA-EU 17 60824836 60824836 single base substitution A G intron_variant BRCA-EU 17 60824836 60824836 single base substitution A G upstream_gene_variant BRCA-EU 17 60825377 60825378 deletion of <=200bp CT - downstream_gene_variant BRCA-EU 17 60825377 60825378 deletion of <=200bp CT - intron_variant BRCA-EU 17 60825377 60825378 deletion of <=200bp CT - upstream_gene_variant BRCA-EU 17 60828306 60828306 single base substitution C A intron_variant BRCA-EU 17 60828353 60828353 single base substitution C G intron_variant BRCA-EU 17 60828819 60828819 single base substitution C A intron_variant BRCA-EU 17 60830821 60830821 single base substitution C T intron_variant BRCA-EU 17 60831078 60831078 single base substitution A T intron_variant BRCA-EU 17 60832147 60832147 single base substitution C G intron_variant BRCA-EU 17 60832327 60832327 single base substitution C A intron_variant BRCA-EU 17 60833132 60833132 single base substitution G C intron_variant BRCA-EU 17 60836338 60836338 single base substitution C G intron_variant BRCA-EU 17 60836733 60836733 single base substitution C G intron_variant BRCA-EU 17 60836809 60836809 insertion of <=200bp - ATTGGTA intron_variant BRCA-EU 17 60837083 60837083 single base substitution C T intron_variant BRCA-EU 17 60837301 60837301 single base substitution C T missense_variant D18N 52G>A BRCA-EU 17 60837301 60837301 single base substitution C T missense_variant D93N 277G>A BRCA-EU 17 60837681 60837681 single base substitution G A intron_variant BRCA-EU 17 60837681 60837681 single base substitution G A upstream_gene_variant BRCA-EU 17 60838065 60838065 single base substitution T A intron_variant BRCA-EU 17 60838065 60838065 single base substitution T A upstream_gene_variant BRCA-EU 17 60839836 60839836 single base substitution C G intron_variant BRCA-EU 17 60839836 60839836 single base substitution C G upstream_gene_variant BRCA-EU 17 60840257 60840257 single base substitution A T intron_variant BRCA-EU 17 60840257 60840257 single base substitution A T upstream_gene_variant BRCA-EU 17 60840910 60840910 single base substitution C T intron_variant BRCA-EU 17 60840910 60840910 single base substitution C T upstream_gene_variant BRCA-EU 17 60841111 60841111 single base substitution G A intron_variant BRCA-EU 17 60841111 60841111 single base substitution G A upstream_gene_variant BRCA-EU 17 60841704 60841704 single base substitution G A intron_variant BRCA-EU 17 60841704 60841704 single base substitution G A upstream_gene_variant BRCA-EU 17 60843433 60843433 single base substitution C G intron_variant BRCA-EU 17 60843440 60843440 single base substitution C A intron_variant BRCA-EU 17 60844872 60844872 single base substitution C A intron_variant BRCA-EU 17 60845113 60845113 single base substitution G T intron_variant BRCA-EU 17 60845838 60845838 single base substitution G A intron_variant BRCA-EU 17 60847155 60847155 single base substitution C G intron_variant BRCA-EU 17 60847258 60847258 single base substitution T A intron_variant BRCA-EU 17 60847376 60847376 single base substitution C T intron_variant BRCA-EU 17 60847382 60847382 single base substitution C A intron_variant BRCA-EU 17 60847389 60847389 single base substitution G A intron_variant BRCA-EU 17 60847586 60847586 single base substitution C T intron_variant BRCA-EU 17 60848457 60848457 single base substitution C G intron_variant BRCA-EU 17 60849773 60849773 single base substitution T C intron_variant BRCA-EU 17 60850565 60850565 single base substitution G A intron_variant BRCA-EU 17 60851846 60851846 single base substitution C T intron_variant BRCA-EU 17 60853136 60853136 single base substitution A C intron_variant BRCA-EU 17 60854150 60854150 single base substitution C T downstream_gene_variant BRCA-EU 17 60854150 60854150 single base substitution C T intron_variant BRCA-EU 17 60854873 60854873 single base substitution C T downstream_gene_variant BRCA-EU 17 60854873 60854873 single base substitution C T intron_variant BRCA-EU 17 60855318 60855318 single base substitution C T downstream_gene_variant BRCA-EU 17 60855318 60855318 single base substitution C T intron_variant BRCA-EU 17 60855551 60855551 deletion of <=200bp C - downstream_gene_variant BRCA-EU 17 60855551 60855551 deletion of <=200bp C - intron_variant BRCA-EU 17 60855626 60855626 single base substitution G A downstream_gene_variant BRCA-EU 17 60855626 60855626 single base substitution G A intron_variant BRCA-EU 17 60855937 60855937 single base substitution C G downstream_gene_variant BRCA-EU 17 60855937 60855937 single base substitution C G intron_variant BRCA-EU 17 60856849 60856849 single base substitution C G downstream_gene_variant BRCA-EU 17 60856849 60856849 single base substitution C G intron_variant BRCA-EU 17 60857424 60857424 single base substitution C T downstream_gene_variant BRCA-EU 17 60857424 60857424 single base substitution C T intron_variant BRCA-EU 17 60857781 60857781 single base substitution G A downstream_gene_variant BRCA-EU 17 60857781 60857781 single base substitution G A intron_variant BRCA-EU 17 60858662 60858662 single base substitution C A intron_variant BRCA-EU 17 60859334 60859334 single base substitution T C intron_variant BRCA-EU 17 60859577 60859577 single base substitution C T intron_variant BRCA-EU 17 60860363 60860363 single base substitution C T intron_variant BRCA-EU 17 60860379 60860379 single base substitution G C intron_variant BRCA-EU 17 60860597 60860597 single base substitution T G intron_variant BRCA-EU 17 60861407 60861407 single base substitution C A downstream_gene_variant BRCA-EU 17 60861407 60861407 single base substitution C A intron_variant BRCA-EU 17 60862703 60862703 single base substitution A G downstream_gene_variant BRCA-EU 17 60862703 60862703 single base substitution A G intron_variant BRCA-EU 17 60863388 60863388 single base substitution A G downstream_gene_variant BRCA-EU 17 60863388 60863388 single base substitution A G intron_variant BRCA-EU 17 60864324 60864324 single base substitution C A downstream_gene_variant BRCA-EU 17 60864324 60864324 single base substitution C A intron_variant BRCA-EU 17 60864771 60864773 deletion of <=200bp AAG - downstream_gene_variant BRCA-EU 17 60864771 60864773 deletion of <=200bp AAG - intron_variant BRCA-EU 17 60865186 60865186 single base substitution T G downstream_gene_variant BRCA-EU 17 60865186 60865186 single base substitution T G intron_variant BRCA-EU 17 60865660 60865660 single base substitution C T downstream_gene_variant BRCA-EU 17 60865660 60865660 single base substitution C T intron_variant BRCA-EU 17 60865767 60865768 deletion of <=200bp CA - downstream_gene_variant BRCA-EU 17 60865767 60865768 deletion of <=200bp CA - intron_variant BRCA-EU 17 60867218 60867218 single base substitution C G intron_variant BRCA-EU 17 60868651 60868651 single base substitution G A intron_variant BRCA-EU 17 60869018 60869018 single base substitution A T intron_variant BRCA-EU 17 60869211 60869211 single base substitution C G intron_variant BRCA-EU 17 60871703 60871703 single base substitution C G intron_variant BRCA-EU 17 60871899 60871899 single base substitution C T intron_variant BRCA-EU 17 60871935 60871935 single base substitution G A intron_variant BRCA-EU 17 60872154 60872154 single base substitution G A intron_variant BRCA-EU 17 60872491 60872491 single base substitution G A intron_variant BRCA-EU 17 60872954 60872954 single base substitution G A intron_variant BRCA-EU 17 60873012 60873012 single base substitution T A intron_variant BRCA-EU 17 60873315 60873315 deletion of <=200bp T - intron_variant BRCA-EU 17 60873319 60873319 single base substitution C A intron_variant BRCA-EU 17 60873523 60873523 single base substitution C G intron_variant BRCA-EU 17 60874392 60874392 deletion of <=200bp A - intron_variant BRCA-EU 17 60874392 60874392 single base substitution A G intron_variant BRCA-EU 17 60874682 60874682 single base substitution C T intron_variant BRCA-EU 17 60875695 60875695 single base substitution C T intron_variant BRCA-EU 17 60878028 60878028 single base substitution C G intron_variant BRCA-EU 17 60879230 60879230 single base substitution G C intron_variant BRCA-EU 17 60880542 60880542 single base substitution C T intron_variant BRCA-EU 17 60882538 60882538 single base substitution T A intron_variant BRCA-EU 17 60882705 60882705 single base substitution C T intron_variant BRCA-EU 17 60882863 60882863 single base substitution C T intron_variant BRCA-EU 17 60882866 60882866 single base substitution G A intron_variant BRCA-EU 17 60883685 60883685 single base substitution G C intron_variant BRCA-EU 17 60883842 60883842 single base substitution T G 5_prime_UTR_variant BRCA-EU 17 60883842 60883842 single base substitution T G intron_variant BRCA-EU 17 60883845 60883845 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 17 60883845 60883845 single base substitution T C intron_variant BRCA-EU 17 60884196 60884196 single base substitution C T intron_variant BRCA-EU 17 60884196 60884196 single base substitution C T upstream_gene_variant BRCA-EU 17 60884380 60884380 single base substitution G A intron_variant BRCA-EU 17 60884380 60884380 single base substitution G A upstream_gene_variant BRCA-EU 17 60885335 60885335 single base substitution T A intron_variant BRCA-EU 17 60885335 60885335 single base substitution T A upstream_gene_variant BRCA-EU 17 60886901 60886901 single base substitution C T upstream_gene_variant BRCA-EU 17 60887488 60887488 single base substitution A G upstream_gene_variant BRCA-EU 17 60887689 60887689 single base substitution G C upstream_gene_variant BRCA-EU 17 60887933 60887933 single base substitution A G upstream_gene_variant BRCA-EU 17 60888526 60888526 single base substitution G T upstream_gene_variant BRCA-EU 17 60888603 60888603 single base substitution G C upstream_gene_variant BRCA-EU 17 60888730 60888730 single base substitution G A upstream_gene_variant BRCA-EU 17 60889697 60889697 single base substitution G A upstream_gene_variant BRCA-EU 17 60889839 60889839 single base substitution C T upstream_gene_variant BRCA-EU 17 60890185 60890185 single base substitution C T upstream_gene_variant BRCA-EU 17 60890663 60890663 single base substitution C T upstream_gene_variant BRCA-FR 17 60776070 60776070 single base substitution G A downstream_gene_variant BRCA-FR 17 60776386 60776386 single base substitution C G downstream_gene_variant BRCA-FR 17 60778232 60778232 single base substitution C G downstream_gene_variant BRCA-FR 17 60779753 60779753 single base substitution G A downstream_gene_variant BRCA-FR 17 60779753 60779753 single base substitution G A intron_variant BRCA-FR 17 60781200 60781200 single base substitution C T downstream_gene_variant BRCA-FR 17 60781200 60781200 single base substitution C T intron_variant BRCA-FR 17 60781200 60781200 single base substitution C T upstream_gene_variant BRCA-FR 17 60789123 60789123 single base substitution G C intron_variant BRCA-FR 17 60789605 60789605 single base substitution G A intron_variant BRCA-FR 17 60790719 60790719 single base substitution T C intron_variant BRCA-FR 17 60790751 60790751 single base substitution T A intron_variant BRCA-FR 17 60792651 60792651 single base substitution A C intron_variant BRCA-FR 17 60794659 60794659 single base substitution C G intron_variant BRCA-FR 17 60797613 60797613 single base substitution G C intron_variant BRCA-FR 17 60798946 60798946 single base substitution G A intron_variant BRCA-FR 17 60799008 60799008 single base substitution G C intron_variant BRCA-FR 17 60799059 60799059 single base substitution G C intron_variant BRCA-FR 17 60799539 60799539 single base substitution G A intron_variant BRCA-FR 17 60800613 60800613 single base substitution C T intron_variant BRCA-FR 17 60802341 60802341 single base substitution G A intron_variant BRCA-FR 17 60802341 60802341 single base substitution G A stop_gained Q556* 1666C>T BRCA-FR 17 60802341 60802341 single base substitution G A stop_gained Q687* 2059C>T BRCA-FR 17 60802341 60802341 single base substitution G A stop_gained Q688* 2062C>T BRCA-FR 17 60802341 60802341 single base substitution G A stop_gained Q726* 2176C>T BRCA-FR 17 60802885 60802885 single base substitution C T intron_variant BRCA-FR 17 60803677 60803677 single base substitution C T intron_variant BRCA-FR 17 60809824 60809824 single base substitution C T intron_variant BRCA-FR 17 60811884 60811884 single base substitution G C intron_variant BRCA-FR 17 60811893 60811893 single base substitution G C intron_variant BRCA-FR 17 60811936 60811936 single base substitution G A intron_variant BRCA-FR 17 60812387 60812387 single base substitution G C intron_variant BRCA-FR 17 60812412 60812412 single base substitution G T intron_variant BRCA-FR 17 60812419 60812419 single base substitution G C intron_variant BRCA-FR 17 60812874 60812874 single base substitution G C intron_variant BRCA-FR 17 60815202 60815202 single base substitution G A intron_variant BRCA-FR 17 60815202 60815202 single base substitution G A upstream_gene_variant BRCA-FR 17 60816282 60816282 single base substitution G A intron_variant BRCA-FR 17 60816282 60816282 single base substitution G A upstream_gene_variant BRCA-FR 17 60828353 60828353 single base substitution C G intron_variant BRCA-FR 17 60830821 60830821 single base substitution C T intron_variant BRCA-FR 17 60832056 60832056 single base substitution G C intron_variant BRCA-FR 17 60832147 60832147 single base substitution C G intron_variant BRCA-FR 17 60832327 60832327 single base substitution C A intron_variant BRCA-FR 17 60832987 60832987 single base substitution G C intron_variant BRCA-FR 17 60836733 60836733 single base substitution C G intron_variant BRCA-FR 17 60837083 60837083 single base substitution C T intron_variant BRCA-FR 17 60837301 60837301 single base substitution C T missense_variant D18N 52G>A BRCA-FR 17 60837301 60837301 single base substitution C T missense_variant D93N 277G>A BRCA-FR 17 60847155 60847155 single base substitution C G intron_variant BRCA-FR 17 60850565 60850565 single base substitution G A intron_variant BRCA-FR 17 60852380 60852380 single base substitution A G intron_variant BRCA-FR 17 60852385 60852385 single base substitution A G intron_variant BRCA-FR 17 60855318 60855318 single base substitution C T downstream_gene_variant BRCA-FR 17 60855318 60855318 single base substitution C T intron_variant BRCA-FR 17 60866598 60866598 single base substitution A T intron_variant BRCA-FR 17 60868651 60868651 single base substitution G A intron_variant BRCA-FR 17 60872154 60872154 single base substitution G A intron_variant BRCA-FR 17 60874682 60874682 single base substitution C T intron_variant BRCA-FR 17 60889839 60889839 single base substitution C T upstream_gene_variant BRCA-FR 17 60889963 60889963 single base substitution T C upstream_gene_variant BRCA-KR 17 60813995 60813995 single base substitution C T missense_variant E280K 838G>A BRCA-KR 17 60813995 60813995 single base substitution C T missense_variant E411K 1231G>A BRCA-KR 17 60813995 60813995 single base substitution C T missense_variant E412K 1234G>A BRCA-KR 17 60813995 60813995 single base substitution C T missense_variant E450K 1348G>A BRCA-KR 17 60813995 60813995 single base substitution C T upstream_gene_variant BRCA-KR 17 60865900 60865900 single base substitution A C exon_variant BRCA-KR 17 60865900 60865900 single base substitution A C missense_variant W51G 151T>G BRCA-UK 17 60777741 60777741 single base substitution A T downstream_gene_variant BRCA-UK 17 60797674 60797674 single base substitution T C intron_variant BRCA-UK 17 60801158 60801158 single base substitution C T intron_variant BRCA-UK 17 60802416 60802416 single base substitution G C intron_variant BRCA-UK 17 60802416 60802416 single base substitution G C missense_variant Q531E 1591C>G BRCA-UK 17 60802416 60802416 single base substitution G C missense_variant Q662E 1984C>G BRCA-UK 17 60802416 60802416 single base substitution G C missense_variant Q663E 1987C>G BRCA-UK 17 60802416 60802416 single base substitution G C missense_variant Q701E 2101C>G BRCA-UK 17 60835972 60835972 single base substitution G A intron_variant BRCA-UK 17 60861841 60861841 single base substitution C G downstream_gene_variant BRCA-UK 17 60861841 60861841 single base substitution C G intron_variant BRCA-US 17 60782905 60782905 deletion of <=200bp T - frameshift_variant N788 BRCA-US 17 60782905 60782905 deletion of <=200bp T - frameshift_variant N789 BRCA-US 17 60782905 60782905 deletion of <=200bp T - frameshift_variant N827 BRCA-US 17 60782905 60782905 deletion of <=200bp T - intron_variant BRCA-US 17 60782905 60782905 deletion of <=200bp T - upstream_gene_variant BRCA-US 17 60802440 60802440 single base substitution C T intron_variant BRCA-US 17 60802440 60802440 single base substitution C T missense_variant E523K 1567G>A BRCA-US 17 60802440 60802440 single base substitution C T missense_variant E654K 1960G>A BRCA-US 17 60802440 60802440 single base substitution C T missense_variant E655K 1963G>A BRCA-US 17 60802440 60802440 single base substitution C T missense_variant E693K 2077G>A BRCA-US 17 60814611 60814611 single base substitution C A synonymous_variant S205S 615G>T BRCA-US 17 60814611 60814611 single base substitution C A synonymous_variant S206S 618G>T BRCA-US 17 60814611 60814611 single base substitution C A synonymous_variant S244S 732G>T BRCA-US 17 60814611 60814611 single base substitution C A synonymous_variant S74S 222G>T BRCA-US 17 60814611 60814611 single base substitution C A upstream_gene_variant BRCA-US 17 60821780 60821780 single base substitution C T synonymous_variant Q163Q 489G>A BRCA-US 17 60821780 60821780 single base substitution C T synonymous_variant Q164Q 492G>A BRCA-US 17 60821780 60821780 single base substitution C T synonymous_variant Q202Q 606G>A BRCA-US 17 60821780 60821780 single base substitution C T synonymous_variant Q32Q 96G>A BRCA-US 17 60821843 60821843 single base substitution C G synonymous_variant L11L 33G>C BRCA-US 17 60821843 60821843 single base substitution C G synonymous_variant L142L 426G>C BRCA-US 17 60821843 60821843 single base substitution C G synonymous_variant L143L 429G>C BRCA-US 17 60821843 60821843 single base substitution C G synonymous_variant L181L 543G>C BRCA-US 17 60827660 60827660 single base substitution A G intron_variant BRCA-US 17 60827660 60827660 single base substitution A G missense_variant V132A 395T>C BRCA-US 17 60865932 60865932 single base substitution C T exon_variant BRCA-US 17 60865932 60865932 single base substitution C T missense_variant R40K 119G>A BTCA-JP 17 60779024 60779024 single base substitution C T 3_prime_UTR_variant BTCA-JP 17 60779024 60779024 single base substitution C T downstream_gene_variant BTCA-JP 17 60779024 60779024 single base substitution C T exon_variant BTCA-JP 17 60779024 60779024 single base substitution C T intron_variant BTCA-JP 17 60779024 60779024 single base substitution C T synonymous_variant L676L 2028G>A BTCA-JP 17 60878942 60878942 single base substitution T C intron_variant CESC-US 17 60799927 60799927 single base substitution C T intron_variant CESC-US 17 60799927 60799927 single base substitution C T synonymous_variant E580E 1740G>A CESC-US 17 60799927 60799927 single base substitution C T synonymous_variant E711E 2133G>A CESC-US 17 60799927 60799927 single base substitution C T synonymous_variant E712E 2136G>A CESC-US 17 60799927 60799927 single base substitution C T synonymous_variant E750E 2250G>A CESC-US 17 60813357 60813357 single base substitution G A intron_variant CESC-US 17 60813357 60813357 single base substitution G A synonymous_variant F492F 1476C>T CESC-US 17 60813357 60813357 single base substitution G A synonymous_variant F623F 1869C>T CESC-US 17 60813357 60813357 single base substitution G A synonymous_variant F624F 1872C>T CESC-US 17 60813357 60813357 single base substitution G A synonymous_variant F662F 1986C>T CESC-US 17 60814461 60814461 single base substitution G C synonymous_variant L124L 372C>G CESC-US 17 60814461 60814461 single base substitution G C synonymous_variant L255L 765C>G CESC-US 17 60814461 60814461 single base substitution G C synonymous_variant L256L 768C>G CESC-US 17 60814461 60814461 single base substitution G C synonymous_variant L294L 882C>G CESC-US 17 60814461 60814461 single base substitution G C upstream_gene_variant CLLE-ES 17 60783264 60783264 single base substitution A G intron_variant CLLE-ES 17 60783264 60783264 single base substitution A G upstream_gene_variant CLLE-ES 17 60810214 60810214 single base substitution C T intron_variant CLLE-ES 17 60827654 60827654 single base substitution C G intron_variant CLLE-ES 17 60827654 60827654 single base substitution C G missense_variant C134S 401G>C CLLE-ES 17 60843027 60843027 single base substitution G A intron_variant CLLE-ES 17 60846047 60846047 single base substitution T C intron_variant CLLE-ES 17 60854408 60854408 single base substitution C A downstream_gene_variant CLLE-ES 17 60854408 60854408 single base substitution C A intron_variant CLLE-ES 17 60854777 60854777 single base substitution C T downstream_gene_variant CLLE-ES 17 60854777 60854777 single base substitution C T intron_variant CLLE-ES 17 60876005 60876005 single base substitution C A intron_variant CLLE-ES 17 60883524 60883524 single base substitution G A intron_variant CLLE-ES 17 60885234 60885234 single base substitution A G intron_variant CLLE-ES 17 60885234 60885234 single base substitution A G upstream_gene_variant COAD-US 17 60813627 60813627 single base substitution G A intron_variant COAD-US 17 60813627 60813627 single base substitution G A synonymous_variant N402N 1206C>T COAD-US 17 60813627 60813627 single base substitution G A synonymous_variant N533N 1599C>T COAD-US 17 60813627 60813627 single base substitution G A synonymous_variant N534N 1602C>T COAD-US 17 60813627 60813627 single base substitution G A synonymous_variant N572N 1716C>T COAD-US 17 60813653 60813653 single base substitution C T intron_variant COAD-US 17 60813653 60813653 single base substitution C T missense_variant E394K 1180G>A COAD-US 17 60813653 60813653 single base substitution C T missense_variant E525K 1573G>A COAD-US 17 60813653 60813653 single base substitution C T missense_variant E526K 1576G>A COAD-US 17 60813653 60813653 single base substitution C T missense_variant E564K 1690G>A COAD-US 17 60813847 60813847 single base substitution G T missense_variant S11Y 32C>A COAD-US 17 60813847 60813847 single base substitution G T missense_variant S329Y 986C>A COAD-US 17 60813847 60813847 single base substitution G T missense_variant S460Y 1379C>A COAD-US 17 60813847 60813847 single base substitution G T missense_variant S461Y 1382C>A COAD-US 17 60813847 60813847 single base substitution G T missense_variant S499Y 1496C>A COAD-US 17 60814024 60814024 single base substitution G A missense_variant S270L 809C>T COAD-US 17 60814024 60814024 single base substitution G A missense_variant S401L 1202C>T COAD-US 17 60814024 60814024 single base substitution G A missense_variant S402L 1205C>T COAD-US 17 60814024 60814024 single base substitution G A missense_variant S440L 1319C>T COAD-US 17 60814024 60814024 single base substitution G A upstream_gene_variant COAD-US 17 60814041 60814041 single base substitution C T synonymous_variant A264A 792G>A COAD-US 17 60814041 60814041 single base substitution C T synonymous_variant A395A 1185G>A COAD-US 17 60814041 60814041 single base substitution C T synonymous_variant A396A 1188G>A COAD-US 17 60814041 60814041 single base substitution C T synonymous_variant A434A 1302G>A COAD-US 17 60814041 60814041 single base substitution C T upstream_gene_variant COAD-US 17 60814114 60814114 single base substitution C A missense_variant R240M 719G>T COAD-US 17 60814114 60814114 single base substitution C A missense_variant R371M 1112G>T COAD-US 17 60814114 60814114 single base substitution C A missense_variant R372M 1115G>T COAD-US 17 60814114 60814114 single base substitution C A missense_variant R410M 1229G>T COAD-US 17 60814114 60814114 single base substitution C A upstream_gene_variant COAD-US 17 60814123 60814123 single base substitution G A missense_variant A237V 710C>T COAD-US 17 60814123 60814123 single base substitution G A missense_variant A368V 1103C>T COAD-US 17 60814123 60814123 single base substitution G A missense_variant A369V 1106C>T COAD-US 17 60814123 60814123 single base substitution G A missense_variant A407V 1220C>T COAD-US 17 60814123 60814123 single base substitution G A upstream_gene_variant COAD-US 17 60814273 60814273 single base substitution A G missense_variant F187S 560T>C COAD-US 17 60814273 60814273 single base substitution A G missense_variant F318S 953T>C COAD-US 17 60814273 60814273 single base substitution A G missense_variant F319S 956T>C COAD-US 17 60814273 60814273 single base substitution A G missense_variant F357S 1070T>C COAD-US 17 60814273 60814273 single base substitution A G upstream_gene_variant COAD-US 17 60814414 60814414 single base substitution C T missense_variant R140Q 419G>A COAD-US 17 60814414 60814414 single base substitution C T missense_variant R271Q 812G>A COAD-US 17 60814414 60814414 single base substitution C T missense_variant R272Q 815G>A COAD-US 17 60814414 60814414 single base substitution C T missense_variant R310Q 929G>A COAD-US 17 60814414 60814414 single base substitution C T upstream_gene_variant COAD-US 17 60814474 60814474 single base substitution G A missense_variant S120L 359C>T COAD-US 17 60814474 60814474 single base substitution G A missense_variant S251L 752C>T COAD-US 17 60814474 60814474 single base substitution G A missense_variant S252L 755C>T COAD-US 17 60814474 60814474 single base substitution G A missense_variant S290L 869C>T COAD-US 17 60814474 60814474 single base substitution G A upstream_gene_variant COAD-US 17 60865930 60865930 single base substitution C A exon_variant COAD-US 17 60865930 60865930 single base substitution C A missense_variant D41Y 121G>T COCA-CN 17 60778932 60778932 single base substitution G A 3_prime_UTR_variant COCA-CN 17 60778932 60778932 single base substitution G A downstream_gene_variant COCA-CN 17 60778932 60778932 single base substitution G A exon_variant COCA-CN 17 60778932 60778932 single base substitution G A intron_variant COCA-CN 17 60779186 60779186 single base substitution C T downstream_gene_variant COCA-CN 17 60779186 60779186 single base substitution C T intron_variant COCA-CN 17 60799793 60799793 single base substitution G A intron_variant COCA-CN 17 60799974 60799974 single base substitution G T intron_variant COCA-CN 17 60800091 60800091 single base substitution C T intron_variant COCA-CN 17 60813228 60813228 single base substitution G A intron_variant COCA-CN 17 60813420 60813420 single base substitution G A intron_variant COCA-CN 17 60813420 60813420 single base substitution G A synonymous_variant F471F 1413C>T COCA-CN 17 60813420 60813420 single base substitution G A synonymous_variant F602F 1806C>T COCA-CN 17 60813420 60813420 single base substitution G A synonymous_variant F603F 1809C>T COCA-CN 17 60813420 60813420 single base substitution G A synonymous_variant F641F 1923C>T COCA-CN 17 60813754 60813754 single base substitution G T stop_gained S360* 1079C>A COCA-CN 17 60813754 60813754 single base substitution G T stop_gained S42* 125C>A COCA-CN 17 60813754 60813754 single base substitution G T stop_gained S491* 1472C>A COCA-CN 17 60813754 60813754 single base substitution G T stop_gained S492* 1475C>A COCA-CN 17 60813754 60813754 single base substitution G T stop_gained S530* 1589C>A COCA-CN 17 60814476 60814476 single base substitution G T missense_variant F119L 357C>A COCA-CN 17 60814476 60814476 single base substitution G T missense_variant F250L 750C>A COCA-CN 17 60814476 60814476 single base substitution G T missense_variant F251L 753C>A COCA-CN 17 60814476 60814476 single base substitution G T missense_variant F289L 867C>A COCA-CN 17 60814476 60814476 single base substitution G T upstream_gene_variant COCA-CN 17 60821869 60821869 single base substitution A C missense_variant L134V 400T>G COCA-CN 17 60821869 60821869 single base substitution A C missense_variant L135V 403T>G COCA-CN 17 60821869 60821869 single base substitution A C missense_variant L173V 517T>G COCA-CN 17 60821869 60821869 single base substitution A C missense_variant L3V 7T>G COCA-CN 17 60865967 60865967 single base substitution A G intron_variant COCA-CN 17 60865967 60865967 single base substitution A G splice_region_variant COCA-CN 17 60866040 60866040 single base substitution G A intron_variant EOPC-DE 17 60859034 60859034 single base substitution T C intron_variant EOPC-DE 17 60870518 60870518 single base substitution T C intron_variant EOPC-DE 17 60876186 60876186 single base substitution G A intron_variant ESAD-UK 17 60774031 60774031 single base substitution C T downstream_gene_variant ESAD-UK 17 60774077 60774077 single base substitution G A downstream_gene_variant ESAD-UK 17 60774476 60774476 single base substitution A G downstream_gene_variant ESAD-UK 17 60775243 60775243 single base substitution T G downstream_gene_variant ESAD-UK 17 60777047 60777047 single base substitution G A downstream_gene_variant ESAD-UK 17 60782695 60782695 single base substitution A G 3_prime_UTR_variant ESAD-UK 17 60782695 60782695 single base substitution A G intron_variant ESAD-UK 17 60782695 60782695 single base substitution A G upstream_gene_variant ESAD-UK 17 60783041 60783041 single base substitution T G intron_variant ESAD-UK 17 60783041 60783041 single base substitution T G upstream_gene_variant ESAD-UK 17 60786837 60786837 deletion of <=200bp A - intron_variant ESAD-UK 17 60787522 60787522 single base substitution G A intron_variant ESAD-UK 17 60789119 60789119 single base substitution G C intron_variant ESAD-UK 17 60789341 60789341 single base substitution C A intron_variant ESAD-UK 17 60793296 60793296 single base substitution C T intron_variant ESAD-UK 17 60793738 60793738 single base substitution A G intron_variant ESAD-UK 17 60793897 60793897 single base substitution C A intron_variant ESAD-UK 17 60794195 60794195 single base substitution A G intron_variant ESAD-UK 17 60798726 60798726 single base substitution T C intron_variant ESAD-UK 17 60801264 60801264 single base substitution A G intron_variant ESAD-UK 17 60801449 60801449 single base substitution G T intron_variant ESAD-UK 17 60802337 60802337 single base substitution T A intron_variant ESAD-UK 17 60802337 60802337 single base substitution T A missense_variant E557V 1670A>T ESAD-UK 17 60802337 60802337 single base substitution T A missense_variant E688V 2063A>T ESAD-UK 17 60802337 60802337 single base substitution T A missense_variant E689V 2066A>T ESAD-UK 17 60802337 60802337 single base substitution T A missense_variant E727V 2180A>T ESAD-UK 17 60804247 60804247 single base substitution C T intron_variant ESAD-UK 17 60804638 60804638 single base substitution T A intron_variant ESAD-UK 17 60805275 60805275 single base substitution A G intron_variant ESAD-UK 17 60808027 60808027 single base substitution C T intron_variant ESAD-UK 17 60809896 60809896 single base substitution C T intron_variant ESAD-UK 17 60811971 60811972 deletion of <=200bp AA - intron_variant ESAD-UK 17 60813519 60813519 single base substitution C A intron_variant ESAD-UK 17 60813519 60813519 single base substitution C A missense_variant L438F 1314G>T ESAD-UK 17 60813519 60813519 single base substitution C A missense_variant L569F 1707G>T ESAD-UK 17 60813519 60813519 single base substitution C A missense_variant L570F 1710G>T ESAD-UK 17 60813519 60813519 single base substitution C A missense_variant L608F 1824G>T ESAD-UK 17 60813545 60813545 single base substitution G T intron_variant ESAD-UK 17 60813545 60813545 single base substitution G T missense_variant L430I 1288C>A ESAD-UK 17 60813545 60813545 single base substitution G T missense_variant L561I 1681C>A ESAD-UK 17 60813545 60813545 single base substitution G T missense_variant L562I 1684C>A ESAD-UK 17 60813545 60813545 single base substitution G T missense_variant L600I 1798C>A ESAD-UK 17 60814260 60814260 single base substitution C T synonymous_variant S191S 573G>A ESAD-UK 17 60814260 60814260 single base substitution C T synonymous_variant S322S 966G>A ESAD-UK 17 60814260 60814260 single base substitution C T synonymous_variant S323S 969G>A ESAD-UK 17 60814260 60814260 single base substitution C T synonymous_variant S361S 1083G>A ESAD-UK 17 60814260 60814260 single base substitution C T upstream_gene_variant ESAD-UK 17 60816575 60816575 single base substitution G A intron_variant ESAD-UK 17 60816575 60816575 single base substitution G A upstream_gene_variant ESAD-UK 17 60817038 60817038 single base substitution G A intron_variant ESAD-UK 17 60817038 60817038 single base substitution G A upstream_gene_variant ESAD-UK 17 60818015 60818015 single base substitution C T intron_variant ESAD-UK 17 60818015 60818015 single base substitution C T upstream_gene_variant ESAD-UK 17 60819537 60819537 single base substitution C T intron_variant ESAD-UK 17 60820579 60820579 single base substitution C A intron_variant ESAD-UK 17 60823414 60823414 single base substitution C A downstream_gene_variant ESAD-UK 17 60823414 60823414 single base substitution C A intron_variant ESAD-UK 17 60823414 60823414 single base substitution C A upstream_gene_variant ESAD-UK 17 60823793 60823793 single base substitution A T downstream_gene_variant ESAD-UK 17 60823793 60823793 single base substitution A T intron_variant ESAD-UK 17 60823793 60823793 single base substitution A T upstream_gene_variant ESAD-UK 17 60824433 60824433 single base substitution C T downstream_gene_variant ESAD-UK 17 60824433 60824433 single base substitution C T intron_variant ESAD-UK 17 60824433 60824433 single base substitution C T upstream_gene_variant ESAD-UK 17 60824985 60824985 single base substitution T G downstream_gene_variant ESAD-UK 17 60824985 60824985 single base substitution T G intron_variant ESAD-UK 17 60824985 60824985 single base substitution T G upstream_gene_variant ESAD-UK 17 60825202 60825202 single base substitution C G downstream_gene_variant ESAD-UK 17 60825202 60825202 single base substitution C G intron_variant ESAD-UK 17 60825202 60825202 single base substitution C G upstream_gene_variant ESAD-UK 17 60825592 60825592 single base substitution A G downstream_gene_variant ESAD-UK 17 60825592 60825592 single base substitution A G intron_variant ESAD-UK 17 60825592 60825592 single base substitution A G upstream_gene_variant ESAD-UK 17 60826575 60826575 single base substitution A T downstream_gene_variant ESAD-UK 17 60826575 60826575 single base substitution A T intron_variant ESAD-UK 17 60826575 60826575 single base substitution A T upstream_gene_variant ESAD-UK 17 60828469 60828469 single base substitution C T intron_variant ESAD-UK 17 60835355 60835355 single base substitution C T intron_variant ESAD-UK 17 60838224 60838224 single base substitution G A intron_variant ESAD-UK 17 60838224 60838224 single base substitution G A upstream_gene_variant ESAD-UK 17 60842201 60842201 single base substitution G A intron_variant ESAD-UK 17 60842201 60842201 single base substitution G A upstream_gene_variant ESAD-UK 17 60842621 60842621 single base substitution G A intron_variant ESAD-UK 17 60847205 60847205 single base substitution G A intron_variant ESAD-UK 17 60848134 60848134 single base substitution T C intron_variant ESAD-UK 17 60848677 60848677 single base substitution C T intron_variant ESAD-UK 17 60852580 60852580 single base substitution G A intron_variant ESAD-UK 17 60854104 60854104 single base substitution T G downstream_gene_variant ESAD-UK 17 60854104 60854104 single base substitution T G intron_variant ESAD-UK 17 60856944 60856944 single base substitution C G downstream_gene_variant ESAD-UK 17 60856944 60856944 single base substitution C G intron_variant ESAD-UK 17 60857864 60857864 single base substitution C T downstream_gene_variant ESAD-UK 17 60857864 60857864 single base substitution C T intron_variant ESAD-UK 17 60859115 60859115 single base substitution C T intron_variant ESAD-UK 17 60859865 60859865 single base substitution C T intron_variant ESAD-UK 17 60860009 60860009 single base substitution C T intron_variant ESAD-UK 17 60865781 60865781 insertion of <=200bp - C downstream_gene_variant ESAD-UK 17 60865781 60865781 insertion of <=200bp - C intron_variant ESAD-UK 17 60865910 60865910 single base substitution G A exon_variant ESAD-UK 17 60865910 60865910 single base substitution G A synonymous_variant R47R 141C>T ESAD-UK 17 60867549 60867549 insertion of <=200bp - C intron_variant ESAD-UK 17 60869787 60869787 single base substitution T A intron_variant ESAD-UK 17 60872502 60872502 single base substitution G A intron_variant ESAD-UK 17 60872508 60872508 single base substitution C T intron_variant ESAD-UK 17 60873731 60873731 insertion of <=200bp - A intron_variant ESAD-UK 17 60874177 60874177 single base substitution C T intron_variant ESAD-UK 17 60874179 60874179 single base substitution C T intron_variant ESAD-UK 17 60874872 60874872 single base substitution T A intron_variant ESAD-UK 17 60884248 60884253 deletion of <=200bp AATAAC - intron_variant ESAD-UK 17 60884248 60884253 deletion of <=200bp AATAAC - upstream_gene_variant ESAD-UK 17 60884974 60884974 single base substitution C T intron_variant ESAD-UK 17 60884974 60884974 single base substitution C T upstream_gene_variant ESAD-UK 17 60885251 60885251 single base substitution G A intron_variant ESAD-UK 17 60885251 60885251 single base substitution G A upstream_gene_variant ESAD-UK 17 60888585 60888585 single base substitution C A upstream_gene_variant ESCA-CN 17 60813446 60813446 single base substitution G C intron_variant ESCA-CN 17 60813446 60813446 single base substitution G C missense_variant L463V 1387C>G ESCA-CN 17 60813446 60813446 single base substitution G C missense_variant L594V 1780C>G ESCA-CN 17 60813446 60813446 single base substitution G C missense_variant L595V 1783C>G ESCA-CN 17 60813446 60813446 single base substitution G C missense_variant L633V 1897C>G ESCA-CN 17 60865870 60865870 single base substitution G A exon_variant ESCA-CN 17 60865870 60865870 single base substitution G A missense_variant R61W 181C>T GBM-US 17 60865912 60865912 single base substitution G A exon_variant GBM-US 17 60865912 60865912 single base substitution G A missense_variant R47C 139C>T GBM-US 17 60879073 60879073 single base substitution C A exon_variant GBM-US 17 60879073 60879073 single base substitution C A missense_variant R8S 24G>T KIRC-US 17 60802312 60802312 single base substitution C A intron_variant KIRC-US 17 60802312 60802312 single base substitution C A synonymous_variant V565V 1695G>T KIRC-US 17 60802312 60802312 single base substitution C A synonymous_variant V696V 2088G>T KIRC-US 17 60802312 60802312 single base substitution C A synonymous_variant V697V 2091G>T KIRC-US 17 60802312 60802312 single base substitution C A synonymous_variant V735V 2205G>T KIRC-US 17 60813347 60813347 single base substitution T A intron_variant KIRC-US 17 60813347 60813347 single base substitution T A stop_gained K496* 1486A>T KIRC-US 17 60813347 60813347 single base substitution T A stop_gained K627* 1879A>T KIRC-US 17 60813347 60813347 single base substitution T A stop_gained K628* 1882A>T KIRC-US 17 60813347 60813347 single base substitution T A stop_gained K666* 1996A>T KIRC-US 17 60814440 60814440 single base substitution C A synonymous_variant G131G 393G>T KIRC-US 17 60814440 60814440 single base substitution C A synonymous_variant G262G 786G>T KIRC-US 17 60814440 60814440 single base substitution C A synonymous_variant G263G 789G>T KIRC-US 17 60814440 60814440 single base substitution C A synonymous_variant G301G 903G>T KIRC-US 17 60814440 60814440 single base substitution C A upstream_gene_variant KIRC-US 17 60814441 60814441 single base substitution C G missense_variant G131A 392G>C KIRC-US 17 60814441 60814441 single base substitution C G missense_variant G262A 785G>C KIRC-US 17 60814441 60814441 single base substitution C G missense_variant G263A 788G>C KIRC-US 17 60814441 60814441 single base substitution C G missense_variant G301A 902G>C KIRC-US 17 60814441 60814441 single base substitution C G upstream_gene_variant LGG-US 17 60879010 60879010 single base substitution A G exon_variant LGG-US 17 60879010 60879010 single base substitution A G synonymous_variant Y29Y 87T>C LICA-CN 17 60802426 60802426 single base substitution A G intron_variant LICA-CN 17 60802426 60802426 single base substitution A G synonymous_variant C527C 1581T>C LICA-CN 17 60802426 60802426 single base substitution A G synonymous_variant C658C 1974T>C LICA-CN 17 60802426 60802426 single base substitution A G synonymous_variant C659C 1977T>C LICA-CN 17 60802426 60802426 single base substitution A G synonymous_variant C697C 2091T>C LICA-CN 17 60813373 60813373 single base substitution A T intron_variant LICA-CN 17 60813373 60813373 single base substitution A T missense_variant M487K 1460T>A LICA-CN 17 60813373 60813373 single base substitution A T missense_variant M618K 1853T>A LICA-CN 17 60813373 60813373 single base substitution A T missense_variant M619K 1856T>A LICA-CN 17 60813373 60813373 single base substitution A T missense_variant M657K 1970T>A LICA-CN 17 60813911 60813911 single base substitution A T missense_variant W308R 922T>A LICA-CN 17 60813911 60813911 single base substitution A T missense_variant W439R 1315T>A LICA-CN 17 60813911 60813911 single base substitution A T missense_variant W440R 1318T>A LICA-CN 17 60813911 60813911 single base substitution A T missense_variant W478R 1432T>A LICA-CN 17 60813911 60813911 single base substitution A T upstream_gene_variant LICA-FR 17 60786583 60786583 single base substitution G T intron_variant LICA-FR 17 60787287 60787287 single base substitution A T intron_variant LICA-FR 17 60787755 60787755 single base substitution G C intron_variant LICA-FR 17 60794657 60794657 single base substitution C A intron_variant LICA-FR 17 60811884 60811884 single base substitution G T intron_variant LICA-FR 17 60813451 60813451 single base substitution C T intron_variant LICA-FR 17 60813451 60813451 single base substitution C T missense_variant G461E 1382G>A LICA-FR 17 60813451 60813451 single base substitution C T missense_variant G592E 1775G>A LICA-FR 17 60813451 60813451 single base substitution C T missense_variant G593E 1778G>A LICA-FR 17 60813451 60813451 single base substitution C T missense_variant G631E 1892G>A LICA-FR 17 60813698 60813698 single base substitution G C intron_variant LICA-FR 17 60813698 60813698 single base substitution G C missense_variant Q379E 1135C>G LICA-FR 17 60813698 60813698 single base substitution G C missense_variant Q510E 1528C>G LICA-FR 17 60813698 60813698 single base substitution G C missense_variant Q511E 1531C>G LICA-FR 17 60813698 60813698 single base substitution G C missense_variant Q549E 1645C>G LICA-FR 17 60831691 60831691 single base substitution C T intron_variant LICA-FR 17 60845027 60845027 single base substitution G T intron_variant LICA-FR 17 60870191 60870191 single base substitution T C intron_variant LICA-FR 17 60879868 60879868 insertion of <=200bp - A intron_variant LINC-JP 17 60778128 60778128 single base substitution C T downstream_gene_variant LINC-JP 17 60782879 60782879 single base substitution G T intron_variant LINC-JP 17 60782879 60782879 single base substitution G T missense_variant L797M 2389C>A LINC-JP 17 60782879 60782879 single base substitution G T upstream_gene_variant LINC-JP 17 60785660 60785660 single base substitution G A intron_variant LINC-JP 17 60785660 60785660 single base substitution G A upstream_gene_variant LINC-JP 17 60786449 60786449 single base substitution G A intron_variant LINC-JP 17 60788758 60788758 single base substitution A G intron_variant LINC-JP 17 60791679 60791679 single base substitution A G intron_variant LINC-JP 17 60799738 60799738 single base substitution C G intron_variant LINC-JP 17 60802126 60802126 single base substitution C T intron_variant LINC-JP 17 60803272 60803272 single base substitution G A intron_variant LINC-JP 17 60803881 60803881 single base substitution T C intron_variant LINC-JP 17 60808145 60808145 single base substitution C T intron_variant LINC-JP 17 60808673 60808673 single base substitution G A intron_variant LINC-JP 17 60808956 60808956 single base substitution A C intron_variant LINC-JP 17 60813693 60813693 single base substitution T C intron_variant LINC-JP 17 60813693 60813693 single base substitution T C synonymous_variant P380P 1140A>G LINC-JP 17 60813693 60813693 single base substitution T C synonymous_variant P511P 1533A>G LINC-JP 17 60813693 60813693 single base substitution T C synonymous_variant P512P 1536A>G LINC-JP 17 60813693 60813693 single base substitution T C synonymous_variant P550P 1650A>G LINC-JP 17 60813737 60813737 single base substitution T A missense_variant S366C 1096A>T LINC-JP 17 60813737 60813737 single base substitution T A missense_variant S48C 142A>T LINC-JP 17 60813737 60813737 single base substitution T A missense_variant S497C 1489A>T LINC-JP 17 60813737 60813737 single base substitution T A missense_variant S498C 1492A>T LINC-JP 17 60813737 60813737 single base substitution T A missense_variant S536C 1606A>T LINC-JP 17 60825798 60825798 single base substitution A C downstream_gene_variant LINC-JP 17 60825798 60825798 single base substitution A C intron_variant LINC-JP 17 60825798 60825798 single base substitution A C upstream_gene_variant LINC-JP 17 60826928 60826928 single base substitution G A downstream_gene_variant LINC-JP 17 60826928 60826928 single base substitution G A intron_variant LINC-JP 17 60836423 60836423 single base substitution G T intron_variant LINC-JP 17 60865684 60865684 single base substitution G A downstream_gene_variant LINC-JP 17 60865684 60865684 single base substitution G A intron_variant LINC-JP 17 60869677 60869677 single base substitution T C intron_variant LINC-JP 17 60869690 60869690 single base substitution C T intron_variant LINC-JP 17 60876866 60876866 single base substitution T C intron_variant LINC-JP 17 60878876 60878876 single base substitution G A intron_variant LIRI-JP 17 60773831 60773831 single base substitution G A downstream_gene_variant LIRI-JP 17 60774370 60774370 single base substitution G A downstream_gene_variant LIRI-JP 17 60775183 60775183 single base substitution A C downstream_gene_variant LIRI-JP 17 60775400 60775400 single base substitution T A downstream_gene_variant LIRI-JP 17 60775889 60775889 single base substitution G A downstream_gene_variant LIRI-JP 17 60777239 60777239 single base substitution G A downstream_gene_variant LIRI-JP 17 60779207 60779207 single base substitution T G downstream_gene_variant LIRI-JP 17 60779207 60779207 single base substitution T G intron_variant LIRI-JP 17 60779968 60779968 single base substitution A G downstream_gene_variant LIRI-JP 17 60779968 60779968 single base substitution A G intron_variant LIRI-JP 17 60780190 60780190 single base substitution C T downstream_gene_variant LIRI-JP 17 60780190 60780190 single base substitution C T intron_variant LIRI-JP 17 60780365 60780365 single base substitution C A downstream_gene_variant LIRI-JP 17 60780365 60780365 single base substitution C A intron_variant LIRI-JP 17 60785992 60785992 single base substitution G T intron_variant LIRI-JP 17 60786313 60786313 single base substitution C A intron_variant LIRI-JP 17 60786880 60786880 single base substitution C A intron_variant LIRI-JP 17 60790366 60790366 single base substitution A G intron_variant LIRI-JP 17 60791113 60791113 single base substitution C T intron_variant LIRI-JP 17 60791595 60791595 single base substitution A G intron_variant LIRI-JP 17 60792390 60792390 single base substitution G T intron_variant LIRI-JP 17 60792467 60792467 single base substitution A G intron_variant LIRI-JP 17 60792545 60792545 single base substitution C T intron_variant LIRI-JP 17 60793902 60793902 single base substitution C T intron_variant LIRI-JP 17 60795210 60795210 single base substitution T A intron_variant LIRI-JP 17 60796381 60796381 single base substitution G T intron_variant LIRI-JP 17 60797372 60797372 single base substitution A G intron_variant LIRI-JP 17 60800060 60800060 single base substitution A T intron_variant LIRI-JP 17 60801857 60801857 single base substitution G A intron_variant LIRI-JP 17 60803490 60803490 single base substitution T G intron_variant LIRI-JP 17 60803627 60803627 single base substitution G A intron_variant LIRI-JP 17 60804239 60804239 single base substitution C G intron_variant LIRI-JP 17 60807284 60807284 single base substitution C A intron_variant LIRI-JP 17 60807862 60807862 single base substitution T C intron_variant LIRI-JP 17 60809704 60809704 single base substitution G A intron_variant LIRI-JP 17 60809888 60809888 single base substitution G T intron_variant LIRI-JP 17 60810079 60810079 single base substitution C T intron_variant LIRI-JP 17 60811563 60811563 single base substitution A T intron_variant LIRI-JP 17 60813115 60813115 single base substitution A G intron_variant LIRI-JP 17 60814050 60814050 single base substitution A G synonymous_variant S261S 783T>C LIRI-JP 17 60814050 60814050 single base substitution A G synonymous_variant S392S 1176T>C LIRI-JP 17 60814050 60814050 single base substitution A G synonymous_variant S393S 1179T>C LIRI-JP 17 60814050 60814050 single base substitution A G synonymous_variant S431S 1293T>C LIRI-JP 17 60814050 60814050 single base substitution A G upstream_gene_variant LIRI-JP 17 60815646 60815646 single base substitution T C intron_variant LIRI-JP 17 60815646 60815646 single base substitution T C upstream_gene_variant LIRI-JP 17 60816210 60816210 single base substitution T C intron_variant LIRI-JP 17 60816210 60816210 single base substitution T C upstream_gene_variant LIRI-JP 17 60816321 60816321 single base substitution A T intron_variant LIRI-JP 17 60816321 60816321 single base substitution A T upstream_gene_variant LIRI-JP 17 60818440 60818440 single base substitution T C intron_variant LIRI-JP 17 60818440 60818440 single base substitution T C upstream_gene_variant LIRI-JP 17 60818767 60818767 single base substitution A G intron_variant LIRI-JP 17 60818767 60818767 single base substitution A G upstream_gene_variant LIRI-JP 17 60819296 60819296 single base substitution T A intron_variant LIRI-JP 17 60819504 60819504 single base substitution C T intron_variant LIRI-JP 17 60819579 60819579 single base substitution C T intron_variant LIRI-JP 17 60819947 60819947 single base substitution A G intron_variant LIRI-JP 17 60820809 60820809 single base substitution G T intron_variant LIRI-JP 17 60821017 60821017 single base substitution A G intron_variant LIRI-JP 17 60822906 60822906 single base substitution T C downstream_gene_variant LIRI-JP 17 60822906 60822906 single base substitution T C intron_variant LIRI-JP 17 60822906 60822906 single base substitution T C upstream_gene_variant LIRI-JP 17 60822956 60822956 single base substitution A G downstream_gene_variant LIRI-JP 17 60822956 60822956 single base substitution A G intron_variant LIRI-JP 17 60822956 60822956 single base substitution A G upstream_gene_variant LIRI-JP 17 60823538 60823538 single base substitution T G downstream_gene_variant LIRI-JP 17 60823538 60823538 single base substitution T G intron_variant LIRI-JP 17 60823538 60823538 single base substitution T G upstream_gene_variant LIRI-JP 17 60824181 60824181 single base substitution A G downstream_gene_variant LIRI-JP 17 60824181 60824181 single base substitution A G intron_variant LIRI-JP 17 60824181 60824181 single base substitution A G upstream_gene_variant LIRI-JP 17 60824607 60824607 single base substitution T C downstream_gene_variant LIRI-JP 17 60824607 60824607 single base substitution T C intron_variant LIRI-JP 17 60824607 60824607 single base substitution T C upstream_gene_variant LIRI-JP 17 60825798 60825798 single base substitution A C downstream_gene_variant LIRI-JP 17 60825798 60825798 single base substitution A C intron_variant LIRI-JP 17 60825798 60825798 single base substitution A C upstream_gene_variant LIRI-JP 17 60827044 60827044 single base substitution G A downstream_gene_variant LIRI-JP 17 60827044 60827044 single base substitution G A intron_variant LIRI-JP 17 60827206 60827206 single base substitution C A downstream_gene_variant LIRI-JP 17 60827206 60827206 single base substitution C A intron_variant LIRI-JP 17 60829250 60829250 single base substitution G T intron_variant LIRI-JP 17 60830570 60830570 single base substitution C T intron_variant LIRI-JP 17 60833510 60833510 single base substitution G A intron_variant LIRI-JP 17 60833517 60833517 single base substitution G A intron_variant LIRI-JP 17 60833519 60833519 single base substitution T G intron_variant LIRI-JP 17 60834594 60834594 single base substitution G A intron_variant LIRI-JP 17 60834696 60834696 single base substitution C G intron_variant LIRI-JP 17 60834895 60834895 single base substitution C A intron_variant LIRI-JP 17 60834896 60834896 single base substitution C A intron_variant LIRI-JP 17 60835305 60835305 single base substitution G T intron_variant LIRI-JP 17 60835306 60835306 single base substitution A T intron_variant LIRI-JP 17 60837933 60837933 single base substitution G A intron_variant LIRI-JP 17 60837933 60837933 single base substitution G A upstream_gene_variant LIRI-JP 17 60839578 60839578 single base substitution C G intron_variant LIRI-JP 17 60839578 60839578 single base substitution C G upstream_gene_variant LIRI-JP 17 60840056 60840056 single base substitution C T intron_variant LIRI-JP 17 60840056 60840056 single base substitution C T upstream_gene_variant LIRI-JP 17 60840479 60840479 single base substitution G C intron_variant LIRI-JP 17 60840479 60840479 single base substitution G C upstream_gene_variant LIRI-JP 17 60841677 60841677 single base substitution C A intron_variant LIRI-JP 17 60841677 60841677 single base substitution C A upstream_gene_variant LIRI-JP 17 60844052 60844052 deletion of <=200bp C - intron_variant LIRI-JP 17 60846913 60846913 single base substitution T C intron_variant LIRI-JP 17 60847055 60847055 single base substitution G A intron_variant LIRI-JP 17 60847122 60847122 single base substitution G A intron_variant LIRI-JP 17 60848661 60848661 single base substitution T C intron_variant LIRI-JP 17 60850986 60850986 single base substitution A G intron_variant LIRI-JP 17 60851100 60851100 single base substitution G A intron_variant LIRI-JP 17 60853310 60853310 single base substitution G A downstream_gene_variant LIRI-JP 17 60853310 60853310 single base substitution G A intron_variant LIRI-JP 17 60853891 60853891 single base substitution G C downstream_gene_variant LIRI-JP 17 60853891 60853891 single base substitution G C intron_variant LIRI-JP 17 60854795 60854795 single base substitution A G downstream_gene_variant LIRI-JP 17 60854795 60854795 single base substitution A G intron_variant LIRI-JP 17 60855003 60855003 single base substitution C A downstream_gene_variant LIRI-JP 17 60855003 60855003 single base substitution C A intron_variant LIRI-JP 17 60855919 60855919 single base substitution C G downstream_gene_variant LIRI-JP 17 60855919 60855919 single base substitution C G intron_variant LIRI-JP 17 60857410 60857410 single base substitution A T downstream_gene_variant LIRI-JP 17 60857410 60857410 single base substitution A T intron_variant LIRI-JP 17 60857548 60857548 single base substitution G C downstream_gene_variant LIRI-JP 17 60857548 60857548 single base substitution G C intron_variant LIRI-JP 17 60858467 60858467 single base substitution T C intron_variant LIRI-JP 17 60858717 60858717 single base substitution G A intron_variant LIRI-JP 17 60859326 60859326 single base substitution A G intron_variant LIRI-JP 17 60859553 60859553 single base substitution T C intron_variant LIRI-JP 17 60859573 60859573 single base substitution T C intron_variant LIRI-JP 17 60860305 60860305 single base substitution T C intron_variant LIRI-JP 17 60860758 60860758 single base substitution G A intron_variant LIRI-JP 17 60861530 60861530 single base substitution A G downstream_gene_variant LIRI-JP 17 60861530 60861530 single base substitution A G intron_variant LIRI-JP 17 60862216 60862216 single base substitution C G downstream_gene_variant LIRI-JP 17 60862216 60862216 single base substitution C G intron_variant LIRI-JP 17 60863333 60863333 single base substitution G A downstream_gene_variant LIRI-JP 17 60863333 60863333 single base substitution G A intron_variant LIRI-JP 17 60863392 60863392 single base substitution G T downstream_gene_variant LIRI-JP 17 60863392 60863392 single base substitution G T intron_variant LIRI-JP 17 60863857 60863857 single base substitution C G downstream_gene_variant LIRI-JP 17 60863857 60863857 single base substitution C G intron_variant LIRI-JP 17 60864606 60864606 single base substitution T C downstream_gene_variant LIRI-JP 17 60864606 60864606 single base substitution T C intron_variant LIRI-JP 17 60864861 60864861 single base substitution A G downstream_gene_variant LIRI-JP 17 60864861 60864861 single base substitution A G intron_variant LIRI-JP 17 60865242 60865242 single base substitution C A downstream_gene_variant LIRI-JP 17 60865242 60865242 single base substitution C A intron_variant LIRI-JP 17 60866629 60866629 single base substitution T G intron_variant LIRI-JP 17 60866958 60866958 single base substitution A G intron_variant LIRI-JP 17 60867179 60867179 single base substitution C A intron_variant LIRI-JP 17 60867562 60867562 single base substitution A G intron_variant LIRI-JP 17 60872231 60872231 single base substitution C T intron_variant LIRI-JP 17 60873906 60873906 single base substitution G C intron_variant LIRI-JP 17 60875862 60875862 single base substitution C G intron_variant LIRI-JP 17 60875972 60875972 single base substitution G T intron_variant LIRI-JP 17 60876512 60876512 single base substitution G A intron_variant LIRI-JP 17 60876548 60876548 single base substitution G A intron_variant LIRI-JP 17 60878246 60878246 single base substitution G A intron_variant LIRI-JP 17 60879555 60879555 single base substitution A G intron_variant LIRI-JP 17 60883108 60883108 single base substitution A T intron_variant LIRI-JP 17 60883329 60883329 single base substitution C G intron_variant LIRI-JP 17 60885890 60885890 single base substitution G C upstream_gene_variant LIRI-JP 17 60888889 60888889 single base substitution C A upstream_gene_variant LIRI-JP 17 60889371 60889371 single base substitution A T upstream_gene_variant LUSC-KR 17 60776943 60776943 single base substitution G T downstream_gene_variant LUSC-KR 17 60781380 60781380 single base substitution G T downstream_gene_variant LUSC-KR 17 60781380 60781380 single base substitution G T intron_variant LUSC-KR 17 60781380 60781380 single base substitution G T upstream_gene_variant LUSC-KR 17 60791038 60791038 single base substitution G T intron_variant LUSC-KR 17 60793395 60793395 single base substitution C A intron_variant LUSC-KR 17 60799125 60799125 single base substitution G A intron_variant LUSC-KR 17 60802002 60802002 single base substitution C T intron_variant LUSC-KR 17 60802014 60802014 single base substitution C G intron_variant LUSC-KR 17 60804770 60804770 single base substitution C A intron_variant LUSC-KR 17 60808986 60808986 single base substitution G C intron_variant LUSC-KR 17 60811087 60811087 single base substitution G C intron_variant LUSC-KR 17 60814754 60814754 single base substitution T A intron_variant LUSC-KR 17 60814754 60814754 single base substitution T A upstream_gene_variant LUSC-KR 17 60816953 60816953 single base substitution G C intron_variant LUSC-KR 17 60816953 60816953 single base substitution G C upstream_gene_variant LUSC-KR 17 60818173 60818173 single base substitution G C intron_variant LUSC-KR 17 60818173 60818173 single base substitution G C upstream_gene_variant LUSC-KR 17 60818179 60818179 single base substitution G A intron_variant LUSC-KR 17 60818179 60818179 single base substitution G A upstream_gene_variant LUSC-KR 17 60825990 60825990 single base substitution G T downstream_gene_variant LUSC-KR 17 60825990 60825990 single base substitution G T intron_variant LUSC-KR 17 60825990 60825990 single base substitution G T upstream_gene_variant LUSC-KR 17 60828167 60828167 single base substitution C A intron_variant LUSC-KR 17 60838630 60838630 single base substitution A G intron_variant LUSC-KR 17 60838630 60838630 single base substitution A G upstream_gene_variant LUSC-KR 17 60841338 60841338 single base substitution C A intron_variant LUSC-KR 17 60841338 60841338 single base substitution C A upstream_gene_variant LUSC-KR 17 60844173 60844173 single base substitution G C intron_variant LUSC-KR 17 60846809 60846809 single base substitution C T intron_variant LUSC-KR 17 60851887 60851887 single base substitution G A intron_variant LUSC-KR 17 60859421 60859421 single base substitution C T intron_variant LUSC-KR 17 60870540 60870540 single base substitution T C intron_variant LUSC-KR 17 60870912 60870912 single base substitution T C intron_variant LUSC-KR 17 60871395 60871395 single base substitution C G intron_variant LUSC-KR 17 60871569 60871569 single base substitution C G intron_variant LUSC-KR 17 60886470 60886470 single base substitution C A upstream_gene_variant LUSC-KR 17 60886873 60886873 single base substitution C T upstream_gene_variant LUSC-US 17 60788625 60788625 single base substitution C G intron_variant LUSC-US 17 60788625 60788625 single base substitution C G missense_variant M633I 1899G>C LUSC-US 17 60788625 60788625 single base substitution C G missense_variant M764I 2292G>C LUSC-US 17 60788625 60788625 single base substitution C G missense_variant M765I 2295G>C LUSC-US 17 60788625 60788625 single base substitution C G missense_variant M803I 2409G>C LUSC-US 17 60813357 60813357 single base substitution G A intron_variant LUSC-US 17 60813357 60813357 single base substitution G A synonymous_variant F492F 1476C>T LUSC-US 17 60813357 60813357 single base substitution G A synonymous_variant F623F 1869C>T LUSC-US 17 60813357 60813357 single base substitution G A synonymous_variant F624F 1872C>T LUSC-US 17 60813357 60813357 single base substitution G A synonymous_variant F662F 1986C>T LUSC-US 17 60813646 60813646 single base substitution T C intron_variant LUSC-US 17 60813646 60813646 single base substitution T C missense_variant H396R 1187A>G LUSC-US 17 60813646 60813646 single base substitution T C missense_variant H527R 1580A>G LUSC-US 17 60813646 60813646 single base substitution T C missense_variant H528R 1583A>G LUSC-US 17 60813646 60813646 single base substitution T C missense_variant H566R 1697A>G LUSC-US 17 60814365 60814365 single base substitution G T missense_variant S156R 468C>A LUSC-US 17 60814365 60814365 single base substitution G T missense_variant S287R 861C>A LUSC-US 17 60814365 60814365 single base substitution G T missense_variant S288R 864C>A LUSC-US 17 60814365 60814365 single base substitution G T missense_variant S326R 978C>A LUSC-US 17 60814365 60814365 single base substitution G T upstream_gene_variant LUSC-US 17 60821758 60821758 single base substitution C A missense_variant V171L 511G>T LUSC-US 17 60821758 60821758 single base substitution C A missense_variant V172L 514G>T LUSC-US 17 60821758 60821758 single base substitution C A missense_variant V210L 628G>T LUSC-US 17 60821758 60821758 single base substitution C A missense_variant V40L 118G>T LUSC-US 17 60837244 60837244 single base substitution T C missense_variant M112V 334A>G LUSC-US 17 60837244 60837244 single base substitution T C missense_variant M37V 109A>G LUSC-US 17 60837358 60837358 single base substitution C T missense_variant E74K 220G>A LUSC-US 17 60837358 60837358 single base substitution C T upstream_gene_variant LUSC-US 17 60865910 60865910 single base substitution G C exon_variant LUSC-US 17 60865910 60865910 single base substitution G C synonymous_variant R47R 141C>G MALY-DE 17 60788266 60788266 single base substitution G A intron_variant MALY-DE 17 60788402 60788402 single base substitution C T intron_variant MALY-DE 17 60791289 60791289 single base substitution C G intron_variant MALY-DE 17 60791466 60791466 single base substitution G A intron_variant MALY-DE 17 60799677 60799677 single base substitution A C intron_variant MALY-DE 17 60802541 60802541 single base substitution T C intron_variant MALY-DE 17 60804732 60804732 single base substitution G A intron_variant MALY-DE 17 60804864 60804864 insertion of <=200bp - A intron_variant MALY-DE 17 60806038 60806038 deletion of <=200bp A - intron_variant MALY-DE 17 60807973 60807973 single base substitution C G intron_variant MALY-DE 17 60810843 60810843 single base substitution A C intron_variant MALY-DE 17 60811466 60811466 single base substitution A C intron_variant MALY-DE 17 60811795 60811795 single base substitution G A intron_variant MALY-DE 17 60812830 60812830 single base substitution C T intron_variant MALY-DE 17 60813300 60813300 single base substitution C T intron_variant MALY-DE 17 60813300 60813300 single base substitution C T synonymous_variant L511L 1533G>A MALY-DE 17 60813300 60813300 single base substitution C T synonymous_variant L642L 1926G>A MALY-DE 17 60813300 60813300 single base substitution C T synonymous_variant L643L 1929G>A MALY-DE 17 60813300 60813300 single base substitution C T synonymous_variant L681L 2043G>A MALY-DE 17 60817411 60817412 deletion of <=200bp GT - intron_variant MALY-DE 17 60817411 60817412 deletion of <=200bp GT - upstream_gene_variant MALY-DE 17 60819595 60819595 single base substitution G T intron_variant MALY-DE 17 60821653 60821653 deletion of <=200bp A - intron_variant MALY-DE 17 60828607 60828607 single base substitution G T intron_variant MALY-DE 17 60833858 60833858 deletion of <=200bp A - intron_variant MALY-DE 17 60839483 60839483 single base substitution T G intron_variant MALY-DE 17 60839483 60839483 single base substitution T G upstream_gene_variant MALY-DE 17 60840187 60840187 single base substitution G A intron_variant MALY-DE 17 60840187 60840187 single base substitution G A upstream_gene_variant MALY-DE 17 60846338 60846338 single base substitution C A intron_variant MALY-DE 17 60849046 60849046 single base substitution T G intron_variant MALY-DE 17 60850837 60850837 single base substitution A T intron_variant MALY-DE 17 60858388 60858388 single base substitution G A intron_variant MALY-DE 17 60859961 60859961 single base substitution C T intron_variant MALY-DE 17 60859965 60859965 single base substitution C A intron_variant MALY-DE 17 60865767 60865768 deletion of <=200bp CA - downstream_gene_variant MALY-DE 17 60865767 60865768 deletion of <=200bp CA - intron_variant MALY-DE 17 60867539 60867539 deletion of <=200bp T - intron_variant MALY-DE 17 60873600 60873600 single base substitution G A intron_variant MALY-DE 17 60876167 60876167 single base substitution C A intron_variant MALY-DE 17 60878890 60878890 single base substitution C T intron_variant MALY-DE 17 60880687 60880687 single base substitution T C intron_variant MALY-DE 17 60880890 60880890 insertion of <=200bp - T intron_variant MALY-DE 17 60881340 60881340 single base substitution A T intron_variant MALY-DE 17 60883282 60883282 single base substitution T A intron_variant MALY-DE 17 60886235 60886235 single base substitution T G upstream_gene_variant MALY-DE 17 60890413 60890413 deletion of <=200bp T - upstream_gene_variant MELA-AU 17 60773675 60773675 single base substitution G A downstream_gene_variant MELA-AU 17 60773696 60773696 single base substitution C A downstream_gene_variant MELA-AU 17 60774314 60774315 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 60774390 60774390 single base substitution G A downstream_gene_variant MELA-AU 17 60774430 60774430 single base substitution G A downstream_gene_variant MELA-AU 17 60774666 60774666 single base substitution G A downstream_gene_variant MELA-AU 17 60774990 60774990 single base substitution C T downstream_gene_variant MELA-AU 17 60774997 60774997 single base substitution G A downstream_gene_variant MELA-AU 17 60775127 60775127 single base substitution C T downstream_gene_variant MELA-AU 17 60775306 60775306 single base substitution G A downstream_gene_variant MELA-AU 17 60775339 60775339 single base substitution G A downstream_gene_variant MELA-AU 17 60776395 60776395 single base substitution G A downstream_gene_variant MELA-AU 17 60776640 60776640 single base substitution C T downstream_gene_variant MELA-AU 17 60777361 60777361 single base substitution C T downstream_gene_variant MELA-AU 17 60778202 60778202 single base substitution T C downstream_gene_variant MELA-AU 17 60778455 60778456 multiple base substitution (>=2bp and <=200bp) GG AC downstream_gene_variant MELA-AU 17 60778818 60778818 single base substitution C T 3_prime_UTR_variant MELA-AU 17 60778818 60778818 single base substitution C T downstream_gene_variant MELA-AU 17 60778818 60778818 single base substitution C T exon_variant MELA-AU 17 60778818 60778818 single base substitution C T intron_variant MELA-AU 17 60779036 60779037 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 17 60779036 60779037 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 60779036 60779037 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 17 60779036 60779037 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 60779036 60779037 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant R672Q 2015GG>AA MELA-AU 17 60779338 60779338 single base substitution C T downstream_gene_variant MELA-AU 17 60779338 60779338 single base substitution C T intron_variant MELA-AU 17 60779479 60779479 single base substitution G A downstream_gene_variant MELA-AU 17 60779479 60779479 single base substitution G A intron_variant MELA-AU 17 60780520 60780520 single base substitution G A downstream_gene_variant MELA-AU 17 60780520 60780520 single base substitution G A intron_variant MELA-AU 17 60780869 60780869 single base substitution C T downstream_gene_variant MELA-AU 17 60780869 60780869 single base substitution C T intron_variant MELA-AU 17 60780869 60780869 single base substitution C T upstream_gene_variant MELA-AU 17 60781021 60781021 single base substitution G A downstream_gene_variant MELA-AU 17 60781021 60781021 single base substitution G A intron_variant MELA-AU 17 60781021 60781021 single base substitution G A upstream_gene_variant MELA-AU 17 60781037 60781037 single base substitution G A downstream_gene_variant MELA-AU 17 60781037 60781037 single base substitution G A intron_variant MELA-AU 17 60781037 60781037 single base substitution G A upstream_gene_variant MELA-AU 17 60781138 60781138 single base substitution C T downstream_gene_variant MELA-AU 17 60781138 60781138 single base substitution C T intron_variant MELA-AU 17 60781138 60781138 single base substitution C T upstream_gene_variant MELA-AU 17 60781408 60781408 single base substitution G A downstream_gene_variant MELA-AU 17 60781408 60781408 single base substitution G A intron_variant MELA-AU 17 60781408 60781408 single base substitution G A upstream_gene_variant MELA-AU 17 60782030 60782030 single base substitution C T downstream_gene_variant MELA-AU 17 60782030 60782030 single base substitution C T intron_variant MELA-AU 17 60782030 60782030 single base substitution C T upstream_gene_variant MELA-AU 17 60782655 60782655 single base substitution C T 3_prime_UTR_variant MELA-AU 17 60782655 60782655 single base substitution C T intron_variant MELA-AU 17 60782655 60782655 single base substitution C T upstream_gene_variant MELA-AU 17 60783164 60783164 single base substitution G A intron_variant MELA-AU 17 60783164 60783164 single base substitution G A upstream_gene_variant MELA-AU 17 60784015 60784015 single base substitution C T intron_variant MELA-AU 17 60784015 60784015 single base substitution C T upstream_gene_variant MELA-AU 17 60784046 60784046 single base substitution C T intron_variant MELA-AU 17 60784046 60784046 single base substitution C T upstream_gene_variant MELA-AU 17 60784552 60784552 single base substitution C T intron_variant MELA-AU 17 60784552 60784552 single base substitution C T upstream_gene_variant MELA-AU 17 60784688 60784688 single base substitution C T intron_variant MELA-AU 17 60784688 60784688 single base substitution C T upstream_gene_variant MELA-AU 17 60784809 60784809 single base substitution C T intron_variant MELA-AU 17 60784809 60784809 single base substitution C T upstream_gene_variant MELA-AU 17 60785843 60785843 single base substitution G A intron_variant MELA-AU 17 60786070 60786070 single base substitution C T intron_variant MELA-AU 17 60786344 60786344 single base substitution G A intron_variant MELA-AU 17 60786522 60786522 single base substitution G A intron_variant MELA-AU 17 60786589 60786589 single base substitution C T intron_variant MELA-AU 17 60786712 60786712 single base substitution G A intron_variant MELA-AU 17 60786771 60786771 single base substitution G A intron_variant MELA-AU 17 60786899 60786899 single base substitution G A intron_variant MELA-AU 17 60787021 60787021 single base substitution G A intron_variant MELA-AU 17 60787577 60787577 single base substitution G T intron_variant MELA-AU 17 60787640 60787640 single base substitution G A intron_variant MELA-AU 17 60787994 60787994 single base substitution A G intron_variant MELA-AU 17 60788002 60788002 single base substitution C T intron_variant MELA-AU 17 60788029 60788029 single base substitution C T intron_variant MELA-AU 17 60788240 60788240 single base substitution G A intron_variant MELA-AU 17 60788753 60788753 single base substitution G A intron_variant MELA-AU 17 60789272 60789272 single base substitution C T intron_variant MELA-AU 17 60789345 60789345 single base substitution G A intron_variant MELA-AU 17 60789361 60789361 single base substitution G A intron_variant MELA-AU 17 60789415 60789415 single base substitution G A intron_variant MELA-AU 17 60789503 60789503 single base substitution C T intron_variant MELA-AU 17 60789565 60789565 single base substitution G A intron_variant MELA-AU 17 60789608 60789608 single base substitution G A intron_variant MELA-AU 17 60789692 60789692 single base substitution G A intron_variant MELA-AU 17 60789746 60789746 single base substitution C T intron_variant MELA-AU 17 60789886 60789886 single base substitution C T intron_variant MELA-AU 17 60789991 60789991 single base substitution C T intron_variant MELA-AU 17 60790190 60790190 single base substitution C T intron_variant MELA-AU 17 60790213 60790213 single base substitution C T intron_variant MELA-AU 17 60790299 60790299 single base substitution T C intron_variant MELA-AU 17 60790325 60790325 single base substitution C T intron_variant MELA-AU 17 60790326 60790326 single base substitution G A intron_variant MELA-AU 17 60791060 60791060 single base substitution G A intron_variant MELA-AU 17 60791099 60791099 single base substitution C A intron_variant MELA-AU 17 60791325 60791325 single base substitution G A intron_variant MELA-AU 17 60791615 60791616 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 60791711 60791711 single base substitution G A intron_variant MELA-AU 17 60791861 60791861 single base substitution A C intron_variant MELA-AU 17 60792078 60792078 single base substitution A C intron_variant MELA-AU 17 60792102 60792102 single base substitution C T intron_variant MELA-AU 17 60792110 60792110 single base substitution C T intron_variant MELA-AU 17 60792202 60792202 single base substitution G A intron_variant MELA-AU 17 60792297 60792297 single base substitution G A intron_variant MELA-AU 17 60792458 60792458 single base substitution G A intron_variant MELA-AU 17 60792629 60792629 single base substitution G A intron_variant MELA-AU 17 60792919 60792919 single base substitution C T intron_variant MELA-AU 17 60793251 60793251 single base substitution G A intron_variant MELA-AU 17 60793409 60793409 single base substitution C T intron_variant MELA-AU 17 60793574 60793574 single base substitution C T intron_variant MELA-AU 17 60793712 60793713 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 60793921 60793921 single base substitution T G intron_variant MELA-AU 17 60794077 60794077 single base substitution G A intron_variant MELA-AU 17 60794176 60794176 single base substitution C T intron_variant MELA-AU 17 60794351 60794351 single base substitution C T intron_variant MELA-AU 17 60794502 60794502 single base substitution C T intron_variant MELA-AU 17 60794820 60794820 single base substitution C T intron_variant MELA-AU 17 60794965 60794965 single base substitution C T intron_variant MELA-AU 17 60795075 60795075 single base substitution G A intron_variant MELA-AU 17 60795145 60795145 single base substitution C T intron_variant MELA-AU 17 60795152 60795152 single base substitution C T intron_variant MELA-AU 17 60795162 60795162 single base substitution T C intron_variant MELA-AU 17 60795449 60795449 single base substitution C A intron_variant MELA-AU 17 60795461 60795461 single base substitution C A intron_variant MELA-AU 17 60795494 60795494 single base substitution C T intron_variant MELA-AU 17 60795822 60795822 single base substitution G A intron_variant MELA-AU 17 60796240 60796240 single base substitution C T intron_variant MELA-AU 17 60796485 60796485 single base substitution G A intron_variant MELA-AU 17 60796503 60796503 single base substitution C T intron_variant MELA-AU 17 60796649 60796649 single base substitution G A intron_variant MELA-AU 17 60796671 60796671 single base substitution T C intron_variant MELA-AU 17 60796917 60796917 single base substitution G A intron_variant MELA-AU 17 60796946 60796946 single base substitution C T intron_variant MELA-AU 17 60797077 60797077 single base substitution G A intron_variant MELA-AU 17 60797129 60797129 single base substitution T C intron_variant MELA-AU 17 60797136 60797136 single base substitution C T intron_variant MELA-AU 17 60797199 60797199 single base substitution G A intron_variant MELA-AU 17 60797791 60797791 single base substitution C T intron_variant MELA-AU 17 60797819 60797819 single base substitution G A intron_variant MELA-AU 17 60797841 60797841 single base substitution C T intron_variant MELA-AU 17 60797890 60797890 single base substitution C A intron_variant MELA-AU 17 60798063 60798064 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 60798426 60798426 single base substitution C T intron_variant MELA-AU 17 60798632 60798632 single base substitution G A intron_variant MELA-AU 17 60799345 60799345 single base substitution T A intron_variant MELA-AU 17 60799347 60799347 single base substitution A G intron_variant MELA-AU 17 60799819 60799819 single base substitution C T intron_variant MELA-AU 17 60800503 60800503 single base substitution C T intron_variant MELA-AU 17 60800613 60800613 single base substitution C T intron_variant MELA-AU 17 60800997 60800997 single base substitution C T intron_variant MELA-AU 17 60801077 60801077 single base substitution C T intron_variant MELA-AU 17 60801254 60801254 single base substitution G A intron_variant MELA-AU 17 60801949 60801950 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 60801972 60801972 single base substitution C T intron_variant MELA-AU 17 60802201 60802201 single base substitution G A intron_variant MELA-AU 17 60802341 60802341 single base substitution G A intron_variant MELA-AU 17 60802341 60802341 single base substitution G A stop_gained Q556* 1666C>T MELA-AU 17 60802341 60802341 single base substitution G A stop_gained Q687* 2059C>T MELA-AU 17 60802341 60802341 single base substitution G A stop_gained Q688* 2062C>T MELA-AU 17 60802341 60802341 single base substitution G A stop_gained Q726* 2176C>T MELA-AU 17 60802371 60802371 single base substitution C T intron_variant MELA-AU 17 60802371 60802371 single base substitution C T missense_variant G546S 1636G>A MELA-AU 17 60802371 60802371 single base substitution C T missense_variant G677S 2029G>A MELA-AU 17 60802371 60802371 single base substitution C T missense_variant G678S 2032G>A MELA-AU 17 60802371 60802371 single base substitution C T missense_variant G716S 2146G>A MELA-AU 17 60802896 60802896 single base substitution G A intron_variant MELA-AU 17 60802903 60802903 single base substitution G A intron_variant MELA-AU 17 60803202 60803202 single base substitution C T intron_variant MELA-AU 17 60803217 60803217 single base substitution C T intron_variant MELA-AU 17 60803791 60803791 single base substitution T C intron_variant MELA-AU 17 60804043 60804043 single base substitution G A intron_variant MELA-AU 17 60804056 60804056 single base substitution C T intron_variant MELA-AU 17 60804125 60804125 single base substitution G A intron_variant MELA-AU 17 60804245 60804245 single base substitution C T intron_variant MELA-AU 17 60804261 60804261 single base substitution G A intron_variant MELA-AU 17 60804389 60804389 single base substitution C T intron_variant MELA-AU 17 60804518 60804518 single base substitution G A intron_variant MELA-AU 17 60804792 60804792 single base substitution A G intron_variant MELA-AU 17 60804821 60804821 single base substitution G A intron_variant MELA-AU 17 60804870 60804871 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 17 60805092 60805092 single base substitution G A intron_variant MELA-AU 17 60805437 60805437 single base substitution T C intron_variant MELA-AU 17 60805499 60805499 single base substitution C A intron_variant MELA-AU 17 60805586 60805586 single base substitution C T intron_variant MELA-AU 17 60805885 60805885 single base substitution G A intron_variant MELA-AU 17 60805927 60805927 single base substitution G A intron_variant MELA-AU 17 60805965 60805966 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 60806067 60806067 single base substitution T A intron_variant MELA-AU 17 60806068 60806068 single base substitution C T intron_variant MELA-AU 17 60806206 60806206 single base substitution A T intron_variant MELA-AU 17 60806220 60806220 single base substitution C T intron_variant MELA-AU 17 60806228 60806228 single base substitution A T intron_variant MELA-AU 17 60806275 60806275 single base substitution G A intron_variant MELA-AU 17 60806435 60806435 single base substitution G A intron_variant MELA-AU 17 60806715 60806715 single base substitution G A intron_variant MELA-AU 17 60807031 60807031 single base substitution C T intron_variant MELA-AU 17 60808209 60808209 single base substitution C T intron_variant MELA-AU 17 60808498 60808498 single base substitution G A intron_variant MELA-AU 17 60808896 60808896 single base substitution G A intron_variant MELA-AU 17 60809038 60809038 single base substitution C T intron_variant MELA-AU 17 60809154 60809154 single base substitution G A intron_variant MELA-AU 17 60809155 60809155 single base substitution G A intron_variant MELA-AU 17 60809433 60809433 single base substitution G A intron_variant MELA-AU 17 60809610 60809610 single base substitution C T intron_variant MELA-AU 17 60809789 60809789 single base substitution C T intron_variant MELA-AU 17 60809862 60809862 single base substitution C T intron_variant MELA-AU 17 60810247 60810247 single base substitution G A intron_variant MELA-AU 17 60810429 60810429 single base substitution C T intron_variant MELA-AU 17 60810567 60810567 single base substitution C T intron_variant MELA-AU 17 60810917 60810917 single base substitution C T intron_variant MELA-AU 17 60810937 60810937 single base substitution C T intron_variant MELA-AU 17 60811015 60811015 single base substitution C T intron_variant MELA-AU 17 60811042 60811042 single base substitution G A intron_variant MELA-AU 17 60811493 60811493 single base substitution C T intron_variant MELA-AU 17 60811522 60811522 single base substitution G A intron_variant MELA-AU 17 60811540 60811540 single base substitution C T intron_variant MELA-AU 17 60811669 60811669 single base substitution G A intron_variant MELA-AU 17 60811688 60811688 single base substitution G A intron_variant MELA-AU 17 60811803 60811803 single base substitution A C intron_variant MELA-AU 17 60811862 60811862 single base substitution G A intron_variant MELA-AU 17 60812061 60812061 single base substitution C T intron_variant MELA-AU 17 60812068 60812068 single base substitution G A intron_variant MELA-AU 17 60812123 60812123 single base substitution G A intron_variant MELA-AU 17 60812463 60812463 single base substitution C T intron_variant MELA-AU 17 60812618 60812618 single base substitution G A intron_variant MELA-AU 17 60812802 60812802 single base substitution G A intron_variant MELA-AU 17 60812852 60812852 single base substitution C T intron_variant MELA-AU 17 60813071 60813071 single base substitution G A intron_variant MELA-AU 17 60813292 60813292 single base substitution C T intron_variant MELA-AU 17 60813292 60813292 single base substitution C T missense_variant S514N 1541G>A MELA-AU 17 60813292 60813292 single base substitution C T missense_variant S645N 1934G>A MELA-AU 17 60813292 60813292 single base substitution C T missense_variant S646N 1937G>A MELA-AU 17 60813292 60813292 single base substitution C T missense_variant S684N 2051G>A MELA-AU 17 60813350 60813350 single base substitution C T intron_variant MELA-AU 17 60813350 60813350 single base substitution C T missense_variant E495K 1483G>A MELA-AU 17 60813350 60813350 single base substitution C T missense_variant E626K 1876G>A MELA-AU 17 60813350 60813350 single base substitution C T missense_variant E627K 1879G>A MELA-AU 17 60813350 60813350 single base substitution C T missense_variant E665K 1993G>A MELA-AU 17 60813469 60813469 single base substitution C T intron_variant MELA-AU 17 60813469 60813469 single base substitution C T missense_variant G455D 1364G>A MELA-AU 17 60813469 60813469 single base substitution C T missense_variant G586D 1757G>A MELA-AU 17 60813469 60813469 single base substitution C T missense_variant G587D 1760G>A MELA-AU 17 60813469 60813469 single base substitution C T missense_variant G625D 1874G>A MELA-AU 17 60813510 60813510 single base substitution C T intron_variant MELA-AU 17 60813510 60813510 single base substitution C T synonymous_variant V441V 1323G>A MELA-AU 17 60813510 60813510 single base substitution C T synonymous_variant V572V 1716G>A MELA-AU 17 60813510 60813510 single base substitution C T synonymous_variant V573V 1719G>A MELA-AU 17 60813510 60813510 single base substitution C T synonymous_variant V611V 1833G>A MELA-AU 17 60813916 60813916 single base substitution C T missense_variant G306E 917G>A MELA-AU 17 60813916 60813916 single base substitution C T missense_variant G437E 1310G>A MELA-AU 17 60813916 60813916 single base substitution C T missense_variant G438E 1313G>A MELA-AU 17 60813916 60813916 single base substitution C T missense_variant G476E 1427G>A MELA-AU 17 60813916 60813916 single base substitution C T upstream_gene_variant MELA-AU 17 60814024 60814024 single base substitution G A missense_variant S270L 809C>T MELA-AU 17 60814024 60814024 single base substitution G A missense_variant S401L 1202C>T MELA-AU 17 60814024 60814024 single base substitution G A missense_variant S402L 1205C>T MELA-AU 17 60814024 60814024 single base substitution G A missense_variant S440L 1319C>T MELA-AU 17 60814024 60814024 single base substitution G A upstream_gene_variant MELA-AU 17 60814138 60814138 single base substitution G T missense_variant T232K 695C>A MELA-AU 17 60814138 60814138 single base substitution G T missense_variant T363K 1088C>A MELA-AU 17 60814138 60814138 single base substitution G T missense_variant T364K 1091C>A MELA-AU 17 60814138 60814138 single base substitution G T missense_variant T402K 1205C>A MELA-AU 17 60814138 60814138 single base substitution G T upstream_gene_variant MELA-AU 17 60814267 60814267 single base substitution C A missense_variant G189V 566G>T MELA-AU 17 60814267 60814267 single base substitution C A missense_variant G320V 959G>T MELA-AU 17 60814267 60814267 single base substitution C A missense_variant G321V 962G>T MELA-AU 17 60814267 60814267 single base substitution C A missense_variant G359V 1076G>T MELA-AU 17 60814267 60814267 single base substitution C A upstream_gene_variant MELA-AU 17 60814507 60814507 single base substitution C T missense_variant G109E 326G>A MELA-AU 17 60814507 60814507 single base substitution C T missense_variant G240E 719G>A MELA-AU 17 60814507 60814507 single base substitution C T missense_variant G241E 722G>A MELA-AU 17 60814507 60814507 single base substitution C T missense_variant G279E 836G>A MELA-AU 17 60814507 60814507 single base substitution C T upstream_gene_variant MELA-AU 17 60814909 60814909 single base substitution G A intron_variant MELA-AU 17 60814909 60814909 single base substitution G A upstream_gene_variant MELA-AU 17 60815500 60815500 single base substitution C T intron_variant MELA-AU 17 60815500 60815500 single base substitution C T upstream_gene_variant MELA-AU 17 60815691 60815691 single base substitution G A intron_variant MELA-AU 17 60815691 60815691 single base substitution G A upstream_gene_variant MELA-AU 17 60815851 60815852 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 60815851 60815852 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 60816064 60816064 single base substitution C T intron_variant MELA-AU 17 60816064 60816064 single base substitution C T upstream_gene_variant MELA-AU 17 60816257 60816257 single base substitution G A intron_variant MELA-AU 17 60816257 60816257 single base substitution G A upstream_gene_variant MELA-AU 17 60816376 60816376 single base substitution G A intron_variant MELA-AU 17 60816376 60816376 single base substitution G A upstream_gene_variant MELA-AU 17 60816385 60816385 single base substitution G A intron_variant MELA-AU 17 60816385 60816385 single base substitution G A upstream_gene_variant MELA-AU 17 60816387 60816387 single base substitution C T intron_variant MELA-AU 17 60816387 60816387 single base substitution C T upstream_gene_variant MELA-AU 17 60816568 60816568 single base substitution G A intron_variant MELA-AU 17 60816568 60816568 single base substitution G A upstream_gene_variant MELA-AU 17 60816583 60816583 single base substitution C T intron_variant MELA-AU 17 60816583 60816583 single base substitution C T upstream_gene_variant MELA-AU 17 60817125 60817125 single base substitution C G intron_variant MELA-AU 17 60817125 60817125 single base substitution C G upstream_gene_variant MELA-AU 17 60817241 60817241 single base substitution C A intron_variant MELA-AU 17 60817241 60817241 single base substitution C A upstream_gene_variant MELA-AU 17 60817283 60817283 single base substitution G A intron_variant MELA-AU 17 60817283 60817283 single base substitution G A upstream_gene_variant MELA-AU 17 60817351 60817351 single base substitution C T intron_variant MELA-AU 17 60817351 60817351 single base substitution C T upstream_gene_variant MELA-AU 17 60817378 60817378 single base substitution C T intron_variant MELA-AU 17 60817378 60817378 single base substitution C T upstream_gene_variant MELA-AU 17 60817438 60817438 single base substitution T C intron_variant MELA-AU 17 60817438 60817438 single base substitution T C upstream_gene_variant MELA-AU 17 60817440 60817440 single base substitution T C intron_variant MELA-AU 17 60817440 60817440 single base substitution T C upstream_gene_variant MELA-AU 17 60817473 60817473 single base substitution G A intron_variant MELA-AU 17 60817473 60817473 single base substitution G A upstream_gene_variant MELA-AU 17 60817814 60817814 single base substitution C T intron_variant MELA-AU 17 60817814 60817814 single base substitution C T upstream_gene_variant MELA-AU 17 60817919 60817919 single base substitution C T intron_variant MELA-AU 17 60817919 60817919 single base substitution C T upstream_gene_variant MELA-AU 17 60818122 60818123 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 60818122 60818123 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 60818794 60818795 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 60818794 60818795 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 60819055 60819055 single base substitution T G intron_variant MELA-AU 17 60819146 60819146 single base substitution C T intron_variant MELA-AU 17 60819601 60819601 single base substitution G A intron_variant MELA-AU 17 60819711 60819711 single base substitution G T intron_variant MELA-AU 17 60819838 60819838 single base substitution G C intron_variant MELA-AU 17 60819864 60819864 single base substitution A G intron_variant MELA-AU 17 60820028 60820028 single base substitution C T intron_variant MELA-AU 17 60820214 60820214 single base substitution C T intron_variant MELA-AU 17 60820258 60820258 single base substitution T G intron_variant MELA-AU 17 60820312 60820312 single base substitution A T intron_variant MELA-AU 17 60821170 60821170 single base substitution G A intron_variant MELA-AU 17 60821188 60821188 single base substitution C T intron_variant MELA-AU 17 60821421 60821421 single base substitution C T intron_variant MELA-AU 17 60821433 60821433 single base substitution C T intron_variant MELA-AU 17 60821534 60821534 single base substitution C T intron_variant MELA-AU 17 60821557 60821557 single base substitution A T intron_variant MELA-AU 17 60821731 60821731 single base substitution C T intron_variant MELA-AU 17 60821731 60821731 single base substitution C T splice_region_variant MELA-AU 17 60821840 60821840 single base substitution C T synonymous_variant R12R 36G>A MELA-AU 17 60821840 60821840 single base substitution C T synonymous_variant R143R 429G>A MELA-AU 17 60821840 60821840 single base substitution C T synonymous_variant R144R 432G>A MELA-AU 17 60821840 60821840 single base substitution C T synonymous_variant R182R 546G>A MELA-AU 17 60821892 60821892 single base substitution G A splice_region_variant MELA-AU 17 60821892 60821892 single base substitution G A upstream_gene_variant MELA-AU 17 60822016 60822016 single base substitution G A intron_variant MELA-AU 17 60822016 60822016 single base substitution G A upstream_gene_variant MELA-AU 17 60822135 60822135 single base substitution C T intron_variant MELA-AU 17 60822135 60822135 single base substitution C T upstream_gene_variant MELA-AU 17 60822273 60822273 single base substitution G A intron_variant MELA-AU 17 60822273 60822273 single base substitution G A upstream_gene_variant MELA-AU 17 60822469 60822469 single base substitution T C downstream_gene_variant MELA-AU 17 60822469 60822469 single base substitution T C intron_variant MELA-AU 17 60822469 60822469 single base substitution T C upstream_gene_variant MELA-AU 17 60822688 60822688 single base substitution G A downstream_gene_variant MELA-AU 17 60822688 60822688 single base substitution G A intron_variant MELA-AU 17 60822688 60822688 single base substitution G A upstream_gene_variant MELA-AU 17 60823030 60823030 single base substitution G A downstream_gene_variant MELA-AU 17 60823030 60823030 single base substitution G A intron_variant MELA-AU 17 60823030 60823030 single base substitution G A upstream_gene_variant MELA-AU 17 60823056 60823056 single base substitution G A downstream_gene_variant MELA-AU 17 60823056 60823056 single base substitution G A intron_variant MELA-AU 17 60823056 60823056 single base substitution G A upstream_gene_variant MELA-AU 17 60823268 60823268 single base substitution C T downstream_gene_variant MELA-AU 17 60823268 60823268 single base substitution C T intron_variant MELA-AU 17 60823268 60823268 single base substitution C T upstream_gene_variant MELA-AU 17 60823277 60823277 single base substitution C T downstream_gene_variant MELA-AU 17 60823277 60823277 single base substitution C T intron_variant MELA-AU 17 60823277 60823277 single base substitution C T upstream_gene_variant MELA-AU 17 60823361 60823361 single base substitution G A downstream_gene_variant MELA-AU 17 60823361 60823361 single base substitution G A intron_variant MELA-AU 17 60823361 60823361 single base substitution G A upstream_gene_variant MELA-AU 17 60823368 60823368 single base substitution C T downstream_gene_variant MELA-AU 17 60823368 60823368 single base substitution C T intron_variant MELA-AU 17 60823368 60823368 single base substitution C T upstream_gene_variant MELA-AU 17 60823479 60823479 single base substitution G A downstream_gene_variant MELA-AU 17 60823479 60823479 single base substitution G A intron_variant MELA-AU 17 60823479 60823479 single base substitution G A upstream_gene_variant MELA-AU 17 60823600 60823600 single base substitution C T downstream_gene_variant MELA-AU 17 60823600 60823600 single base substitution C T intron_variant MELA-AU 17 60823600 60823600 single base substitution C T upstream_gene_variant MELA-AU 17 60823607 60823607 single base substitution C T downstream_gene_variant MELA-AU 17 60823607 60823607 single base substitution C T intron_variant MELA-AU 17 60823607 60823607 single base substitution C T upstream_gene_variant MELA-AU 17 60823642 60823642 single base substitution G A downstream_gene_variant MELA-AU 17 60823642 60823642 single base substitution G A intron_variant MELA-AU 17 60823642 60823642 single base substitution G A upstream_gene_variant MELA-AU 17 60823695 60823695 single base substitution G A downstream_gene_variant MELA-AU 17 60823695 60823695 single base substitution G A intron_variant MELA-AU 17 60823695 60823695 single base substitution G A upstream_gene_variant MELA-AU 17 60823787 60823787 single base substitution G A downstream_gene_variant MELA-AU 17 60823787 60823787 single base substitution G A intron_variant MELA-AU 17 60823787 60823787 single base substitution G A upstream_gene_variant MELA-AU 17 60823899 60823899 single base substitution C T downstream_gene_variant MELA-AU 17 60823899 60823899 single base substitution C T intron_variant MELA-AU 17 60823899 60823899 single base substitution C T upstream_gene_variant MELA-AU 17 60824238 60824238 single base substitution G A downstream_gene_variant MELA-AU 17 60824238 60824238 single base substitution G A intron_variant MELA-AU 17 60824238 60824238 single base substitution G A missense_variant P162S 484C>T MELA-AU 17 60824238 60824238 single base substitution G A upstream_gene_variant MELA-AU 17 60824328 60824328 single base substitution G A downstream_gene_variant MELA-AU 17 60824328 60824328 single base substitution G A intron_variant MELA-AU 17 60824328 60824328 single base substitution G A missense_variant P132S 394C>T MELA-AU 17 60824328 60824328 single base substitution G A upstream_gene_variant MELA-AU 17 60824635 60824635 single base substitution G C downstream_gene_variant MELA-AU 17 60824635 60824635 single base substitution G C intron_variant MELA-AU 17 60824635 60824635 single base substitution G C upstream_gene_variant MELA-AU 17 60824740 60824740 single base substitution C T downstream_gene_variant MELA-AU 17 60824740 60824740 single base substitution C T intron_variant MELA-AU 17 60824740 60824740 single base substitution C T upstream_gene_variant MELA-AU 17 60825538 60825538 single base substitution C T downstream_gene_variant MELA-AU 17 60825538 60825538 single base substitution C T intron_variant MELA-AU 17 60825538 60825538 single base substitution C T upstream_gene_variant MELA-AU 17 60825554 60825554 single base substitution C T downstream_gene_variant MELA-AU 17 60825554 60825554 single base substitution C T intron_variant MELA-AU 17 60825554 60825554 single base substitution C T upstream_gene_variant MELA-AU 17 60825666 60825666 single base substitution G A downstream_gene_variant MELA-AU 17 60825666 60825666 single base substitution G A intron_variant MELA-AU 17 60825666 60825666 single base substitution G A upstream_gene_variant MELA-AU 17 60825740 60825741 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 60825740 60825741 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 60825740 60825741 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 60825744 60825744 single base substitution G A downstream_gene_variant MELA-AU 17 60825744 60825744 single base substitution G A intron_variant MELA-AU 17 60825744 60825744 single base substitution G A upstream_gene_variant MELA-AU 17 60825904 60825904 single base substitution C T downstream_gene_variant MELA-AU 17 60825904 60825904 single base substitution C T intron_variant MELA-AU 17 60825904 60825904 single base substitution C T upstream_gene_variant MELA-AU 17 60826015 60826015 single base substitution G A downstream_gene_variant MELA-AU 17 60826015 60826015 single base substitution G A intron_variant MELA-AU 17 60826015 60826015 single base substitution G A upstream_gene_variant MELA-AU 17 60826117 60826117 single base substitution G A downstream_gene_variant MELA-AU 17 60826117 60826117 single base substitution G A intron_variant MELA-AU 17 60826117 60826117 single base substitution G A upstream_gene_variant MELA-AU 17 60826179 60826179 single base substitution C T downstream_gene_variant MELA-AU 17 60826179 60826179 single base substitution C T intron_variant MELA-AU 17 60826179 60826179 single base substitution C T upstream_gene_variant MELA-AU 17 60826571 60826571 single base substitution A G downstream_gene_variant MELA-AU 17 60826571 60826571 single base substitution A G intron_variant MELA-AU 17 60826571 60826571 single base substitution A G upstream_gene_variant MELA-AU 17 60826711 60826711 single base substitution A T downstream_gene_variant MELA-AU 17 60826711 60826711 single base substitution A T intron_variant MELA-AU 17 60826711 60826711 single base substitution A T upstream_gene_variant MELA-AU 17 60827020 60827020 single base substitution T C downstream_gene_variant MELA-AU 17 60827020 60827020 single base substitution T C intron_variant MELA-AU 17 60827217 60827217 single base substitution C T downstream_gene_variant MELA-AU 17 60827217 60827217 single base substitution C T intron_variant MELA-AU 17 60827284 60827284 single base substitution G A downstream_gene_variant MELA-AU 17 60827284 60827284 single base substitution G A intron_variant MELA-AU 17 60827497 60827497 single base substitution C T 3_prime_UTR_variant MELA-AU 17 60827497 60827497 single base substitution C T intron_variant MELA-AU 17 60827733 60827733 single base substitution G A intron_variant MELA-AU 17 60827733 60827733 single base substitution G A missense_variant P108S 322C>T MELA-AU 17 60827794 60827794 single base substitution G A intron_variant MELA-AU 17 60827794 60827794 single base substitution G A synonymous_variant L87L 261C>T MELA-AU 17 60828157 60828157 single base substitution C T intron_variant MELA-AU 17 60828165 60828165 single base substitution C T intron_variant MELA-AU 17 60828398 60828398 single base substitution G A intron_variant MELA-AU 17 60828422 60828422 single base substitution G A intron_variant MELA-AU 17 60828628 60828628 single base substitution G A intron_variant MELA-AU 17 60828915 60828915 single base substitution C T intron_variant MELA-AU 17 60829244 60829244 single base substitution G A intron_variant MELA-AU 17 60829307 60829307 single base substitution G A intron_variant MELA-AU 17 60829425 60829425 single base substitution C T intron_variant MELA-AU 17 60829502 60829502 single base substitution G A intron_variant MELA-AU 17 60829732 60829732 single base substitution G A intron_variant MELA-AU 17 60829737 60829737 single base substitution G A intron_variant MELA-AU 17 60829955 60829955 single base substitution T C intron_variant MELA-AU 17 60829984 60829984 single base substitution C T intron_variant MELA-AU 17 60830187 60830187 single base substitution C T intron_variant MELA-AU 17 60830417 60830417 single base substitution C T intron_variant MELA-AU 17 60830434 60830434 single base substitution C T intron_variant MELA-AU 17 60830473 60830473 single base substitution C T intron_variant MELA-AU 17 60830589 60830589 single base substitution T C intron_variant MELA-AU 17 60830998 60830998 single base substitution C T intron_variant MELA-AU 17 60831204 60831204 single base substitution C T intron_variant MELA-AU 17 60831436 60831436 single base substitution T A intron_variant MELA-AU 17 60831464 60831464 single base substitution C T intron_variant MELA-AU 17 60831933 60831933 single base substitution G A intron_variant MELA-AU 17 60831953 60831953 single base substitution G A intron_variant MELA-AU 17 60832047 60832047 single base substitution G A intron_variant MELA-AU 17 60832319 60832319 single base substitution T A intron_variant MELA-AU 17 60832321 60832321 single base substitution C T intron_variant MELA-AU 17 60832601 60832602 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 17 60832638 60832638 single base substitution G T intron_variant MELA-AU 17 60832645 60832645 single base substitution G A intron_variant MELA-AU 17 60832686 60832686 single base substitution C T intron_variant MELA-AU 17 60833032 60833032 single base substitution G A intron_variant MELA-AU 17 60833039 60833039 single base substitution C T intron_variant MELA-AU 17 60833091 60833092 multiple base substitution (>=2bp and <=200bp) TT GA intron_variant MELA-AU 17 60833357 60833357 single base substitution C T intron_variant MELA-AU 17 60833399 60833399 single base substitution C T intron_variant MELA-AU 17 60834044 60834044 single base substitution C T intron_variant MELA-AU 17 60834139 60834139 single base substitution G A intron_variant MELA-AU 17 60834228 60834229 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 60834607 60834607 single base substitution C T intron_variant MELA-AU 17 60834667 60834667 single base substitution C T intron_variant MELA-AU 17 60835798 60835798 single base substitution G A intron_variant MELA-AU 17 60837199 60837199 single base substitution G A missense_variant P127S 379C>T MELA-AU 17 60837199 60837199 single base substitution G A missense_variant P52S 154C>T MELA-AU 17 60837540 60837540 single base substitution A G intron_variant MELA-AU 17 60837540 60837540 single base substitution A G upstream_gene_variant MELA-AU 17 60838414 60838414 single base substitution C T intron_variant MELA-AU 17 60838414 60838414 single base substitution C T upstream_gene_variant MELA-AU 17 60839041 60839041 single base substitution C T intron_variant MELA-AU 17 60839041 60839041 single base substitution C T upstream_gene_variant MELA-AU 17 60839053 60839053 single base substitution G A intron_variant MELA-AU 17 60839053 60839053 single base substitution G A upstream_gene_variant MELA-AU 17 60839191 60839191 single base substitution G A intron_variant MELA-AU 17 60839191 60839191 single base substitution G A upstream_gene_variant MELA-AU 17 60839207 60839207 single base substitution G A intron_variant MELA-AU 17 60839207 60839207 single base substitution G A upstream_gene_variant MELA-AU 17 60839355 60839355 single base substitution G A intron_variant MELA-AU 17 60839355 60839355 single base substitution G A upstream_gene_variant MELA-AU 17 60839852 60839852 single base substitution C T intron_variant MELA-AU 17 60839852 60839852 single base substitution C T upstream_gene_variant MELA-AU 17 60840230 60840230 single base substitution C T intron_variant MELA-AU 17 60840230 60840230 single base substitution C T upstream_gene_variant MELA-AU 17 60840310 60840310 single base substitution C T intron_variant MELA-AU 17 60840310 60840310 single base substitution C T upstream_gene_variant MELA-AU 17 60840322 60840322 single base substitution C T intron_variant MELA-AU 17 60840322 60840322 single base substitution C T upstream_gene_variant MELA-AU 17 60840402 60840402 single base substitution C T intron_variant MELA-AU 17 60840402 60840402 single base substitution C T upstream_gene_variant MELA-AU 17 60840769 60840769 single base substitution G A intron_variant MELA-AU 17 60840769 60840769 single base substitution G A upstream_gene_variant MELA-AU 17 60840778 60840778 single base substitution C T intron_variant MELA-AU 17 60840778 60840778 single base substitution C T upstream_gene_variant MELA-AU 17 60840851 60840851 single base substitution G A intron_variant MELA-AU 17 60840851 60840851 single base substitution G A upstream_gene_variant MELA-AU 17 60840952 60840952 single base substitution C T intron_variant MELA-AU 17 60840952 60840952 single base substitution C T upstream_gene_variant MELA-AU 17 60841194 60841194 single base substitution G A intron_variant MELA-AU 17 60841194 60841194 single base substitution G A upstream_gene_variant MELA-AU 17 60841586 60841586 single base substitution G A intron_variant MELA-AU 17 60841586 60841586 single base substitution G A upstream_gene_variant MELA-AU 17 60841642 60841642 single base substitution G A intron_variant MELA-AU 17 60841642 60841642 single base substitution G A upstream_gene_variant MELA-AU 17 60841704 60841704 single base substitution G A intron_variant MELA-AU 17 60841704 60841704 single base substitution G A upstream_gene_variant MELA-AU 17 60841944 60841944 single base substitution G A intron_variant MELA-AU 17 60841944 60841944 single base substitution G A upstream_gene_variant MELA-AU 17 60842272 60842273 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 17 60842272 60842273 multiple base substitution (>=2bp and <=200bp) GG AT upstream_gene_variant MELA-AU 17 60842419 60842419 single base substitution T C intron_variant MELA-AU 17 60842608 60842608 single base substitution G A intron_variant MELA-AU 17 60842782 60842782 single base substitution C T intron_variant MELA-AU 17 60843077 60843077 single base substitution G A intron_variant MELA-AU 17 60843166 60843166 single base substitution G A intron_variant MELA-AU 17 60843557 60843557 single base substitution A T intron_variant MELA-AU 17 60843626 60843626 single base substitution C T intron_variant MELA-AU 17 60843849 60843849 single base substitution G A intron_variant MELA-AU 17 60843855 60843855 single base substitution C T intron_variant MELA-AU 17 60843980 60843980 single base substitution C T intron_variant MELA-AU 17 60844040 60844040 single base substitution C T intron_variant MELA-AU 17 60844142 60844142 single base substitution C T intron_variant MELA-AU 17 60844151 60844151 single base substitution C T intron_variant MELA-AU 17 60844179 60844179 single base substitution G A intron_variant MELA-AU 17 60844595 60844595 single base substitution C G intron_variant MELA-AU 17 60844797 60844797 single base substitution G A intron_variant MELA-AU 17 60844836 60844836 single base substitution G A intron_variant MELA-AU 17 60844875 60844875 single base substitution G A intron_variant MELA-AU 17 60845081 60845082 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 60845598 60845598 single base substitution G A intron_variant MELA-AU 17 60845774 60845774 single base substitution G A intron_variant MELA-AU 17 60845986 60845986 single base substitution G A intron_variant MELA-AU 17 60846439 60846439 single base substitution C T intron_variant MELA-AU 17 60846530 60846530 single base substitution C T intron_variant MELA-AU 17 60846863 60846863 single base substitution C T intron_variant MELA-AU 17 60846868 60846868 single base substitution C T intron_variant MELA-AU 17 60847132 60847132 single base substitution C T intron_variant MELA-AU 17 60847165 60847165 single base substitution T C intron_variant MELA-AU 17 60847370 60847370 single base substitution C T intron_variant MELA-AU 17 60848127 60848127 single base substitution C T intron_variant MELA-AU 17 60848307 60848307 single base substitution C T intron_variant MELA-AU 17 60848573 60848573 single base substitution G A intron_variant MELA-AU 17 60848580 60848580 single base substitution G A intron_variant MELA-AU 17 60848664 60848664 single base substitution C T intron_variant MELA-AU 17 60848800 60848800 single base substitution G A intron_variant MELA-AU 17 60848910 60848910 single base substitution G A intron_variant MELA-AU 17 60849740 60849740 single base substitution C T intron_variant MELA-AU 17 60849962 60849962 single base substitution G A intron_variant MELA-AU 17 60850120 60850120 single base substitution C T intron_variant MELA-AU 17 60850127 60850127 single base substitution G A intron_variant MELA-AU 17 60850185 60850185 single base substitution G C intron_variant MELA-AU 17 60850202 60850202 single base substitution C T intron_variant MELA-AU 17 60850433 60850433 single base substitution G A intron_variant MELA-AU 17 60850852 60850852 single base substitution G A intron_variant MELA-AU 17 60850940 60850940 single base substitution G A intron_variant MELA-AU 17 60851054 60851054 single base substitution G A intron_variant MELA-AU 17 60851072 60851072 single base substitution G A intron_variant MELA-AU 17 60851088 60851088 single base substitution G A intron_variant MELA-AU 17 60851113 60851113 single base substitution G A intron_variant MELA-AU 17 60851124 60851124 single base substitution G A intron_variant MELA-AU 17 60851295 60851296 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 17 60851304 60851304 single base substitution G A intron_variant MELA-AU 17 60851404 60851404 single base substitution G A intron_variant MELA-AU 17 60851427 60851427 single base substitution G A intron_variant MELA-AU 17 60851442 60851442 single base substitution G A intron_variant MELA-AU 17 60851781 60851781 single base substitution G A intron_variant MELA-AU 17 60852437 60852437 single base substitution A G intron_variant MELA-AU 17 60852457 60852457 single base substitution C T intron_variant MELA-AU 17 60852875 60852875 single base substitution G A intron_variant MELA-AU 17 60853079 60853079 single base substitution T A intron_variant MELA-AU 17 60853312 60853312 single base substitution G A downstream_gene_variant MELA-AU 17 60853312 60853312 single base substitution G A intron_variant MELA-AU 17 60853564 60853564 single base substitution G A downstream_gene_variant MELA-AU 17 60853564 60853564 single base substitution G A intron_variant MELA-AU 17 60853634 60853634 single base substitution G A downstream_gene_variant MELA-AU 17 60853634 60853634 single base substitution G A intron_variant MELA-AU 17 60853990 60853990 single base substitution G A downstream_gene_variant MELA-AU 17 60853990 60853990 single base substitution G A intron_variant MELA-AU 17 60854008 60854008 single base substitution C T downstream_gene_variant MELA-AU 17 60854008 60854008 single base substitution C T intron_variant MELA-AU 17 60854622 60854622 single base substitution G A downstream_gene_variant MELA-AU 17 60854622 60854622 single base substitution G A intron_variant MELA-AU 17 60855303 60855304 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 60855303 60855304 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 60855314 60855314 single base substitution G A downstream_gene_variant MELA-AU 17 60855314 60855314 single base substitution G A intron_variant MELA-AU 17 60855437 60855437 single base substitution G A downstream_gene_variant MELA-AU 17 60855437 60855437 single base substitution G A intron_variant MELA-AU 17 60855558 60855558 single base substitution C T downstream_gene_variant MELA-AU 17 60855558 60855558 single base substitution C T intron_variant MELA-AU 17 60856120 60856120 single base substitution G A downstream_gene_variant MELA-AU 17 60856120 60856120 single base substitution G A intron_variant MELA-AU 17 60856325 60856325 single base substitution G A downstream_gene_variant MELA-AU 17 60856325 60856325 single base substitution G A intron_variant MELA-AU 17 60856365 60856365 single base substitution G A downstream_gene_variant MELA-AU 17 60856365 60856365 single base substitution G A intron_variant MELA-AU 17 60856372 60856372 single base substitution C T downstream_gene_variant MELA-AU 17 60856372 60856372 single base substitution C T intron_variant MELA-AU 17 60856535 60856535 single base substitution C T downstream_gene_variant MELA-AU 17 60856535 60856535 single base substitution C T intron_variant MELA-AU 17 60856657 60856657 single base substitution C T downstream_gene_variant MELA-AU 17 60856657 60856657 single base substitution C T intron_variant MELA-AU 17 60856709 60856709 single base substitution G A downstream_gene_variant MELA-AU 17 60856709 60856709 single base substitution G A intron_variant MELA-AU 17 60856804 60856804 single base substitution G T downstream_gene_variant MELA-AU 17 60856804 60856804 single base substitution G T intron_variant MELA-AU 17 60857706 60857706 single base substitution G A downstream_gene_variant MELA-AU 17 60857706 60857706 single base substitution G A intron_variant MELA-AU 17 60857802 60857802 single base substitution G A downstream_gene_variant MELA-AU 17 60857802 60857802 single base substitution G A intron_variant MELA-AU 17 60857990 60857990 single base substitution G A downstream_gene_variant MELA-AU 17 60857990 60857990 single base substitution G A intron_variant MELA-AU 17 60858169 60858169 single base substitution G A downstream_gene_variant MELA-AU 17 60858169 60858169 single base substitution G A intron_variant MELA-AU 17 60858228 60858228 single base substitution C G downstream_gene_variant MELA-AU 17 60858228 60858228 single base substitution C G intron_variant MELA-AU 17 60858300 60858300 single base substitution C T downstream_gene_variant MELA-AU 17 60858300 60858300 single base substitution C T intron_variant MELA-AU 17 60858320 60858320 single base substitution C T exon_variant MELA-AU 17 60858320 60858320 single base substitution C T intron_variant MELA-AU 17 60858347 60858348 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 17 60858347 60858348 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 60858716 60858716 single base substitution C T intron_variant MELA-AU 17 60858736 60858736 single base substitution G A intron_variant MELA-AU 17 60858765 60858765 single base substitution G A intron_variant MELA-AU 17 60859159 60859159 single base substitution G A intron_variant MELA-AU 17 60859232 60859232 single base substitution G A intron_variant MELA-AU 17 60859458 60859458 single base substitution C T intron_variant MELA-AU 17 60859521 60859522 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 60859600 60859600 single base substitution C T intron_variant MELA-AU 17 60859634 60859634 single base substitution G A intron_variant MELA-AU 17 60859831 60859831 single base substitution C T intron_variant MELA-AU 17 60859959 60859959 single base substitution G A intron_variant MELA-AU 17 60860009 60860009 single base substitution C T intron_variant MELA-AU 17 60860010 60860010 single base substitution G A intron_variant MELA-AU 17 60860041 60860041 single base substitution T C intron_variant MELA-AU 17 60860056 60860056 single base substitution G A intron_variant MELA-AU 17 60860057 60860057 single base substitution G A intron_variant MELA-AU 17 60860086 60860086 single base substitution G A intron_variant MELA-AU 17 60860371 60860371 single base substitution T C intron_variant MELA-AU 17 60860410 60860410 single base substitution C T intron_variant MELA-AU 17 60860444 60860444 single base substitution G A intron_variant MELA-AU 17 60861006 60861006 single base substitution G A downstream_gene_variant MELA-AU 17 60861006 60861006 single base substitution G A intron_variant MELA-AU 17 60861085 60861085 single base substitution C T downstream_gene_variant MELA-AU 17 60861085 60861085 single base substitution C T intron_variant MELA-AU 17 60861267 60861267 single base substitution C T downstream_gene_variant MELA-AU 17 60861267 60861267 single base substitution C T intron_variant MELA-AU 17 60861556 60861556 single base substitution C T downstream_gene_variant MELA-AU 17 60861556 60861556 single base substitution C T intron_variant MELA-AU 17 60861833 60861833 single base substitution G A downstream_gene_variant MELA-AU 17 60861833 60861833 single base substitution G A intron_variant MELA-AU 17 60861986 60861986 single base substitution C T downstream_gene_variant MELA-AU 17 60861986 60861986 single base substitution C T intron_variant MELA-AU 17 60862382 60862382 single base substitution C G downstream_gene_variant MELA-AU 17 60862382 60862382 single base substitution C G intron_variant MELA-AU 17 60862395 60862395 single base substitution C T downstream_gene_variant MELA-AU 17 60862395 60862395 single base substitution C T intron_variant MELA-AU 17 60862644 60862644 single base substitution C T downstream_gene_variant MELA-AU 17 60862644 60862644 single base substitution C T intron_variant MELA-AU 17 60862796 60862796 single base substitution C T downstream_gene_variant MELA-AU 17 60862796 60862796 single base substitution C T intron_variant MELA-AU 17 60863309 60863309 single base substitution C T downstream_gene_variant MELA-AU 17 60863309 60863309 single base substitution C T intron_variant MELA-AU 17 60863315 60863315 single base substitution T C downstream_gene_variant MELA-AU 17 60863315 60863315 single base substitution T C intron_variant MELA-AU 17 60863444 60863444 single base substitution T C downstream_gene_variant MELA-AU 17 60863444 60863444 single base substitution T C intron_variant MELA-AU 17 60863483 60863483 single base substitution G A downstream_gene_variant MELA-AU 17 60863483 60863483 single base substitution G A intron_variant MELA-AU 17 60863485 60863485 single base substitution A C downstream_gene_variant MELA-AU 17 60863485 60863485 single base substitution A C intron_variant MELA-AU 17 60864133 60864133 single base substitution G A downstream_gene_variant MELA-AU 17 60864133 60864133 single base substitution G A intron_variant MELA-AU 17 60864548 60864548 single base substitution G A downstream_gene_variant MELA-AU 17 60864548 60864548 single base substitution G A intron_variant MELA-AU 17 60864576 60864576 single base substitution C T downstream_gene_variant MELA-AU 17 60864576 60864576 single base substitution C T intron_variant MELA-AU 17 60864654 60864654 single base substitution C T downstream_gene_variant MELA-AU 17 60864654 60864654 single base substitution C T intron_variant MELA-AU 17 60864723 60864723 single base substitution G A downstream_gene_variant MELA-AU 17 60864723 60864723 single base substitution G A intron_variant MELA-AU 17 60864785 60864785 single base substitution C T downstream_gene_variant MELA-AU 17 60864785 60864785 single base substitution C T intron_variant MELA-AU 17 60864824 60864824 single base substitution A T downstream_gene_variant MELA-AU 17 60864824 60864824 single base substitution A T intron_variant MELA-AU 17 60865116 60865116 single base substitution T C downstream_gene_variant MELA-AU 17 60865116 60865116 single base substitution T C intron_variant MELA-AU 17 60865474 60865474 single base substitution C T downstream_gene_variant MELA-AU 17 60865474 60865474 single base substitution C T intron_variant MELA-AU 17 60865518 60865518 single base substitution C T downstream_gene_variant MELA-AU 17 60865518 60865518 single base substitution C T intron_variant MELA-AU 17 60865560 60865560 single base substitution G A downstream_gene_variant MELA-AU 17 60865560 60865560 single base substitution G A intron_variant MELA-AU 17 60865688 60865688 single base substitution C T downstream_gene_variant MELA-AU 17 60865688 60865688 single base substitution C T intron_variant MELA-AU 17 60865947 60865947 single base substitution C T exon_variant MELA-AU 17 60865947 60865947 single base substitution C T missense_variant R35Q 104G>A MELA-AU 17 60866148 60866148 single base substitution G A intron_variant MELA-AU 17 60866173 60866173 single base substitution C T intron_variant MELA-AU 17 60866545 60866545 single base substitution C T intron_variant MELA-AU 17 60866675 60866675 single base substitution G A intron_variant MELA-AU 17 60867189 60867190 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 60867222 60867222 single base substitution G A intron_variant MELA-AU 17 60867352 60867352 single base substitution C T intron_variant MELA-AU 17 60867640 60867640 single base substitution G A intron_variant MELA-AU 17 60867999 60867999 single base substitution G A intron_variant MELA-AU 17 60868166 60868166 single base substitution C T intron_variant MELA-AU 17 60868193 60868193 single base substitution C T intron_variant MELA-AU 17 60868267 60868267 single base substitution G A intron_variant MELA-AU 17 60868336 60868336 single base substitution C T intron_variant MELA-AU 17 60868553 60868553 single base substitution T C intron_variant MELA-AU 17 60868822 60868822 single base substitution C T intron_variant MELA-AU 17 60869160 60869160 single base substitution G A intron_variant MELA-AU 17 60869445 60869445 single base substitution G A intron_variant MELA-AU 17 60869478 60869478 single base substitution G A intron_variant MELA-AU 17 60869564 60869564 single base substitution G A intron_variant MELA-AU 17 60870061 60870062 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 60870294 60870294 single base substitution C T intron_variant MELA-AU 17 60871395 60871395 single base substitution C T intron_variant MELA-AU 17 60872407 60872407 single base substitution C T intron_variant MELA-AU 17 60873217 60873217 single base substitution G A intron_variant MELA-AU 17 60873368 60873368 single base substitution C T intron_variant MELA-AU 17 60873712 60873712 single base substitution G A intron_variant MELA-AU 17 60874489 60874489 single base substitution G A intron_variant MELA-AU 17 60874493 60874493 single base substitution G A intron_variant MELA-AU 17 60874756 60874756 single base substitution G A intron_variant MELA-AU 17 60874982 60874982 single base substitution G A intron_variant MELA-AU 17 60875070 60875070 single base substitution G A intron_variant MELA-AU 17 60875149 60875149 single base substitution G A intron_variant MELA-AU 17 60876241 60876241 single base substitution C T intron_variant MELA-AU 17 60876898 60876898 single base substitution C T intron_variant MELA-AU 17 60877002 60877002 single base substitution G A intron_variant MELA-AU 17 60877251 60877251 single base substitution G A intron_variant MELA-AU 17 60877581 60877581 single base substitution G A intron_variant MELA-AU 17 60877827 60877827 single base substitution G A intron_variant MELA-AU 17 60877847 60877847 single base substitution G A intron_variant MELA-AU 17 60877898 60877898 single base substitution G A intron_variant MELA-AU 17 60878055 60878055 single base substitution C T intron_variant MELA-AU 17 60878302 60878302 single base substitution G A intron_variant MELA-AU 17 60878896 60878896 single base substitution G A intron_variant MELA-AU 17 60878897 60878897 single base substitution T C intron_variant MELA-AU 17 60879057 60879057 single base substitution C T exon_variant MELA-AU 17 60879057 60879057 single base substitution C T missense_variant D14N 40G>A MELA-AU 17 60879222 60879222 single base substitution C T intron_variant MELA-AU 17 60879332 60879332 single base substitution T G intron_variant MELA-AU 17 60879342 60879342 single base substitution C T intron_variant MELA-AU 17 60879400 60879400 single base substitution C T intron_variant MELA-AU 17 60879521 60879521 single base substitution G A intron_variant MELA-AU 17 60879554 60879554 single base substitution C G intron_variant MELA-AU 17 60879583 60879583 deletion of <=200bp T - intron_variant MELA-AU 17 60879675 60879675 single base substitution G A intron_variant MELA-AU 17 60879870 60879870 single base substitution C T intron_variant MELA-AU 17 60879993 60879993 single base substitution G A intron_variant MELA-AU 17 60880113 60880113 single base substitution G A intron_variant MELA-AU 17 60880261 60880261 single base substitution A G intron_variant MELA-AU 17 60880264 60880264 single base substitution C T intron_variant MELA-AU 17 60880302 60880302 single base substitution C T intron_variant MELA-AU 17 60880381 60880381 single base substitution G A intron_variant MELA-AU 17 60880427 60880427 single base substitution C T intron_variant MELA-AU 17 60880849 60880849 single base substitution G A intron_variant MELA-AU 17 60881003 60881003 single base substitution C T intron_variant MELA-AU 17 60881091 60881091 single base substitution G A intron_variant MELA-AU 17 60881125 60881125 single base substitution C T intron_variant MELA-AU 17 60881274 60881274 single base substitution C T intron_variant MELA-AU 17 60881359 60881359 single base substitution G A intron_variant MELA-AU 17 60881379 60881379 single base substitution C T intron_variant MELA-AU 17 60881415 60881415 single base substitution G A intron_variant MELA-AU 17 60881710 60881710 single base substitution G A intron_variant MELA-AU 17 60882381 60882381 single base substitution G A 5_prime_UTR_variant MELA-AU 17 60882381 60882381 single base substitution G A intron_variant MELA-AU 17 60882664 60882664 single base substitution G A intron_variant MELA-AU 17 60882914 60882914 single base substitution G A intron_variant MELA-AU 17 60883070 60883070 single base substitution C T intron_variant MELA-AU 17 60883076 60883076 single base substitution C T intron_variant MELA-AU 17 60883100 60883100 single base substitution C T intron_variant MELA-AU 17 60883227 60883227 single base substitution C T intron_variant MELA-AU 17 60883685 60883685 single base substitution G A intron_variant MELA-AU 17 60883919 60883919 single base substitution G A 5_prime_UTR_variant MELA-AU 17 60883919 60883919 single base substitution G A intron_variant MELA-AU 17 60884003 60884003 single base substitution C T 5_prime_UTR_variant MELA-AU 17 60884003 60884003 single base substitution C T intron_variant MELA-AU 17 60884003 60884003 single base substitution C T upstream_gene_variant MELA-AU 17 60884080 60884080 single base substitution C T intron_variant MELA-AU 17 60884080 60884080 single base substitution C T upstream_gene_variant MELA-AU 17 60884307 60884307 single base substitution A G intron_variant MELA-AU 17 60884307 60884307 single base substitution A G upstream_gene_variant MELA-AU 17 60884335 60884335 single base substitution G A intron_variant MELA-AU 17 60884335 60884335 single base substitution G A upstream_gene_variant MELA-AU 17 60884685 60884685 single base substitution G A intron_variant MELA-AU 17 60884685 60884685 single base substitution G A upstream_gene_variant MELA-AU 17 60884720 60884720 single base substitution G A intron_variant MELA-AU 17 60884720 60884720 single base substitution G A upstream_gene_variant MELA-AU 17 60885095 60885095 single base substitution A G intron_variant MELA-AU 17 60885095 60885095 single base substitution A G upstream_gene_variant MELA-AU 17 60885558 60885558 single base substitution C T 5_prime_UTR_variant MELA-AU 17 60885558 60885558 single base substitution C T exon_variant MELA-AU 17 60885558 60885558 single base substitution C T upstream_gene_variant MELA-AU 17 60886120 60886120 single base substitution G A upstream_gene_variant MELA-AU 17 60886138 60886138 single base substitution G A upstream_gene_variant MELA-AU 17 60886464 60886464 single base substitution G A upstream_gene_variant MELA-AU 17 60886578 60886578 single base substitution G T upstream_gene_variant MELA-AU 17 60886643 60886643 single base substitution G A upstream_gene_variant MELA-AU 17 60886894 60886894 single base substitution C T upstream_gene_variant MELA-AU 17 60886895 60886895 single base substitution C T upstream_gene_variant MELA-AU 17 60887061 60887061 single base substitution C T upstream_gene_variant MELA-AU 17 60887211 60887211 single base substitution C T upstream_gene_variant MELA-AU 17 60887233 60887233 single base substitution C T upstream_gene_variant MELA-AU 17 60887275 60887275 single base substitution C T upstream_gene_variant MELA-AU 17 60887451 60887451 single base substitution G A upstream_gene_variant MELA-AU 17 60887556 60887556 single base substitution G A upstream_gene_variant MELA-AU 17 60887597 60887597 single base substitution C T upstream_gene_variant MELA-AU 17 60887777 60887777 single base substitution G A upstream_gene_variant MELA-AU 17 60888332 60888332 single base substitution C T upstream_gene_variant MELA-AU 17 60888702 60888702 single base substitution C T upstream_gene_variant MELA-AU 17 60888820 60888820 single base substitution G A upstream_gene_variant MELA-AU 17 60888870 60888870 single base substitution A C upstream_gene_variant MELA-AU 17 60888982 60888982 single base substitution G A upstream_gene_variant MELA-AU 17 60889002 60889002 single base substitution C T upstream_gene_variant MELA-AU 17 60889085 60889085 single base substitution G A upstream_gene_variant MELA-AU 17 60889184 60889184 single base substitution G A upstream_gene_variant MELA-AU 17 60889363 60889363 single base substitution C T upstream_gene_variant MELA-AU 17 60889469 60889469 single base substitution A T upstream_gene_variant MELA-AU 17 60889492 60889492 single base substitution G A upstream_gene_variant MELA-AU 17 60889735 60889735 single base substitution C T upstream_gene_variant MELA-AU 17 60889802 60889802 single base substitution C T upstream_gene_variant MELA-AU 17 60889983 60889983 single base substitution C T upstream_gene_variant MELA-AU 17 60889991 60889991 single base substitution C T upstream_gene_variant MELA-AU 17 60890021 60890021 single base substitution G A upstream_gene_variant MELA-AU 17 60890411 60890411 single base substitution G A upstream_gene_variant MELA-AU 17 60890511 60890511 single base substitution C T upstream_gene_variant MELA-AU 17 60890602 60890602 single base substitution C T upstream_gene_variant ORCA-IN 17 60790563 60790563 single base substitution C T intron_variant ORCA-IN 17 60802429 60802429 single base substitution C A intron_variant ORCA-IN 17 60802429 60802429 single base substitution C A missense_variant L526F 1578G>T ORCA-IN 17 60802429 60802429 single base substitution C A missense_variant L657F 1971G>T ORCA-IN 17 60802429 60802429 single base substitution C A missense_variant L658F 1974G>T ORCA-IN 17 60802429 60802429 single base substitution C A missense_variant L696F 2088G>T ORCA-IN 17 60808278 60808278 single base substitution G A intron_variant ORCA-IN 17 60830471 60830471 single base substitution C T intron_variant ORCA-IN 17 60855743 60855743 single base substitution G C downstream_gene_variant ORCA-IN 17 60855743 60855743 single base substitution G C intron_variant ORCA-IN 17 60856439 60856439 single base substitution C A downstream_gene_variant ORCA-IN 17 60856439 60856439 single base substitution C A intron_variant ORCA-IN 17 60878459 60878459 single base substitution C T intron_variant OV-AU 17 60777923 60777923 single base substitution T G downstream_gene_variant OV-AU 17 60785274 60785274 single base substitution G A intron_variant OV-AU 17 60785274 60785274 single base substitution G A upstream_gene_variant OV-AU 17 60788089 60788089 single base substitution T A intron_variant OV-AU 17 60788174 60788174 single base substitution G A intron_variant OV-AU 17 60791102 60791102 single base substitution C G intron_variant OV-AU 17 60793752 60793752 single base substitution A C intron_variant OV-AU 17 60795237 60795237 single base substitution T C intron_variant OV-AU 17 60796409 60796409 single base substitution C A intron_variant OV-AU 17 60816205 60816205 single base substitution C G intron_variant OV-AU 17 60816205 60816205 single base substitution C G upstream_gene_variant OV-AU 17 60816408 60816408 single base substitution C G intron_variant OV-AU 17 60816408 60816408 single base substitution C G upstream_gene_variant OV-AU 17 60827700 60827700 single base substitution C T intron_variant OV-AU 17 60827700 60827700 single base substitution C T missense_variant A119T 355G>A OV-AU 17 60827810 60827810 single base substitution G C intron_variant OV-AU 17 60827810 60827810 single base substitution G C missense_variant T82S 245C>G OV-AU 17 60834762 60834762 single base substitution C A intron_variant OV-AU 17 60835643 60835643 single base substitution G C intron_variant OV-AU 17 60836910 60836910 single base substitution G C intron_variant OV-AU 17 60840692 60840692 single base substitution G T intron_variant OV-AU 17 60840692 60840692 single base substitution G T upstream_gene_variant OV-AU 17 60853064 60853064 single base substitution A T intron_variant OV-AU 17 60853446 60853446 single base substitution C G downstream_gene_variant OV-AU 17 60853446 60853446 single base substitution C G intron_variant OV-AU 17 60857604 60857604 single base substitution C T downstream_gene_variant OV-AU 17 60857604 60857604 single base substitution C T intron_variant OV-AU 17 60860024 60860024 single base substitution A T intron_variant OV-AU 17 60861854 60861854 single base substitution T G downstream_gene_variant OV-AU 17 60861854 60861854 single base substitution T G intron_variant OV-AU 17 60863395 60863395 single base substitution A G downstream_gene_variant OV-AU 17 60863395 60863395 single base substitution A G intron_variant OV-AU 17 60874283 60874283 single base substitution G A intron_variant OV-AU 17 60876172 60876172 single base substitution A T intron_variant OV-AU 17 60890687 60890687 single base substitution T A upstream_gene_variant PACA-AU 17 60773812 60773812 single base substitution G T downstream_gene_variant PACA-AU 17 60775210 60775210 single base substitution A C downstream_gene_variant PACA-AU 17 60776765 60776768 deletion of <=200bp TTTC - downstream_gene_variant PACA-AU 17 60777801 60777801 single base substitution C T downstream_gene_variant PACA-AU 17 60786022 60786022 single base substitution C T intron_variant PACA-AU 17 60793506 60793506 single base substitution G A intron_variant PACA-AU 17 60798725 60798725 single base substitution C T intron_variant PACA-AU 17 60799021 60799021 insertion of <=200bp - T intron_variant PACA-AU 17 60807340 60807340 single base substitution C T intron_variant PACA-AU 17 60807466 60807466 single base substitution C A intron_variant PACA-AU 17 60809677 60809677 single base substitution C T intron_variant PACA-AU 17 60813333 60813333 single base substitution C G intron_variant PACA-AU 17 60813333 60813333 single base substitution C G missense_variant K500N 1500G>C PACA-AU 17 60813333 60813333 single base substitution C G missense_variant K631N 1893G>C PACA-AU 17 60813333 60813333 single base substitution C G missense_variant K632N 1896G>C PACA-AU 17 60813333 60813333 single base substitution C G missense_variant K670N 2010G>C PACA-AU 17 60816851 60816851 single base substitution T A intron_variant PACA-AU 17 60816851 60816851 single base substitution T A upstream_gene_variant PACA-AU 17 60817158 60817158 single base substitution A G intron_variant PACA-AU 17 60817158 60817158 single base substitution A G upstream_gene_variant PACA-AU 17 60819348 60819348 single base substitution C T intron_variant PACA-AU 17 60827507 60827507 single base substitution C T 3_prime_UTR_variant PACA-AU 17 60827507 60827507 single base substitution C T intron_variant PACA-AU 17 60827661 60827661 single base substitution C T intron_variant PACA-AU 17 60827661 60827661 single base substitution C T missense_variant V132M 394G>A PACA-AU 17 60828807 60828807 single base substitution C T intron_variant PACA-AU 17 60832946 60832946 single base substitution C T intron_variant PACA-AU 17 60842913 60842913 single base substitution A C intron_variant PACA-AU 17 60843868 60843868 deletion of <=200bp G - intron_variant PACA-AU 17 60846363 60846363 single base substitution C T intron_variant PACA-AU 17 60851574 60851574 single base substitution G A intron_variant PACA-AU 17 60864490 60864490 single base substitution C T downstream_gene_variant PACA-AU 17 60864490 60864490 single base substitution C T intron_variant PACA-AU 17 60876731 60876731 single base substitution C T intron_variant PACA-AU 17 60881760 60881760 single base substitution G A intron_variant PACA-AU 17 60883709 60883709 single base substitution G C intron_variant PACA-AU 17 60884660 60884660 insertion of <=200bp - G intron_variant PACA-AU 17 60884660 60884660 insertion of <=200bp - G upstream_gene_variant PACA-AU 17 60884731 60884731 single base substitution G A intron_variant PACA-AU 17 60884731 60884731 single base substitution G A upstream_gene_variant PACA-CA 17 60774319 60774319 single base substitution C T downstream_gene_variant PACA-CA 17 60777334 60777334 single base substitution G A downstream_gene_variant PACA-CA 17 60782170 60782170 single base substitution C T downstream_gene_variant PACA-CA 17 60782170 60782170 single base substitution C T intron_variant PACA-CA 17 60782170 60782170 single base substitution C T upstream_gene_variant PACA-CA 17 60783206 60783206 single base substitution C T intron_variant PACA-CA 17 60783206 60783206 single base substitution C T upstream_gene_variant PACA-CA 17 60784424 60784424 single base substitution C T intron_variant PACA-CA 17 60784424 60784424 single base substitution C T upstream_gene_variant PACA-CA 17 60786841 60786841 single base substitution A T intron_variant PACA-CA 17 60792643 60792667 deletion of <=200bp AGAGCATGACCATCTTTAGTTGGGG - intron_variant PACA-CA 17 60792985 60792985 single base substitution C T intron_variant PACA-CA 17 60793502 60793502 single base substitution C A intron_variant PACA-CA 17 60794470 60794470 single base substitution T C intron_variant PACA-CA 17 60794950 60794950 single base substitution C T intron_variant PACA-CA 17 60795668 60795668 single base substitution C T intron_variant PACA-CA 17 60801169 60801169 single base substitution C T intron_variant PACA-CA 17 60806255 60806255 single base substitution A G intron_variant PACA-CA 17 60808383 60808383 single base substitution C T intron_variant PACA-CA 17 60811315 60811315 single base substitution G A intron_variant PACA-CA 17 60811919 60811919 single base substitution G A intron_variant PACA-CA 17 60814261 60814261 single base substitution G A missense_variant S191L 572C>T PACA-CA 17 60814261 60814261 single base substitution G A missense_variant S322L 965C>T PACA-CA 17 60814261 60814261 single base substitution G A missense_variant S323L 968C>T PACA-CA 17 60814261 60814261 single base substitution G A missense_variant S361L 1082C>T PACA-CA 17 60814261 60814261 single base substitution G A upstream_gene_variant PACA-CA 17 60817361 60817361 single base substitution G A intron_variant PACA-CA 17 60817361 60817361 single base substitution G A upstream_gene_variant PACA-CA 17 60818748 60818748 single base substitution C T intron_variant PACA-CA 17 60818748 60818748 single base substitution C T upstream_gene_variant PACA-CA 17 60821581 60821581 single base substitution C T intron_variant PACA-CA 17 60821784 60821784 single base substitution C A missense_variant R162I 485G>T PACA-CA 17 60821784 60821784 single base substitution C A missense_variant R163I 488G>T PACA-CA 17 60821784 60821784 single base substitution C A missense_variant R201I 602G>T PACA-CA 17 60821784 60821784 single base substitution C A missense_variant R31I 92G>T PACA-CA 17 60821856 60821856 single base substitution C G missense_variant R138T 413G>C PACA-CA 17 60821856 60821856 single base substitution C G missense_variant R139T 416G>C PACA-CA 17 60821856 60821856 single base substitution C G missense_variant R177T 530G>C PACA-CA 17 60821856 60821856 single base substitution C G missense_variant R7T 20G>C PACA-CA 17 60825490 60825490 single base substitution G T downstream_gene_variant PACA-CA 17 60825490 60825490 single base substitution G T intron_variant PACA-CA 17 60825490 60825490 single base substitution G T upstream_gene_variant PACA-CA 17 60826262 60826262 single base substitution C T downstream_gene_variant PACA-CA 17 60826262 60826262 single base substitution C T intron_variant PACA-CA 17 60826262 60826262 single base substitution C T upstream_gene_variant PACA-CA 17 60827974 60827974 single base substitution T A intron_variant PACA-CA 17 60828012 60828012 single base substitution G A intron_variant PACA-CA 17 60831991 60831991 single base substitution G A intron_variant PACA-CA 17 60833318 60833318 insertion of <=200bp - A intron_variant PACA-CA 17 60851002 60851002 single base substitution C T intron_variant PACA-CA 17 60853050 60853050 single base substitution A G intron_variant PACA-CA 17 60853422 60853422 single base substitution G T downstream_gene_variant PACA-CA 17 60853422 60853422 single base substitution G T intron_variant PACA-CA 17 60856406 60856406 single base substitution A C downstream_gene_variant PACA-CA 17 60856406 60856406 single base substitution A C intron_variant PACA-CA 17 60856664 60856664 single base substitution G C downstream_gene_variant PACA-CA 17 60856664 60856664 single base substitution G C intron_variant PACA-CA 17 60856826 60856826 single base substitution G C downstream_gene_variant PACA-CA 17 60856826 60856826 single base substitution G C intron_variant PACA-CA 17 60858510 60858510 single base substitution A G intron_variant PACA-CA 17 60861670 60861670 single base substitution G C downstream_gene_variant PACA-CA 17 60861670 60861670 single base substitution G C intron_variant PACA-CA 17 60863718 60863718 single base substitution G A downstream_gene_variant PACA-CA 17 60863718 60863718 single base substitution G A intron_variant PACA-CA 17 60866800 60866800 single base substitution C T intron_variant PACA-CA 17 60867548 60867548 single base substitution T C intron_variant PACA-CA 17 60873404 60873404 single base substitution C T intron_variant PACA-CA 17 60874377 60874377 deletion of <=200bp A - intron_variant PACA-CA 17 60875666 60875666 single base substitution G A intron_variant PACA-CA 17 60878591 60878591 single base substitution C T intron_variant PACA-CA 17 60879505 60879505 single base substitution C T intron_variant PACA-CA 17 60889638 60889638 single base substitution A T upstream_gene_variant PACA-CA 17 60889856 60889856 single base substitution T C upstream_gene_variant PAEN-AU 17 60786436 60786436 deletion of <=200bp G - intron_variant PAEN-AU 17 60800113 60800113 single base substitution G T intron_variant PAEN-AU 17 60810734 60810734 single base substitution C T intron_variant PAEN-AU 17 60825689 60825689 single base substitution C T downstream_gene_variant PAEN-AU 17 60825689 60825689 single base substitution C T intron_variant PAEN-AU 17 60825689 60825689 single base substitution C T upstream_gene_variant PAEN-AU 17 60848464 60848464 single base substitution C T intron_variant PAEN-AU 17 60862685 60862685 single base substitution T G downstream_gene_variant PAEN-AU 17 60862685 60862685 single base substitution T G intron_variant PAEN-IT 17 60792707 60792707 single base substitution A G intron_variant PAEN-IT 17 60800635 60800635 single base substitution G C intron_variant PBCA-DE 17 60777671 60777673 deletion of <=200bp TTA - downstream_gene_variant PBCA-DE 17 60782557 60782557 insertion of <=200bp - A 3_prime_UTR_variant PBCA-DE 17 60782557 60782557 insertion of <=200bp - A intron_variant PBCA-DE 17 60782557 60782557 insertion of <=200bp - A upstream_gene_variant PBCA-DE 17 60783785 60783785 single base substitution G A intron_variant PBCA-DE 17 60783785 60783785 single base substitution G A upstream_gene_variant PBCA-DE 17 60786395 60786395 single base substitution G T intron_variant PBCA-DE 17 60786863 60786863 insertion of <=200bp - A intron_variant PBCA-DE 17 60787695 60787695 insertion of <=200bp - A intron_variant PBCA-DE 17 60787886 60787886 single base substitution C T intron_variant PBCA-DE 17 60807206 60807206 single base substitution G A intron_variant PBCA-DE 17 60807559 60807559 insertion of <=200bp - A intron_variant PBCA-DE 17 60815896 60815896 single base substitution G A intron_variant PBCA-DE 17 60815896 60815896 single base substitution G A upstream_gene_variant PBCA-DE 17 60822259 60822259 single base substitution G A intron_variant PBCA-DE 17 60822259 60822259 single base substitution G A upstream_gene_variant PBCA-DE 17 60829191 60829191 single base substitution G T intron_variant PBCA-DE 17 60829450 60829450 single base substitution C T intron_variant PBCA-DE 17 60829451 60829451 single base substitution C T intron_variant PBCA-DE 17 60848994 60848994 single base substitution G A intron_variant PBCA-DE 17 60850967 60850967 single base substitution G T intron_variant PBCA-DE 17 60858789 60858796 deletion of <=200bp GTTTGCCT - intron_variant PBCA-DE 17 60858798 60858798 insertion of <=200bp - AAAAA intron_variant PBCA-DE 17 60859997 60859997 single base substitution C T intron_variant PBCA-DE 17 60868254 60868254 single base substitution T G intron_variant PBCA-DE 17 60870094 60870094 single base substitution T C intron_variant PBCA-DE 17 60886873 60886873 single base substitution C A upstream_gene_variant PRAD-CA 17 60774656 60774656 single base substitution G A downstream_gene_variant PRAD-CA 17 60780557 60780557 single base substitution A G downstream_gene_variant PRAD-CA 17 60780557 60780557 single base substitution A G intron_variant PRAD-CA 17 60785619 60785619 single base substitution C T intron_variant PRAD-CA 17 60785619 60785619 single base substitution C T upstream_gene_variant PRAD-CA 17 60788157 60788157 single base substitution A G intron_variant PRAD-CA 17 60790787 60790787 single base substitution A G intron_variant PRAD-CA 17 60819480 60819480 single base substitution A G intron_variant PRAD-CA 17 60844859 60844859 single base substitution C T intron_variant PRAD-CA 17 60859093 60859093 single base substitution G A intron_variant PRAD-CA 17 60863273 60863273 single base substitution C A downstream_gene_variant PRAD-CA 17 60863273 60863273 single base substitution C A intron_variant PRAD-UK 17 60780597 60780597 single base substitution G A downstream_gene_variant PRAD-UK 17 60780597 60780597 single base substitution G A intron_variant PRAD-UK 17 60782631 60782631 single base substitution C G 3_prime_UTR_variant PRAD-UK 17 60782631 60782631 single base substitution C G intron_variant PRAD-UK 17 60782631 60782631 single base substitution C G upstream_gene_variant PRAD-UK 17 60788756 60788756 single base substitution C G intron_variant PRAD-UK 17 60793256 60793256 single base substitution C T intron_variant PRAD-UK 17 60793482 60793482 single base substitution C T intron_variant PRAD-UK 17 60795489 60795489 single base substitution C G intron_variant PRAD-UK 17 60819468 60819468 single base substitution C T intron_variant PRAD-UK 17 60820118 60820118 single base substitution G A intron_variant PRAD-UK 17 60820934 60820934 single base substitution G A intron_variant PRAD-UK 17 60825807 60825807 single base substitution C G downstream_gene_variant PRAD-UK 17 60825807 60825807 single base substitution C G intron_variant PRAD-UK 17 60825807 60825807 single base substitution C G upstream_gene_variant PRAD-UK 17 60826242 60826242 single base substitution C A downstream_gene_variant PRAD-UK 17 60826242 60826242 single base substitution C A intron_variant PRAD-UK 17 60826242 60826242 single base substitution C A upstream_gene_variant PRAD-UK 17 60827109 60827109 single base substitution G A downstream_gene_variant PRAD-UK 17 60827109 60827109 single base substitution G A intron_variant PRAD-UK 17 60828906 60828906 single base substitution A T intron_variant PRAD-UK 17 60837862 60837862 single base substitution G A intron_variant PRAD-UK 17 60837862 60837862 single base substitution G A upstream_gene_variant PRAD-UK 17 60849711 60849711 single base substitution G T intron_variant PRAD-UK 17 60850089 60850089 single base substitution C T intron_variant PRAD-UK 17 60868755 60868755 single base substitution A C intron_variant PRAD-UK 17 60876955 60876955 deletion of <=200bp A - intron_variant PRAD-UK 17 60879583 60879583 deletion of <=200bp T - intron_variant PRAD-UK 17 60879667 60879667 single base substitution G A intron_variant PRAD-UK 17 60881685 60881685 single base substitution C T intron_variant PRAD-UK 17 60888694 60888694 single base substitution G T upstream_gene_variant READ-US 17 60814476 60814476 single base substitution G T missense_variant F119L 357C>A READ-US 17 60814476 60814476 single base substitution G T missense_variant F250L 750C>A READ-US 17 60814476 60814476 single base substitution G T missense_variant F251L 753C>A READ-US 17 60814476 60814476 single base substitution G T missense_variant F289L 867C>A READ-US 17 60814476 60814476 single base substitution G T upstream_gene_variant READ-US 17 60814549 60814549 single base substitution G A missense_variant S226F 677C>T READ-US 17 60814549 60814549 single base substitution G A missense_variant S227F 680C>T READ-US 17 60814549 60814549 single base substitution G A missense_variant S265F 794C>T READ-US 17 60814549 60814549 single base substitution G A missense_variant S95F 284C>T READ-US 17 60814549 60814549 single base substitution G A upstream_gene_variant READ-US 17 60821765 60821765 single base substitution A T synonymous_variant P168P 504T>A READ-US 17 60821765 60821765 single base substitution A T synonymous_variant P169P 507T>A READ-US 17 60821765 60821765 single base substitution A T synonymous_variant P207P 621T>A READ-US 17 60821765 60821765 single base substitution A T synonymous_variant P37P 111T>A RECA-EU 17 60774973 60774973 single base substitution C T downstream_gene_variant RECA-EU 17 60811238 60811238 single base substitution T C intron_variant RECA-EU 17 60833985 60833985 single base substitution C A intron_variant RECA-EU 17 60846813 60846813 single base substitution C T intron_variant RECA-EU 17 60854331 60854331 single base substitution A T downstream_gene_variant RECA-EU 17 60854331 60854331 single base substitution A T intron_variant RECA-EU 17 60858951 60858951 single base substitution C A intron_variant RECA-EU 17 60872743 60872743 single base substitution A G intron_variant RECA-EU 17 60877760 60877760 single base substitution A T intron_variant RECA-EU 17 60881027 60881027 single base substitution C T intron_variant RECA-EU 17 60888583 60888583 single base substitution G A upstream_gene_variant RECA-EU 17 60889384 60889384 single base substitution C G upstream_gene_variant SKCA-BR 17 60773712 60773712 single base substitution T G downstream_gene_variant SKCA-BR 17 60774072 60774072 single base substitution C T downstream_gene_variant SKCA-BR 17 60774817 60774817 single base substitution G A downstream_gene_variant SKCA-BR 17 60775006 60775006 single base substitution G A downstream_gene_variant SKCA-BR 17 60777261 60777261 single base substitution G A downstream_gene_variant SKCA-BR 17 60778332 60778332 single base substitution C A downstream_gene_variant SKCA-BR 17 60780823 60780823 single base substitution G A downstream_gene_variant SKCA-BR 17 60780823 60780823 single base substitution G A intron_variant SKCA-BR 17 60780823 60780823 single base substitution G A upstream_gene_variant SKCA-BR 17 60781008 60781008 single base substitution A G downstream_gene_variant SKCA-BR 17 60781008 60781008 single base substitution A G intron_variant SKCA-BR 17 60781008 60781008 single base substitution A G upstream_gene_variant SKCA-BR 17 60781012 60781012 single base substitution T G downstream_gene_variant SKCA-BR 17 60781012 60781012 single base substitution T G intron_variant SKCA-BR 17 60781012 60781012 single base substitution T G upstream_gene_variant SKCA-BR 17 60781406 60781406 single base substitution A G downstream_gene_variant SKCA-BR 17 60781406 60781406 single base substitution A G intron_variant SKCA-BR 17 60781406 60781406 single base substitution A G upstream_gene_variant SKCA-BR 17 60785134 60785134 single base substitution T C intron_variant SKCA-BR 17 60785134 60785134 single base substitution T C upstream_gene_variant SKCA-BR 17 60785619 60785619 single base substitution C T intron_variant SKCA-BR 17 60785619 60785619 single base substitution C T upstream_gene_variant SKCA-BR 17 60788044 60788044 single base substitution C T intron_variant SKCA-BR 17 60789194 60789194 single base substitution G A intron_variant SKCA-BR 17 60791059 60791068 deletion of <=200bp CGAGGTTTTG - intron_variant SKCA-BR 17 60791167 60791167 single base substitution G A intron_variant SKCA-BR 17 60793396 60793396 single base substitution G C intron_variant SKCA-BR 17 60794905 60794905 single base substitution C T intron_variant SKCA-BR 17 60795145 60795145 single base substitution C T intron_variant SKCA-BR 17 60797122 60797122 single base substitution T G intron_variant SKCA-BR 17 60797348 60797348 single base substitution C T intron_variant SKCA-BR 17 60797461 60797461 single base substitution C T intron_variant SKCA-BR 17 60797512 60797512 single base substitution T C intron_variant SKCA-BR 17 60798887 60798890 deletion of <=200bp CCAA - intron_variant SKCA-BR 17 60800413 60800413 single base substitution A G intron_variant SKCA-BR 17 60806055 60806055 single base substitution G A intron_variant SKCA-BR 17 60806207 60806207 single base substitution G A intron_variant SKCA-BR 17 60807658 60807658 single base substitution C T intron_variant SKCA-BR 17 60808225 60808225 single base substitution G A intron_variant SKCA-BR 17 60810004 60810004 single base substitution G A intron_variant SKCA-BR 17 60810462 60810462 single base substitution G A intron_variant SKCA-BR 17 60813146 60813146 single base substitution A T intron_variant SKCA-BR 17 60814024 60814024 single base substitution G A missense_variant S270L 809C>T SKCA-BR 17 60814024 60814024 single base substitution G A missense_variant S401L 1202C>T SKCA-BR 17 60814024 60814024 single base substitution G A missense_variant S402L 1205C>T SKCA-BR 17 60814024 60814024 single base substitution G A missense_variant S440L 1319C>T SKCA-BR 17 60814024 60814024 single base substitution G A upstream_gene_variant SKCA-BR 17 60814396 60814396 single base substitution G A missense_variant S146F 437C>T SKCA-BR 17 60814396 60814396 single base substitution G A missense_variant S277F 830C>T SKCA-BR 17 60814396 60814396 single base substitution G A missense_variant S278F 833C>T SKCA-BR 17 60814396 60814396 single base substitution G A missense_variant S316F 947C>T SKCA-BR 17 60814396 60814396 single base substitution G A upstream_gene_variant SKCA-BR 17 60815421 60815421 insertion of <=200bp - TCACA intron_variant SKCA-BR 17 60815421 60815421 insertion of <=200bp - TCACA upstream_gene_variant SKCA-BR 17 60815504 60815504 single base substitution C T intron_variant SKCA-BR 17 60815504 60815504 single base substitution C T upstream_gene_variant SKCA-BR 17 60816868 60816868 single base substitution G A intron_variant SKCA-BR 17 60816868 60816868 single base substitution G A upstream_gene_variant SKCA-BR 17 60817410 60817412 deletion of <=200bp AGT - intron_variant SKCA-BR 17 60817410 60817412 deletion of <=200bp AGT - upstream_gene_variant SKCA-BR 17 60817440 60817444 deletion of <=200bp TGTGC - intron_variant SKCA-BR 17 60817440 60817444 deletion of <=200bp TGTGC - upstream_gene_variant SKCA-BR 17 60817813 60817813 single base substitution C T intron_variant SKCA-BR 17 60817813 60817813 single base substitution C T upstream_gene_variant SKCA-BR 17 60819710 60819710 single base substitution T A intron_variant SKCA-BR 17 60820065 60820065 single base substitution C T intron_variant SKCA-BR 17 60820952 60820952 single base substitution C T intron_variant SKCA-BR 17 60821507 60821507 single base substitution T C intron_variant SKCA-BR 17 60822364 60822364 insertion of <=200bp - CAAA downstream_gene_variant SKCA-BR 17 60822364 60822364 insertion of <=200bp - CAAA intron_variant SKCA-BR 17 60822364 60822364 insertion of <=200bp - CAAA upstream_gene_variant SKCA-BR 17 60823348 60823348 single base substitution G A downstream_gene_variant SKCA-BR 17 60823348 60823348 single base substitution G A intron_variant SKCA-BR 17 60823348 60823348 single base substitution G A upstream_gene_variant SKCA-BR 17 60824158 60824158 single base substitution T C downstream_gene_variant SKCA-BR 17 60824158 60824158 single base substitution T C intron_variant SKCA-BR 17 60824158 60824158 single base substitution T C upstream_gene_variant SKCA-BR 17 60824166 60824166 single base substitution A C downstream_gene_variant SKCA-BR 17 60824166 60824166 single base substitution A C intron_variant SKCA-BR 17 60824166 60824166 single base substitution A C upstream_gene_variant SKCA-BR 17 60825766 60825766 insertion of <=200bp - AAAAC downstream_gene_variant SKCA-BR 17 60825766 60825766 insertion of <=200bp - AAAAC intron_variant SKCA-BR 17 60825766 60825766 insertion of <=200bp - AAAAC upstream_gene_variant SKCA-BR 17 60827249 60827249 single base substitution G A downstream_gene_variant SKCA-BR 17 60827249 60827249 single base substitution G A intron_variant SKCA-BR 17 60834098 60834098 single base substitution G A intron_variant SKCA-BR 17 60836533 60836533 single base substitution T C intron_variant SKCA-BR 17 60839134 60839134 single base substitution G A intron_variant SKCA-BR 17 60839134 60839134 single base substitution G A upstream_gene_variant SKCA-BR 17 60840402 60840402 single base substitution C T intron_variant SKCA-BR 17 60840402 60840402 single base substitution C T upstream_gene_variant SKCA-BR 17 60843768 60843768 single base substitution G A intron_variant SKCA-BR 17 60844067 60844067 single base substitution C T intron_variant SKCA-BR 17 60844859 60844859 single base substitution C T intron_variant SKCA-BR 17 60845071 60845071 single base substitution C G intron_variant SKCA-BR 17 60846610 60846610 single base substitution C T intron_variant SKCA-BR 17 60850101 60850101 single base substitution G A intron_variant SKCA-BR 17 60850469 60850469 single base substitution G A intron_variant SKCA-BR 17 60851533 60851533 single base substitution G A intron_variant SKCA-BR 17 60853241 60853241 single base substitution G A intron_variant SKCA-BR 17 60853252 60853252 single base substitution A C intron_variant SKCA-BR 17 60854902 60854902 single base substitution A T downstream_gene_variant SKCA-BR 17 60854902 60854902 single base substitution A T intron_variant SKCA-BR 17 60855660 60855660 single base substitution G A downstream_gene_variant SKCA-BR 17 60855660 60855660 single base substitution G A intron_variant SKCA-BR 17 60856415 60856415 single base substitution C T downstream_gene_variant SKCA-BR 17 60856415 60856415 single base substitution C T intron_variant SKCA-BR 17 60856885 60856885 single base substitution G A downstream_gene_variant SKCA-BR 17 60856885 60856885 single base substitution G A intron_variant SKCA-BR 17 60858348 60858348 single base substitution G A exon_variant SKCA-BR 17 60858348 60858348 single base substitution G A intron_variant SKCA-BR 17 60858716 60858716 single base substitution C T intron_variant SKCA-BR 17 60858728 60858728 single base substitution G A intron_variant SKCA-BR 17 60859363 60859363 single base substitution G A intron_variant SKCA-BR 17 60860576 60860576 single base substitution T A intron_variant SKCA-BR 17 60861143 60861143 single base substitution G A downstream_gene_variant SKCA-BR 17 60861143 60861143 single base substitution G A intron_variant SKCA-BR 17 60861166 60861166 single base substitution C T downstream_gene_variant SKCA-BR 17 60861166 60861166 single base substitution C T intron_variant SKCA-BR 17 60861368 60861368 single base substitution C T downstream_gene_variant SKCA-BR 17 60861368 60861368 single base substitution C T intron_variant SKCA-BR 17 60862435 60862435 single base substitution C T downstream_gene_variant SKCA-BR 17 60862435 60862435 single base substitution C T intron_variant SKCA-BR 17 60863544 60863544 single base substitution C T downstream_gene_variant SKCA-BR 17 60863544 60863544 single base substitution C T intron_variant SKCA-BR 17 60863765 60863765 single base substitution G A downstream_gene_variant SKCA-BR 17 60863765 60863765 single base substitution G A intron_variant SKCA-BR 17 60864226 60864226 single base substitution C T downstream_gene_variant SKCA-BR 17 60864226 60864226 single base substitution C T intron_variant SKCA-BR 17 60864440 60864440 single base substitution G A downstream_gene_variant SKCA-BR 17 60864440 60864440 single base substitution G A intron_variant SKCA-BR 17 60864474 60864474 single base substitution G A downstream_gene_variant SKCA-BR 17 60864474 60864474 single base substitution G A intron_variant SKCA-BR 17 60864949 60864949 single base substitution G A downstream_gene_variant SKCA-BR 17 60864949 60864949 single base substitution G A intron_variant SKCA-BR 17 60866876 60866876 single base substitution T A intron_variant SKCA-BR 17 60867434 60867434 single base substitution C T intron_variant SKCA-BR 17 60869438 60869438 single base substitution C T intron_variant SKCA-BR 17 60870076 60870076 single base substitution T C intron_variant SKCA-BR 17 60870361 60870361 single base substitution C T intron_variant SKCA-BR 17 60870816 60870816 single base substitution C T intron_variant SKCA-BR 17 60871221 60871221 single base substitution C T intron_variant SKCA-BR 17 60873749 60873749 single base substitution C T intron_variant SKCA-BR 17 60874539 60874539 single base substitution A G intron_variant SKCA-BR 17 60875554 60875554 single base substitution A G intron_variant SKCA-BR 17 60878039 60878039 single base substitution C T intron_variant SKCA-BR 17 60881303 60881303 single base substitution G A intron_variant SKCA-BR 17 60882344 60882344 single base substitution G T 5_prime_UTR_variant SKCA-BR 17 60882344 60882344 single base substitution G T intron_variant SKCA-BR 17 60882789 60882789 single base substitution G A intron_variant SKCA-BR 17 60883710 60883710 single base substitution G A intron_variant SKCA-BR 17 60884426 60884426 single base substitution G A intron_variant SKCA-BR 17 60884426 60884426 single base substitution G A upstream_gene_variant SKCA-BR 17 60885713 60885713 single base substitution C T upstream_gene_variant SKCA-BR 17 60885716 60885716 single base substitution G C upstream_gene_variant SKCA-BR 17 60886806 60886806 single base substitution G A upstream_gene_variant SKCA-BR 17 60887822 60887822 single base substitution C T upstream_gene_variant SKCA-BR 17 60888029 60888029 single base substitution G A upstream_gene_variant SKCA-BR 17 60889321 60889321 single base substitution G A upstream_gene_variant SKCA-BR 17 60890283 60890283 single base substitution G A upstream_gene_variant SKCM-US 17 60779114 60779114 single base substitution C T downstream_gene_variant SKCM-US 17 60779114 60779114 single base substitution C T exon_variant SKCM-US 17 60779114 60779114 single base substitution C T intron_variant SKCM-US 17 60779114 60779114 single base substitution C T missense_variant E793K 2377G>A SKCM-US 17 60779114 60779114 single base substitution C T missense_variant E831K 2491G>A SKCM-US 17 60779114 60779114 single base substitution C T synonymous_variant R646R 1938G>A SKCM-US 17 60779115 60779115 single base substitution C T downstream_gene_variant SKCM-US 17 60779115 60779115 single base substitution C T exon_variant SKCM-US 17 60779115 60779115 single base substitution C T intron_variant SKCM-US 17 60779115 60779115 single base substitution C T missense_variant R646Q 1937G>A SKCM-US 17 60779115 60779115 single base substitution C T synonymous_variant S792S 2376G>A SKCM-US 17 60779115 60779115 single base substitution C T synonymous_variant S830S 2490G>A SKCM-US 17 60788599 60788599 single base substitution C T intron_variant SKCM-US 17 60788599 60788599 single base substitution C T missense_variant R642K 1925G>A SKCM-US 17 60788599 60788599 single base substitution C T missense_variant R773K 2318G>A SKCM-US 17 60788599 60788599 single base substitution C T missense_variant R774K 2321G>A SKCM-US 17 60788599 60788599 single base substitution C T missense_variant R812K 2435G>A SKCM-US 17 60788641 60788641 single base substitution C T intron_variant SKCM-US 17 60788641 60788641 single base substitution C T missense_variant R628K 1883G>A SKCM-US 17 60788641 60788641 single base substitution C T missense_variant R759K 2276G>A SKCM-US 17 60788641 60788641 single base substitution C T missense_variant R760K 2279G>A SKCM-US 17 60788641 60788641 single base substitution C T missense_variant R798K 2393G>A SKCM-US 17 60799913 60799913 single base substitution C T intron_variant SKCM-US 17 60799913 60799913 single base substitution C T missense_variant G585D 1754G>A SKCM-US 17 60799913 60799913 single base substitution C T missense_variant G716D 2147G>A SKCM-US 17 60799913 60799913 single base substitution C T missense_variant G717D 2150G>A SKCM-US 17 60799913 60799913 single base substitution C T missense_variant G755D 2264G>A SKCM-US 17 60802403 60802403 single base substitution C A intron_variant SKCM-US 17 60802403 60802403 single base substitution C A missense_variant G535V 1604G>T SKCM-US 17 60802403 60802403 single base substitution C A missense_variant G666V 1997G>T SKCM-US 17 60802403 60802403 single base substitution C A missense_variant G667V 2000G>T SKCM-US 17 60802403 60802403 single base substitution C A missense_variant G705V 2114G>T SKCM-US 17 60802406 60802406 single base substitution C T intron_variant SKCM-US 17 60802406 60802406 single base substitution C T missense_variant G534E 1601G>A SKCM-US 17 60802406 60802406 single base substitution C T missense_variant G665E 1994G>A SKCM-US 17 60802406 60802406 single base substitution C T missense_variant G666E 1997G>A SKCM-US 17 60802406 60802406 single base substitution C T missense_variant G704E 2111G>A SKCM-US 17 60802443 60802443 single base substitution C T intron_variant SKCM-US 17 60802443 60802443 single base substitution C T missense_variant E522K 1564G>A SKCM-US 17 60802443 60802443 single base substitution C T missense_variant E653K 1957G>A SKCM-US 17 60802443 60802443 single base substitution C T missense_variant E654K 1960G>A SKCM-US 17 60802443 60802443 single base substitution C T missense_variant E692K 2074G>A SKCM-US 17 60813350 60813350 single base substitution C T intron_variant SKCM-US 17 60813350 60813350 single base substitution C T missense_variant E495K 1483G>A SKCM-US 17 60813350 60813350 single base substitution C T missense_variant E626K 1876G>A SKCM-US 17 60813350 60813350 single base substitution C T missense_variant E627K 1879G>A SKCM-US 17 60813350 60813350 single base substitution C T missense_variant E665K 1993G>A SKCM-US 17 60813389 60813389 single base substitution C T intron_variant SKCM-US 17 60813389 60813389 single base substitution C T missense_variant D482N 1444G>A SKCM-US 17 60813389 60813389 single base substitution C T missense_variant D613N 1837G>A SKCM-US 17 60813389 60813389 single base substitution C T missense_variant D614N 1840G>A SKCM-US 17 60813389 60813389 single base substitution C T missense_variant D652N 1954G>A SKCM-US 17 60813480 60813480 single base substitution C T intron_variant SKCM-US 17 60813480 60813480 single base substitution C T missense_variant M451I 1353G>A SKCM-US 17 60813480 60813480 single base substitution C T missense_variant M582I 1746G>A SKCM-US 17 60813480 60813480 single base substitution C T missense_variant M583I 1749G>A SKCM-US 17 60813480 60813480 single base substitution C T missense_variant M621I 1863G>A SKCM-US 17 60813510 60813510 single base substitution C T intron_variant SKCM-US 17 60813510 60813510 single base substitution C T synonymous_variant V441V 1323G>A SKCM-US 17 60813510 60813510 single base substitution C T synonymous_variant V572V 1716G>A SKCM-US 17 60813510 60813510 single base substitution C T synonymous_variant V573V 1719G>A SKCM-US 17 60813510 60813510 single base substitution C T synonymous_variant V611V 1833G>A SKCM-US 17 60813545 60813545 single base substitution G A intron_variant SKCM-US 17 60813545 60813545 single base substitution G A missense_variant L430F 1288C>T SKCM-US 17 60813545 60813545 single base substitution G A missense_variant L561F 1681C>T SKCM-US 17 60813545 60813545 single base substitution G A missense_variant L562F 1684C>T SKCM-US 17 60813545 60813545 single base substitution G A missense_variant L600F 1798C>T SKCM-US 17 60813617 60813617 single base substitution C T intron_variant SKCM-US 17 60813617 60813617 single base substitution C T missense_variant E406K 1216G>A SKCM-US 17 60813617 60813617 single base substitution C T missense_variant E537K 1609G>A SKCM-US 17 60813617 60813617 single base substitution C T missense_variant E538K 1612G>A SKCM-US 17 60813617 60813617 single base substitution C T missense_variant E576K 1726G>A SKCM-US 17 60813721 60813721 single base substitution C T missense_variant G371E 1112G>A SKCM-US 17 60813721 60813721 single base substitution C T missense_variant G502E 1505G>A SKCM-US 17 60813721 60813721 single base substitution C T missense_variant G503E 1508G>A SKCM-US 17 60813721 60813721 single base substitution C T missense_variant G53E 158G>A SKCM-US 17 60813721 60813721 single base substitution C T missense_variant G541E 1622G>A SKCM-US 17 60813770 60813770 single base substitution C T missense_variant V355I 1063G>A SKCM-US 17 60813770 60813770 single base substitution C T missense_variant V37I 109G>A SKCM-US 17 60813770 60813770 single base substitution C T missense_variant V486I 1456G>A SKCM-US 17 60813770 60813770 single base substitution C T missense_variant V487I 1459G>A SKCM-US 17 60813770 60813770 single base substitution C T missense_variant V525I 1573G>A SKCM-US 17 60813772 60813772 single base substitution G A missense_variant P354L 1061C>T SKCM-US 17 60813772 60813772 single base substitution G A missense_variant P36L 107C>T SKCM-US 17 60813772 60813772 single base substitution G A missense_variant P485L 1454C>T SKCM-US 17 60813772 60813772 single base substitution G A missense_variant P486L 1457C>T SKCM-US 17 60813772 60813772 single base substitution G A missense_variant P524L 1571C>T SKCM-US 17 60813988 60813988 single base substitution C G missense_variant G282A 845G>C SKCM-US 17 60813988 60813988 single base substitution C G missense_variant G413A 1238G>C SKCM-US 17 60813988 60813988 single base substitution C G missense_variant G414A 1241G>C SKCM-US 17 60813988 60813988 single base substitution C G missense_variant G452A 1355G>C SKCM-US 17 60813988 60813988 single base substitution C G upstream_gene_variant SKCM-US 17 60814014 60814014 single base substitution G A synonymous_variant T273T 819C>T SKCM-US 17 60814014 60814014 single base substitution G A synonymous_variant T404T 1212C>T SKCM-US 17 60814014 60814014 single base substitution G A synonymous_variant T405T 1215C>T SKCM-US 17 60814014 60814014 single base substitution G A synonymous_variant T443T 1329C>T SKCM-US 17 60814014 60814014 single base substitution G A upstream_gene_variant SKCM-US 17 60814024 60814024 single base substitution G A missense_variant S270L 809C>T SKCM-US 17 60814024 60814024 single base substitution G A missense_variant S401L 1202C>T SKCM-US 17 60814024 60814024 single base substitution G A missense_variant S402L 1205C>T SKCM-US 17 60814024 60814024 single base substitution G A missense_variant S440L 1319C>T SKCM-US 17 60814024 60814024 single base substitution G A upstream_gene_variant SKCM-US 17 60814083 60814083 single base substitution C T synonymous_variant R250R 750G>A SKCM-US 17 60814083 60814083 single base substitution C T synonymous_variant R381R 1143G>A SKCM-US 17 60814083 60814083 single base substitution C T synonymous_variant R382R 1146G>A SKCM-US 17 60814083 60814083 single base substitution C T synonymous_variant R420R 1260G>A SKCM-US 17 60814083 60814083 single base substitution C T upstream_gene_variant SKCM-US 17 60814171 60814171 single base substitution G A missense_variant S221L 662C>T SKCM-US 17 60814171 60814171 single base substitution G A missense_variant S352L 1055C>T SKCM-US 17 60814171 60814171 single base substitution G A missense_variant S353L 1058C>T SKCM-US 17 60814171 60814171 single base substitution G A missense_variant S391L 1172C>T SKCM-US 17 60814171 60814171 single base substitution G A upstream_gene_variant SKCM-US 17 60814205 60814205 single base substitution G A missense_variant H210Y 628C>T SKCM-US 17 60814205 60814205 single base substitution G A missense_variant H341Y 1021C>T SKCM-US 17 60814205 60814205 single base substitution G A missense_variant H342Y 1024C>T SKCM-US 17 60814205 60814205 single base substitution G A missense_variant H380Y 1138C>T SKCM-US 17 60814205 60814205 single base substitution G A upstream_gene_variant SKCM-US 17 60814267 60814267 single base substitution C A missense_variant G189V 566G>T SKCM-US 17 60814267 60814267 single base substitution C A missense_variant G320V 959G>T SKCM-US 17 60814267 60814267 single base substitution C A missense_variant G321V 962G>T SKCM-US 17 60814267 60814267 single base substitution C A missense_variant G359V 1076G>T SKCM-US 17 60814267 60814267 single base substitution C A upstream_gene_variant SKCM-US 17 60814282 60814282 single base substitution C T missense_variant R184K 551G>A SKCM-US 17 60814282 60814282 single base substitution C T missense_variant R315K 944G>A SKCM-US 17 60814282 60814282 single base substitution C T missense_variant R316K 947G>A SKCM-US 17 60814282 60814282 single base substitution C T missense_variant R354K 1061G>A SKCM-US 17 60814282 60814282 single base substitution C T upstream_gene_variant SKCM-US 17 60814350 60814350 single base substitution C T synonymous_variant E161E 483G>A SKCM-US 17 60814350 60814350 single base substitution C T synonymous_variant E292E 876G>A SKCM-US 17 60814350 60814350 single base substitution C T synonymous_variant E293E 879G>A SKCM-US 17 60814350 60814350 single base substitution C T synonymous_variant E331E 993G>A SKCM-US 17 60814350 60814350 single base substitution C T upstream_gene_variant SKCM-US 17 60814370 60814370 single base substitution C T missense_variant E155K 463G>A SKCM-US 17 60814370 60814370 single base substitution C T missense_variant E286K 856G>A SKCM-US 17 60814370 60814370 single base substitution C T missense_variant E287K 859G>A SKCM-US 17 60814370 60814370 single base substitution C T missense_variant E325K 973G>A SKCM-US 17 60814370 60814370 single base substitution C T upstream_gene_variant SKCM-US 17 60814506 60814506 single base substitution T A synonymous_variant G109G 327A>T SKCM-US 17 60814506 60814506 single base substitution T A synonymous_variant G240G 720A>T SKCM-US 17 60814506 60814506 single base substitution T A synonymous_variant G241G 723A>T SKCM-US 17 60814506 60814506 single base substitution T A synonymous_variant G279G 837A>T SKCM-US 17 60814506 60814506 single base substitution T A upstream_gene_variant SKCM-US 17 60814507 60814507 single base substitution C T missense_variant G109E 326G>A SKCM-US 17 60814507 60814507 single base substitution C T missense_variant G240E 719G>A SKCM-US 17 60814507 60814507 single base substitution C T missense_variant G241E 722G>A SKCM-US 17 60814507 60814507 single base substitution C T missense_variant G279E 836G>A SKCM-US 17 60814507 60814507 single base substitution C T upstream_gene_variant SKCM-US 17 60814508 60814508 single base substitution C T missense_variant G109R 325G>A SKCM-US 17 60814508 60814508 single base substitution C T missense_variant G240R 718G>A SKCM-US 17 60814508 60814508 single base substitution C T missense_variant G241R 721G>A SKCM-US 17 60814508 60814508 single base substitution C T missense_variant G279R 835G>A SKCM-US 17 60814508 60814508 single base substitution C T upstream_gene_variant SKCM-US 17 60814521 60814521 single base substitution G A synonymous_variant S104S 312C>T SKCM-US 17 60814521 60814521 single base substitution G A synonymous_variant S235S 705C>T SKCM-US 17 60814521 60814521 single base substitution G A synonymous_variant S236S 708C>T SKCM-US 17 60814521 60814521 single base substitution G A synonymous_variant S274S 822C>T SKCM-US 17 60814521 60814521 single base substitution G A upstream_gene_variant SKCM-US 17 60821749 60821749 single base substitution G A missense_variant P174S 520C>T SKCM-US 17 60821749 60821749 single base substitution G A missense_variant P175S 523C>T SKCM-US 17 60821749 60821749 single base substitution G A missense_variant P213S 637C>T SKCM-US 17 60821749 60821749 single base substitution G A missense_variant P43S 127C>T SKCM-US 17 60821803 60821803 single base substitution C T missense_variant A156T 466G>A SKCM-US 17 60821803 60821803 single base substitution C T missense_variant A157T 469G>A SKCM-US 17 60821803 60821803 single base substitution C T missense_variant A195T 583G>A SKCM-US 17 60821803 60821803 single base substitution C T missense_variant A25T 73G>A SKCM-US 17 60821840 60821840 single base substitution C T synonymous_variant R12R 36G>A SKCM-US 17 60821840 60821840 single base substitution C T synonymous_variant R143R 429G>A SKCM-US 17 60821840 60821840 single base substitution C T synonymous_variant R144R 432G>A SKCM-US 17 60821840 60821840 single base substitution C T synonymous_variant R182R 546G>A SKCM-US 17 60837199 60837199 single base substitution G A missense_variant P127S 379C>T SKCM-US 17 60837199 60837199 single base substitution G A missense_variant P52S 154C>T SKCM-US 17 60879061 60879061 single base substitution G A exon_variant SKCM-US 17 60879061 60879061 single base substitution G A synonymous_variant F12F 36C>T STAD-US 17 60802447 60802447 single base substitution G A intron_variant STAD-US 17 60802447 60802447 single base substitution G A synonymous_variant S520S 1560C>T STAD-US 17 60802447 60802447 single base substitution G A synonymous_variant S651S 1953C>T STAD-US 17 60802447 60802447 single base substitution G A synonymous_variant S652S 1956C>T STAD-US 17 60802447 60802447 single base substitution G A synonymous_variant S690S 2070C>T STAD-US 17 60813653 60813653 single base substitution C T intron_variant STAD-US 17 60813653 60813653 single base substitution C T missense_variant E394K 1180G>A STAD-US 17 60813653 60813653 single base substitution C T missense_variant E525K 1573G>A STAD-US 17 60813653 60813653 single base substitution C T missense_variant E526K 1576G>A STAD-US 17 60813653 60813653 single base substitution C T missense_variant E564K 1690G>A STAD-US 17 60813998 60813998 single base substitution G T missense_variant Q279K 835C>A STAD-US 17 60813998 60813998 single base substitution G T missense_variant Q410K 1228C>A STAD-US 17 60813998 60813998 single base substitution G T missense_variant Q411K 1231C>A STAD-US 17 60813998 60813998 single base substitution G T missense_variant Q449K 1345C>A STAD-US 17 60813998 60813998 single base substitution G T upstream_gene_variant STAD-US 17 60814271 60814271 single base substitution C A missense_variant G188W 562G>T STAD-US 17 60814271 60814271 single base substitution C A missense_variant G319W 955G>T STAD-US 17 60814271 60814271 single base substitution C A missense_variant G320W 958G>T STAD-US 17 60814271 60814271 single base substitution C A missense_variant G358W 1072G>T STAD-US 17 60814271 60814271 single base substitution C A upstream_gene_variant STAD-US 17 60814349 60814349 deletion of <=200bp C - frameshift_variant E162 STAD-US 17 60814349 60814349 deletion of <=200bp C - frameshift_variant E293 STAD-US 17 60814349 60814349 deletion of <=200bp C - frameshift_variant E294 STAD-US 17 60814349 60814349 deletion of <=200bp C - frameshift_variant E332 STAD-US 17 60814349 60814349 deletion of <=200bp C - upstream_gene_variant STAD-US 17 60814662 60814662 single base substitution A G synonymous_variant C188C 564T>C STAD-US 17 60814662 60814662 single base substitution A G synonymous_variant C189C 567T>C STAD-US 17 60814662 60814662 single base substitution A G synonymous_variant C227C 681T>C STAD-US 17 60814662 60814662 single base substitution A G synonymous_variant C57C 171T>C STAD-US 17 60814662 60814662 single base substitution A G upstream_gene_variant STAD-US 17 60837243 60837243 single base substitution A G missense_variant M112T 335T>C STAD-US 17 60837243 60837243 single base substitution A G missense_variant M37T 110T>C STAD-US 17 60837269 60837269 single base substitution T C synonymous_variant S103S 309A>G STAD-US 17 60837269 60837269 single base substitution T C synonymous_variant S28S 84A>G STAD-US 17 60879031 60879031 single base substitution C T exon_variant STAD-US 17 60879031 60879031 single base substitution C T synonymous_variant Q22Q 66G>A STAD-US 17 60879085 60879085 single base substitution G A exon_variant STAD-US 17 60879085 60879085 single base substitution G A synonymous_variant D4D 12C>T THCA-US 17 60837359 60837359 single base substitution A C missense_variant S73R 219T>G THCA-US 17 60837359 60837359 single base substitution A C upstream_gene_variant UCEC-US 17 60779070 60779070 single base substitution G A downstream_gene_variant UCEC-US 17 60779070 60779070 single base substitution G A exon_variant UCEC-US 17 60779070 60779070 single base substitution G A intron_variant UCEC-US 17 60779070 60779070 single base substitution G A missense_variant S661L 1982C>T UCEC-US 17 60779070 60779070 single base substitution G A synonymous_variant V807V 2421C>T UCEC-US 17 60779070 60779070 single base substitution G A synonymous_variant V845V 2535C>T UCEC-US 17 60782906 60782906 single base substitution T G intron_variant UCEC-US 17 60782906 60782906 single base substitution T G missense_variant N788H 2362A>C UCEC-US 17 60782906 60782906 single base substitution T G missense_variant N789H 2365A>C UCEC-US 17 60782906 60782906 single base substitution T G missense_variant N827H 2479A>C UCEC-US 17 60782906 60782906 single base substitution T G upstream_gene_variant UCEC-US 17 60799873 60799873 single base substitution G T intron_variant UCEC-US 17 60799873 60799873 single base substitution G T missense_variant F598L 1794C>A UCEC-US 17 60799873 60799873 single base substitution G T missense_variant F729L 2187C>A UCEC-US 17 60799873 60799873 single base substitution G T missense_variant F730L 2190C>A UCEC-US 17 60799873 60799873 single base substitution G T missense_variant F768L 2304C>A UCEC-US 17 60799912 60799912 single base substitution G A intron_variant UCEC-US 17 60799912 60799912 single base substitution G A synonymous_variant G585G 1755C>T UCEC-US 17 60799912 60799912 single base substitution G A synonymous_variant G716G 2148C>T UCEC-US 17 60799912 60799912 single base substitution G A synonymous_variant G717G 2151C>T UCEC-US 17 60799912 60799912 single base substitution G A synonymous_variant G755G 2265C>T UCEC-US 17 60813387 60813387 single base substitution A G intron_variant UCEC-US 17 60813387 60813387 single base substitution A G synonymous_variant D482D 1446T>C UCEC-US 17 60813387 60813387 single base substitution A G synonymous_variant D613D 1839T>C UCEC-US 17 60813387 60813387 single base substitution A G synonymous_variant D614D 1842T>C UCEC-US 17 60813387 60813387 single base substitution A G synonymous_variant D652D 1956T>C UCEC-US 17 60813420 60813420 single base substitution G T intron_variant UCEC-US 17 60813420 60813420 single base substitution G T missense_variant F471L 1413C>A UCEC-US 17 60813420 60813420 single base substitution G T missense_variant F602L 1806C>A UCEC-US 17 60813420 60813420 single base substitution G T missense_variant F603L 1809C>A UCEC-US 17 60813420 60813420 single base substitution G T missense_variant F641L 1923C>A UCEC-US 17 60813461 60813461 single base substitution G A intron_variant UCEC-US 17 60813461 60813461 single base substitution G A missense_variant H458Y 1372C>T UCEC-US 17 60813461 60813461 single base substitution G A missense_variant H589Y 1765C>T UCEC-US 17 60813461 60813461 single base substitution G A missense_variant H590Y 1768C>T UCEC-US 17 60813461 60813461 single base substitution G A missense_variant H628Y 1882C>T UCEC-US 17 60813545 60813545 single base substitution G T intron_variant UCEC-US 17 60813545 60813545 single base substitution G T missense_variant L430I 1288C>A UCEC-US 17 60813545 60813545 single base substitution G T missense_variant L561I 1681C>A UCEC-US 17 60813545 60813545 single base substitution G T missense_variant L562I 1684C>A UCEC-US 17 60813545 60813545 single base substitution G T missense_variant L600I 1798C>A UCEC-US 17 60813617 60813617 single base substitution C T intron_variant UCEC-US 17 60813617 60813617 single base substitution C T missense_variant E406K 1216G>A UCEC-US 17 60813617 60813617 single base substitution C T missense_variant E537K 1609G>A UCEC-US 17 60813617 60813617 single base substitution C T missense_variant E538K 1612G>A UCEC-US 17 60813617 60813617 single base substitution C T missense_variant E576K 1726G>A UCEC-US 17 60813880 60813880 single base substitution G T missense_variant S318Y 953C>A UCEC-US 17 60813880 60813880 single base substitution G T missense_variant S449Y 1346C>A UCEC-US 17 60813880 60813880 single base substitution G T missense_variant S450Y 1349C>A UCEC-US 17 60813880 60813880 single base substitution G T missense_variant S488Y 1463C>A UCEC-US 17 60813880 60813880 single base substitution G T upstream_gene_variant UCEC-US 17 60813930 60813930 single base substitution G A synonymous_variant T301T 903C>T UCEC-US 17 60813930 60813930 single base substitution G A synonymous_variant T432T 1296C>T UCEC-US 17 60813930 60813930 single base substitution G A synonymous_variant T433T 1299C>T UCEC-US 17 60813930 60813930 single base substitution G A synonymous_variant T471T 1413C>T UCEC-US 17 60813930 60813930 single base substitution G A upstream_gene_variant UCEC-US 17 60814612 60814612 single base substitution G A missense_variant S205L 614C>T UCEC-US 17 60814612 60814612 single base substitution G A missense_variant S206L 617C>T UCEC-US 17 60814612 60814612 single base substitution G A missense_variant S244L 731C>T UCEC-US 17 60814612 60814612 single base substitution G A missense_variant S74L 221C>T UCEC-US 17 60814612 60814612 single base substitution G A upstream_gene_variant UCEC-US 17 60814634 60814634 single base substitution C A stop_gained E198* 592G>T UCEC-US 17 60814634 60814634 single base substitution C A stop_gained E199* 595G>T UCEC-US 17 60814634 60814634 single base substitution C A stop_gained E237* 709G>T UCEC-US 17 60814634 60814634 single base substitution C A stop_gained E67* 199G>T UCEC-US 17 60814634 60814634 single base substitution C A upstream_gene_variant UCEC-US 17 60821740 60821740 single base substitution C T missense_variant A177T 529G>A UCEC-US 17 60821740 60821740 single base substitution C T missense_variant A178T 532G>A UCEC-US 17 60821740 60821740 single base substitution C T missense_variant A216T 646G>A UCEC-US 17 60821740 60821740 single base substitution C T missense_variant A46T 136G>A UCEC-US 17 60821759 60821759 single base substitution C A missense_variant K170N 510G>T UCEC-US 17 60821759 60821759 single base substitution C A missense_variant K171N 513G>T UCEC-US 17 60821759 60821759 single base substitution C A missense_variant K209N 627G>T UCEC-US 17 60821759 60821759 single base substitution C A missense_variant K39N 117G>T UCEC-US 17 60865954 60865954 single base substitution G T exon_variant UCEC-US 17 60865954 60865954 single base substitution G T missense_variant L33M 97C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A056-01 COSM982503 c.513G>T p.K171N Substitution - Missense 17:62744398-62744398 - HCC063T COSM5812602 c.1318T>A p.W440R Substitution - Missense 17:62736550-62736550 - T35 COSM5342988 c.1881A>C p.E627D Substitution - Missense 17:62735987-62735987 - 19M COSM5236201 c.1507G>A p.G503R Substitution - Missense 17:62736361-62736361 - TCGA-EE-A29V-06 COSM3520565 c.2377G>A p.E793K Substitution - Missense 17:62701753-62701753 - TCGA-B5-A11O-01 COSM982504 c.131A>T p.E44V Substitution - Missense 17:62788559-62788559 - BRC50 COSM5028346 c.1478C>A p.S493* Substitution - Nonsense 17:62736390-62736390 - PT35 COSM5913909 c.370G>A p.E124K Substitution - Missense 17:62759847-62759847 - TCGA-39-5031-01 COSM706527 c.220G>A p.E74K Substitution - Missense 17:62759997-62759997 - TCGA-EE-A2A1-06 COSM3520574 c.1459G>A p.V487I Substitution - Missense 17:62736409-62736409 - 587376 COSM192868 c.1349C>A p.S450Y Substitution - Missense 17:62736519-62736519 - CSB17 COSM5028347 c.702C>A p.A234A Substitution - coding silent 17:62737166-62737166 - TCGA-ER-A194-01 COSM3520579 c.1024C>T p.H342Y Substitution - Missense 17:62736844-62736844 - TCGA-66-2794-01 COSM706526 c.141C>G p.R47R Substitution - coding silent 17:62788549-62788549 - TCGA-AP-A051-01 COSM982498 c.1299C>T p.T433T Substitution - coding silent 17:62736569-62736569 - 8047838 COSM3388075 c.1896G>C p.K632N Substitution - Missense 17:62735972-62735972 - TCGA-FW-A3R5-06 COSM2794507 c.722G>A p.G241E Substitution - Missense 17:62737146-62737146 - B65-Tumor COSM1750217 c.2333C>T p.S778L Substitution - Missense 17:62705577-62705577 - ESO-0459 COSM1243791 c.2281T>G p.F761V Substitution - Missense 17:62711278-62711278 - PASLZM COSM5006201 c.730A>G p.S244G Substitution - Missense 17:62737138-62737138 - YULAN COSM1710608 c.1749G>A p.M583I Substitution - Missense 17:62736119-62736119 - TCGA-AP-A056-01 COSM982488 c.2421C>T p.V807V Substitution - coding silent 17:62701709-62701709 - 2492723 COSM5722665 c.1670C>T p.P557L Substitution - Missense 17:62736198-62736198 - SNUH_G26_S1 COSM3755742 c.956T>C p.F319S Substitution - Missense 17:62736912-62736912 - TCGA-24-1849-01 COSM1324920 c.318G>A p.Q106Q Substitution - coding silent 17:62759899-62759899 - LUAD-S01478 COSM399756 c.717C>G p.F239L Substitution - Missense 17:62737151-62737151 - TCGA-EE-A29L-06 COSM2794507 c.722G>A p.G241E Substitution - Missense 17:62737146-62737146 - TCGA-14-0789-01 COSM3403086 c.139C>T p.R47C Substitution - Missense 17:62788551-62788551 - 105T COSM1237833 c.332C>A p.T111N Substitution - Missense 17:62759885-62759885 - TCGA-DA-A3F3-06 COSM1710606 c.1960G>A p.E654K Substitution - Missense 17:62725082-62725082 - YUPROST COSM1710609 c.1627G>A p.E543K Substitution - Missense 17:62736241-62736241 - ESCC-212T COSM3937496 c.181C>T p.R61W Substitution - Missense 17:62788509-62788509 - 049T COSM1729860 c.865G>A p.D289N Substitution - Missense 17:62737003-62737003 - TCGA-BR-8372-01 COSM4068509 c.335T>C p.M112T Substitution - Missense 17:62759882-62759882 - ACINAR29 COSM1734985 c.2170G>A p.D724N Substitution - Missense 17:62722532-62722532 - TCGA-F5-6814-01 COSM3421770 c.753C>A p.F251L Substitution - Missense 17:62737115-62737115 - C089 COSM5542530 c.1561C>T p.P521S Substitution - Missense 17:62736307-62736307 - HCC2T COSM1610590 c.1536A>G p.P512P Substitution - coding silent 17:62736332-62736332 - PD7202a COSM5772310 c.277G>A p.D93N Substitution - Missense 17:62759940-62759940 - TCGA-FW-A3R5-06 COSM3890121 c.1058C>T p.S353L Substitution - Missense 17:62736810-62736810 - 2492722 COSM5722665 c.1670C>T p.P557L Substitution - Missense 17:62736198-62736198 - TCGA-AF-4110-01 COSM1563710 c.507T>A p.P169P Substitution - coding silent 17:62744404-62744404 - TCGA-AZ-4315-01 COSM1385102 c.815G>A p.R272Q Substitution - Missense 17:62737053-62737053 - PD4958a COSM5597063 c.1141G>A p.D381N Substitution - Missense 17:62736727-62736727 - TCGA-D3-A5GO-06 COSM3520571 c.1997G>A p.G666E Substitution - Missense 17:62725045-62725045 - TCGA-AZ-4315-01 COSM1385097 c.1382C>A p.S461Y Substitution - Missense 17:62736486-62736486 - K-562 COSM1684519 c.1121_1129delCCCAAGACC p.Q375_P377delQDP Deletion - In frame 17:62736739-62736747 - 37 COSM5733628 c.836T>A p.I279N Substitution - Missense 17:62737032-62737032 - 12-P412 COSM4579956 c.1145G>A p.R382K Substitution - Missense 17:62736723-62736723 - TCGA-A7-A0DA-01 COSM437093 c.618G>T p.S206S Substitution - coding silent 17:62737250-62737250 - CHC892T COSM4795418 c.1778G>A p.G593E Substitution - Missense 17:62736090-62736090 - TCGA-EE-A2MJ-06 COSM3520567 c.2321G>A p.R774K Substitution - Missense 17:62711238-62711238 - TCGA-FW-A3R5-06 COSM3890122 c.947G>A p.R316K Substitution - Missense 17:62736921-62736921 - pfg143T COSM4756235 c.18G>T p.R6S Substitution - Missense 17:62801718-62801718 - TCGA-EE-A185-06 COSM3520580 c.962G>T p.G321V Substitution - Missense 17:62736906-62736906 - PD23566a COSM5793726 c.851G>A p.S284N Substitution - Missense 17:62737017-62737017 - SNU-175 COSM2794457 c.2415C>T p.S805S Substitution - coding silent 17:62701715-62701715 - SNUH_G26_S1 COSM3755741 c.1602C>T p.N534N Substitution - coding silent 17:62736266-62736266 - Au10 COSM5598483 c.2102C>T p.S701L Substitution - Missense 17:62724940-62724940 - PCSI_0128_Pa_P COSM3378436 c.416G>C p.R139T Substitution - Missense 17:62744495-62744495 - YUMOBER COSM5386985 c.1941C>T p.L647L Substitution - coding silent 17:62725101-62725101 - YUKLAB COSM1710604 c.2082G>A p.W694* Substitution - Nonsense 17:62724960-62724960 - 2492722 COSM5722666 c.1097G>A p.R366Q Substitution - Missense 17:62736771-62736771 - PD7202a COSM5772335 c.2062C>T p.Q688* Substitution - Nonsense 17:62724980-62724980 - sysucc-311T COSM5464141 c.1809C>T p.F603F Substitution - coding silent 17:62736059-62736059 - TCGA-D1-A16Y-01 COSM982502 c.532G>A p.A178T Substitution - Missense 17:62744379-62744379 - TCGA-D3-A51T-06 COSM1710608 c.1749G>A p.M583I Substitution - Missense 17:62736119-62736119 - 49M COSM1385099 c.1188G>A p.A396A Substitution - coding silent 17:62736680-62736680 - TCGA-23-2645-01 COSM1324921 c.509C>A p.A170E Substitution - Missense 17:62744402-62744402 - 16246 COSM5614486 c.218G>T p.S73I Substitution - Missense 17:62759999-62759999 - DN110E8 COSM5772310 c.277G>A p.D93N Substitution - Missense 17:62759940-62759940 - ATL062 COSM5706488 c.2285C>T p.A762V Substitution - Missense 17:62711274-62711274 - 2492723 COSM5722666 c.1097G>A p.R366Q Substitution - Missense 17:62736771-62736771 - DLBCL-PatientD COSM221274 c.2122G>A p.V708M Substitution - Missense 17:62722580-62722580 - NB07C COSM1236371 c.577C>A p.L193M Substitution - Missense 17:62737291-62737291 - Au1 COSM5597063 c.1141G>A p.D381N Substitution - Missense 17:62736727-62736727 - RKO COSM2794479 c.1609C>T p.H537Y Substitution - Missense 17:62736259-62736259 - YUMOBER COSM5386986 c.931C>T p.P311S Substitution - Missense 17:62736937-62736937 - 2217533 COSM4421717 c.924C>A p.P308P Substitution - coding silent 17:62736944-62736944 - TCGA-GN-A26C-01 COSM3520572 c.1879G>A p.E627K Substitution - Missense 17:62735989-62735989 - TCGA-F5-6814-01 COSM3421771 c.680C>T p.S227F Substitution - Missense 17:62737188-62737188 - S02243 COSM5677726 c.634G>A p.E212K Substitution - Missense 17:62737234-62737234 - TCGA-AA-A010-01 COSM282670 c.91-6C>A p.? Unknown 17:62788605-62788605 - TCGA-DJ-A2Q3-01 COSM3370842 c.219T>G p.S73R Substitution - Missense 17:62759998-62759998 - CHC892T COSM4795418 c.1778G>A p.G593E Substitution - Missense 17:62736090-62736090 - ccRCC-96 COSM1660112 c.1540T>C p.S514P Substitution - Missense 17:62736328-62736328 - TCGA-B7-5818-01 COSM4068507 c.958G>T p.G320W Substitution - Missense 17:62736910-62736910 - C086 COSM5525923 c.2224G>A p.E742K Substitution - Missense 17:62711335-62711335 - TCGA-43-3920-01 COSM706533 c.2295G>C p.M765I Substitution - Missense 17:62711264-62711264 - CSCC-44-T COSM2794507 c.722G>A p.G241E Substitution - Missense 17:62737146-62737146 - CSCC-40-T COSM4551419 c.528G>A p.R176R Substitution - coding silent 17:62744383-62744383 - TCGA-EE-A29E-06 COSM3520584 c.708C>T p.S236S Substitution - coding silent 17:62737160-62737160 - TCGA-BH-A18G-01 COSM5218223 c.2366delA p.N789fs*>20 Deletion - Frameshift 17:62705544-62705544 - TCGA-EE-A3J5-06 COSM3520566 c.2376G>A p.S792S Substitution - coding silent 17:62701754-62701754 - T3535 COSM4700680 c.1959G>T p.E653D Substitution - Missense 17:62725083-62725083 - HCC10T COSM131215 c.254T>A p.I85N Substitution - Missense 17:62759963-62759963 - TCGA-BR-4184-01 COSM4068511 c.66G>A p.Q22Q Substitution - coding silent 17:62801670-62801670 - ESO-130 COSM1243792 c.793A>C p.R265R Substitution - coding silent 17:62737075-62737075 - TCGA-EE-A29M-06 COSM3520581 c.859G>A p.E287K Substitution - Missense 17:62737009-62737009 - TCGA-BP-5184-01 COSM473171 c.329G>T p.S110I Substitution - Missense 17:62759888-62759888 - TCGA-BR-A4J8-01 COSM4068506 c.1231C>A p.Q411K Substitution - Missense 17:62736637-62736637 - ESCC_BICR_033T COSM5439711 c.1783C>G p.L595V Substitution - Missense 17:62736085-62736085 - TCGA-D9-A1JX-06 COSM3520573 c.1719G>A p.V573V Substitution - coding silent 17:62736149-62736149 - TCGA-BH-A0DZ-01 COSM437092 c.1963G>A p.E655K Substitution - Missense 17:62725079-62725079 - HCC2 COSM1610590 c.1536A>G p.P512P Substitution - coding silent 17:62736332-62736332 - SC_9061 COSM5560831 c.639C>A p.N213K Substitution - Missense 17:62737229-62737229 - PD4120a COSM162385 c.1987C>G p.Q663E Substitution - Missense 17:62725055-62725055 - KPOPBR-03-T COSM5965694 c.1234G>A p.E412K Substitution - Missense 17:62736634-62736634 - 23T COSM3712411 c.1974G>T p.L658F Substitution - Missense 17:62725068-62725068 - TCGA-CG-4465-01 COSM4068510 c.309A>G p.S103S Substitution - coding silent 17:62759908-62759908 - YUOMEGA COSM5386987 c.677C>T p.P226L Substitution - Missense 17:62737191-62737191 - pfg122T COSM4756234 c.653C>T p.A218V Substitution - Missense 17:62737215-62737215 - SNUH_G16_S1 COSM3755741 c.1602C>T p.N534N Substitution - coding silent 17:62736266-62736266 - PT52 COSM5940706 c.1165G>A p.D389N Substitution - Missense 17:62736703-62736703 - TCGA-GN-A269-01 COSM3520578 c.1146G>A p.R382R Substitution - coding silent 17:62736722-62736722 - CHC1211T COSM4954930 c.1531C>G p.Q511E Substitution - Missense 17:62736337-62736337 - YUOTHO COSM5386988 c.203C>T p.S68F Substitution - Missense 17:62788487-62788487 - PT55 COSM5942727 c.1147G>A p.E383K Substitution - Missense 17:62736721-62736721 - DN110E8 COSM5772335 c.2062C>T p.Q688* Substitution - Nonsense 17:62724980-62724980 - LUAD-LIP77 COSM342235 c.27G>A p.Q9Q Substitution - coding silent 17:62801709-62801709 - TCGA-BS-A0UV-01 COSM982495 c.1684C>A p.L562I Substitution - Missense 17:62736184-62736184 - TCGA-A7-A3IZ-01 COSM3820166 c.492G>A p.Q164Q Substitution - coding silent 17:62744419-62744419 - TCGA-AP-A0LM-01 COSM982491 c.2151C>T p.G717G Substitution - coding silent 17:62722551-62722551 - TCGA-BH-A0DZ-01 COSM437094 c.429G>C p.L143L Substitution - coding silent 17:62744482-62744482 - T3724 COSM2794509 c.660_661insA p.G221fs*10 Insertion - Frameshift 17:62737207-62737208 - TCGA-BS-A0UV-01 COSM982497 c.1612G>A p.E538K Substitution - Missense 17:62736256-62736256 - TCGA-BR-6452-01 COSM4068505 c.1956C>T p.S652S Substitution - coding silent 17:62725086-62725086 - HT115 COSM2794525 c.141C>T p.R47R Substitution - coding silent 17:62788549-62788549 - YUZINO COSM1710605 c.2005C>T p.P669S Substitution - Missense 17:62725037-62725037 - 587222 COSM1214558 c.1978C>T p.R660C Substitution - Missense 17:62725064-62725064 - T3724 COSM4700681 c.1867G>T p.G623C Substitution - Missense 17:62736001-62736001 - LIM1215 COSM2794463 c.2078delA p.K693fs*3 Deletion - Frameshift 17:62724964-62724964 - HCC119T COSM1610591 c.1492A>T p.S498C Substitution - Missense 17:62736376-62736376 - TCGA-AP-A0LM-01 COSM982500 c.617C>T p.S206L Substitution - Missense 17:62737251-62737251 - TCGA-EE-A29D-06 COSM3520585 c.523C>T p.P175S Substitution - Missense 17:62744388-62744388 - Pat_24_B COSM5853180 c.1499A>G p.D500G Substitution - Missense 17:62736369-62736369 - pfg068T COSM4756233 c.1778G>T p.G593V Substitution - Missense 17:62736090-62736090 - LS174T COSM2794461 c.2198A>C p.K733T Substitution - Missense 17:62722504-62722504 - 489 COSM706529 c.514G>T p.V172L Substitution - Missense 17:62744397-62744397 - 2492720 COSM5722665 c.1670C>T p.P557L Substitution - Missense 17:62736198-62736198 - 2492721 COSM5722665 c.1670C>T p.P557L Substitution - Missense 17:62736198-62736198 - Case5 COSM1579392 c.1731C>A p.S577R Substitution - Missense 17:62736137-62736137 - OSCC-GB_00230111 COSM3712411 c.1974G>T p.L658F Substitution - Missense 17:62725068-62725068 - TCGA-Q1-A73O-01 COSM706532 c.1872C>T p.F624F Substitution - coding silent 17:62735996-62735996 - ESCC_51 COSM5631005 c.1979G>T p.R660L Substitution - Missense 17:62725063-62725063 - TCGA-AA-3492-01 COSM1385103 c.755C>T p.S252L Substitution - Missense 17:62737113-62737113 - TCGA-JW-A5VL-01 COSM4847097 c.2136G>A p.E712E Substitution - coding silent 17:62722566-62722566 - KPOPBR-03-T COSM5965294 c.151T>G p.W51G Substitution - Missense 17:62788539-62788539 - ccRCC-2 COSM1665583 c.413delA p.K138fs*6 Deletion - Frameshift 17:62744498-62744498 - TCGA-EE-A20C-06 COSM3520588 c.379C>T p.P127S Substitution - Missense 17:62759838-62759838 - T3091 COSM4700682 c.1356C>T p.D452D Substitution - coding silent 17:62736512-62736512 - CSCC-19-T COSM4524273 c.1262G>A p.W421* Substitution - Nonsense 17:62736606-62736606 - Pat_45_B COSM5853183 c.289C>T p.P97S Substitution - Missense 17:62759928-62759928 - TCGA-AZ-6601-01 COSM1385101 c.1106C>T p.A369V Substitution - Missense 17:62736762-62736762 - RK164_C01 COSM3701255 c.1179T>C p.S393S Substitution - coding silent 17:62736689-62736689 - TCGA-46-3765-01 COSM706531 c.1583A>G p.H528R Substitution - Missense 17:62736285-62736285 - TCGA-GV-A3JX-01 COSM1303171 c.1462G>T p.D488Y Substitution - Missense 17:62736406-62736406 - TCGA-G4-6302-01 COSM3691727 c.1115G>T p.R372M Substitution - Missense 17:62736753-62736753 - TCGA-D3-A2JC-06 COSM3520569 c.2150G>A p.G717D Substitution - Missense 17:62722552-62722552 - Pat_76_A COSM5853181 c.1080G>A p.M360I Substitution - Missense 17:62736788-62736788 - TCGA-BR-8078-01 COSM1385096 c.1576G>A p.E526K Substitution - Missense 17:62736292-62736292 - CSCC-41-T COSM2794507 c.722G>A p.G241E Substitution - Missense 17:62737146-62737146 - TCGA-D3-A3MR-06 COSM3520568 c.2279G>A p.R760K Substitution - Missense 17:62711280-62711280 - CSCC-27-T COSM4498641 c.524C>T p.P175L Substitution - Missense 17:62744387-62744387 - TCGA-AX-A0J0-01 COSM982489 c.2365A>C p.N789H Substitution - Missense 17:62705545-62705545 - TCGA-GN-A26A-06 COSM3520587 c.432G>A p.R144R Substitution - coding silent 17:62744479-62744479 - SNUH_G10_S1 COSM3755741 c.1602C>T p.N534N Substitution - coding silent 17:62736266-62736266 - ESCC_68 COSM5633894 c.1593C>T p.F531F Substitution - coding silent 17:62736275-62736275 - TCGA-GN-A266-06 COSM3520582 c.723A>T p.G241G Substitution - coding silent 17:62737145-62737145 - TCGA-EE-A29M-06 COSM982497 c.1612G>A p.E538K Substitution - Missense 17:62736256-62736256 - TCGA-AM-5820-01 COSM3755742 c.956T>C p.F319S Substitution - Missense 17:62736912-62736912 - T3011 COSM4700683 c.455C>T p.S152L Substitution - Missense 17:62744456-62744456 - 1_PRE-TREATMENT COSM1719462 c.2316G>A p.V772V Substitution - coding silent 17:62711243-62711243 - TCGA-CZ-5468-01 COSM473169 c.788G>C p.G263A Substitution - Missense 17:62737080-62737080 - HCC2998 COSM1385098 c.1205C>T p.S402L Substitution - Missense 17:62736663-62736663 - TCGA-D9-A4Z3-01 COSM3520577 c.1215C>T p.T405T Substitution - coding silent 17:62736653-62736653 - SS6003324 COSM3665240 c.1710G>T p.L570F Substitution - Missense 17:62736158-62736158 - TCGA-EE-A29P-06 COSM3520570 c.2000G>T p.G667V Substitution - Missense 17:62725042-62725042 - YUROG COSM1710608 c.1749G>A p.M583I Substitution - Missense 17:62736119-62736119 - TCGA-AA-3510-01 COSM1385098 c.1205C>T p.S402L Substitution - Missense 17:62736663-62736663 - HCC018T COSM5820083 c.1977T>C p.C659C Substitution - coding silent 17:62725065-62725065 - TCGA-B2-5633-01 COSM473170 c.484A>G p.S162G Substitution - Missense 17:62744427-62744427 - TCGA-D1-A103-01 COSM982505 c.97C>A p.L33M Substitution - Missense 17:62788593-62788593 - TCGA-ER-A19N-06 COSM3520578 c.1146G>A p.R382R Substitution - coding silent 17:62736722-62736722 - CHC1211T COSM4954930 c.1531C>G p.Q511E Substitution - Missense 17:62736337-62736337 - TCGA-AX-A05Z-01 COSM982492 c.1842T>C p.D614D Substitution - coding silent 17:62736026-62736026 - HCC018T COSM5820127 c.1856T>A p.M619K Substitution - Missense 17:62736012-62736012 - TCGA-CA-6717-01 COSM1385096 c.1576G>A p.E526K Substitution - Missense 17:62736292-62736292 - TCGA-39-5024-01 COSM706528 c.334A>G p.M112V Substitution - Missense 17:62759883-62759883 - TCGA-E9-A227-01 COSM1479837 c.119G>A p.R40K Substitution - Missense 17:62788571-62788571 - PCSI_0476_Pa_P_526 COSM5031315 c.488G>T p.R163I Substitution - Missense 17:62744423-62744423 - TCGA-EE-A2MS-06 COSM3520583 c.721G>A p.G241R Substitution - Missense 17:62737147-62737147 - TCGA-D3-A51J-06 COSM3520575 c.1457C>T p.P486L Substitution - Missense 17:62736411-62736411 - TCGA-AA-3664-01 COSM265719 c.290delC p.P97fs*16 Deletion - Frameshift 17:62759927-62759927 - ESCC_167 COSM2794469 c.2009G>C p.S670T Substitution - Missense 17:62725033-62725033 - TCGA-DK-A2I4-01 COSM3795919 c.1028C>G p.S343C Substitution - Missense 17:62736840-62736840 - TCGA-EE-A2M5-06 COSM1385098 c.1205C>T p.S402L Substitution - Missense 17:62736663-62736663 - TCGA-AA-A010-01 COSM282669 c.1424C>A p.S475* Substitution - Nonsense 17:62736444-62736444 - TCGA-AA-3510-01 COSM1385105 c.121G>T p.D41Y Substitution - Missense 17:62788569-62788569 - LS180 COSM2794461 c.2198A>C p.K733T Substitution - Missense 17:62722504-62722504 - YUFARCI COSM1710606 c.1960G>A p.E654K Substitution - Missense 17:62725082-62725082 - TCGA-GF-A6C9-06 COSM4901831 c.1508G>A p.G503E Substitution - Missense 17:62736360-62736360 - 1_RESISTANT COSM1719462 c.2316G>A p.V772V Substitution - coding silent 17:62711243-62711243 - TCGA-BS-A0UF-01 COSM192868 c.1349C>A p.S450Y Substitution - Missense 17:62736519-62736519 - SNUH_G16_S1 COSM3755742 c.956T>C p.F319S Substitution - Missense 17:62736912-62736912 - SNUH_G10_S1 COSM3755742 c.956T>C p.F319S Substitution - Missense 17:62736912-62736912 - TCGA-HT-7690-01 COSM3970220 c.87T>C p.Y29Y Substitution - coding silent 17:62801649-62801649 - LUAD-NYU575 COSM375008 c.1834C>T p.Q612* Substitution - Nonsense 17:62736034-62736034 - YUTEPA COSM1710607 c.1789G>A p.E597K Substitution - Missense 17:62736079-62736079 - B65 COSM1750217 c.2333C>T p.S778L Substitution - Missense 17:62705577-62705577 - TCGA-D3-A51R-06 COSM3520586 c.469G>A p.A157T Substitution - Missense 17:62744442-62744442 - TCGA-AM-5820-01 COSM3755741 c.1602C>T p.N534N Substitution - coding silent 17:62736266-62736266 - TCGA-CZ-5468-01 COSM473168 c.789G>T p.G263G Substitution - coding silent 17:62737079-62737079 - 587222 COSM1214559 c.1914G>T p.E638D Substitution - Missense 17:62735954-62735954 - TCGA-AX-A0J0-01 COSM982493 c.1809C>A p.F603L Substitution - Missense 17:62736059-62736059 - TCGA-GN-A266-06 COSM3520589 c.36C>T p.F12F Substitution - coding silent 17:62801700-62801700 - TCGA-B5-A0JY-01 COSM982501 c.595G>T p.E199* Substitution - Nonsense 17:62737273-62737273 - PT51 COSM5938395 c.2341T>C p.Y781H Substitution - Missense 17:62705569-62705569 - TCGA-D3-A51E-06 COSM3520576 c.1241G>C p.G414A Substitution - Missense 17:62736627-62736627 - TCGA-66-2795-01 COSM706529 c.514G>T p.V172L Substitution - Missense 17:62744397-62744397 - TCGA-A5-A0GB-01 COSM982499 c.1016G>A p.C339Y Substitution - Missense 17:62736852-62736852 - TCGA-BP-4993-01 COSM473166 c.2091G>T p.V697V Substitution - coding silent 17:62724951-62724951 - TCGA-FW-A3R5-06 COSM3890123 c.879G>A p.E293E Substitution - coding silent 17:62736989-62736989 - ESCC_125 COSM221274 c.2122G>A p.V708M Substitution - Missense 17:62722580-62722580 - LUAD-F00162 COSM366244 c.2032G>T p.G678C Substitution - Missense 17:62725010-62725010 - TCGA-46-3769-01 COSM706530 c.864C>A p.S288R Substitution - Missense 17:62737004-62737004 - TCGA-QB-A6FS-06 COSM3890120 c.1684C>T p.L562F Substitution - Missense 17:62736184-62736184 - tumor_4196670 COSM5947252 c.1929G>A p.L643L Substitution - coding silent 17:62735939-62735939 - TCGA-32-1977-01 COSM3403087 c.24G>T p.R8S Substitution - Missense 17:62801712-62801712 - NCI-H835 COSM2794518 c.383C>A p.A128E Substitution - Missense 17:62744528-62744528 - TCGA-EE-A181-06 COSM3890119 c.1840G>A p.D614N Substitution - Missense 17:62736028-62736028 - TCGA-C5-A1BQ-01 COSM4841769 c.768C>G p.L256L Substitution - coding silent 17:62737100-62737100 - SS6003323 COSM3665240 c.1710G>T p.L570F Substitution - Missense 17:62736158-62736158 - Pat_24_B COSM5853182 c.496C>T p.Q166* Substitution - Nonsense 17:62744415-62744415 - 2492720 COSM5722666 c.1097G>A p.R366Q Substitution - Missense 17:62736771-62736771 - TCGA-AP-A052-01 COSM982496 c.1621G>T p.V541F Substitution - Missense 17:62736247-62736247 - TCGA-CG-5721-01 COSM4068508 c.567T>C p.C189C Substitution - coding silent 17:62737301-62737301 - 2492721 COSM5722666 c.1097G>A p.R366Q Substitution - Missense 17:62736771-62736771 - TCGA-A6-5657-01 COSM1385099 c.1188G>A p.A396A Substitution - coding silent 17:62736680-62736680 - HCC119 COSM1610591 c.1492A>T p.S498C Substitution - Missense 17:62736376-62736376 - TCGA-BS-A0UV-01 COSM982490 c.2190C>A p.F730L Substitution - Missense 17:62722512-62722512 - Pat_76_B COSM5853181 c.1080G>A p.M360I Substitution - Missense 17:62736788-62736788 - T84 COSM2794501 c.922C>T p.P308S Substitution - Missense 17:62736946-62736946 - PCSI_0358_Pa_P_526 COSM2794499 c.968C>T p.S323L Substitution - Missense 17:62736900-62736900 - TCGA-F1-6177-01 COSM4068512 c.12C>T p.D4D Substitution - coding silent 17:62801724-62801724 - TCGA-22-5473-01 COSM706532 c.1872C>T p.F624F Substitution - coding silent 17:62735996-62735996 - PT49 COSM4524273 c.1262G>A p.W421* Substitution - Nonsense 17:62736606-62736606 - TCGA-CZ-5458-01 COSM473167 c.1882A>T p.K628* Substitution - Nonsense 17:62735986-62735986 - TCGA-D1-A103-01 COSM982494 c.1768C>T p.H590Y Substitution - Missense 17:62736100-62736100 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.665662;Hs.665663 17q23.2 613337

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F761V c.2281T>G 17 60788639 ESCA A C Missense p.S350R c.1050T>G 17 60814179 LUAD A C Missense p.S73R c.219T>G 17 60837359 THCA A G IntronicSNV . c.2329-322T>C 17 60783264 CLL A G Missense p.C679R c.2035T>C 17 60802368 COREAD A G Synonymous p.T211T c.633T>C 17 60814596 MM A G Synonymous p.Y29Y c.87T>C 17 60879010 LGG C A IntronicSNV . c.210+11433G>T 17 60854408 CLL C A IntronicSNV . c.90+3002G>T 17 60876005 CLL C A Missense p.D488Y c.1462G>T 17 60813767 BLCA C A Missense p.G320W c.958G>T 17 60814271 STAD C A Missense p.G321V c.962G>T 17 60814267 CM C A Missense p.G667V c.2000G>T 17 60802403 CM C A Missense p.R8S c.24G>T 17 60879073 GBM C A Missense p.S73I c.218G>T 17 60837360 NSCLC C A Missense p.V172L c.514G>T 17 60821758 HNSC C A Missense p.V172L c.514G>T 17 60821758 LUSC C A Synonymous p.G263G c.789G>T 17 60814440 RCCC C A Synonymous p.S206S c.618G>T 17 60814611 BRCA C A Synonymous p.V697V c.2091G>T 17 60802312 RCCC - CCAACA IntronicInsertion . c.91-4875_91-4874insTGTTGG 17 60870834 CLL C G Missense p.G263A c.788G>C 17 60814441 RCCC C G Missense p.M765I c.2295G>C 17 60788625 LUSC C G SpliceAcceptorSNV . c.383-1G>C 17 60821890 LUAD C G Synonymous p.V680V c.2040G>C 17 60802363 CM C T Missense p.A157T c.469G>A 17 60821803 CM C T Missense p.A178T c.532G>A 17 60821740 UCEC C T Missense p.D614N c.1840G>A 17 60813389 CM C T Missense p.E287K c.859G>A 17 60814370 CM C T Missense p.E538K c.1612G>A 17 60813617 CM C T Missense p.E627K c.1879G>A 17 60813350 CM C T Missense p.E654K c.1960G>A 17 60802443 CM C T Missense p.E74K c.220G>A 17 60837358 LUSC C T Missense p.E793K c.2377G>A 17 60779114 CM C T Missense p.G241E c.722G>A 17 60814507 CM C T Missense p.G241R c.721G>A 17 60814508 CM C T Missense p.G503R c.1507G>A 17 60813722 LUAD C T Missense p.G717D c.2150G>A 17 60799913 CM C T Missense p.R40K c.119G>A 17 60865932 BRCA C T Missense p.R760K c.2279G>A 17 60788641 CM C T Missense p.R774K c.2321G>A 17 60788599 CM C T Missense p.V487I c.1459G>A 17 60813770 CM C T Synonymous p.L691L c.2073G>A 17 60802330 CM C T Synonymous p.R144R c.432G>A 17 60821840 CM C T Synonymous p.R382R c.1146G>A 17 60814083 CM C T Synonymous p.S152S c.456G>A 17 60821816 LUAD C T Synonymous p.S792S c.2376G>A 17 60779115 CM C T Synonymous p.V120V c.360G>A 17 60837218 CM C T Synonymous p.V573V c.1719G>A 17 60813510 CM G A 3-UTRSNV . c.2424+29C>T 17 60779038 ESCA G A Missense p.H342Y c.1024C>T 17 60814205 CM G A Missense p.P127S c.379C>T 17 60837199 CM G A Missense p.P258S c.772C>T 17 60814457 CM G A Missense p.R306C c.916C>T 17 60814313 COREAD G A Missense p.S402L c.1205C>T 17 60814024 CM G A Synonymous p.D4D c.12C>T 17 60879085 STAD G A Synonymous p.F531F c.1593C>T 17 60813636 CM G A Synonymous p.F624F c.1872C>T 17 60813357 LUSC G A Synonymous p.S68S c.204C>T 17 60865847 CM G C Missense p.Q663E c.1987C>G 17 60802416 BRCA G C Missense p.S278C c.833C>G 17 60814396 HNSC G C Missense p.S343C c.1028C>G 17 60814201 BLCA G C Synonymous p.R47R c.141C>G 17 60865910 LUSC G - Frameshift p.P97Qfs*16 c.290delC 17 60837288 COREAD GG AA Missense p.S374F c.1121_1122delinsTT 17 60814107 CM G T IntronicSNV . c.2371+21C>A 17 60782879 CM G T Missense p.L193M c.577C>A 17 60814652 NB G T Missense p.P42Q c.125C>A 17 60865926 LUAD G T Missense p.P669Q c.2006C>A 17 60802397 LUAD G T Missense p.P669T c.2005C>A 17 60802398 LUAD G T Missense p.P782Q c.2345C>A 17 60782926 CM G T Missense p.S288R c.864C>A 17 60814365 LUSC G T Missense p.S368Y c.1103C>A 17 60814126 LUAD G T Nonsense p.S493* c.1478C>A 17 60813751 BRCA G T Synonymous p.A234A c.702C>A 17 60814527 BRCA T A Nonsense p.K628* c.1882A>T 17 60813347 RCCC T C Missense p.E337G c.1010A>G 17 60814219 LUAD T C Missense p.H528R c.1583A>G 17 60813646 LUSC T C Missense p.M112V c.334A>G 17 60837244 LUSC T C Missense p.Y29C c.86A>G 17 60879011 COREAD T G Synonymous p.R265R c.793A>C 17 60814436 ESCA - TGTTGT IntronicInsertion . c.382+64_382+65insCAACAA 17 60837132 ESCA