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 8 67049359 67049359 + Silent SNP C C T TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr8:67049359C>T c.537C>T c.(535-537)ctC>ctT p.L179L BLCA 8 67040613 67040613 + Silent SNP T T C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr8:67040613T>C c.243T>C c.(241-243)tgT>tgC p.C81C BLCA 8 67047319 67047319 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 g.chr8:67047319C>T c.436C>T c.(436-438)Ctg>Ttg p.L146L BLCA 8 67047346 67047346 + Missense_Mutation SNP G G T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr8:67047346G>T c.463G>T c.(463-465)Gac>Tac p.D155Y BLCA 8 67047378 67047378 + Missense_Mutation SNP C C A TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr8:67047378C>A c.495C>A c.(493-495)ttC>ttA p.F165L BLCA 8 67049350 67049350 + Silent SNP C C T TCGA-XF-A9SZ-01A-11D-A391-08 TCGA-XF-A9SZ-10A-01D-A394-08 g.chr8:67049350C>T c.528C>T c.(526-528)atC>atT p.I176I BRCA 8 67039518 67039518 + Silent SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr8:67039518G>A c.15G>A c.(13-15)ctG>ctA p.L5L BRCA 8 67040682 67040682 + Silent SNP C C A TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 g.chr8:67040682C>A c.312C>A c.(310-312)atC>atA p.I104I BRCA 8 67049371 67049371 + Silent SNP C C T TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 g.chr8:67049371C>T c.549C>T c.(547-549)aaC>aaT p.N183N BRCA 8 67062075 67062075 + Nonsense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr8:67062075C>T c.799C>T c.(799-801)Cag>Tag p.Q267* BRCA 8 67062591 67062591 + Nonsense_Mutation SNP C C G TCGA-A2-A0D2-01A-21W-A050-09 TCGA-A2-A0D2-10A-01W-A055-09 g.chr8:67062591C>G c.875C>G c.(874-876)tCa>tGa p.S292* BRCA 8 67064633 67064633 + Missense_Mutation SNP A A C TCGA-AN-A0FV-01A-11W-A019-09 TCGA-AN-A0FV-10A-01W-A021-09 g.chr8:67064633A>C c.1007A>C c.(1006-1008)gAa>gCa p.E336A BRCA 8 67064728 67064728 + Nonsense_Mutation SNP G G T TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr8:67064728G>T c.1102G>T c.(1102-1104)Gga>Tga p.G368* BRCA 8 67066551 67066551 + Silent SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr8:67066551A>C c.1506A>C c.(1504-1506)gcA>gcC p.A502A CESC 8 67062588 67062588 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 g.chr8:67062588C>T c.872C>T c.(871-873)gCa>gTa p.A291V CESC 8 67064640 67064640 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 g.chr8:67064640C>T c.1014C>T c.(1012-1014)ggC>ggT p.G338G CHOL 8 67039583 67039583 + Missense_Mutation SNP C C T TCGA-W5-AA2T-01A-12D-A417-09 TCGA-W5-AA2T-10A-01D-A41A-09 g.chr8:67039583C>T c.80C>T c.(79-81)cCc>cTc p.P27L CHOL 8 67049405 67049405 + Missense_Mutation SNP G G T TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr8:67049405G>T c.583G>T c.(583-585)Gac>Tac p.D195Y COAD 8 67039509 67039509 + Missense_Mutation SNP C C A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr8:67039509C>A c.6C>A c.(4-6)agC>agA p.S2R COAD 8 67039529 67039529 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:67039529C>A c.26C>A c.(25-27)tCt>tAt p.S9Y COAD 8 67039672 67039672 + Splice_Site SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr8:67039672G>T c.e1+1 COAD 8 67040565 67040565 + Missense_Mutation SNP A A C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr8:67040565A>C c.195A>C c.(193-195)agA>agC p.R65S COAD 8 67040594 67040594 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:67040594G>A c.224G>A c.(223-225)cGa>cAa p.R75Q COAD 8 67040615 67040615 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:67040615G>T c.245G>T c.(244-246)aGa>aTa p.R82I COAD 8 67040677 67040677 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:67040677A>C c.307A>C c.(307-309)Aat>Cat p.N103H COAD 8 67047256 67047256 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr8:67047256G>A c.373G>A c.(373-375)Gag>Aag p.E125K COAD 8 67062024 67062024 + Missense_Mutation SNP A A G TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr8:67062024A>G c.748A>G c.(748-750)Aag>Gag p.K250E COAD 8 67062025 67062025 + Missense_Mutation SNP A A G TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr8:67062025A>G c.749A>G c.(748-750)aAg>aGg p.K250R COAD 8 67062060 67062060 + Missense_Mutation SNP G G C TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr8:67062060G>C c.784G>C c.(784-786)Gtt>Ctt p.V262L COAD 8 67064641 67064641 + Missense_Mutation SNP G G A TCGA-AA-3655-01A-02D-1719-10 TCGA-AA-3655-11A-01D-1719-10 g.chr8:67064641G>A c.1015G>A c.(1015-1017)Gga>Aga p.G339R COAD 8 67064760 67064760 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:67064760G>A c.1134G>A c.(1132-1134)gaG>gaA p.E378E COAD 8 67064825 67064825 + Missense_Mutation SNP C C A TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr8:67064825C>A c.1199C>A c.(1198-1200)cCa>cAa p.P400Q COAD 8 67066396 67066396 + Missense_Mutation SNP C C T TCGA-F4-6806-01A-11D-1835-10 TCGA-F4-6806-10A-01D-1835-10 g.chr8:67066396C>T c.1351C>T c.(1351-1353)Cgg>Tgg p.R451W COAD 8 67066397 67066397 + Missense_Mutation SNP G G A TCGA-AA-3875-01A-01W-0900-09 TCGA-AA-3875-10A-01W-0902-09 g.chr8:67066397G>A c.1352G>A c.(1351-1353)cGg>cAg p.R451Q COAD 8 67066426 67066426 + Missense_Mutation SNP C C A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr8:67066426C>A c.1381C>A c.(1381-1383)Cca>Aca p.P461T COAD 8 67066483 67066483 + Missense_Mutation SNP C C T TCGA-A6-2677-01A-01W-0831-10 TCGA-A6-2677-10A-01W-0831-10 g.chr8:67066483C>T c.1438C>T c.(1438-1440)Cgg>Tgg p.R480W COADREAD 8 67039509 67039509 + Missense_Mutation SNP C C A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr8:67039509C>A c.6C>A c.(4-6)agC>agA p.S2R COADREAD 8 67039529 67039529 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:67039529C>A c.26C>A c.(25-27)tCt>tAt p.S9Y COADREAD 8 67039672 67039672 + Splice_Site SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr8:67039672G>T c.e1+1 COADREAD 8 67040565 67040565 + Missense_Mutation SNP A A C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr8:67040565A>C c.195A>C c.(193-195)agA>agC p.R65S COADREAD 8 67040594 67040594 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:67040594G>A c.224G>A c.(223-225)cGa>cAa p.R75Q COADREAD 8 67040615 67040615 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:67040615G>T c.245G>T c.(244-246)aGa>aTa p.R82I COADREAD 8 67040677 67040677 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:67040677A>C c.307A>C c.(307-309)Aat>Cat p.N103H COADREAD 8 67047256 67047256 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr8:67047256G>A c.373G>A c.(373-375)Gag>Aag p.E125K COADREAD 8 67047301 67047301 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:67047301G>A c.418G>A c.(418-420)Gaa>Aaa p.E140K COADREAD 8 67062024 67062024 + Missense_Mutation SNP A A G TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr8:67062024A>G c.748A>G c.(748-750)Aag>Gag p.K250E COADREAD 8 67062025 67062025 + Missense_Mutation SNP A A G TCGA-CI-6620-01A-11D-1826-10 TCGA-CI-6620-10A-01D-1826-10 g.chr8:67062025A>G c.749A>G c.(748-750)aAg>aGg p.K250R COADREAD 8 67062025 67062025 + Missense_Mutation SNP A A G TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr8:67062025A>G c.749A>G c.(748-750)aAg>aGg p.K250R COADREAD 8 67062060 67062060 + Missense_Mutation SNP G G C TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr8:67062060G>C c.784G>C c.(784-786)Gtt>Ctt p.V262L COADREAD 8 67062668 67062668 + Nonsense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr8:67062668G>T c.952G>T c.(952-954)Gaa>Taa p.E318* COADREAD 8 67064641 67064641 + Missense_Mutation SNP G G A TCGA-AA-3655-01A-02D-1719-10 TCGA-AA-3655-11A-01D-1719-10 g.chr8:67064641G>A c.1015G>A c.(1015-1017)Gga>Aga p.G339R COADREAD 8 67064656 67064656 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:67064656G>T c.1030G>T c.(1030-1032)Gaa>Taa p.E344* COADREAD 8 67064760 67064760 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:67064760G>A c.1134G>A c.(1132-1134)gaG>gaA p.E378E COADREAD 8 67064825 67064825 + Missense_Mutation SNP C C A TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr8:67064825C>A c.1199C>A c.(1198-1200)cCa>cAa p.P400Q COADREAD 8 67066360 67066360 + Missense_Mutation SNP C C T TCGA-AG-3583-01A-01W-0831-10 TCGA-AG-3583-10A-01W-0831-10 g.chr8:67066360C>T c.1315C>T c.(1315-1317)Ccc>Tcc p.P439S COADREAD 8 67066396 67066396 + Missense_Mutation SNP C C T TCGA-F4-6806-01A-11D-1835-10 TCGA-F4-6806-10A-01D-1835-10 g.chr8:67066396C>T c.1351C>T c.(1351-1353)Cgg>Tgg p.R451W COADREAD 8 67066397 67066397 + Missense_Mutation SNP G G A TCGA-AA-3875-01A-01W-0900-09 TCGA-AA-3875-10A-01W-0902-09 g.chr8:67066397G>A c.1352G>A c.(1351-1353)cGg>cAg p.R451Q COADREAD 8 67066426 67066426 + Missense_Mutation SNP C C A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr8:67066426C>A c.1381C>A c.(1381-1383)Cca>Aca p.P461T COADREAD 8 67066483 67066483 + Missense_Mutation SNP C C T TCGA-A6-2677-01A-01W-0831-10 TCGA-A6-2677-10A-01W-0831-10 g.chr8:67066483C>T c.1438C>T c.(1438-1440)Cgg>Tgg p.R480W DLBC 8 67067878 67067878 + Intron SNP G G A TCGA-GS-A9TY-01A-11D-A38X-10 TCGA-GS-A9TY-10A-01D-A38X-10 g.chr8:67067878G>A ESCA 8 67062654 67062654 + Missense_Mutation SNP A A C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 g.chr8:67062654A>C c.938A>C c.(937-939)aAc>aCc p.N313T ESCA 8 67062681 67062681 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 g.chr8:67062681G>T c.965G>T c.(964-966)cGt>cTt p.R322L ESCA 8 67066571 67066571 + Splice_Site SNP T T C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 g.chr8:67066571T>C c.e9+2 GBM 8 67040581 67040581 + Missense_Mutation SNP G G T TCGA-27-2519-01A-01D-1494-08 TCGA-27-2519-10A-01D-1494-08 g.chr8:67040581G>T c.211G>T c.(211-213)Gca>Tca p.A71S GBM 8 67062093 67062093 + Nonsense_Mutation SNP G G T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 g.chr8:67062093G>T c.817G>T c.(817-819)Gaa>Taa p.E273* GBMLGG 8 67039513 67039513 + Missense_Mutation SNP T T C TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 g.chr8:67039513T>C c.10T>C c.(10-12)Tct>Cct p.S4P GBMLGG 8 67040581 67040581 + Missense_Mutation SNP G G T TCGA-27-2519-01A-01D-1494-08 TCGA-27-2519-10A-01D-1494-08 g.chr8:67040581G>T c.211G>T c.(211-213)Gca>Tca p.A71S GBMLGG 8 67047371 67047372 + Frame_Shift_Del DEL AT AT - TCGA-DH-A66D-01A-11D-A31L-08 TCGA-DH-A66D-10A-01D-A31J-08 g.chr8:67047371_67047372delAT c.488_489delAT c.(487-489)catfs p.H163fs GBMLGG 8 67062093 67062093 + Nonsense_Mutation SNP G G T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 g.chr8:67062093G>T c.817G>T c.(817-819)Gaa>Taa p.E273* GBMLGG 8 67086746 67086746 + Missense_Mutation SNP C C T TCGA-DB-A4XF-01A-11D-A27K-08 TCGA-DB-A4XF-10A-01D-A27N-08 g.chr8:67086746C>T c.1565C>T c.(1564-1566)gCt>gTt p.A522V HNSC 8 67039550 67039550 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 g.chr8:67039550C>G c.47C>G c.(46-48)aCc>aGc p.T16S HNSC 8 67039641 67039641 + Silent SNP G G T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 g.chr8:67039641G>T c.138G>T c.(136-138)ctG>ctT p.L46L HNSC 8 67040642 67040642 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr8:67040642G>A c.272G>A c.(271-273)gGg>gAg p.G91E HNSC 8 67062073 67062073 + Missense_Mutation SNP T T C TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 g.chr8:67062073T>C c.797T>C c.(796-798)aTt>aCt p.I266T HNSC 8 67062613 67062613 + Missense_Mutation SNP A A T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 g.chr8:67062613A>T c.897A>T c.(895-897)aaA>aaT p.K299N HNSC 8 67066571 67066571 + Splice_Site SNP T T G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 g.chr8:67066571T>G c.e9+2 KIPAN 8 67047249 67047249 + Silent SNP C C A TCGA-B8-4151-01A-01D-1806-10 TCGA-B8-4151-10A-01D-1251-10 g.chr8:67047249C>A c.366C>A c.(364-366)ccC>ccA p.P122P KIPAN 8 67064722 67064722 + Frame_Shift_Del DEL T T - TCGA-HE-A5NL-01A-11D-A26P-10 TCGA-HE-A5NL-10A-01D-A26P-10 g.chr8:67064722delT c.1096delT c.(1096-1098)tttfs p.F366fs KIPAN 8 67064733 67064733 + Missense_Mutation SNP A A C TCGA-CZ-5989-01A-11D-1669-08 TCGA-CZ-5989-11A-01D-1669-08 g.chr8:67064733A>C c.1107A>C c.(1105-1107)gaA>gaC p.E369D KIRC 8 67047249 67047249 + Silent SNP C C A TCGA-B8-4151-01A-01D-1806-10 TCGA-B8-4151-10A-01D-1251-10 g.chr8:67047249C>A c.366C>A c.(364-366)ccC>ccA p.P122P KIRC 8 67064733 67064733 + Missense_Mutation SNP A A C TCGA-CZ-5989-01A-11D-1669-08 TCGA-CZ-5989-11A-01D-1669-08 g.chr8:67064733A>C c.1107A>C c.(1105-1107)gaA>gaC p.E369D KIRP 8 67064722 67064722 + Frame_Shift_Del DEL T T - TCGA-HE-A5NL-01A-11D-A26P-10 TCGA-HE-A5NL-10A-01D-A26P-10 g.chr8:67064722delT c.1096delT c.(1096-1098)tttfs p.F366fs LGG 8 67039513 67039513 + Missense_Mutation SNP T T C TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 g.chr8:67039513T>C c.10T>C c.(10-12)Tct>Cct p.S4P LGG 8 67047371 67047372 + Frame_Shift_Del DEL AT AT - TCGA-DH-A66D-01A-11D-A31L-08 TCGA-DH-A66D-10A-01D-A31J-08 g.chr8:67047371_67047372delAT c.488_489delAT c.(487-489)catfs p.H163fs LGG 8 67086746 67086746 + Missense_Mutation SNP C C T TCGA-DB-A4XF-01A-11D-A27K-08 TCGA-DB-A4XF-10A-01D-A27N-08 g.chr8:67086746C>T c.1565C>T c.(1564-1566)gCt>gTt p.A522V LIHC 8 67049364 67049364 + Missense_Mutation SNP G G T TCGA-CC-A8HV-01A-11D-A35Z-10 TCGA-CC-A8HV-10A-01D-A35Z-10 g.chr8:67049364G>T c.542G>T c.(541-543)gGc>gTc p.G181V LIHC 8 67067941 67067941 + Intron SNP A A C TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr8:67067941A>C LIHC 8 67067941 67067941 + Intron SNP A A C TCGA-DD-A1EJ-01A-11D-A152-10 TCGA-DD-A1EJ-10A-01D-A152-10 g.chr8:67067941A>C LUAD 8 67040549 67040549 + Missense_Mutation SNP C C G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 g.chr8:67040549C>G c.179C>G c.(178-180)cCg>cGg p.P60R LUAD 8 67047232 67047232 + Nonsense_Mutation SNP A A T TCGA-NJ-A4YF-01A-12D-A25L-08 TCGA-NJ-A4YF-10A-01D-A25L-08 g.chr8:67047232A>T c.349A>T c.(349-351)Aag>Tag p.K117* LUAD 8 67061897 67061897 + Missense_Mutation SNP G G C TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr8:67061897G>C c.621G>C c.(619-621)caG>caC p.Q207H LUAD 8 67062048 67062048 + Missense_Mutation SNP G G A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr8:67062048G>A c.772G>A c.(772-774)Gtc>Atc p.V258I LUAD 8 67062624 67062624 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr8:67062624G>A c.908G>A c.(907-909)gGc>gAc p.G303D LUAD 8 67064862 67064862 + Splice_Site SNP G G A TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr8:67064862G>A c.1236G>A c.(1234-1236)caG>caA p.Q412Q LUAD 8 67064863 67064863 + Splice_Site SNP G G T TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr8:67064863G>T c.e8+1 LUAD 8 67066418 67066418 + Missense_Mutation SNP C C T TCGA-95-7562-01A-11D-2238-08 TCGA-95-7562-10B-01D-2238-08 g.chr8:67066418C>T c.1373C>T c.(1372-1374)cCt>cTt p.P458L LUAD 8 67066507 67066507 + Missense_Mutation SNP G G T TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr8:67066507G>T c.1462G>T c.(1462-1464)Gca>Tca p.A488S LUAD 8 67086790 67086790 + Missense_Mutation SNP A A T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 g.chr8:67086790A>T c.1609A>T c.(1609-1611)Atc>Ttc p.I537F LUSC 8 67040550 67040550 + Silent SNP G G A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 g.chr8:67040550G>A c.180G>A c.(178-180)ccG>ccA p.P60P LUSC 8 67040638 67040638 + Missense_Mutation SNP C C T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr8:67040638C>T c.268C>T c.(268-270)Cat>Tat p.H90Y LUSC 8 67047300 67047300 + Silent SNP C C T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 g.chr8:67047300C>T c.417C>T c.(415-417)tgC>tgT p.C139C LUSC 8 67047317 67047317 + Missense_Mutation SNP C C A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr8:67047317C>A c.434C>A c.(433-435)tCt>tAt p.S145Y LUSC 8 67047381 67047381 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr8:67047381G>A c.498G>A c.(496-498)caG>caA p.Q166Q LUSC 8 67064761 67064761 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr8:67064761C>T c.1135C>T c.(1135-1137)Ctc>Ttc p.L379F LUSC 8 67064773 67064773 + Nonsense_Mutation SNP G G T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr8:67064773G>T c.1147G>T c.(1147-1149)Gag>Tag p.E383* LUSC 8 67064781 67064781 + Missense_Mutation SNP G G T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr8:67064781G>T c.1155G>T c.(1153-1155)caG>caT p.Q385H OV 8 67039617 67039617 + Silent SNP G G A TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 g.chr8:67039617G>A c.114G>A c.(112-114)gtG>gtA p.V38V OV 8 67040639 67040639 + Missense_Mutation SNP A A C TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 g.chr8:67040639A>C c.269A>C c.(268-270)cAt>cCt p.H90P PAAD 8 67040557 67040557 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:67040557C>T c.187C>T c.(187-189)Ccc>Tcc p.P63S PAAD 8 67066340 67066340 + Missense_Mutation SNP C C A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 g.chr8:67066340C>A c.1295C>A c.(1294-1296)gCa>gAa p.A432E READ 8 67047301 67047301 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:67047301G>A c.418G>A c.(418-420)Gaa>Aaa p.E140K READ 8 67062025 67062025 + Missense_Mutation SNP A A G TCGA-CI-6620-01A-11D-1826-10 TCGA-CI-6620-10A-01D-1826-10 g.chr8:67062025A>G c.749A>G c.(748-750)aAg>aGg p.K250R READ 8 67062668 67062668 + Nonsense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr8:67062668G>T c.952G>T c.(952-954)Gaa>Taa p.E318* READ 8 67064656 67064656 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:67064656G>T c.1030G>T c.(1030-1032)Gaa>Taa p.E344* READ 8 67066360 67066360 + Missense_Mutation SNP C C T TCGA-AG-3583-01A-01W-0831-10 TCGA-AG-3583-10A-01W-0831-10 g.chr8:67066360C>T c.1315C>T c.(1315-1317)Ccc>Tcc p.P439S SKCM 8 67039548 67039548 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr8:67039548G>A c.45G>A c.(43-45)caG>caA p.Q15Q SKCM 8 67039647 67039647 + Silent SNP G G A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 g.chr8:67039647G>A c.144G>A c.(142-144)agG>agA p.R48R SKCM 8 67039668 67039668 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr8:67039668C>T c.165C>T c.(163-165)ttC>ttT p.F55F SKCM 8 67039669 67039669 + Missense_Mutation SNP C C A TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr8:67039669C>A c.166C>A c.(166-168)Cag>Aag p.Q56K SKCM 8 67040673 67040673 + Silent SNP G G A TCGA-ER-A19M-06A-61D-A23B-08 TCGA-ER-A19M-10A-01D-A23B-08 g.chr8:67040673G>A c.303G>A c.(301-303)gtG>gtA p.V101V SKCM 8 67040674 67040674 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr8:67040674G>A c.304G>A c.(304-306)Gaa>Aaa p.E102K SKCM 8 67040682 67040682 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr8:67040682C>T c.312C>T c.(310-312)atC>atT p.I104I SKCM 8 67047234 67047234 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr8:67047234G>A c.351G>A c.(349-351)aaG>aaA p.K117K SKCM 8 67047236 67047236 + Missense_Mutation SNP A A T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr8:67047236A>T c.353A>T c.(352-354)aAa>aTa p.K118I SKCM 8 67047249 67047249 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr8:67047249C>T c.366C>T c.(364-366)ccC>ccT p.P122P SKCM 8 67047381 67047381 + Silent SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr8:67047381G>A c.498G>A c.(496-498)caG>caA p.Q166Q SKCM 8 67049333 67049333 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr8:67049333G>A c.511G>A c.(511-513)Gag>Aag p.E171K SKCM 8 67049401 67049401 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr8:67049401G>A c.579G>A c.(577-579)ctG>ctA p.L193L SKCM 8 67061995 67061995 + Missense_Mutation SNP A A C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 g.chr8:67061995A>C c.719A>C c.(718-720)aAa>aCa p.K240T SKCM 8 67062036 67062036 + Missense_Mutation SNP C C T TCGA-ER-A19W-06A-41D-A23B-08 TCGA-ER-A19W-10A-01D-A23B-08 g.chr8:67062036C>T c.760C>T c.(760-762)Cat>Tat p.H254Y SKCM 8 67062070 67062070 + Missense_Mutation SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr8:67062070G>A c.794G>A c.(793-795)gGa>gAa p.G265E SKCM 8 67062108 67062108 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 g.chr8:67062108C>T c.832C>T c.(832-834)Ctg>Ttg p.L278L SKCM 8 67062607 67062607 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr8:67062607G>A c.891G>A c.(889-891)atG>atA p.M297I SKCM 8 67062683 67062683 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr8:67062683G>A c.967G>A c.(967-969)Gaa>Aaa p.E323K SKCM 8 67062683 67062683 + Missense_Mutation SNP G G A TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr8:67062683G>A c.967G>A c.(967-969)Gaa>Aaa p.E323K SKCM 8 67064668 67064668 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr8:67064668G>A c.1042G>A c.(1042-1044)Gaa>Aaa p.E348K SKCM 8 67064740 67064740 + Missense_Mutation SNP A A T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 g.chr8:67064740A>T c.1114A>T c.(1114-1116)Aac>Tac p.N372Y SKCM 8 67064772 67064772 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr8:67064772G>A c.1146G>A c.(1144-1146)gtG>gtA p.V382V SKCM 8 67064807 67064807 + Missense_Mutation SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr8:67064807C>T c.1181C>T c.(1180-1182)tCc>tTc p.S394F SKCM 8 67066357 67066357 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr8:67066357G>A c.1312G>A c.(1312-1314)Gat>Aat p.D438N SKCM 8 67066387 67066387 + Missense_Mutation SNP G G A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr8:67066387G>A c.1342G>A c.(1342-1344)Ggc>Agc p.G448S SKCM 8 67066388 67066388 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 g.chr8:67066388G>A c.1343G>A c.(1342-1344)gGc>gAc p.G448D SKCM 8 67066400 67066400 + Missense_Mutation SNP A A G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr8:67066400A>G c.1355A>G c.(1354-1356)aAa>aGa p.K452R SKCM 8 67066438 67066438 + Missense_Mutation SNP G G T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr8:67066438G>T c.1393G>T c.(1393-1395)Ggt>Tgt p.G465C SKCM 8 67066476 67066476 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr8:67066476G>A c.1431G>A c.(1429-1431)tcG>tcA p.S477S SKCM 8 67066484 67066484 + Missense_Mutation SNP G G A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr8:67066484G>A c.1439G>A c.(1438-1440)cGg>cAg p.R480Q SKCM 8 67086746 67086746 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr8:67086746C>T c.1565C>T c.(1564-1566)gCt>gTt p.A522V SKCM 8 67086797 67086797 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr8:67086797C>T c.1616C>T c.(1615-1617)tCc>tTc p.S539F SKCM 8 67086803 67086803 + Missense_Mutation SNP C C A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr8:67086803C>A c.1622C>A c.(1621-1623)tCc>tAc p.S541Y

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 8 67040613 67040613 single base substitution T C synonymous_variant C81C 243T>C BLCA-US 8 67047319 67047319 single base substitution C T synonymous_variant L146L 436C>T BLCA-US 8 67086715 67086715 single base substitution G C exon_variant BLCA-US 8 67086715 67086715 single base substitution G C missense_variant E205Q 613G>C BLCA-US 8 67086715 67086715 single base substitution G C missense_variant E416Q 1246G>C BLCA-US 8 67086715 67086715 single base substitution G C missense_variant E512Q 1534G>C BLCA-US 8 67086715 67086715 single base substitution G C stop_lost *541S 1622G>C BLCA-US 8 67089287 67089287 single base substitution G A downstream_gene_variant BLCA-US 8 67089335 67089335 single base substitution G A downstream_gene_variant BOCA-FR 8 67056550 67056550 single base substitution A G intron_variant BRCA-EU 8 67034254 67034254 single base substitution C A upstream_gene_variant BRCA-EU 8 67035034 67035037 deletion of <=200bp AACA - upstream_gene_variant BRCA-EU 8 67035753 67035753 single base substitution T A upstream_gene_variant BRCA-EU 8 67035794 67035794 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 67035794 67035794 insertion of <=200bp - A upstream_gene_variant BRCA-EU 8 67035803 67035803 single base substitution G A upstream_gene_variant BRCA-EU 8 67035938 67035938 insertion of <=200bp - A upstream_gene_variant BRCA-EU 8 67037334 67037334 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 67037334 67037334 insertion of <=200bp - T upstream_gene_variant BRCA-EU 8 67037474 67037474 single base substitution G T upstream_gene_variant BRCA-EU 8 67037577 67037577 single base substitution C T upstream_gene_variant BRCA-EU 8 67037603 67037603 single base substitution C G upstream_gene_variant BRCA-EU 8 67038194 67038194 single base substitution G T upstream_gene_variant BRCA-EU 8 67039068 67039068 single base substitution C A upstream_gene_variant BRCA-EU 8 67040593 67040593 single base substitution C T stop_gained R75* 223C>T BRCA-EU 8 67040594 67040594 single base substitution G A missense_variant R75Q 224G>A BRCA-EU 8 67042662 67042662 single base substitution G C intron_variant BRCA-EU 8 67043015 67043015 single base substitution C T intron_variant BRCA-EU 8 67044423 67044423 single base substitution C T intron_variant BRCA-EU 8 67044644 67044644 single base substitution G C intron_variant BRCA-EU 8 67044764 67044764 single base substitution C A intron_variant BRCA-EU 8 67044965 67044965 single base substitution A G intron_variant BRCA-EU 8 67045274 67045274 single base substitution G A intron_variant BRCA-EU 8 67045306 67045306 single base substitution G A intron_variant BRCA-EU 8 67045656 67045656 single base substitution G A intron_variant BRCA-EU 8 67045778 67045778 single base substitution G A intron_variant BRCA-EU 8 67045814 67045814 single base substitution A G intron_variant BRCA-EU 8 67046613 67046613 single base substitution C T intron_variant BRCA-EU 8 67048001 67048001 single base substitution C T intron_variant BRCA-EU 8 67048005 67048005 single base substitution G A intron_variant BRCA-EU 8 67048195 67048195 single base substitution C A intron_variant BRCA-EU 8 67049120 67049120 single base substitution G A intron_variant BRCA-EU 8 67049402 67049402 single base substitution G T stop_gained E194* 580G>T BRCA-EU 8 67050219 67050219 single base substitution C T intron_variant BRCA-EU 8 67050700 67050700 single base substitution C T intron_variant BRCA-EU 8 67050862 67050862 single base substitution G T intron_variant BRCA-EU 8 67050871 67050871 single base substitution G A intron_variant BRCA-EU 8 67051143 67051143 single base substitution C G intron_variant BRCA-EU 8 67051812 67051812 single base substitution G A intron_variant BRCA-EU 8 67052946 67052946 single base substitution T G intron_variant BRCA-EU 8 67053447 67053447 single base substitution A G intron_variant BRCA-EU 8 67053458 67053458 single base substitution G C intron_variant BRCA-EU 8 67053564 67053564 single base substitution C A intron_variant BRCA-EU 8 67053796 67053796 single base substitution C G intron_variant BRCA-EU 8 67053815 67053815 single base substitution C T intron_variant BRCA-EU 8 67054551 67054551 single base substitution A G intron_variant BRCA-EU 8 67055755 67055755 single base substitution C A intron_variant BRCA-EU 8 67056157 67056157 single base substitution C T intron_variant BRCA-EU 8 67056434 67056434 single base substitution G T intron_variant BRCA-EU 8 67057662 67057662 single base substitution C G intron_variant BRCA-EU 8 67057780 67057780 single base substitution G C intron_variant BRCA-EU 8 67057977 67057977 single base substitution C A intron_variant BRCA-EU 8 67058080 67058080 single base substitution A C intron_variant BRCA-EU 8 67058603 67058603 deletion of <=200bp A - intron_variant BRCA-EU 8 67060137 67060137 insertion of <=200bp - A intron_variant BRCA-EU 8 67060137 67060137 insertion of <=200bp - A upstream_gene_variant BRCA-EU 8 67060880 67060880 single base substitution G T intron_variant BRCA-EU 8 67060880 67060880 single base substitution G T upstream_gene_variant BRCA-EU 8 67061306 67061306 single base substitution C G intron_variant BRCA-EU 8 67061306 67061306 single base substitution C G upstream_gene_variant BRCA-EU 8 67061307 67061307 deletion of <=200bp A - intron_variant BRCA-EU 8 67061307 67061307 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 67062108 67062108 single base substitution C T intron_variant BRCA-EU 8 67062108 67062108 single base substitution C T synonymous_variant L278L 832C>T BRCA-EU 8 67062108 67062108 single base substitution C T upstream_gene_variant BRCA-EU 8 67062451 67062451 single base substitution G A intron_variant BRCA-EU 8 67062451 67062451 single base substitution G A splice_acceptor_variant BRCA-EU 8 67062451 67062451 single base substitution G A upstream_gene_variant BRCA-EU 8 67062647 67062647 single base substitution A G intron_variant BRCA-EU 8 67062647 67062647 single base substitution A G missense_variant T311A 931A>G BRCA-EU 8 67062647 67062647 single base substitution A G upstream_gene_variant BRCA-EU 8 67062667 67062667 single base substitution A T intron_variant BRCA-EU 8 67062667 67062667 single base substitution A T missense_variant E317D 951A>T BRCA-EU 8 67062667 67062667 single base substitution A T upstream_gene_variant BRCA-EU 8 67064073 67064073 single base substitution T C intron_variant BRCA-EU 8 67064073 67064073 single base substitution T C upstream_gene_variant BRCA-EU 8 67064153 67064153 single base substitution G C intron_variant BRCA-EU 8 67064153 67064153 single base substitution G C upstream_gene_variant BRCA-EU 8 67065531 67065531 deletion of <=200bp C - intron_variant BRCA-EU 8 67065638 67065638 single base substitution C A intron_variant BRCA-EU 8 67065859 67065859 single base substitution A C intron_variant BRCA-EU 8 67067029 67067029 single base substitution G C intron_variant BRCA-EU 8 67067623 67067623 single base substitution G T intron_variant BRCA-EU 8 67068765 67068765 single base substitution A C intron_variant BRCA-EU 8 67068974 67068974 single base substitution T G intron_variant BRCA-EU 8 67072512 67072512 single base substitution G A intron_variant BRCA-EU 8 67073237 67073237 single base substitution T A intron_variant BRCA-EU 8 67073562 67073562 single base substitution G C intron_variant BRCA-EU 8 67073811 67073811 single base substitution T A intron_variant BRCA-EU 8 67073950 67073950 single base substitution G T intron_variant BRCA-EU 8 67074252 67074252 single base substitution C G intron_variant BRCA-EU 8 67075446 67075446 deletion of <=200bp A - intron_variant BRCA-EU 8 67075446 67075446 single base substitution A T intron_variant BRCA-EU 8 67075457 67075457 single base substitution A G intron_variant BRCA-EU 8 67075626 67075626 single base substitution C T intron_variant BRCA-EU 8 67076256 67076256 single base substitution A T intron_variant BRCA-EU 8 67077162 67077162 single base substitution G C intron_variant BRCA-EU 8 67078463 67078463 single base substitution G C intron_variant BRCA-EU 8 67078627 67078627 single base substitution A G intron_variant BRCA-EU 8 67078928 67078928 single base substitution T G intron_variant BRCA-EU 8 67080744 67080744 single base substitution C T intron_variant BRCA-EU 8 67082854 67082854 single base substitution A T intron_variant BRCA-EU 8 67083762 67083762 single base substitution T G intron_variant BRCA-EU 8 67083917 67083917 single base substitution C A intron_variant BRCA-EU 8 67085955 67085955 single base substitution C G intron_variant BRCA-EU 8 67086857 67086857 single base substitution T G 3_prime_UTR_variant BRCA-EU 8 67086857 67086857 single base substitution T G downstream_gene_variant BRCA-EU 8 67086857 67086857 single base substitution T G exon_variant BRCA-EU 8 67087218 67087218 single base substitution C T 3_prime_UTR_variant BRCA-EU 8 67087218 67087218 single base substitution C T downstream_gene_variant BRCA-EU 8 67087218 67087218 single base substitution C T exon_variant BRCA-EU 8 67087592 67087592 single base substitution C T 3_prime_UTR_variant BRCA-EU 8 67087592 67087592 single base substitution C T downstream_gene_variant BRCA-EU 8 67088154 67088154 single base substitution A C downstream_gene_variant BRCA-EU 8 67088661 67088661 single base substitution C G downstream_gene_variant BRCA-EU 8 67089438 67089438 single base substitution G A downstream_gene_variant BRCA-EU 8 67089985 67089985 single base substitution A G downstream_gene_variant BRCA-EU 8 67090397 67090398 deletion of <=200bp AC - downstream_gene_variant BRCA-EU 8 67090513 67090513 single base substitution C G downstream_gene_variant BRCA-EU 8 67091482 67091482 single base substitution G T downstream_gene_variant BRCA-EU 8 67091752 67091752 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 67091752 67091752 insertion of <=200bp - A downstream_gene_variant BRCA-EU 8 67091852 67091852 deletion of <=200bp C - downstream_gene_variant BRCA-FR 8 67034254 67034254 single base substitution C A upstream_gene_variant BRCA-FR 8 67044644 67044644 single base substitution G C intron_variant BRCA-FR 8 67048001 67048001 single base substitution C T intron_variant BRCA-FR 8 67048195 67048195 single base substitution C A intron_variant BRCA-FR 8 67051143 67051143 single base substitution C G intron_variant BRCA-FR 8 67053796 67053796 single base substitution C G intron_variant BRCA-FR 8 67054464 67054464 single base substitution C G intron_variant BRCA-FR 8 67057662 67057662 single base substitution C G intron_variant BRCA-FR 8 67064153 67064153 single base substitution G C intron_variant BRCA-FR 8 67064153 67064153 single base substitution G C upstream_gene_variant BRCA-FR 8 67066132 67066132 single base substitution G A intron_variant BRCA-FR 8 67068563 67068563 single base substitution G C intron_variant BRCA-FR 8 67073562 67073562 single base substitution G C intron_variant BRCA-FR 8 67076394 67076394 single base substitution G T intron_variant BRCA-FR 8 67085955 67085955 single base substitution C G intron_variant BRCA-FR 8 67087218 67087218 single base substitution C T 3_prime_UTR_variant BRCA-FR 8 67087218 67087218 single base substitution C T downstream_gene_variant BRCA-FR 8 67087218 67087218 single base substitution C T exon_variant BRCA-FR 8 67089438 67089438 single base substitution G A downstream_gene_variant BRCA-FR 8 67089985 67089985 single base substitution A G downstream_gene_variant BRCA-UK 8 67050871 67050871 single base substitution G A intron_variant BRCA-UK 8 67052946 67052946 single base substitution T G intron_variant BRCA-UK 8 67067029 67067029 single base substitution G C intron_variant BRCA-UK 8 67073950 67073950 single base substitution G T intron_variant BRCA-UK 8 67082699 67082699 single base substitution T G intron_variant BRCA-UK 8 67085676 67085676 single base substitution C G intron_variant BRCA-UK 8 67086671 67086671 single base substitution C G intron_variant BRCA-UK 8 67086856 67086856 single base substitution C G 3_prime_UTR_variant BRCA-UK 8 67086856 67086856 single base substitution C G downstream_gene_variant BRCA-UK 8 67086856 67086856 single base substitution C G exon_variant BRCA-UK 8 67087212 67087212 single base substitution C T 3_prime_UTR_variant BRCA-UK 8 67087212 67087212 single base substitution C T downstream_gene_variant BRCA-UK 8 67087212 67087212 single base substitution C T exon_variant BRCA-UK 8 67087345 67087345 single base substitution C G 3_prime_UTR_variant BRCA-UK 8 67087345 67087345 single base substitution C G downstream_gene_variant BRCA-UK 8 67088264 67088264 single base substitution C T downstream_gene_variant BRCA-UK 8 67088985 67088985 single base substitution C G downstream_gene_variant BRCA-UK 8 67089313 67089313 single base substitution C G downstream_gene_variant BRCA-US 8 67039518 67039518 single base substitution G A synonymous_variant L5L 15G>A BRCA-US 8 67040682 67040682 single base substitution C A synonymous_variant I104I 312C>A BRCA-US 8 67049371 67049371 single base substitution C T synonymous_variant N183N 549C>T BRCA-US 8 67062075 67062075 single base substitution C T intron_variant BRCA-US 8 67062075 67062075 single base substitution C T stop_gained Q267* 799C>T BRCA-US 8 67062075 67062075 single base substitution C T upstream_gene_variant BRCA-US 8 67062591 67062591 single base substitution C G intron_variant BRCA-US 8 67062591 67062591 single base substitution C G stop_gained S292* 875C>G BRCA-US 8 67062591 67062591 single base substitution C G upstream_gene_variant BRCA-US 8 67064633 67064633 single base substitution A C exon_variant BRCA-US 8 67064633 67064633 single base substitution A C intron_variant BRCA-US 8 67064633 67064633 single base substitution A C missense_variant E336A 1007A>C BRCA-US 8 67064728 67064728 single base substitution G T exon_variant BRCA-US 8 67064728 67064728 single base substitution G T intron_variant BRCA-US 8 67064728 67064728 single base substitution G T stop_gained G368* 1102G>T BRCA-US 8 67066551 67066551 single base substitution A C intron_variant BRCA-US 8 67066551 67066551 single base substitution A C synonymous_variant A502A 1506A>C BTCA-JP 8 67040788 67040788 single base substitution C T intron_variant BTCA-JP 8 67062536 67062536 single base substitution T A intron_variant BTCA-JP 8 67062536 67062536 single base substitution T A upstream_gene_variant BTCA-JP 8 67066397 67066397 single base substitution G A intron_variant BTCA-JP 8 67066397 67066397 single base substitution G A missense_variant R451Q 1352G>A BTCA-JP 8 67066507 67066507 single base substitution G A intron_variant BTCA-JP 8 67066507 67066507 single base substitution G A missense_variant A488T 1462G>A BTCA-JP 8 67066558 67066558 single base substitution G T intron_variant BTCA-JP 8 67066558 67066558 single base substitution G T missense_variant A505S 1513G>T BTCA-JP 8 67067785 67067785 single base substitution A C intron_variant BTCA-JP 8 67067891 67067891 single base substitution C G intron_variant BTCA-JP 8 67067891 67067891 single base substitution C G missense_variant L520V 1558C>G BTCA-JP 8 67068005 67068005 single base substitution C G intron_variant BTCA-JP 8 67068136 67068136 single base substitution G A intron_variant BTCA-JP 8 67086875 67086875 single base substitution G A 3_prime_UTR_variant BTCA-JP 8 67086875 67086875 single base substitution G A downstream_gene_variant BTCA-JP 8 67086875 67086875 single base substitution G A exon_variant BTCA-JP 8 67089441 67089441 single base substitution G A downstream_gene_variant CESC-US 8 67062588 67062588 single base substitution C T intron_variant CESC-US 8 67062588 67062588 single base substitution C T missense_variant A291V 872C>T CESC-US 8 67062588 67062588 single base substitution C T upstream_gene_variant CESC-US 8 67064640 67064640 single base substitution C T exon_variant CESC-US 8 67064640 67064640 single base substitution C T intron_variant CESC-US 8 67064640 67064640 single base substitution C T synonymous_variant G338G 1014C>T CESC-US 8 67089290 67089290 single base substitution G C downstream_gene_variant CLLE-ES 8 67038588 67038588 single base substitution A G upstream_gene_variant CLLE-ES 8 67051672 67051672 single base substitution C T intron_variant CLLE-ES 8 67061540 67061540 single base substitution A G intron_variant CLLE-ES 8 67061540 67061540 single base substitution A G upstream_gene_variant CLLE-ES 8 67065234 67065234 single base substitution G T intron_variant CLLE-ES 8 67066355 67066355 single base substitution C T intron_variant CLLE-ES 8 67066355 67066355 single base substitution C T missense_variant A437V 1310C>T CLLE-ES 8 67086666 67086666 single base substitution A C intron_variant COAD-US 8 67039529 67039529 single base substitution C A missense_variant S9Y 26C>A COAD-US 8 67039672 67039672 single base substitution G T splice_donor_variant COAD-US 8 67040565 67040565 single base substitution A C missense_variant R65S 195A>C COAD-US 8 67040594 67040594 single base substitution G A missense_variant R75Q 224G>A COAD-US 8 67040615 67040615 single base substitution G T missense_variant R82I 245G>T COAD-US 8 67040677 67040677 single base substitution A C missense_variant N103H 307A>C COAD-US 8 67061928 67061928 single base substitution C A intron_variant COAD-US 8 67061928 67061928 single base substitution C A missense_variant L218M 652C>A COAD-US 8 67061928 67061928 single base substitution C A upstream_gene_variant COAD-US 8 67062060 67062060 single base substitution G C intron_variant COAD-US 8 67062060 67062060 single base substitution G C missense_variant V262L 784G>C COAD-US 8 67062060 67062060 single base substitution G C upstream_gene_variant COAD-US 8 67064641 67064641 single base substitution G A exon_variant COAD-US 8 67064641 67064641 single base substitution G A intron_variant COAD-US 8 67064641 67064641 single base substitution G A missense_variant G339R 1015G>A COAD-US 8 67064760 67064760 single base substitution G A exon_variant COAD-US 8 67064760 67064760 single base substitution G A intron_variant COAD-US 8 67064760 67064760 single base substitution G A synonymous_variant E378E 1134G>A COAD-US 8 67064825 67064825 single base substitution C A exon_variant COAD-US 8 67064825 67064825 single base substitution C A intron_variant COAD-US 8 67064825 67064825 single base substitution C A missense_variant P400Q 1199C>A COAD-US 8 67066396 67066396 single base substitution C T intron_variant COAD-US 8 67066396 67066396 single base substitution C T missense_variant R451W 1351C>T COCA-CN 8 67039562 67039562 single base substitution T C missense_variant L20S 59T>C COCA-CN 8 67043767 67043767 single base substitution C A intron_variant COCA-CN 8 67062182 67062182 single base substitution T G intron_variant COCA-CN 8 67062182 67062182 single base substitution T G upstream_gene_variant COCA-CN 8 67068010 67068010 single base substitution C A intron_variant COCA-CN 8 67070755 67070755 single base substitution G A intron_variant COCA-CN 8 67072227 67072227 single base substitution C A intron_variant COCA-CN 8 67083473 67083473 single base substitution A C intron_variant COCA-CN 8 67087430 67087430 single base substitution C T 3_prime_UTR_variant COCA-CN 8 67087430 67087430 single base substitution C T downstream_gene_variant EOPC-DE 8 67061215 67061215 single base substitution C T intron_variant EOPC-DE 8 67061215 67061215 single base substitution C T upstream_gene_variant EOPC-DE 8 67079877 67079877 single base substitution T C intron_variant ESAD-UK 8 67036295 67036295 single base substitution C G upstream_gene_variant ESAD-UK 8 67039715 67039715 single base substitution A C intron_variant ESAD-UK 8 67040842 67040842 single base substitution A C intron_variant ESAD-UK 8 67041846 67041846 single base substitution C A intron_variant ESAD-UK 8 67044371 67044371 single base substitution A C intron_variant ESAD-UK 8 67044579 67044579 single base substitution T C intron_variant ESAD-UK 8 67044688 67044688 insertion of <=200bp - A intron_variant ESAD-UK 8 67045995 67045995 single base substitution C A intron_variant ESAD-UK 8 67046170 67046171 deletion of <=200bp AC - intron_variant ESAD-UK 8 67046403 67046403 single base substitution C A intron_variant ESAD-UK 8 67046983 67046983 single base substitution G A intron_variant ESAD-UK 8 67047273 67047273 single base substitution G A synonymous_variant E130E 390G>A ESAD-UK 8 67047624 67047624 single base substitution C T intron_variant ESAD-UK 8 67047999 67047999 single base substitution G A intron_variant ESAD-UK 8 67048453 67048453 single base substitution C T intron_variant ESAD-UK 8 67048618 67048618 single base substitution T C intron_variant ESAD-UK 8 67049350 67049350 single base substitution C T synonymous_variant I176I 528C>T ESAD-UK 8 67050485 67050485 single base substitution T C intron_variant ESAD-UK 8 67051329 67051329 single base substitution A G intron_variant ESAD-UK 8 67051906 67051906 single base substitution A C intron_variant ESAD-UK 8 67052138 67052138 single base substitution C T intron_variant ESAD-UK 8 67053564 67053564 single base substitution C T intron_variant ESAD-UK 8 67053695 67053695 single base substitution T A intron_variant ESAD-UK 8 67053696 67053696 single base substitution C A intron_variant ESAD-UK 8 67054386 67054386 single base substitution G C intron_variant ESAD-UK 8 67054825 67054825 single base substitution A G intron_variant ESAD-UK 8 67055486 67055486 single base substitution T A intron_variant ESAD-UK 8 67055805 67055805 single base substitution C A intron_variant ESAD-UK 8 67055991 67055991 single base substitution G T intron_variant ESAD-UK 8 67056234 67056234 single base substitution G T intron_variant ESAD-UK 8 67057319 67057319 single base substitution T G intron_variant ESAD-UK 8 67057602 67057602 single base substitution T C intron_variant ESAD-UK 8 67057712 67057712 deletion of <=200bp T - intron_variant ESAD-UK 8 67057844 67057844 single base substitution A T intron_variant ESAD-UK 8 67058842 67058842 single base substitution A G intron_variant ESAD-UK 8 67058941 67058941 single base substitution G T intron_variant ESAD-UK 8 67060133 67060133 single base substitution C T intron_variant ESAD-UK 8 67060133 67060133 single base substitution C T upstream_gene_variant ESAD-UK 8 67060137 67060137 deletion of <=200bp A - intron_variant ESAD-UK 8 67060137 67060137 deletion of <=200bp A - upstream_gene_variant ESAD-UK 8 67060886 67060886 single base substitution A G intron_variant ESAD-UK 8 67060886 67060886 single base substitution A G upstream_gene_variant ESAD-UK 8 67061411 67061411 single base substitution C T intron_variant ESAD-UK 8 67061411 67061411 single base substitution C T upstream_gene_variant ESAD-UK 8 67062390 67062390 single base substitution G T intron_variant ESAD-UK 8 67062390 67062390 single base substitution G T upstream_gene_variant ESAD-UK 8 67063503 67063503 single base substitution A C intron_variant ESAD-UK 8 67063503 67063503 single base substitution A C upstream_gene_variant ESAD-UK 8 67063723 67063723 single base substitution T G intron_variant ESAD-UK 8 67063723 67063723 single base substitution T G upstream_gene_variant ESAD-UK 8 67063741 67063741 single base substitution A T intron_variant ESAD-UK 8 67063741 67063741 single base substitution A T upstream_gene_variant ESAD-UK 8 67063818 67063818 single base substitution C T intron_variant ESAD-UK 8 67063818 67063818 single base substitution C T upstream_gene_variant ESAD-UK 8 67063859 67063859 single base substitution T G intron_variant ESAD-UK 8 67063859 67063859 single base substitution T G upstream_gene_variant ESAD-UK 8 67065795 67065795 single base substitution T C intron_variant ESAD-UK 8 67065808 67065808 single base substitution T G intron_variant ESAD-UK 8 67066643 67066643 single base substitution A C intron_variant ESAD-UK 8 67066772 67066772 single base substitution T A intron_variant ESAD-UK 8 67068441 67068441 single base substitution A T intron_variant ESAD-UK 8 67071682 67071682 single base substitution A T intron_variant ESAD-UK 8 67071949 67071949 single base substitution C G intron_variant ESAD-UK 8 67073159 67073159 single base substitution C A intron_variant ESAD-UK 8 67074856 67074856 single base substitution A T intron_variant ESAD-UK 8 67075118 67075118 single base substitution G C intron_variant ESAD-UK 8 67075310 67075310 single base substitution A G intron_variant ESAD-UK 8 67075446 67075446 insertion of <=200bp - A intron_variant ESAD-UK 8 67075484 67075484 insertion of <=200bp - T intron_variant ESAD-UK 8 67075567 67075567 single base substitution T G intron_variant ESAD-UK 8 67075571 67075571 single base substitution T A intron_variant ESAD-UK 8 67075587 67075587 single base substitution T A intron_variant ESAD-UK 8 67075724 67075724 single base substitution A T intron_variant ESAD-UK 8 67077787 67077787 single base substitution C A intron_variant ESAD-UK 8 67078067 67078067 deletion of <=200bp A - intron_variant ESAD-UK 8 67078202 67078202 single base substitution A G intron_variant ESAD-UK 8 67079559 67079559 single base substitution G C intron_variant ESAD-UK 8 67081144 67081144 single base substitution G A intron_variant ESAD-UK 8 67081368 67081368 insertion of <=200bp - A intron_variant ESAD-UK 8 67081630 67081630 single base substitution A C intron_variant ESAD-UK 8 67082006 67082006 single base substitution C T intron_variant ESAD-UK 8 67082232 67082232 single base substitution A C intron_variant ESAD-UK 8 67083493 67083493 single base substitution C T intron_variant ESAD-UK 8 67084252 67084252 single base substitution G T intron_variant ESAD-UK 8 67084721 67084721 single base substitution T G intron_variant ESAD-UK 8 67085767 67085767 single base substitution T A intron_variant ESAD-UK 8 67086242 67086242 single base substitution T C intron_variant ESAD-UK 8 67086493 67086493 single base substitution C T intron_variant ESAD-UK 8 67087478 67087478 single base substitution C T 3_prime_UTR_variant ESAD-UK 8 67087478 67087478 single base substitution C T downstream_gene_variant ESAD-UK 8 67089076 67089076 insertion of <=200bp - T downstream_gene_variant ESAD-UK 8 67090337 67090337 single base substitution G A downstream_gene_variant ESAD-UK 8 67090366 67090366 single base substitution C T downstream_gene_variant ESAD-UK 8 67091458 67091458 single base substitution T C downstream_gene_variant ESAD-UK 8 67091617 67091617 single base substitution T C downstream_gene_variant ESAD-UK 8 67091762 67091762 single base substitution T C downstream_gene_variant ESAD-UK 8 67091911 67091911 single base substitution G A downstream_gene_variant ESAD-UK 8 67092457 67092457 single base substitution T A downstream_gene_variant ESCA-CN 8 67066427 67066427 single base substitution C A intron_variant ESCA-CN 8 67066427 67066427 single base substitution C A missense_variant P461Q 1382C>A GBM-US 8 67040581 67040581 single base substitution G T missense_variant A71S 211G>T GBM-US 8 67062093 67062093 single base substitution G T intron_variant GBM-US 8 67062093 67062093 single base substitution G T stop_gained E273* 817G>T GBM-US 8 67062093 67062093 single base substitution G T upstream_gene_variant KIRC-US 8 67047249 67047249 single base substitution C A synonymous_variant P122P 366C>A KIRC-US 8 67064733 67064733 single base substitution A C exon_variant KIRC-US 8 67064733 67064733 single base substitution A C intron_variant KIRC-US 8 67064733 67064733 single base substitution A C missense_variant E369D 1107A>C KIRP-US 8 67064722 67064722 deletion of <=200bp T - exon_variant KIRP-US 8 67064722 67064722 deletion of <=200bp T - frameshift_variant F366 KIRP-US 8 67064722 67064722 deletion of <=200bp T - intron_variant LAML-KR 8 67064613 67064613 single base substitution A G exon_variant LAML-KR 8 67064613 67064613 single base substitution A G intron_variant LAML-KR 8 67064613 67064613 single base substitution A G splice_region_variant LGG-US 8 67086746 67086746 single base substitution C T 3_prime_UTR_variant LGG-US 8 67086746 67086746 single base substitution C T exon_variant LGG-US 8 67086746 67086746 single base substitution C T missense_variant A215V 644C>T LGG-US 8 67086746 67086746 single base substitution C T missense_variant A426V 1277C>T LGG-US 8 67086746 67086746 single base substitution C T missense_variant A522V 1565C>T LICA-CN 8 67040552 67040552 single base substitution A T missense_variant Y61F 182A>T LICA-CN 8 67089252 67089252 single base substitution G C downstream_gene_variant LICA-FR 8 67044571 67044571 single base substitution C A intron_variant LICA-FR 8 67049994 67049996 deletion of <=200bp AAA - intron_variant LICA-FR 8 67064827 67064827 single base substitution G T exon_variant LICA-FR 8 67064827 67064827 single base substitution G T intron_variant LICA-FR 8 67064827 67064827 single base substitution G T missense_variant A401S 1201G>T LICA-FR 8 67073152 67073152 single base substitution A G intron_variant LICA-FR 8 67086768 67086768 single base substitution T C 3_prime_UTR_variant LICA-FR 8 67086768 67086768 single base substitution T C exon_variant LICA-FR 8 67086768 67086768 single base substitution T C synonymous_variant A222A 666T>C LICA-FR 8 67086768 67086768 single base substitution T C synonymous_variant A433A 1299T>C LICA-FR 8 67086768 67086768 single base substitution T C synonymous_variant A529A 1587T>C LICA-FR 8 67089299 67089299 single base substitution C T downstream_gene_variant LIHC-US 8 67067941 67067941 single base substitution A C intron_variant LIHC-US 8 67067941 67067941 single base substitution A C missense_variant L536F 1608A>C LINC-JP 8 67039081 67039081 single base substitution G A upstream_gene_variant LINC-JP 8 67040587 67040587 single base substitution G T missense_variant G73W 217G>T LINC-JP 8 67042479 67042479 single base substitution G A intron_variant LINC-JP 8 67051282 67051282 single base substitution A T intron_variant LINC-JP 8 67055818 67055818 deletion of <=200bp T - intron_variant LINC-JP 8 67070219 67070219 single base substitution G A intron_variant LINC-JP 8 67084889 67084889 single base substitution C T intron_variant LINC-JP 8 67086791 67086791 single base substitution T C 3_prime_UTR_variant LINC-JP 8 67086791 67086791 single base substitution T C exon_variant LINC-JP 8 67086791 67086791 single base substitution T C missense_variant I230T 689T>C LINC-JP 8 67086791 67086791 single base substitution T C missense_variant I441T 1322T>C LINC-JP 8 67086791 67086791 single base substitution T C missense_variant I537T 1610T>C LIRI-JP 8 67034848 67034848 single base substitution A G upstream_gene_variant LIRI-JP 8 67038457 67038457 single base substitution C T upstream_gene_variant LIRI-JP 8 67038634 67038634 single base substitution G T upstream_gene_variant LIRI-JP 8 67039388 67039388 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 8 67040239 67040239 single base substitution A G intron_variant LIRI-JP 8 67040248 67040248 single base substitution A C intron_variant LIRI-JP 8 67040637 67040637 single base substitution A G synonymous_variant R89R 267A>G LIRI-JP 8 67042284 67042284 single base substitution A G intron_variant LIRI-JP 8 67042521 67042521 single base substitution T A intron_variant LIRI-JP 8 67044466 67044466 single base substitution A T intron_variant LIRI-JP 8 67047515 67047515 single base substitution A G intron_variant LIRI-JP 8 67050387 67050387 single base substitution A G intron_variant LIRI-JP 8 67051346 67051346 single base substitution A G intron_variant LIRI-JP 8 67053432 67053432 single base substitution T C intron_variant LIRI-JP 8 67054596 67054596 single base substitution A G intron_variant LIRI-JP 8 67058241 67058241 single base substitution C T intron_variant LIRI-JP 8 67058615 67058615 single base substitution A G intron_variant LIRI-JP 8 67059307 67059307 single base substitution G A intron_variant LIRI-JP 8 67060620 67060620 single base substitution A G intron_variant LIRI-JP 8 67060620 67060620 single base substitution A G upstream_gene_variant LIRI-JP 8 67062088 67062088 single base substitution A T intron_variant LIRI-JP 8 67062088 67062088 single base substitution A T missense_variant E271V 812A>T LIRI-JP 8 67062088 67062088 single base substitution A T upstream_gene_variant LIRI-JP 8 67062256 67062256 single base substitution A G intron_variant LIRI-JP 8 67062256 67062256 single base substitution A G upstream_gene_variant LIRI-JP 8 67062701 67062701 single base substitution G A intron_variant LIRI-JP 8 67062701 67062701 single base substitution G A missense_variant E329K 985G>A LIRI-JP 8 67062701 67062701 single base substitution G A upstream_gene_variant LIRI-JP 8 67064450 67064450 single base substitution A C intron_variant LIRI-JP 8 67064450 67064450 single base substitution A C upstream_gene_variant LIRI-JP 8 67064625 67064625 single base substitution A T exon_variant LIRI-JP 8 67064625 67064625 single base substitution A T intron_variant LIRI-JP 8 67064625 67064625 single base substitution A T missense_variant E333D 999A>T LIRI-JP 8 67065375 67065375 single base substitution A G intron_variant LIRI-JP 8 67068002 67068002 single base substitution T C intron_variant LIRI-JP 8 67070458 67070458 single base substitution T G intron_variant LIRI-JP 8 67070858 67070858 single base substitution C G intron_variant LIRI-JP 8 67075204 67075204 single base substitution T C intron_variant LIRI-JP 8 67076465 67076465 single base substitution G A intron_variant LIRI-JP 8 67082067 67082067 single base substitution C T intron_variant LIRI-JP 8 67082926 67082926 single base substitution C G intron_variant LIRI-JP 8 67083409 67083409 single base substitution T G intron_variant LIRI-JP 8 67083854 67083854 single base substitution T C intron_variant LIRI-JP 8 67087730 67087730 single base substitution T C downstream_gene_variant LIRI-JP 8 67087758 67087758 single base substitution A C downstream_gene_variant LIRI-JP 8 67088187 67088187 single base substitution G A downstream_gene_variant LIRI-JP 8 67088659 67088659 single base substitution C T downstream_gene_variant LIRI-JP 8 67090251 67090251 single base substitution G C downstream_gene_variant LIRI-JP 8 67091066 67091066 single base substitution A G downstream_gene_variant LIRI-JP 8 67092541 67092541 single base substitution G T downstream_gene_variant LUSC-KR 8 67035995 67035995 single base substitution A T upstream_gene_variant LUSC-KR 8 67040278 67040278 single base substitution A G intron_variant LUSC-KR 8 67040865 67040865 single base substitution G C intron_variant LUSC-KR 8 67041389 67041389 single base substitution C A intron_variant LUSC-KR 8 67041937 67041937 single base substitution T A intron_variant LUSC-KR 8 67043737 67043737 single base substitution A T intron_variant LUSC-KR 8 67046289 67046289 single base substitution T C intron_variant LUSC-KR 8 67046443 67046443 single base substitution T A intron_variant LUSC-KR 8 67047852 67047852 single base substitution G T intron_variant LUSC-KR 8 67048812 67048812 single base substitution A G intron_variant LUSC-KR 8 67049371 67049371 single base substitution C T synonymous_variant N183N 549C>T LUSC-KR 8 67052495 67052495 single base substitution T A intron_variant LUSC-KR 8 67054494 67054494 single base substitution G C intron_variant LUSC-KR 8 67058730 67058730 single base substitution A G intron_variant LUSC-KR 8 67060063 67060063 single base substitution T G intron_variant LUSC-KR 8 67060063 67060063 single base substitution T G upstream_gene_variant LUSC-KR 8 67061058 67061058 single base substitution C A intron_variant LUSC-KR 8 67061058 67061058 single base substitution C A upstream_gene_variant LUSC-KR 8 67061648 67061648 single base substitution A T intron_variant LUSC-KR 8 67061648 67061648 single base substitution A T upstream_gene_variant LUSC-KR 8 67063511 67063511 single base substitution C A intron_variant LUSC-KR 8 67063511 67063511 single base substitution C A upstream_gene_variant LUSC-KR 8 67063675 67063675 single base substitution G A intron_variant LUSC-KR 8 67063675 67063675 single base substitution G A upstream_gene_variant LUSC-KR 8 67064613 67064613 single base substitution A G exon_variant LUSC-KR 8 67064613 67064613 single base substitution A G intron_variant LUSC-KR 8 67064613 67064613 single base substitution A G splice_region_variant LUSC-KR 8 67065879 67065879 single base substitution G A intron_variant LUSC-KR 8 67069077 67069077 single base substitution T A intron_variant LUSC-KR 8 67069684 67069684 single base substitution A T intron_variant LUSC-KR 8 67069856 67069856 single base substitution C T intron_variant LUSC-KR 8 67071963 67071963 single base substitution C T intron_variant LUSC-KR 8 67077967 67077967 single base substitution C G intron_variant LUSC-KR 8 67079912 67079912 single base substitution C A intron_variant LUSC-KR 8 67081355 67081355 single base substitution C T intron_variant LUSC-KR 8 67082073 67082073 single base substitution T A intron_variant LUSC-KR 8 67084157 67084157 single base substitution C G intron_variant LUSC-KR 8 67088002 67088002 single base substitution G T downstream_gene_variant LUSC-US 8 67040550 67040550 single base substitution G A synonymous_variant P60P 180G>A LUSC-US 8 67040638 67040638 single base substitution C T missense_variant H90Y 268C>T LUSC-US 8 67047300 67047300 single base substitution C T synonymous_variant C139C 417C>T LUSC-US 8 67047317 67047317 single base substitution C A missense_variant S145Y 434C>A LUSC-US 8 67047381 67047381 single base substitution G A synonymous_variant Q166Q 498G>A LUSC-US 8 67064761 67064761 single base substitution C T exon_variant LUSC-US 8 67064761 67064761 single base substitution C T intron_variant LUSC-US 8 67064761 67064761 single base substitution C T missense_variant L379F 1135C>T LUSC-US 8 67064773 67064773 single base substitution G T exon_variant LUSC-US 8 67064773 67064773 single base substitution G T intron_variant LUSC-US 8 67064773 67064773 single base substitution G T stop_gained E383* 1147G>T LUSC-US 8 67064781 67064781 single base substitution G T exon_variant LUSC-US 8 67064781 67064781 single base substitution G T intron_variant LUSC-US 8 67064781 67064781 single base substitution G T missense_variant Q385H 1155G>T MALY-DE 8 67037125 67037125 single base substitution T G upstream_gene_variant MALY-DE 8 67040827 67040827 single base substitution A G intron_variant MALY-DE 8 67047535 67047535 single base substitution T A intron_variant MALY-DE 8 67052493 67052493 single base substitution A T intron_variant MALY-DE 8 67055750 67055750 single base substitution C T intron_variant MALY-DE 8 67057266 67057266 deletion of <=200bp T - intron_variant MALY-DE 8 67060294 67060294 single base substitution G A intron_variant MALY-DE 8 67060294 67060294 single base substitution G A upstream_gene_variant MALY-DE 8 67065575 67065575 single base substitution G A intron_variant MALY-DE 8 67072096 67072096 single base substitution C T intron_variant MALY-DE 8 67072592 67072593 deletion of <=200bp GT - intron_variant MALY-DE 8 67076142 67076144 deletion of <=200bp TTC - intron_variant MALY-DE 8 67076244 67076244 deletion of <=200bp T - intron_variant MALY-DE 8 67077169 67077172 deletion of <=200bp GAAG - intron_variant MALY-DE 8 67079830 67079830 single base substitution C T intron_variant MALY-DE 8 67079911 67079911 single base substitution G T intron_variant MALY-DE 8 67085832 67085836 deletion of <=200bp TTTGC - intron_variant MALY-DE 8 67087022 67087022 single base substitution T C 3_prime_UTR_variant MALY-DE 8 67087022 67087022 single base substitution T C downstream_gene_variant MALY-DE 8 67087022 67087022 single base substitution T C exon_variant MELA-AU 8 67034183 67034183 single base substitution T C upstream_gene_variant MELA-AU 8 67034215 67034215 single base substitution G A upstream_gene_variant MELA-AU 8 67034319 67034319 single base substitution G A upstream_gene_variant MELA-AU 8 67034371 67034371 single base substitution C T upstream_gene_variant MELA-AU 8 67034568 67034569 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 67034601 67034601 single base substitution C T upstream_gene_variant MELA-AU 8 67034614 67034614 single base substitution C T upstream_gene_variant MELA-AU 8 67034615 67034615 single base substitution G A upstream_gene_variant MELA-AU 8 67034818 67034818 single base substitution G A upstream_gene_variant MELA-AU 8 67034825 67034826 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 67034829 67034829 single base substitution T C upstream_gene_variant MELA-AU 8 67034943 67034943 single base substitution G A upstream_gene_variant MELA-AU 8 67035060 67035060 single base substitution G A upstream_gene_variant MELA-AU 8 67035166 67035166 single base substitution G A upstream_gene_variant MELA-AU 8 67035203 67035203 single base substitution C T upstream_gene_variant MELA-AU 8 67035243 67035243 single base substitution C T upstream_gene_variant MELA-AU 8 67035244 67035244 single base substitution C G upstream_gene_variant MELA-AU 8 67035293 67035293 single base substitution G A upstream_gene_variant MELA-AU 8 67035431 67035431 single base substitution C T upstream_gene_variant MELA-AU 8 67035621 67035621 single base substitution C T upstream_gene_variant MELA-AU 8 67035805 67035805 single base substitution G A upstream_gene_variant MELA-AU 8 67036099 67036099 single base substitution G A upstream_gene_variant MELA-AU 8 67036457 67036457 single base substitution T G upstream_gene_variant MELA-AU 8 67036896 67036896 single base substitution G A upstream_gene_variant MELA-AU 8 67036935 67036935 single base substitution C T upstream_gene_variant MELA-AU 8 67037008 67037008 single base substitution G A upstream_gene_variant MELA-AU 8 67037014 67037014 single base substitution C T upstream_gene_variant MELA-AU 8 67037055 67037055 single base substitution G A upstream_gene_variant MELA-AU 8 67037126 67037126 single base substitution C T upstream_gene_variant MELA-AU 8 67037397 67037397 single base substitution C T upstream_gene_variant MELA-AU 8 67037462 67037462 single base substitution C T upstream_gene_variant MELA-AU 8 67037553 67037553 single base substitution C T upstream_gene_variant MELA-AU 8 67038091 67038091 single base substitution T A upstream_gene_variant MELA-AU 8 67038158 67038158 single base substitution C T upstream_gene_variant MELA-AU 8 67038272 67038272 single base substitution C T upstream_gene_variant MELA-AU 8 67038463 67038463 single base substitution G A upstream_gene_variant MELA-AU 8 67038464 67038464 single base substitution G A upstream_gene_variant MELA-AU 8 67038651 67038651 single base substitution G A upstream_gene_variant MELA-AU 8 67038744 67038744 single base substitution G A upstream_gene_variant MELA-AU 8 67038812 67038812 single base substitution T A upstream_gene_variant MELA-AU 8 67038816 67038816 single base substitution C T upstream_gene_variant MELA-AU 8 67039155 67039155 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 8 67039155 67039155 single base substitution C T upstream_gene_variant MELA-AU 8 67039311 67039321 deletion of <=200bp ACCGTCACGTG - 5_prime_UTR_variant MELA-AU 8 67039371 67039371 single base substitution G A 5_prime_UTR_variant MELA-AU 8 67039516 67039516 single base substitution C T synonymous_variant L5L 13C>T MELA-AU 8 67039566 67039566 single base substitution G A synonymous_variant E21E 63G>A MELA-AU 8 67039647 67039647 single base substitution G A synonymous_variant R48R 144G>A MELA-AU 8 67039714 67039714 single base substitution G A intron_variant MELA-AU 8 67039794 67039794 single base substitution G A intron_variant MELA-AU 8 67039837 67039838 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 67039859 67039859 single base substitution C G intron_variant MELA-AU 8 67039993 67039993 single base substitution C T intron_variant MELA-AU 8 67039997 67039997 single base substitution G A intron_variant MELA-AU 8 67040180 67040180 single base substitution G A intron_variant MELA-AU 8 67040514 67040514 single base substitution C T intron_variant MELA-AU 8 67040521 67040521 single base substitution C T intron_variant MELA-AU 8 67040533 67040533 single base substitution G A splice_region_variant MELA-AU 8 67040577 67040577 single base substitution C T synonymous_variant T69T 207C>T MELA-AU 8 67041122 67041122 single base substitution T C intron_variant MELA-AU 8 67041133 67041133 single base substitution G A intron_variant MELA-AU 8 67041237 67041237 single base substitution G A intron_variant MELA-AU 8 67041261 67041261 single base substitution C T intron_variant MELA-AU 8 67041327 67041327 single base substitution C T intron_variant MELA-AU 8 67041476 67041476 single base substitution C T intron_variant MELA-AU 8 67041682 67041682 single base substitution G A intron_variant MELA-AU 8 67041787 67041787 single base substitution T C intron_variant MELA-AU 8 67042501 67042501 single base substitution C T intron_variant MELA-AU 8 67042678 67042678 single base substitution C T intron_variant MELA-AU 8 67042712 67042712 single base substitution G A intron_variant MELA-AU 8 67042792 67042792 single base substitution G A intron_variant MELA-AU 8 67043137 67043137 single base substitution C T intron_variant MELA-AU 8 67043520 67043520 single base substitution C T intron_variant MELA-AU 8 67043780 67043780 single base substitution C T intron_variant MELA-AU 8 67043790 67043790 single base substitution A G intron_variant MELA-AU 8 67044089 67044089 single base substitution C T intron_variant MELA-AU 8 67044258 67044258 single base substitution C T intron_variant MELA-AU 8 67044283 67044283 single base substitution C T intron_variant MELA-AU 8 67044583 67044583 single base substitution G A intron_variant MELA-AU 8 67044631 67044631 single base substitution G A intron_variant MELA-AU 8 67044668 67044668 single base substitution G A intron_variant MELA-AU 8 67044849 67044849 single base substitution C A intron_variant MELA-AU 8 67045071 67045071 single base substitution G A intron_variant MELA-AU 8 67045212 67045212 single base substitution C T intron_variant MELA-AU 8 67045375 67045375 single base substitution G A intron_variant MELA-AU 8 67045449 67045449 single base substitution G A intron_variant MELA-AU 8 67045515 67045515 single base substitution G A intron_variant MELA-AU 8 67045545 67045545 single base substitution C T intron_variant MELA-AU 8 67045665 67045665 single base substitution C T intron_variant MELA-AU 8 67045692 67045692 single base substitution G A intron_variant MELA-AU 8 67045796 67045796 single base substitution G A intron_variant MELA-AU 8 67045830 67045830 single base substitution C T intron_variant MELA-AU 8 67045860 67045860 single base substitution G A intron_variant MELA-AU 8 67046248 67046248 single base substitution C T intron_variant MELA-AU 8 67046344 67046344 single base substitution G A intron_variant MELA-AU 8 67046384 67046384 single base substitution G A intron_variant MELA-AU 8 67046793 67046793 single base substitution G A intron_variant MELA-AU 8 67046841 67046841 single base substitution C T intron_variant MELA-AU 8 67046844 67046844 single base substitution G T intron_variant MELA-AU 8 67046936 67046936 single base substitution G A intron_variant MELA-AU 8 67046974 67046974 single base substitution G A intron_variant MELA-AU 8 67047010 67047010 single base substitution T C intron_variant MELA-AU 8 67047064 67047064 single base substitution G A intron_variant MELA-AU 8 67047126 67047126 single base substitution G A intron_variant MELA-AU 8 67047378 67047378 single base substitution C T synonymous_variant F165F 495C>T MELA-AU 8 67047381 67047381 single base substitution G A synonymous_variant Q166Q 498G>A MELA-AU 8 67047426 67047426 single base substitution C T intron_variant MELA-AU 8 67047432 67047432 single base substitution C T intron_variant MELA-AU 8 67047509 67047509 single base substitution C T intron_variant MELA-AU 8 67047596 67047596 single base substitution G A intron_variant MELA-AU 8 67047606 67047606 single base substitution G A intron_variant MELA-AU 8 67047629 67047629 single base substitution T C intron_variant MELA-AU 8 67047657 67047657 single base substitution C T intron_variant MELA-AU 8 67047672 67047672 single base substitution C T intron_variant MELA-AU 8 67047708 67047708 single base substitution C T intron_variant MELA-AU 8 67047825 67047825 single base substitution T C intron_variant MELA-AU 8 67047979 67047979 single base substitution C T intron_variant MELA-AU 8 67048160 67048160 single base substitution C T intron_variant MELA-AU 8 67048244 67048244 single base substitution C T intron_variant MELA-AU 8 67048270 67048270 single base substitution A T intron_variant MELA-AU 8 67048429 67048429 single base substitution G A intron_variant MELA-AU 8 67048433 67048433 single base substitution G A intron_variant MELA-AU 8 67048482 67048482 single base substitution G T intron_variant MELA-AU 8 67048512 67048512 single base substitution C T intron_variant MELA-AU 8 67048622 67048622 single base substitution C T intron_variant MELA-AU 8 67048746 67048746 single base substitution G A intron_variant MELA-AU 8 67048766 67048766 single base substitution G A intron_variant MELA-AU 8 67049023 67049023 single base substitution C T intron_variant MELA-AU 8 67049158 67049158 single base substitution C T intron_variant MELA-AU 8 67049192 67049192 single base substitution C T intron_variant MELA-AU 8 67049213 67049213 single base substitution C T intron_variant MELA-AU 8 67049289 67049289 single base substitution G A intron_variant MELA-AU 8 67049357 67049357 single base substitution C T missense_variant L179F 535C>T MELA-AU 8 67049385 67049385 single base substitution G A missense_variant G188E 563G>A MELA-AU 8 67049456 67049456 single base substitution C T intron_variant MELA-AU 8 67049692 67049692 single base substitution G A intron_variant MELA-AU 8 67049756 67049756 single base substitution A T intron_variant MELA-AU 8 67049847 67049847 single base substitution G A intron_variant MELA-AU 8 67049860 67049860 single base substitution G A intron_variant MELA-AU 8 67049974 67049974 single base substitution C T intron_variant MELA-AU 8 67050097 67050098 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 67050123 67050123 single base substitution C T intron_variant MELA-AU 8 67050136 67050136 single base substitution C T intron_variant MELA-AU 8 67050219 67050219 single base substitution C T intron_variant MELA-AU 8 67050243 67050243 single base substitution G A intron_variant MELA-AU 8 67050301 67050301 single base substitution C T intron_variant MELA-AU 8 67050434 67050434 single base substitution C T intron_variant MELA-AU 8 67050580 67050580 single base substitution C T intron_variant MELA-AU 8 67050673 67050673 single base substitution G A intron_variant MELA-AU 8 67050706 67050706 single base substitution C T intron_variant MELA-AU 8 67050810 67050810 single base substitution G A intron_variant MELA-AU 8 67050845 67050845 single base substitution C T intron_variant MELA-AU 8 67050962 67050962 single base substitution G A intron_variant MELA-AU 8 67051232 67051232 single base substitution C T intron_variant MELA-AU 8 67051255 67051255 single base substitution C T intron_variant MELA-AU 8 67051280 67051280 single base substitution G A intron_variant MELA-AU 8 67051297 67051297 single base substitution G A intron_variant MELA-AU 8 67051304 67051304 single base substitution T A intron_variant MELA-AU 8 67051309 67051309 single base substitution T A intron_variant MELA-AU 8 67051522 67051522 single base substitution G A intron_variant MELA-AU 8 67051628 67051628 single base substitution G A intron_variant MELA-AU 8 67051678 67051678 single base substitution G A intron_variant MELA-AU 8 67051726 67051726 single base substitution G A intron_variant MELA-AU 8 67052009 67052009 single base substitution C T intron_variant MELA-AU 8 67052027 67052027 single base substitution C T intron_variant MELA-AU 8 67052047 67052047 single base substitution G A intron_variant MELA-AU 8 67052145 67052145 single base substitution G A intron_variant MELA-AU 8 67052262 67052262 single base substitution C T intron_variant MELA-AU 8 67052702 67052702 single base substitution A G intron_variant MELA-AU 8 67052744 67052744 single base substitution C T intron_variant MELA-AU 8 67052745 67052745 single base substitution C T intron_variant MELA-AU 8 67052777 67052777 single base substitution C T intron_variant MELA-AU 8 67052826 67052826 single base substitution G A intron_variant MELA-AU 8 67052895 67052895 single base substitution C T intron_variant MELA-AU 8 67053034 67053034 single base substitution C T intron_variant MELA-AU 8 67053035 67053035 single base substitution C T intron_variant MELA-AU 8 67053076 67053076 single base substitution G A intron_variant MELA-AU 8 67053092 67053092 single base substitution C T intron_variant MELA-AU 8 67053152 67053152 single base substitution C T intron_variant MELA-AU 8 67053159 67053159 single base substitution G A intron_variant MELA-AU 8 67053169 67053169 single base substitution G A intron_variant MELA-AU 8 67053179 67053179 single base substitution C T intron_variant MELA-AU 8 67053200 67053200 single base substitution C T intron_variant MELA-AU 8 67053314 67053314 single base substitution G A intron_variant MELA-AU 8 67053325 67053325 single base substitution G A intron_variant MELA-AU 8 67053339 67053339 single base substitution C T intron_variant MELA-AU 8 67053496 67053496 single base substitution G A intron_variant MELA-AU 8 67053509 67053509 single base substitution C T intron_variant MELA-AU 8 67053513 67053513 single base substitution C T intron_variant MELA-AU 8 67053533 67053533 single base substitution G A intron_variant MELA-AU 8 67053565 67053565 single base substitution G A intron_variant MELA-AU 8 67053594 67053594 single base substitution T C intron_variant MELA-AU 8 67053701 67053701 single base substitution A T intron_variant MELA-AU 8 67053952 67053952 single base substitution G A intron_variant MELA-AU 8 67053982 67053982 single base substitution G A intron_variant MELA-AU 8 67054059 67054059 single base substitution C T intron_variant MELA-AU 8 67054132 67054132 single base substitution C G intron_variant MELA-AU 8 67054315 67054315 single base substitution G A intron_variant MELA-AU 8 67054349 67054349 single base substitution T G intron_variant MELA-AU 8 67054353 67054353 single base substitution G A intron_variant MELA-AU 8 67054451 67054451 single base substitution C T intron_variant MELA-AU 8 67054591 67054591 single base substitution C T intron_variant MELA-AU 8 67054641 67054641 single base substitution G A intron_variant MELA-AU 8 67054848 67054848 single base substitution C T intron_variant MELA-AU 8 67054871 67054871 single base substitution C T intron_variant MELA-AU 8 67054904 67054904 single base substitution G A intron_variant MELA-AU 8 67054917 67054917 single base substitution G A intron_variant MELA-AU 8 67055109 67055109 single base substitution C T intron_variant MELA-AU 8 67055128 67055128 single base substitution G A intron_variant MELA-AU 8 67055137 67055137 single base substitution G A intron_variant MELA-AU 8 67055279 67055279 single base substitution G A intron_variant MELA-AU 8 67055338 67055338 single base substitution A T intron_variant MELA-AU 8 67055608 67055608 single base substitution G A intron_variant MELA-AU 8 67055646 67055646 single base substitution C T intron_variant MELA-AU 8 67055655 67055655 single base substitution C T intron_variant MELA-AU 8 67055714 67055714 single base substitution C T intron_variant MELA-AU 8 67055830 67055830 single base substitution T A intron_variant MELA-AU 8 67055879 67055879 single base substitution C T intron_variant MELA-AU 8 67055958 67055958 single base substitution C T intron_variant MELA-AU 8 67055989 67055989 single base substitution G A intron_variant MELA-AU 8 67056147 67056147 single base substitution G A intron_variant MELA-AU 8 67056239 67056239 single base substitution C T intron_variant MELA-AU 8 67056262 67056262 single base substitution G A intron_variant MELA-AU 8 67056463 67056463 single base substitution G A intron_variant MELA-AU 8 67056518 67056518 single base substitution C T intron_variant MELA-AU 8 67056530 67056530 single base substitution G A intron_variant MELA-AU 8 67056555 67056555 single base substitution C T intron_variant MELA-AU 8 67056589 67056589 single base substitution C T intron_variant MELA-AU 8 67056594 67056594 single base substitution G A intron_variant MELA-AU 8 67056694 67056694 single base substitution G A intron_variant MELA-AU 8 67056699 67056699 single base substitution C T intron_variant MELA-AU 8 67056728 67056728 single base substitution A C intron_variant MELA-AU 8 67056755 67056755 single base substitution C T intron_variant MELA-AU 8 67056777 67056777 single base substitution C T intron_variant MELA-AU 8 67056841 67056841 single base substitution G A intron_variant MELA-AU 8 67056963 67056963 single base substitution C T intron_variant MELA-AU 8 67057003 67057003 single base substitution G A intron_variant MELA-AU 8 67057060 67057060 single base substitution C T intron_variant MELA-AU 8 67057114 67057114 single base substitution C T intron_variant MELA-AU 8 67057340 67057340 single base substitution C T intron_variant MELA-AU 8 67057388 67057388 single base substitution G A intron_variant MELA-AU 8 67057417 67057417 single base substitution G A intron_variant MELA-AU 8 67057447 67057447 single base substitution G A intron_variant MELA-AU 8 67057454 67057454 single base substitution C T intron_variant MELA-AU 8 67057493 67057493 single base substitution T G intron_variant MELA-AU 8 67057537 67057537 single base substitution C T intron_variant MELA-AU 8 67057543 67057543 single base substitution C T intron_variant MELA-AU 8 67057663 67057663 single base substitution C T intron_variant MELA-AU 8 67057669 67057669 single base substitution G A intron_variant MELA-AU 8 67057743 67057743 single base substitution G A intron_variant MELA-AU 8 67057767 67057767 single base substitution C T intron_variant MELA-AU 8 67057855 67057855 single base substitution C T intron_variant MELA-AU 8 67057959 67057959 single base substitution G A intron_variant MELA-AU 8 67058068 67058068 single base substitution C T intron_variant MELA-AU 8 67058330 67058330 single base substitution G A intron_variant MELA-AU 8 67058461 67058461 single base substitution C T intron_variant MELA-AU 8 67058533 67058533 single base substitution A G intron_variant MELA-AU 8 67058576 67058576 single base substitution G A intron_variant MELA-AU 8 67058741 67058741 single base substitution C T intron_variant MELA-AU 8 67058748 67058748 single base substitution G A intron_variant MELA-AU 8 67058937 67058937 single base substitution G A intron_variant MELA-AU 8 67058939 67058939 single base substitution T C intron_variant MELA-AU 8 67059055 67059055 single base substitution G A intron_variant MELA-AU 8 67059080 67059080 single base substitution C T intron_variant MELA-AU 8 67059161 67059161 single base substitution A G intron_variant MELA-AU 8 67059197 67059197 single base substitution C T intron_variant MELA-AU 8 67059240 67059240 single base substitution C T intron_variant MELA-AU 8 67059258 67059258 single base substitution C T intron_variant MELA-AU 8 67059259 67059259 single base substitution C T intron_variant MELA-AU 8 67059262 67059262 single base substitution C T intron_variant MELA-AU 8 67059279 67059280 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 67059324 67059324 single base substitution C T intron_variant MELA-AU 8 67059357 67059357 single base substitution G A intron_variant MELA-AU 8 67059414 67059414 single base substitution G A intron_variant MELA-AU 8 67059482 67059482 single base substitution C T intron_variant MELA-AU 8 67059497 67059497 single base substitution G A intron_variant MELA-AU 8 67059697 67059697 single base substitution G A intron_variant MELA-AU 8 67059697 67059697 single base substitution G A upstream_gene_variant MELA-AU 8 67059707 67059707 single base substitution G A intron_variant MELA-AU 8 67059707 67059707 single base substitution G A upstream_gene_variant MELA-AU 8 67059723 67059723 single base substitution G A intron_variant MELA-AU 8 67059723 67059723 single base substitution G A upstream_gene_variant MELA-AU 8 67059744 67059744 single base substitution C T intron_variant MELA-AU 8 67059744 67059744 single base substitution C T upstream_gene_variant MELA-AU 8 67059804 67059804 single base substitution G A intron_variant MELA-AU 8 67059804 67059804 single base substitution G A upstream_gene_variant MELA-AU 8 67059857 67059857 single base substitution C T intron_variant MELA-AU 8 67059857 67059857 single base substitution C T upstream_gene_variant MELA-AU 8 67059912 67059912 single base substitution C T intron_variant MELA-AU 8 67059912 67059912 single base substitution C T upstream_gene_variant MELA-AU 8 67060013 67060013 single base substitution G A intron_variant MELA-AU 8 67060013 67060013 single base substitution G A upstream_gene_variant MELA-AU 8 67060050 67060050 single base substitution A G intron_variant MELA-AU 8 67060050 67060050 single base substitution A G upstream_gene_variant MELA-AU 8 67060112 67060112 single base substitution C T intron_variant MELA-AU 8 67060112 67060112 single base substitution C T upstream_gene_variant MELA-AU 8 67060286 67060286 single base substitution C T intron_variant MELA-AU 8 67060286 67060286 single base substitution C T upstream_gene_variant MELA-AU 8 67060365 67060365 single base substitution G A intron_variant MELA-AU 8 67060365 67060365 single base substitution G A upstream_gene_variant MELA-AU 8 67060454 67060454 single base substitution G A intron_variant MELA-AU 8 67060454 67060454 single base substitution G A upstream_gene_variant MELA-AU 8 67060500 67060500 single base substitution G A intron_variant MELA-AU 8 67060500 67060500 single base substitution G A upstream_gene_variant MELA-AU 8 67060635 67060635 single base substitution G A intron_variant MELA-AU 8 67060635 67060635 single base substitution G A upstream_gene_variant MELA-AU 8 67060722 67060722 single base substitution G A intron_variant MELA-AU 8 67060722 67060722 single base substitution G A upstream_gene_variant MELA-AU 8 67060972 67060972 single base substitution G A intron_variant MELA-AU 8 67060972 67060972 single base substitution G A upstream_gene_variant MELA-AU 8 67060974 67060974 single base substitution G A intron_variant MELA-AU 8 67060974 67060974 single base substitution G A upstream_gene_variant MELA-AU 8 67061238 67061238 single base substitution C T intron_variant MELA-AU 8 67061238 67061238 single base substitution C T upstream_gene_variant MELA-AU 8 67061334 67061334 single base substitution G A intron_variant MELA-AU 8 67061334 67061334 single base substitution G A upstream_gene_variant MELA-AU 8 67061449 67061449 single base substitution G A intron_variant MELA-AU 8 67061449 67061449 single base substitution G A upstream_gene_variant MELA-AU 8 67061486 67061486 single base substitution G A intron_variant MELA-AU 8 67061486 67061486 single base substitution G A upstream_gene_variant MELA-AU 8 67061597 67061597 single base substitution A G intron_variant MELA-AU 8 67061597 67061597 single base substitution A G upstream_gene_variant MELA-AU 8 67061778 67061778 single base substitution T G intron_variant MELA-AU 8 67061778 67061778 single base substitution T G upstream_gene_variant MELA-AU 8 67061779 67061779 single base substitution C T intron_variant MELA-AU 8 67061779 67061779 single base substitution C T upstream_gene_variant MELA-AU 8 67061867 67061867 single base substitution A G intron_variant MELA-AU 8 67061867 67061867 single base substitution A G upstream_gene_variant MELA-AU 8 67062084 67062084 single base substitution G A intron_variant MELA-AU 8 67062084 67062084 single base substitution G A missense_variant D270N 808G>A MELA-AU 8 67062084 67062084 single base substitution G A upstream_gene_variant MELA-AU 8 67062162 67062162 single base substitution G A intron_variant MELA-AU 8 67062162 67062162 single base substitution G A upstream_gene_variant MELA-AU 8 67062328 67062328 single base substitution A G intron_variant MELA-AU 8 67062328 67062328 single base substitution A G upstream_gene_variant MELA-AU 8 67062470 67062470 single base substitution A T intron_variant MELA-AU 8 67062470 67062470 single base substitution A T stop_gained K286* 856A>T MELA-AU 8 67062470 67062470 single base substitution A T upstream_gene_variant MELA-AU 8 67062475 67062475 single base substitution G A intron_variant MELA-AU 8 67062475 67062475 single base substitution G A splice_donor_variant MELA-AU 8 67062475 67062475 single base substitution G A upstream_gene_variant MELA-AU 8 67062480 67062480 single base substitution A G intron_variant MELA-AU 8 67062480 67062480 single base substitution A G splice_region_variant MELA-AU 8 67062480 67062480 single base substitution A G upstream_gene_variant MELA-AU 8 67062595 67062595 single base substitution G A intron_variant MELA-AU 8 67062595 67062595 single base substitution G A synonymous_variant K293K 879G>A MELA-AU 8 67062595 67062595 single base substitution G A upstream_gene_variant MELA-AU 8 67062607 67062607 single base substitution G A intron_variant MELA-AU 8 67062607 67062607 single base substitution G A missense_variant M297I 891G>A MELA-AU 8 67062607 67062607 single base substitution G A upstream_gene_variant MELA-AU 8 67062701 67062701 single base substitution G A intron_variant MELA-AU 8 67062701 67062701 single base substitution G A missense_variant E329K 985G>A MELA-AU 8 67062701 67062701 single base substitution G A upstream_gene_variant MELA-AU 8 67062714 67062714 single base substitution T A intron_variant MELA-AU 8 67062714 67062714 single base substitution T A upstream_gene_variant MELA-AU 8 67062772 67062772 single base substitution G A intron_variant MELA-AU 8 67062772 67062772 single base substitution G A upstream_gene_variant MELA-AU 8 67062832 67062832 single base substitution C T intron_variant MELA-AU 8 67062832 67062832 single base substitution C T upstream_gene_variant MELA-AU 8 67063255 67063255 single base substitution C T intron_variant MELA-AU 8 67063255 67063255 single base substitution C T upstream_gene_variant MELA-AU 8 67063456 67063456 single base substitution G A intron_variant MELA-AU 8 67063456 67063456 single base substitution G A upstream_gene_variant MELA-AU 8 67063645 67063645 single base substitution C T intron_variant MELA-AU 8 67063645 67063645 single base substitution C T upstream_gene_variant MELA-AU 8 67063741 67063741 single base substitution A T intron_variant MELA-AU 8 67063741 67063741 single base substitution A T upstream_gene_variant MELA-AU 8 67063784 67063784 single base substitution G A intron_variant MELA-AU 8 67063784 67063784 single base substitution G A upstream_gene_variant MELA-AU 8 67064460 67064460 single base substitution C T intron_variant MELA-AU 8 67064460 67064460 single base substitution C T upstream_gene_variant MELA-AU 8 67064502 67064502 single base substitution G A intron_variant MELA-AU 8 67064502 67064502 single base substitution G A upstream_gene_variant MELA-AU 8 67064641 67064641 single base substitution G A exon_variant MELA-AU 8 67064641 67064641 single base substitution G A intron_variant MELA-AU 8 67064641 67064641 single base substitution G A missense_variant G339R 1015G>A MELA-AU 8 67064807 67064807 single base substitution C T exon_variant MELA-AU 8 67064807 67064807 single base substitution C T intron_variant MELA-AU 8 67064807 67064807 single base substitution C T missense_variant S394F 1181C>T MELA-AU 8 67064824 67064824 single base substitution C T exon_variant MELA-AU 8 67064824 67064824 single base substitution C T intron_variant MELA-AU 8 67064824 67064824 single base substitution C T missense_variant P400S 1198C>T MELA-AU 8 67064845 67064845 single base substitution G A exon_variant MELA-AU 8 67064845 67064845 single base substitution G A intron_variant MELA-AU 8 67064845 67064845 single base substitution G A missense_variant D407N 1219G>A MELA-AU 8 67064879 67064879 single base substitution C T intron_variant MELA-AU 8 67064915 67064915 single base substitution G A intron_variant MELA-AU 8 67065134 67065134 single base substitution G A intron_variant MELA-AU 8 67065222 67065222 single base substitution C T intron_variant MELA-AU 8 67065288 67065288 single base substitution A C intron_variant MELA-AU 8 67065328 67065328 single base substitution G A intron_variant MELA-AU 8 67065390 67065390 single base substitution C T intron_variant MELA-AU 8 67065427 67065427 single base substitution C T intron_variant MELA-AU 8 67065579 67065579 single base substitution C T intron_variant MELA-AU 8 67066115 67066115 single base substitution C T intron_variant MELA-AU 8 67066341 67066341 single base substitution A T intron_variant MELA-AU 8 67066341 67066341 single base substitution A T synonymous_variant A432A 1296A>T MELA-AU 8 67066357 67066357 single base substitution G A intron_variant MELA-AU 8 67066357 67066357 single base substitution G A missense_variant D438N 1312G>A MELA-AU 8 67066395 67066395 single base substitution C T intron_variant MELA-AU 8 67066395 67066395 single base substitution C T synonymous_variant T450T 1350C>T MELA-AU 8 67066476 67066476 single base substitution G A intron_variant MELA-AU 8 67066476 67066476 single base substitution G A synonymous_variant S477S 1431G>A MELA-AU 8 67066485 67066485 single base substitution G A intron_variant MELA-AU 8 67066485 67066485 single base substitution G A synonymous_variant R480R 1440G>A MELA-AU 8 67066539 67066540 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 67066539 67066540 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant KE498KK MELA-AU 8 67066567 67066567 single base substitution C T intron_variant MELA-AU 8 67066567 67066567 single base substitution C T stop_gained Q508* 1522C>T MELA-AU 8 67066601 67066601 single base substitution C T intron_variant MELA-AU 8 67066630 67066630 single base substitution G A intron_variant MELA-AU 8 67066697 67066697 single base substitution G A intron_variant MELA-AU 8 67066820 67066820 single base substitution G A intron_variant MELA-AU 8 67066934 67066934 single base substitution C T intron_variant MELA-AU 8 67067106 67067106 single base substitution C T intron_variant MELA-AU 8 67067186 67067186 single base substitution C T intron_variant MELA-AU 8 67067286 67067286 single base substitution C T intron_variant MELA-AU 8 67067292 67067292 single base substitution G A intron_variant MELA-AU 8 67067313 67067313 single base substitution C T intron_variant MELA-AU 8 67067532 67067532 single base substitution G A intron_variant MELA-AU 8 67067574 67067574 single base substitution C T intron_variant MELA-AU 8 67067781 67067781 single base substitution G A intron_variant MELA-AU 8 67067840 67067840 single base substitution C T intron_variant MELA-AU 8 67067965 67067965 single base substitution C T intron_variant MELA-AU 8 67068018 67068018 single base substitution C T intron_variant MELA-AU 8 67068019 67068019 single base substitution C T intron_variant MELA-AU 8 67068023 67068023 single base substitution G C intron_variant MELA-AU 8 67068035 67068035 single base substitution C T intron_variant MELA-AU 8 67068055 67068055 single base substitution C T intron_variant MELA-AU 8 67068175 67068175 single base substitution C T intron_variant MELA-AU 8 67068396 67068396 single base substitution G A intron_variant MELA-AU 8 67068495 67068495 single base substitution C T intron_variant MELA-AU 8 67068517 67068517 single base substitution G A intron_variant MELA-AU 8 67068635 67068635 single base substitution A G intron_variant MELA-AU 8 67068748 67068748 single base substitution C T intron_variant MELA-AU 8 67068758 67068758 single base substitution C T intron_variant MELA-AU 8 67068933 67068933 single base substitution C T intron_variant MELA-AU 8 67068936 67068936 single base substitution G A intron_variant MELA-AU 8 67068956 67068956 single base substitution G A intron_variant MELA-AU 8 67069018 67069018 single base substitution C T intron_variant MELA-AU 8 67069019 67069019 single base substitution C T intron_variant MELA-AU 8 67069087 67069087 single base substitution G A intron_variant MELA-AU 8 67069437 67069437 single base substitution G A intron_variant MELA-AU 8 67069487 67069487 single base substitution C T intron_variant MELA-AU 8 67069542 67069542 single base substitution C T intron_variant MELA-AU 8 67069641 67069641 single base substitution C T intron_variant MELA-AU 8 67069746 67069746 single base substitution C T intron_variant MELA-AU 8 67069753 67069753 single base substitution C T intron_variant MELA-AU 8 67069994 67069994 single base substitution G A intron_variant MELA-AU 8 67070018 67070018 single base substitution C T intron_variant MELA-AU 8 67070137 67070137 single base substitution G A intron_variant MELA-AU 8 67070158 67070158 single base substitution C T intron_variant MELA-AU 8 67070192 67070192 single base substitution C T intron_variant MELA-AU 8 67070229 67070229 single base substitution C T intron_variant MELA-AU 8 67070250 67070250 single base substitution C A intron_variant MELA-AU 8 67070270 67070270 single base substitution C T intron_variant MELA-AU 8 67070286 67070286 single base substitution G A intron_variant MELA-AU 8 67070469 67070469 single base substitution G A intron_variant MELA-AU 8 67070499 67070499 single base substitution C T intron_variant MELA-AU 8 67070529 67070529 single base substitution C T intron_variant MELA-AU 8 67070685 67070685 single base substitution G A intron_variant MELA-AU 8 67070811 67070811 single base substitution A G intron_variant MELA-AU 8 67070813 67070813 single base substitution G A intron_variant MELA-AU 8 67070832 67070832 single base substitution C T intron_variant MELA-AU 8 67070862 67070862 single base substitution G A intron_variant MELA-AU 8 67070985 67070985 single base substitution C T intron_variant MELA-AU 8 67071011 67071011 single base substitution C T intron_variant MELA-AU 8 67071032 67071032 single base substitution C T intron_variant MELA-AU 8 67071045 67071045 single base substitution C T intron_variant MELA-AU 8 67071249 67071268 deletion of <=200bp ATGTGATTTTTTAAATCAAC - intron_variant MELA-AU 8 67071401 67071401 single base substitution C T intron_variant MELA-AU 8 67071427 67071427 single base substitution C T intron_variant MELA-AU 8 67071439 67071439 single base substitution C T intron_variant MELA-AU 8 67071554 67071554 single base substitution A C intron_variant MELA-AU 8 67071873 67071873 single base substitution C T intron_variant MELA-AU 8 67071907 67071907 single base substitution C T intron_variant MELA-AU 8 67072109 67072109 single base substitution A G intron_variant MELA-AU 8 67072146 67072146 single base substitution T G intron_variant MELA-AU 8 67072167 67072167 single base substitution C T intron_variant MELA-AU 8 67072295 67072295 single base substitution A G intron_variant MELA-AU 8 67072370 67072370 single base substitution C T intron_variant MELA-AU 8 67072411 67072411 single base substitution C T intron_variant MELA-AU 8 67072438 67072438 single base substitution C T intron_variant MELA-AU 8 67072500 67072500 single base substitution T C intron_variant MELA-AU 8 67072525 67072525 single base substitution C T intron_variant MELA-AU 8 67072551 67072551 single base substitution C T intron_variant MELA-AU 8 67072654 67072654 single base substitution G A intron_variant MELA-AU 8 67072716 67072716 single base substitution G A intron_variant MELA-AU 8 67072725 67072725 single base substitution G T intron_variant MELA-AU 8 67072757 67072757 single base substitution C T intron_variant MELA-AU 8 67072868 67072868 single base substitution C T intron_variant MELA-AU 8 67072992 67072992 single base substitution C T intron_variant MELA-AU 8 67073082 67073082 single base substitution C T intron_variant MELA-AU 8 67073223 67073223 single base substitution G A intron_variant MELA-AU 8 67073312 67073312 single base substitution G A intron_variant MELA-AU 8 67073376 67073376 single base substitution T C intron_variant MELA-AU 8 67073526 67073526 single base substitution C T intron_variant MELA-AU 8 67073589 67073589 single base substitution C T intron_variant MELA-AU 8 67073603 67073603 single base substitution C T intron_variant MELA-AU 8 67073642 67073642 single base substitution C T intron_variant MELA-AU 8 67073646 67073646 single base substitution C T intron_variant MELA-AU 8 67073651 67073651 single base substitution T C intron_variant MELA-AU 8 67073713 67073713 single base substitution C T intron_variant MELA-AU 8 67073765 67073765 single base substitution G A intron_variant MELA-AU 8 67073777 67073777 single base substitution C T intron_variant MELA-AU 8 67073864 67073864 single base substitution A C intron_variant MELA-AU 8 67073924 67073924 single base substitution T G intron_variant MELA-AU 8 67074066 67074066 single base substitution T A intron_variant MELA-AU 8 67074129 67074129 single base substitution C T intron_variant MELA-AU 8 67074166 67074166 single base substitution G A intron_variant MELA-AU 8 67074167 67074167 single base substitution G A intron_variant MELA-AU 8 67074274 67074274 single base substitution G A intron_variant MELA-AU 8 67074318 67074318 single base substitution C T intron_variant MELA-AU 8 67074340 67074340 single base substitution G A intron_variant MELA-AU 8 67074354 67074354 single base substitution A G intron_variant MELA-AU 8 67074406 67074406 single base substitution T C intron_variant MELA-AU 8 67074425 67074425 single base substitution C T intron_variant MELA-AU 8 67074458 67074458 single base substitution C T intron_variant MELA-AU 8 67074499 67074499 single base substitution C T intron_variant MELA-AU 8 67074534 67074534 single base substitution C T intron_variant MELA-AU 8 67074781 67074781 single base substitution G A intron_variant MELA-AU 8 67074922 67074922 single base substitution C T intron_variant MELA-AU 8 67075029 67075029 single base substitution C T intron_variant MELA-AU 8 67075042 67075042 single base substitution C T intron_variant MELA-AU 8 67075128 67075128 single base substitution C T intron_variant MELA-AU 8 67075160 67075160 single base substitution G A intron_variant MELA-AU 8 67075180 67075180 single base substitution T A intron_variant MELA-AU 8 67075191 67075191 single base substitution G A intron_variant MELA-AU 8 67075197 67075197 single base substitution C T intron_variant MELA-AU 8 67075230 67075230 single base substitution C T intron_variant MELA-AU 8 67075323 67075323 single base substitution G A intron_variant MELA-AU 8 67075358 67075358 single base substitution G T intron_variant MELA-AU 8 67075417 67075417 single base substitution C T intron_variant MELA-AU 8 67075452 67075452 single base substitution A T intron_variant MELA-AU 8 67075501 67075501 single base substitution C T intron_variant MELA-AU 8 67075536 67075536 single base substitution C T intron_variant MELA-AU 8 67075681 67075681 single base substitution C T intron_variant MELA-AU 8 67075791 67075791 single base substitution C T intron_variant MELA-AU 8 67075848 67075848 single base substitution C T intron_variant MELA-AU 8 67075891 67075891 single base substitution C T intron_variant MELA-AU 8 67075942 67075942 single base substitution G A intron_variant MELA-AU 8 67075996 67075996 single base substitution A T intron_variant MELA-AU 8 67076154 67076154 single base substitution C T intron_variant MELA-AU 8 67076195 67076195 single base substitution C T intron_variant MELA-AU 8 67076255 67076255 single base substitution T C intron_variant MELA-AU 8 67076259 67076259 single base substitution G A intron_variant MELA-AU 8 67076279 67076279 single base substitution C T intron_variant MELA-AU 8 67076383 67076383 single base substitution G A intron_variant MELA-AU 8 67076384 67076384 single base substitution G A intron_variant MELA-AU 8 67076618 67076618 single base substitution C T intron_variant MELA-AU 8 67076732 67076732 single base substitution G A intron_variant MELA-AU 8 67076783 67076783 single base substitution G A intron_variant MELA-AU 8 67076943 67076943 single base substitution G A intron_variant MELA-AU 8 67076952 67076952 single base substitution G A intron_variant MELA-AU 8 67077127 67077127 single base substitution G A intron_variant MELA-AU 8 67077132 67077132 single base substitution G A intron_variant MELA-AU 8 67077136 67077136 single base substitution A T intron_variant MELA-AU 8 67077149 67077149 single base substitution G A intron_variant MELA-AU 8 67077165 67077165 single base substitution G A intron_variant MELA-AU 8 67077189 67077189 single base substitution G A intron_variant MELA-AU 8 67077239 67077239 single base substitution G A intron_variant MELA-AU 8 67077255 67077255 single base substitution G A intron_variant MELA-AU 8 67077264 67077264 single base substitution G A intron_variant MELA-AU 8 67077284 67077284 single base substitution C T intron_variant MELA-AU 8 67077299 67077299 single base substitution G A intron_variant MELA-AU 8 67077309 67077309 single base substitution C T intron_variant MELA-AU 8 67077366 67077366 single base substitution A T intron_variant MELA-AU 8 67077399 67077399 single base substitution C T intron_variant MELA-AU 8 67077434 67077434 single base substitution G A intron_variant MELA-AU 8 67077534 67077534 single base substitution C T intron_variant MELA-AU 8 67077628 67077628 single base substitution G A intron_variant MELA-AU 8 67077747 67077747 single base substitution C T intron_variant MELA-AU 8 67077759 67077759 single base substitution G A intron_variant MELA-AU 8 67077802 67077802 single base substitution G A intron_variant MELA-AU 8 67077826 67077826 single base substitution C T intron_variant MELA-AU 8 67077837 67077837 single base substitution C T intron_variant MELA-AU 8 67077933 67077933 single base substitution A G intron_variant MELA-AU 8 67077947 67077947 single base substitution G A intron_variant MELA-AU 8 67077961 67077961 single base substitution C T intron_variant MELA-AU 8 67078015 67078015 single base substitution C T intron_variant MELA-AU 8 67078019 67078019 single base substitution G A intron_variant MELA-AU 8 67078043 67078043 single base substitution G A intron_variant MELA-AU 8 67078199 67078199 single base substitution C T intron_variant MELA-AU 8 67078215 67078215 single base substitution C T intron_variant MELA-AU 8 67078235 67078235 single base substitution G A intron_variant MELA-AU 8 67078408 67078408 single base substitution C T intron_variant MELA-AU 8 67078583 67078583 single base substitution C T intron_variant MELA-AU 8 67078683 67078683 single base substitution G A intron_variant MELA-AU 8 67078691 67078691 single base substitution C T intron_variant MELA-AU 8 67078695 67078695 single base substitution C T intron_variant MELA-AU 8 67078733 67078733 single base substitution C T intron_variant MELA-AU 8 67078753 67078753 single base substitution G A intron_variant MELA-AU 8 67078846 67078846 single base substitution C T intron_variant MELA-AU 8 67078884 67078884 single base substitution C T intron_variant MELA-AU 8 67079092 67079092 single base substitution C T intron_variant MELA-AU 8 67079099 67079099 single base substitution G A intron_variant MELA-AU 8 67079528 67079528 single base substitution C T intron_variant MELA-AU 8 67079541 67079541 single base substitution G A intron_variant MELA-AU 8 67079565 67079565 single base substitution G A intron_variant MELA-AU 8 67079702 67079702 single base substitution G A intron_variant MELA-AU 8 67079739 67079739 single base substitution C T intron_variant MELA-AU 8 67079750 67079750 single base substitution C T intron_variant MELA-AU 8 67079851 67079851 single base substitution G A intron_variant MELA-AU 8 67079852 67079852 single base substitution G A intron_variant MELA-AU 8 67079972 67079972 single base substitution C T intron_variant MELA-AU 8 67079974 67079974 single base substitution C T intron_variant MELA-AU 8 67080142 67080142 single base substitution C T intron_variant MELA-AU 8 67080229 67080229 single base substitution C G intron_variant MELA-AU 8 67080311 67080311 single base substitution C T intron_variant MELA-AU 8 67080349 67080349 single base substitution C T intron_variant MELA-AU 8 67080352 67080352 single base substitution C T intron_variant MELA-AU 8 67080440 67080440 single base substitution G A intron_variant MELA-AU 8 67080638 67080638 single base substitution G A intron_variant MELA-AU 8 67080952 67080953 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 67080975 67080975 single base substitution G A intron_variant MELA-AU 8 67081004 67081004 single base substitution G A intron_variant MELA-AU 8 67081014 67081014 single base substitution C T intron_variant MELA-AU 8 67081032 67081032 single base substitution C T intron_variant MELA-AU 8 67081051 67081051 single base substitution C T intron_variant MELA-AU 8 67081065 67081065 single base substitution G A intron_variant MELA-AU 8 67081108 67081108 single base substitution G A intron_variant MELA-AU 8 67081124 67081124 single base substitution C T intron_variant MELA-AU 8 67081131 67081131 single base substitution C T intron_variant MELA-AU 8 67081143 67081143 single base substitution C T intron_variant MELA-AU 8 67081176 67081176 single base substitution C T intron_variant MELA-AU 8 67081239 67081239 single base substitution G A intron_variant MELA-AU 8 67081254 67081254 single base substitution G A intron_variant MELA-AU 8 67081264 67081264 single base substitution G A intron_variant MELA-AU 8 67081286 67081286 single base substitution C T intron_variant MELA-AU 8 67081289 67081289 single base substitution G A intron_variant MELA-AU 8 67081429 67081429 single base substitution G A intron_variant MELA-AU 8 67081568 67081568 single base substitution G A intron_variant MELA-AU 8 67081571 67081571 single base substitution C T intron_variant MELA-AU 8 67081624 67081624 single base substitution C T intron_variant MELA-AU 8 67081708 67081708 single base substitution C T intron_variant MELA-AU 8 67081844 67081844 deletion of <=200bp T - intron_variant MELA-AU 8 67082021 67082021 single base substitution C T intron_variant MELA-AU 8 67082099 67082099 single base substitution C T intron_variant MELA-AU 8 67082112 67082112 single base substitution G A intron_variant MELA-AU 8 67082131 67082131 single base substitution T A intron_variant MELA-AU 8 67082368 67082368 single base substitution T G intron_variant MELA-AU 8 67082522 67082522 single base substitution C G intron_variant MELA-AU 8 67082562 67082562 single base substitution C T intron_variant MELA-AU 8 67082573 67082573 single base substitution C T intron_variant MELA-AU 8 67082578 67082578 single base substitution C T intron_variant MELA-AU 8 67082689 67082689 single base substitution C T intron_variant MELA-AU 8 67082743 67082743 single base substitution G A intron_variant MELA-AU 8 67082827 67082827 single base substitution C T intron_variant MELA-AU 8 67082843 67082843 single base substitution G A intron_variant MELA-AU 8 67082912 67082912 single base substitution A G intron_variant MELA-AU 8 67083232 67083232 single base substitution G A intron_variant MELA-AU 8 67083262 67083262 single base substitution C T intron_variant MELA-AU 8 67083278 67083278 single base substitution C A intron_variant MELA-AU 8 67083285 67083285 deletion of <=200bp G - intron_variant MELA-AU 8 67083312 67083312 single base substitution G A intron_variant MELA-AU 8 67083321 67083321 single base substitution C G intron_variant MELA-AU 8 67083452 67083452 single base substitution C T intron_variant MELA-AU 8 67083498 67083498 single base substitution G A intron_variant MELA-AU 8 67083517 67083517 single base substitution C T intron_variant MELA-AU 8 67083537 67083537 single base substitution T C intron_variant MELA-AU 8 67083712 67083712 single base substitution C T intron_variant MELA-AU 8 67083792 67083792 single base substitution G A intron_variant MELA-AU 8 67083823 67083823 single base substitution G A intron_variant MELA-AU 8 67083842 67083842 single base substitution C T intron_variant MELA-AU 8 67083891 67083891 single base substitution C A intron_variant MELA-AU 8 67084020 67084020 single base substitution G A intron_variant MELA-AU 8 67084046 67084046 single base substitution C T intron_variant MELA-AU 8 67084166 67084166 single base substitution G A intron_variant MELA-AU 8 67084173 67084173 single base substitution G A intron_variant MELA-AU 8 67084288 67084288 single base substitution G A intron_variant MELA-AU 8 67084311 67084311 single base substitution G A intron_variant MELA-AU 8 67084315 67084315 single base substitution G A intron_variant MELA-AU 8 67084323 67084323 single base substitution G A intron_variant MELA-AU 8 67084545 67084545 single base substitution G A intron_variant MELA-AU 8 67084617 67084617 single base substitution C T intron_variant MELA-AU 8 67084770 67084770 single base substitution A G intron_variant MELA-AU 8 67084917 67084917 single base substitution C T intron_variant MELA-AU 8 67084919 67084919 single base substitution C T intron_variant MELA-AU 8 67085079 67085079 single base substitution C T intron_variant MELA-AU 8 67085148 67085148 single base substitution G A intron_variant MELA-AU 8 67085167 67085167 single base substitution T A intron_variant MELA-AU 8 67085356 67085356 single base substitution G A intron_variant MELA-AU 8 67085466 67085466 single base substitution C T intron_variant MELA-AU 8 67085467 67085467 single base substitution A C intron_variant MELA-AU 8 67085491 67085491 single base substitution G A intron_variant MELA-AU 8 67085608 67085608 single base substitution G A intron_variant MELA-AU 8 67085773 67085773 single base substitution G A intron_variant MELA-AU 8 67085825 67085825 single base substitution G A intron_variant MELA-AU 8 67085959 67085959 single base substitution C T intron_variant MELA-AU 8 67086033 67086033 single base substitution C T intron_variant MELA-AU 8 67086100 67086100 single base substitution G A intron_variant MELA-AU 8 67086253 67086253 single base substitution G A intron_variant MELA-AU 8 67086258 67086258 single base substitution G A intron_variant MELA-AU 8 67086389 67086389 single base substitution C T intron_variant MELA-AU 8 67086400 67086400 single base substitution G A intron_variant MELA-AU 8 67086457 67086457 single base substitution C T intron_variant MELA-AU 8 67086583 67086583 single base substitution A T intron_variant MELA-AU 8 67086626 67086626 single base substitution T C intron_variant MELA-AU 8 67086678 67086678 single base substitution C T intron_variant MELA-AU 8 67086686 67086686 single base substitution C T intron_variant MELA-AU 8 67086697 67086697 single base substitution C T intron_variant MELA-AU 8 67086773 67086773 single base substitution C T 3_prime_UTR_variant MELA-AU 8 67086773 67086773 single base substitution C T exon_variant MELA-AU 8 67086773 67086773 single base substitution C T missense_variant S224F 671C>T MELA-AU 8 67086773 67086773 single base substitution C T missense_variant S435F 1304C>T MELA-AU 8 67086773 67086773 single base substitution C T missense_variant S531F 1592C>T MELA-AU 8 67086995 67086995 single base substitution G A 3_prime_UTR_variant MELA-AU 8 67086995 67086995 single base substitution G A downstream_gene_variant MELA-AU 8 67086995 67086995 single base substitution G A exon_variant MELA-AU 8 67086999 67086999 single base substitution G A 3_prime_UTR_variant MELA-AU 8 67086999 67086999 single base substitution G A downstream_gene_variant MELA-AU 8 67086999 67086999 single base substitution G A exon_variant MELA-AU 8 67087014 67087014 single base substitution G A 3_prime_UTR_variant MELA-AU 8 67087014 67087014 single base substitution G A downstream_gene_variant MELA-AU 8 67087014 67087014 single base substitution G A exon_variant MELA-AU 8 67087212 67087212 single base substitution C T 3_prime_UTR_variant MELA-AU 8 67087212 67087212 single base substitution C T downstream_gene_variant MELA-AU 8 67087212 67087212 single base substitution C T exon_variant MELA-AU 8 67087322 67087322 single base substitution G A 3_prime_UTR_variant MELA-AU 8 67087322 67087322 single base substitution G A downstream_gene_variant MELA-AU 8 67087759 67087759 single base substitution T C downstream_gene_variant MELA-AU 8 67087789 67087789 single base substitution A G downstream_gene_variant MELA-AU 8 67088051 67088051 single base substitution C T downstream_gene_variant MELA-AU 8 67088313 67088313 single base substitution G A downstream_gene_variant MELA-AU 8 67088352 67088352 single base substitution C T downstream_gene_variant MELA-AU 8 67088353 67088353 single base substitution C T downstream_gene_variant MELA-AU 8 67088725 67088725 single base substitution A T downstream_gene_variant MELA-AU 8 67088801 67088801 single base substitution A T downstream_gene_variant MELA-AU 8 67088971 67088971 single base substitution G A downstream_gene_variant MELA-AU 8 67089554 67089554 single base substitution G C downstream_gene_variant MELA-AU 8 67090000 67090000 single base substitution G A downstream_gene_variant MELA-AU 8 67090208 67090208 single base substitution G A downstream_gene_variant MELA-AU 8 67090327 67090327 single base substitution G A downstream_gene_variant MELA-AU 8 67090522 67090523 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 67090566 67090566 single base substitution C G downstream_gene_variant MELA-AU 8 67090620 67090620 single base substitution C T downstream_gene_variant MELA-AU 8 67090630 67090630 single base substitution C T downstream_gene_variant MELA-AU 8 67090649 67090649 single base substitution T C downstream_gene_variant MELA-AU 8 67090720 67090720 single base substitution G A downstream_gene_variant MELA-AU 8 67090770 67090770 single base substitution A G downstream_gene_variant MELA-AU 8 67090824 67090824 single base substitution C T downstream_gene_variant MELA-AU 8 67090858 67090858 single base substitution T A downstream_gene_variant MELA-AU 8 67091075 67091075 single base substitution G A downstream_gene_variant MELA-AU 8 67091084 67091084 single base substitution G A downstream_gene_variant MELA-AU 8 67091111 67091111 single base substitution C T downstream_gene_variant MELA-AU 8 67091119 67091119 single base substitution G A downstream_gene_variant MELA-AU 8 67091141 67091141 single base substitution G A downstream_gene_variant MELA-AU 8 67091244 67091244 single base substitution C T downstream_gene_variant MELA-AU 8 67091556 67091556 single base substitution C T downstream_gene_variant MELA-AU 8 67091627 67091627 single base substitution G A downstream_gene_variant MELA-AU 8 67091772 67091772 single base substitution C T downstream_gene_variant MELA-AU 8 67091846 67091846 single base substitution C T downstream_gene_variant MELA-AU 8 67091950 67091950 single base substitution C T downstream_gene_variant MELA-AU 8 67091951 67091951 single base substitution A G downstream_gene_variant MELA-AU 8 67092097 67092097 single base substitution C A downstream_gene_variant MELA-AU 8 67092125 67092125 single base substitution C T downstream_gene_variant MELA-AU 8 67092206 67092206 single base substitution G A downstream_gene_variant MELA-AU 8 67092354 67092354 single base substitution C T downstream_gene_variant MELA-AU 8 67092384 67092384 single base substitution G A downstream_gene_variant MELA-AU 8 67092617 67092617 single base substitution G A downstream_gene_variant MELA-AU 8 67092711 67092711 single base substitution C T downstream_gene_variant ORCA-IN 8 67036294 67036294 single base substitution T A upstream_gene_variant ORCA-IN 8 67045596 67045596 single base substitution C T intron_variant ORCA-IN 8 67064093 67064093 single base substitution A T intron_variant ORCA-IN 8 67064093 67064093 single base substitution A T upstream_gene_variant ORCA-IN 8 67065038 67065038 single base substitution T C intron_variant ORCA-IN 8 67075273 67075273 single base substitution A T intron_variant ORCA-IN 8 67077203 67077203 single base substitution A G intron_variant ORCA-IN 8 67080192 67080192 single base substitution C T intron_variant ORCA-IN 8 67084877 67084877 single base substitution C T intron_variant OV-AU 8 67034456 67034456 single base substitution C A upstream_gene_variant OV-AU 8 67036696 67036696 single base substitution G T upstream_gene_variant OV-AU 8 67047370 67047370 single base substitution C T missense_variant H163Y 487C>T OV-AU 8 67047447 67047447 single base substitution C A intron_variant OV-AU 8 67048344 67048344 single base substitution A G intron_variant OV-AU 8 67050580 67050580 single base substitution C T intron_variant OV-AU 8 67052293 67052293 single base substitution C G intron_variant OV-AU 8 67053001 67053001 single base substitution C T intron_variant OV-AU 8 67054241 67054241 single base substitution C G intron_variant OV-AU 8 67056246 67056246 single base substitution T A intron_variant OV-AU 8 67056559 67056559 single base substitution T G intron_variant OV-AU 8 67058467 67058467 single base substitution C T intron_variant OV-AU 8 67058754 67058754 single base substitution A G intron_variant OV-AU 8 67059233 67059233 single base substitution A C intron_variant OV-AU 8 67059383 67059383 single base substitution T A intron_variant OV-AU 8 67062000 67062000 single base substitution G C intron_variant OV-AU 8 67062000 67062000 single base substitution G C missense_variant E242Q 724G>C OV-AU 8 67062000 67062000 single base substitution G C upstream_gene_variant OV-AU 8 67062785 67062785 single base substitution C T intron_variant OV-AU 8 67062785 67062785 single base substitution C T upstream_gene_variant OV-AU 8 67062933 67062933 single base substitution A C intron_variant OV-AU 8 67062933 67062933 single base substitution A C upstream_gene_variant OV-AU 8 67068032 67068032 single base substitution C A intron_variant OV-AU 8 67069309 67069309 single base substitution G A intron_variant OV-AU 8 67071057 67071057 single base substitution C A intron_variant OV-AU 8 67071649 67071649 single base substitution C G intron_variant OV-AU 8 67075024 67075024 single base substitution A G intron_variant OV-AU 8 67075298 67075298 single base substitution T A intron_variant OV-AU 8 67075453 67075453 single base substitution A T intron_variant OV-AU 8 67076515 67076515 single base substitution G T intron_variant OV-AU 8 67076815 67076815 single base substitution A T intron_variant OV-AU 8 67080042 67080042 single base substitution G T intron_variant OV-AU 8 67080103 67080103 single base substitution C G intron_variant OV-AU 8 67080498 67080498 single base substitution G A intron_variant OV-AU 8 67081863 67081863 single base substitution A T intron_variant OV-AU 8 67082474 67082474 single base substitution C G intron_variant OV-AU 8 67083087 67083087 single base substitution G C intron_variant OV-AU 8 67086301 67086301 single base substitution C T intron_variant OV-AU 8 67087726 67087726 single base substitution G A downstream_gene_variant OV-US 8 67039617 67039617 single base substitution G A synonymous_variant V38V 114G>A PACA-AU 8 67034570 67034570 single base substitution A G upstream_gene_variant PACA-AU 8 67035511 67035516 deletion of <=200bp ATATTG - upstream_gene_variant PACA-AU 8 67037684 67037684 single base substitution G C upstream_gene_variant PACA-AU 8 67039787 67039787 single base substitution C T intron_variant PACA-AU 8 67043052 67043052 single base substitution C T intron_variant PACA-AU 8 67044323 67044323 single base substitution G T intron_variant PACA-AU 8 67049807 67049807 single base substitution A T intron_variant PACA-AU 8 67051672 67051672 single base substitution C T intron_variant PACA-AU 8 67052746 67052754 deletion of <=200bp CTCTTGACA - intron_variant PACA-AU 8 67057957 67057957 single base substitution G A intron_variant PACA-AU 8 67058160 67058160 single base substitution A T intron_variant PACA-AU 8 67062810 67062810 single base substitution G A intron_variant PACA-AU 8 67062810 67062810 single base substitution G A upstream_gene_variant PACA-AU 8 67063582 67063582 single base substitution T A intron_variant PACA-AU 8 67063582 67063582 single base substitution T A upstream_gene_variant PACA-AU 8 67066506 67066506 single base substitution C T intron_variant PACA-AU 8 67066506 67066506 single base substitution C T synonymous_variant A487A 1461C>T PACA-AU 8 67073256 67073256 single base substitution T C intron_variant PACA-AU 8 67076519 67076519 single base substitution C T intron_variant PACA-AU 8 67077211 67077211 single base substitution G A intron_variant PACA-AU 8 67085157 67085157 single base substitution G T intron_variant PACA-AU 8 67085551 67085551 single base substitution T A intron_variant PACA-AU 8 67087969 67087969 single base substitution G T downstream_gene_variant PACA-AU 8 67089300 67089300 single base substitution C T downstream_gene_variant PACA-AU 8 67091883 67091886 deletion of <=200bp TAAA - downstream_gene_variant PACA-AU 8 67091942 67091942 single base substitution A G downstream_gene_variant PACA-CA 8 67036593 67036593 single base substitution C T upstream_gene_variant PACA-CA 8 67037350 67037350 single base substitution C T upstream_gene_variant PACA-CA 8 67038743 67038743 single base substitution T C upstream_gene_variant PACA-CA 8 67038841 67038841 single base substitution C A upstream_gene_variant PACA-CA 8 67039042 67039042 single base substitution G A upstream_gene_variant PACA-CA 8 67042128 67042128 single base substitution G T intron_variant PACA-CA 8 67042843 67042843 single base substitution G T intron_variant PACA-CA 8 67044003 67044003 single base substitution A G intron_variant PACA-CA 8 67045537 67045537 single base substitution C T intron_variant PACA-CA 8 67045557 67045557 single base substitution C T intron_variant PACA-CA 8 67045726 67045726 single base substitution C T intron_variant PACA-CA 8 67045991 67045991 single base substitution C T intron_variant PACA-CA 8 67048160 67048160 single base substitution C T intron_variant PACA-CA 8 67048337 67048337 single base substitution A G intron_variant PACA-CA 8 67050529 67050529 single base substitution G A intron_variant PACA-CA 8 67053277 67053277 single base substitution C T intron_variant PACA-CA 8 67056197 67056197 single base substitution G T intron_variant PACA-CA 8 67058641 67058641 single base substitution T A intron_variant PACA-CA 8 67062629 67062629 single base substitution G C intron_variant PACA-CA 8 67062629 67062629 single base substitution G C missense_variant E305Q 913G>C PACA-CA 8 67062629 67062629 single base substitution G C upstream_gene_variant PACA-CA 8 67064385 67064385 single base substitution T G intron_variant PACA-CA 8 67064385 67064385 single base substitution T G upstream_gene_variant PACA-CA 8 67064991 67064991 single base substitution G A intron_variant PACA-CA 8 67065577 67065577 single base substitution C A intron_variant PACA-CA 8 67065581 67065581 single base substitution G A intron_variant PACA-CA 8 67065942 67065942 single base substitution A T intron_variant PACA-CA 8 67070926 67070926 single base substitution C T intron_variant PACA-CA 8 67074874 67074874 single base substitution C A intron_variant PACA-CA 8 67074889 67074889 insertion of <=200bp - T intron_variant PACA-CA 8 67074928 67074928 single base substitution C T intron_variant PACA-CA 8 67080177 67080177 single base substitution G T intron_variant PACA-CA 8 67081006 67081006 single base substitution G A intron_variant PACA-CA 8 67085706 67085706 single base substitution C G intron_variant PACA-CA 8 67086012 67086012 single base substitution A T intron_variant PAEN-AU 8 67039162 67039164 deletion of <=200bp CTT - 5_prime_UTR_variant PAEN-AU 8 67039162 67039164 deletion of <=200bp CTT - upstream_gene_variant PAEN-AU 8 67053251 67053251 single base substitution C A intron_variant PAEN-AU 8 67062420 67062423 deletion of <=200bp TAAG - intron_variant PAEN-AU 8 67062420 67062423 deletion of <=200bp TAAG - upstream_gene_variant PAEN-AU 8 67062982 67062982 single base substitution A C intron_variant PAEN-AU 8 67062982 67062982 single base substitution A C upstream_gene_variant PAEN-AU 8 67064086 67064093 deletion of <=200bp AATAAATA - intron_variant PAEN-AU 8 67064086 67064093 deletion of <=200bp AATAAATA - upstream_gene_variant PAEN-AU 8 67080792 67080792 single base substitution A G intron_variant PAEN-IT 8 67036711 67036711 single base substitution C A upstream_gene_variant PAEN-IT 8 67069235 67069235 single base substitution C A intron_variant PBCA-DE 8 67042050 67042050 insertion of <=200bp - AG intron_variant PBCA-DE 8 67050524 67050524 single base substitution G A intron_variant PBCA-DE 8 67055873 67055873 single base substitution C T intron_variant PBCA-DE 8 67067261 67067261 single base substitution C A intron_variant PBCA-DE 8 67068331 67068331 single base substitution G A intron_variant PBCA-DE 8 67072592 67072593 deletion of <=200bp GT - intron_variant PBCA-DE 8 67073474 67073474 single base substitution C T intron_variant PBCA-DE 8 67075454 67075454 single base substitution C A intron_variant PBCA-DE 8 67080668 67080668 single base substitution T C intron_variant PBCA-DE 8 67086781 67086781 single base substitution G C 3_prime_UTR_variant PBCA-DE 8 67086781 67086781 single base substitution G C exon_variant PBCA-DE 8 67086781 67086781 single base substitution G C missense_variant A227P 679G>C PBCA-DE 8 67086781 67086781 single base substitution G C missense_variant A438P 1312G>C PBCA-DE 8 67086781 67086781 single base substitution G C missense_variant A534P 1600G>C PBCA-DE 8 67088973 67088973 single base substitution G A downstream_gene_variant PBCA-DE 8 67089425 67089425 single base substitution T G downstream_gene_variant PBCA-DE 8 67090397 67090398 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 8 67091063 67091063 single base substitution G A downstream_gene_variant PRAD-CA 8 67043271 67043271 single base substitution A G intron_variant PRAD-CA 8 67080335 67080335 single base substitution C T intron_variant PRAD-UK 8 67043708 67043708 single base substitution A T intron_variant PRAD-UK 8 67047358 67047358 single base substitution G A missense_variant A159T 475G>A PRAD-UK 8 67052989 67052989 single base substitution G A intron_variant PRAD-UK 8 67057169 67057169 single base substitution C T intron_variant PRAD-UK 8 67066072 67066072 single base substitution C A intron_variant PRAD-UK 8 67068239 67068239 single base substitution G T intron_variant PRAD-UK 8 67068817 67068817 single base substitution T A intron_variant PRAD-UK 8 67091512 67091512 single base substitution T G downstream_gene_variant READ-US 8 67039510 67039510 single base substitution G A missense_variant A3T 7G>A RECA-EU 8 67034609 67034609 single base substitution T A upstream_gene_variant RECA-EU 8 67037338 67037338 single base substitution T G upstream_gene_variant RECA-EU 8 67038246 67038246 single base substitution C A upstream_gene_variant RECA-EU 8 67063005 67063005 single base substitution G T intron_variant RECA-EU 8 67063005 67063005 single base substitution G T upstream_gene_variant RECA-EU 8 67068100 67068100 single base substitution C G intron_variant RECA-EU 8 67078659 67078659 single base substitution T A intron_variant RECA-EU 8 67089343 67089343 single base substitution G T downstream_gene_variant SKCA-BR 8 67034259 67034259 single base substitution C T upstream_gene_variant SKCA-BR 8 67034329 67034329 single base substitution G A upstream_gene_variant SKCA-BR 8 67035226 67035226 single base substitution C T upstream_gene_variant SKCA-BR 8 67036856 67036856 single base substitution G A upstream_gene_variant SKCA-BR 8 67038418 67038418 single base substitution C T upstream_gene_variant SKCA-BR 8 67038440 67038440 single base substitution G A upstream_gene_variant SKCA-BR 8 67038492 67038492 single base substitution A T upstream_gene_variant SKCA-BR 8 67038864 67038864 single base substitution G A upstream_gene_variant SKCA-BR 8 67039650 67039650 single base substitution A T missense_variant K49N 147A>T SKCA-BR 8 67039703 67039703 single base substitution G C intron_variant SKCA-BR 8 67040576 67040576 single base substitution C T missense_variant T69I 206C>T SKCA-BR 8 67041036 67041036 single base substitution C T intron_variant SKCA-BR 8 67041385 67041385 single base substitution A G intron_variant SKCA-BR 8 67042534 67042534 single base substitution G A intron_variant SKCA-BR 8 67042662 67042662 single base substitution G A intron_variant SKCA-BR 8 67043800 67043800 single base substitution C T intron_variant SKCA-BR 8 67044708 67044708 single base substitution T C intron_variant SKCA-BR 8 67045437 67045437 single base substitution G A intron_variant SKCA-BR 8 67045848 67045848 single base substitution T A intron_variant SKCA-BR 8 67046235 67046235 single base substitution G A intron_variant SKCA-BR 8 67046534 67046534 single base substitution G A intron_variant SKCA-BR 8 67046884 67046884 single base substitution G A intron_variant SKCA-BR 8 67046955 67046955 single base substitution G A intron_variant SKCA-BR 8 67047259 67047259 single base substitution G A missense_variant E126K 376G>A SKCA-BR 8 67047864 67047864 single base substitution A C intron_variant SKCA-BR 8 67049227 67049227 single base substitution G A intron_variant SKCA-BR 8 67049993 67049994 deletion of <=200bp GA - intron_variant SKCA-BR 8 67050253 67050253 single base substitution T C intron_variant SKCA-BR 8 67050638 67050638 single base substitution T A intron_variant SKCA-BR 8 67050644 67050644 single base substitution G A intron_variant SKCA-BR 8 67051270 67051270 single base substitution G T intron_variant SKCA-BR 8 67051711 67051712 deletion of <=200bp TC - intron_variant SKCA-BR 8 67051713 67051713 single base substitution A T intron_variant SKCA-BR 8 67052472 67052472 single base substitution C T intron_variant SKCA-BR 8 67052482 67052482 single base substitution C T intron_variant SKCA-BR 8 67052617 67052617 single base substitution A G intron_variant SKCA-BR 8 67052797 67052797 single base substitution C T intron_variant SKCA-BR 8 67054069 67054069 single base substitution C T intron_variant SKCA-BR 8 67055608 67055608 single base substitution G A intron_variant SKCA-BR 8 67057662 67057662 single base substitution C T intron_variant SKCA-BR 8 67058235 67058235 single base substitution C T intron_variant SKCA-BR 8 67058491 67058491 single base substitution T C intron_variant SKCA-BR 8 67059258 67059258 single base substitution C T intron_variant SKCA-BR 8 67059475 67059475 single base substitution T G intron_variant SKCA-BR 8 67059718 67059718 single base substitution G A intron_variant SKCA-BR 8 67059718 67059718 single base substitution G A upstream_gene_variant SKCA-BR 8 67059723 67059723 single base substitution G A intron_variant SKCA-BR 8 67059723 67059723 single base substitution G A upstream_gene_variant SKCA-BR 8 67059772 67059772 single base substitution C T intron_variant SKCA-BR 8 67059772 67059772 single base substitution C T upstream_gene_variant SKCA-BR 8 67061317 67061317 single base substitution G A intron_variant SKCA-BR 8 67061317 67061317 single base substitution G A upstream_gene_variant SKCA-BR 8 67063491 67063491 single base substitution C T intron_variant SKCA-BR 8 67063491 67063491 single base substitution C T upstream_gene_variant SKCA-BR 8 67063492 67063492 single base substitution C T intron_variant SKCA-BR 8 67063492 67063492 single base substitution C T upstream_gene_variant SKCA-BR 8 67063987 67063987 single base substitution G A intron_variant SKCA-BR 8 67063987 67063987 single base substitution G A upstream_gene_variant SKCA-BR 8 67064085 67064089 deletion of <=200bp TAATA - intron_variant SKCA-BR 8 67064085 67064089 deletion of <=200bp TAATA - upstream_gene_variant SKCA-BR 8 67064991 67064991 single base substitution G A intron_variant SKCA-BR 8 67065017 67065017 single base substitution C T intron_variant SKCA-BR 8 67065138 67065140 deletion of <=200bp TTG - intron_variant SKCA-BR 8 67065342 67065342 single base substitution C T intron_variant SKCA-BR 8 67065744 67065744 single base substitution G A intron_variant SKCA-BR 8 67065885 67065885 single base substitution T A intron_variant SKCA-BR 8 67069086 67069086 single base substitution G A intron_variant SKCA-BR 8 67069366 67069366 single base substitution G A intron_variant SKCA-BR 8 67069548 67069548 single base substitution G A intron_variant SKCA-BR 8 67069641 67069641 single base substitution C T intron_variant SKCA-BR 8 67070469 67070469 single base substitution G A intron_variant SKCA-BR 8 67071071 67071071 single base substitution A T intron_variant SKCA-BR 8 67071111 67071111 single base substitution C T intron_variant SKCA-BR 8 67071438 67071438 single base substitution T C intron_variant SKCA-BR 8 67071620 67071620 single base substitution C T intron_variant SKCA-BR 8 67072366 67072366 single base substitution C T intron_variant SKCA-BR 8 67073344 67073344 single base substitution G A intron_variant SKCA-BR 8 67073635 67073635 single base substitution C G intron_variant SKCA-BR 8 67073650 67073650 single base substitution T G intron_variant SKCA-BR 8 67074538 67074538 single base substitution T A intron_variant SKCA-BR 8 67074579 67074579 single base substitution C T intron_variant SKCA-BR 8 67076243 67076244 deletion of <=200bp GT - intron_variant SKCA-BR 8 67077087 67077087 single base substitution G A intron_variant SKCA-BR 8 67077947 67077947 single base substitution G C intron_variant SKCA-BR 8 67078305 67078305 single base substitution C T intron_variant SKCA-BR 8 67078650 67078650 single base substitution C T intron_variant SKCA-BR 8 67079290 67079290 single base substitution A C intron_variant SKCA-BR 8 67079416 67079416 single base substitution C T intron_variant SKCA-BR 8 67080047 67080047 single base substitution G A intron_variant SKCA-BR 8 67080468 67080468 single base substitution C T intron_variant SKCA-BR 8 67080552 67080552 single base substitution G A intron_variant SKCA-BR 8 67080584 67080584 single base substitution G A intron_variant SKCA-BR 8 67081014 67081014 single base substitution C T intron_variant SKCA-BR 8 67081239 67081239 single base substitution G A intron_variant SKCA-BR 8 67081623 67081623 single base substitution A G intron_variant SKCA-BR 8 67082132 67082132 single base substitution A T intron_variant SKCA-BR 8 67083554 67083554 single base substitution C T intron_variant SKCA-BR 8 67084735 67084735 single base substitution G A intron_variant SKCA-BR 8 67084923 67084923 single base substitution G A intron_variant SKCA-BR 8 67085259 67085259 single base substitution G A intron_variant SKCA-BR 8 67086010 67086010 single base substitution T G intron_variant SKCA-BR 8 67088279 67088279 single base substitution C T downstream_gene_variant SKCA-BR 8 67092039 67092039 single base substitution T G downstream_gene_variant SKCA-BR 8 67092446 67092447 deletion of <=200bp CT - downstream_gene_variant SKCM-US 8 67039548 67039548 single base substitution G A synonymous_variant Q15Q 45G>A SKCM-US 8 67039647 67039647 single base substitution G A synonymous_variant R48R 144G>A SKCM-US 8 67039668 67039668 single base substitution C T synonymous_variant F55F 165C>T SKCM-US 8 67040673 67040673 single base substitution G A synonymous_variant V101V 303G>A SKCM-US 8 67040674 67040674 single base substitution G A missense_variant E102K 304G>A SKCM-US 8 67040682 67040682 single base substitution C T synonymous_variant I104I 312C>T SKCM-US 8 67047234 67047234 single base substitution G A synonymous_variant K117K 351G>A SKCM-US 8 67047236 67047236 single base substitution A T missense_variant K118I 353A>T SKCM-US 8 67047244 67047244 single base substitution C T stop_gained Q121* 361C>T SKCM-US 8 67047294 67047294 single base substitution G A synonymous_variant L137L 411G>A SKCM-US 8 67047381 67047381 single base substitution G A synonymous_variant Q166Q 498G>A SKCM-US 8 67049333 67049333 single base substitution G A missense_variant E171K 511G>A SKCM-US 8 67049401 67049401 single base substitution G A synonymous_variant L193L 579G>A SKCM-US 8 67061995 67061995 single base substitution A C intron_variant SKCM-US 8 67061995 67061995 single base substitution A C missense_variant K240T 719A>C SKCM-US 8 67061995 67061995 single base substitution A C upstream_gene_variant SKCM-US 8 67062036 67062036 single base substitution C T intron_variant SKCM-US 8 67062036 67062036 single base substitution C T missense_variant H254Y 760C>T SKCM-US 8 67062036 67062036 single base substitution C T upstream_gene_variant SKCM-US 8 67062070 67062070 single base substitution G A intron_variant SKCM-US 8 67062070 67062070 single base substitution G A missense_variant G265E 794G>A SKCM-US 8 67062070 67062070 single base substitution G A upstream_gene_variant SKCM-US 8 67062108 67062108 single base substitution C T intron_variant SKCM-US 8 67062108 67062108 single base substitution C T synonymous_variant L278L 832C>T SKCM-US 8 67062108 67062108 single base substitution C T upstream_gene_variant SKCM-US 8 67062607 67062607 single base substitution G A intron_variant SKCM-US 8 67062607 67062607 single base substitution G A missense_variant M297I 891G>A SKCM-US 8 67062607 67062607 single base substitution G A upstream_gene_variant SKCM-US 8 67062683 67062683 single base substitution G A intron_variant SKCM-US 8 67062683 67062683 single base substitution G A missense_variant E323K 967G>A SKCM-US 8 67062683 67062683 single base substitution G A upstream_gene_variant SKCM-US 8 67064668 67064668 single base substitution G A exon_variant SKCM-US 8 67064668 67064668 single base substitution G A intron_variant SKCM-US 8 67064668 67064668 single base substitution G A missense_variant E348K 1042G>A SKCM-US 8 67064725 67064725 single base substitution C T exon_variant SKCM-US 8 67064725 67064725 single base substitution C T intron_variant SKCM-US 8 67064725 67064725 single base substitution C T missense_variant P367S 1099C>T SKCM-US 8 67064740 67064740 single base substitution A T exon_variant SKCM-US 8 67064740 67064740 single base substitution A T intron_variant SKCM-US 8 67064740 67064740 single base substitution A T missense_variant N372Y 1114A>T SKCM-US 8 67064772 67064772 single base substitution G A exon_variant SKCM-US 8 67064772 67064772 single base substitution G A intron_variant SKCM-US 8 67064772 67064772 single base substitution G A synonymous_variant V382V 1146G>A SKCM-US 8 67064807 67064807 single base substitution C T exon_variant SKCM-US 8 67064807 67064807 single base substitution C T intron_variant SKCM-US 8 67064807 67064807 single base substitution C T missense_variant S394F 1181C>T SKCM-US 8 67066387 67066387 single base substitution G A intron_variant SKCM-US 8 67066387 67066387 single base substitution G A missense_variant G448S 1342G>A SKCM-US 8 67066388 67066388 single base substitution G A intron_variant SKCM-US 8 67066388 67066388 single base substitution G A missense_variant G448D 1343G>A SKCM-US 8 67066400 67066400 single base substitution A G intron_variant SKCM-US 8 67066400 67066400 single base substitution A G missense_variant K452R 1355A>G SKCM-US 8 67066438 67066438 single base substitution G T intron_variant SKCM-US 8 67066438 67066438 single base substitution G T missense_variant G465C 1393G>T SKCM-US 8 67066444 67066444 single base substitution G A intron_variant SKCM-US 8 67066444 67066444 single base substitution G A missense_variant G467R 1399G>A SKCM-US 8 67066476 67066476 single base substitution G A intron_variant SKCM-US 8 67066476 67066476 single base substitution G A synonymous_variant S477S 1431G>A SKCM-US 8 67066484 67066484 single base substitution G A intron_variant SKCM-US 8 67066484 67066484 single base substitution G A missense_variant R480Q 1439G>A SKCM-US 8 67066485 67066485 single base substitution G A intron_variant SKCM-US 8 67066485 67066485 single base substitution G A synonymous_variant R480R 1440G>A SKCM-US 8 67066489 67066489 single base substitution G A intron_variant SKCM-US 8 67066489 67066489 single base substitution G A missense_variant A482T 1444G>A SKCM-US 8 67066540 67066540 single base substitution G A intron_variant SKCM-US 8 67066540 67066540 single base substitution G A missense_variant E499K 1495G>A SKCM-US 8 67086709 67086709 single base substitution G A exon_variant SKCM-US 8 67086709 67086709 single base substitution G A missense_variant G203R 607G>A SKCM-US 8 67086709 67086709 single base substitution G A missense_variant G414R 1240G>A SKCM-US 8 67086709 67086709 single base substitution G A missense_variant G510R 1528G>A SKCM-US 8 67086709 67086709 single base substitution G A stop_gained W539* 1616G>A SKCM-US 8 67086746 67086746 single base substitution C T 3_prime_UTR_variant SKCM-US 8 67086746 67086746 single base substitution C T exon_variant SKCM-US 8 67086746 67086746 single base substitution C T missense_variant A215V 644C>T SKCM-US 8 67086746 67086746 single base substitution C T missense_variant A426V 1277C>T SKCM-US 8 67086746 67086746 single base substitution C T missense_variant A522V 1565C>T SKCM-US 8 67086797 67086797 single base substitution C T 3_prime_UTR_variant SKCM-US 8 67086797 67086797 single base substitution C T exon_variant SKCM-US 8 67086797 67086797 single base substitution C T missense_variant S232F 695C>T SKCM-US 8 67086797 67086797 single base substitution C T missense_variant S443F 1328C>T SKCM-US 8 67086797 67086797 single base substitution C T missense_variant S539F 1616C>T SKCM-US 8 67086803 67086803 single base substitution C A 3_prime_UTR_variant SKCM-US 8 67086803 67086803 single base substitution C A exon_variant SKCM-US 8 67086803 67086803 single base substitution C A missense_variant S234Y 701C>A SKCM-US 8 67086803 67086803 single base substitution C A missense_variant S445Y 1334C>A SKCM-US 8 67086803 67086803 single base substitution C A missense_variant S541Y 1622C>A SKCM-US 8 67089128 67089128 single base substitution C T downstream_gene_variant SKCM-US 8 67089149 67089149 single base substitution C T downstream_gene_variant SKCM-US 8 67089264 67089264 single base substitution C T downstream_gene_variant SKCM-US 8 67089270 67089270 single base substitution G A downstream_gene_variant STAD-US 8 67039509 67039509 single base substitution C T synonymous_variant S2S 6C>T STAD-US 8 67040642 67040642 single base substitution G A missense_variant G91E 272G>A STAD-US 8 67040664 67040664 single base substitution C A missense_variant N98K 294C>A STAD-US 8 67047354 67047354 single base substitution G A synonymous_variant Q157Q 471G>A STAD-US 8 67047359 67047359 single base substitution C T missense_variant A159V 476C>T STAD-US 8 67049353 67049353 single base substitution C T synonymous_variant A177A 531C>T STAD-US 8 67061935 67061935 single base substitution G A intron_variant STAD-US 8 67061935 67061935 single base substitution G A missense_variant G220D 659G>A STAD-US 8 67061935 67061935 single base substitution G A upstream_gene_variant STAD-US 8 67064625 67064625 single base substitution A T exon_variant STAD-US 8 67064625 67064625 single base substitution A T intron_variant STAD-US 8 67064625 67064625 single base substitution A T missense_variant E333D 999A>T STAD-US 8 67064641 67064641 single base substitution G A exon_variant STAD-US 8 67064641 67064641 single base substitution G A intron_variant STAD-US 8 67064641 67064641 single base substitution G A missense_variant G339R 1015G>A STAD-US 8 67066483 67066483 single base substitution C T intron_variant STAD-US 8 67066483 67066483 single base substitution C T missense_variant R480W 1438C>T STAD-US 8 67089245 67089245 single base substitution C T downstream_gene_variant THCA-SA 8 67062583 67062583 single base substitution G A intron_variant THCA-SA 8 67062583 67062583 single base substitution G A synonymous_variant S289S 867G>A THCA-SA 8 67062583 67062583 single base substitution G A upstream_gene_variant THCA-SA 8 67064654 67064654 single base substitution A G exon_variant THCA-SA 8 67064654 67064654 single base substitution A G intron_variant THCA-SA 8 67064654 67064654 single base substitution A G missense_variant K343R 1028A>G THCA-SA 8 67089425 67089425 single base substitution T G downstream_gene_variant THCA-US 8 67089559 67089561 deletion of <=200bp GCG - downstream_gene_variant UCEC-US 8 67039514 67039514 single base substitution C A missense_variant S4Y 11C>A UCEC-US 8 67049423 67049423 single base substitution G A missense_variant E201K 601G>A UCEC-US 8 67062108 67062108 single base substitution C A intron_variant UCEC-US 8 67062108 67062108 single base substitution C A missense_variant L278M 832C>A UCEC-US 8 67062108 67062108 single base substitution C A upstream_gene_variant UCEC-US 8 67062673 67062673 single base substitution G T intron_variant UCEC-US 8 67062673 67062673 single base substitution G T missense_variant K319N 957G>T UCEC-US 8 67062673 67062673 single base substitution G T upstream_gene_variant UCEC-US 8 67064611 67064611 single base substitution G A exon_variant UCEC-US 8 67064611 67064611 single base substitution G A intron_variant UCEC-US 8 67064611 67064611 single base substitution G A splice_acceptor_variant UCEC-US 8 67064668 67064668 single base substitution G T exon_variant UCEC-US 8 67064668 67064668 single base substitution G T intron_variant UCEC-US 8 67064668 67064668 single base substitution G T stop_gained E348* 1042G>T UCEC-US 8 67064700 67064700 single base substitution G T exon_variant UCEC-US 8 67064700 67064700 single base substitution G T intron_variant UCEC-US 8 67064700 67064700 single base substitution G T missense_variant E358D 1074G>T UCEC-US 8 67066340 67066340 single base substitution C T intron_variant UCEC-US 8 67066340 67066340 single base substitution C T missense_variant A432V 1295C>T UCEC-US 8 67066356 67066356 single base substitution G A intron_variant UCEC-US 8 67066356 67066356 single base substitution G A synonymous_variant A437A 1311G>A UCEC-US 8 67066432 67066432 single base substitution A G intron_variant UCEC-US 8 67066432 67066432 single base substitution A G missense_variant S463G 1387A>G UCEC-US 8 67086758 67086758 single base substitution G T 3_prime_UTR_variant UCEC-US 8 67086758 67086758 single base substitution G T exon_variant UCEC-US 8 67086758 67086758 single base substitution G T missense_variant G219V 656G>T UCEC-US 8 67086758 67086758 single base substitution G T missense_variant G430V 1289G>T UCEC-US 8 67086758 67086758 single base substitution G T missense_variant G526V 1577G>T UCEC-US 8 67089246 67089246 single base substitution T G downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AA-3814-01 COSM270794 c.1466C>T p.A489V Substitution - Missense 8:66154276-66154276 + Pat_58_A COSM5874885 c.1534G>A p.E512K Substitution - Missense 8:66174480-66174480 + CHOL11 COSM1744620 c.80C>T p.P27L Substitution - Missense 8:66127348-66127348 + TCGA-A2-A0T5-01 COSM3834911 c.1506A>C p.A502A Substitution - coding silent 8:66154316-66154316 + HT55 COSM2720806 c.289A>T p.R97W Substitution - Missense 8:66128424-66128424 + 40M COSM5586854 c.868G>A p.E290K Substitution - Missense 8:66150349-66150349 + TCGA-FW-A3R5-06 COSM3925465 c.1393G>T p.G465C Substitution - Missense 8:66154203-66154203 + TCGA-D1-A103-01 COSM1101055 c.1311G>A p.A437A Substitution - coding silent 8:66154121-66154121 + TCGA-FW-A3R5-06 COSM3925461 c.45G>A p.Q15Q Substitution - coding silent 8:66127313-66127313 + TCGA-OK-A5Q2-01 COSM3834905 c.549C>T p.N183N Substitution - coding silent 8:66137136-66137136 + TCGA-EE-A2M6-06 COSM2720798 c.144G>A p.R48R Substitution - coding silent 8:66127412-66127412 + TCGA-IH-A3EA-01 COSM3650261 c.1495G>A p.E499K Substitution - Missense 8:66154305-66154305 + TCGA-EB-A431-01 COSM3650245 c.1099C>T p.P367S Substitution - Missense 8:66152490-66152490 + Pat_41_B COSM5874883 c.274G>A p.V92I Substitution - Missense 8:66128409-66128409 + HCC2998 COSM2720854 c.1018G>A p.E340K Substitution - Missense 8:66152409-66152409 + PT52 COSM5939871 c.715G>A p.E239K Substitution - Missense 8:66149756-66149756 + Br15X COSM54551 c.1604G>A p.R535H Substitution - Missense 8:66174550-66174550 + 12T COSM106910 c.1616C>T p.S539F Substitution - Missense 8:66174562-66174562 + TCGA-23-1124-01 COSM81837 c.114G>A p.V38V Substitution - coding silent 8:66127382-66127382 + Pat_08_A COSM5874887 c.1549C>T p.Q517* Substitution - Nonsense 8:66174495-66174495 + TCGA-BF-A1PX-01 COSM4905287 c.1399G>A p.G467R Substitution - Missense 8:66154209-66154209 + WM3211 COSM3727437 c.550G>A p.D184N Substitution - Missense 8:66137137-66137137 + TCGA-AP-A054-01 COSM1101054 c.1295C>T p.A432V Substitution - Missense 8:66154105-66154105 + I2L-P24Tb-Tumor-Biopsy COSM5358847 c.9A>G p.A3A Substitution - coding silent 8:66127277-66127277 + LUAD-F00057 COSM365520 c.771C>A p.N257K Substitution - Missense 8:66149812-66149812 + TCGA-66-2756-01 COSM750982 c.180G>A p.P60P Substitution - coding silent 8:66128315-66128315 + PDA_049 COSM1552894 c.772G>A p.V258I Substitution - Missense 8:66149813-66149813 + TCGA-ER-A19P-06 COSM3650266 c.1622C>A p.S541Y Substitution - Missense 8:66174568-66174568 + TCGA-ER-A194-01 COSM3650259 c.1444G>A p.A482T Substitution - Missense 8:66154254-66154254 + TCGA-EK-A2PM-01 COSM4831266 c.1014C>T p.G338G Substitution - coding silent 8:66152405-66152405 + I2L-P24Ta-Tumor-Organoid COSM5358847 c.9A>G p.A3A Substitution - coding silent 8:66127277-66127277 + CSCC-44-T COSM4569242 c.1615T>A p.S539T Substitution - Missense 8:66174561-66174561 + SC_9031 COSM2720852 c.999A>T p.E333D Substitution - Missense 8:66152390-66152390 + 225 COSM4425788 c.282A>G p.G94G Substitution - coding silent 8:66128417-66128417 + PD13418a COSM1457834 c.224G>A p.R75Q Substitution - Missense 8:66128359-66128359 + LUAD-B00915 COSM391084 c.271delG p.V92fs*46 Deletion - Frameshift 8:66128406-66128406 + TCGA-CA-6717-01 COSM1457831 c.26C>A p.S9Y Substitution - Missense 8:66127294-66127294 + TCGA-CD-8524-01 COSM3901005 c.294C>A p.N98K Substitution - Missense 8:66128429-66128429 + S02120 COSM5673852 c.1165G>A p.G389R Substitution - Missense 8:66152556-66152556 + YURTHE COSM106910 c.1616C>T p.S539F Substitution - Missense 8:66174562-66174562 + TCGA-EE-A29V-06 COSM3650214 c.165C>T p.F55F Substitution - coding silent 8:66127433-66127433 + TCGA-EE-A20C-06 COSM3650249 c.1181C>T p.S394F Substitution - Missense 8:66152572-66152572 + PD13631a COSM5767725 c.838-1G>A p.? Unknown 8:66150216-66150216 + 587298 COSM1230360 c.1002A>T p.E334D Substitution - Missense 8:66152393-66152393 + TCGA-FS-A4FC-06 COSM3650231 c.579G>A p.L193L Substitution - coding silent 8:66137166-66137166 + YUKRIN COSM1700150 c.913G>A p.E305K Substitution - Missense 8:66150394-66150394 + TCGA-CA-6718-01 COSM1457832 c.168+1G>T p.? Unknown 8:66127437-66127437 + 391 COSM2720806 c.289A>T p.R97W Substitution - Missense 8:66128424-66128424 + TCGA-AA-3655-01 COSM1457840 c.1015G>A p.G339R Substitution - Missense 8:66152406-66152406 + TCGA-EB-A431-01 COSM3650228 c.411G>A p.L137L Substitution - coding silent 8:66135059-66135059 + TCGA-AA-3875-01 COSM272200 c.1352G>A p.R451Q Substitution - Missense 8:66154162-66154162 + HCC159 COSM3663837 c.1610T>C p.I537T Substitution - Missense 8:66174556-66174556 + TCGA-AZ-4315-01 COSM1457835 c.245G>T p.R82I Substitution - Missense 8:66128380-66128380 + TCGA-18-3409-01 COSM750976 c.1135C>T p.L379F Substitution - Missense 8:66152526-66152526 + TCGA-BS-A0UV-01 COSM1101049 c.832C>A p.L278M Substitution - Missense 8:66149873-66149873 + TARGET-30-PARJMX COSM1288626 c.1555C>G p.Q519E Substitution - Missense 8:66174501-66174501 + TCGA-FS-A1ZC-06 COSM3650241 c.967G>A p.E323K Substitution - Missense 8:66150448-66150448 + TCGA-FW-A3R5-06 COSM3925467 c.1431G>A p.S477S Substitution - coding silent 8:66154241-66154241 + AOCS-077-1-6 COSM2720816 c.487C>T p.H163Y Substitution - Missense 8:66135135-66135135 + BZ04 COSM5757935 c.1416A>G p.P472P Substitution - coding silent 8:66154226-66154226 + TCGA-IH-A3EA-01 COSM2720798 c.144G>A p.R48R Substitution - coding silent 8:66127412-66127412 + TCGA-BR-8059-01 COSM194579 c.1438C>T p.R480W Substitution - Missense 8:66154248-66154248 + TCGA-06-0152-01 COSM2149838 c.817G>T p.E273* Substitution - Nonsense 8:66149858-66149858 + ME100L COSM231156 c.1048G>A p.G350R Substitution - Missense 8:66152439-66152439 + CSCC-49-T COSM4507378 c.744C>T p.I248I Substitution - coding silent 8:66149785-66149785 + HCC127T COSM3663835 c.217G>T p.G73W Substitution - Missense 8:66128352-66128352 + TCGA-AX-A0J0-01 COSM1101051 c.986-1G>A p.? Unknown 8:66152376-66152376 + TCGA-ER-A2NG-06 COSM3650253 c.1343G>A p.G448D Substitution - Missense 8:66154153-66154153 + C086 COSM5540820 c.1390G>A p.E464K Substitution - Missense 8:66154200-66154200 + TCGA-D3-A51G-06 COSM3650243 c.1042G>A p.E348K Substitution - Missense 8:66152433-66152433 + ESO-0129 COSM1268557 c.1071_1076delAGAGGT p.V359_E360delVE Deletion - In frame 8:66152462-66152467 + Pat_58_B COSM5874885 c.1534G>A p.E512K Substitution - Missense 8:66174480-66174480 + TCGA-85-6560-01 COSM750978 c.434C>A p.S145Y Substitution - Missense 8:66135082-66135082 + RK080_C01 COSM1635843 c.267A>G p.R89R Substitution - coding silent 8:66128402-66128402 + sysucc-880T COSM5463729 c.59T>C p.L20S Substitution - Missense 8:66127327-66127327 + T3118 COSM4736156 c.1160delC p.P388fs*23 Deletion - Frameshift 8:66152551-66152551 + Au1 COSM5597756 c.1034G>A p.G345E Substitution - Missense 8:66152425-66152425 + TCGA-22-4599-01 COSM750980 c.268C>T p.H90Y Substitution - Missense 8:66128403-66128403 + TCGA-EI-6917-01 COSM2720792 c.7G>A p.A3T Substitution - Missense 8:66127275-66127275 + YUFOLD COSM1700148 c.188_189CC>AA p.P63Q Substitution - Missense 8:66128323-66128324 + TCGA-AN-A0FV-01 COSM454750 c.1007A>C p.E336A Substitution - Missense 8:66152398-66152398 + HCC131T COSM5824572 c.182A>T p.Y61F Substitution - Missense 8:66128317-66128317 + TCGA-AC-A23H-01 COSM3834903 c.15G>A p.L5L Substitution - coding silent 8:66127283-66127283 + PT48 COSM5932317 c.342-8C>T p.? Unknown 8:66134982-66134982 + I2L-P24Tb-Tumor-Organoid COSM5358847 c.9A>G p.A3A Substitution - coding silent 8:66127277-66127277 + TCGA-DB-A4XF-01 COSM3650265 c.1565C>T p.A522V Substitution - Missense 8:66174511-66174511 + LUAD-F00162 COSM366696 c.436C>G p.L146V Substitution - Missense 8:66135084-66135084 + CN-AML-08-T COSM5425265 c.987A>G p.E329E Substitution - coding silent 8:66152378-66152378 + TCGA-G4-6311-01 COSM3699132 c.652C>A p.L218M Substitution - Missense 8:66149693-66149693 + 12T COSM107811 c.652C>T p.L218L Substitution - coding silent 8:66149693-66149693 + TCGA-33-4566-01 COSM750974 c.1155G>T p.Q385H Substitution - Missense 8:66152546-66152546 + TCGA-AO-A12D-01 COSM454748 c.312C>A p.I104I Substitution - coding silent 8:66128447-66128447 + PDA_088 COSM5002913 c.1108G>T p.D370Y Substitution - Missense 8:66152499-66152499 + TCGA-AG-3583-01 COSM287903 c.1315C>T p.P439S Substitution - Missense 8:66154125-66154125 + 587340 COSM1230358 c.678G>T p.K226N Substitution - Missense 8:66149719-66149719 + NCI-H835 COSM2720860 c.1219G>A p.D407N Substitution - Missense 8:66152610-66152610 + 321-01-1TD COSM146043 c.1310C>T p.A437V Substitution - Missense 8:66154120-66154120 + TCGA-AX-A05Z-01 COSM1101050 c.957G>T p.K319N Substitution - Missense 8:66150438-66150438 + CHC798T COSM4958180 c.1201G>T p.A401S Substitution - Missense 8:66152592-66152592 + TCGA-ER-A19W-06 COSM4398730 c.760C>T p.H254Y Substitution - Missense 8:66149801-66149801 + BD114T COSM5503379 c.1513G>T p.A505S Substitution - Missense 8:66154323-66154323 + TCGA-CD-5800-01 COSM3901011 c.531C>T p.A177A Substitution - coding silent 8:66137118-66137118 + TCGA-AZ-4315-01 COSM1457834 c.224G>A p.R75Q Substitution - Missense 8:66128359-66128359 + RK181_C01 COSM3745641 c.985G>A p.E329K Substitution - Missense 8:66150466-66150466 + TCGA-EE-A3AA-06 COSM750977 c.498G>A p.Q166Q Substitution - coding silent 8:66135146-66135146 + TCGA-EA-A3QD-01 COSM4821771 c.872C>T p.A291V Substitution - Missense 8:66150353-66150353 + TCGA-BS-A0UV-01 COSM1101047 c.11C>A p.S4Y Substitution - Missense 8:66127279-66127279 + PR-3043 COSM220037 c.688A>G p.T230A Substitution - Missense 8:66149729-66149729 + TCGA-FS-A1ZK-06 COSM106910 c.1616C>T p.S539F Substitution - Missense 8:66174562-66174562 + TCGA-D3-A5GO-06 COSM3650222 c.351G>A p.K117K Substitution - coding silent 8:66134999-66134999 + TCGA-AA-3663-01 COSM1457833 c.195A>C p.R65S Substitution - Missense 8:66128330-66128330 + TCGA-29-1691-01 COSM1330922 c.269A>C p.H90P Substitution - Missense 8:66128404-66128404 + TCGA-D3-A2JN-06 COSM3650233 c.719A>C p.K240T Substitution - Missense 8:66149760-66149760 + CHC798T COSM4958180 c.1201G>T p.A401S Substitution - Missense 8:66152592-66152592 + TCGA-06-0152 COSM2149838 c.817G>T p.E273* Substitution - Nonsense 8:66149858-66149858 + T2941 COSM2720871 c.1389C>T p.S463S Substitution - coding silent 8:66154199-66154199 + CHC320T COSM3669913 c.1587T>C p.A529A Substitution - coding silent 8:66174533-66174533 + 53M COSM5595482 c.1199C>T p.P400L Substitution - Missense 8:66152590-66152590 + TCGA-AP-A0LM-01 COSM1101048 c.601G>A p.E201K Substitution - Missense 8:66137188-66137188 + TCGA-EB-A431-01 COSM3650263 c.1528G>A p.G510R Substitution - Missense 8:66174474-66174474 + CSCC-60-T COSM4497962 c.509C>T p.S170F Substitution - Missense 8:66137096-66137096 + TCGA-ER-A19F-06 COSM3650265 c.1565C>T p.A522V Substitution - Missense 8:66174511-66174511 + TCGA-18-3409-01 COSM750977 c.498G>A p.Q166Q Substitution - coding silent 8:66135146-66135146 + TCGA-HU-A4GT-01 COSM3901001 c.6C>T p.S2S Substitution - coding silent 8:66127274-66127274 + TCGA-BR-8382-01 COSM3901001 c.6C>T p.S2S Substitution - coding silent 8:66127274-66127274 + 742_T COSM3951771 c.790T>G p.S264A Substitution - Missense 8:66149831-66149831 + PD24207a COSM5768253 c.223C>T p.R75* Substitution - Nonsense 8:66128358-66128358 + 41 COSM5733897 c.704G>T p.R235L Substitution - Missense 8:66149745-66149745 + 40M COSM1101048 c.601G>A p.E201K Substitution - Missense 8:66137188-66137188 + TCGA-HU-8602-01 COSM2720852 c.999A>T p.E333D Substitution - Missense 8:66152390-66152390 + HN_63021 COSM129903 c.344C>A p.P115Q Substitution - Missense 8:66134992-66134992 + 2492723 COSM2720796 c.121C>T p.P41S Substitution - Missense 8:66127389-66127389 + CHC320T COSM3669913 c.1587T>C p.A529A Substitution - coding silent 8:66174533-66174533 + LOVO COSM2720792 c.7G>A p.A3T Substitution - Missense 8:66127275-66127275 + TCGA-EE-A3JA-06 COSM3650257 c.1439G>A p.R480Q Substitution - Missense 8:66154249-66154249 + TCGA-AP-A0LM-01 COSM1101053 c.1074G>T p.E358D Substitution - Missense 8:66152465-66152465 + 587336 COSM1230359 c.545G>A p.S182N Substitution - Missense 8:66137132-66137132 + TCGA-EE-A2GR-06 COSM3650235 c.794G>A p.G265E Substitution - Missense 8:66149835-66149835 + TCGA-HU-A4G8-01 COSM3901007 c.471G>A p.Q157Q Substitution - coding silent 8:66135119-66135119 + PD6042a COSM5781664 c.580G>T p.E194* Substitution - Nonsense 8:66137167-66137167 + TCGA-D9-A6EC-06 COSM4404462 c.511G>A p.E171K Substitution - Missense 8:66137098-66137098 + TCGA-BR-8680-01 COSM3901009 c.476C>T p.A159V Substitution - Missense 8:66135124-66135124 + 1N31-VS-1T31 COSM4974448 c.72C>T p.L24L Substitution - coding silent 8:66127340-66127340 + TCGA-27-2519-01 COSM3413086 c.211G>T p.A71S Substitution - Missense 8:66128346-66128346 + 587256 COSM1230361 c.101C>T p.T34M Substitution - Missense 8:66127369-66127369 + 2492722 COSM2720796 c.121C>T p.P41S Substitution - Missense 8:66127389-66127389 + UACC-62 COSM1673938 c.566T>G p.V189G Substitution - Missense 8:66137153-66137153 + TCGA-C8-A26Y-01 COSM3834907 c.799C>T p.Q267* Substitution - Nonsense 8:66149840-66149840 + STC243 COSM5063291 c.382G>A p.E128K Substitution - Missense 8:66135030-66135030 + ME045T COSM229517 c.583G>A p.D195N Substitution - Missense 8:66137170-66137170 + TCGA-B8-4151-01 COSM486594 c.366C>A p.P122P Substitution - coding silent 8:66135014-66135014 + PT35 COSM3901003 c.272G>A p.G91E Substitution - Missense 8:66128407-66128407 + AOCS-153-1-2 COSM4151553 c.724G>C p.E242Q Substitution - Missense 8:66149765-66149765 + PD4847a COSM5778070 c.951A>T p.E317D Substitution - Missense 8:66150432-66150432 + CSCC-55-T COSM4524970 c.1300G>A p.A434T Substitution - Missense 8:66154110-66154110 + 3N59-VS-3T59 COSM194579 c.1438C>T p.R480W Substitution - Missense 8:66154248-66154248 + I2L-P24Ta-Tumor-Biopsy COSM5358847 c.9A>G p.A3A Substitution - coding silent 8:66127277-66127277 + TCGA-EB-A553-01 COSM3650226 c.361C>T p.Q121* Substitution - Nonsense 8:66135009-66135009 + TCGA-BF-A1PX-01 COSM2720879 c.1440G>A p.R480R Substitution - coding silent 8:66154250-66154250 + Pat_08_B COSM5874887 c.1549C>T p.Q517* Substitution - Nonsense 8:66174495-66174495 + 321 COSM146043 c.1310C>T p.A437V Substitution - Missense 8:66154120-66154120 + TCGA-GD-A3OP-01 COSM1314146 c.243T>C p.C81C Substitution - coding silent 8:66128378-66128378 + 188 COSM1700150 c.913G>A p.E305K Substitution - Missense 8:66150394-66150394 + TCGA-EE-A3AC-06 COSM3650251 c.1342G>A p.G448S Substitution - Missense 8:66154152-66154152 + 8061176 COSM3395377 c.1461C>T p.A487A Substitution - coding silent 8:66154271-66154271 + TCGA-33-4566-01 COSM750975 c.1147G>T p.E383* Substitution - Nonsense 8:66152538-66152538 + TCGA-AZ-4315-01 COSM1457836 c.307A>C p.N103H Substitution - Missense 8:66128442-66128442 + CN-AML-NR-08-Dx COSM5425265 c.987A>G p.E329E Substitution - coding silent 8:66152378-66152378 + PD18734a COSM3650237 c.832C>T p.L278L Substitution - coding silent 8:66149873-66149873 + PCSI_0049_Pa_X COSM3382284 c.913G>C p.E305Q Substitution - Missense 8:66150394-66150394 + YUSIV COSM3925467 c.1431G>A p.S477S Substitution - coding silent 8:66154241-66154241 + T3094 COSM4736154 c.973G>T p.D325Y Substitution - Missense 8:66150454-66150454 + T2269 COSM4736152 c.761A>G p.H254R Substitution - Missense 8:66149802-66149802 + TCGA-HU-A4GU-01 COSM3901003 c.272G>A p.G91E Substitution - Missense 8:66128407-66128407 + TCGA-CD-A4MG-01 COSM2720852 c.999A>T p.E333D Substitution - Missense 8:66152390-66152390 + TCGA-FS-A1ZK-06 COSM3650218 c.304G>A p.E102K Substitution - Missense 8:66128439-66128439 + HCT116 COSM2720850 c.970A>G p.I324V Substitution - Missense 8:66150451-66150451 + PT52 COSM277805 c.373G>A p.E125K Substitution - Missense 8:66135021-66135021 + TCGA-BR-4184-01 COSM3901013 c.659G>A p.G220D Substitution - Missense 8:66149700-66149700 + BD239T COSM272200 c.1352G>A p.R451Q Substitution - Missense 8:66154162-66154162 + TCGA-FW-A3R5-06 COSM3925463 c.1146G>A p.V382V Substitution - coding silent 8:66152537-66152537 + TCGA-A2-A0D2-01 COSM454749 c.875C>G p.S292* Substitution - Nonsense 8:66150356-66150356 + ESCC_94 COSM2720852 c.999A>T p.E333D Substitution - Missense 8:66152390-66152390 + TCGA-EE-A181-06 COSM3650241 c.967G>A p.E323K Substitution - Missense 8:66150448-66150448 + Au5 COSM3745641 c.985G>A p.E329K Substitution - Missense 8:66150466-66150466 + TCGA-AA-A00N-01 COSM277805 c.373G>A p.E125K Substitution - Missense 8:66135021-66135021 + HCC159T COSM3663837 c.1610T>C p.I537T Substitution - Missense 8:66174556-66174556 + LUAD-F00257 COSM340298 c.1176A>G p.P392P Substitution - coding silent 8:66152567-66152567 + TCGA-60-2709-01 COSM750979 c.417C>T p.C139C Substitution - coding silent 8:66135065-66135065 + PT15_1 COSM5897690 c.51G>A p.M17I Substitution - Missense 8:66127319-66127319 + ESO-0280 COSM1268558 c.956A>C p.K319T Substitution - Missense 8:66150437-66150437 + TCGA-D5-6924-01 COSM1457842 c.1199C>A p.P400Q Substitution - Missense 8:66152590-66152590 + TCGA-CZ-5989-01 COSM486595 c.1107A>C p.E369D Substitution - Missense 8:66152498-66152498 + TCGA-A8-A09Z-01 COSM3834909 c.1102G>T p.G368* Substitution - Nonsense 8:66152493-66152493 + TCGA-FS-A1ZQ-06 COSM3650247 c.1114A>T p.N372Y Substitution - Missense 8:66152505-66152505 + pfg129T COSM2720818 c.529G>A p.A177T Substitution - Missense 8:66137116-66137116 + C086 COSM5540822 c.537C>T p.L179L Substitution - coding silent 8:66137124-66137124 + HCC127 COSM3663835 c.217G>T p.G73W Substitution - Missense 8:66128352-66128352 + ME044T COSM229102 c.965G>A p.R322H Substitution - Missense 8:66150446-66150446 + TCGA-G9-6496-01 COSM1132715 c.1028A>G p.K343R Substitution - Missense 8:66152419-66152419 + LIM1899 COSM2720818 c.529G>A p.A177T Substitution - Missense 8:66137116-66137116 + T2269 COSM2720814 c.468C>T p.C156C Substitution - coding silent 8:66135116-66135116 + TCGA-EE-A2MR-06 COSM3650255 c.1355A>G p.K452R Substitution - Missense 8:66154165-66154165 + TCGA-FS-A4FC-06 COSM3650224 c.353A>T p.K118I Substitution - Missense 8:66135001-66135001 + HN_62426 COSM129904 c.687G>T p.M229I Substitution - Missense 8:66149728-66149728 + TCGA-ER-A19M-06 COSM3650216 c.303G>A p.V101V Substitution - coding silent 8:66128438-66128438 + TCGA-D3-A3MR-06 COSM3650220 c.312C>T p.I104I Substitution - coding silent 8:66128447-66128447 + PT37 COSM272200 c.1352G>A p.R451Q Substitution - Missense 8:66154162-66154162 + LUAD-RT-S01813 COSM383561 c.1626G>T p.W542C Substitution - Missense 8:66174572-66174572 + YUBER COSM1700149 c.892G>A p.E298K Substitution - Missense 8:66150373-66150373 + YUKSI COSM3779307 c.436C>T p.L146L Substitution - coding silent 8:66135084-66135084 + TCGA-FJ-A3Z7-01 COSM3779307 c.436C>T p.L146L Substitution - coding silent 8:66135084-66135084 + 49M COSM5593585 c.1132G>A p.E378K Substitution - Missense 8:66152523-66152523 + ESCC_30 COSM5627698 c.1236+1G>A p.? Unknown 8:66152628-66152628 + TCGA-D1-A103-01 COSM1101057 c.1577G>T p.G526V Substitution - Missense 8:66174523-66174523 + TCGA-DK-A2I6-01 COSM1314147 c.1534G>C p.E512Q Substitution - Missense 8:66174480-66174480 + TCGA-EE-A29L-06 COSM3650239 c.891G>A p.M297I Substitution - Missense 8:66150372-66150372 + 2492720 COSM2720796 c.121C>T p.P41S Substitution - Missense 8:66127389-66127389 + RK308_C01 COSM2720852 c.999A>T p.E333D Substitution - Missense 8:66152390-66152390 + TCGA-F4-6806-01 COSM1457843 c.1351C>T p.R451W Substitution - Missense 8:66154161-66154161 + BD131T COSM5521158 c.1462G>A p.A488T Substitution - Missense 8:66154272-66154272 + CP66-MEL COSM23472 c.750G>A p.K250K Substitution - coding silent 8:66149791-66149791 + ZZUFHECRKL-G062T COSM5432836 c.1382C>A p.P461Q Substitution - Missense 8:66154192-66154192 + TCGA-CG-4306-01 COSM1457840 c.1015G>A p.G339R Substitution - Missense 8:66152406-66152406 + T2940 COSM4736158 c.1647A>T p.*549C Nonstop extension 8:66174593-66174593 + TCGA-D3-A3CB-06 COSM3650237 c.832C>T p.L278L Substitution - coding silent 8:66149873-66149873 + 2492721 COSM2720796 c.121C>T p.P41S Substitution - Missense 8:66127389-66127389 + TCGA-BS-A0UJ-01 COSM1101052 c.1042G>T p.E348* Substitution - Nonsense 8:66152433-66152433 + RK187_C01 COSM3745639 c.812A>T p.E271V Substitution - Missense 8:66149853-66149853 + 526T COSM4382251 c.212C>T p.A71V Substitution - Missense 8:66128347-66128347 + TCGA-AZ-4315-01 COSM1457841 c.1134G>A p.E378E Substitution - coding silent 8:66152525-66152525 + TCGA-AG-3892-01 COSM258241 c.952G>T p.E318* Substitution - Nonsense 8:66150433-66150433 + TCGA-D5-6927-01 COSM1457839 c.784G>C p.V262L Substitution - Missense 8:66149825-66149825 + CSCC-19-T COSM4524994 c.1300G>T p.A434S Substitution - Missense 8:66154110-66154110 + TCGA-BS-A0UF-01 COSM1101056 c.1387A>G p.S463G Substitution - Missense 8:66154197-66154197 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.85445;Hs.85524 8q13.1 606469 2430636|CGAP|BC007750|C/T|non-coding||1628|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E336A c.1007A>C 8 67064633 BRCA A C Missense p.E369D c.1107A>C 8 67064733 RCCC A C Missense p.K240T c.719A>C 8 67061995 CM A C Missense p.K319T c.956A>C 8 67062672 ESCA AGAGGT - InFrameDeletion p.V359_E360delVE c.1074_1079delGGTAGA 8 67064697 ESCA A G Missense p.E369G c.1106A>G 8 67064732 CM A G Missense p.I509V c.1525A>G 8 67086706 CM A T Missense p.I537F c.1609A>T 8 67086790 LUAD A T Missense p.N372Y c.1114A>T 8 67064740 CM C A Missense p.P115Q c.344C>A 8 67047227 HNSC C A Missense p.S145Y c.434C>A 8 67047317 LUSC C A Missense p.S541Y c.1622C>A 8 67086803 CM C A Synonymous p.I104I c.312C>A 8 67040682 BRCA C A Synonymous p.P122P c.366C>A 8 67047249 RCCC C G Missense p.P388R c.1163C>G 8 67064789 CM C G Missense p.Q519E c.1555C>G 8 67086736 NB C G Missense p.T16S c.47C>G 8 67039550 HNSC C G Nonsense p.S292* c.875C>G 8 67062591 BRCA C T 5-UTRSNV . c.1-116C>T 8 67039388 HC C T 5-UTRSNV . c.1-30C>T 8 67039474 CM C T 5-UTRSNV . c.1-31C>T 8 67039473 CM C T Missense p.A432V c.1295C>T 8 67066340 UCEC C T Missense p.A437V c.1310C>T 8 67066355 CLL C T Missense p.A489V c.1466C>T 8 67066511 COREAD C T Missense p.A522V c.1565C>T 8 67086746 CM C T Missense p.H90Y c.268C>T 8 67040638 LUSC C T Missense p.P439S c.1315C>T 8 67066360 COREAD C T Missense p.P514S c.1540C>T 8 67086721 STAD C T Missense p.R480W c.1438C>T 8 67066483 COREAD C T Missense p.S394F c.1181C>T 8 67064807 CM C T Missense p.S395F c.1184C>T 8 67064810 ALL C T Missense p.S477L c.1430C>T 8 67066475 CM C T Missense p.S539F c.1616C>T 8 67086797 CM C T Synonymous p.A177A c.531C>T 8 67049353 STAD C T Synonymous p.C139C c.417C>T 8 67047300 LUSC C T Synonymous p.F55F c.165C>T 8 67039668 CM C T Synonymous p.I104I c.312C>T 8 67040682 CM C T Synonymous p.L278L c.832C>T 8 67062108 CM C T Synonymous p.T283T c.849C>T 8 67062463 CM G A 5-UTRSNV . c.1-13G>A 8 67039491 CM G A Missense p.A482T c.1444G>A 8 67066489 CM G A Missense p.D195N c.583G>A 8 67049405 CM G A Missense p.E102K c.304G>A 8 67040674 CM G A Missense p.E323K c.967G>A 8 67062683 CM G A Missense p.E333K c.997G>A 8 67064623 CM G A Missense p.E499K c.1495G>A 8 67066540 CM G A Missense p.G265E c.794G>A 8 67062070 CM G A Missense p.G339R c.1015G>A 8 67064641 STAD G A Missense p.G350R c.1048G>A 8 67064674 CM G A Missense p.G368E c.1103G>A 8 67064729 CM G A Missense p.G448D c.1343G>A 8 67066388 CM G A Missense p.G448S c.1342G>A 8 67066387 CM G A Missense p.G467R c.1399G>A 8 67066444 CM G A Missense p.M297I c.891G>A 8 67062607 CM G A Missense p.R451Q c.1352G>A 8 67066397 COREAD G A Missense p.R480Q c.1439G>A 8 67066484 CM G A Missense p.R535H c.1604G>A 8 67086785 GBM G A Synonymous p.P60P c.180G>A 8 67040550 LUSC G A Synonymous p.Q166Q c.498G>A 8 67047381 CM G A Synonymous p.Q207Q c.621G>A 8 67061897 CM G A Synonymous p.R480R c.1440G>A 8 67066485 CM G A Synonymous p.R48R c.144G>A 8 67039647 CM G A Synonymous p.V38V c.114G>A 8 67039617 OV G C Missense p.E512Q c.1534G>C 8 67086715 BLCA GG AT SpliceDonorBlockSubstitution . c.1236_1236+1delinsAT 8 67064862 LUAD G T Missense p.A71S c.211G>T 8 67040581 GBM G T Missense p.M229I c.687G>T 8 67061963 HNSC G T Nonsense p.E273* c.817G>T 8 67062093 GBM G T Synonymous p.L46L c.138G>T 8 67039641 HNSC T A Missense p.M307K c.920T>A 8 67062636 LUAD T C Synonymous p.C81C c.243T>C 8 67040613 BLCA T G SpliceDonorSNV . c.1524+2T>G 8 67066571 HNSC