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 101299882 101299882 + Missense_Mutation SNP A A G TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr8:101299882A>G c.521T>C c.(520-522)aTt>aCt p.I174T BLCA 8 101270861 101270861 + Missense_Mutation SNP C C T TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr8:101270861C>T c.2440G>A c.(2440-2442)Gat>Aat p.D814N BLCA 8 101270861 101270861 + Missense_Mutation SNP C C T TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr8:101270861C>T c.2440G>A c.(2440-2442)Gat>Aat p.D814N BLCA 8 101270947 101270947 + Missense_Mutation SNP G G C TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr8:101270947G>C c.2354C>G c.(2353-2355)tCc>tGc p.S785C BLCA 8 101270981 101270981 + Nonsense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr8:101270981G>A c.2320C>T c.(2320-2322)Cag>Tag p.Q774* BLCA 8 101271100 101271100 + Missense_Mutation SNP G G C TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr8:101271100G>C c.2201C>G c.(2200-2202)tCt>tGt p.S734C BLCA 8 101271122 101271122 + Missense_Mutation SNP G G C TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr8:101271122G>C c.2179C>G c.(2179-2181)Cat>Gat p.H727D BLCA 8 101271310 101271310 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr8:101271310G>A c.1991C>T c.(1990-1992)tCc>tTc p.S664F BLCA 8 101271436 101271436 + Nonsense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr8:101271436G>C c.1865C>G c.(1864-1866)tCa>tGa p.S622* BLCA 8 101273804 101273804 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chr8:101273804G>C c.1648C>G c.(1648-1650)Ctg>Gtg p.L550V BLCA 8 101273810 101273810 + Missense_Mutation SNP C C A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chr8:101273810C>A c.1642G>T c.(1642-1644)Ggg>Tgg p.G548W BLCA 8 101276292 101276292 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr8:101276292T>C c.1438A>G c.(1438-1440)Ata>Gta p.I480V BLCA 8 101276363 101276363 + Missense_Mutation SNP C C T TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr8:101276363C>T c.1367G>A c.(1366-1368)cGa>cAa p.R456Q BLCA 8 101276911 101276911 + Missense_Mutation SNP C C T TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr8:101276911C>T c.1294G>A c.(1294-1296)Gca>Aca p.A432T BLCA 8 101299924 101299924 + Missense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr8:101299924C>T c.479G>A c.(478-480)cGa>cAa p.R160Q BLCA 8 101299952 101299952 + Missense_Mutation SNP G G C TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr8:101299952G>C c.451C>G c.(451-453)Cat>Gat p.H151D BLCA 8 101300012 101300012 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr8:101300012C>T c.391G>A c.(391-393)Gag>Aag p.E131K BLCA 8 101300254 101300254 + Missense_Mutation SNP G G A TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr8:101300254G>A c.149C>T c.(148-150)tCt>tTt p.S50F BLCA 8 101300254 101300254 + Missense_Mutation SNP G G A TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr8:101300254G>A c.149C>T c.(148-150)tCt>tTt p.S50F BLCA 8 101300263 101300263 + Missense_Mutation SNP G G A TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr8:101300263G>A c.140C>T c.(139-141)tCt>tTt p.S47F BLCA 8 101300374 101300374 + Missense_Mutation SNP G G C TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr8:101300374G>C c.29C>G c.(28-30)tCt>tGt p.S10C BRCA 8 101271360 101271360 + Silent SNP G G C TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 g.chr8:101271360G>C c.1941C>G c.(1939-1941)ggC>ggG p.G647G BRCA 8 101271468 101271468 + Silent SNP G G A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 g.chr8:101271468G>A c.1833C>T c.(1831-1833)ggC>ggT p.G611G BRCA 8 101272137 101272137 + Missense_Mutation SNP C C T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 g.chr8:101272137C>T c.1771G>A c.(1771-1773)Gcc>Acc p.A591T BRCA 8 101272152 101272152 + Missense_Mutation SNP T T C TCGA-AO-A0J9-01A-11W-A050-09 TCGA-AO-A0J9-10A-01W-A055-09 g.chr8:101272152T>C c.1756A>G c.(1756-1758)Aca>Gca p.T586A BRCA 8 101273925 101273925 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr8:101273925A>C c.1527T>G c.(1525-1527)ggT>ggG p.G509G BRCA 8 101273937 101273937 + Missense_Mutation SNP C C G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 g.chr8:101273937C>G c.1515G>C c.(1513-1515)gaG>gaC p.E505D BRCA 8 101276385 101276385 + Missense_Mutation SNP C C T TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr8:101276385C>T c.1345G>A c.(1345-1347)Gta>Ata p.V449I BRCA 8 101300149 101300149 + Missense_Mutation SNP T T G TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 g.chr8:101300149T>G c.254A>C c.(253-255)aAt>aCt p.N85T CESC 8 101270981 101270981 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr8:101270981G>C c.2320C>G c.(2320-2322)Cag>Gag p.Q774E CESC 8 101273866 101273866 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 g.chr8:101273866C>T c.1586G>A c.(1585-1587)cGa>cAa p.R529Q CESC 8 101300374 101300374 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 g.chr8:101300374G>C c.29C>G c.(28-30)tCt>tGt p.S10C COAD 8 101271192 101271192 + Silent SNP C C T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr8:101271192C>T c.2109G>A c.(2107-2109)acG>acA p.T703T COAD 8 101272180 101272180 + Missense_Mutation SNP A A C TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr8:101272180A>C c.1728T>G c.(1726-1728)agT>agG p.S576R COAD 8 101272206 101272206 + Missense_Mutation SNP C C A TCGA-AA-3562-01A-02W-0831-10 TCGA-AA-3562-10A-01W-0831-10 g.chr8:101272206C>A c.1702G>T c.(1702-1704)Gta>Tta p.V568L COAD 8 101277003 101277003 + Missense_Mutation SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr8:101277003C>T c.1202G>A c.(1201-1203)cGc>cAc p.R401H COAD 8 101299869 101299869 + Silent SNP T T C TCGA-CM-6676-01A-11D-1835-10 TCGA-CM-6676-10A-01D-1835-10 g.chr8:101299869T>C c.534A>G c.(532-534)gaA>gaG p.E178E COAD 8 101299869 101299869 + Silent SNP T T C TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr8:101299869T>C c.534A>G c.(532-534)gaA>gaG p.E178E COAD 8 101299870 101299870 + Missense_Mutation SNP T T C TCGA-CM-5863-01A-21D-1835-10 TCGA-CM-5863-10A-01D-1835-10 g.chr8:101299870T>C c.533A>G c.(532-534)gAa>gGa p.E178G COAD 8 101299932 101299932 + Silent SNP A A G TCGA-A6-2671-01A-01D-1408-10 TCGA-A6-2671-10A-01D-1408-10 g.chr8:101299932A>G c.471T>C c.(469-471)gaT>gaC p.D157D COAD 8 101299934 101299934 + Missense_Mutation SNP C C T TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr8:101299934C>T c.469G>A c.(469-471)Gat>Aat p.D157N COAD 8 101300215 101300215 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:101300215C>A c.188G>T c.(187-189)aGa>aTa p.R63I COADREAD 8 101271192 101271192 + Silent SNP C C T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr8:101271192C>T c.2109G>A c.(2107-2109)acG>acA p.T703T COADREAD 8 101271373 101271373 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:101271373C>T c.1928G>A c.(1927-1929)cGa>cAa p.R643Q COADREAD 8 101272180 101272180 + Missense_Mutation SNP A A C TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr8:101272180A>C c.1728T>G c.(1726-1728)agT>agG p.S576R COADREAD 8 101272206 101272206 + Missense_Mutation SNP C C A TCGA-AA-3562-01A-02W-0831-10 TCGA-AA-3562-10A-01W-0831-10 g.chr8:101272206C>A c.1702G>T c.(1702-1704)Gta>Tta p.V568L COADREAD 8 101277003 101277003 + Missense_Mutation SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr8:101277003C>T c.1202G>A c.(1201-1203)cGc>cAc p.R401H COADREAD 8 101282122 101282122 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:101282122C>T c.1003G>A c.(1003-1005)Gaa>Aaa p.E335K COADREAD 8 101287231 101287231 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:101287231C>A c.833G>T c.(832-834)aGa>aTa p.R278I COADREAD 8 101299869 101299869 + Silent SNP T T C TCGA-AG-3731-01A-11D-1733-10 TCGA-AG-3731-11A-01D-1733-10 g.chr8:101299869T>C c.534A>G c.(532-534)gaA>gaG p.E178E COADREAD 8 101299869 101299869 + Silent SNP T T C TCGA-CM-6676-01A-11D-1835-10 TCGA-CM-6676-10A-01D-1835-10 g.chr8:101299869T>C c.534A>G c.(532-534)gaA>gaG p.E178E COADREAD 8 101299869 101299869 + Silent SNP T T C TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr8:101299869T>C c.534A>G c.(532-534)gaA>gaG p.E178E COADREAD 8 101299870 101299870 + Missense_Mutation SNP T T C TCGA-CM-5863-01A-21D-1835-10 TCGA-CM-5863-10A-01D-1835-10 g.chr8:101299870T>C c.533A>G c.(532-534)gAa>gGa p.E178G COADREAD 8 101299932 101299932 + Silent SNP A A G TCGA-A6-2671-01A-01D-1408-10 TCGA-A6-2671-10A-01D-1408-10 g.chr8:101299932A>G c.471T>C c.(469-471)gaT>gaC p.D157D COADREAD 8 101299932 101299932 + Silent SNP A A G TCGA-F5-6571-01A-12D-1826-10 TCGA-F5-6571-10A-01D-1826-10 g.chr8:101299932A>G c.471T>C c.(469-471)gaT>gaC p.D157D COADREAD 8 101299934 101299934 + Missense_Mutation SNP C C A TCGA-EI-6506-01A-11D-1733-10 TCGA-EI-6506-10A-01D-1733-10 g.chr8:101299934C>A c.469G>T c.(469-471)Gat>Tat p.D157Y COADREAD 8 101299934 101299934 + Missense_Mutation SNP C C T TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr8:101299934C>T c.469G>A c.(469-471)Gat>Aat p.D157N COADREAD 8 101300215 101300215 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:101300215C>A c.188G>T c.(187-189)aGa>aTa p.R63I DLBC 8 101276899 101276899 + Splice_Site SNP C C T TCGA-GS-A9TV-01A-11D-A382-10 TCGA-GS-A9TV-10A-01D-A385-10 g.chr8:101276899C>T c.1306G>A c.(1306-1308)Ggt>Agt p.G436S ESCA 8 101276403 101276403 + Missense_Mutation SNP A A C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 g.chr8:101276403A>C c.1327T>G c.(1327-1329)Tta>Gta p.L443V ESCA 8 101277003 101277003 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr8:101277003C>T c.1202G>A c.(1201-1203)cGc>cAc p.R401H ESCA 8 101300299 101300299 + Missense_Mutation SNP T T C TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 g.chr8:101300299T>C c.104A>G c.(103-105)cAt>cGt p.H35R GBM 8 101273881 101273881 + Missense_Mutation SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 g.chr8:101273881C>T c.1571G>A c.(1570-1572)cGa>cAa p.R524Q GBMLGG 8 101273881 101273881 + Missense_Mutation SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 g.chr8:101273881C>T c.1571G>A c.(1570-1572)cGa>cAa p.R524Q GBMLGG 8 101287223 101287223 + Missense_Mutation SNP G G A TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 g.chr8:101287223G>A c.841C>T c.(841-843)Cgt>Tgt p.R281C GBMLGG 8 101287238 101287238 + Missense_Mutation SNP G G A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 g.chr8:101287238G>A c.826C>T c.(826-828)Cgt>Tgt p.R276C GBMLGG 8 101299988 101299988 + Missense_Mutation SNP G G C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:101299988G>C c.415C>G c.(415-417)Cat>Gat p.H139D HNSC 8 101273978 101273978 + Missense_Mutation SNP T T C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 g.chr8:101273978T>C c.1474A>G c.(1474-1476)Aca>Gca p.T492A HNSC 8 101276908 101276908 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 g.chr8:101276908C>T c.1297G>A c.(1297-1299)Gtg>Atg p.V433M HNSC 8 101287254 101287254 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 g.chr8:101287254C>G c.810G>C c.(808-810)gaG>gaC p.E270D HNSC 8 101299760 101299760 + Missense_Mutation SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 g.chr8:101299760C>T c.643G>A c.(643-645)Gat>Aat p.D215N HNSC 8 101299799 101299799 + Missense_Mutation SNP C C T TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 g.chr8:101299799C>T c.604G>A c.(604-606)Gaa>Aaa p.E202K HNSC 8 101299800 101299800 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 g.chr8:101299800G>A c.603C>T c.(601-603)taC>taT p.Y201Y HNSC 8 101299997 101299997 + Missense_Mutation SNP G G C TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr8:101299997G>C c.406C>G c.(406-408)Ctt>Gtt p.L136V HNSC 8 101300145 101300145 + Silent SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 g.chr8:101300145G>A c.258C>T c.(256-258)ggC>ggT p.G86G KIPAN 8 101271242 101271242 + Missense_Mutation SNP T T C TCGA-B0-4841-01A-01D-1361-10 TCGA-B0-4841-11A-01D-1361-10 g.chr8:101271242T>C c.2059A>G c.(2059-2061)Aat>Gat p.N687D KIPAN 8 101273971 101273971 + Missense_Mutation SNP A A G TCGA-2Z-A9J5-01A-21D-A382-10 TCGA-2Z-A9J5-10A-01D-A385-10 g.chr8:101273971A>G c.1481T>C c.(1480-1482)gTa>gCa p.V494A KIPAN 8 101276971 101276971 + Missense_Mutation SNP G G A TCGA-B9-A44B-01A-11D-A25F-10 TCGA-B9-A44B-10A-01D-A25F-10 g.chr8:101276971G>A c.1234C>T c.(1234-1236)Cgg>Tgg p.R412W KIPAN 8 101299802 101299803 + Frame_Shift_Ins INS - - T TCGA-UZ-A9PJ-01A-11D-A382-10 TCGA-UZ-A9PJ-10A-01D-A385-10 g.chr8:101299802_101299803insT c.600_601insA c.(598-603)aaatacfs p.Y201fs KIPAN 8 101299911 101299911 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr8:101299911C>T c.492G>A c.(490-492)agG>agA p.R164R KIPAN 8 101300044 101300044 + Missense_Mutation SNP G G C TCGA-5P-A9K3-01A-11D-A42J-10 TCGA-5P-A9K3-10A-01D-A42M-10 g.chr8:101300044G>C c.359C>G c.(358-360)aCt>aGt p.T120S KIRC 8 101271242 101271242 + Missense_Mutation SNP T T C TCGA-B0-4841-01A-01D-1361-10 TCGA-B0-4841-11A-01D-1361-10 g.chr8:101271242T>C c.2059A>G c.(2059-2061)Aat>Gat p.N687D KIRC 8 101299911 101299911 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr8:101299911C>T c.492G>A c.(490-492)agG>agA p.R164R KIRP 8 101273971 101273971 + Missense_Mutation SNP A A G TCGA-2Z-A9J5-01A-21D-A382-10 TCGA-2Z-A9J5-10A-01D-A385-10 g.chr8:101273971A>G c.1481T>C c.(1480-1482)gTa>gCa p.V494A KIRP 8 101276971 101276971 + Missense_Mutation SNP G G A TCGA-B9-A44B-01A-11D-A25F-10 TCGA-B9-A44B-10A-01D-A25F-10 g.chr8:101276971G>A c.1234C>T c.(1234-1236)Cgg>Tgg p.R412W KIRP 8 101299802 101299803 + Frame_Shift_Ins INS - - T TCGA-UZ-A9PJ-01A-11D-A382-10 TCGA-UZ-A9PJ-10A-01D-A385-10 g.chr8:101299802_101299803insT c.600_601insA c.(598-603)aaatacfs p.Y201fs KIRP 8 101300044 101300044 + Missense_Mutation SNP G G C TCGA-5P-A9K3-01A-11D-A42J-10 TCGA-5P-A9K3-10A-01D-A42M-10 g.chr8:101300044G>C c.359C>G c.(358-360)aCt>aGt p.T120S LGG 8 101287223 101287223 + Missense_Mutation SNP G G A TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 g.chr8:101287223G>A c.841C>T c.(841-843)Cgt>Tgt p.R281C LGG 8 101287238 101287238 + Missense_Mutation SNP G G A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 g.chr8:101287238G>A c.826C>T c.(826-828)Cgt>Tgt p.R276C LGG 8 101299988 101299988 + Missense_Mutation SNP G G C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:101299988G>C c.415C>G c.(415-417)Cat>Gat p.H139D LIHC 8 101271049 101271049 + Missense_Mutation SNP T T C TCGA-BC-A3KF-01A-11D-A20W-10 TCGA-BC-A3KF-10A-01D-A20W-10 g.chr8:101271049T>C c.2252A>G c.(2251-2253)cAc>cGc p.H751R LIHC 8 101271389 101271389 + Missense_Mutation SNP C C A TCGA-DD-A4NV-01A-11D-A30V-10 TCGA-DD-A4NV-10A-01D-A30V-10 g.chr8:101271389C>A c.1912G>T c.(1912-1914)Gat>Tat p.D638Y LIHC 8 101276968 101276968 + Missense_Mutation SNP T T G TCGA-ZS-A9CF-01A-11D-A382-10 TCGA-ZS-A9CF-10A-01D-A385-10 g.chr8:101276968T>G c.1237A>C c.(1237-1239)Aat>Cat p.N413H LIHC 8 101287279 101287279 + Missense_Mutation SNP T T A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr8:101287279T>A c.785A>T c.(784-786)cAg>cTg p.Q262L LUAD 8 101271092 101271092 + Missense_Mutation SNP C C G TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr8:101271092C>G c.2209G>C c.(2209-2211)Gaa>Caa p.E737Q LUAD 8 101271259 101271259 + Missense_Mutation SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr8:101271259T>C c.2042A>G c.(2041-2043)aAg>aGg p.K681R LUAD 8 101276266 101276266 + Silent SNP A A C TCGA-64-5815-01A-01D-1625-08 TCGA-64-5815-10A-01D-1625-08 g.chr8:101276266A>C c.1464T>G c.(1462-1464)gcT>gcG p.A488A LUAD 8 101276385 101276385 + Missense_Mutation SNP C C T TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr8:101276385C>T c.1345G>A c.(1345-1347)Gta>Ata p.V449I LUAD 8 101287227 101287227 + Silent SNP A A G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 g.chr8:101287227A>G c.837T>C c.(835-837)acT>acC p.T279T LUSC 8 101270912 101270912 + Missense_Mutation SNP C C T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 g.chr8:101270912C>T c.2389G>A c.(2389-2391)Gaa>Aaa p.E797K LUSC 8 101271234 101271234 + Silent SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr8:101271234C>A c.2067G>T c.(2065-2067)acG>acT p.T689T LUSC 8 101281076 101281076 + Silent SNP A A C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 g.chr8:101281076A>C c.1128T>G c.(1126-1128)gcT>gcG p.A376A LUSC 8 101287334 101287334 + Missense_Mutation SNP C C G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 g.chr8:101287334C>G c.730G>C c.(730-732)Gag>Cag p.E244Q OV 8 101282199 101282199 + Missense_Mutation SNP A A T TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 g.chr8:101282199A>T c.926T>A c.(925-927)aTa>aAa p.I309K OV 8 101299871 101299871 + Missense_Mutation SNP C C T TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 g.chr8:101299871C>T c.532G>A c.(532-534)Gaa>Aaa p.E178K OV 8 101300147 101300147 + Missense_Mutation SNP C C A TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 g.chr8:101300147C>A c.256G>T c.(256-258)Ggc>Tgc p.G86C PAAD 8 101271380 101271380 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:101271380C>T c.1921G>A c.(1921-1923)Gcc>Acc p.A641T PAAD 8 101276930 101276930 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr8:101276930G>T c.1275C>A c.(1273-1275)atC>atA p.I425I PAAD 8 101299991 101299991 + Missense_Mutation SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 g.chr8:101299991G>A c.412C>T c.(412-414)Cgg>Tgg p.R138W PAAD 8 101299991 101299991 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 g.chr8:101299991G>A c.412C>T c.(412-414)Cgg>Tgg p.R138W PCPG 8 101281047 101281047 + Missense_Mutation SNP A A G TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 g.chr8:101281047A>G c.1157T>C c.(1156-1158)aTg>aCg p.M386T READ 8 101271373 101271373 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:101271373C>T c.1928G>A c.(1927-1929)cGa>cAa p.R643Q READ 8 101282122 101282122 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:101282122C>T c.1003G>A c.(1003-1005)Gaa>Aaa p.E335K READ 8 101287231 101287231 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:101287231C>A c.833G>T c.(832-834)aGa>aTa p.R278I READ 8 101299869 101299869 + Silent SNP T T C TCGA-AG-3731-01A-11D-1733-10 TCGA-AG-3731-11A-01D-1733-10 g.chr8:101299869T>C c.534A>G c.(532-534)gaA>gaG p.E178E READ 8 101299932 101299932 + Silent SNP A A G TCGA-F5-6571-01A-12D-1826-10 TCGA-F5-6571-10A-01D-1826-10 g.chr8:101299932A>G c.471T>C c.(469-471)gaT>gaC p.D157D READ 8 101299934 101299934 + Missense_Mutation SNP C C A TCGA-EI-6506-01A-11D-1733-10 TCGA-EI-6506-10A-01D-1733-10 g.chr8:101299934C>A c.469G>T c.(469-471)Gat>Tat p.D157Y SKCM 8 101270989 101270989 + Missense_Mutation SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr8:101270989G>A c.2312C>T c.(2311-2313)tCc>tTc p.S771F SKCM 8 101276378 101276378 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr8:101276378G>A c.1352C>T c.(1351-1353)cCa>cTa p.P451L SKCM 8 101282222 101282222 + Nonsense_Mutation SNP A A T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr8:101282222A>T c.903T>A c.(901-903)tgT>tgA p.C301* SKCM 8 101300126 101300126 + Missense_Mutation SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr8:101300126T>C c.277A>G c.(277-279)Agt>Ggt p.S93G SKCM 8 101300197 101300197 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 g.chr8:101300197G>A c.206C>T c.(205-207)tCc>tTc p.S69F SKCM 8 101300206 101300206 + Missense_Mutation SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr8:101300206G>A c.197C>T c.(196-198)tCa>tTa p.S66L SKCM 8 101300387 101300387 + Missense_Mutation SNP T T A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 g.chr8:101300387T>A c.16A>T c.(16-18)Ata>Tta p.I6L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 8 101282239 101282239 single base substitution C T missense_variant D296N 886G>A BLCA-CN 8 101282239 101282239 single base substitution C T splice_region_variant BLCA-CN 8 101282239 101282239 single base substitution C T upstream_gene_variant BLCA-CN 8 101299844 101299844 single base substitution C T downstream_gene_variant BLCA-CN 8 101299844 101299844 single base substitution C T missense_variant D187N 559G>A BLCA-CN 8 101299984 101299984 single base substitution G C downstream_gene_variant BLCA-CN 8 101299984 101299984 single base substitution G C missense_variant S140C 419C>G BLCA-CN 8 101300074 101300074 single base substitution G A downstream_gene_variant BLCA-CN 8 101300074 101300074 single base substitution G A missense_variant S110F 329C>T BLCA-US 8 101270981 101270981 single base substitution G A downstream_gene_variant BLCA-US 8 101270981 101270981 single base substitution G A stop_gained Q774* 2320C>T BLCA-US 8 101271310 101271310 single base substitution G A downstream_gene_variant BLCA-US 8 101271310 101271310 single base substitution G A exon_variant BLCA-US 8 101271310 101271310 single base substitution G A missense_variant S664F 1991C>T BLCA-US 8 101300012 101300012 single base substitution C T downstream_gene_variant BLCA-US 8 101300012 101300012 single base substitution C T missense_variant E131K 391G>A BRCA-EU 8 101265374 101265374 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 101265863 101265863 single base substitution C A downstream_gene_variant BRCA-EU 8 101266504 101266504 single base substitution C A downstream_gene_variant BRCA-EU 8 101266892 101266892 single base substitution G C downstream_gene_variant BRCA-EU 8 101267697 101267697 single base substitution A G downstream_gene_variant BRCA-EU 8 101268190 101268190 single base substitution G C downstream_gene_variant BRCA-EU 8 101268194 101268194 single base substitution G C downstream_gene_variant BRCA-EU 8 101268599 101268599 single base substitution C T downstream_gene_variant BRCA-EU 8 101269258 101269258 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 101269472 101269472 single base substitution C T 3_prime_UTR_variant BRCA-EU 8 101269472 101269472 single base substitution C T downstream_gene_variant BRCA-EU 8 101269775 101269775 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 101269775 101269775 single base substitution G A downstream_gene_variant BRCA-EU 8 101270122 101270122 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 8 101270122 101270122 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 101270534 101270535 deletion of <=200bp AC - 3_prime_UTR_variant BRCA-EU 8 101270534 101270535 deletion of <=200bp AC - downstream_gene_variant BRCA-EU 8 101270979 101270979 single base substitution C T downstream_gene_variant BRCA-EU 8 101270979 101270979 single base substitution C T synonymous_variant Q774Q 2322G>A BRCA-EU 8 101271200 101271200 single base substitution G C downstream_gene_variant BRCA-EU 8 101271200 101271200 single base substitution G C exon_variant BRCA-EU 8 101271200 101271200 single base substitution G C missense_variant Q701E 2101C>G BRCA-EU 8 101271239 101271239 single base substitution C T downstream_gene_variant BRCA-EU 8 101271239 101271239 single base substitution C T exon_variant BRCA-EU 8 101271239 101271239 single base substitution C T missense_variant E688K 2062G>A BRCA-EU 8 101272370 101272370 single base substitution A C downstream_gene_variant BRCA-EU 8 101272370 101272370 single base substitution A C intron_variant BRCA-EU 8 101272370 101272370 single base substitution A C upstream_gene_variant BRCA-EU 8 101272652 101272652 single base substitution T C downstream_gene_variant BRCA-EU 8 101272652 101272652 single base substitution T C intron_variant BRCA-EU 8 101272652 101272652 single base substitution T C upstream_gene_variant BRCA-EU 8 101275360 101275360 single base substitution G C intron_variant BRCA-EU 8 101275360 101275360 single base substitution G C upstream_gene_variant BRCA-EU 8 101276061 101276061 single base substitution G A downstream_gene_variant BRCA-EU 8 101276061 101276061 single base substitution G A intron_variant BRCA-EU 8 101276061 101276061 single base substitution G A upstream_gene_variant BRCA-EU 8 101276714 101276714 single base substitution C T downstream_gene_variant BRCA-EU 8 101276714 101276714 single base substitution C T exon_variant BRCA-EU 8 101276714 101276714 single base substitution C T intron_variant BRCA-EU 8 101276714 101276714 single base substitution C T upstream_gene_variant BRCA-EU 8 101276894 101276894 single base substitution C T downstream_gene_variant BRCA-EU 8 101276894 101276894 single base substitution C T splice_region_variant BRCA-EU 8 101276894 101276894 single base substitution C T upstream_gene_variant BRCA-EU 8 101277041 101277041 single base substitution G C downstream_gene_variant BRCA-EU 8 101277041 101277041 single base substitution G C intron_variant BRCA-EU 8 101277041 101277041 single base substitution G C upstream_gene_variant BRCA-EU 8 101277845 101277845 single base substitution C T downstream_gene_variant BRCA-EU 8 101277845 101277845 single base substitution C T intron_variant BRCA-EU 8 101277845 101277845 single base substitution C T upstream_gene_variant BRCA-EU 8 101280579 101280579 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 101280579 101280579 deletion of <=200bp A - intron_variant BRCA-EU 8 101280579 101280579 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 101280978 101280978 single base substitution T C exon_variant BRCA-EU 8 101280978 101280978 single base substitution T C intron_variant BRCA-EU 8 101280978 101280978 single base substitution T C upstream_gene_variant BRCA-EU 8 101283738 101283738 single base substitution A G intron_variant BRCA-EU 8 101283738 101283738 single base substitution A G upstream_gene_variant BRCA-EU 8 101284351 101284351 single base substitution T G intron_variant BRCA-EU 8 101284351 101284351 single base substitution T G upstream_gene_variant BRCA-EU 8 101285812 101285812 single base substitution T C intron_variant BRCA-EU 8 101285812 101285812 single base substitution T C upstream_gene_variant BRCA-EU 8 101286273 101286273 deletion of <=200bp A - intron_variant BRCA-EU 8 101287017 101287017 single base substitution G C intron_variant BRCA-EU 8 101287053 101287053 single base substitution T C intron_variant BRCA-EU 8 101288671 101288671 single base substitution T A intron_variant BRCA-EU 8 101288671 101288671 single base substitution T A upstream_gene_variant BRCA-EU 8 101289549 101289549 deletion of <=200bp T - intron_variant BRCA-EU 8 101289549 101289549 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 101290589 101290589 single base substitution T A intron_variant BRCA-EU 8 101290589 101290589 single base substitution T A upstream_gene_variant BRCA-EU 8 101290799 101290799 single base substitution T C intron_variant BRCA-EU 8 101290799 101290799 single base substitution T C upstream_gene_variant BRCA-EU 8 101290934 101290934 single base substitution A G intron_variant BRCA-EU 8 101290934 101290934 single base substitution A G upstream_gene_variant BRCA-EU 8 101295692 101295692 single base substitution C T downstream_gene_variant BRCA-EU 8 101295692 101295692 single base substitution C T intron_variant BRCA-EU 8 101295889 101295889 single base substitution T C downstream_gene_variant BRCA-EU 8 101295889 101295889 single base substitution T C intron_variant BRCA-EU 8 101296311 101296311 single base substitution A T downstream_gene_variant BRCA-EU 8 101296311 101296311 single base substitution A T intron_variant BRCA-EU 8 101296892 101296892 single base substitution A T downstream_gene_variant BRCA-EU 8 101296892 101296892 single base substitution A T intron_variant BRCA-EU 8 101297081 101297081 single base substitution G A downstream_gene_variant BRCA-EU 8 101297081 101297081 single base substitution G A intron_variant BRCA-EU 8 101297215 101297215 single base substitution C T downstream_gene_variant BRCA-EU 8 101297215 101297215 single base substitution C T intron_variant BRCA-EU 8 101297850 101297850 single base substitution T A downstream_gene_variant BRCA-EU 8 101297850 101297850 single base substitution T A intron_variant BRCA-EU 8 101297879 101297879 single base substitution A T downstream_gene_variant BRCA-EU 8 101297879 101297879 single base substitution A T intron_variant BRCA-EU 8 101297923 101297923 single base substitution C G downstream_gene_variant BRCA-EU 8 101297923 101297923 single base substitution C G intron_variant BRCA-EU 8 101298390 101298390 single base substitution C G downstream_gene_variant BRCA-EU 8 101298390 101298390 single base substitution C G intron_variant BRCA-EU 8 101299257 101299257 single base substitution C T downstream_gene_variant BRCA-EU 8 101299257 101299257 single base substitution C T intron_variant BRCA-EU 8 101300376 101300376 single base substitution G C intron_variant BRCA-EU 8 101300376 101300376 single base substitution G C missense_variant I9M 27C>G BRCA-EU 8 101302045 101302045 single base substitution C G intron_variant BRCA-EU 8 101302113 101302113 single base substitution C A intron_variant BRCA-EU 8 101302731 101302731 single base substitution A G intron_variant BRCA-EU 8 101302908 101302908 single base substitution A G intron_variant BRCA-EU 8 101306305 101306305 single base substitution C T intron_variant BRCA-EU 8 101307018 101307018 single base substitution T C intron_variant BRCA-EU 8 101307900 101307900 single base substitution G C downstream_gene_variant BRCA-EU 8 101307900 101307900 single base substitution G C intron_variant BRCA-EU 8 101307907 101307907 insertion of <=200bp - A downstream_gene_variant BRCA-EU 8 101307907 101307907 insertion of <=200bp - A intron_variant BRCA-EU 8 101307963 101307963 single base substitution C T downstream_gene_variant BRCA-EU 8 101307963 101307963 single base substitution C T intron_variant BRCA-EU 8 101308293 101308293 single base substitution C G downstream_gene_variant BRCA-EU 8 101308293 101308293 single base substitution C G intron_variant BRCA-EU 8 101308860 101308860 single base substitution C G downstream_gene_variant BRCA-EU 8 101308860 101308860 single base substitution C G intron_variant BRCA-EU 8 101312831 101312831 single base substitution T A 5_prime_UTR_variant BRCA-EU 8 101312831 101312831 single base substitution T A exon_variant BRCA-EU 8 101312831 101312831 single base substitution T A intron_variant BRCA-EU 8 101312883 101312883 deletion of <=200bp A - intron_variant BRCA-EU 8 101312883 101312883 deletion of <=200bp A - splice_region_variant BRCA-EU 8 101313903 101313903 single base substitution G C intron_variant BRCA-EU 8 101314236 101314240 deletion of <=200bp GAATA - intron_variant BRCA-EU 8 101314916 101314916 single base substitution G C intron_variant BRCA-EU 8 101315306 101315306 single base substitution T C intron_variant BRCA-EU 8 101315854 101315854 single base substitution C T intron_variant BRCA-EU 8 101315854 101315854 single base substitution C T upstream_gene_variant BRCA-EU 8 101318434 101318434 single base substitution C G intron_variant BRCA-EU 8 101318434 101318434 single base substitution C G upstream_gene_variant BRCA-EU 8 101319407 101319410 deletion of <=200bp CAGT - intron_variant BRCA-EU 8 101319407 101319410 deletion of <=200bp CAGT - upstream_gene_variant BRCA-EU 8 101320007 101320007 single base substitution G C intron_variant BRCA-EU 8 101320007 101320007 single base substitution G C upstream_gene_variant BRCA-EU 8 101320074 101320074 single base substitution G A intron_variant BRCA-EU 8 101320074 101320074 single base substitution G A upstream_gene_variant BRCA-EU 8 101321196 101321196 deletion of <=200bp T - intron_variant BRCA-EU 8 101322582 101322582 single base substitution C G intron_variant BRCA-EU 8 101322582 101322582 single base substitution C G upstream_gene_variant BRCA-EU 8 101323472 101323472 single base substitution G A intron_variant BRCA-EU 8 101323472 101323472 single base substitution G A upstream_gene_variant BRCA-EU 8 101323734 101323734 single base substitution C T intron_variant BRCA-EU 8 101323734 101323734 single base substitution C T upstream_gene_variant BRCA-EU 8 101324774 101324774 single base substitution C A intron_variant BRCA-EU 8 101324774 101324774 single base substitution C A upstream_gene_variant BRCA-EU 8 101325105 101325105 single base substitution G C intron_variant BRCA-EU 8 101325105 101325105 single base substitution G C upstream_gene_variant BRCA-EU 8 101325225 101325225 single base substitution G T intron_variant BRCA-EU 8 101325225 101325225 single base substitution G T upstream_gene_variant BRCA-EU 8 101325422 101325422 single base substitution T C intron_variant BRCA-EU 8 101325422 101325422 single base substitution T C upstream_gene_variant BRCA-EU 8 101325661 101325661 single base substitution G A intron_variant BRCA-EU 8 101325661 101325661 single base substitution G A upstream_gene_variant BRCA-EU 8 101326537 101326537 single base substitution G A intron_variant BRCA-EU 8 101326537 101326537 single base substitution G A upstream_gene_variant BRCA-EU 8 101327415 101327415 single base substitution C G intron_variant BRCA-EU 8 101327415 101327415 single base substitution C G upstream_gene_variant BRCA-EU 8 101327629 101327629 deletion of <=200bp A - intron_variant BRCA-EU 8 101328469 101328469 single base substitution C T intron_variant BRCA-EU 8 101331989 101331989 single base substitution C A intron_variant BRCA-EU 8 101332283 101332283 single base substitution C T intron_variant BRCA-EU 8 101334706 101334706 single base substitution A G intron_variant BRCA-EU 8 101335415 101335415 single base substitution G T intron_variant BRCA-EU 8 101336280 101336280 single base substitution G T intron_variant BRCA-EU 8 101337341 101337341 single base substitution G C intron_variant BRCA-EU 8 101337918 101337918 single base substitution G C intron_variant BRCA-EU 8 101339046 101339046 single base substitution A G intron_variant BRCA-EU 8 101339137 101339137 single base substitution T A intron_variant BRCA-EU 8 101339707 101339707 single base substitution C T intron_variant BRCA-EU 8 101340316 101340316 single base substitution G A intron_variant BRCA-EU 8 101340798 101340798 single base substitution C G intron_variant BRCA-EU 8 101345351 101345351 single base substitution G A intron_variant BRCA-EU 8 101346122 101346122 single base substitution A C intron_variant BRCA-EU 8 101346405 101346405 single base substitution C T intron_variant BRCA-EU 8 101346467 101346467 single base substitution C A intron_variant BRCA-EU 8 101347024 101347024 single base substitution G A intron_variant BRCA-EU 8 101347986 101347986 single base substitution C T intron_variant BRCA-EU 8 101349894 101349894 single base substitution G C upstream_gene_variant BRCA-EU 8 101350814 101350814 deletion of <=200bp C - upstream_gene_variant BRCA-EU 8 101350945 101350945 single base substitution C G upstream_gene_variant BRCA-EU 8 101351692 101351692 single base substitution A C upstream_gene_variant BRCA-EU 8 101351693 101351693 single base substitution G C upstream_gene_variant BRCA-EU 8 101351896 101351896 single base substitution G T upstream_gene_variant BRCA-EU 8 101353062 101353062 single base substitution A C upstream_gene_variant BRCA-FR 8 101268190 101268190 single base substitution G C downstream_gene_variant BRCA-FR 8 101271200 101271200 single base substitution G C downstream_gene_variant BRCA-FR 8 101271200 101271200 single base substitution G C exon_variant BRCA-FR 8 101271200 101271200 single base substitution G C missense_variant Q701E 2101C>G BRCA-FR 8 101277041 101277041 single base substitution G C downstream_gene_variant BRCA-FR 8 101277041 101277041 single base substitution G C intron_variant BRCA-FR 8 101277041 101277041 single base substitution G C upstream_gene_variant BRCA-FR 8 101283568 101283568 single base substitution G T intron_variant BRCA-FR 8 101283568 101283568 single base substitution G T upstream_gene_variant BRCA-FR 8 101314916 101314916 single base substitution G C intron_variant BRCA-UK 8 101270941 101270941 single base substitution G A downstream_gene_variant BRCA-UK 8 101270941 101270941 single base substitution G A missense_variant S787L 2360C>T BRCA-UK 8 101290799 101290799 single base substitution T C intron_variant BRCA-UK 8 101290799 101290799 single base substitution T C upstream_gene_variant BRCA-UK 8 101321196 101321196 deletion of <=200bp T - intron_variant BRCA-UK 8 101321728 101321728 single base substitution G T 5_prime_UTR_variant BRCA-UK 8 101321728 101321728 single base substitution G T intron_variant BRCA-UK 8 101337169 101337169 single base substitution C G intron_variant BRCA-UK 8 101337918 101337918 single base substitution G C intron_variant BRCA-UK 8 101346405 101346405 single base substitution C T intron_variant BRCA-UK 8 101347986 101347986 single base substitution C T intron_variant BRCA-US 8 101271360 101271360 single base substitution G C downstream_gene_variant BRCA-US 8 101271360 101271360 single base substitution G C exon_variant BRCA-US 8 101271360 101271360 single base substitution G C synonymous_variant G647G 1941C>G BRCA-US 8 101271468 101271468 single base substitution G A downstream_gene_variant BRCA-US 8 101271468 101271468 single base substitution G A exon_variant BRCA-US 8 101271468 101271468 single base substitution G A synonymous_variant G611G 1833C>T BRCA-US 8 101271477 101271477 single base substitution G T downstream_gene_variant BRCA-US 8 101271477 101271477 single base substitution G T intron_variant BRCA-US 8 101272137 101272137 single base substitution C T downstream_gene_variant BRCA-US 8 101272137 101272137 single base substitution C T exon_variant BRCA-US 8 101272137 101272137 single base substitution C T missense_variant A591T 1771G>A BRCA-US 8 101272152 101272152 single base substitution T C downstream_gene_variant BRCA-US 8 101272152 101272152 single base substitution T C exon_variant BRCA-US 8 101272152 101272152 single base substitution T C missense_variant T586A 1756A>G BRCA-US 8 101273925 101273925 single base substitution A C downstream_gene_variant BRCA-US 8 101273925 101273925 single base substitution A C exon_variant BRCA-US 8 101273925 101273925 single base substitution A C intron_variant BRCA-US 8 101273925 101273925 single base substitution A C synonymous_variant G509G 1527T>G BRCA-US 8 101273925 101273925 single base substitution A C upstream_gene_variant BRCA-US 8 101273937 101273937 single base substitution C G downstream_gene_variant BRCA-US 8 101273937 101273937 single base substitution C G exon_variant BRCA-US 8 101273937 101273937 single base substitution C G intron_variant BRCA-US 8 101273937 101273937 single base substitution C G missense_variant E505D 1515G>C BRCA-US 8 101273937 101273937 single base substitution C G upstream_gene_variant BRCA-US 8 101276385 101276385 single base substitution C T downstream_gene_variant BRCA-US 8 101276385 101276385 single base substitution C T exon_variant BRCA-US 8 101276385 101276385 single base substitution C T intron_variant BRCA-US 8 101276385 101276385 single base substitution C T missense_variant V449I 1345G>A BRCA-US 8 101276385 101276385 single base substitution C T upstream_gene_variant BRCA-US 8 101300149 101300149 single base substitution T G downstream_gene_variant BRCA-US 8 101300149 101300149 single base substitution T G missense_variant N54T 161A>C BRCA-US 8 101300149 101300149 single base substitution T G missense_variant N85T 254A>C BTCA-JP 8 101272194 101272194 single base substitution G A downstream_gene_variant BTCA-JP 8 101272194 101272194 single base substitution G A exon_variant BTCA-JP 8 101272194 101272194 single base substitution G A missense_variant R572W 1714C>T BTCA-JP 8 101281211 101281211 deletion of <=200bp A - intron_variant BTCA-JP 8 101281211 101281211 deletion of <=200bp A - upstream_gene_variant CESC-US 8 101270981 101270981 single base substitution G C downstream_gene_variant CESC-US 8 101270981 101270981 single base substitution G C missense_variant Q774E 2320C>G CESC-US 8 101273866 101273866 single base substitution C T downstream_gene_variant CESC-US 8 101273866 101273866 single base substitution C T exon_variant CESC-US 8 101273866 101273866 single base substitution C T intron_variant CESC-US 8 101273866 101273866 single base substitution C T missense_variant R529Q 1586G>A CESC-US 8 101273866 101273866 single base substitution C T upstream_gene_variant CESC-US 8 101300374 101300374 single base substitution G C intron_variant CESC-US 8 101300374 101300374 single base substitution G C missense_variant S10C 29C>G CLLE-ES 8 101275961 101275961 single base substitution G A downstream_gene_variant CLLE-ES 8 101275961 101275961 single base substitution G A intron_variant CLLE-ES 8 101275961 101275961 single base substitution G A upstream_gene_variant CLLE-ES 8 101321438 101321438 single base substitution T C intron_variant CLLE-ES 8 101350471 101350471 single base substitution G A upstream_gene_variant COAD-US 8 101277003 101277003 single base substitution C T downstream_gene_variant COAD-US 8 101277003 101277003 single base substitution C T exon_variant COAD-US 8 101277003 101277003 single base substitution C T missense_variant R401H 1202G>A COAD-US 8 101277003 101277003 single base substitution C T upstream_gene_variant COAD-US 8 101300064 101300064 single base substitution G T downstream_gene_variant COAD-US 8 101300064 101300064 single base substitution G T synonymous_variant T113T 339C>A COAD-US 8 101300215 101300215 single base substitution C A downstream_gene_variant COAD-US 8 101300215 101300215 single base substitution C A missense_variant R32I 95G>T COAD-US 8 101300215 101300215 single base substitution C A missense_variant R63I 188G>T COCA-CN 8 101266217 101266217 single base substitution G A downstream_gene_variant COCA-CN 8 101268237 101268237 single base substitution G A downstream_gene_variant COCA-CN 8 101271424 101271424 single base substitution T G downstream_gene_variant COCA-CN 8 101271424 101271424 single base substitution T G exon_variant COCA-CN 8 101271424 101271424 single base substitution T G missense_variant K626T 1877A>C COCA-CN 8 101294878 101294878 single base substitution C G intron_variant COCA-CN 8 101298443 101298443 single base substitution C A downstream_gene_variant COCA-CN 8 101298443 101298443 single base substitution C A intron_variant COCA-CN 8 101299800 101299800 single base substitution G A downstream_gene_variant COCA-CN 8 101299800 101299800 single base substitution G A synonymous_variant Y201Y 603C>T COCA-CN 8 101317952 101317952 single base substitution A G intron_variant COCA-CN 8 101317952 101317952 single base substitution A G upstream_gene_variant COCA-CN 8 101327629 101327629 single base substitution A G intron_variant COCA-CN 8 101332255 101332255 single base substitution A G intron_variant EOPC-DE 8 101337560 101337560 single base substitution T C intron_variant ESAD-UK 8 101264517 101264517 single base substitution G A downstream_gene_variant ESAD-UK 8 101266157 101266157 single base substitution A G downstream_gene_variant ESAD-UK 8 101270055 101270055 single base substitution G A 3_prime_UTR_variant ESAD-UK 8 101270055 101270055 single base substitution G A downstream_gene_variant ESAD-UK 8 101271507 101271507 single base substitution T C downstream_gene_variant ESAD-UK 8 101271507 101271507 single base substitution T C intron_variant ESAD-UK 8 101284456 101284456 insertion of <=200bp - A intron_variant ESAD-UK 8 101284456 101284456 insertion of <=200bp - A upstream_gene_variant ESAD-UK 8 101284805 101284805 single base substitution G A intron_variant ESAD-UK 8 101284805 101284805 single base substitution G A upstream_gene_variant ESAD-UK 8 101285563 101285563 single base substitution G A intron_variant ESAD-UK 8 101285563 101285563 single base substitution G A upstream_gene_variant ESAD-UK 8 101287241 101287241 single base substitution A T exon_variant ESAD-UK 8 101287241 101287241 single base substitution A T missense_variant L275I 823T>A ESAD-UK 8 101289261 101289261 single base substitution C G intron_variant ESAD-UK 8 101289261 101289261 single base substitution C G upstream_gene_variant ESAD-UK 8 101290714 101290714 single base substitution G C intron_variant ESAD-UK 8 101290714 101290714 single base substitution G C upstream_gene_variant ESAD-UK 8 101300579 101300579 single base substitution A C intron_variant ESAD-UK 8 101300608 101300608 single base substitution G A intron_variant ESAD-UK 8 101301757 101301757 deletion of <=200bp A - intron_variant ESAD-UK 8 101302716 101302716 single base substitution A C intron_variant ESAD-UK 8 101305553 101305553 deletion of <=200bp A - intron_variant ESAD-UK 8 101307490 101307490 single base substitution T G intron_variant ESAD-UK 8 101310074 101310074 single base substitution T A downstream_gene_variant ESAD-UK 8 101310074 101310074 single base substitution T A intron_variant ESAD-UK 8 101310444 101310444 single base substitution T A downstream_gene_variant ESAD-UK 8 101310444 101310444 single base substitution T A intron_variant ESAD-UK 8 101312022 101312022 single base substitution T C downstream_gene_variant ESAD-UK 8 101312022 101312022 single base substitution T C intron_variant ESAD-UK 8 101320841 101320844 deletion of <=200bp CAAA - intron_variant ESAD-UK 8 101323282 101323282 single base substitution C T intron_variant ESAD-UK 8 101323282 101323282 single base substitution C T upstream_gene_variant ESAD-UK 8 101326663 101326663 single base substitution G A intron_variant ESAD-UK 8 101326663 101326663 single base substitution G A upstream_gene_variant ESAD-UK 8 101328038 101328038 single base substitution A C intron_variant ESAD-UK 8 101328162 101328162 single base substitution G A intron_variant ESAD-UK 8 101328254 101328254 single base substitution C A intron_variant ESAD-UK 8 101328266 101328266 single base substitution C T intron_variant ESAD-UK 8 101328440 101328440 single base substitution G A intron_variant ESAD-UK 8 101329168 101329168 single base substitution G A intron_variant ESAD-UK 8 101329955 101329955 single base substitution G A intron_variant ESAD-UK 8 101331540 101331540 single base substitution C T intron_variant ESAD-UK 8 101337995 101337995 insertion of <=200bp - AC intron_variant ESAD-UK 8 101339331 101339331 single base substitution C A intron_variant ESAD-UK 8 101340311 101340311 single base substitution G A intron_variant ESAD-UK 8 101340386 101340386 single base substitution G A intron_variant ESAD-UK 8 101340901 101340901 single base substitution T C intron_variant ESAD-UK 8 101342864 101342864 single base substitution G A intron_variant ESAD-UK 8 101342869 101342869 single base substitution T C intron_variant ESAD-UK 8 101343221 101343221 single base substitution C T intron_variant ESAD-UK 8 101345731 101345731 single base substitution G A intron_variant ESAD-UK 8 101346535 101346535 single base substitution C A intron_variant ESAD-UK 8 101349126 101349126 single base substitution G A upstream_gene_variant ESAD-UK 8 101350700 101350700 single base substitution C T upstream_gene_variant ESAD-UK 8 101351763 101351763 single base substitution T G upstream_gene_variant ESAD-UK 8 101352210 101352210 single base substitution G A upstream_gene_variant ESCA-CN 8 101271484 101271485 deletion of <=200bp AA - downstream_gene_variant ESCA-CN 8 101271484 101271485 deletion of <=200bp AA - intron_variant GACA-CN 8 101271333 101271333 single base substitution A C downstream_gene_variant GACA-CN 8 101271333 101271333 single base substitution A C exon_variant GACA-CN 8 101271333 101271333 single base substitution A C synonymous_variant G656G 1968T>G GBM-US 8 101273881 101273881 single base substitution C T downstream_gene_variant GBM-US 8 101273881 101273881 single base substitution C T exon_variant GBM-US 8 101273881 101273881 single base substitution C T intron_variant GBM-US 8 101273881 101273881 single base substitution C T missense_variant R524Q 1571G>A GBM-US 8 101273881 101273881 single base substitution C T upstream_gene_variant KIRC-US 8 101271242 101271242 single base substitution T C downstream_gene_variant KIRC-US 8 101271242 101271242 single base substitution T C exon_variant KIRC-US 8 101271242 101271242 single base substitution T C missense_variant N687D 2059A>G KIRP-US 8 101276971 101276971 single base substitution G A downstream_gene_variant KIRP-US 8 101276971 101276971 single base substitution G A exon_variant KIRP-US 8 101276971 101276971 single base substitution G A missense_variant R412W 1234C>T KIRP-US 8 101276971 101276971 single base substitution G A upstream_gene_variant LGG-US 8 101287238 101287238 single base substitution G A exon_variant LGG-US 8 101287238 101287238 single base substitution G A missense_variant R276C 826C>T LICA-CN 8 101276258 101276258 single base substitution T G downstream_gene_variant LICA-CN 8 101276258 101276258 single base substitution T G intron_variant LICA-CN 8 101276258 101276258 single base substitution T G splice_region_variant LICA-CN 8 101276258 101276258 single base substitution T G upstream_gene_variant LICA-CN 8 101281052 101281052 single base substitution A C exon_variant LICA-CN 8 101281052 101281052 single base substitution A C synonymous_variant P384P 1152T>G LICA-CN 8 101281052 101281052 single base substitution A C upstream_gene_variant LICA-CN 8 101299820 101299820 single base substitution C T downstream_gene_variant LICA-CN 8 101299820 101299820 single base substitution C T missense_variant D195N 583G>A LICA-FR 8 101268561 101268561 single base substitution C G downstream_gene_variant LICA-FR 8 101278706 101278706 single base substitution T C downstream_gene_variant LICA-FR 8 101278706 101278706 single base substitution T C intron_variant LICA-FR 8 101278706 101278706 single base substitution T C upstream_gene_variant LICA-FR 8 101294657 101294657 single base substitution A C intron_variant LICA-FR 8 101299761 101299761 single base substitution A T downstream_gene_variant LICA-FR 8 101299761 101299761 single base substitution A T synonymous_variant P214P 642T>A LICA-FR 8 101300293 101300293 single base substitution T A downstream_gene_variant LICA-FR 8 101300293 101300293 single base substitution T A missense_variant Q37L 110A>T LICA-FR 8 101300293 101300293 single base substitution T A missense_variant Q6L 17A>T LICA-FR 8 101306162 101306162 single base substitution T C intron_variant LICA-FR 8 101329766 101329766 single base substitution C T intron_variant LICA-FR 8 101349248 101349248 single base substitution A G upstream_gene_variant LICA-FR 8 101350408 101350408 single base substitution T A upstream_gene_variant LIHC-US 8 101271389 101271389 single base substitution C A downstream_gene_variant LIHC-US 8 101271389 101271389 single base substitution C A exon_variant LIHC-US 8 101271389 101271389 single base substitution C A missense_variant D638Y 1912G>T LIHC-US 8 101287279 101287279 single base substitution T A missense_variant Q262L 785A>T LIHC-US 8 101287279 101287279 single base substitution T A upstream_gene_variant LINC-JP 8 101271303 101271303 single base substitution T C downstream_gene_variant LINC-JP 8 101271303 101271303 single base substitution T C exon_variant LINC-JP 8 101271303 101271303 single base substitution T C synonymous_variant E666E 1998A>G LINC-JP 8 101273912 101273912 single base substitution T C downstream_gene_variant LINC-JP 8 101273912 101273912 single base substitution T C exon_variant LINC-JP 8 101273912 101273912 single base substitution T C intron_variant LINC-JP 8 101273912 101273912 single base substitution T C missense_variant S514G 1540A>G LINC-JP 8 101273912 101273912 single base substitution T C upstream_gene_variant LINC-JP 8 101276311 101276311 single base substitution T G downstream_gene_variant LINC-JP 8 101276311 101276311 single base substitution T G exon_variant LINC-JP 8 101276311 101276311 single base substitution T G intron_variant LINC-JP 8 101276311 101276311 single base substitution T G missense_variant E473D 1419A>C LINC-JP 8 101276311 101276311 single base substitution T G upstream_gene_variant LINC-JP 8 101280148 101280148 single base substitution C T downstream_gene_variant LINC-JP 8 101280148 101280148 single base substitution C T intron_variant LINC-JP 8 101280148 101280148 single base substitution C T upstream_gene_variant LINC-JP 8 101312216 101312216 single base substitution T C downstream_gene_variant LINC-JP 8 101312216 101312216 single base substitution T C intron_variant LINC-JP 8 101316868 101316868 single base substitution A C intron_variant LINC-JP 8 101316868 101316868 single base substitution A C upstream_gene_variant LINC-JP 8 101318794 101318794 single base substitution T C intron_variant LINC-JP 8 101318794 101318794 single base substitution T C upstream_gene_variant LINC-JP 8 101328542 101328542 single base substitution G A intron_variant LINC-JP 8 101340500 101340500 single base substitution A G intron_variant LINC-JP 8 101341478 101341478 single base substitution T C intron_variant LINC-JP 8 101341834 101341834 single base substitution A G intron_variant LINC-JP 8 101344982 101344982 single base substitution A G intron_variant LINC-JP 8 101349117 101349117 single base substitution A G upstream_gene_variant LIRI-JP 8 101266178 101266178 single base substitution T C downstream_gene_variant LIRI-JP 8 101272517 101272517 single base substitution A T downstream_gene_variant LIRI-JP 8 101272517 101272517 single base substitution A T intron_variant LIRI-JP 8 101272517 101272517 single base substitution A T upstream_gene_variant LIRI-JP 8 101273387 101273387 single base substitution A G downstream_gene_variant LIRI-JP 8 101273387 101273387 single base substitution A G intron_variant LIRI-JP 8 101273387 101273387 single base substitution A G upstream_gene_variant LIRI-JP 8 101275247 101275247 single base substitution T C intron_variant LIRI-JP 8 101275247 101275247 single base substitution T C upstream_gene_variant LIRI-JP 8 101275631 101275631 single base substitution G C intron_variant LIRI-JP 8 101275631 101275631 single base substitution G C upstream_gene_variant LIRI-JP 8 101278830 101278830 single base substitution A G downstream_gene_variant LIRI-JP 8 101278830 101278830 single base substitution A G intron_variant LIRI-JP 8 101278830 101278830 single base substitution A G upstream_gene_variant LIRI-JP 8 101279994 101279994 single base substitution T A downstream_gene_variant LIRI-JP 8 101279994 101279994 single base substitution T A intron_variant LIRI-JP 8 101279994 101279994 single base substitution T A upstream_gene_variant LIRI-JP 8 101280825 101280825 single base substitution G A downstream_gene_variant LIRI-JP 8 101280825 101280825 single base substitution G A intron_variant LIRI-JP 8 101280825 101280825 single base substitution G A upstream_gene_variant LIRI-JP 8 101286074 101286074 single base substitution A G intron_variant LIRI-JP 8 101286074 101286074 single base substitution A G upstream_gene_variant LIRI-JP 8 101286162 101286162 single base substitution C T intron_variant LIRI-JP 8 101287388 101287388 single base substitution A G missense_variant Y226H 676T>C LIRI-JP 8 101287388 101287388 single base substitution A G upstream_gene_variant LIRI-JP 8 101290724 101290724 single base substitution T A intron_variant LIRI-JP 8 101290724 101290724 single base substitution T A upstream_gene_variant LIRI-JP 8 101291338 101291338 single base substitution A G intron_variant LIRI-JP 8 101291338 101291338 single base substitution A G upstream_gene_variant LIRI-JP 8 101294703 101294703 single base substitution T C intron_variant LIRI-JP 8 101297184 101297184 single base substitution T C downstream_gene_variant LIRI-JP 8 101297184 101297184 single base substitution T C intron_variant LIRI-JP 8 101298146 101298146 single base substitution G A downstream_gene_variant LIRI-JP 8 101298146 101298146 single base substitution G A intron_variant LIRI-JP 8 101298751 101298751 single base substitution C T downstream_gene_variant LIRI-JP 8 101298751 101298751 single base substitution C T intron_variant LIRI-JP 8 101299419 101299419 single base substitution T C downstream_gene_variant LIRI-JP 8 101299419 101299419 single base substitution T C intron_variant LIRI-JP 8 101300087 101300087 single base substitution T G downstream_gene_variant LIRI-JP 8 101300087 101300087 single base substitution T G missense_variant N106H 316A>C LIRI-JP 8 101301259 101301259 single base substitution C T intron_variant LIRI-JP 8 101302078 101302078 single base substitution A T intron_variant LIRI-JP 8 101302650 101302650 single base substitution G A intron_variant LIRI-JP 8 101306096 101306096 single base substitution T C intron_variant LIRI-JP 8 101309031 101309031 single base substitution T C downstream_gene_variant LIRI-JP 8 101309031 101309031 single base substitution T C intron_variant LIRI-JP 8 101309848 101309848 single base substitution G A downstream_gene_variant LIRI-JP 8 101309848 101309848 single base substitution G A intron_variant LIRI-JP 8 101310073 101310073 deletion of <=200bp T - downstream_gene_variant LIRI-JP 8 101310073 101310073 deletion of <=200bp T - intron_variant LIRI-JP 8 101310597 101310597 single base substitution C T downstream_gene_variant LIRI-JP 8 101310597 101310597 single base substitution C T intron_variant LIRI-JP 8 101311211 101311211 single base substitution C T downstream_gene_variant LIRI-JP 8 101311211 101311211 single base substitution C T intron_variant LIRI-JP 8 101311584 101311584 single base substitution C A downstream_gene_variant LIRI-JP 8 101311584 101311584 single base substitution C A intron_variant LIRI-JP 8 101312323 101312323 single base substitution T C downstream_gene_variant LIRI-JP 8 101312323 101312323 single base substitution T C intron_variant LIRI-JP 8 101312556 101312556 single base substitution T C downstream_gene_variant LIRI-JP 8 101312556 101312556 single base substitution T C intron_variant LIRI-JP 8 101312637 101312637 single base substitution T G downstream_gene_variant LIRI-JP 8 101312637 101312637 single base substitution T G intron_variant LIRI-JP 8 101312938 101312938 single base substitution G C intron_variant LIRI-JP 8 101314398 101314398 single base substitution T C intron_variant LIRI-JP 8 101315099 101315101 deletion of <=200bp AGG - intron_variant LIRI-JP 8 101315363 101315363 single base substitution T G intron_variant LIRI-JP 8 101316147 101316147 single base substitution A C intron_variant LIRI-JP 8 101316147 101316147 single base substitution A C upstream_gene_variant LIRI-JP 8 101316208 101316208 single base substitution C A intron_variant LIRI-JP 8 101316208 101316208 single base substitution C A upstream_gene_variant LIRI-JP 8 101317485 101317485 single base substitution G A intron_variant LIRI-JP 8 101317485 101317485 single base substitution G A upstream_gene_variant LIRI-JP 8 101319917 101319917 single base substitution A G intron_variant LIRI-JP 8 101319917 101319917 single base substitution A G upstream_gene_variant LIRI-JP 8 101321700 101321700 single base substitution C G 5_prime_UTR_variant LIRI-JP 8 101321700 101321700 single base substitution C G intron_variant LIRI-JP 8 101322836 101322836 single base substitution G C intron_variant LIRI-JP 8 101322836 101322836 single base substitution G C upstream_gene_variant LIRI-JP 8 101323705 101323705 single base substitution G C intron_variant LIRI-JP 8 101323705 101323705 single base substitution G C upstream_gene_variant LIRI-JP 8 101324219 101324219 single base substitution C T intron_variant LIRI-JP 8 101324219 101324219 single base substitution C T upstream_gene_variant LIRI-JP 8 101324910 101324910 single base substitution G T intron_variant LIRI-JP 8 101324910 101324910 single base substitution G T upstream_gene_variant LIRI-JP 8 101326871 101326871 single base substitution T A intron_variant LIRI-JP 8 101326871 101326871 single base substitution T A upstream_gene_variant LIRI-JP 8 101328902 101328902 single base substitution C T intron_variant LIRI-JP 8 101330209 101330209 single base substitution A G intron_variant LIRI-JP 8 101332158 101332158 single base substitution G C intron_variant LIRI-JP 8 101333186 101333186 single base substitution T C intron_variant LIRI-JP 8 101333208 101333208 single base substitution A C intron_variant LIRI-JP 8 101333725 101333725 single base substitution C T intron_variant LIRI-JP 8 101335436 101335436 single base substitution G T intron_variant LIRI-JP 8 101336729 101336729 single base substitution G T intron_variant LIRI-JP 8 101337839 101337839 single base substitution C T intron_variant LIRI-JP 8 101337844 101337844 single base substitution A T intron_variant LIRI-JP 8 101338098 101338098 single base substitution T C intron_variant LIRI-JP 8 101339756 101339756 single base substitution G A intron_variant LIRI-JP 8 101342356 101342356 single base substitution C A intron_variant LIRI-JP 8 101345787 101345787 single base substitution A C intron_variant LIRI-JP 8 101346237 101346237 single base substitution G T intron_variant LIRI-JP 8 101348034 101348034 single base substitution C A intron_variant LIRI-JP 8 101348034 101348034 single base substitution C T intron_variant LIRI-JP 8 101349404 101349404 single base substitution A C upstream_gene_variant LIRI-JP 8 101349448 101349448 single base substitution A C upstream_gene_variant LIRI-JP 8 101350309 101350309 single base substitution C A upstream_gene_variant LIRI-JP 8 101352183 101352183 single base substitution C A upstream_gene_variant LIRI-JP 8 101353122 101353122 single base substitution G A upstream_gene_variant LUSC-KR 8 101271928 101271928 single base substitution T A downstream_gene_variant LUSC-KR 8 101271928 101271928 single base substitution T A intron_variant LUSC-KR 8 101281238 101281238 single base substitution C A intron_variant LUSC-KR 8 101281238 101281238 single base substitution C A upstream_gene_variant LUSC-KR 8 101287483 101287483 single base substitution A G intron_variant LUSC-KR 8 101287483 101287483 single base substitution A G upstream_gene_variant LUSC-KR 8 101289668 101289668 single base substitution T C intron_variant LUSC-KR 8 101289668 101289668 single base substitution T C upstream_gene_variant LUSC-KR 8 101303616 101303616 single base substitution C A intron_variant LUSC-KR 8 101308693 101308693 single base substitution T C downstream_gene_variant LUSC-KR 8 101308693 101308693 single base substitution T C intron_variant LUSC-KR 8 101310482 101310482 single base substitution G A downstream_gene_variant LUSC-KR 8 101310482 101310482 single base substitution G A intron_variant LUSC-KR 8 101311472 101311472 single base substitution T C downstream_gene_variant LUSC-KR 8 101311472 101311472 single base substitution T C intron_variant LUSC-KR 8 101311627 101311627 single base substitution C A downstream_gene_variant LUSC-KR 8 101311627 101311627 single base substitution C A intron_variant LUSC-KR 8 101315739 101315739 single base substitution T C intron_variant LUSC-KR 8 101315739 101315739 single base substitution T C upstream_gene_variant LUSC-KR 8 101316225 101316225 single base substitution C G intron_variant LUSC-KR 8 101316225 101316225 single base substitution C G upstream_gene_variant LUSC-KR 8 101318143 101318143 single base substitution T C intron_variant LUSC-KR 8 101318143 101318143 single base substitution T C upstream_gene_variant LUSC-KR 8 101323084 101323084 single base substitution G C intron_variant LUSC-KR 8 101323084 101323084 single base substitution G C upstream_gene_variant LUSC-KR 8 101323496 101323496 single base substitution G T intron_variant LUSC-KR 8 101323496 101323496 single base substitution G T upstream_gene_variant LUSC-KR 8 101325188 101325188 single base substitution A G intron_variant LUSC-KR 8 101325188 101325188 single base substitution A G upstream_gene_variant LUSC-KR 8 101327766 101327766 single base substitution C T intron_variant LUSC-KR 8 101328099 101328099 single base substitution G T intron_variant LUSC-KR 8 101328266 101328266 single base substitution C T intron_variant LUSC-KR 8 101328417 101328417 single base substitution C T intron_variant LUSC-KR 8 101331487 101331487 single base substitution T A intron_variant LUSC-KR 8 101332840 101332840 single base substitution G T intron_variant LUSC-KR 8 101339687 101339687 single base substitution C T intron_variant LUSC-KR 8 101339848 101339848 single base substitution C T intron_variant LUSC-KR 8 101342091 101342091 single base substitution G A intron_variant LUSC-KR 8 101344926 101344926 single base substitution T A intron_variant LUSC-KR 8 101349187 101349187 single base substitution G A upstream_gene_variant LUSC-US 8 101270912 101270912 single base substitution C T downstream_gene_variant LUSC-US 8 101270912 101270912 single base substitution C T missense_variant E797K 2389G>A LUSC-US 8 101271234 101271234 single base substitution C A downstream_gene_variant LUSC-US 8 101271234 101271234 single base substitution C A exon_variant LUSC-US 8 101271234 101271234 single base substitution C A synonymous_variant T689T 2067G>T LUSC-US 8 101281076 101281076 single base substitution A C exon_variant LUSC-US 8 101281076 101281076 single base substitution A C synonymous_variant A376A 1128T>G LUSC-US 8 101281076 101281076 single base substitution A C upstream_gene_variant LUSC-US 8 101287334 101287334 single base substitution C G missense_variant E244Q 730G>C LUSC-US 8 101287334 101287334 single base substitution C G upstream_gene_variant MALY-DE 8 101273304 101273304 single base substitution G A downstream_gene_variant MALY-DE 8 101273304 101273304 single base substitution G A intron_variant MALY-DE 8 101273304 101273304 single base substitution G A upstream_gene_variant MALY-DE 8 101277295 101277295 single base substitution A G downstream_gene_variant MALY-DE 8 101277295 101277295 single base substitution A G intron_variant MALY-DE 8 101277295 101277295 single base substitution A G upstream_gene_variant MALY-DE 8 101278532 101278532 single base substitution G A downstream_gene_variant MALY-DE 8 101278532 101278532 single base substitution G A intron_variant MALY-DE 8 101278532 101278532 single base substitution G A upstream_gene_variant MALY-DE 8 101278731 101278731 single base substitution A T downstream_gene_variant MALY-DE 8 101278731 101278731 single base substitution A T intron_variant MALY-DE 8 101278731 101278731 single base substitution A T upstream_gene_variant MALY-DE 8 101292428 101292428 single base substitution A T intron_variant MALY-DE 8 101298419 101298419 single base substitution T G downstream_gene_variant MALY-DE 8 101298419 101298419 single base substitution T G intron_variant MALY-DE 8 101302473 101302473 single base substitution G A intron_variant MALY-DE 8 101308603 101308603 single base substitution G A downstream_gene_variant MALY-DE 8 101308603 101308603 single base substitution G A intron_variant MALY-DE 8 101313357 101313357 single base substitution T C intron_variant MALY-DE 8 101315943 101315943 single base substitution G A intron_variant MALY-DE 8 101315943 101315943 single base substitution G A upstream_gene_variant MALY-DE 8 101318838 101318838 single base substitution G A intron_variant MALY-DE 8 101318838 101318838 single base substitution G A upstream_gene_variant MALY-DE 8 101320819 101320819 single base substitution C T intron_variant MALY-DE 8 101321415 101321415 single base substitution A C intron_variant MALY-DE 8 101324049 101324049 single base substitution G A intron_variant MALY-DE 8 101324049 101324049 single base substitution G A upstream_gene_variant MALY-DE 8 101327622 101327622 insertion of <=200bp - G intron_variant MALY-DE 8 101330394 101330394 single base substitution T G intron_variant MALY-DE 8 101338463 101338463 single base substitution T C intron_variant MALY-DE 8 101338741 101338741 single base substitution T A intron_variant MALY-DE 8 101340996 101340996 single base substitution T A intron_variant MALY-DE 8 101341960 101341960 single base substitution T C intron_variant MALY-DE 8 101347925 101347925 single base substitution C T intron_variant MALY-DE 8 101349609 101349609 insertion of <=200bp - T upstream_gene_variant MALY-DE 8 101351048 101351048 single base substitution C T upstream_gene_variant MALY-DE 8 101351578 101351578 single base substitution A C upstream_gene_variant MELA-AU 8 101264496 101264496 single base substitution G A downstream_gene_variant MELA-AU 8 101265009 101265009 single base substitution G A downstream_gene_variant MELA-AU 8 101266912 101266912 single base substitution A T downstream_gene_variant MELA-AU 8 101268231 101268231 single base substitution G C downstream_gene_variant MELA-AU 8 101268465 101268465 single base substitution G A downstream_gene_variant MELA-AU 8 101268883 101268883 single base substitution T C downstream_gene_variant MELA-AU 8 101269043 101269043 single base substitution A G downstream_gene_variant MELA-AU 8 101271017 101271017 single base substitution C T downstream_gene_variant MELA-AU 8 101271017 101271017 single base substitution C T missense_variant E762K 2284G>A MELA-AU 8 101271040 101271040 single base substitution A G downstream_gene_variant MELA-AU 8 101271040 101271040 single base substitution A G missense_variant F754S 2261T>C MELA-AU 8 101271305 101271305 single base substitution C T downstream_gene_variant MELA-AU 8 101271305 101271305 single base substitution C T exon_variant MELA-AU 8 101271305 101271305 single base substitution C T missense_variant E666K 1996G>A MELA-AU 8 101271477 101271477 single base substitution G A downstream_gene_variant MELA-AU 8 101271477 101271477 single base substitution G A intron_variant MELA-AU 8 101271665 101271665 single base substitution A T downstream_gene_variant MELA-AU 8 101271665 101271665 single base substitution A T intron_variant MELA-AU 8 101272010 101272010 single base substitution A T downstream_gene_variant MELA-AU 8 101272010 101272010 single base substitution A T intron_variant MELA-AU 8 101272158 101272158 single base substitution A G downstream_gene_variant MELA-AU 8 101272158 101272158 single base substitution A G exon_variant MELA-AU 8 101272158 101272158 single base substitution A G synonymous_variant L584L 1750T>C MELA-AU 8 101274535 101274535 single base substitution T G intron_variant MELA-AU 8 101274535 101274535 single base substitution T G upstream_gene_variant MELA-AU 8 101275633 101275633 single base substitution G A intron_variant MELA-AU 8 101275633 101275633 single base substitution G A upstream_gene_variant MELA-AU 8 101276397 101276397 single base substitution A G downstream_gene_variant MELA-AU 8 101276397 101276397 single base substitution A G exon_variant MELA-AU 8 101276397 101276397 single base substitution A G intron_variant MELA-AU 8 101276397 101276397 single base substitution A G missense_variant Y445H 1333T>C MELA-AU 8 101276397 101276397 single base substitution A G upstream_gene_variant MELA-AU 8 101276756 101276756 single base substitution G A downstream_gene_variant MELA-AU 8 101276756 101276756 single base substitution G A exon_variant MELA-AU 8 101276756 101276756 single base substitution G A intron_variant MELA-AU 8 101276756 101276756 single base substitution G A upstream_gene_variant MELA-AU 8 101276847 101276847 single base substitution A G downstream_gene_variant MELA-AU 8 101276847 101276847 single base substitution A G intron_variant MELA-AU 8 101276847 101276847 single base substitution A G upstream_gene_variant MELA-AU 8 101277228 101277228 single base substitution G A downstream_gene_variant MELA-AU 8 101277228 101277228 single base substitution G A intron_variant MELA-AU 8 101277228 101277228 single base substitution G A upstream_gene_variant MELA-AU 8 101277900 101277931 deletion of <=200bp TTATTACATGGTATAATAACACCTTTGGCCTT - downstream_gene_variant MELA-AU 8 101277900 101277931 deletion of <=200bp TTATTACATGGTATAATAACACCTTTGGCCTT - intron_variant MELA-AU 8 101277900 101277931 deletion of <=200bp TTATTACATGGTATAATAACACCTTTGGCCTT - upstream_gene_variant MELA-AU 8 101278188 101278188 single base substitution C T downstream_gene_variant MELA-AU 8 101278188 101278188 single base substitution C T intron_variant MELA-AU 8 101278188 101278188 single base substitution C T upstream_gene_variant MELA-AU 8 101278197 101278197 single base substitution G A downstream_gene_variant MELA-AU 8 101278197 101278197 single base substitution G A intron_variant MELA-AU 8 101278197 101278197 single base substitution G A upstream_gene_variant MELA-AU 8 101278494 101278494 single base substitution G A downstream_gene_variant MELA-AU 8 101278494 101278494 single base substitution G A intron_variant MELA-AU 8 101278494 101278494 single base substitution G A upstream_gene_variant MELA-AU 8 101278553 101278553 single base substitution A G downstream_gene_variant MELA-AU 8 101278553 101278553 single base substitution A G intron_variant MELA-AU 8 101278553 101278553 single base substitution A G upstream_gene_variant MELA-AU 8 101279263 101279263 single base substitution G A downstream_gene_variant MELA-AU 8 101279263 101279263 single base substitution G A intron_variant MELA-AU 8 101279263 101279263 single base substitution G A upstream_gene_variant MELA-AU 8 101279530 101279530 single base substitution G A downstream_gene_variant MELA-AU 8 101279530 101279530 single base substitution G A intron_variant MELA-AU 8 101279530 101279530 single base substitution G A upstream_gene_variant MELA-AU 8 101280704 101280704 single base substitution G A downstream_gene_variant MELA-AU 8 101280704 101280704 single base substitution G A intron_variant MELA-AU 8 101280704 101280704 single base substitution G A upstream_gene_variant MELA-AU 8 101280803 101280803 single base substitution T G downstream_gene_variant MELA-AU 8 101280803 101280803 single base substitution T G intron_variant MELA-AU 8 101280803 101280803 single base substitution T G upstream_gene_variant MELA-AU 8 101281879 101281879 single base substitution A G intron_variant MELA-AU 8 101281879 101281879 single base substitution A G upstream_gene_variant MELA-AU 8 101283502 101283502 single base substitution T A intron_variant MELA-AU 8 101283502 101283502 single base substitution T A upstream_gene_variant MELA-AU 8 101283652 101283653 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 8 101283652 101283653 multiple base substitution (>=2bp and <=200bp) GA AT upstream_gene_variant MELA-AU 8 101284098 101284098 single base substitution G A intron_variant MELA-AU 8 101284098 101284098 single base substitution G A upstream_gene_variant MELA-AU 8 101285424 101285424 single base substitution C T intron_variant MELA-AU 8 101285424 101285424 single base substitution C T upstream_gene_variant MELA-AU 8 101286513 101286513 single base substitution G A intron_variant MELA-AU 8 101286813 101286814 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 8 101286832 101286832 single base substitution C T intron_variant MELA-AU 8 101287324 101287324 single base substitution C T missense_variant G247E 740G>A MELA-AU 8 101287324 101287324 single base substitution C T upstream_gene_variant MELA-AU 8 101287656 101287656 single base substitution G A intron_variant MELA-AU 8 101287656 101287656 single base substitution G A upstream_gene_variant MELA-AU 8 101287892 101287892 single base substitution G A intron_variant MELA-AU 8 101287892 101287892 single base substitution G A upstream_gene_variant MELA-AU 8 101289639 101289639 single base substitution A C intron_variant MELA-AU 8 101289639 101289639 single base substitution A C upstream_gene_variant MELA-AU 8 101290348 101290348 single base substitution C G intron_variant MELA-AU 8 101290348 101290348 single base substitution C G upstream_gene_variant MELA-AU 8 101291275 101291275 single base substitution G T intron_variant MELA-AU 8 101291275 101291275 single base substitution G T upstream_gene_variant MELA-AU 8 101291584 101291584 single base substitution G A intron_variant MELA-AU 8 101291584 101291584 single base substitution G A upstream_gene_variant MELA-AU 8 101292611 101292612 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 101293246 101293246 single base substitution G A intron_variant MELA-AU 8 101295059 101295059 single base substitution C T downstream_gene_variant MELA-AU 8 101295059 101295059 single base substitution C T intron_variant MELA-AU 8 101295743 101295743 single base substitution G A downstream_gene_variant MELA-AU 8 101295743 101295743 single base substitution G A intron_variant MELA-AU 8 101296168 101296168 single base substitution A T downstream_gene_variant MELA-AU 8 101296168 101296168 single base substitution A T intron_variant MELA-AU 8 101296352 101296352 single base substitution A T downstream_gene_variant MELA-AU 8 101296352 101296352 single base substitution A T intron_variant MELA-AU 8 101296680 101296680 deletion of <=200bp T - downstream_gene_variant MELA-AU 8 101296680 101296680 deletion of <=200bp T - intron_variant MELA-AU 8 101297760 101297760 single base substitution C A downstream_gene_variant MELA-AU 8 101297760 101297760 single base substitution C A intron_variant MELA-AU 8 101298390 101298390 single base substitution C A downstream_gene_variant MELA-AU 8 101298390 101298390 single base substitution C A intron_variant MELA-AU 8 101298454 101298454 single base substitution A T downstream_gene_variant MELA-AU 8 101298454 101298454 single base substitution A T intron_variant MELA-AU 8 101298946 101298947 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 8 101298946 101298947 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 101299029 101299029 single base substitution C T downstream_gene_variant MELA-AU 8 101299029 101299029 single base substitution C T intron_variant MELA-AU 8 101299473 101299473 single base substitution G A downstream_gene_variant MELA-AU 8 101299473 101299473 single base substitution G A intron_variant MELA-AU 8 101299970 101299970 single base substitution G A downstream_gene_variant MELA-AU 8 101299970 101299970 single base substitution G A missense_variant P145S 433C>T MELA-AU 8 101300498 101300498 single base substitution G A intron_variant MELA-AU 8 101300498 101300498 single base substitution G A splice_region_variant MELA-AU 8 101300784 101300784 single base substitution G A intron_variant MELA-AU 8 101300876 101300876 single base substitution G A intron_variant MELA-AU 8 101301145 101301146 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 101301327 101301327 single base substitution C T intron_variant MELA-AU 8 101302281 101302281 single base substitution G A intron_variant MELA-AU 8 101302395 101302395 single base substitution T A intron_variant MELA-AU 8 101302604 101302604 single base substitution A T intron_variant MELA-AU 8 101302744 101302744 single base substitution C T intron_variant MELA-AU 8 101303061 101303061 single base substitution T A intron_variant MELA-AU 8 101303194 101303194 single base substitution C T intron_variant MELA-AU 8 101303413 101303413 single base substitution G A intron_variant MELA-AU 8 101303629 101303629 single base substitution G A intron_variant MELA-AU 8 101304242 101304242 single base substitution A G intron_variant MELA-AU 8 101304520 101304520 single base substitution G T intron_variant MELA-AU 8 101305202 101305202 single base substitution G C intron_variant MELA-AU 8 101305586 101305586 single base substitution G A intron_variant MELA-AU 8 101306040 101306040 single base substitution A G intron_variant MELA-AU 8 101306136 101306136 single base substitution T G intron_variant MELA-AU 8 101306394 101306394 single base substitution G A intron_variant MELA-AU 8 101307076 101307076 single base substitution G A intron_variant MELA-AU 8 101307255 101307255 single base substitution T C intron_variant MELA-AU 8 101307472 101307472 single base substitution C T intron_variant MELA-AU 8 101307720 101307720 single base substitution G A intron_variant MELA-AU 8 101307803 101307803 single base substitution G A downstream_gene_variant MELA-AU 8 101307803 101307803 single base substitution G A intron_variant MELA-AU 8 101310082 101310082 single base substitution G A downstream_gene_variant MELA-AU 8 101310082 101310082 single base substitution G A intron_variant MELA-AU 8 101310432 101310432 single base substitution A T downstream_gene_variant MELA-AU 8 101310432 101310432 single base substitution A T intron_variant MELA-AU 8 101312243 101312244 multiple base substitution (>=2bp and <=200bp) GT AG downstream_gene_variant MELA-AU 8 101312243 101312244 multiple base substitution (>=2bp and <=200bp) GT AG intron_variant MELA-AU 8 101312346 101312346 single base substitution C G downstream_gene_variant MELA-AU 8 101312346 101312346 single base substitution C G intron_variant MELA-AU 8 101312735 101312735 single base substitution G A downstream_gene_variant MELA-AU 8 101312735 101312735 single base substitution G A intron_variant MELA-AU 8 101313068 101313068 single base substitution A G intron_variant MELA-AU 8 101314209 101314210 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 101314887 101314887 single base substitution G A intron_variant MELA-AU 8 101315447 101315447 single base substitution G A 5_prime_UTR_variant MELA-AU 8 101315447 101315447 single base substitution G A exon_variant MELA-AU 8 101315447 101315447 single base substitution G A intron_variant MELA-AU 8 101315755 101315755 single base substitution C T intron_variant MELA-AU 8 101315755 101315755 single base substitution C T upstream_gene_variant MELA-AU 8 101315796 101315796 single base substitution G A intron_variant MELA-AU 8 101315796 101315796 single base substitution G A upstream_gene_variant MELA-AU 8 101316272 101316272 single base substitution C T intron_variant MELA-AU 8 101316272 101316272 single base substitution C T upstream_gene_variant MELA-AU 8 101316775 101316775 single base substitution A C intron_variant MELA-AU 8 101316775 101316775 single base substitution A C upstream_gene_variant MELA-AU 8 101316818 101316819 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 101316818 101316819 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 101316841 101316841 single base substitution G A intron_variant MELA-AU 8 101316841 101316841 single base substitution G A upstream_gene_variant MELA-AU 8 101317444 101317444 single base substitution T C intron_variant MELA-AU 8 101317444 101317444 single base substitution T C upstream_gene_variant MELA-AU 8 101317513 101317513 single base substitution G A intron_variant MELA-AU 8 101317513 101317513 single base substitution G A upstream_gene_variant MELA-AU 8 101317655 101317655 single base substitution C T intron_variant MELA-AU 8 101317655 101317655 single base substitution C T upstream_gene_variant MELA-AU 8 101317973 101317973 single base substitution G A intron_variant MELA-AU 8 101317973 101317973 single base substitution G A upstream_gene_variant MELA-AU 8 101318967 101318967 single base substitution C T intron_variant MELA-AU 8 101318967 101318967 single base substitution C T upstream_gene_variant MELA-AU 8 101319114 101319114 single base substitution G A intron_variant MELA-AU 8 101319114 101319114 single base substitution G A upstream_gene_variant MELA-AU 8 101319166 101319166 single base substitution C T intron_variant MELA-AU 8 101319166 101319166 single base substitution C T upstream_gene_variant MELA-AU 8 101320587 101320587 single base substitution G A intron_variant MELA-AU 8 101321647 101321647 single base substitution T C 5_prime_UTR_variant MELA-AU 8 101321647 101321647 single base substitution T C intron_variant MELA-AU 8 101321718 101321718 single base substitution G A 5_prime_UTR_variant MELA-AU 8 101321718 101321718 single base substitution G A intron_variant MELA-AU 8 101321960 101321960 single base substitution G A intron_variant MELA-AU 8 101321960 101321960 single base substitution G A upstream_gene_variant MELA-AU 8 101322884 101322884 single base substitution T G intron_variant MELA-AU 8 101322884 101322884 single base substitution T G upstream_gene_variant MELA-AU 8 101323274 101323274 single base substitution C T intron_variant MELA-AU 8 101323274 101323274 single base substitution C T upstream_gene_variant MELA-AU 8 101323357 101323357 single base substitution A G intron_variant MELA-AU 8 101323357 101323357 single base substitution A G upstream_gene_variant MELA-AU 8 101323591 101323591 single base substitution G A intron_variant MELA-AU 8 101323591 101323591 single base substitution G A upstream_gene_variant MELA-AU 8 101323786 101323786 single base substitution A T intron_variant MELA-AU 8 101323786 101323786 single base substitution A T upstream_gene_variant MELA-AU 8 101324724 101324724 single base substitution G A intron_variant MELA-AU 8 101324724 101324724 single base substitution G A upstream_gene_variant MELA-AU 8 101324776 101324776 single base substitution C T intron_variant MELA-AU 8 101324776 101324776 single base substitution C T upstream_gene_variant MELA-AU 8 101324826 101324826 single base substitution G A intron_variant MELA-AU 8 101324826 101324826 single base substitution G A upstream_gene_variant MELA-AU 8 101325027 101325027 single base substitution C T intron_variant MELA-AU 8 101325027 101325027 single base substitution C T upstream_gene_variant MELA-AU 8 101325047 101325047 single base substitution G A intron_variant MELA-AU 8 101325047 101325047 single base substitution G A upstream_gene_variant MELA-AU 8 101325118 101325119 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 8 101325118 101325119 multiple base substitution (>=2bp and <=200bp) CC AT upstream_gene_variant MELA-AU 8 101325419 101325419 single base substitution G A intron_variant MELA-AU 8 101325419 101325419 single base substitution G A upstream_gene_variant MELA-AU 8 101325640 101325640 single base substitution G A intron_variant MELA-AU 8 101325640 101325640 single base substitution G A upstream_gene_variant MELA-AU 8 101326041 101326041 single base substitution G A intron_variant MELA-AU 8 101326041 101326041 single base substitution G A upstream_gene_variant MELA-AU 8 101326262 101326262 single base substitution A C intron_variant MELA-AU 8 101326262 101326262 single base substitution A C upstream_gene_variant MELA-AU 8 101326661 101326661 single base substitution G T intron_variant MELA-AU 8 101326661 101326661 single base substitution G T upstream_gene_variant MELA-AU 8 101326805 101326805 single base substitution C T intron_variant MELA-AU 8 101326805 101326805 single base substitution C T upstream_gene_variant MELA-AU 8 101326853 101326853 single base substitution C T intron_variant MELA-AU 8 101326853 101326853 single base substitution C T upstream_gene_variant MELA-AU 8 101326909 101326909 single base substitution C T intron_variant MELA-AU 8 101326909 101326909 single base substitution C T upstream_gene_variant MELA-AU 8 101327439 101327439 single base substitution C T intron_variant MELA-AU 8 101327439 101327439 single base substitution C T upstream_gene_variant MELA-AU 8 101327442 101327442 single base substitution G A intron_variant MELA-AU 8 101327442 101327442 single base substitution G A upstream_gene_variant MELA-AU 8 101327491 101327491 single base substitution G A intron_variant MELA-AU 8 101327491 101327491 single base substitution G A upstream_gene_variant MELA-AU 8 101327661 101327661 single base substitution G A intron_variant MELA-AU 8 101327981 101327981 single base substitution C T intron_variant MELA-AU 8 101328126 101328126 single base substitution C T intron_variant MELA-AU 8 101328136 101328136 single base substitution C T intron_variant MELA-AU 8 101328396 101328396 single base substitution G A intron_variant MELA-AU 8 101328465 101328465 single base substitution C T intron_variant MELA-AU 8 101328876 101328876 single base substitution C T intron_variant MELA-AU 8 101328947 101328947 single base substitution C T intron_variant MELA-AU 8 101329133 101329133 single base substitution C T intron_variant MELA-AU 8 101329139 101329139 single base substitution C T intron_variant MELA-AU 8 101329379 101329380 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 8 101329551 101329551 single base substitution G A intron_variant MELA-AU 8 101329616 101329616 single base substitution G A intron_variant MELA-AU 8 101329672 101329672 single base substitution G A intron_variant MELA-AU 8 101329739 101329739 single base substitution C T intron_variant MELA-AU 8 101329855 101329855 single base substitution C T intron_variant MELA-AU 8 101330448 101330448 single base substitution C T intron_variant MELA-AU 8 101330753 101330754 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 101331067 101331067 single base substitution G A intron_variant MELA-AU 8 101331429 101331429 single base substitution C A intron_variant MELA-AU 8 101332028 101332028 single base substitution G A intron_variant MELA-AU 8 101332036 101332036 single base substitution G A intron_variant MELA-AU 8 101332155 101332155 single base substitution C T intron_variant MELA-AU 8 101332253 101332253 single base substitution G A intron_variant MELA-AU 8 101332333 101332333 single base substitution G A intron_variant MELA-AU 8 101332705 101332705 single base substitution G A intron_variant MELA-AU 8 101332711 101332711 single base substitution T G intron_variant MELA-AU 8 101332772 101332772 single base substitution G A intron_variant MELA-AU 8 101333198 101333198 single base substitution A T intron_variant MELA-AU 8 101333379 101333379 single base substitution C T intron_variant MELA-AU 8 101333600 101333600 single base substitution C A intron_variant MELA-AU 8 101334106 101334106 single base substitution T C intron_variant MELA-AU 8 101334179 101334179 single base substitution C T intron_variant MELA-AU 8 101334204 101334204 single base substitution G A intron_variant MELA-AU 8 101334308 101334308 single base substitution C T intron_variant MELA-AU 8 101334410 101334410 single base substitution G A intron_variant MELA-AU 8 101334578 101334578 single base substitution C T intron_variant MELA-AU 8 101334886 101334886 single base substitution A G intron_variant MELA-AU 8 101335264 101335265 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 101335555 101335555 single base substitution C T intron_variant MELA-AU 8 101335717 101335717 single base substitution C T intron_variant MELA-AU 8 101336007 101336007 single base substitution G A intron_variant MELA-AU 8 101336211 101336211 single base substitution C T intron_variant MELA-AU 8 101336656 101336656 single base substitution G A intron_variant MELA-AU 8 101336986 101336986 single base substitution G A intron_variant MELA-AU 8 101337137 101337137 single base substitution T C intron_variant MELA-AU 8 101337226 101337226 single base substitution C T intron_variant MELA-AU 8 101337325 101337325 single base substitution G A intron_variant MELA-AU 8 101337346 101337346 single base substitution G A intron_variant MELA-AU 8 101337381 101337381 single base substitution C T intron_variant MELA-AU 8 101337655 101337655 single base substitution C T intron_variant MELA-AU 8 101337903 101337903 single base substitution G A intron_variant MELA-AU 8 101337969 101337976 deletion of <=200bp TATGTATT - intron_variant MELA-AU 8 101338154 101338154 single base substitution A G intron_variant MELA-AU 8 101338803 101338803 single base substitution G A intron_variant MELA-AU 8 101339142 101339142 single base substitution C T intron_variant MELA-AU 8 101339235 101339235 single base substitution C T intron_variant MELA-AU 8 101339548 101339548 single base substitution T C intron_variant MELA-AU 8 101339560 101339560 single base substitution A G intron_variant MELA-AU 8 101340088 101340088 single base substitution G A intron_variant MELA-AU 8 101340394 101340394 single base substitution G A intron_variant MELA-AU 8 101340934 101340934 single base substitution G A intron_variant MELA-AU 8 101341124 101341124 single base substitution G A intron_variant MELA-AU 8 101341172 101341172 single base substitution C T intron_variant MELA-AU 8 101341340 101341340 single base substitution G A intron_variant MELA-AU 8 101341559 101341559 single base substitution A T intron_variant MELA-AU 8 101341616 101341616 single base substitution T C intron_variant MELA-AU 8 101342219 101342219 single base substitution G A intron_variant MELA-AU 8 101342318 101342318 single base substitution C T intron_variant MELA-AU 8 101342470 101342470 single base substitution G A intron_variant MELA-AU 8 101342714 101342714 single base substitution G A intron_variant MELA-AU 8 101342967 101342967 single base substitution G A intron_variant MELA-AU 8 101343073 101343073 single base substitution C T intron_variant MELA-AU 8 101343165 101343165 single base substitution G A intron_variant MELA-AU 8 101343398 101343398 single base substitution C T intron_variant MELA-AU 8 101343776 101343776 single base substitution G A intron_variant MELA-AU 8 101343907 101343907 single base substitution G A intron_variant MELA-AU 8 101344350 101344350 single base substitution C T intron_variant MELA-AU 8 101344591 101344591 single base substitution C T intron_variant MELA-AU 8 101344718 101344718 single base substitution C T intron_variant MELA-AU 8 101345106 101345106 single base substitution G A intron_variant MELA-AU 8 101345107 101345107 single base substitution G A intron_variant MELA-AU 8 101345295 101345295 single base substitution C G intron_variant MELA-AU 8 101346116 101346116 single base substitution C T intron_variant MELA-AU 8 101346154 101346154 single base substitution C T intron_variant MELA-AU 8 101346414 101346414 single base substitution G A intron_variant MELA-AU 8 101346549 101346549 single base substitution C T intron_variant MELA-AU 8 101346552 101346552 single base substitution C T intron_variant MELA-AU 8 101346566 101346566 single base substitution C T intron_variant MELA-AU 8 101346583 101346583 single base substitution G A intron_variant MELA-AU 8 101346601 101346601 single base substitution A G intron_variant MELA-AU 8 101346652 101346652 single base substitution C G intron_variant MELA-AU 8 101346814 101346814 single base substitution C T intron_variant MELA-AU 8 101346994 101346994 single base substitution C T intron_variant MELA-AU 8 101347027 101347027 single base substitution G A intron_variant MELA-AU 8 101347149 101347149 single base substitution C T intron_variant MELA-AU 8 101347176 101347176 single base substitution C T intron_variant MELA-AU 8 101347232 101347232 single base substitution A C intron_variant MELA-AU 8 101347499 101347499 single base substitution A G intron_variant MELA-AU 8 101347580 101347580 single base substitution G A intron_variant MELA-AU 8 101347691 101347691 single base substitution G A intron_variant MELA-AU 8 101347791 101347791 single base substitution G A intron_variant MELA-AU 8 101347958 101347958 single base substitution C T intron_variant MELA-AU 8 101348148 101348148 single base substitution C T intron_variant MELA-AU 8 101348297 101348297 single base substitution G A intron_variant MELA-AU 8 101348360 101348360 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 8 101348360 101348360 single base substitution G A exon_variant MELA-AU 8 101348384 101348384 single base substitution A G 5_prime_UTR_variant MELA-AU 8 101348384 101348384 single base substitution A G exon_variant MELA-AU 8 101348451 101348451 single base substitution C T upstream_gene_variant MELA-AU 8 101348664 101348664 single base substitution G A upstream_gene_variant MELA-AU 8 101348876 101348876 single base substitution T C upstream_gene_variant MELA-AU 8 101348921 101348921 single base substitution C T upstream_gene_variant MELA-AU 8 101348941 101348941 single base substitution G A upstream_gene_variant MELA-AU 8 101349574 101349574 single base substitution C T upstream_gene_variant MELA-AU 8 101350410 101350410 single base substitution T C upstream_gene_variant MELA-AU 8 101350453 101350453 single base substitution G A upstream_gene_variant MELA-AU 8 101350700 101350700 single base substitution C T upstream_gene_variant MELA-AU 8 101350727 101350727 single base substitution G A upstream_gene_variant MELA-AU 8 101350957 101350957 single base substitution C A upstream_gene_variant MELA-AU 8 101351013 101351013 deletion of <=200bp G - upstream_gene_variant MELA-AU 8 101351062 101351062 single base substitution G A upstream_gene_variant MELA-AU 8 101351135 101351135 single base substitution G T upstream_gene_variant MELA-AU 8 101351169 101351169 single base substitution G A upstream_gene_variant MELA-AU 8 101351789 101351789 single base substitution A G upstream_gene_variant MELA-AU 8 101351990 101351990 single base substitution C T upstream_gene_variant MELA-AU 8 101352020 101352020 single base substitution C T upstream_gene_variant MELA-AU 8 101352134 101352134 single base substitution T C upstream_gene_variant MELA-AU 8 101352176 101352176 single base substitution C T upstream_gene_variant MELA-AU 8 101352428 101352428 single base substitution C T upstream_gene_variant MELA-AU 8 101352511 101352511 single base substitution T G upstream_gene_variant MELA-AU 8 101352611 101352611 single base substitution G A upstream_gene_variant MELA-AU 8 101352755 101352755 single base substitution G A upstream_gene_variant MELA-AU 8 101353102 101353102 single base substitution G A upstream_gene_variant MELA-AU 8 101353132 101353132 single base substitution G A upstream_gene_variant MELA-AU 8 101353168 101353168 single base substitution C T upstream_gene_variant MELA-AU 8 101353247 101353247 single base substitution C T upstream_gene_variant MELA-AU 8 101353399 101353399 single base substitution C T upstream_gene_variant ORCA-IN 8 101277003 101277003 single base substitution C T downstream_gene_variant ORCA-IN 8 101277003 101277003 single base substitution C T exon_variant ORCA-IN 8 101277003 101277003 single base substitution C T missense_variant R401H 1202G>A ORCA-IN 8 101277003 101277003 single base substitution C T upstream_gene_variant ORCA-IN 8 101289786 101289786 single base substitution C T intron_variant ORCA-IN 8 101289786 101289786 single base substitution C T upstream_gene_variant ORCA-IN 8 101346398 101346398 single base substitution C T intron_variant OV-AU 8 101274232 101274232 single base substitution A G intron_variant OV-AU 8 101274232 101274232 single base substitution A G upstream_gene_variant OV-AU 8 101276360 101276360 single base substitution C A downstream_gene_variant OV-AU 8 101276360 101276360 single base substitution C A exon_variant OV-AU 8 101276360 101276360 single base substitution C A intron_variant OV-AU 8 101276360 101276360 single base substitution C A missense_variant S457I 1370G>T OV-AU 8 101276360 101276360 single base substitution C A upstream_gene_variant OV-AU 8 101276874 101276874 single base substitution T C downstream_gene_variant OV-AU 8 101276874 101276874 single base substitution T C intron_variant OV-AU 8 101276874 101276874 single base substitution T C upstream_gene_variant OV-AU 8 101278115 101278115 single base substitution G C downstream_gene_variant OV-AU 8 101278115 101278115 single base substitution G C intron_variant OV-AU 8 101278115 101278115 single base substitution G C upstream_gene_variant OV-AU 8 101279247 101279247 single base substitution T C downstream_gene_variant OV-AU 8 101279247 101279247 single base substitution T C intron_variant OV-AU 8 101279247 101279247 single base substitution T C upstream_gene_variant OV-AU 8 101282486 101282486 single base substitution A G intron_variant OV-AU 8 101282486 101282486 single base substitution A G upstream_gene_variant OV-AU 8 101287208 101287223 deletion of <=200bp TAATGGATGAAGAACG - exon_variant OV-AU 8 101287208 101287223 deletion of <=200bp TAATGGATGAAGAACG - frameshift_variant RSSSIS281 OV-AU 8 101290897 101290897 single base substitution T C intron_variant OV-AU 8 101290897 101290897 single base substitution T C upstream_gene_variant OV-AU 8 101293654 101293654 single base substitution T G intron_variant OV-AU 8 101303274 101303274 single base substitution T C intron_variant OV-AU 8 101307924 101307924 single base substitution C T downstream_gene_variant OV-AU 8 101307924 101307924 single base substitution C T intron_variant OV-AU 8 101307988 101307988 single base substitution C G downstream_gene_variant OV-AU 8 101307988 101307988 single base substitution C G intron_variant OV-AU 8 101311252 101311252 single base substitution T G downstream_gene_variant OV-AU 8 101311252 101311252 single base substitution T G intron_variant OV-AU 8 101311942 101311942 single base substitution T C downstream_gene_variant OV-AU 8 101311942 101311942 single base substitution T C intron_variant OV-AU 8 101318460 101318460 single base substitution T C intron_variant OV-AU 8 101318460 101318460 single base substitution T C upstream_gene_variant OV-AU 8 101322300 101322300 single base substitution G A 5_prime_UTR_variant OV-AU 8 101322300 101322300 single base substitution G A exon_variant OV-AU 8 101322300 101322300 single base substitution G A intron_variant OV-AU 8 101322300 101322300 single base substitution G A upstream_gene_variant OV-AU 8 101322330 101322330 single base substitution C T 5_prime_UTR_variant OV-AU 8 101322330 101322330 single base substitution C T exon_variant OV-AU 8 101322330 101322330 single base substitution C T intron_variant OV-AU 8 101322330 101322330 single base substitution C T upstream_gene_variant OV-AU 8 101322713 101322713 single base substitution C G intron_variant OV-AU 8 101322713 101322713 single base substitution C G upstream_gene_variant OV-AU 8 101328586 101328586 single base substitution G A intron_variant OV-AU 8 101328816 101328816 single base substitution G A intron_variant OV-AU 8 101330801 101330801 single base substitution A G intron_variant OV-AU 8 101332355 101332355 single base substitution T G intron_variant OV-AU 8 101337192 101337192 single base substitution T C intron_variant OV-AU 8 101340979 101340979 single base substitution T A intron_variant OV-AU 8 101345354 101345354 single base substitution G C intron_variant OV-AU 8 101348603 101348603 single base substitution C G upstream_gene_variant OV-AU 8 101351818 101351818 single base substitution T C upstream_gene_variant OV-US 8 101299871 101299871 single base substitution C T downstream_gene_variant OV-US 8 101299871 101299871 single base substitution C T missense_variant E178K 532G>A PACA-AU 8 101268690 101268690 single base substitution G T downstream_gene_variant PACA-AU 8 101271563 101271563 single base substitution A T downstream_gene_variant PACA-AU 8 101271563 101271563 single base substitution A T intron_variant PACA-AU 8 101271729 101271729 single base substitution A G downstream_gene_variant PACA-AU 8 101271729 101271729 single base substitution A G intron_variant PACA-AU 8 101274248 101274248 single base substitution G A intron_variant PACA-AU 8 101274248 101274248 single base substitution G A upstream_gene_variant PACA-AU 8 101278384 101278384 single base substitution C T downstream_gene_variant PACA-AU 8 101278384 101278384 single base substitution C T intron_variant PACA-AU 8 101278384 101278384 single base substitution C T upstream_gene_variant PACA-AU 8 101287229 101287229 single base substitution T C exon_variant PACA-AU 8 101287229 101287229 single base substitution T C missense_variant T279A 835A>G PACA-AU 8 101287566 101287566 single base substitution G A intron_variant PACA-AU 8 101287566 101287566 single base substitution G A upstream_gene_variant PACA-AU 8 101294016 101294016 single base substitution C G intron_variant PACA-AU 8 101295578 101295578 single base substitution C G downstream_gene_variant PACA-AU 8 101295578 101295578 single base substitution C G intron_variant PACA-AU 8 101301979 101301990 deletion of <=200bp CAGAGATGCCCT - intron_variant PACA-AU 8 101304075 101304075 single base substitution A C intron_variant PACA-AU 8 101304763 101304763 single base substitution G A intron_variant PACA-AU 8 101310828 101310828 single base substitution T C downstream_gene_variant PACA-AU 8 101310828 101310828 single base substitution T C intron_variant PACA-AU 8 101310921 101310921 single base substitution G C downstream_gene_variant PACA-AU 8 101310921 101310921 single base substitution G C intron_variant PACA-AU 8 101311002 101311002 single base substitution A C downstream_gene_variant PACA-AU 8 101311002 101311002 single base substitution A C intron_variant PACA-AU 8 101312000 101312000 single base substitution G A downstream_gene_variant PACA-AU 8 101312000 101312000 single base substitution G A intron_variant PACA-AU 8 101312700 101312700 single base substitution G C downstream_gene_variant PACA-AU 8 101312700 101312700 single base substitution G C intron_variant PACA-AU 8 101313753 101313753 single base substitution G C intron_variant PACA-AU 8 101315831 101315831 single base substitution C G intron_variant PACA-AU 8 101315831 101315831 single base substitution C G upstream_gene_variant PACA-AU 8 101320624 101320624 single base substitution G C intron_variant PACA-AU 8 101324575 101324575 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 8 101324575 101324575 single base substitution T C intron_variant PACA-AU 8 101324575 101324575 single base substitution T C upstream_gene_variant PACA-AU 8 101324853 101324853 single base substitution G A intron_variant PACA-AU 8 101324853 101324853 single base substitution G A upstream_gene_variant PACA-AU 8 101330613 101330613 single base substitution G T intron_variant PACA-AU 8 101334517 101334517 single base substitution C T intron_variant PACA-AU 8 101337473 101337473 single base substitution G T intron_variant PACA-AU 8 101339947 101339947 single base substitution T A intron_variant PACA-AU 8 101342024 101342024 single base substitution G A intron_variant PACA-AU 8 101342675 101342675 single base substitution G A intron_variant PACA-AU 8 101345442 101345442 single base substitution T C intron_variant PACA-AU 8 101346561 101346561 single base substitution T G intron_variant PACA-CA 8 101266987 101266987 single base substitution A G downstream_gene_variant PACA-CA 8 101273523 101273523 single base substitution G A downstream_gene_variant PACA-CA 8 101273523 101273523 single base substitution G A intron_variant PACA-CA 8 101273523 101273523 single base substitution G A upstream_gene_variant PACA-CA 8 101275873 101275873 single base substitution C T downstream_gene_variant PACA-CA 8 101275873 101275873 single base substitution C T intron_variant PACA-CA 8 101275873 101275873 single base substitution C T upstream_gene_variant PACA-CA 8 101278834 101278834 single base substitution G A downstream_gene_variant PACA-CA 8 101278834 101278834 single base substitution G A intron_variant PACA-CA 8 101278834 101278834 single base substitution G A upstream_gene_variant PACA-CA 8 101279521 101279521 single base substitution C T downstream_gene_variant PACA-CA 8 101279521 101279521 single base substitution C T intron_variant PACA-CA 8 101279521 101279521 single base substitution C T upstream_gene_variant PACA-CA 8 101286883 101286883 single base substitution G A intron_variant PACA-CA 8 101288707 101288707 single base substitution T C intron_variant PACA-CA 8 101288707 101288707 single base substitution T C upstream_gene_variant PACA-CA 8 101293241 101293241 single base substitution T G intron_variant PACA-CA 8 101299004 101299004 single base substitution T G downstream_gene_variant PACA-CA 8 101299004 101299004 single base substitution T G intron_variant PACA-CA 8 101299327 101299327 single base substitution C T downstream_gene_variant PACA-CA 8 101299327 101299327 single base substitution C T intron_variant PACA-CA 8 101302757 101302759 deletion of <=200bp CCT - intron_variant PACA-CA 8 101310461 101310461 single base substitution A T downstream_gene_variant PACA-CA 8 101310461 101310461 single base substitution A T intron_variant PACA-CA 8 101316166 101316166 deletion of <=200bp A - intron_variant PACA-CA 8 101316166 101316166 deletion of <=200bp A - upstream_gene_variant PACA-CA 8 101328911 101328911 single base substitution C T intron_variant PACA-CA 8 101336625 101336633 deletion of <=200bp CCTTAATAT - intron_variant PACA-CA 8 101342176 101342176 single base substitution T G intron_variant PACA-CA 8 101342268 101342268 single base substitution G T intron_variant PACA-CA 8 101345348 101345348 single base substitution G A intron_variant PACA-CA 8 101347328 101347328 single base substitution A G intron_variant PACA-CA 8 101352370 101352370 single base substitution T C upstream_gene_variant PACA-CA 8 101352388 101352388 single base substitution C T upstream_gene_variant PAEN-AU 8 101271295 101271295 single base substitution G C downstream_gene_variant PAEN-AU 8 101271295 101271295 single base substitution G C exon_variant PAEN-AU 8 101271295 101271295 single base substitution G C missense_variant A669G 2006C>G PAEN-AU 8 101317408 101317408 single base substitution G T intron_variant PAEN-AU 8 101317408 101317408 single base substitution G T upstream_gene_variant PAEN-AU 8 101340786 101340786 single base substitution A C intron_variant PAEN-IT 8 101324099 101324099 single base substitution C T intron_variant PAEN-IT 8 101324099 101324099 single base substitution C T upstream_gene_variant PAEN-IT 8 101327071 101327071 single base substitution T A intron_variant PAEN-IT 8 101327071 101327071 single base substitution T A upstream_gene_variant PAEN-IT 8 101331330 101331330 single base substitution C A intron_variant PBCA-DE 8 101277864 101277864 single base substitution A T downstream_gene_variant PBCA-DE 8 101277864 101277864 single base substitution A T intron_variant PBCA-DE 8 101277864 101277864 single base substitution A T upstream_gene_variant PBCA-DE 8 101279939 101279939 deletion of <=200bp T - downstream_gene_variant PBCA-DE 8 101279939 101279939 deletion of <=200bp T - intron_variant PBCA-DE 8 101279939 101279939 deletion of <=200bp T - upstream_gene_variant PBCA-DE 8 101288204 101288204 insertion of <=200bp - T intron_variant PBCA-DE 8 101288204 101288204 insertion of <=200bp - T upstream_gene_variant PBCA-DE 8 101294620 101294620 single base substitution C A intron_variant PBCA-DE 8 101294934 101294934 single base substitution C T downstream_gene_variant PBCA-DE 8 101294934 101294934 single base substitution C T intron_variant PBCA-DE 8 101298336 101298336 single base substitution T A downstream_gene_variant PBCA-DE 8 101298336 101298336 single base substitution T A intron_variant PBCA-DE 8 101304178 101304178 single base substitution C G intron_variant PBCA-DE 8 101322293 101322293 single base substitution G C 5_prime_UTR_variant PBCA-DE 8 101322293 101322293 single base substitution G C exon_variant PBCA-DE 8 101322293 101322293 single base substitution G C intron_variant PBCA-DE 8 101322293 101322293 single base substitution G C upstream_gene_variant PBCA-DE 8 101324921 101324921 single base substitution G T intron_variant PBCA-DE 8 101324921 101324921 single base substitution G T upstream_gene_variant PBCA-DE 8 101332851 101332851 single base substitution C G intron_variant PBCA-DE 8 101336768 101336768 single base substitution C A intron_variant PRAD-CA 8 101269965 101269965 single base substitution C G 3_prime_UTR_variant PRAD-CA 8 101269965 101269965 single base substitution C G downstream_gene_variant PRAD-CA 8 101333754 101333754 single base substitution A G intron_variant PRAD-CA 8 101339111 101339111 single base substitution T C intron_variant PRAD-CA 8 101345973 101345973 single base substitution G T intron_variant PRAD-UK 8 101274573 101274573 single base substitution A T intron_variant PRAD-UK 8 101274573 101274573 single base substitution A T upstream_gene_variant PRAD-UK 8 101291734 101291747 deletion of <=200bp TGAGATTACAAGCG - intron_variant PRAD-UK 8 101291734 101291747 deletion of <=200bp TGAGATTACAAGCG - upstream_gene_variant PRAD-UK 8 101298357 101298357 single base substitution C A downstream_gene_variant PRAD-UK 8 101298357 101298357 single base substitution C A intron_variant PRAD-UK 8 101319016 101319016 single base substitution T G intron_variant PRAD-UK 8 101319016 101319016 single base substitution T G upstream_gene_variant PRAD-UK 8 101325907 101325907 single base substitution G A intron_variant PRAD-UK 8 101325907 101325907 single base substitution G A upstream_gene_variant PRAD-UK 8 101332271 101332271 single base substitution C T intron_variant PRAD-UK 8 101348980 101348980 single base substitution T C upstream_gene_variant RECA-EU 8 101267320 101267320 single base substitution C T downstream_gene_variant RECA-EU 8 101268039 101268039 single base substitution T A downstream_gene_variant RECA-EU 8 101272565 101272565 single base substitution A G downstream_gene_variant RECA-EU 8 101272565 101272565 single base substitution A G intron_variant RECA-EU 8 101272565 101272565 single base substitution A G upstream_gene_variant RECA-EU 8 101282857 101282857 single base substitution T C intron_variant RECA-EU 8 101282857 101282857 single base substitution T C upstream_gene_variant RECA-EU 8 101297851 101297851 single base substitution T C downstream_gene_variant RECA-EU 8 101297851 101297851 single base substitution T C intron_variant RECA-EU 8 101298564 101298564 single base substitution T C downstream_gene_variant RECA-EU 8 101298564 101298564 single base substitution T C intron_variant RECA-EU 8 101299583 101299583 single base substitution C G downstream_gene_variant RECA-EU 8 101299583 101299583 single base substitution C G intron_variant RECA-EU 8 101307961 101307961 single base substitution A T downstream_gene_variant RECA-EU 8 101307961 101307961 single base substitution A T intron_variant RECA-EU 8 101311432 101311432 single base substitution A G downstream_gene_variant RECA-EU 8 101311432 101311432 single base substitution A G intron_variant RECA-EU 8 101314592 101314592 single base substitution A T intron_variant RECA-EU 8 101316228 101316228 single base substitution T A intron_variant RECA-EU 8 101316228 101316228 single base substitution T A upstream_gene_variant RECA-EU 8 101316353 101316353 single base substitution T A intron_variant RECA-EU 8 101316353 101316353 single base substitution T A upstream_gene_variant RECA-EU 8 101319005 101319005 single base substitution A G intron_variant RECA-EU 8 101319005 101319005 single base substitution A G upstream_gene_variant RECA-EU 8 101328122 101328122 single base substitution T G intron_variant RECA-EU 8 101337444 101337444 single base substitution T A intron_variant RECA-EU 8 101346283 101346283 single base substitution G A intron_variant SKCA-BR 8 101265208 101265208 insertion of <=200bp - GA downstream_gene_variant SKCA-BR 8 101266157 101266157 single base substitution A G downstream_gene_variant SKCA-BR 8 101270290 101270290 single base substitution A C 3_prime_UTR_variant SKCA-BR 8 101270290 101270290 single base substitution A C downstream_gene_variant SKCA-BR 8 101279298 101279298 single base substitution C G downstream_gene_variant SKCA-BR 8 101279298 101279298 single base substitution C G intron_variant SKCA-BR 8 101279298 101279298 single base substitution C G upstream_gene_variant SKCA-BR 8 101279906 101279906 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 8 101279906 101279906 insertion of <=200bp - CT intron_variant SKCA-BR 8 101279906 101279906 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 8 101280911 101280912 deletion of <=200bp TA - exon_variant SKCA-BR 8 101280911 101280912 deletion of <=200bp TA - intron_variant SKCA-BR 8 101280911 101280912 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 8 101283383 101283383 single base substitution C T intron_variant SKCA-BR 8 101283383 101283383 single base substitution C T upstream_gene_variant SKCA-BR 8 101285365 101285365 single base substitution G A intron_variant SKCA-BR 8 101285365 101285365 single base substitution G A upstream_gene_variant SKCA-BR 8 101286235 101286235 single base substitution A C intron_variant SKCA-BR 8 101288972 101288972 single base substitution G A intron_variant SKCA-BR 8 101288972 101288972 single base substitution G A upstream_gene_variant SKCA-BR 8 101291182 101291182 single base substitution A T intron_variant SKCA-BR 8 101291182 101291182 single base substitution A T upstream_gene_variant SKCA-BR 8 101291439 101291439 single base substitution A T intron_variant SKCA-BR 8 101291439 101291439 single base substitution A T upstream_gene_variant SKCA-BR 8 101307040 101307040 single base substitution A C intron_variant SKCA-BR 8 101308701 101308701 single base substitution T C downstream_gene_variant SKCA-BR 8 101308701 101308701 single base substitution T C intron_variant SKCA-BR 8 101310888 101310888 single base substitution A C downstream_gene_variant SKCA-BR 8 101310888 101310888 single base substitution A C intron_variant SKCA-BR 8 101312971 101312971 single base substitution T G intron_variant SKCA-BR 8 101316102 101316102 single base substitution G A intron_variant SKCA-BR 8 101316102 101316102 single base substitution G A upstream_gene_variant SKCA-BR 8 101316103 101316103 single base substitution T G intron_variant SKCA-BR 8 101316103 101316103 single base substitution T G upstream_gene_variant SKCA-BR 8 101321700 101321700 single base substitution C T 5_prime_UTR_variant SKCA-BR 8 101321700 101321700 single base substitution C T intron_variant SKCA-BR 8 101323964 101323968 deletion of <=200bp AAAAG - intron_variant SKCA-BR 8 101323964 101323968 deletion of <=200bp AAAAG - upstream_gene_variant SKCA-BR 8 101325338 101325338 single base substitution C T intron_variant SKCA-BR 8 101325338 101325338 single base substitution C T upstream_gene_variant SKCA-BR 8 101326130 101326130 insertion of <=200bp - CT intron_variant SKCA-BR 8 101326130 101326130 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 8 101327077 101327077 single base substitution G A intron_variant SKCA-BR 8 101327077 101327077 single base substitution G A upstream_gene_variant SKCA-BR 8 101327265 101327265 single base substitution T G intron_variant SKCA-BR 8 101327265 101327265 single base substitution T G upstream_gene_variant SKCA-BR 8 101327629 101327629 single base substitution A G intron_variant SKCA-BR 8 101329927 101329927 single base substitution C T intron_variant SKCA-BR 8 101332112 101332112 single base substitution A G intron_variant SKCA-BR 8 101333067 101333067 single base substitution G A intron_variant SKCA-BR 8 101335206 101335206 single base substitution T G intron_variant SKCA-BR 8 101335315 101335315 single base substitution C T intron_variant SKCA-BR 8 101337994 101337994 insertion of <=200bp - TAC intron_variant SKCA-BR 8 101339328 101339328 single base substitution C G intron_variant SKCA-BR 8 101343196 101343196 single base substitution G A intron_variant SKCA-BR 8 101343197 101343197 single base substitution G A intron_variant SKCA-BR 8 101344235 101344235 single base substitution C T intron_variant SKCA-BR 8 101345165 101345165 single base substitution C T intron_variant SKCA-BR 8 101347087 101347087 single base substitution C T intron_variant SKCA-BR 8 101347088 101347088 single base substitution C T intron_variant SKCA-BR 8 101349004 101349004 single base substitution C T upstream_gene_variant SKCA-BR 8 101349430 101349430 single base substitution G A upstream_gene_variant SKCA-BR 8 101350526 101350526 single base substitution C T upstream_gene_variant SKCA-BR 8 101352200 101352200 single base substitution C T upstream_gene_variant SKCA-BR 8 101352543 101352543 single base substitution T G upstream_gene_variant SKCM-US 8 101270989 101270989 single base substitution G A downstream_gene_variant SKCM-US 8 101270989 101270989 single base substitution G A missense_variant S771F 2312C>T SKCM-US 8 101276378 101276378 single base substitution G A downstream_gene_variant SKCM-US 8 101276378 101276378 single base substitution G A exon_variant SKCM-US 8 101276378 101276378 single base substitution G A intron_variant SKCM-US 8 101276378 101276378 single base substitution G A missense_variant P451L 1352C>T SKCM-US 8 101276378 101276378 single base substitution G A upstream_gene_variant SKCM-US 8 101276405 101276405 single base substitution A G downstream_gene_variant SKCM-US 8 101276405 101276405 single base substitution A G exon_variant SKCM-US 8 101276405 101276405 single base substitution A G intron_variant SKCM-US 8 101276405 101276405 single base substitution A G missense_variant M442T 1325T>C SKCM-US 8 101276405 101276405 single base substitution A G upstream_gene_variant SKCM-US 8 101282222 101282222 single base substitution A T exon_variant SKCM-US 8 101282222 101282222 single base substitution A T stop_gained C301* 903T>A SKCM-US 8 101282222 101282222 single base substitution A T upstream_gene_variant SKCM-US 8 101300126 101300126 single base substitution T C downstream_gene_variant SKCM-US 8 101300126 101300126 single base substitution T C missense_variant S93G 277A>G SKCM-US 8 101300197 101300197 single base substitution G A downstream_gene_variant SKCM-US 8 101300197 101300197 single base substitution G A missense_variant S38F 113C>T SKCM-US 8 101300197 101300197 single base substitution G A missense_variant S69F 206C>T SKCM-US 8 101300206 101300206 single base substitution G A downstream_gene_variant SKCM-US 8 101300206 101300206 single base substitution G A missense_variant S35L 104C>T SKCM-US 8 101300206 101300206 single base substitution G A missense_variant S66L 197C>T SKCM-US 8 101300387 101300387 single base substitution T A intron_variant SKCM-US 8 101300387 101300387 single base substitution T A missense_variant I6L 16A>T STAD-US 8 101271043 101271043 single base substitution C T downstream_gene_variant STAD-US 8 101271043 101271043 single base substitution C T missense_variant R753H 2258G>A STAD-US 8 101271170 101271170 single base substitution G T downstream_gene_variant STAD-US 8 101271170 101271170 single base substitution G T exon_variant STAD-US 8 101271170 101271170 single base substitution G T missense_variant P711T 2131C>A STAD-US 8 101271373 101271373 single base substitution C T downstream_gene_variant STAD-US 8 101271373 101271373 single base substitution C T exon_variant STAD-US 8 101271373 101271373 single base substitution C T missense_variant R643Q 1928G>A STAD-US 8 101277003 101277003 single base substitution C T downstream_gene_variant STAD-US 8 101277003 101277003 single base substitution C T exon_variant STAD-US 8 101277003 101277003 single base substitution C T missense_variant R401H 1202G>A STAD-US 8 101277003 101277003 single base substitution C T upstream_gene_variant STAD-US 8 101300184 101300184 single base substitution C T downstream_gene_variant STAD-US 8 101300184 101300184 single base substitution C T synonymous_variant R42R 126G>A STAD-US 8 101300184 101300184 single base substitution C T synonymous_variant R73R 219G>A STAD-US 8 101300277 101300277 single base substitution T A downstream_gene_variant STAD-US 8 101300277 101300277 single base substitution T A synonymous_variant R11R 33A>T STAD-US 8 101300277 101300277 single base substitution T A synonymous_variant R42R 126A>T STAD-US 8 101300355 101300355 single base substitution C T downstream_gene_variant STAD-US 8 101300355 101300355 single base substitution C T intron_variant STAD-US 8 101300355 101300355 single base substitution C T synonymous_variant L16L 48G>A THCA-SA 8 101269872 101269872 single base substitution T C 3_prime_UTR_variant THCA-SA 8 101269872 101269872 single base substitution T C downstream_gene_variant UCEC-US 8 101271084 101271084 single base substitution C A downstream_gene_variant UCEC-US 8 101271084 101271084 single base substitution C A missense_variant M739I 2217G>T UCEC-US 8 101271122 101271122 single base substitution G T downstream_gene_variant UCEC-US 8 101271122 101271122 single base substitution G T exon_variant UCEC-US 8 101271122 101271122 single base substitution G T missense_variant H727N 2179C>A UCEC-US 8 101271182 101271182 single base substitution C A downstream_gene_variant UCEC-US 8 101271182 101271182 single base substitution C A exon_variant UCEC-US 8 101271182 101271182 single base substitution C A stop_gained E707* 2119G>T UCEC-US 8 101271192 101271192 single base substitution C T downstream_gene_variant UCEC-US 8 101271192 101271192 single base substitution C T exon_variant UCEC-US 8 101271192 101271192 single base substitution C T synonymous_variant T703T 2109G>A UCEC-US 8 101271291 101271291 single base substitution C A downstream_gene_variant UCEC-US 8 101271291 101271291 single base substitution C A exon_variant UCEC-US 8 101271291 101271291 single base substitution C A synonymous_variant G670G 2010G>T UCEC-US 8 101276385 101276385 single base substitution C T downstream_gene_variant UCEC-US 8 101276385 101276385 single base substitution C T exon_variant UCEC-US 8 101276385 101276385 single base substitution C T intron_variant UCEC-US 8 101276385 101276385 single base substitution C T missense_variant V449I 1345G>A UCEC-US 8 101276385 101276385 single base substitution C T upstream_gene_variant UCEC-US 8 101276971 101276971 single base substitution G A downstream_gene_variant UCEC-US 8 101276971 101276971 single base substitution G A exon_variant UCEC-US 8 101276971 101276971 single base substitution G A missense_variant R412W 1234C>T UCEC-US 8 101276971 101276971 single base substitution G A upstream_gene_variant UCEC-US 8 101281038 101281038 single base substitution C T exon_variant UCEC-US 8 101281038 101281038 single base substitution C T missense_variant G389D 1166G>A UCEC-US 8 101281038 101281038 single base substitution C T upstream_gene_variant UCEC-US 8 101287222 101287222 single base substitution C T exon_variant UCEC-US 8 101287222 101287222 single base substitution C T missense_variant R281H 842G>A UCEC-US 8 101287351 101287351 single base substitution T G missense_variant K238T 713A>C UCEC-US 8 101287351 101287351 single base substitution T G upstream_gene_variant UCEC-US 8 101299857 101299857 single base substitution C T downstream_gene_variant UCEC-US 8 101299857 101299857 single base substitution C T synonymous_variant R182R 546G>A UCEC-US 8 101300278 101300278 single base substitution C T downstream_gene_variant UCEC-US 8 101300278 101300278 single base substitution C T missense_variant R11Q 32G>A UCEC-US 8 101300278 101300278 single base substitution C T missense_variant R42Q 125G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-DK-A3IN-01 COSM3778783 c.1991C>T p.S664F Substitution - Missense 8:100259082-100259082 - Au5 COSM5606027 c.363C>T p.S121S Substitution - coding silent 8:100287812-100287812 - NPC26F COSM4996885 c.2137C>T p.L713F Substitution - Missense 8:100258936-100258936 - TCGA-AP-A059-01 COSM1094337 c.713A>C p.K238T Substitution - Missense 8:100275123-100275123 - HCC157 COSM3663464 c.1998A>G p.E666E Substitution - coding silent 8:100259075-100259075 - CSCC-56-T COSM3643289 c.206C>T p.S69F Substitution - Missense 8:100287969-100287969 - YUSMI COSM5408472 c.1049G>A p.W350* Substitution - Nonsense 8:100268927-100268927 - ccRCC-94 COSM1663938 c.1873T>C p.S625P Substitution - Missense 8:100259200-100259200 - T3024 COSM1453641 c.187delA p.R63fs*5 Deletion - Frameshift 8:100287988-100287988 - TCGA-GN-A269-01 COSM3643287 c.1325T>C p.M442T Substitution - Missense 8:100264177-100264177 - CHC1052T COSM3669819 c.642T>A p.P214P Substitution - coding silent 8:100287533-100287533 - TCGA-09-2056-01 COSM72457 c.926T>A p.I309K Substitution - Missense 8:100269971-100269971 - TCGA-D1-A17Q-01 COSM1094335 c.1166G>A p.G389D Substitution - Missense 8:100268810-100268810 - HCC134T COSM1623431 c.1419A>C p.E473D Substitution - Missense 8:100264083-100264083 - PD4978a COSM5785181 c.1306+5G>A p.? Unknown 8:100264666-100264666 - TCGA-A5-A0VQ-01 COSM1094334 c.1234C>T p.R412W Substitution - Missense 8:100264743-100264743 - TCGA-EW-A1P8-01 COSM1488847 c.1941C>G p.G647G Substitution - coding silent 8:100259132-100259132 - B66-Tumor COSM1755482 c.886G>A p.D296N Substitution - Missense 8:100270011-100270011 - S02248 COSM5679846 c.1516G>C p.G506R Substitution - Missense 8:100261708-100261708 - C089 COSM3643290 c.197C>T p.S66L Substitution - Missense 8:100287978-100287978 - TCGA-FR-A3YN-06 COSM3643291 c.16A>T p.I6L Substitution - Missense 8:100288159-100288159 - TCGA-JW-A5VL-01 COSM4847259 c.2320C>G p.Q774E Substitution - Missense 8:100258753-100258753 - TCGA-D9-A6EC-06 COSM4402883 c.277A>G p.S93G Substitution - Missense 8:100287898-100287898 - YUISKIA COSM1700429 c.278G>A p.S93N Substitution - Missense 8:100287897-100287897 - CHC451T COSM4957323 c.110A>T p.Q37L Substitution - Missense 8:100288065-100288065 - TCGA-UB-A7MB-01 COSM4931497 c.785A>T p.Q262L Substitution - Missense 8:100275051-100275051 - HCC157T COSM3663464 c.1998A>G p.E666E Substitution - coding silent 8:100259075-100259075 - TCGA-G4-6320-01 COSM3698743 c.339C>A p.T113T Substitution - coding silent 8:100287836-100287836 - Detroit_562 COSM3269107 c.2447T>C p.L816P Substitution - Missense 8:100258626-100258626 - AOCS-088-3-8 COSM4149458 c.1370G>T p.S457I Substitution - Missense 8:100264132-100264132 - BD57T COSM3269121 c.1714C>T p.R572W Substitution - Missense 8:100259966-100259966 - ZZUFHECRKL-G032T COSM5432715 c.1827-11_1827-10delTT p.? Unknown 8:100259256-100259257 - TCGA-GM-A2DB-01 COSM3833746 c.1771G>A p.A591T Substitution - Missense 8:100259909-100259909 - TCGA-CA-6717-01 COSM1453640 c.188G>T p.R63I Substitution - Missense 8:100287987-100287987 - pfg043T COSM4747672 c.1319delC p.P440fs*4 Deletion - Frameshift 8:100264183-100264183 - RK216_C01 COSM3768621 c.676T>C p.Y226H Substitution - Missense 8:100275160-100275160 - TCGA-24-1425-01 COSM76262 c.532G>A p.E178K Substitution - Missense 8:100287643-100287643 - TCGA-BH-A0B6-01 COSM3833745 c.1827-3C>A p.? Unknown 8:100259249-100259249 - TCGA-D1-A17Q-01 COSM1094329 c.2217G>T p.M739I Substitution - Missense 8:100258856-100258856 - TCGA-D1-A0ZO-01 COSM1094332 c.2066C>T p.T689M Substitution - Missense 8:100259007-100259007 - 2293782 COSM4609362 c.96G>T p.M32I Substitution - Missense 8:100288079-100288079 - Pat_40_A COSM5873617 c.674+2delT p.? Unknown 8:100287499-100287499 - TCGA-HU-A4H8-01 COSM167522 c.1928G>A p.R643Q Substitution - Missense 8:100259145-100259145 - TCGA-BR-4201-01 COSM3884173 c.48G>A p.L16L Substitution - coding silent 8:100288127-100288127 - SC_9017 COSM5559584 c.1327T>A p.L443I Substitution - Missense 8:100264175-100264175 - HCC060T COSM5818046 c.583G>A p.D195N Substitution - Missense 8:100287592-100287592 - CSCC-55-T COSM4451841 c.1431A>T p.E477D Substitution - Missense 8:100264071-100264071 - ACINAR01 COSM1732727 c.1126G>A p.A376T Substitution - Missense 8:100268850-100268850 - PT24_1 COSM5904325 c.1282C>T p.P428S Substitution - Missense 8:100264695-100264695 - T155 COSM1176835 c.1430A>G p.E477G Substitution - Missense 8:100264072-100264072 - LIM2551 COSM4644825 c.1360C>G p.L454V Substitution - Missense 8:100264142-100264142 - TCGA-AO-A0J9-01 COSM453746 c.1756A>G p.T586A Substitution - Missense 8:100259924-100259924 - CHC451T COSM4957323 c.110A>T p.Q37L Substitution - Missense 8:100288065-100288065 - 8013014 COSM218938 c.835A>G p.T279A Substitution - Missense 8:100275001-100275001 - B74-Tumor COSM4006810 c.329C>T p.S110F Substitution - Missense 8:100287846-100287846 - 587222 COSM1223949 c.1921G>A p.A641T Substitution - Missense 8:100259152-100259152 - B66 COSM1755482 c.886G>A p.D296N Substitution - Missense 8:100270011-100270011 - TCGA-BR-8588-01 COSM3884172 c.126A>T p.R42R Substitution - coding silent 8:100288049-100288049 - B104-0-Tumor COSM1755484 c.419C>G p.S140C Substitution - Missense 8:100287756-100287756 - pfg143T COSM1453641 c.187delA p.R63fs*5 Deletion - Frameshift 8:100287988-100287988 - TCGA-FW-A3R5-06 COSM3924394 c.1352C>T p.P451L Substitution - Missense 8:100264150-100264150 - ESO-601 COSM1264371 c.1816C>T p.P606S Substitution - Missense 8:100259864-100259864 - TCGA-BS-A0UF-01 COSM1094333 c.2010G>T p.G670G Substitution - coding silent 8:100259063-100259063 - GC3_T COSM3748944 c.1968T>G p.G656G Substitution - coding silent 8:100259105-100259105 - TCGA-DU-8158-01 COSM3929315 c.826C>T p.R276C Substitution - Missense 8:100275010-100275010 - PD7066a COSM5772265 c.27C>G p.I9M Substitution - Missense 8:100288148-100288148 - RK212_C01 COSM3768622 c.316A>C p.N106H Substitution - Missense 8:100287859-100287859 - T3724 COSM1453641 c.187delA p.R63fs*5 Deletion - Frameshift 8:100287988-100287988 - TCGA-BR-8360-01 COSM3884170 c.2131C>A p.P711T Substitution - Missense 8:100258942-100258942 - HCC045T COSM5803731 c.1468+4A>C p.? Unknown 8:100264030-100264030 - HCC2998 COSM3269143 c.214C>T p.R72W Substitution - Missense 8:100287961-100287961 - TCGA-FS-A1ZZ-06 COSM3643290 c.197C>T p.S66L Substitution - Missense 8:100287978-100287978 - LP6005334-DNA_A04 COSM4412363 c.823T>A p.L275I Substitution - Missense 8:100275013-100275013 - TCGA-AP-A0LM-01 COSM1094339 c.125G>A p.R42Q Substitution - Missense 8:100288050-100288050 - TCGA-G9-6338-01 COSM3675020 c.556C>A p.H186N Substitution - Missense 8:100287619-100287619 - PT55 COSM5942213 c.2281C>T p.P761S Substitution - Missense 8:100258792-100258792 - pfg120T COSM4759457 c.114G>A p.M38I Substitution - Missense 8:100288061-100288061 - B105-0-Tumor COSM1755483 c.559G>A p.D187N Substitution - Missense 8:100287616-100287616 - TCGA-B9-A44B-01 COSM1094334 c.1234C>T p.R412W Substitution - Missense 8:100264743-100264743 - LS180 COSM1453641 c.187delA p.R63fs*5 Deletion - Frameshift 8:100287988-100287988 - 8057574 COSM218938 c.835A>G p.T279A Substitution - Missense 8:100275001-100275001 - T3225 COSM4722068 c.1789G>A p.A597T Substitution - Missense 8:100259891-100259891 - PR-04-639 COSM247068 c.1611C>T p.S537S Substitution - coding silent 8:100261613-100261613 - TCGA-A8-A0A6-01 COSM3833747 c.1527T>G p.G509G Substitution - coding silent 8:100261697-100261697 - TCGA-Q1-A5R2-01 COSM4850510 c.29C>G p.S10C Substitution - Missense 8:100288146-100288146 - pfg043T COSM4759455 c.1546A>C p.S516R Substitution - Missense 8:100261678-100261678 - TCGA-DK-A1AC-01 COSM1313538 c.391G>A p.E131K Substitution - Missense 8:100287784-100287784 - TCGA-BR-4184-01 COSM1453636 c.1202G>A p.R401H Substitution - Missense 8:100264775-100264775 - PT38 COSM5922704 c.2131C>T p.P711S Substitution - Missense 8:100258942-100258942 - TCGA-AO-A0JD-01 COSM453747 c.1515G>C p.E505D Substitution - Missense 8:100261709-100261709 - XHDG06 COSM1330405 c.256G>T p.G86C Substitution - Missense 8:100287919-100287919 - C662 COSM4443705 c.1259T>C p.V420A Substitution - Missense 8:100264718-100264718 - S02322 COSM3269110 c.2432A>G p.Y811C Substitution - Missense 8:100258641-100258641 - TCGA-FS-A1ZZ-06 COSM3643286 c.2312C>T p.S771F Substitution - Missense 8:100258761-100258761 - T3064 COSM4722070 c.1414A>T p.I472F Substitution - Missense 8:100264088-100264088 - ICGC_0042 COSM218938 c.835A>G p.T279A Substitution - Missense 8:100275001-100275001 - Malme-3M COSM1674044 c.548T>A p.F183Y Substitution - Missense 8:100287627-100287627 - T2940 COSM4722071 c.1263G>A p.T421T Substitution - coding silent 8:100264714-100264714 - TCGA-DK-A3IN-01 COSM3778782 c.2320C>T p.Q774* Substitution - Nonsense 8:100258753-100258753 - TCGA-02-0047-01 COSM3412610 c.1571G>A p.R524Q Substitution - Missense 8:100261653-100261653 - T3152 COSM1453641 c.187delA p.R63fs*5 Deletion - Frameshift 8:100287988-100287988 - TCGA-AP-A056-01 COSM1094336 c.842G>A p.R281H Substitution - Missense 8:100274994-100274994 - TCGA-BR-4184-01 COSM3884169 c.2258G>A p.R753H Substitution - Missense 8:100258815-100258815 - TCGA-BR-8487-01 COSM3884171 c.219G>A p.R73R Substitution - coding silent 8:100287956-100287956 - OSCC-GB_00690111 COSM1453636 c.1202G>A p.R401H Substitution - Missense 8:100264775-100264775 - BN20T COSM1623430 c.1540A>G p.S514G Substitution - Missense 8:100261684-100261684 - 24T COSM108826 c.2452G>A p.E818K Substitution - Missense 8:100258621-100258621 - TCGA-AX-A06H-01 COSM1094338 c.546G>A p.R182R Substitution - coding silent 8:100287629-100287629 - SA097 COSM213651 c.1816C>G p.P606A Substitution - Missense 8:100259864-100259864 - LS174T COSM1453641 c.187delA p.R63fs*5 Deletion - Frameshift 8:100287988-100287988 - TCGA-60-2707-01 COSM748091 c.2389G>A p.E797K Substitution - Missense 8:100258684-100258684 - TCGA-A2-A0EX-01 COSM453748 c.254A>C p.N85T Substitution - Missense 8:100287921-100287921 - S02299 COSM5690908 c.651G>T p.R217S Substitution - Missense 8:100287524-100287524 - B104-0 COSM1755484 c.419C>G p.S140C Substitution - Missense 8:100287756-100287756 - TCGA-66-2778-01 COSM748088 c.730G>C p.E244Q Substitution - Missense 8:100275106-100275106 - LIM1899 COSM1732727 c.1126G>A p.A376T Substitution - Missense 8:100268850-100268850 - TCGA-61-1737-01 COSM1330405 c.256G>T p.G86C Substitution - Missense 8:100287919-100287919 - WA14 COSM241440 c.1763G>A p.S588N Substitution - Missense 8:100259917-100259917 - T3080 COSM4722072 c.754T>C p.Y252H Substitution - Missense 8:100275082-100275082 - ESO-187 COSM1264370 c.1187G>A p.R396H Substitution - Missense 8:100268789-100268789 - TCGA-AO-A128-01 COSM603417 c.1345G>A p.V449I Substitution - Missense 8:100264157-100264157 - sysucc-1497T COSM5764056 c.603C>T p.Y201Y Substitution - coding silent 8:100287572-100287572 - TCGA-B0-4841-01 COSM3367140 c.2059A>G p.N687D Substitution - Missense 8:100259014-100259014 - PD4937a COSM164058 c.2360C>T p.S787L Substitution - Missense 8:100258713-100258713 - Pat_26_A COSM5873616 c.1248_1249delAG p.A417fs*54 Deletion - Frameshift 8:100264728-100264729 - 1301T COSM5762622 c.2006C>G p.A669G Substitution - Missense 8:100259067-100259067 - TCGA-A8-A07L-01 COSM453745 c.1833C>T p.G611G Substitution - coding silent 8:100259240-100259240 - CHC1052T COSM3669819 c.642T>A p.P214P Substitution - coding silent 8:100287533-100287533 - TCGA-BK-A0CB-01 COSM1094330 c.2179C>A p.H727N Substitution - Missense 8:100258894-100258894 - TCGA-AX-A05Z-01 COSM199795 c.2109G>A p.T703T Substitution - coding silent 8:100258964-100258964 - CSCC-44-T COSM4491855 c.387C>T p.F129F Substitution - coding silent 8:100287788-100287788 - 418 COSM4431868 c.506A>G p.E169G Substitution - Missense 8:100287669-100287669 - Gp5D COSM3269144 c.203G>A p.G68D Substitution - Missense 8:100287972-100287972 - T407 COSM4722069 c.1604C>T p.T535M Substitution - Missense 8:100261620-100261620 - CSCC-55-T COSM4558444 c.768G>A p.Q256Q Substitution - coding silent 8:100275068-100275068 - SW48 COSM1453641 c.187delA p.R63fs*5 Deletion - Frameshift 8:100287988-100287988 - ATL081 COSM5710782 c.2324G>C p.C775S Substitution - Missense 8:100258749-100258749 - 587376 COSM1223950 c.2402A>C p.N801T Substitution - Missense 8:100258671-100258671 - TCGA-C5-A1BK-01 COSM4826266 c.1586G>A p.R529Q Substitution - Missense 8:100261638-100261638 - TCGA-FS-A1ZD-06 COSM3643289 c.206C>T p.S69F Substitution - Missense 8:100287969-100287969 - TCGA-AA-3562-01 COSM292534 c.1702G>T p.V568L Substitution - Missense 8:100259978-100259978 - YUKAT COSM5408471 c.1243G>A p.A415T Substitution - Missense 8:100264734-100264734 - HCC134 COSM1623431 c.1419A>C p.E473D Substitution - Missense 8:100264083-100264083 - TCGA-AP-A059-01 COSM603417 c.1345G>A p.V449I Substitution - Missense 8:100264157-100264157 - TCGA-B0-5098-01 COSM1496766 c.492G>A p.R164R Substitution - coding silent 8:100287683-100287683 - HCC095T COSM5811040 c.1152T>G p.P384P Substitution - coding silent 8:100268824-100268824 - TCGA-AY-6197-01 COSM1453636 c.1202G>A p.R401H Substitution - Missense 8:100264775-100264775 - TCGA-DD-A4NV-01 COSM4916319 c.1912G>T p.D638Y Substitution - Missense 8:100259161-100259161 - TCGA-EE-A29B-06 COSM3643288 c.903T>A p.C301* Substitution - Nonsense 8:100269994-100269994 - TCGA-85-6561-01 COSM748090 c.2067G>T p.T689T Substitution - coding silent 8:100259006-100259006 - B105-0 COSM1755483 c.559G>A p.D187N Substitution - Missense 8:100287616-100287616 - TCGA-34-5927-01 COSM748089 c.1128T>G p.A376A Substitution - coding silent 8:100268848-100268848 - Br27P COSM40553 c.469G>A p.D157N Substitution - Missense 8:100287706-100287706 - TCGA-B5-A11E-01 COSM1094331 c.2119G>T p.E707* Substitution - Nonsense 8:100258954-100258954 - Pat_41_B COSM5873615 c.2005G>A p.A669T Substitution - Missense 8:100259068-100259068 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.292843;Hs.292860;Hs.292873;Hs.292882 8q22 607119

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.A376A c.1128T>G 8 101281076 LUSC A C Synonymous p.A488A c.1464T>G 8 101276266 LUAD A G Missense p.M442T c.1325T>C 8 101276405 CM A T Missense p.I309K c.926T>A 8 101282199 OV A T Nonsense p.C301* c.903T>A 8 101282222 CM C A Missense p.V568L c.1702G>T 8 101272206 COREAD C A Synonymous p.T689T c.2067G>T 8 101271234 LUSC C G IntronicSNV . c.1307-171G>C 8 101276594 NSCLC C G Missense p.E244Q c.730G>C 8 101287334 LUSC C G Missense p.E270D c.810G>C 8 101287254 HNSC C G Missense p.E505D c.1515G>C 8 101273937 BRCA C G Missense p.E737Q c.2209G>C 8 101271092 LUAD C T Missense p.D215N c.643G>A 8 101299760 HNSC C T Missense p.E178K c.532G>A 8 101299871 OV C T Missense p.E202K c.604G>A 8 101299799 HNSC C T Missense p.E797K c.2389G>A 8 101270912 LUSC C T Missense p.R396H c.1187G>A 8 101281017 ESCA C T Missense p.R524Q c.1571G>A 8 101273881 GBM C T Missense p.S675N c.2024G>A 8 101271277 CM C T Missense p.V449I c.1345G>A 8 101276385 LUAD C T Synonymous p.L16L c.48G>A 8 101300355 STAD C T Synonymous p.R182R c.546G>A 8 101299857 UCEC G A Missense p.H745Y c.2233C>T 8 101271068 MM G A Missense p.P384S c.1150C>T 8 101281054 CM G A Missense p.P606S c.1816C>T 8 101272092 ESCA G A Missense p.R276C c.826C>T 8 101287238 LGG G A Missense p.R412W c.1234C>T 8 101276971 UCEC G A Missense p.S55L c.164C>T 8 101300239 ALL G A Missense p.S664F c.1991C>T 8 101271310 BLCA G A Missense p.S66L c.197C>T 8 101300206 CM G A Missense p.S69F c.206C>T 8 101300197 CM G A Missense p.S771F c.2312C>T 8 101270989 CM G A Missense p.S787L c.2360C>T 8 101270941 BRCA G A Nonsense p.Q774* c.2320C>T 8 101270981 BLCA G A Nonsense p.R456* c.1366C>T 8 101276364 CM G A Synonymous p.G611G c.1833C>T 8 101271468 BRCA G C Missense p.P606A c.1816C>G 8 101272092 BRCA G C Nonsense p.S81* c.242C>G 8 101300161 HNSC G C Synonymous p.G647G c.1941C>G 8 101271360 BRCA G T Missense p.H186N c.556C>A 8 101299847 PRAD G T Missense p.H727N c.2179C>A 8 101271122 UCEC T C Missense p.N687D c.2059A>G 8 101271242 RCCC T C Missense p.T279A c.835A>G 8 101287229 PAAD T C Missense p.T492A c.1474A>G 8 101273978 HNSC T C Missense p.T586A c.1756A>G 8 101272152 BRCA T G Missense p.N85T c.254A>C 8 101300149 BRCA