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 3 183225850 183225850 + Missense_Mutation SNP A A T TCGA-OR-A5JV-01A-11D-A29I-10 TCGA-OR-A5JV-10A-01D-A29L-10 g.chr3:183225850A>T c.906T>A c.(904-906)aaT>aaA p.N302K BLCA 3 183209739 183209739 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 g.chr3:183209739G>A c.1842C>T c.(1840-1842)atC>atT p.I614I BLCA 3 183209963 183209963 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr3:183209963G>A c.1618C>T c.(1618-1620)Ctg>Ttg p.L540L BLCA 3 183210302 183210302 + Missense_Mutation SNP C C T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr3:183210302C>T c.1544G>A c.(1543-1545)cGg>cAg p.R515Q BLCA 3 183211916 183211916 + Missense_Mutation SNP C C T TCGA-2F-A9KR-01A-11D-A38G-08 TCGA-2F-A9KR-10A-01D-A38J-08 g.chr3:183211916C>T c.1301G>A c.(1300-1302)aGa>aAa p.R434K BLCA 3 183211937 183211937 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 g.chr3:183211937C>G c.1280G>C c.(1279-1281)gGa>gCa p.G427A BLCA 3 183212027 183212027 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr3:183212027G>A c.1190C>T c.(1189-1191)tCg>tTg p.S397L BLCA 3 183217456 183217456 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr3:183217456C>G c.1069G>C c.(1069-1071)Gag>Cag p.E357Q BLCA 3 183217519 183217519 + Missense_Mutation SNP C C T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr3:183217519C>T c.1006G>A c.(1006-1008)Gag>Aag p.E336K BLCA 3 183217612 183217612 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr3:183217612T>A c.913A>T c.(913-915)Att>Ttt p.I305F BLCA 3 183225916 183225916 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr3:183225916G>A c.840C>T c.(838-840)ctC>ctT p.L280L BLCA 3 183225981 183225981 + Missense_Mutation SNP C C T TCGA-FD-A3N6-01A-11D-A21A-08 TCGA-FD-A3N6-10A-01D-A21A-08 g.chr3:183225981C>T c.775G>A c.(775-777)Gag>Aag p.E259K BLCA 3 183226087 183226087 + Missense_Mutation SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 g.chr3:183226087C>A c.669G>T c.(667-669)aaG>aaT p.K223N BLCA 3 183273151 183273151 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr3:183273151G>T c.291C>A c.(289-291)ttC>ttA p.F97L BRCA 3 183209733 183209733 + Silent SNP G G A TCGA-BH-A0E9-01B-11D-A10Y-09 TCGA-BH-A0E9-10A-01D-A110-09 g.chr3:183209733G>A c.1848C>T c.(1846-1848)ccC>ccT p.P616P BRCA 3 183209883 183209883 + Silent SNP C C A TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 g.chr3:183209883C>A c.1698G>T c.(1696-1698)cgG>cgT p.R566R BRCA 3 183217542 183217542 + Missense_Mutation SNP G G A TCGA-OL-A66J-01A-11D-A29N-09 TCGA-OL-A66J-10A-01D-A29N-09 g.chr3:183217542G>A c.983C>T c.(982-984)aCg>aTg p.T328M BRCA 3 183217570 183217570 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:183217570C>T c.955G>A c.(955-957)Gag>Aag p.E319K BRCA 3 183225934 183225934 + Silent SNP C C T TCGA-AR-A2LJ-01A-12D-A19Y-09 TCGA-AR-A2LJ-10A-01D-A19Y-09 g.chr3:183225934C>T c.822G>A c.(820-822)acG>acA p.T274T BRCA 3 183225935 183225935 + Missense_Mutation SNP G G A TCGA-A2-A0D2-01A-21W-A050-09 TCGA-A2-A0D2-10A-01W-A055-09 g.chr3:183225935G>A c.821C>T c.(820-822)aCg>aTg p.T274M BRCA 3 183226052 183226052 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr3:183226052A>C c.704T>G c.(703-705)gTg>gGg p.V235G CESC 3 183209823 183209823 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 g.chr3:183209823C>T c.1758G>A c.(1756-1758)ctG>ctA p.L586L CESC 3 183273245 183273245 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr3:183273245C>T c.197G>A c.(196-198)cGa>cAa p.R66Q CESC 3 183273417 183273417 + Missense_Mutation SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 g.chr3:183273417C>T c.25G>A c.(25-27)Gcc>Acc p.A9T COAD 3 183209777 183209777 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:183209777C>T c.1804G>A c.(1804-1806)Gtc>Atc p.V602I COAD 3 183209811 183209811 + Silent SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr3:183209811G>A c.1770C>T c.(1768-1770)tgC>tgT p.C590C COAD 3 183209864 183209864 + Missense_Mutation SNP T T G TCGA-AA-3994-01A-01W-1073-09 TCGA-AA-3994-10A-01W-1073-09 g.chr3:183209864T>G c.1717A>C c.(1717-1719)Atc>Ctc p.I573L COAD 3 183210426 183210426 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:183210426C>T c.1420G>A c.(1420-1422)Ggg>Agg p.G474R COAD 3 183211899 183211899 + Missense_Mutation SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:183211899T>C c.1318A>G c.(1318-1320)Acc>Gcc p.T440A COAD 3 183212015 183212015 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:183212015C>A c.1202G>T c.(1201-1203)tGg>tTg p.W401L COAD 3 183212027 183212027 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:183212027G>A c.1190C>T c.(1189-1191)tCg>tTg p.S397L COAD 3 183217382 183217382 + Silent SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:183217382G>T c.1143C>A c.(1141-1143)atC>atA p.I381I COAD 3 183217531 183217531 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr3:183217531G>A c.994C>T c.(994-996)Cgg>Tgg p.R332W COAD 3 183217608 183217608 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:183217608G>A c.917C>T c.(916-918)tCg>tTg p.S306L COAD 3 183225871 183225871 + Missense_Mutation SNP C C A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr3:183225871C>A c.885G>T c.(883-885)agG>agT p.R295S COAD 3 183273160 183273160 + Missense_Mutation SNP G G T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr3:183273160G>T c.282C>A c.(280-282)agC>agA p.S94R COAD 3 183273326 183273326 + Missense_Mutation SNP A A G TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr3:183273326A>G c.116T>C c.(115-117)gTc>gCc p.V39A COAD 3 183273330 183273330 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:183273330A>C c.112T>G c.(112-114)Ttg>Gtg p.L38V COADREAD 3 183209777 183209777 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:183209777C>T c.1804G>A c.(1804-1806)Gtc>Atc p.V602I COADREAD 3 183209811 183209811 + Silent SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr3:183209811G>A c.1770C>T c.(1768-1770)tgC>tgT p.C590C COADREAD 3 183209864 183209864 + Missense_Mutation SNP T T G TCGA-AA-3994-01A-01W-1073-09 TCGA-AA-3994-10A-01W-1073-09 g.chr3:183209864T>G c.1717A>C c.(1717-1719)Atc>Ctc p.I573L COADREAD 3 183210426 183210426 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:183210426C>T c.1420G>A c.(1420-1422)Ggg>Agg p.G474R COADREAD 3 183211899 183211899 + Missense_Mutation SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:183211899T>C c.1318A>G c.(1318-1320)Acc>Gcc p.T440A COADREAD 3 183212015 183212015 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:183212015C>A c.1202G>T c.(1201-1203)tGg>tTg p.W401L COADREAD 3 183212027 183212027 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:183212027G>A c.1190C>T c.(1189-1191)tCg>tTg p.S397L COADREAD 3 183217382 183217382 + Silent SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:183217382G>T c.1143C>A c.(1141-1143)atC>atA p.I381I COADREAD 3 183217531 183217531 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr3:183217531G>A c.994C>T c.(994-996)Cgg>Tgg p.R332W COADREAD 3 183217608 183217608 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:183217608G>A c.917C>T c.(916-918)tCg>tTg p.S306L COADREAD 3 183225871 183225871 + Missense_Mutation SNP C C A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr3:183225871C>A c.885G>T c.(883-885)agG>agT p.R295S COADREAD 3 183273160 183273160 + Missense_Mutation SNP G G T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr3:183273160G>T c.282C>A c.(280-282)agC>agA p.S94R COADREAD 3 183273326 183273326 + Missense_Mutation SNP A A G TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr3:183273326A>G c.116T>C c.(115-117)gTc>gCc p.V39A COADREAD 3 183273330 183273330 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:183273330A>C c.112T>G c.(112-114)Ttg>Gtg p.L38V DLBC 3 183209942 183209942 + Missense_Mutation SNP C C G TCGA-FF-8062-01A-11D-2210-10 TCGA-FF-8062-10A-01D-2210-10 g.chr3:183209942C>G c.1639G>C c.(1639-1641)Gag>Cag p.E547Q DLBC 3 183209942 183209942 + Missense_Mutation SNP C C T TCGA-GR-A4D9-01B-11D-A31X-10 TCGA-GR-A4D9-10A-01D-A31X-10 g.chr3:183209942C>T c.1639G>A c.(1639-1641)Gag>Aag p.E547K DLBC 3 183212058 183212058 + Missense_Mutation SNP T T C TCGA-GR-A4D6-01A-11D-A31X-10 TCGA-GR-A4D6-10A-01D-A31X-10 g.chr3:183212058T>C c.1159A>G c.(1159-1161)Aca>Gca p.T387A DLBC 3 183273170 183273170 + Missense_Mutation SNP G G A TCGA-FF-8047-01A-11D-2210-10 TCGA-FF-8047-10A-01D-2210-10 g.chr3:183273170G>A c.272C>T c.(271-273)gCc>gTc p.A91V DLBC 3 183273173 183273173 + Missense_Mutation SNP A A G TCGA-FM-8000-01A-11D-2210-10 TCGA-FM-8000-10A-01D-2210-10 g.chr3:183273173A>G c.269T>C c.(268-270)cTt>cCt p.L90P DLBC 3 183273174 183273174 + Missense_Mutation SNP G G A TCGA-FF-A7CW-01A-11D-A382-10 TCGA-FF-A7CW-10A-01D-A385-10 g.chr3:183273174G>A c.268C>T c.(268-270)Ctt>Ttt p.L90F DLBC 3 183273248 183273248 + Missense_Mutation SNP A A G TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr3:183273248A>G c.194T>C c.(193-195)cTg>cCg p.L65P ESCA 3 183209898 183209898 + Nonsense_Mutation SNP G G C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 g.chr3:183209898G>C c.1683C>G c.(1681-1683)taC>taG p.Y561* ESCA 3 183245687 183245687 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr3:183245687C>T c.405G>A c.(403-405)gcG>gcA p.A135A ESCA 3 183273193 183273193 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 g.chr3:183273193G>T c.249C>A c.(247-249)ttC>ttA p.F83L ESCA 3 183273292 183273292 + Silent SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 g.chr3:183273292G>A c.150C>T c.(148-150)gaC>gaT p.D50D GBM 3 183226008 183226008 + Nonsense_Mutation SNP G G A TCGA-06-5859-01A-01D-1696-08 TCGA-06-5859-10A-01D-1696-08 g.chr3:183226008G>A c.748C>T c.(748-750)Cga>Tga p.R250* GBMLGG 3 183209811 183209811 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:183209811G>A c.1770C>T c.(1768-1770)tgC>tgT p.C590C GBMLGG 3 183226008 183226008 + Nonsense_Mutation SNP G G A TCGA-06-5859-01A-01D-1696-08 TCGA-06-5859-10A-01D-1696-08 g.chr3:183226008G>A c.748C>T c.(748-750)Cga>Tga p.R250* GBMLGG 3 183273417 183273417 + Missense_Mutation SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 g.chr3:183273417C>T c.25G>A c.(25-27)Gcc>Acc p.A9T HNSC 3 183209891 183209891 + Missense_Mutation SNP C C T TCGA-CQ-5326-01A-01D-1870-08 TCGA-CQ-5326-10A-01D-1870-08 g.chr3:183209891C>T c.1690G>A c.(1690-1692)Ggc>Agc p.G564S HNSC 3 183210339 183210339 + Missense_Mutation SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 g.chr3:183210339G>A c.1507C>T c.(1507-1509)Ccc>Tcc p.P503S HNSC 3 183210454 183210454 + Silent SNP G G A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 g.chr3:183210454G>A c.1392C>T c.(1390-1392)acC>acT p.T464T HNSC 3 183217409 183217409 + Silent SNP G G A TCGA-IQ-A61E-01A-22D-A30E-08 TCGA-IQ-A61E-10A-01D-A30H-08 g.chr3:183217409G>A c.1116C>T c.(1114-1116)tgC>tgT p.C372C HNSC 3 183217505 183217505 + Silent SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr3:183217505C>T c.1020G>A c.(1018-1020)ctG>ctA p.L340L HNSC 3 183225976 183225976 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 g.chr3:183225976G>A c.780C>T c.(778-780)aaC>aaT p.N260N HNSC 3 183273362 183273362 + Missense_Mutation SNP G G C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 g.chr3:183273362G>C c.80C>G c.(79-81)tCt>tGt p.S27C KIPAN 3 183211912 183211912 + Silent SNP G G T TCGA-B0-5110-01A-01D-1421-08 TCGA-B0-5110-11A-01D-1421-08 g.chr3:183211912G>T c.1305C>A c.(1303-1305)atC>atA p.I435I KIPAN 3 183217550 183217550 + Silent SNP G G T TCGA-CJ-4643-01A-02D-1386-10 TCGA-CJ-4643-11A-01D-1251-10 g.chr3:183217550G>T c.975C>A c.(973-975)ggC>ggA p.G325G KIPAN 3 183226047 183226047 + Missense_Mutation SNP C C T TCGA-GL-A59T-01A-21D-A28G-10 TCGA-GL-A59T-10A-01D-A28G-10 g.chr3:183226047C>T c.709G>A c.(709-711)Gag>Aag p.E237K KIRC 3 183211912 183211912 + Silent SNP G G T TCGA-B0-5110-01A-01D-1421-08 TCGA-B0-5110-11A-01D-1421-08 g.chr3:183211912G>T c.1305C>A c.(1303-1305)atC>atA p.I435I KIRC 3 183217550 183217550 + Silent SNP G G T TCGA-CJ-4643-01A-02D-1386-10 TCGA-CJ-4643-11A-01D-1251-10 g.chr3:183217550G>T c.975C>A c.(973-975)ggC>ggA p.G325G KIRP 3 183226047 183226047 + Missense_Mutation SNP C C T TCGA-GL-A59T-01A-21D-A28G-10 TCGA-GL-A59T-10A-01D-A28G-10 g.chr3:183226047C>T c.709G>A c.(709-711)Gag>Aag p.E237K LGG 3 183209811 183209811 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:183209811G>A c.1770C>T c.(1768-1770)tgC>tgT p.C590C LGG 3 183273417 183273417 + Missense_Mutation SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 g.chr3:183273417C>T c.25G>A c.(25-27)Gcc>Acc p.A9T LIHC 3 183209884 183209884 + Missense_Mutation SNP C C A TCGA-G3-A5SJ-01A-11D-A27I-10 TCGA-G3-A5SJ-10A-01D-A27I-10 g.chr3:183209884C>A c.1697G>T c.(1696-1698)cGg>cTg p.R566L LIHC 3 183209982 183209982 + Silent SNP C C G TCGA-FV-A4ZQ-01A-11D-A25V-10 TCGA-FV-A4ZQ-10A-01D-A25V-10 g.chr3:183209982C>G c.1599G>C c.(1597-1599)ccG>ccC p.P533P LIHC 3 183210427 183210427 + Silent SNP G G T TCGA-CC-A7II-01A-11D-A33K-10 TCGA-CC-A7II-10A-01D-A33K-10 g.chr3:183210427G>T c.1419C>A c.(1417-1419)atC>atA p.I473I LIHC 3 183212026 183212026 + Silent SNP C C A TCGA-G3-AAV6-01A-21D-A36X-10 TCGA-G3-AAV6-10A-01D-A370-10 g.chr3:183212026C>A c.1191G>T c.(1189-1191)tcG>tcT p.S397S LUAD 3 183209738 183209738 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 g.chr3:183209738C>A c.1843G>T c.(1843-1845)Gtg>Ttg p.V615L LUAD 3 183209770 183209770 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr3:183209770A>T c.1811T>A c.(1810-1812)aTc>aAc p.I604N LUAD 3 183209920 183209920 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr3:183209920G>C c.1661C>G c.(1660-1662)gCg>gGg p.A554G LUAD 3 183210493 183210493 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr3:183210493G>T c.1353C>A c.(1351-1353)gcC>gcA p.A451A LUAD 3 183211915 183211915 + Missense_Mutation SNP T T A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 g.chr3:183211915T>A c.1302A>T c.(1300-1302)agA>agT p.R434S LUAD 3 183211924 183211924 + Silent SNP G G T TCGA-78-8660-01A-11D-2393-08 TCGA-78-8660-10A-01D-2393-08 g.chr3:183211924G>T c.1293C>A c.(1291-1293)ggC>ggA p.G431G LUAD 3 183211929 183211929 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr3:183211929C>T c.1288G>A c.(1288-1290)Gac>Aac p.D430N LUAD 3 183211960 183211960 + Missense_Mutation SNP C C A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr3:183211960C>A c.1257G>T c.(1255-1257)ttG>ttT p.L419F LUAD 3 183217479 183217479 + Missense_Mutation SNP T T C TCGA-50-5942-01A-21D-1753-08 TCGA-50-5942-10A-01D-1753-08 g.chr3:183217479T>C c.1046A>G c.(1045-1047)gAg>gGg p.E349G LUAD 3 183217574 183217574 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 g.chr3:183217574C>A c.951G>T c.(949-951)caG>caT p.Q317H LUAD 3 183217606 183217606 + Nonsense_Mutation SNP C C A TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr3:183217606C>A c.919G>T c.(919-921)Gaa>Taa p.E307* LUAD 3 183225911 183225911 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 g.chr3:183225911C>A c.845G>T c.(844-846)aGg>aTg p.R282M LUAD 3 183226083 183226083 + Missense_Mutation SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 g.chr3:183226083C>T c.673G>A c.(673-675)Gat>Aat p.D225N LUAD 3 183226293 183226293 + Missense_Mutation SNP G G T TCGA-50-5045-01A-01D-1625-08 TCGA-50-5045-10A-01D-1625-08 g.chr3:183226293G>T c.463C>A c.(463-465)Ctg>Atg p.L155M LUAD 3 183273205 183273205 + Missense_Mutation SNP G G T TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr3:183273205G>T c.237C>A c.(235-237)gaC>gaA p.D79E LUAD 3 183273217 183273217 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr3:183273217G>C c.225C>G c.(223-225)atC>atG p.I75M LUAD 3 183273227 183273234 + Frame_Shift_Del DEL GTCAGAGC GTCAGAGC - TCGA-55-A492-01A-11D-A24D-08 TCGA-55-A492-10A-01D-A24F-08 g.chr3:183273227_183273234delGTCAGAGC c.208_215delGCTCTGAC c.(208-216)gctctgacafs p.ALT70fs LUAD 3 183273319 183273319 + Silent SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 g.chr3:183273319G>T c.123C>A c.(121-123)atC>atA p.I41I LUSC 3 183209889 183209889 + Silent SNP G G A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 g.chr3:183209889G>A c.1692C>T c.(1690-1692)ggC>ggT p.G564G LUSC 3 183211925 183211925 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr3:183211925C>T c.1292G>A c.(1291-1293)gGc>gAc p.G431D LUSC 3 183226065 183226065 + Missense_Mutation SNP C C T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 g.chr3:183226065C>T c.691G>A c.(691-693)Gag>Aag p.E231K OV 3 183210290 183210290 + Missense_Mutation SNP T T C TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 g.chr3:183210290T>C c.1556A>G c.(1555-1557)tAt>tGt p.Y519C OV 3 183273208 183273208 + Silent SNP C C T TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 g.chr3:183273208C>T c.234G>A c.(232-234)gtG>gtA p.V78V PAAD 3 183209999 183209999 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:183209999G>A c.1582C>T c.(1582-1584)Ctg>Ttg p.L528L PAAD 3 183210391 183210391 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:183210391C>A c.1455G>T c.(1453-1455)aaG>aaT p.K485N PAAD 3 183225986 183225986 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:183225986A>G c.770T>C c.(769-771)gTc>gCc p.V257A PRAD 3 183210395 183210395 + Missense_Mutation SNP T T G TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 g.chr3:183210395T>G c.1451A>C c.(1450-1452)gAc>gCc p.D484A PRAD 3 183273149 183273149 + Splice_Site SNP C C G TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 g.chr3:183273149C>G c.293G>C c.(292-294)aGg>aCg p.R98T SARC 3 183211909 183211909 + Missense_Mutation SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 g.chr3:183211909G>T c.1308C>A c.(1306-1308)aaC>aaA p.N436K SARC 3 183211912 183211912 + Silent SNP G G A TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 g.chr3:183211912G>A c.1305C>T c.(1303-1305)atC>atT p.I435I SKCM 3 183209732 183209732 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:183209732C>T c.1849G>A c.(1849-1851)Gga>Aga p.G617R SKCM 3 183209742 183209742 + Silent SNP C C T TCGA-DA-A1HW-06A-11D-A19A-08 TCGA-DA-A1HW-10A-01D-A19A-08 g.chr3:183209742C>T c.1839G>A c.(1837-1839)agG>agA p.R613R SKCM 3 183209742 183209742 + Silent SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr3:183209742C>T c.1839G>A c.(1837-1839)agG>agA p.R613R SKCM 3 183209743 183209743 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr3:183209743C>T c.1838G>A c.(1837-1839)aGg>aAg p.R613K SKCM 3 183209862 183209862 + Silent SNP G G A TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr3:183209862G>A c.1719C>T c.(1717-1719)atC>atT p.I573I SKCM 3 183210292 183210292 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr3:183210292G>A c.1554C>T c.(1552-1554)atC>atT p.I518I SKCM 3 183210300 183210300 + Missense_Mutation SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr3:183210300C>T c.1546G>A c.(1546-1548)Gac>Aac p.D516N SKCM 3 183210442 183210442 + Silent SNP C C T TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr3:183210442C>T c.1404G>A c.(1402-1404)aaG>aaA p.K468K SKCM 3 183211937 183211937 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:183211937C>T c.1280G>A c.(1279-1281)gGa>gAa p.G427E SKCM 3 183211938 183211938 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:183211938C>T c.1279G>A c.(1279-1281)Gga>Aga p.G427R SKCM 3 183217380 183217380 + Missense_Mutation SNP G G A TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr3:183217380G>A c.1145C>T c.(1144-1146)tCa>tTa p.S382L SKCM 3 183217466 183217466 + Silent SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr3:183217466G>A c.1059C>T c.(1057-1059)ctC>ctT p.L353L SKCM 3 183217534 183217534 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr3:183217534C>T c.991G>A c.(991-993)Gaa>Aaa p.E331K SKCM 3 183217608 183217608 + Missense_Mutation SNP G G A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr3:183217608G>A c.917C>T c.(916-918)tCg>tTg p.S306L SKCM 3 183217613 183217613 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr3:183217613G>A c.912C>T c.(910-912)atC>atT p.I304I SKCM 3 183225903 183225903 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr3:183225903G>A c.853C>T c.(853-855)Cca>Tca p.P285S SKCM 3 183225904 183225904 + Missense_Mutation SNP G G C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr3:183225904G>C c.852C>G c.(850-852)tgC>tgG p.C284W SKCM 3 183226035 183226035 + Missense_Mutation SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:183226035T>C c.721A>G c.(721-723)Agc>Ggc p.S241G SKCM 3 183226039 183226039 + Silent SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr3:183226039C>T c.717G>A c.(715-717)gtG>gtA p.V239V SKCM 3 183226214 183226214 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:183226214G>A c.542C>T c.(541-543)gCt>gTt p.A181V SKCM 3 183245701 183245701 + Missense_Mutation SNP A A T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr3:183245701A>T c.391T>A c.(391-393)Tac>Aac p.Y131N SKCM 3 183273311 183273311 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr3:183273311C>T c.131G>A c.(130-132)gGg>gAg p.G44E

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 3 183217570 183217570 single base substitution C T exon_variant BLCA-CN 3 183217570 183217570 single base substitution C T intron_variant BLCA-CN 3 183217570 183217570 single base substitution C T missense_variant E319K 955G>A BLCA-CN 3 183217574 183217574 single base substitution C A exon_variant BLCA-CN 3 183217574 183217574 single base substitution C A intron_variant BLCA-CN 3 183217574 183217574 single base substitution C A missense_variant Q317H 951G>T BLCA-US 3 183209963 183209963 single base substitution G A exon_variant BLCA-US 3 183209963 183209963 single base substitution G A synonymous_variant L540L 1618C>T BLCA-US 3 183217456 183217456 single base substitution C G exon_variant BLCA-US 3 183217456 183217456 single base substitution C G intron_variant BLCA-US 3 183217456 183217456 single base substitution C G missense_variant E357Q 1069G>C BLCA-US 3 183217612 183217612 single base substitution T A exon_variant BLCA-US 3 183217612 183217612 single base substitution T A intron_variant BLCA-US 3 183217612 183217612 single base substitution T A missense_variant I305F 913A>T BLCA-US 3 183225916 183225916 single base substitution G A exon_variant BLCA-US 3 183225916 183225916 single base substitution G A synonymous_variant L280L 840C>T BLCA-US 3 183273151 183273151 single base substitution G T missense_variant F97L 291C>A BLCA-US 3 183273151 183273151 single base substitution G T splice_region_variant BOCA-FR 3 183254666 183254666 single base substitution G C intron_variant BOCA-UK 3 183245758 183245758 single base substitution T A exon_variant BOCA-UK 3 183245758 183245758 single base substitution T A missense_variant R112W 334A>T BRCA-EU 3 183200622 183200622 single base substitution G A downstream_gene_variant BRCA-EU 3 183200680 183200680 single base substitution C T downstream_gene_variant BRCA-EU 3 183201414 183201414 single base substitution C T downstream_gene_variant BRCA-EU 3 183203721 183203722 deletion of <=200bp CA - downstream_gene_variant BRCA-EU 3 183204593 183204593 single base substitution C G downstream_gene_variant BRCA-EU 3 183204739 183204739 single base substitution G A downstream_gene_variant BRCA-EU 3 183205209 183205225 deletion of <=200bp TGAACCAAATGAAACGT - downstream_gene_variant BRCA-EU 3 183205398 183205398 single base substitution C A 3_prime_UTR_variant BRCA-EU 3 183205398 183205398 single base substitution C A downstream_gene_variant BRCA-EU 3 183205945 183205945 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 183205945 183205945 single base substitution G A downstream_gene_variant BRCA-EU 3 183206439 183206439 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 183206439 183206439 single base substitution C T downstream_gene_variant BRCA-EU 3 183206940 183206940 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 183206940 183206940 single base substitution C T downstream_gene_variant BRCA-EU 3 183207091 183207091 single base substitution C A 3_prime_UTR_variant BRCA-EU 3 183207091 183207091 single base substitution C A downstream_gene_variant BRCA-EU 3 183207576 183207576 single base substitution A G 3_prime_UTR_variant BRCA-EU 3 183207576 183207576 single base substitution A G downstream_gene_variant BRCA-EU 3 183207905 183207905 single base substitution G T 3_prime_UTR_variant BRCA-EU 3 183207905 183207905 single base substitution G T downstream_gene_variant BRCA-EU 3 183208519 183208519 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 183208519 183208519 single base substitution G C downstream_gene_variant BRCA-EU 3 183208519 183208519 single base substitution G C intron_variant BRCA-EU 3 183209463 183209463 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 183209463 183209463 single base substitution G A exon_variant BRCA-EU 3 183209533 183209533 single base substitution C A 3_prime_UTR_variant BRCA-EU 3 183209533 183209533 single base substitution C A exon_variant BRCA-EU 3 183209802 183209802 single base substitution G A exon_variant BRCA-EU 3 183209802 183209802 single base substitution G A synonymous_variant P593P 1779C>T BRCA-EU 3 183211461 183211461 single base substitution C G exon_variant BRCA-EU 3 183211461 183211461 single base substitution C G intron_variant BRCA-EU 3 183211689 183211689 single base substitution T A exon_variant BRCA-EU 3 183211689 183211689 single base substitution T A intron_variant BRCA-EU 3 183212101 183212109 deletion of <=200bp TCAGATGTG - intron_variant BRCA-EU 3 183213737 183213737 single base substitution G C intron_variant BRCA-EU 3 183213958 183213958 deletion of <=200bp A - intron_variant BRCA-EU 3 183214782 183214782 deletion of <=200bp T - intron_variant BRCA-EU 3 183216196 183216196 single base substitution G C intron_variant BRCA-EU 3 183219015 183219015 single base substitution C A intron_variant BRCA-EU 3 183219200 183219200 single base substitution C A intron_variant BRCA-EU 3 183219489 183219489 single base substitution G A intron_variant BRCA-EU 3 183220881 183220881 single base substitution G T intron_variant BRCA-EU 3 183221295 183221295 single base substitution C T intron_variant BRCA-EU 3 183222036 183222036 single base substitution C G intron_variant BRCA-EU 3 183222392 183222392 single base substitution G A intron_variant BRCA-EU 3 183222436 183222436 single base substitution G C intron_variant BRCA-EU 3 183222447 183222447 single base substitution G A intron_variant BRCA-EU 3 183222580 183222580 single base substitution C T intron_variant BRCA-EU 3 183223180 183223180 single base substitution A G intron_variant BRCA-EU 3 183223190 183223190 single base substitution G A intron_variant BRCA-EU 3 183223299 183223299 single base substitution G A intron_variant BRCA-EU 3 183225543 183225543 single base substitution C T intron_variant BRCA-EU 3 183225789 183225789 single base substitution C A intron_variant BRCA-EU 3 183226769 183226769 single base substitution A T intron_variant BRCA-EU 3 183227775 183227775 single base substitution G A intron_variant BRCA-EU 3 183228222 183228222 single base substitution G A intron_variant BRCA-EU 3 183228449 183228449 single base substitution G A intron_variant BRCA-EU 3 183228523 183228523 single base substitution G T intron_variant BRCA-EU 3 183229299 183229299 single base substitution G A intron_variant BRCA-EU 3 183230768 183230768 single base substitution T A intron_variant BRCA-EU 3 183230891 183230891 single base substitution T A intron_variant BRCA-EU 3 183231828 183231828 single base substitution G A intron_variant BRCA-EU 3 183233211 183233211 single base substitution C T downstream_gene_variant BRCA-EU 3 183233211 183233211 single base substitution C T intron_variant BRCA-EU 3 183233333 183233333 single base substitution C G downstream_gene_variant BRCA-EU 3 183233333 183233333 single base substitution C G intron_variant BRCA-EU 3 183233337 183233337 insertion of <=200bp - A downstream_gene_variant BRCA-EU 3 183233337 183233337 insertion of <=200bp - A intron_variant BRCA-EU 3 183233571 183233571 single base substitution T A downstream_gene_variant BRCA-EU 3 183233571 183233571 single base substitution T A intron_variant BRCA-EU 3 183233636 183233636 single base substitution T A downstream_gene_variant BRCA-EU 3 183233636 183233636 single base substitution T A intron_variant BRCA-EU 3 183233950 183233950 single base substitution C T downstream_gene_variant BRCA-EU 3 183233950 183233950 single base substitution C T intron_variant BRCA-EU 3 183234116 183234116 single base substitution C G downstream_gene_variant BRCA-EU 3 183234116 183234116 single base substitution C G intron_variant BRCA-EU 3 183234311 183234311 single base substitution C G downstream_gene_variant BRCA-EU 3 183234311 183234311 single base substitution C G intron_variant BRCA-EU 3 183234844 183234844 single base substitution G A downstream_gene_variant BRCA-EU 3 183234844 183234844 single base substitution G A intron_variant BRCA-EU 3 183236956 183236956 single base substitution G T downstream_gene_variant BRCA-EU 3 183236956 183236956 single base substitution G T intron_variant BRCA-EU 3 183238871 183238871 single base substitution A T exon_variant BRCA-EU 3 183238871 183238871 single base substitution A T intron_variant BRCA-EU 3 183239305 183239305 single base substitution G A exon_variant BRCA-EU 3 183239305 183239305 single base substitution G A intron_variant BRCA-EU 3 183239661 183239661 single base substitution T C intron_variant BRCA-EU 3 183240114 183240114 deletion of <=200bp A - exon_variant BRCA-EU 3 183240114 183240114 deletion of <=200bp A - intron_variant BRCA-EU 3 183241132 183241132 single base substitution T C intron_variant BRCA-EU 3 183242276 183242276 single base substitution A G intron_variant BRCA-EU 3 183243173 183243173 single base substitution A G intron_variant BRCA-EU 3 183243590 183243590 single base substitution G A intron_variant BRCA-EU 3 183243715 183243715 single base substitution G C intron_variant BRCA-EU 3 183243942 183243942 deletion of <=200bp A - intron_variant BRCA-EU 3 183244645 183244645 single base substitution G A intron_variant BRCA-EU 3 183245718 183245718 single base substitution G A exon_variant BRCA-EU 3 183245718 183245718 single base substitution G A missense_variant T125I 374C>T BRCA-EU 3 183245782 183245782 single base substitution C T exon_variant BRCA-EU 3 183245782 183245782 single base substitution C T missense_variant D104N 310G>A BRCA-EU 3 183246403 183246403 single base substitution C T intron_variant BRCA-EU 3 183246956 183246956 single base substitution G T intron_variant BRCA-EU 3 183247109 183247109 single base substitution G C intron_variant BRCA-EU 3 183247572 183247572 single base substitution C G intron_variant BRCA-EU 3 183247638 183247638 deletion of <=200bp T - intron_variant BRCA-EU 3 183248328 183248328 single base substitution G A intron_variant BRCA-EU 3 183249499 183249499 single base substitution G T intron_variant BRCA-EU 3 183249513 183249513 single base substitution C T intron_variant BRCA-EU 3 183249797 183249797 single base substitution G T intron_variant BRCA-EU 3 183250363 183250363 single base substitution G C intron_variant BRCA-EU 3 183251560 183251560 single base substitution C A intron_variant BRCA-EU 3 183251599 183251599 single base substitution C G intron_variant BRCA-EU 3 183254442 183254442 single base substitution G A intron_variant BRCA-EU 3 183254553 183254553 single base substitution G T intron_variant BRCA-EU 3 183254936 183254936 single base substitution C G intron_variant BRCA-EU 3 183255486 183255486 single base substitution G A intron_variant BRCA-EU 3 183256042 183256042 single base substitution C T intron_variant BRCA-EU 3 183256241 183256241 single base substitution G A intron_variant BRCA-EU 3 183256472 183256472 single base substitution G A intron_variant BRCA-EU 3 183256700 183256700 single base substitution C T intron_variant BRCA-EU 3 183257696 183257696 single base substitution A T intron_variant BRCA-EU 3 183257697 183257697 single base substitution G T intron_variant BRCA-EU 3 183258480 183258491 deletion of <=200bp CCACACCCGGCC - intron_variant BRCA-EU 3 183258950 183258950 single base substitution G A intron_variant BRCA-EU 3 183259010 183259010 single base substitution C G intron_variant BRCA-EU 3 183261355 183261355 single base substitution T A intron_variant BRCA-EU 3 183261383 183261383 single base substitution A G intron_variant BRCA-EU 3 183262202 183262202 single base substitution C G intron_variant BRCA-EU 3 183263152 183263152 single base substitution C T intron_variant BRCA-EU 3 183263152 183263152 single base substitution C T upstream_gene_variant BRCA-EU 3 183263161 183263161 single base substitution T A intron_variant BRCA-EU 3 183263161 183263161 single base substitution T A upstream_gene_variant BRCA-EU 3 183263324 183263324 single base substitution G A intron_variant BRCA-EU 3 183263324 183263324 single base substitution G A upstream_gene_variant BRCA-EU 3 183263428 183263428 single base substitution C A intron_variant BRCA-EU 3 183263428 183263428 single base substitution C A upstream_gene_variant BRCA-EU 3 183263829 183263829 single base substitution A G intron_variant BRCA-EU 3 183263829 183263829 single base substitution A G upstream_gene_variant BRCA-EU 3 183263929 183263929 single base substitution A C intron_variant BRCA-EU 3 183263929 183263929 single base substitution A C upstream_gene_variant BRCA-EU 3 183265536 183265536 single base substitution A C intron_variant BRCA-EU 3 183265536 183265536 single base substitution A C upstream_gene_variant BRCA-EU 3 183265631 183265631 single base substitution T C intron_variant BRCA-EU 3 183265631 183265631 single base substitution T C upstream_gene_variant BRCA-EU 3 183266932 183266932 single base substitution C T intron_variant BRCA-EU 3 183266932 183266932 single base substitution C T upstream_gene_variant BRCA-EU 3 183267167 183267167 single base substitution G C intron_variant BRCA-EU 3 183267167 183267167 single base substitution G C upstream_gene_variant BRCA-EU 3 183267173 183267173 single base substitution A C intron_variant BRCA-EU 3 183267173 183267173 single base substitution A C upstream_gene_variant BRCA-EU 3 183267546 183267546 single base substitution G A intron_variant BRCA-EU 3 183267546 183267546 single base substitution G A upstream_gene_variant BRCA-EU 3 183267775 183267775 insertion of <=200bp - A intron_variant BRCA-EU 3 183267823 183267823 single base substitution C T intron_variant BRCA-EU 3 183268551 183268551 single base substitution C A intron_variant BRCA-EU 3 183269045 183269045 single base substitution A G intron_variant BRCA-EU 3 183269526 183269526 single base substitution G A intron_variant BRCA-EU 3 183270398 183270398 single base substitution C G intron_variant BRCA-EU 3 183271007 183271007 single base substitution C T intron_variant BRCA-EU 3 183271155 183271155 single base substitution G C intron_variant BRCA-EU 3 183273193 183273193 single base substitution G A exon_variant BRCA-EU 3 183273193 183273193 single base substitution G A synonymous_variant F83F 249C>T BRCA-EU 3 183273201 183273201 single base substitution G A exon_variant BRCA-EU 3 183273201 183273201 single base substitution G A stop_gained Q81* 241C>T BRCA-EU 3 183273785 183273785 single base substitution T C upstream_gene_variant BRCA-EU 3 183274975 183274975 single base substitution A T upstream_gene_variant BRCA-EU 3 183275185 183275185 single base substitution G A upstream_gene_variant BRCA-EU 3 183275649 183275649 single base substitution A T upstream_gene_variant BRCA-EU 3 183277937 183277937 single base substitution A G upstream_gene_variant BRCA-FR 3 183223190 183223190 single base substitution G A intron_variant BRCA-FR 3 183227775 183227775 single base substitution G A intron_variant BRCA-FR 3 183239305 183239305 single base substitution G A exon_variant BRCA-FR 3 183239305 183239305 single base substitution G A intron_variant BRCA-FR 3 183243590 183243590 single base substitution G A intron_variant BRCA-FR 3 183245399 183245399 single base substitution G T intron_variant BRCA-FR 3 183262515 183262515 single base substitution C T exon_variant BRCA-FR 3 183262515 183262515 single base substitution C T intron_variant BRCA-FR 3 183263324 183263324 single base substitution G A intron_variant BRCA-FR 3 183263324 183263324 single base substitution G A upstream_gene_variant BRCA-FR 3 183269526 183269526 single base substitution G A intron_variant BRCA-FR 3 183274029 183274029 single base substitution G A upstream_gene_variant BRCA-KR 3 183226065 183226065 single base substitution C T exon_variant BRCA-KR 3 183226065 183226065 single base substitution C T missense_variant E231K 691G>A BRCA-UK 3 183205945 183205945 single base substitution G A 3_prime_UTR_variant BRCA-UK 3 183205945 183205945 single base substitution G A downstream_gene_variant BRCA-UK 3 183206321 183206321 single base substitution T C 3_prime_UTR_variant BRCA-UK 3 183206321 183206321 single base substitution T C downstream_gene_variant BRCA-UK 3 183233211 183233211 single base substitution C T downstream_gene_variant BRCA-UK 3 183233211 183233211 single base substitution C T intron_variant BRCA-US 3 183209733 183209733 single base substitution G A exon_variant BRCA-US 3 183209733 183209733 single base substitution G A synonymous_variant P616P 1848C>T BRCA-US 3 183209883 183209883 single base substitution C A exon_variant BRCA-US 3 183209883 183209883 single base substitution C A synonymous_variant R566R 1698G>T BRCA-US 3 183217542 183217542 single base substitution G A exon_variant BRCA-US 3 183217542 183217542 single base substitution G A intron_variant BRCA-US 3 183217542 183217542 single base substitution G A missense_variant T328M 983C>T BRCA-US 3 183217570 183217570 single base substitution C T exon_variant BRCA-US 3 183217570 183217570 single base substitution C T intron_variant BRCA-US 3 183217570 183217570 single base substitution C T missense_variant E319K 955G>A BRCA-US 3 183225934 183225934 single base substitution C T exon_variant BRCA-US 3 183225934 183225934 single base substitution C T synonymous_variant T274T 822G>A BRCA-US 3 183225935 183225935 single base substitution G A exon_variant BRCA-US 3 183225935 183225935 single base substitution G A missense_variant T274M 821C>T BRCA-US 3 183226052 183226052 single base substitution A C exon_variant BRCA-US 3 183226052 183226052 single base substitution A C missense_variant V235G 704T>G BTCA-JP 3 183245730 183245730 single base substitution T G exon_variant BTCA-JP 3 183245730 183245730 single base substitution T G missense_variant E121A 362A>C BTCA-JP 3 183273278 183273278 single base substitution G C exon_variant BTCA-JP 3 183273278 183273278 single base substitution G C missense_variant S55C 164C>G CESC-US 3 183209823 183209823 single base substitution C T exon_variant CESC-US 3 183209823 183209823 single base substitution C T synonymous_variant L586L 1758G>A CESC-US 3 183273245 183273245 single base substitution C T exon_variant CESC-US 3 183273245 183273245 single base substitution C T missense_variant R66Q 197G>A CESC-US 3 183273417 183273417 single base substitution C T exon_variant CESC-US 3 183273417 183273417 single base substitution C T missense_variant A9T 25G>A CESC-US 3 183273417 183273417 single base substitution C T upstream_gene_variant CLLE-ES 3 183201971 183201971 single base substitution C A downstream_gene_variant CLLE-ES 3 183220266 183220266 single base substitution A C intron_variant CLLE-ES 3 183250216 183250216 single base substitution C G intron_variant CLLE-ES 3 183273144 183273144 single base substitution C G intron_variant CLLE-ES 3 183273174 183273174 single base substitution G A exon_variant CLLE-ES 3 183273174 183273174 single base substitution G A missense_variant L90F 268C>T CLLE-ES 3 183273174 183273174 single base substitution G C exon_variant CLLE-ES 3 183273174 183273174 single base substitution G C missense_variant L90V 268C>G CLLE-ES 3 183273248 183273248 single base substitution A G exon_variant CLLE-ES 3 183273248 183273248 single base substitution A G missense_variant L65P 194T>C CLLE-ES 3 183273297 183273297 single base substitution A G exon_variant CLLE-ES 3 183273297 183273297 single base substitution A G missense_variant F49L 145T>C COAD-US 3 183209777 183209777 single base substitution C T exon_variant COAD-US 3 183209777 183209777 single base substitution C T missense_variant V602I 1804G>A COAD-US 3 183209811 183209811 single base substitution G A exon_variant COAD-US 3 183209811 183209811 single base substitution G A synonymous_variant C590C 1770C>T COAD-US 3 183210426 183210426 single base substitution C T exon_variant COAD-US 3 183210426 183210426 single base substitution C T missense_variant G474R 1420G>A COAD-US 3 183211906 183211906 single base substitution A G exon_variant COAD-US 3 183211906 183211906 single base substitution A G synonymous_variant N437N 1311T>C COAD-US 3 183212015 183212015 single base substitution C A exon_variant COAD-US 3 183212015 183212015 single base substitution C A missense_variant W401L 1202G>T COAD-US 3 183212026 183212026 single base substitution C T exon_variant COAD-US 3 183212026 183212026 single base substitution C T synonymous_variant S397S 1191G>A COAD-US 3 183217382 183217382 single base substitution G T exon_variant COAD-US 3 183217382 183217382 single base substitution G T intron_variant COAD-US 3 183217382 183217382 single base substitution G T synonymous_variant I381I 1143C>A COAD-US 3 183217531 183217531 single base substitution G A exon_variant COAD-US 3 183217531 183217531 single base substitution G A intron_variant COAD-US 3 183217531 183217531 single base substitution G A missense_variant R332W 994C>T COAD-US 3 183245672 183245672 single base substitution C G exon_variant COAD-US 3 183245672 183245672 single base substitution C G missense_variant Q140H 420G>C COAD-US 3 183273292 183273292 single base substitution G A exon_variant COAD-US 3 183273292 183273292 single base substitution G A synonymous_variant D50D 150C>T COAD-US 3 183273326 183273326 single base substitution A G exon_variant COAD-US 3 183273326 183273326 single base substitution A G missense_variant V39A 116T>C COCA-CN 3 183209830 183209830 single base substitution T C exon_variant COCA-CN 3 183209830 183209830 single base substitution T C missense_variant Q584R 1751A>G COCA-CN 3 183210226 183210226 single base substitution A T exon_variant COCA-CN 3 183210226 183210226 single base substitution A T intron_variant COCA-CN 3 183211985 183211985 single base substitution C T exon_variant COCA-CN 3 183211985 183211985 single base substitution C T missense_variant R411H 1232G>A COCA-CN 3 183212094 183212094 single base substitution G T intron_variant COCA-CN 3 183217409 183217409 single base substitution G A exon_variant COCA-CN 3 183217409 183217409 single base substitution G A intron_variant COCA-CN 3 183217409 183217409 single base substitution G A synonymous_variant C372C 1116C>T COCA-CN 3 183217414 183217414 single base substitution C T exon_variant COCA-CN 3 183217414 183217414 single base substitution C T intron_variant COCA-CN 3 183217414 183217414 single base substitution C T missense_variant A371T 1111G>A COCA-CN 3 183217492 183217492 single base substitution G A exon_variant COCA-CN 3 183217492 183217492 single base substitution G A intron_variant COCA-CN 3 183217492 183217492 single base substitution G A missense_variant R345C 1033C>T COCA-CN 3 183225970 183225970 single base substitution G A exon_variant COCA-CN 3 183225970 183225970 single base substitution G A synonymous_variant R262R 786C>T COCA-CN 3 183226378 183226378 single base substitution C A intron_variant COCA-CN 3 183245954 183245954 single base substitution C A intron_variant COCA-CN 3 183273183 183273183 single base substitution G A exon_variant COCA-CN 3 183273183 183273183 single base substitution G A missense_variant R87C 259C>T EOPC-DE 3 183230780 183230780 single base substitution A T intron_variant EOPC-DE 3 183239626 183239626 single base substitution C T intron_variant EOPC-DE 3 183241774 183241774 single base substitution C A intron_variant EOPC-DE 3 183259176 183259176 single base substitution C T intron_variant EOPC-DE 3 183260779 183260779 single base substitution A G intron_variant ESAD-UK 3 183202093 183202093 single base substitution A C downstream_gene_variant ESAD-UK 3 183202725 183202725 single base substitution T C downstream_gene_variant ESAD-UK 3 183207451 183207451 single base substitution T C 3_prime_UTR_variant ESAD-UK 3 183207451 183207451 single base substitution T C downstream_gene_variant ESAD-UK 3 183207712 183207712 single base substitution G C 3_prime_UTR_variant ESAD-UK 3 183207712 183207712 single base substitution G C downstream_gene_variant ESAD-UK 3 183212003 183212003 single base substitution T G exon_variant ESAD-UK 3 183212003 183212003 single base substitution T G missense_variant E405A 1214A>C ESAD-UK 3 183212610 183212610 single base substitution T C intron_variant ESAD-UK 3 183216291 183216291 single base substitution G A intron_variant ESAD-UK 3 183217670 183217670 single base substitution G A intron_variant ESAD-UK 3 183218981 183218981 single base substitution G A intron_variant ESAD-UK 3 183219547 183219547 single base substitution T G intron_variant ESAD-UK 3 183220273 183220273 single base substitution C T intron_variant ESAD-UK 3 183221602 183221602 single base substitution A T intron_variant ESAD-UK 3 183223012 183223012 single base substitution T C intron_variant ESAD-UK 3 183224397 183224397 single base substitution C G intron_variant ESAD-UK 3 183224993 183224993 single base substitution C G intron_variant ESAD-UK 3 183225197 183225197 insertion of <=200bp - T intron_variant ESAD-UK 3 183225597 183225597 single base substitution G A intron_variant ESAD-UK 3 183225999 183225999 single base substitution A C exon_variant ESAD-UK 3 183225999 183225999 single base substitution A C missense_variant L253V 757T>G ESAD-UK 3 183229173 183229173 single base substitution T G intron_variant ESAD-UK 3 183230285 183230285 single base substitution T C intron_variant ESAD-UK 3 183230912 183230912 single base substitution G A intron_variant ESAD-UK 3 183231993 183231993 single base substitution G A intron_variant ESAD-UK 3 183233426 183233426 single base substitution C T downstream_gene_variant ESAD-UK 3 183233426 183233426 single base substitution C T intron_variant ESAD-UK 3 183236032 183236032 single base substitution T A downstream_gene_variant ESAD-UK 3 183236032 183236032 single base substitution T A intron_variant ESAD-UK 3 183236174 183236174 single base substitution T G downstream_gene_variant ESAD-UK 3 183236174 183236174 single base substitution T G intron_variant ESAD-UK 3 183236339 183236339 single base substitution A C downstream_gene_variant ESAD-UK 3 183236339 183236339 single base substitution A C intron_variant ESAD-UK 3 183236626 183236626 single base substitution T C downstream_gene_variant ESAD-UK 3 183236626 183236626 single base substitution T C intron_variant ESAD-UK 3 183238625 183238625 single base substitution C T exon_variant ESAD-UK 3 183238625 183238625 single base substitution C T intron_variant ESAD-UK 3 183240123 183240123 single base substitution G C exon_variant ESAD-UK 3 183240123 183240123 single base substitution G C intron_variant ESAD-UK 3 183240542 183240542 single base substitution G A exon_variant ESAD-UK 3 183240542 183240542 single base substitution G A intron_variant ESAD-UK 3 183241465 183241465 deletion of <=200bp T - intron_variant ESAD-UK 3 183241504 183241504 single base substitution A C intron_variant ESAD-UK 3 183242353 183242353 single base substitution C A intron_variant ESAD-UK 3 183242367 183242367 single base substitution G A intron_variant ESAD-UK 3 183244447 183244447 single base substitution C T intron_variant ESAD-UK 3 183244825 183244825 single base substitution T C intron_variant ESAD-UK 3 183246315 183246315 single base substitution T C intron_variant ESAD-UK 3 183249155 183249155 single base substitution G A intron_variant ESAD-UK 3 183250260 183250260 single base substitution T C intron_variant ESAD-UK 3 183251873 183251873 single base substitution C A intron_variant ESAD-UK 3 183251874 183251874 single base substitution T A intron_variant ESAD-UK 3 183251875 183251875 single base substitution T G intron_variant ESAD-UK 3 183253036 183253036 single base substitution C T intron_variant ESAD-UK 3 183253928 183253928 single base substitution G A intron_variant ESAD-UK 3 183253970 183253970 single base substitution C T intron_variant ESAD-UK 3 183254172 183254172 single base substitution C T intron_variant ESAD-UK 3 183257761 183257761 single base substitution G A intron_variant ESAD-UK 3 183258661 183258661 single base substitution C T intron_variant ESAD-UK 3 183259036 183259036 single base substitution T G intron_variant ESAD-UK 3 183260936 183260936 single base substitution C A intron_variant ESAD-UK 3 183261236 183261236 single base substitution A G intron_variant ESAD-UK 3 183261478 183261478 single base substitution A G intron_variant ESAD-UK 3 183262587 183262588 deletion of <=200bp CG - intron_variant ESAD-UK 3 183262587 183262588 deletion of <=200bp CG - upstream_gene_variant ESAD-UK 3 183262610 183262610 single base substitution G A intron_variant ESAD-UK 3 183262610 183262610 single base substitution G A upstream_gene_variant ESAD-UK 3 183263634 183263634 single base substitution T A intron_variant ESAD-UK 3 183263634 183263634 single base substitution T A upstream_gene_variant ESAD-UK 3 183263684 183263684 single base substitution T C intron_variant ESAD-UK 3 183263684 183263684 single base substitution T C upstream_gene_variant ESAD-UK 3 183264314 183264314 single base substitution C T intron_variant ESAD-UK 3 183264314 183264314 single base substitution C T upstream_gene_variant ESAD-UK 3 183267340 183267340 single base substitution C T intron_variant ESAD-UK 3 183267340 183267340 single base substitution C T upstream_gene_variant ESAD-UK 3 183270710 183270710 single base substitution G T intron_variant ESAD-UK 3 183271411 183271411 single base substitution G A intron_variant ESAD-UK 3 183272256 183272256 single base substitution A G intron_variant ESAD-UK 3 183272520 183272520 single base substitution G A intron_variant ESAD-UK 3 183272786 183272786 single base substitution C T intron_variant ESAD-UK 3 183273231 183273231 single base substitution G C exon_variant ESAD-UK 3 183273231 183273231 single base substitution G C missense_variant L71V 211C>G ESAD-UK 3 183275365 183275365 single base substitution A G upstream_gene_variant ESAD-UK 3 183275822 183275822 single base substitution C T upstream_gene_variant ESAD-UK 3 183277694 183277694 single base substitution G A upstream_gene_variant ESCA-CN 3 183226065 183226065 single base substitution C T exon_variant ESCA-CN 3 183226065 183226065 single base substitution C T missense_variant E231K 691G>A GBM-US 3 183226008 183226008 single base substitution G A exon_variant GBM-US 3 183226008 183226008 single base substitution G A stop_gained R250* 748C>T KIRC-US 3 183211912 183211912 single base substitution G T exon_variant KIRC-US 3 183211912 183211912 single base substitution G T synonymous_variant I435I 1305C>A KIRC-US 3 183217550 183217550 single base substitution G T exon_variant KIRC-US 3 183217550 183217550 single base substitution G T intron_variant KIRC-US 3 183217550 183217550 single base substitution G T synonymous_variant G325G 975C>A KIRP-US 3 183217515 183217515 single base substitution A C exon_variant KIRP-US 3 183217515 183217515 single base substitution A C intron_variant KIRP-US 3 183217515 183217515 single base substitution A C missense_variant V337G 1010T>G KIRP-US 3 183226047 183226047 single base substitution C T exon_variant KIRP-US 3 183226047 183226047 single base substitution C T missense_variant E237K 709G>A LICA-CN 3 183273284 183273284 single base substitution C A exon_variant LICA-CN 3 183273284 183273284 single base substitution C A missense_variant G53V 158G>T LICA-FR 3 183203844 183203844 single base substitution C A downstream_gene_variant LICA-FR 3 183213518 183213518 single base substitution G A intron_variant LICA-FR 3 183215075 183215075 single base substitution C T intron_variant LICA-FR 3 183217436 183217436 single base substitution C A exon_variant LICA-FR 3 183217436 183217436 single base substitution C A intron_variant LICA-FR 3 183217436 183217436 single base substitution C A missense_variant E363D 1089G>T LICA-FR 3 183217510 183217510 single base substitution A T exon_variant LICA-FR 3 183217510 183217510 single base substitution A T intron_variant LICA-FR 3 183217510 183217510 single base substitution A T missense_variant C339S 1015T>A LICA-FR 3 183245203 183245203 single base substitution C T intron_variant LICA-FR 3 183262643 183262643 deletion of <=200bp C - intron_variant LICA-FR 3 183262643 183262643 deletion of <=200bp C - upstream_gene_variant LICA-FR 3 183268105 183268105 single base substitution A C intron_variant LICA-FR 3 183270531 183270531 single base substitution G A intron_variant LICA-FR 3 183273374 183273374 single base substitution G T exon_variant LICA-FR 3 183273374 183273374 single base substitution G T missense_variant P23H 68C>A LIHC-US 3 183209982 183209982 single base substitution C G exon_variant LIHC-US 3 183209982 183209982 single base substitution C G synonymous_variant P533P 1599G>C LIHC-US 3 183210427 183210427 single base substitution G T exon_variant LIHC-US 3 183210427 183210427 single base substitution G T synonymous_variant I473I 1419C>A LIHC-US 3 183217548 183217548 single base substitution C A exon_variant LIHC-US 3 183217548 183217548 single base substitution C A intron_variant LIHC-US 3 183217548 183217548 single base substitution C A missense_variant G326V 977G>T LINC-JP 3 183201673 183201673 single base substitution C T downstream_gene_variant LINC-JP 3 183208525 183208525 single base substitution A C 3_prime_UTR_variant LINC-JP 3 183208525 183208525 single base substitution A C downstream_gene_variant LINC-JP 3 183208525 183208525 single base substitution A C intron_variant LINC-JP 3 183212608 183212608 single base substitution A T intron_variant LINC-JP 3 183218123 183218123 single base substitution C A intron_variant LINC-JP 3 183218449 183218449 single base substitution A G intron_variant LINC-JP 3 183226293 183226293 single base substitution G A exon_variant LINC-JP 3 183226293 183226293 single base substitution G A synonymous_variant L155L 463C>T LINC-JP 3 183230284 183230284 deletion of <=200bp A - intron_variant LINC-JP 3 183239627 183239627 single base substitution G C intron_variant LINC-JP 3 183263356 183263356 single base substitution T C intron_variant LINC-JP 3 183263356 183263356 single base substitution T C upstream_gene_variant LINC-JP 3 183266516 183266516 single base substitution A G intron_variant LINC-JP 3 183266516 183266516 single base substitution A G upstream_gene_variant LIRI-JP 3 183200421 183200422 deletion of <=200bp GT - downstream_gene_variant LIRI-JP 3 183200558 183200558 single base substitution A G downstream_gene_variant LIRI-JP 3 183204371 183204371 single base substitution A G downstream_gene_variant LIRI-JP 3 183206956 183206956 single base substitution C T 3_prime_UTR_variant LIRI-JP 3 183206956 183206956 single base substitution C T downstream_gene_variant LIRI-JP 3 183209890 183209890 single base substitution C T exon_variant LIRI-JP 3 183209890 183209890 single base substitution C T missense_variant G564D 1691G>A LIRI-JP 3 183210117 183210117 single base substitution C T exon_variant LIRI-JP 3 183210117 183210117 single base substitution C T intron_variant LIRI-JP 3 183215498 183215498 single base substitution G A intron_variant LIRI-JP 3 183216877 183216877 single base substitution C T intron_variant LIRI-JP 3 183217278 183217278 single base substitution C T intron_variant LIRI-JP 3 183219302 183219302 single base substitution C T intron_variant LIRI-JP 3 183219504 183219504 single base substitution T A intron_variant LIRI-JP 3 183223342 183223342 single base substitution T C intron_variant LIRI-JP 3 183224413 183224413 single base substitution C G intron_variant LIRI-JP 3 183225461 183225461 single base substitution T A intron_variant LIRI-JP 3 183225665 183225665 single base substitution G C intron_variant LIRI-JP 3 183225855 183225855 single base substitution C G exon_variant LIRI-JP 3 183225855 183225855 single base substitution C G missense_variant G301R 901G>C LIRI-JP 3 183226189 183226189 single base substitution T A exon_variant LIRI-JP 3 183226189 183226189 single base substitution T A synonymous_variant L189L 567A>T LIRI-JP 3 183226916 183226916 single base substitution C T intron_variant LIRI-JP 3 183228281 183228281 single base substitution C T intron_variant LIRI-JP 3 183228635 183228635 single base substitution C T intron_variant LIRI-JP 3 183230788 183230788 single base substitution T C intron_variant LIRI-JP 3 183231338 183231338 insertion of <=200bp - T intron_variant LIRI-JP 3 183234374 183234374 single base substitution A T downstream_gene_variant LIRI-JP 3 183234374 183234374 single base substitution A T intron_variant LIRI-JP 3 183236000 183236000 single base substitution C T downstream_gene_variant LIRI-JP 3 183236000 183236000 single base substitution C T intron_variant LIRI-JP 3 183239892 183239892 single base substitution T A intron_variant LIRI-JP 3 183240029 183240029 single base substitution G A intron_variant LIRI-JP 3 183240897 183240897 single base substitution G A exon_variant LIRI-JP 3 183240897 183240897 single base substitution G A intron_variant LIRI-JP 3 183240898 183240898 single base substitution C A exon_variant LIRI-JP 3 183240898 183240898 single base substitution C A intron_variant LIRI-JP 3 183241101 183241101 single base substitution G A intron_variant LIRI-JP 3 183241710 183241710 single base substitution G A intron_variant LIRI-JP 3 183242153 183242153 single base substitution T G intron_variant LIRI-JP 3 183242257 183242257 single base substitution A T intron_variant LIRI-JP 3 183242484 183242484 single base substitution A G intron_variant LIRI-JP 3 183244225 183244225 single base substitution A G intron_variant LIRI-JP 3 183246379 183246379 single base substitution C T intron_variant LIRI-JP 3 183247874 183247874 single base substitution T C intron_variant LIRI-JP 3 183250221 183250221 single base substitution G A intron_variant LIRI-JP 3 183254753 183254753 single base substitution T C intron_variant LIRI-JP 3 183256915 183256915 single base substitution A T intron_variant LIRI-JP 3 183257732 183257732 single base substitution A T intron_variant LIRI-JP 3 183259925 183259925 single base substitution T C intron_variant LIRI-JP 3 183261206 183261206 single base substitution T C intron_variant LIRI-JP 3 183269257 183269257 single base substitution A G intron_variant LIRI-JP 3 183269898 183269898 single base substitution G A intron_variant LIRI-JP 3 183269915 183269915 single base substitution C T intron_variant LIRI-JP 3 183270108 183270108 single base substitution T A intron_variant LIRI-JP 3 183271060 183271060 single base substitution A G intron_variant LIRI-JP 3 183272223 183272223 single base substitution A G intron_variant LIRI-JP 3 183272450 183272450 single base substitution A G intron_variant LIRI-JP 3 183273287 183273287 single base substitution G A exon_variant LIRI-JP 3 183273287 183273287 single base substitution G A missense_variant A52V 155C>T LIRI-JP 3 183274401 183274401 single base substitution C T upstream_gene_variant LIRI-JP 3 183274874 183274874 single base substitution G A upstream_gene_variant LIRI-JP 3 183274910 183274910 single base substitution T C upstream_gene_variant LIRI-JP 3 183275102 183275102 single base substitution A T upstream_gene_variant LIRI-JP 3 183276066 183276066 single base substitution G C upstream_gene_variant LUSC-KR 3 183201673 183201673 single base substitution C T downstream_gene_variant LUSC-KR 3 183209500 183209500 single base substitution G A 3_prime_UTR_variant LUSC-KR 3 183209500 183209500 single base substitution G A exon_variant LUSC-KR 3 183215511 183215511 single base substitution T A intron_variant LUSC-KR 3 183218758 183218758 single base substitution C G intron_variant LUSC-KR 3 183219800 183219800 single base substitution G C intron_variant LUSC-KR 3 183220202 183220202 single base substitution C G intron_variant LUSC-KR 3 183221667 183221667 single base substitution A T intron_variant LUSC-KR 3 183221700 183221700 single base substitution C T intron_variant LUSC-KR 3 183223999 183223999 single base substitution C G intron_variant LUSC-KR 3 183224191 183224191 single base substitution T C intron_variant LUSC-KR 3 183225286 183225286 single base substitution C T intron_variant LUSC-KR 3 183225810 183225810 single base substitution C T intron_variant LUSC-KR 3 183226072 183226072 single base substitution G A exon_variant LUSC-KR 3 183226072 183226072 single base substitution G A synonymous_variant Y228Y 684C>T LUSC-KR 3 183226186 183226186 single base substitution C T exon_variant LUSC-KR 3 183226186 183226186 single base substitution C T synonymous_variant K190K 570G>A LUSC-KR 3 183226213 183226213 single base substitution A G exon_variant LUSC-KR 3 183226213 183226213 single base substitution A G synonymous_variant A181A 543T>C LUSC-KR 3 183230619 183230619 single base substitution T A intron_variant LUSC-KR 3 183231705 183231705 single base substitution G T intron_variant LUSC-KR 3 183232205 183232205 single base substitution C T intron_variant LUSC-KR 3 183232776 183232776 single base substitution C T intron_variant LUSC-KR 3 183233266 183233266 single base substitution T C downstream_gene_variant LUSC-KR 3 183233266 183233266 single base substitution T C intron_variant LUSC-KR 3 183236140 183236140 single base substitution G T downstream_gene_variant LUSC-KR 3 183236140 183236140 single base substitution G T intron_variant LUSC-KR 3 183236532 183236532 single base substitution C G downstream_gene_variant LUSC-KR 3 183236532 183236532 single base substitution C G intron_variant LUSC-KR 3 183237466 183237466 single base substitution G A downstream_gene_variant LUSC-KR 3 183237466 183237466 single base substitution G A intron_variant LUSC-KR 3 183243956 183243956 single base substitution G A intron_variant LUSC-KR 3 183244182 183244182 single base substitution G A intron_variant LUSC-KR 3 183244222 183244222 single base substitution C T intron_variant LUSC-KR 3 183244997 183244997 single base substitution C G intron_variant LUSC-KR 3 183245275 183245275 single base substitution C A intron_variant LUSC-KR 3 183253807 183253807 single base substitution C T intron_variant LUSC-KR 3 183261321 183261321 single base substitution C A intron_variant LUSC-KR 3 183261322 183261322 single base substitution C A intron_variant LUSC-KR 3 183261492 183261492 single base substitution T C intron_variant LUSC-KR 3 183270825 183270825 single base substitution G C intron_variant LUSC-KR 3 183271760 183271760 single base substitution C A intron_variant LUSC-KR 3 183273599 183273599 single base substitution T C upstream_gene_variant LUSC-KR 3 183277016 183277016 single base substitution T A upstream_gene_variant LUSC-KR 3 183277624 183277624 single base substitution C T upstream_gene_variant LUSC-US 3 183209889 183209889 single base substitution G A exon_variant LUSC-US 3 183209889 183209889 single base substitution G A synonymous_variant G564G 1692C>T LUSC-US 3 183211925 183211925 single base substitution C T exon_variant LUSC-US 3 183211925 183211925 single base substitution C T missense_variant G431D 1292G>A LUSC-US 3 183226065 183226065 single base substitution C T exon_variant LUSC-US 3 183226065 183226065 single base substitution C T missense_variant E231K 691G>A MALY-DE 3 183202387 183202390 deletion of <=200bp AGTG - downstream_gene_variant MALY-DE 3 183205282 183205282 single base substitution C G downstream_gene_variant MALY-DE 3 183206480 183206480 single base substitution T A 3_prime_UTR_variant MALY-DE 3 183206480 183206480 single base substitution T A downstream_gene_variant MALY-DE 3 183209058 183209058 single base substitution C T 3_prime_UTR_variant MALY-DE 3 183209058 183209058 single base substitution C T exon_variant MALY-DE 3 183209058 183209058 single base substitution C T intron_variant MALY-DE 3 183209726 183209742 deletion of <=200bp CTGCTCCGGGCACGATC - exon_variant MALY-DE 3 183209726 183209742 deletion of <=200bp CTGCTCCGGGCACGATC - frameshift_variant RIVPGAV613 MALY-DE 3 183212038 183212038 single base substitution T C exon_variant MALY-DE 3 183212038 183212038 single base substitution T C synonymous_variant K393K 1179A>G MALY-DE 3 183215959 183215959 single base substitution T G intron_variant MALY-DE 3 183217485 183217485 single base substitution C T exon_variant MALY-DE 3 183217485 183217485 single base substitution C T intron_variant MALY-DE 3 183217485 183217485 single base substitution C T missense_variant R347H 1040G>A MALY-DE 3 183220929 183220929 single base substitution A G intron_variant MALY-DE 3 183227719 183227719 single base substitution C T intron_variant MALY-DE 3 183228663 183228663 insertion of <=200bp - AAATAAATAAATAAAT intron_variant MALY-DE 3 183229566 183229566 single base substitution C T intron_variant MALY-DE 3 183231381 183231381 single base substitution T A intron_variant MALY-DE 3 183231933 183231933 single base substitution G A intron_variant MALY-DE 3 183232400 183232400 single base substitution T C intron_variant MALY-DE 3 183232603 183232603 single base substitution C T intron_variant MALY-DE 3 183236418 183236418 single base substitution G A downstream_gene_variant MALY-DE 3 183236418 183236418 single base substitution G A intron_variant MALY-DE 3 183236568 183236568 single base substitution C G downstream_gene_variant MALY-DE 3 183236568 183236568 single base substitution C G intron_variant MALY-DE 3 183237724 183237724 single base substitution A G downstream_gene_variant MALY-DE 3 183237724 183237724 single base substitution A G intron_variant MALY-DE 3 183238115 183238115 single base substitution A G exon_variant MALY-DE 3 183238115 183238115 single base substitution A G intron_variant MALY-DE 3 183238181 183238181 single base substitution T A exon_variant MALY-DE 3 183238181 183238181 single base substitution T A intron_variant MALY-DE 3 183238310 183238310 single base substitution T A exon_variant MALY-DE 3 183238310 183238310 single base substitution T A intron_variant MALY-DE 3 183238311 183238311 single base substitution A T exon_variant MALY-DE 3 183238311 183238311 single base substitution A T intron_variant MALY-DE 3 183239274 183239274 single base substitution G A exon_variant MALY-DE 3 183239274 183239274 single base substitution G A intron_variant MALY-DE 3 183240492 183240492 single base substitution T C exon_variant MALY-DE 3 183240492 183240492 single base substitution T C intron_variant MALY-DE 3 183240535 183240535 single base substitution T C exon_variant MALY-DE 3 183240535 183240535 single base substitution T C intron_variant MALY-DE 3 183243115 183243115 insertion of <=200bp - G intron_variant MALY-DE 3 183245386 183245386 single base substitution A C intron_variant MALY-DE 3 183249130 183249130 single base substitution T C intron_variant MALY-DE 3 183255442 183255442 single base substitution C A intron_variant MALY-DE 3 183270949 183270949 single base substitution A G intron_variant MALY-DE 3 183271357 183271357 single base substitution A T intron_variant MALY-DE 3 183271381 183271381 single base substitution G C intron_variant MALY-DE 3 183271437 183271437 single base substitution C G intron_variant MALY-DE 3 183271473 183271473 single base substitution G C intron_variant MALY-DE 3 183271593 183271593 single base substitution C G intron_variant MALY-DE 3 183271718 183271718 single base substitution T G intron_variant MALY-DE 3 183271988 183271988 single base substitution G A intron_variant MALY-DE 3 183272068 183272068 single base substitution C T intron_variant MALY-DE 3 183272132 183272132 single base substitution G A intron_variant MALY-DE 3 183272190 183272190 single base substitution G A intron_variant MALY-DE 3 183272224 183272224 single base substitution A T intron_variant MALY-DE 3 183272234 183272234 single base substitution C G intron_variant MALY-DE 3 183272348 183272348 single base substitution T C intron_variant MALY-DE 3 183272354 183272354 single base substitution G C intron_variant MALY-DE 3 183272465 183272465 single base substitution A G intron_variant MALY-DE 3 183272476 183272476 single base substitution T C intron_variant MALY-DE 3 183272491 183272491 single base substitution T C intron_variant MALY-DE 3 183272590 183272590 single base substitution C G intron_variant MALY-DE 3 183272603 183272603 single base substitution G A intron_variant MALY-DE 3 183272604 183272604 single base substitution C G intron_variant MALY-DE 3 183272650 183272650 single base substitution C T intron_variant MALY-DE 3 183272668 183272668 single base substitution A C intron_variant MALY-DE 3 183272830 183272830 single base substitution C T intron_variant MALY-DE 3 183272839 183272839 single base substitution G A intron_variant MALY-DE 3 183272839 183272839 single base substitution G C intron_variant MALY-DE 3 183272966 183272966 single base substitution A G intron_variant MALY-DE 3 183272969 183272969 single base substitution A C intron_variant MALY-DE 3 183272976 183272976 single base substitution A T intron_variant MALY-DE 3 183272991 183272991 single base substitution G A intron_variant MALY-DE 3 183273087 183273087 single base substitution C T intron_variant MALY-DE 3 183273089 183273089 single base substitution C G intron_variant MALY-DE 3 183273091 183273091 single base substitution A G intron_variant MALY-DE 3 183273107 183273107 single base substitution G A intron_variant MALY-DE 3 183273115 183273115 single base substitution C T intron_variant MALY-DE 3 183273155 183273155 single base substitution T G exon_variant MALY-DE 3 183273155 183273155 single base substitution T G missense_variant Y96S 287A>C MALY-DE 3 183273161 183273161 single base substitution C T exon_variant MALY-DE 3 183273161 183273161 single base substitution C T missense_variant S94N 281G>A MALY-DE 3 183273248 183273248 single base substitution A G exon_variant MALY-DE 3 183273248 183273248 single base substitution A G missense_variant L65P 194T>C MALY-DE 3 183273275 183273275 single base substitution A T exon_variant MALY-DE 3 183273275 183273275 single base substitution A T stop_gained L56* 167T>A MALY-DE 3 183273297 183273297 single base substitution A C exon_variant MALY-DE 3 183273297 183273297 single base substitution A C missense_variant F49V 145T>G MALY-DE 3 183273302 183273302 single base substitution A C exon_variant MALY-DE 3 183273302 183273302 single base substitution A C missense_variant V47G 140T>G MELA-AU 3 183200382 183200382 single base substitution G A downstream_gene_variant MELA-AU 3 183200383 183200383 insertion of <=200bp - A downstream_gene_variant MELA-AU 3 183200820 183200820 single base substitution C T downstream_gene_variant MELA-AU 3 183200855 183200856 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 183201759 183201759 single base substitution C T downstream_gene_variant MELA-AU 3 183201845 183201845 single base substitution C T downstream_gene_variant MELA-AU 3 183201980 183201980 single base substitution G A downstream_gene_variant MELA-AU 3 183202347 183202347 single base substitution G A downstream_gene_variant MELA-AU 3 183202381 183202381 single base substitution C T downstream_gene_variant MELA-AU 3 183202452 183202452 single base substitution C T downstream_gene_variant MELA-AU 3 183202507 183202507 single base substitution G A downstream_gene_variant MELA-AU 3 183203382 183203382 single base substitution G A downstream_gene_variant MELA-AU 3 183203427 183203427 single base substitution C T downstream_gene_variant MELA-AU 3 183203535 183203536 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 183203548 183203548 single base substitution C T downstream_gene_variant MELA-AU 3 183203844 183203844 single base substitution C T downstream_gene_variant MELA-AU 3 183204016 183204016 single base substitution C T downstream_gene_variant MELA-AU 3 183204148 183204148 single base substitution C T downstream_gene_variant MELA-AU 3 183204503 183204503 single base substitution G T downstream_gene_variant MELA-AU 3 183204612 183204612 single base substitution C T downstream_gene_variant MELA-AU 3 183204725 183204725 single base substitution G A downstream_gene_variant MELA-AU 3 183204739 183204739 single base substitution G A downstream_gene_variant MELA-AU 3 183205050 183205050 single base substitution G A downstream_gene_variant MELA-AU 3 183205133 183205133 single base substitution G A downstream_gene_variant MELA-AU 3 183205176 183205176 single base substitution G A downstream_gene_variant MELA-AU 3 183205607 183205608 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 3 183205607 183205608 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 183205620 183205620 single base substitution G A 3_prime_UTR_variant MELA-AU 3 183205620 183205620 single base substitution G A downstream_gene_variant MELA-AU 3 183205649 183205650 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 3 183205649 183205650 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 183205665 183205665 single base substitution A C 3_prime_UTR_variant MELA-AU 3 183205665 183205665 single base substitution A C downstream_gene_variant MELA-AU 3 183206049 183206050 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 3 183206049 183206050 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 183206604 183206604 single base substitution G A 3_prime_UTR_variant MELA-AU 3 183206604 183206604 single base substitution G A downstream_gene_variant MELA-AU 3 183206896 183206896 single base substitution G A 3_prime_UTR_variant MELA-AU 3 183206896 183206896 single base substitution G A downstream_gene_variant MELA-AU 3 183206938 183206938 single base substitution C T 3_prime_UTR_variant MELA-AU 3 183206938 183206938 single base substitution C T downstream_gene_variant MELA-AU 3 183206944 183206944 single base substitution C T 3_prime_UTR_variant MELA-AU 3 183206944 183206944 single base substitution C T downstream_gene_variant MELA-AU 3 183207131 183207131 single base substitution C T 3_prime_UTR_variant MELA-AU 3 183207131 183207131 single base substitution C T downstream_gene_variant MELA-AU 3 183207313 183207313 single base substitution C T 3_prime_UTR_variant MELA-AU 3 183207313 183207313 single base substitution C T downstream_gene_variant MELA-AU 3 183207765 183207765 single base substitution G A 3_prime_UTR_variant MELA-AU 3 183207765 183207765 single base substitution G A downstream_gene_variant MELA-AU 3 183207887 183207887 single base substitution A G 3_prime_UTR_variant MELA-AU 3 183207887 183207887 single base substitution A G downstream_gene_variant MELA-AU 3 183207896 183207896 single base substitution T A 3_prime_UTR_variant MELA-AU 3 183207896 183207896 single base substitution T A downstream_gene_variant MELA-AU 3 183208476 183208476 single base substitution C T 3_prime_UTR_variant MELA-AU 3 183208476 183208476 single base substitution C T downstream_gene_variant MELA-AU 3 183208476 183208476 single base substitution C T intron_variant MELA-AU 3 183209350 183209350 single base substitution C T 3_prime_UTR_variant MELA-AU 3 183209350 183209350 single base substitution C T exon_variant MELA-AU 3 183209373 183209373 single base substitution C T 3_prime_UTR_variant MELA-AU 3 183209373 183209373 single base substitution C T exon_variant MELA-AU 3 183209462 183209462 single base substitution G A 3_prime_UTR_variant MELA-AU 3 183209462 183209462 single base substitution G A exon_variant MELA-AU 3 183209687 183209688 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 3 183209687 183209688 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 3 183210682 183210682 single base substitution C T exon_variant MELA-AU 3 183210682 183210682 single base substitution C T intron_variant MELA-AU 3 183210977 183210977 single base substitution G A exon_variant MELA-AU 3 183210977 183210977 single base substitution G A intron_variant MELA-AU 3 183211386 183211386 single base substitution A T exon_variant MELA-AU 3 183211386 183211386 single base substitution A T intron_variant MELA-AU 3 183211415 183211415 single base substitution C T exon_variant MELA-AU 3 183211415 183211415 single base substitution C T intron_variant MELA-AU 3 183211434 183211434 single base substitution G A exon_variant MELA-AU 3 183211434 183211434 single base substitution G A intron_variant MELA-AU 3 183211437 183211437 single base substitution G A exon_variant MELA-AU 3 183211437 183211437 single base substitution G A intron_variant MELA-AU 3 183211732 183211732 single base substitution G A exon_variant MELA-AU 3 183211732 183211732 single base substitution G A intron_variant MELA-AU 3 183212266 183212266 single base substitution G A intron_variant MELA-AU 3 183212576 183212576 single base substitution C T intron_variant MELA-AU 3 183213051 183213051 deletion of <=200bp T - intron_variant MELA-AU 3 183213697 183213697 single base substitution C T intron_variant MELA-AU 3 183213728 183213728 single base substitution A G intron_variant MELA-AU 3 183213731 183213731 single base substitution C T intron_variant MELA-AU 3 183213899 183213899 single base substitution G A intron_variant MELA-AU 3 183213939 183213939 single base substitution G A intron_variant MELA-AU 3 183214133 183214133 single base substitution C T intron_variant MELA-AU 3 183214209 183214209 single base substitution G A intron_variant MELA-AU 3 183214718 183214718 single base substitution G A intron_variant MELA-AU 3 183215321 183215321 single base substitution G C intron_variant MELA-AU 3 183215936 183215936 single base substitution C T intron_variant MELA-AU 3 183215945 183215945 single base substitution C T intron_variant MELA-AU 3 183216131 183216131 single base substitution G A intron_variant MELA-AU 3 183216225 183216226 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 183216230 183216230 single base substitution G A intron_variant MELA-AU 3 183216594 183216594 single base substitution G A intron_variant MELA-AU 3 183216976 183216976 single base substitution A T intron_variant MELA-AU 3 183217494 183217494 single base substitution C T exon_variant MELA-AU 3 183217494 183217494 single base substitution C T intron_variant MELA-AU 3 183217494 183217494 single base substitution C T missense_variant R344K 1031G>A MELA-AU 3 183217613 183217613 single base substitution G A intron_variant MELA-AU 3 183217613 183217613 single base substitution G A splice_region_variant MELA-AU 3 183217624 183217624 single base substitution C T intron_variant MELA-AU 3 183217625 183217625 single base substitution G A intron_variant MELA-AU 3 183218148 183218148 single base substitution G A intron_variant MELA-AU 3 183218318 183218318 single base substitution G A intron_variant MELA-AU 3 183218648 183218648 single base substitution C T intron_variant MELA-AU 3 183219200 183219200 single base substitution C T intron_variant MELA-AU 3 183219501 183219501 single base substitution C T intron_variant MELA-AU 3 183219627 183219627 single base substitution T A intron_variant MELA-AU 3 183219646 183219646 single base substitution C T intron_variant MELA-AU 3 183219647 183219647 single base substitution C T intron_variant MELA-AU 3 183219878 183219878 single base substitution G T intron_variant MELA-AU 3 183220131 183220131 single base substitution G A intron_variant MELA-AU 3 183220185 183220185 single base substitution C T intron_variant MELA-AU 3 183220226 183220226 single base substitution C T intron_variant MELA-AU 3 183220259 183220259 single base substitution C G intron_variant MELA-AU 3 183220921 183220921 single base substitution G A intron_variant MELA-AU 3 183220989 183220989 single base substitution G A intron_variant MELA-AU 3 183221140 183221140 single base substitution C T intron_variant MELA-AU 3 183221203 183221203 single base substitution C T intron_variant MELA-AU 3 183221645 183221645 single base substitution G A intron_variant MELA-AU 3 183221832 183221832 single base substitution G A intron_variant MELA-AU 3 183221856 183221856 single base substitution G A intron_variant MELA-AU 3 183221916 183221916 single base substitution G A intron_variant MELA-AU 3 183222337 183222337 single base substitution A C intron_variant MELA-AU 3 183222624 183222624 single base substitution T C intron_variant MELA-AU 3 183222873 183222873 single base substitution A T intron_variant MELA-AU 3 183223270 183223270 single base substitution G A intron_variant MELA-AU 3 183223328 183223328 single base substitution G A intron_variant MELA-AU 3 183223453 183223453 single base substitution G A intron_variant MELA-AU 3 183223593 183223593 single base substitution C T intron_variant MELA-AU 3 183224510 183224510 single base substitution G A intron_variant MELA-AU 3 183224548 183224548 single base substitution C T intron_variant MELA-AU 3 183224618 183224618 insertion of <=200bp - AAAT intron_variant MELA-AU 3 183224870 183224870 single base substitution G A intron_variant MELA-AU 3 183225065 183225065 single base substitution C T intron_variant MELA-AU 3 183225149 183225149 single base substitution G A intron_variant MELA-AU 3 183225751 183225751 single base substitution A G intron_variant MELA-AU 3 183225753 183225753 single base substitution G A intron_variant MELA-AU 3 183225754 183225754 single base substitution G A intron_variant MELA-AU 3 183225930 183225930 single base substitution C T exon_variant MELA-AU 3 183225930 183225930 single base substitution C T missense_variant E276K 826G>A MELA-AU 3 183226039 183226039 single base substitution C T exon_variant MELA-AU 3 183226039 183226039 single base substitution C T synonymous_variant V239V 717G>A MELA-AU 3 183226042 183226042 single base substitution G A exon_variant MELA-AU 3 183226042 183226042 single base substitution G A synonymous_variant T238T 714C>T MELA-AU 3 183226294 183226294 single base substitution G A splice_region_variant MELA-AU 3 183226480 183226480 single base substitution G A intron_variant MELA-AU 3 183226499 183226499 single base substitution C T intron_variant MELA-AU 3 183226539 183226539 single base substitution G A intron_variant MELA-AU 3 183226895 183226895 single base substitution G A intron_variant MELA-AU 3 183227132 183227132 single base substitution G A intron_variant MELA-AU 3 183227203 183227203 single base substitution G A intron_variant MELA-AU 3 183227455 183227455 single base substitution G A intron_variant MELA-AU 3 183227591 183227591 single base substitution C T intron_variant MELA-AU 3 183227677 183227677 single base substitution T C intron_variant MELA-AU 3 183227831 183227831 single base substitution C T intron_variant MELA-AU 3 183228046 183228046 single base substitution C T intron_variant MELA-AU 3 183228081 183228081 single base substitution G A intron_variant MELA-AU 3 183228182 183228183 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 183228195 183228195 single base substitution C T intron_variant MELA-AU 3 183228354 183228354 single base substitution G T intron_variant MELA-AU 3 183228384 183228384 single base substitution C G intron_variant MELA-AU 3 183228973 183228973 single base substitution T G intron_variant MELA-AU 3 183229248 183229249 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 183229669 183229669 single base substitution C T intron_variant MELA-AU 3 183229807 183229808 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 183230285 183230285 single base substitution T C intron_variant MELA-AU 3 183230402 183230402 single base substitution C T intron_variant MELA-AU 3 183230718 183230718 single base substitution C T intron_variant MELA-AU 3 183231129 183231129 single base substitution G A intron_variant MELA-AU 3 183231303 183231303 single base substitution G A intron_variant MELA-AU 3 183231539 183231539 single base substitution A G intron_variant MELA-AU 3 183231594 183231594 single base substitution A G intron_variant MELA-AU 3 183231834 183231834 single base substitution G A intron_variant MELA-AU 3 183231952 183231952 single base substitution G A intron_variant MELA-AU 3 183232041 183232041 single base substitution G A intron_variant MELA-AU 3 183232287 183232287 single base substitution G A intron_variant MELA-AU 3 183232320 183232320 single base substitution G A intron_variant MELA-AU 3 183232806 183232806 single base substitution G A intron_variant MELA-AU 3 183232809 183232809 single base substitution C T intron_variant MELA-AU 3 183232939 183232939 single base substitution A C intron_variant MELA-AU 3 183233081 183233081 single base substitution A T downstream_gene_variant MELA-AU 3 183233081 183233081 single base substitution A T intron_variant MELA-AU 3 183233259 183233259 single base substitution C T downstream_gene_variant MELA-AU 3 183233259 183233259 single base substitution C T intron_variant MELA-AU 3 183233262 183233262 single base substitution G A downstream_gene_variant MELA-AU 3 183233262 183233262 single base substitution G A intron_variant MELA-AU 3 183233362 183233362 single base substitution G A downstream_gene_variant MELA-AU 3 183233362 183233362 single base substitution G A intron_variant MELA-AU 3 183233826 183233826 single base substitution G A downstream_gene_variant MELA-AU 3 183233826 183233826 single base substitution G A intron_variant MELA-AU 3 183234778 183234778 single base substitution C T downstream_gene_variant MELA-AU 3 183234778 183234778 single base substitution C T intron_variant MELA-AU 3 183234922 183234922 single base substitution G A downstream_gene_variant MELA-AU 3 183234922 183234922 single base substitution G A intron_variant MELA-AU 3 183235165 183235165 single base substitution C T downstream_gene_variant MELA-AU 3 183235165 183235165 single base substitution C T intron_variant MELA-AU 3 183235359 183235360 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 183235359 183235360 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 183235966 183235966 single base substitution G A downstream_gene_variant MELA-AU 3 183235966 183235966 single base substitution G A intron_variant MELA-AU 3 183236032 183236032 single base substitution T A downstream_gene_variant MELA-AU 3 183236032 183236032 single base substitution T A intron_variant MELA-AU 3 183236115 183236115 single base substitution C T downstream_gene_variant MELA-AU 3 183236115 183236115 single base substitution C T intron_variant MELA-AU 3 183237611 183237611 single base substitution G A downstream_gene_variant MELA-AU 3 183237611 183237611 single base substitution G A intron_variant MELA-AU 3 183237781 183237781 single base substitution C G downstream_gene_variant MELA-AU 3 183237781 183237781 single base substitution C G intron_variant MELA-AU 3 183238128 183238128 single base substitution G A exon_variant MELA-AU 3 183238128 183238128 single base substitution G A intron_variant MELA-AU 3 183238307 183238307 single base substitution C T exon_variant MELA-AU 3 183238307 183238307 single base substitution C T intron_variant MELA-AU 3 183238612 183238612 single base substitution C T exon_variant MELA-AU 3 183238612 183238612 single base substitution C T intron_variant MELA-AU 3 183238691 183238691 single base substitution C T exon_variant MELA-AU 3 183238691 183238691 single base substitution C T intron_variant MELA-AU 3 183239264 183239265 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 3 183239264 183239265 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 183239415 183239415 single base substitution G A exon_variant MELA-AU 3 183239415 183239415 single base substitution G A intron_variant MELA-AU 3 183239960 183239960 single base substitution A C intron_variant MELA-AU 3 183240054 183240054 single base substitution C T intron_variant MELA-AU 3 183240833 183240833 single base substitution C T exon_variant MELA-AU 3 183240833 183240833 single base substitution C T intron_variant MELA-AU 3 183240913 183240913 single base substitution C T exon_variant MELA-AU 3 183240913 183240913 single base substitution C T intron_variant MELA-AU 3 183241130 183241130 single base substitution C T intron_variant MELA-AU 3 183241274 183241274 single base substitution C T intron_variant MELA-AU 3 183241444 183241444 single base substitution C T intron_variant MELA-AU 3 183241657 183241657 single base substitution C T intron_variant MELA-AU 3 183242122 183242122 single base substitution G A intron_variant MELA-AU 3 183242125 183242125 single base substitution C T intron_variant MELA-AU 3 183243115 183243116 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 183243790 183243790 single base substitution C T intron_variant MELA-AU 3 183243970 183243970 single base substitution A G intron_variant MELA-AU 3 183244093 183244093 single base substitution C T intron_variant MELA-AU 3 183244439 183244439 single base substitution A G intron_variant MELA-AU 3 183245354 183245354 single base substitution C T intron_variant MELA-AU 3 183245420 183245420 single base substitution C T intron_variant MELA-AU 3 183245641 183245641 single base substitution G A exon_variant MELA-AU 3 183245641 183245641 single base substitution G A missense_variant L151F 451C>T MELA-AU 3 183245846 183245846 single base substitution C T intron_variant MELA-AU 3 183246364 183246364 single base substitution C T intron_variant MELA-AU 3 183246393 183246393 single base substitution G A intron_variant MELA-AU 3 183246427 183246427 single base substitution G T intron_variant MELA-AU 3 183246772 183246772 single base substitution C T intron_variant MELA-AU 3 183246896 183246896 single base substitution G A intron_variant MELA-AU 3 183246957 183246957 single base substitution G A intron_variant MELA-AU 3 183247349 183247349 single base substitution G A intron_variant MELA-AU 3 183247489 183247489 single base substitution C T intron_variant MELA-AU 3 183247797 183247797 single base substitution G A intron_variant MELA-AU 3 183247798 183247798 single base substitution G A intron_variant MELA-AU 3 183247809 183247809 single base substitution G A intron_variant MELA-AU 3 183248126 183248126 single base substitution G A intron_variant MELA-AU 3 183248167 183248167 single base substitution C T intron_variant MELA-AU 3 183248191 183248191 single base substitution G A intron_variant MELA-AU 3 183248389 183248389 single base substitution G A intron_variant MELA-AU 3 183248425 183248425 single base substitution G C intron_variant MELA-AU 3 183248574 183248574 single base substitution G A intron_variant MELA-AU 3 183248827 183248827 single base substitution G A intron_variant MELA-AU 3 183248953 183248953 single base substitution C T intron_variant MELA-AU 3 183249028 183249028 single base substitution G A intron_variant MELA-AU 3 183249043 183249043 single base substitution G A intron_variant MELA-AU 3 183249128 183249128 single base substitution G A intron_variant MELA-AU 3 183249491 183249491 single base substitution C T intron_variant MELA-AU 3 183249523 183249523 single base substitution C T intron_variant MELA-AU 3 183249647 183249647 single base substitution G A intron_variant MELA-AU 3 183249661 183249661 single base substitution G A intron_variant MELA-AU 3 183249770 183249770 single base substitution G A intron_variant MELA-AU 3 183249806 183249806 single base substitution G A intron_variant MELA-AU 3 183249946 183249946 single base substitution G A intron_variant MELA-AU 3 183250037 183250037 single base substitution G A intron_variant MELA-AU 3 183250369 183250369 single base substitution G A intron_variant MELA-AU 3 183250630 183250630 single base substitution A G intron_variant MELA-AU 3 183250715 183250715 single base substitution G T intron_variant MELA-AU 3 183250758 183250758 single base substitution C T intron_variant MELA-AU 3 183250806 183250806 single base substitution G A intron_variant MELA-AU 3 183250943 183250943 single base substitution G A intron_variant MELA-AU 3 183251307 183251307 single base substitution C T intron_variant MELA-AU 3 183251902 183251902 single base substitution T G intron_variant MELA-AU 3 183252072 183252072 single base substitution G A intron_variant MELA-AU 3 183252405 183252405 single base substitution G A intron_variant MELA-AU 3 183252603 183252603 single base substitution T G intron_variant MELA-AU 3 183252824 183252825 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 183253207 183253207 single base substitution C T intron_variant MELA-AU 3 183253363 183253363 single base substitution G A intron_variant MELA-AU 3 183253784 183253784 single base substitution G A intron_variant MELA-AU 3 183253951 183253951 single base substitution A C intron_variant MELA-AU 3 183253976 183253976 single base substitution G A intron_variant MELA-AU 3 183253984 183253984 single base substitution G A intron_variant MELA-AU 3 183254052 183254052 single base substitution C T intron_variant MELA-AU 3 183255246 183255246 single base substitution G A intron_variant MELA-AU 3 183255558 183255558 single base substitution C T intron_variant MELA-AU 3 183255764 183255764 single base substitution C T intron_variant MELA-AU 3 183255809 183255809 single base substitution C T intron_variant MELA-AU 3 183256469 183256469 single base substitution G A intron_variant MELA-AU 3 183257026 183257026 single base substitution G A intron_variant MELA-AU 3 183258164 183258164 single base substitution G A intron_variant MELA-AU 3 183259127 183259127 single base substitution C T intron_variant MELA-AU 3 183259420 183259420 single base substitution G A intron_variant MELA-AU 3 183260352 183260352 single base substitution C T intron_variant MELA-AU 3 183260490 183260490 single base substitution C T intron_variant MELA-AU 3 183260679 183260679 single base substitution G A intron_variant MELA-AU 3 183260767 183260767 single base substitution C T intron_variant MELA-AU 3 183261414 183261414 single base substitution G A intron_variant MELA-AU 3 183261700 183261700 single base substitution C T intron_variant MELA-AU 3 183261827 183261827 single base substitution T C intron_variant MELA-AU 3 183261889 183261889 single base substitution T C intron_variant MELA-AU 3 183261939 183261939 single base substitution G A intron_variant MELA-AU 3 183262394 183262394 single base substitution C T exon_variant MELA-AU 3 183262394 183262394 single base substitution C T intron_variant MELA-AU 3 183262449 183262449 single base substitution C T exon_variant MELA-AU 3 183262449 183262449 single base substitution C T intron_variant MELA-AU 3 183262760 183262760 single base substitution C A intron_variant MELA-AU 3 183262760 183262760 single base substitution C A upstream_gene_variant MELA-AU 3 183262946 183262946 single base substitution G A intron_variant MELA-AU 3 183262946 183262946 single base substitution G A upstream_gene_variant MELA-AU 3 183263135 183263135 single base substitution G C intron_variant MELA-AU 3 183263135 183263135 single base substitution G C upstream_gene_variant MELA-AU 3 183263213 183263213 single base substitution G A intron_variant MELA-AU 3 183263213 183263213 single base substitution G A upstream_gene_variant MELA-AU 3 183263313 183263313 single base substitution T A intron_variant MELA-AU 3 183263313 183263313 single base substitution T A upstream_gene_variant MELA-AU 3 183263935 183263936 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 183263935 183263936 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 183264041 183264041 single base substitution G A intron_variant MELA-AU 3 183264041 183264041 single base substitution G A upstream_gene_variant MELA-AU 3 183264331 183264331 single base substitution C T intron_variant MELA-AU 3 183264331 183264331 single base substitution C T upstream_gene_variant MELA-AU 3 183264392 183264392 single base substitution G A intron_variant MELA-AU 3 183264392 183264392 single base substitution G A upstream_gene_variant MELA-AU 3 183264722 183264722 single base substitution G A intron_variant MELA-AU 3 183264722 183264722 single base substitution G A upstream_gene_variant MELA-AU 3 183266800 183266800 single base substitution G A intron_variant MELA-AU 3 183266800 183266800 single base substitution G A upstream_gene_variant MELA-AU 3 183266816 183266816 single base substitution G A intron_variant MELA-AU 3 183266816 183266816 single base substitution G A upstream_gene_variant MELA-AU 3 183267523 183267523 single base substitution G A intron_variant MELA-AU 3 183267523 183267523 single base substitution G A upstream_gene_variant MELA-AU 3 183267943 183267943 single base substitution T C intron_variant MELA-AU 3 183268375 183268375 single base substitution G A intron_variant MELA-AU 3 183268511 183268511 single base substitution G A intron_variant MELA-AU 3 183268954 183268954 single base substitution G A intron_variant MELA-AU 3 183269031 183269031 single base substitution G A intron_variant MELA-AU 3 183269237 183269237 single base substitution G A intron_variant MELA-AU 3 183269568 183269568 single base substitution G A intron_variant MELA-AU 3 183269592 183269592 single base substitution G A intron_variant MELA-AU 3 183269763 183269763 single base substitution G A intron_variant MELA-AU 3 183269912 183269913 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 183270026 183270026 single base substitution A G intron_variant MELA-AU 3 183270615 183270615 single base substitution G A intron_variant MELA-AU 3 183270705 183270705 single base substitution C T intron_variant MELA-AU 3 183270793 183270793 single base substitution G A intron_variant MELA-AU 3 183271079 183271080 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 183271262 183271262 single base substitution G A intron_variant MELA-AU 3 183271569 183271569 single base substitution G A intron_variant MELA-AU 3 183272942 183272942 single base substitution A G intron_variant MELA-AU 3 183273309 183273309 single base substitution C T exon_variant MELA-AU 3 183273309 183273309 single base substitution C T missense_variant E45K 133G>A MELA-AU 3 183273421 183273421 single base substitution C T exon_variant MELA-AU 3 183273421 183273421 single base substitution C T synonymous_variant R7R 21G>A MELA-AU 3 183273421 183273421 single base substitution C T upstream_gene_variant MELA-AU 3 183273477 183273477 single base substitution C T 5_prime_UTR_variant MELA-AU 3 183273477 183273477 single base substitution C T upstream_gene_variant MELA-AU 3 183273844 183273844 single base substitution C T upstream_gene_variant MELA-AU 3 183273974 183273974 single base substitution C T upstream_gene_variant MELA-AU 3 183274568 183274568 single base substitution G A upstream_gene_variant MELA-AU 3 183274937 183274937 single base substitution G A upstream_gene_variant MELA-AU 3 183274953 183274953 single base substitution C T upstream_gene_variant MELA-AU 3 183274973 183274973 single base substitution T C upstream_gene_variant MELA-AU 3 183275192 183275192 single base substitution G A upstream_gene_variant MELA-AU 3 183275289 183275289 single base substitution C T upstream_gene_variant MELA-AU 3 183275325 183275325 single base substitution G A upstream_gene_variant MELA-AU 3 183275338 183275338 single base substitution C T upstream_gene_variant MELA-AU 3 183275437 183275437 single base substitution G A upstream_gene_variant MELA-AU 3 183275609 183275609 single base substitution C T upstream_gene_variant MELA-AU 3 183275702 183275702 single base substitution G A upstream_gene_variant MELA-AU 3 183275727 183275727 single base substitution G A upstream_gene_variant MELA-AU 3 183275938 183275938 single base substitution C T upstream_gene_variant MELA-AU 3 183276362 183276362 single base substitution G A upstream_gene_variant MELA-AU 3 183276388 183276388 single base substitution A C upstream_gene_variant MELA-AU 3 183276558 183276559 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 183276868 183276868 single base substitution G A upstream_gene_variant MELA-AU 3 183276904 183276904 single base substitution C T upstream_gene_variant MELA-AU 3 183277596 183277596 single base substitution C T upstream_gene_variant MELA-AU 3 183277692 183277692 single base substitution A G upstream_gene_variant MELA-AU 3 183278192 183278192 single base substitution G A upstream_gene_variant ORCA-IN 3 183216424 183216424 single base substitution A T intron_variant ORCA-IN 3 183225921 183225921 single base substitution G T exon_variant ORCA-IN 3 183225921 183225921 single base substitution G T missense_variant P279T 835C>A ORCA-IN 3 183234368 183234368 single base substitution G C downstream_gene_variant ORCA-IN 3 183234368 183234368 single base substitution G C intron_variant OV-AU 3 183206536 183206536 single base substitution G C 3_prime_UTR_variant OV-AU 3 183206536 183206536 single base substitution G C downstream_gene_variant OV-AU 3 183206873 183206873 single base substitution C A 3_prime_UTR_variant OV-AU 3 183206873 183206873 single base substitution C A downstream_gene_variant OV-AU 3 183209594 183209594 single base substitution G A 3_prime_UTR_variant OV-AU 3 183209594 183209594 single base substitution G A exon_variant OV-AU 3 183209837 183209837 single base substitution C T exon_variant OV-AU 3 183209837 183209837 single base substitution C T missense_variant E582K 1744G>A OV-AU 3 183210678 183210678 single base substitution C T exon_variant OV-AU 3 183210678 183210678 single base substitution C T intron_variant OV-AU 3 183212594 183212594 single base substitution G C intron_variant OV-AU 3 183215957 183215957 single base substitution G T intron_variant OV-AU 3 183217102 183217102 single base substitution C G intron_variant OV-AU 3 183218889 183218889 single base substitution C G intron_variant OV-AU 3 183226884 183226884 single base substitution G A intron_variant OV-AU 3 183227239 183227239 single base substitution G A intron_variant OV-AU 3 183228729 183228729 single base substitution T C intron_variant OV-AU 3 183230489 183230489 single base substitution G C intron_variant OV-AU 3 183230899 183230899 single base substitution C T intron_variant OV-AU 3 183235659 183235659 single base substitution A G downstream_gene_variant OV-AU 3 183235659 183235659 single base substitution A G intron_variant OV-AU 3 183235683 183235683 single base substitution G A downstream_gene_variant OV-AU 3 183235683 183235683 single base substitution G A intron_variant OV-AU 3 183238548 183238548 single base substitution C A exon_variant OV-AU 3 183238548 183238548 single base substitution C A intron_variant OV-AU 3 183242184 183242184 single base substitution G T intron_variant OV-AU 3 183243922 183243922 single base substitution C A intron_variant OV-AU 3 183244080 183244080 single base substitution C G intron_variant OV-AU 3 183245248 183245248 single base substitution T A intron_variant OV-AU 3 183245952 183245952 single base substitution C T intron_variant OV-AU 3 183246193 183246193 single base substitution C A intron_variant OV-AU 3 183248650 183248650 single base substitution C A intron_variant OV-AU 3 183251144 183251144 single base substitution C T intron_variant OV-AU 3 183251804 183251804 single base substitution A G intron_variant OV-AU 3 183256453 183256453 single base substitution A T intron_variant OV-AU 3 183258468 183258468 single base substitution A T intron_variant OV-AU 3 183259979 183259979 single base substitution C T intron_variant OV-AU 3 183260009 183260009 single base substitution G T intron_variant OV-AU 3 183260197 183260197 single base substitution C G intron_variant OV-AU 3 183262017 183262017 single base substitution A C intron_variant OV-AU 3 183265442 183265442 single base substitution G A intron_variant OV-AU 3 183265442 183265442 single base substitution G A upstream_gene_variant OV-AU 3 183267853 183267853 single base substitution C G intron_variant OV-AU 3 183269563 183269563 single base substitution C A intron_variant OV-AU 3 183272784 183272784 single base substitution C G intron_variant OV-AU 3 183275844 183275844 single base substitution A G upstream_gene_variant OV-US 3 183210290 183210290 single base substitution T C exon_variant OV-US 3 183210290 183210290 single base substitution T C missense_variant Y519C 1556A>G PACA-AU 3 183200546 183200546 single base substitution A C downstream_gene_variant PACA-AU 3 183203940 183203940 single base substitution T C downstream_gene_variant PACA-AU 3 183205622 183205622 deletion of <=200bp A - 3_prime_UTR_variant PACA-AU 3 183205622 183205622 deletion of <=200bp A - downstream_gene_variant PACA-AU 3 183206648 183206648 single base substitution T C 3_prime_UTR_variant PACA-AU 3 183206648 183206648 single base substitution T C downstream_gene_variant PACA-AU 3 183207007 183207007 single base substitution G A 3_prime_UTR_variant PACA-AU 3 183207007 183207007 single base substitution G A downstream_gene_variant PACA-AU 3 183224618 183224621 deletion of <=200bp AAAT - intron_variant PACA-AU 3 183226066 183226066 single base substitution G A exon_variant PACA-AU 3 183226066 183226066 single base substitution G A synonymous_variant T230T 690C>T PACA-AU 3 183227510 183227510 single base substitution C T intron_variant PACA-AU 3 183228663 183228663 insertion of <=200bp - AAATAAATAAATAAAT intron_variant PACA-AU 3 183232466 183232466 single base substitution T C intron_variant PACA-AU 3 183241419 183241419 single base substitution G T intron_variant PACA-AU 3 183241841 183241841 single base substitution G A intron_variant PACA-AU 3 183242355 183242355 single base substitution G A intron_variant PACA-AU 3 183243059 183243059 single base substitution C A intron_variant PACA-AU 3 183245081 183245081 deletion of <=200bp A - intron_variant PACA-AU 3 183247681 183247681 single base substitution C G intron_variant PACA-AU 3 183251961 183251961 single base substitution T C intron_variant PACA-AU 3 183253813 183253813 single base substitution C T intron_variant PACA-AU 3 183256357 183256357 deletion of <=200bp T - intron_variant PACA-AU 3 183260677 183260677 single base substitution T C intron_variant PACA-AU 3 183260678 183260678 single base substitution G A intron_variant PACA-AU 3 183261470 183261470 single base substitution C T intron_variant PACA-AU 3 183264934 183264934 single base substitution C A intron_variant PACA-AU 3 183264934 183264934 single base substitution C A upstream_gene_variant PACA-AU 3 183266340 183266340 single base substitution C T intron_variant PACA-AU 3 183266340 183266340 single base substitution C T upstream_gene_variant PACA-AU 3 183275233 183275233 single base substitution G T upstream_gene_variant PACA-AU 3 183275284 183275284 single base substitution G A upstream_gene_variant PACA-AU 3 183276614 183276614 single base substitution C T upstream_gene_variant PACA-AU 3 183278228 183278228 single base substitution C T upstream_gene_variant PACA-CA 3 183200499 183200499 single base substitution A G downstream_gene_variant PACA-CA 3 183203616 183203616 single base substitution C T downstream_gene_variant PACA-CA 3 183205789 183205789 single base substitution T C 3_prime_UTR_variant PACA-CA 3 183205789 183205789 single base substitution T C downstream_gene_variant PACA-CA 3 183207383 183207383 single base substitution C A 3_prime_UTR_variant PACA-CA 3 183207383 183207383 single base substitution C A downstream_gene_variant PACA-CA 3 183210048 183210048 single base substitution G A exon_variant PACA-CA 3 183210048 183210048 single base substitution G A intron_variant PACA-CA 3 183211020 183211020 single base substitution C A exon_variant PACA-CA 3 183211020 183211020 single base substitution C A intron_variant PACA-CA 3 183212689 183212689 single base substitution C G intron_variant PACA-CA 3 183213816 183213816 single base substitution A C intron_variant PACA-CA 3 183214842 183214842 single base substitution G A intron_variant PACA-CA 3 183222561 183222561 single base substitution T C intron_variant PACA-CA 3 183222811 183222811 insertion of <=200bp - A intron_variant PACA-CA 3 183223390 183223390 single base substitution T C intron_variant PACA-CA 3 183224287 183224311 deletion of <=200bp GTGCTGTGATGGAGCAATGCACCAA - intron_variant PACA-CA 3 183225517 183225517 single base substitution C A intron_variant PACA-CA 3 183226795 183226795 single base substitution G A intron_variant PACA-CA 3 183231878 183231878 single base substitution T C intron_variant PACA-CA 3 183232441 183232441 insertion of <=200bp - T intron_variant PACA-CA 3 183232732 183232732 single base substitution A G intron_variant PACA-CA 3 183237425 183237425 single base substitution A G downstream_gene_variant PACA-CA 3 183237425 183237425 single base substitution A G intron_variant PACA-CA 3 183238992 183238992 single base substitution G A exon_variant PACA-CA 3 183238992 183238992 single base substitution G A intron_variant PACA-CA 3 183242536 183242536 single base substitution A T intron_variant PACA-CA 3 183243636 183243636 single base substitution G A intron_variant PACA-CA 3 183245538 183245550 deletion of <=200bp GGTACAGGCCTGG - intron_variant PACA-CA 3 183249416 183249416 single base substitution A G intron_variant PACA-CA 3 183249790 183249790 single base substitution C A intron_variant PACA-CA 3 183251938 183251941 deletion of <=200bp AAAA - intron_variant PACA-CA 3 183251941 183251941 single base substitution A G intron_variant PACA-CA 3 183252686 183252686 single base substitution G A intron_variant PACA-CA 3 183254526 183254526 single base substitution G T intron_variant PACA-CA 3 183255964 183255964 single base substitution G A intron_variant PACA-CA 3 183257867 183257867 single base substitution C T intron_variant PACA-CA 3 183259811 183259811 single base substitution G T intron_variant PACA-CA 3 183259935 183259935 single base substitution C G intron_variant PACA-CA 3 183260750 183260750 single base substitution T C intron_variant PACA-CA 3 183263162 183263162 insertion of <=200bp - A intron_variant PACA-CA 3 183263162 183263162 insertion of <=200bp - A upstream_gene_variant PACA-CA 3 183264274 183264274 single base substitution G T intron_variant PACA-CA 3 183264274 183264274 single base substitution G T upstream_gene_variant PACA-CA 3 183270581 183270581 single base substitution C T intron_variant PACA-CA 3 183272246 183272246 single base substitution T C intron_variant PACA-CA 3 183272653 183272653 single base substitution A G intron_variant PACA-CA 3 183275327 183275327 single base substitution A T upstream_gene_variant PACA-CA 3 183276923 183276923 single base substitution G A upstream_gene_variant PAEN-AU 3 183201659 183201659 insertion of <=200bp - TC downstream_gene_variant PAEN-AU 3 183205672 183205672 single base substitution T C 3_prime_UTR_variant PAEN-AU 3 183205672 183205672 single base substitution T C downstream_gene_variant PAEN-AU 3 183251909 183251909 single base substitution T A intron_variant PAEN-IT 3 183240911 183240911 single base substitution G T exon_variant PAEN-IT 3 183240911 183240911 single base substitution G T intron_variant PAEN-IT 3 183265442 183265442 single base substitution G A intron_variant PAEN-IT 3 183265442 183265442 single base substitution G A upstream_gene_variant PBCA-DE 3 183202289 183202289 deletion of <=200bp T - downstream_gene_variant PBCA-DE 3 183203721 183203722 deletion of <=200bp CA - downstream_gene_variant PBCA-DE 3 183208850 183208850 single base substitution G C 3_prime_UTR_variant PBCA-DE 3 183208850 183208850 single base substitution G C exon_variant PBCA-DE 3 183208850 183208850 single base substitution G C intron_variant PBCA-DE 3 183210205 183210205 single base substitution G A exon_variant PBCA-DE 3 183210205 183210205 single base substitution G A intron_variant PBCA-DE 3 183228094 183228094 single base substitution T G intron_variant PBCA-DE 3 183240272 183240272 single base substitution G A exon_variant PBCA-DE 3 183240272 183240272 single base substitution G A intron_variant PBCA-DE 3 183242566 183242566 single base substitution C T intron_variant PBCA-DE 3 183242872 183242872 single base substitution T C intron_variant PBCA-DE 3 183245488 183245489 deletion of <=200bp GT - intron_variant PBCA-DE 3 183251873 183251873 single base substitution C A intron_variant PBCA-DE 3 183251874 183251874 single base substitution T A intron_variant PBCA-DE 3 183251875 183251875 single base substitution T G intron_variant PBCA-DE 3 183252350 183252350 single base substitution T C intron_variant PBCA-DE 3 183253996 183253996 deletion of <=200bp G - intron_variant PBCA-DE 3 183261893 183261893 single base substitution G A intron_variant PRAD-CA 3 183203587 183203587 single base substitution C T downstream_gene_variant PRAD-CA 3 183205592 183205592 single base substitution A G 3_prime_UTR_variant PRAD-CA 3 183205592 183205592 single base substitution A G downstream_gene_variant PRAD-CA 3 183219255 183219255 single base substitution C T intron_variant PRAD-CA 3 183239674 183239674 single base substitution G A intron_variant PRAD-CA 3 183239948 183239948 single base substitution T C intron_variant PRAD-CA 3 183250307 183250307 single base substitution C T intron_variant PRAD-CA 3 183252611 183252611 single base substitution G A intron_variant PRAD-CA 3 183252662 183252662 single base substitution A G intron_variant PRAD-CA 3 183256039 183256039 single base substitution G T intron_variant PRAD-UK 3 183204174 183204174 single base substitution A G downstream_gene_variant PRAD-UK 3 183218434 183218447 deletion of <=200bp AATTATGCCTGTAG - intron_variant PRAD-UK 3 183223904 183223904 single base substitution T C intron_variant PRAD-UK 3 183226631 183226631 single base substitution C T intron_variant PRAD-UK 3 183231108 183231108 single base substitution A G intron_variant PRAD-UK 3 183235186 183235186 single base substitution G A downstream_gene_variant PRAD-UK 3 183235186 183235186 single base substitution G A intron_variant PRAD-UK 3 183249683 183249683 single base substitution A G intron_variant PRAD-UK 3 183257225 183257225 single base substitution C T intron_variant PRAD-UK 3 183267212 183267212 single base substitution C G intron_variant PRAD-UK 3 183267212 183267212 single base substitution C G upstream_gene_variant PRAD-UK 3 183269636 183269636 single base substitution C T intron_variant PRAD-UK 3 183276907 183276930 deletion of <=200bp GCCTGGGCAACAGAGCGGAGACCT - upstream_gene_variant PRAD-US 3 183273149 183273149 single base substitution C G missense_variant R98T 293G>C PRAD-US 3 183273149 183273149 single base substitution C G splice_region_variant READ-US 3 183210392 183210392 single base substitution T G exon_variant READ-US 3 183210392 183210392 single base substitution T G missense_variant K485T 1454A>C READ-US 3 183211938 183211938 single base substitution C T exon_variant READ-US 3 183211938 183211938 single base substitution C T missense_variant G427R 1279G>A RECA-EU 3 183203178 183203178 single base substitution C A downstream_gene_variant RECA-EU 3 183206826 183206826 single base substitution A G 3_prime_UTR_variant RECA-EU 3 183206826 183206826 single base substitution A G downstream_gene_variant RECA-EU 3 183214521 183214521 single base substitution A C intron_variant RECA-EU 3 183221576 183221576 single base substitution A C intron_variant RECA-EU 3 183225676 183225676 single base substitution A T intron_variant RECA-EU 3 183230285 183230285 single base substitution T C intron_variant RECA-EU 3 183233271 183233271 single base substitution G A downstream_gene_variant RECA-EU 3 183233271 183233271 single base substitution G A intron_variant RECA-EU 3 183236657 183236657 single base substitution G T downstream_gene_variant RECA-EU 3 183236657 183236657 single base substitution G T intron_variant RECA-EU 3 183249987 183249987 single base substitution C G intron_variant RECA-EU 3 183256483 183256483 single base substitution C A intron_variant RECA-EU 3 183261165 183261165 single base substitution A T intron_variant RECA-EU 3 183263860 183263860 single base substitution T A intron_variant RECA-EU 3 183263860 183263860 single base substitution T A upstream_gene_variant RECA-EU 3 183273301 183273301 single base substitution G T exon_variant RECA-EU 3 183273301 183273301 single base substitution G T synonymous_variant V47V 141C>A SKCA-BR 3 183201656 183201656 insertion of <=200bp - CTT downstream_gene_variant SKCA-BR 3 183201934 183201934 single base substitution G C downstream_gene_variant SKCA-BR 3 183204108 183204108 single base substitution C T downstream_gene_variant SKCA-BR 3 183204550 183204550 single base substitution G A downstream_gene_variant SKCA-BR 3 183206033 183206033 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 183206033 183206033 single base substitution G A downstream_gene_variant SKCA-BR 3 183206191 183206191 single base substitution C A 3_prime_UTR_variant SKCA-BR 3 183206191 183206191 single base substitution C A downstream_gene_variant SKCA-BR 3 183208582 183208583 deletion of <=200bp CA - 3_prime_UTR_variant SKCA-BR 3 183208582 183208583 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 3 183208582 183208583 deletion of <=200bp CA - intron_variant SKCA-BR 3 183208619 183208619 single base substitution C G 3_prime_UTR_variant SKCA-BR 3 183208619 183208619 single base substitution C G downstream_gene_variant SKCA-BR 3 183208619 183208619 single base substitution C G intron_variant SKCA-BR 3 183208881 183208893 deletion of <=200bp CTTTGTTTTTGTT - 3_prime_UTR_variant SKCA-BR 3 183208881 183208893 deletion of <=200bp CTTTGTTTTTGTT - exon_variant SKCA-BR 3 183208881 183208893 deletion of <=200bp CTTTGTTTTTGTT - intron_variant SKCA-BR 3 183209683 183209683 single base substitution T G 3_prime_UTR_variant SKCA-BR 3 183209683 183209683 single base substitution T G exon_variant SKCA-BR 3 183213555 183213555 single base substitution G A intron_variant SKCA-BR 3 183213630 183213630 single base substitution G A intron_variant SKCA-BR 3 183217061 183217061 single base substitution G A intron_variant SKCA-BR 3 183217384 183217384 single base substitution T G exon_variant SKCA-BR 3 183217384 183217384 single base substitution T G intron_variant SKCA-BR 3 183217384 183217384 single base substitution T G missense_variant I381L 1141A>C SKCA-BR 3 183218598 183218598 single base substitution C T intron_variant SKCA-BR 3 183218912 183218912 single base substitution T G intron_variant SKCA-BR 3 183221856 183221856 single base substitution G A intron_variant SKCA-BR 3 183222406 183222406 single base substitution G A intron_variant SKCA-BR 3 183224032 183224032 single base substitution G A intron_variant SKCA-BR 3 183224215 183224215 single base substitution C T intron_variant SKCA-BR 3 183225038 183225038 single base substitution G A intron_variant SKCA-BR 3 183237706 183237706 single base substitution C A downstream_gene_variant SKCA-BR 3 183237706 183237706 single base substitution C A intron_variant SKCA-BR 3 183238097 183238097 single base substitution T G exon_variant SKCA-BR 3 183238097 183238097 single base substitution T G intron_variant SKCA-BR 3 183238439 183238439 single base substitution G A exon_variant SKCA-BR 3 183238439 183238439 single base substitution G A intron_variant SKCA-BR 3 183240181 183240181 single base substitution A G exon_variant SKCA-BR 3 183240181 183240181 single base substitution A G intron_variant SKCA-BR 3 183241135 183241135 single base substitution G A intron_variant SKCA-BR 3 183242267 183242267 single base substitution A C intron_variant SKCA-BR 3 183243051 183243051 insertion of <=200bp - AACACACACACACACACAC intron_variant SKCA-BR 3 183246179 183246179 single base substitution C T intron_variant SKCA-BR 3 183247278 183247278 single base substitution G A intron_variant SKCA-BR 3 183248126 183248126 single base substitution G A intron_variant SKCA-BR 3 183251536 183251536 single base substitution G A intron_variant SKCA-BR 3 183252721 183252723 deletion of <=200bp CAT - intron_variant SKCA-BR 3 183252733 183252734 deletion of <=200bp TA - intron_variant SKCA-BR 3 183252735 183252736 deletion of <=200bp TA - intron_variant SKCA-BR 3 183252736 183252736 single base substitution A T intron_variant SKCA-BR 3 183252737 183252738 deletion of <=200bp TA - intron_variant SKCA-BR 3 183252738 183252738 single base substitution A T intron_variant SKCA-BR 3 183252899 183252899 single base substitution A T intron_variant SKCA-BR 3 183252925 183252925 single base substitution G T intron_variant SKCA-BR 3 183252964 183252964 single base substitution C T intron_variant SKCA-BR 3 183260676 183260676 insertion of <=200bp - ATGGG intron_variant SKCA-BR 3 183266794 183266794 single base substitution A G intron_variant SKCA-BR 3 183266794 183266794 single base substitution A G upstream_gene_variant SKCA-BR 3 183266822 183266822 single base substitution T A intron_variant SKCA-BR 3 183266822 183266822 single base substitution T A upstream_gene_variant SKCA-BR 3 183266860 183266860 single base substitution T G intron_variant SKCA-BR 3 183266860 183266860 single base substitution T G upstream_gene_variant SKCA-BR 3 183269393 183269393 single base substitution G A intron_variant SKCA-BR 3 183270798 183270798 single base substitution G T intron_variant SKCA-BR 3 183271089 183271089 single base substitution C T intron_variant SKCA-BR 3 183271780 183271780 single base substitution G A intron_variant SKCA-BR 3 183274757 183274757 single base substitution G A upstream_gene_variant SKCM-US 3 183209732 183209732 single base substitution C T exon_variant SKCM-US 3 183209732 183209732 single base substitution C T missense_variant G617R 1849G>A SKCM-US 3 183209742 183209742 single base substitution C T exon_variant SKCM-US 3 183209742 183209742 single base substitution C T synonymous_variant R613R 1839G>A SKCM-US 3 183209743 183209743 single base substitution C T exon_variant SKCM-US 3 183209743 183209743 single base substitution C T missense_variant R613K 1838G>A SKCM-US 3 183209862 183209862 single base substitution G A exon_variant SKCM-US 3 183209862 183209862 single base substitution G A synonymous_variant I573I 1719C>T SKCM-US 3 183210292 183210292 single base substitution G A exon_variant SKCM-US 3 183210292 183210292 single base substitution G A synonymous_variant I518I 1554C>T SKCM-US 3 183210300 183210300 single base substitution C T exon_variant SKCM-US 3 183210300 183210300 single base substitution C T missense_variant D516N 1546G>A SKCM-US 3 183210442 183210442 single base substitution C T exon_variant SKCM-US 3 183210442 183210442 single base substitution C T synonymous_variant K468K 1404G>A SKCM-US 3 183217380 183217380 single base substitution G A intron_variant SKCM-US 3 183217380 183217380 single base substitution G A missense_variant S382L 1145C>T SKCM-US 3 183217380 183217380 single base substitution G A splice_region_variant SKCM-US 3 183217466 183217466 single base substitution G A exon_variant SKCM-US 3 183217466 183217466 single base substitution G A intron_variant SKCM-US 3 183217466 183217466 single base substitution G A synonymous_variant L353L 1059C>T SKCM-US 3 183217608 183217608 single base substitution G A exon_variant SKCM-US 3 183217608 183217608 single base substitution G A intron_variant SKCM-US 3 183217608 183217608 single base substitution G A missense_variant S306L 917C>T SKCM-US 3 183217613 183217613 single base substitution G A intron_variant SKCM-US 3 183217613 183217613 single base substitution G A splice_region_variant SKCM-US 3 183226035 183226035 single base substitution T C exon_variant SKCM-US 3 183226035 183226035 single base substitution T C missense_variant S241G 721A>G SKCM-US 3 183226039 183226039 single base substitution C T exon_variant SKCM-US 3 183226039 183226039 single base substitution C T synonymous_variant V239V 717G>A SKCM-US 3 183226214 183226214 single base substitution G A exon_variant SKCM-US 3 183226214 183226214 single base substitution G A missense_variant A181V 542C>T SKCM-US 3 183245701 183245701 single base substitution A T exon_variant SKCM-US 3 183245701 183245701 single base substitution A T missense_variant Y131N 391T>A SKCM-US 3 183273311 183273311 single base substitution C T exon_variant SKCM-US 3 183273311 183273311 single base substitution C T missense_variant G44E 131G>A STAD-US 3 183209848 183209848 single base substitution C T exon_variant STAD-US 3 183209848 183209848 single base substitution C T missense_variant C578Y 1733G>A STAD-US 3 183209880 183209880 single base substitution G A exon_variant STAD-US 3 183209880 183209880 single base substitution G A synonymous_variant D567D 1701C>T STAD-US 3 183211985 183211985 single base substitution C A exon_variant STAD-US 3 183211985 183211985 single base substitution C A missense_variant R411L 1232G>T STAD-US 3 183225901 183225901 single base substitution T C exon_variant STAD-US 3 183225901 183225901 single base substitution T C synonymous_variant P285P 855A>G STAD-US 3 183225953 183225953 single base substitution G T exon_variant STAD-US 3 183225953 183225953 single base substitution G T missense_variant P268Q 803C>A STAD-US 3 183226231 183226231 single base substitution A G exon_variant STAD-US 3 183226231 183226231 single base substitution A G synonymous_variant V175V 525T>C STAD-US 3 183245660 183245660 single base substitution C A exon_variant STAD-US 3 183245660 183245660 single base substitution C A synonymous_variant R144R 432G>T STAD-US 3 183273199 183273199 single base substitution C A exon_variant STAD-US 3 183273199 183273199 single base substitution C A missense_variant Q81H 243G>T STAD-US 3 183273230 183273230 single base substitution A G exon_variant STAD-US 3 183273230 183273230 single base substitution A G missense_variant L71P 212T>C STAD-US 3 183273234 183273234 single base substitution C T exon_variant STAD-US 3 183273234 183273234 single base substitution C T missense_variant A70T 208G>A STAD-US 3 183273245 183273245 single base substitution C T exon_variant STAD-US 3 183273245 183273245 single base substitution C T missense_variant R66Q 197G>A THCA-SA 3 183207519 183207519 single base substitution C T 3_prime_UTR_variant THCA-SA 3 183207519 183207519 single base substitution C T downstream_gene_variant THCA-SA 3 183207554 183207554 single base substitution T C 3_prime_UTR_variant THCA-SA 3 183207554 183207554 single base substitution T C downstream_gene_variant UCEC-US 3 183209790 183209790 single base substitution C T exon_variant UCEC-US 3 183209790 183209790 single base substitution C T synonymous_variant S597S 1791G>A UCEC-US 3 183209811 183209811 single base substitution G A exon_variant UCEC-US 3 183209811 183209811 single base substitution G A synonymous_variant C590C 1770C>T UCEC-US 3 183209839 183209839 single base substitution G A exon_variant UCEC-US 3 183209839 183209839 single base substitution G A missense_variant P581L 1742C>T UCEC-US 3 183210347 183210347 single base substitution G A exon_variant UCEC-US 3 183210347 183210347 single base substitution G A missense_variant A500V 1499C>T UCEC-US 3 183210354 183210354 single base substitution A G exon_variant UCEC-US 3 183210354 183210354 single base substitution A G synonymous_variant L498L 1492T>C UCEC-US 3 183211893 183211893 single base substitution C T exon_variant UCEC-US 3 183211893 183211893 single base substitution C T missense_variant D442N 1324G>A UCEC-US 3 183212027 183212027 single base substitution G A exon_variant UCEC-US 3 183212027 183212027 single base substitution G A missense_variant S397L 1190C>T UCEC-US 3 183217608 183217608 single base substitution G A exon_variant UCEC-US 3 183217608 183217608 single base substitution G A intron_variant UCEC-US 3 183217608 183217608 single base substitution G A missense_variant S306L 917C>T UCEC-US 3 183226156 183226156 single base substitution G A exon_variant UCEC-US 3 183226156 183226156 single base substitution G A synonymous_variant N200N 600C>T UCEC-US 3 183226290 183226290 single base substitution G A exon_variant UCEC-US 3 183226290 183226290 single base substitution G A missense_variant R156W 466C>T UCEC-US 3 183245736 183245736 single base substitution T C exon_variant UCEC-US 3 183245736 183245736 single base substitution T C missense_variant D119G 356A>G UCEC-US 3 183245782 183245782 single base substitution C A exon_variant UCEC-US 3 183245782 183245782 single base substitution C A missense_variant D104Y 310G>T UCEC-US 3 183273167 183273167 single base substitution G A exon_variant UCEC-US 3 183273167 183273167 single base substitution G A missense_variant A92V 275C>T UCEC-US 3 183273245 183273245 single base substitution C T exon_variant UCEC-US 3 183273245 183273245 single base substitution C T missense_variant R66Q 197G>A UCEC-US 3 183273288 183273288 single base substitution C T exon_variant UCEC-US 3 183273288 183273288 single base substitution C T missense_variant A52T 154G>A UCEC-US 3 183273319 183273319 single base substitution G T exon_variant UCEC-US 3 183273319 183273319 single base substitution G T synonymous_variant I41I 123C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-HU-A4H4-01 COSM4115585 c.803C>A p.P268Q Substitution - Missense 3:183508165-183508165 - WA16 COSM237633 c.207C>T p.N69N Substitution - coding silent 3:183555447-183555447 - NB-1744 COSM1285807 c.1017C>A p.C339* Substitution - Nonsense 3:183499720-183499720 - CPCG0020-F1 COSM3927781 c.1390A>C p.T464P Substitution - Missense 3:183492668-183492668 - TCGA-D1-A103-01 COSM1041805 c.154G>A p.A52T Substitution - Missense 3:183555500-183555500 - TCGA-A3-3374-01 COSM1495473 c.1659C>A p.I553I Substitution - coding silent 3:183492134-183492134 - 003-0005-09TD COSM96840 c.194T>C p.L65P Substitution - Missense 3:183555460-183555460 - LUAD-YINHD COSM232640 c.1820C>T p.S607L Substitution - Missense 3:183491973-183491973 - TCGA-AP-A051-01 COSM1041791 c.1791G>A p.S597S Substitution - coding silent 3:183492002-183492002 - sysucc-1116T COSM5483079 c.1033C>T p.R345C Substitution - Missense 3:183499704-183499704 - HCC079T COSM5808014 c.158G>T p.G53V Substitution - Missense 3:183555496-183555496 - S26_post COSM5574717 c.311A>C p.D104A Substitution - Missense 3:183527993-183527993 - AOCS-056-1-X COSM1658914 c.1744G>A p.E582K Substitution - Missense 3:183492049-183492049 - tumor_4178310 COSM1161452 c.1040G>A p.R347H Substitution - Missense 3:183499697-183499697 - TCGA-D3-A1Q6-06 COSM3330095 c.1719C>T p.I573I Substitution - coding silent 3:183492074-183492074 - TCGA-EE-A3J5-06 COSM3590527 c.1546G>A p.D516N Substitution - Missense 3:183492512-183492512 - 3737 COSM4169456 c.1862_1865delTCTG p.V621fs? Deletion - Frameshift 3:183491928-183491931 - 10748 COSM3728144 c.1640A>G p.E547G Substitution - Missense 3:183492153-183492153 - TCGA-AP-A0LM-01 COSM582728 c.123C>A p.I41I Substitution - coding silent 3:183555531-183555531 - TCGA-JW-A5VL-01 COSM1041804 c.197G>A p.R66Q Substitution - Missense 3:183555457-183555457 - ccRCC-102 COSM1660297 c.1330T>G p.F444V Substitution - Missense 3:183494099-183494099 - TCGA-AP-A051-01 COSM1041801 c.356A>G p.D119G Substitution - Missense 3:183527948-183527948 - HCC22T COSM3660368 c.463C>T p.L155L Substitution - coding silent 3:183508505-183508505 - HN_62825 COSM128347 c.1725G>A p.T575T Substitution - coding silent 3:183492068-183492068 - CSCC-27-T COSM4524901 c.1299G>A p.Q433Q Substitution - coding silent 3:183494130-183494130 - TCGA-D5-6930-01 COSM1041792 c.1770C>T p.C590C Substitution - coding silent 3:183492023-183492023 - DLBCL-PatientE COSM220347 c.281G>C p.S94T Substitution - Missense 3:183555373-183555373 - TCGA-FD-A3N6-01 COSM1308875 c.775G>A p.E259K Substitution - Missense 3:183508193-183508193 - CSCC-15-T COSM4535325 c.217G>A p.D73N Substitution - Missense 3:183555437-183555437 - T3174 COSM4696587 c.1581G>A p.A527A Substitution - coding silent 3:183492212-183492212 - CSCC-55-T COSM4531828 c.182G>A p.G61D Substitution - Missense 3:183555472-183555472 - B87-Tumor COSM1537299 c.951G>T p.Q317H Substitution - Missense 3:183499786-183499786 - CSCC-10-T COSM4520695 c.106G>A p.G36R Substitution - Missense 3:183555548-183555548 - TCGA-A8-A0A6-01 COSM3846844 c.704T>G p.V235G Substitution - Missense 3:183508264-183508264 - CHC1704T COSM4804062 c.68C>A p.P23H Substitution - Missense 3:183555586-183555586 - 587226 COSM1041795 c.1499C>T p.A500V Substitution - Missense 3:183492559-183492559 - 7_tFL COSM4171221 c.1639G>A p.E547K Substitution - Missense 3:183492154-183492154 - BD239T COSM5497072 c.164C>G p.S55C Substitution - Missense 3:183555490-183555490 - ME012T COSM224662 c.310G>A p.D104N Substitution - Missense 3:183527994-183527994 - sysucc-1972T COSM5480459 c.259C>T p.R87C Substitution - Missense 3:183555395-183555395 - TCGA-CG-5723-01 COSM4115588 c.243G>T p.Q81H Substitution - Missense 3:183555411-183555411 - TCGA-BR-6452-01 COSM4115581 c.1733G>A p.C578Y Substitution - Missense 3:183492060-183492060 - TCGA-06-5859-01 COSM2153397 c.748C>T p.R250* Substitution - Nonsense 3:183508220-183508220 - I2L-P7-Tumor-Organoid COSM5355536 c.1353C>T p.A451A Substitution - coding silent 3:183492705-183492705 - TCGA-DA-A1HW-06 COSM3590524 c.1839G>A p.R613R Substitution - coding silent 3:183491954-183491954 - TCGA-FW-A3R5-06 COSM3915442 c.542C>T p.A181V Substitution - Missense 3:183508426-183508426 - tumor_4133263 COSM220695 c.167T>A p.L56* Substitution - Nonsense 3:183555487-183555487 - TCGA-18-3409-01 COSM729652 c.1292G>A p.G431D Substitution - Missense 3:183494137-183494137 - TCGA-AP-A051-01 COSM1041793 c.1742C>T p.P581L Substitution - Missense 3:183492051-183492051 - CSCC-20-T COSM4472409 c.1780C>T p.R594W Substitution - Missense 3:183492013-183492013 - tumor_4115001 COSM5947599 c.281G>A p.S94N Substitution - Missense 3:183555373-183555373 - CLL164 COSM1291663 c.219T>A p.D73E Substitution - Missense 3:183555435-183555435 - TCGA-AA-A010-01 COSM282288 c.917C>T p.S306L Substitution - Missense 3:183499820-183499820 - GHE0624 COSM5714421 c.40G>A p.D14N Substitution - Missense 3:183555614-183555614 - PT37 COSM5918147 c.335G>A p.R112K Substitution - Missense 3:183527969-183527969 - T578 COSM4696589 c.303C>A p.F101L Substitution - Missense 3:183528001-183528001 - TCGA-AR-A2LJ-01 COSM4815194 c.822G>A p.T274T Substitution - coding silent 3:183508146-183508146 - PD22251a COSM5790603 c.374C>T p.T125I Substitution - Missense 3:183527930-183527930 - 587376 COSM1212682 c.796C>A p.L266M Substitution - Missense 3:183508172-183508172 - 785-1836-01TD COSM5416617 c.293+5G>C p.? Unknown 3:183555356-183555356 - TCGA-FV-A4ZQ-01 COSM4922021 c.1599G>C p.P533P Substitution - coding silent 3:183492194-183492194 - TCGA-AA-3994-01 COSM298106 c.1717A>C p.I573L Substitution - Missense 3:183492076-183492076 - TCGA-BT-A2LB-01 COSM3330101 c.1618C>T p.L540L Substitution - coding silent 3:183492175-183492175 - KPOPBR-07-T COSM729650 c.691G>A p.E231K Substitution - Missense 3:183508277-183508277 - 8064575 COSM3392239 c.690C>T p.T230T Substitution - coding silent 3:183508278-183508278 - Pat_40_B COSM3330136 c.262G>A p.V88M Substitution - Missense 3:183555392-183555392 - TCGA-ER-A19F-06 COSM3590531 c.912C>T p.I304I Substitution - coding silent 3:183499825-183499825 - 003-0005-09TD COSM96839 c.145T>C p.F49L Substitution - Missense 3:183555509-183555509 - LAU63 COSM232640 c.1820C>T p.S607L Substitution - Missense 3:183491973-183491973 - GHE0605 COSM5714035 c.263T>A p.V88E Substitution - Missense 3:183555391-183555391 - TCGA-D1-A103-01 COSM1041792 c.1770C>T p.C590C Substitution - coding silent 3:183492023-183492023 - TCGA-AX-A0J1-01 COSM1041800 c.466C>T p.R156W Substitution - Missense 3:183508502-183508502 - TCGA-CJ-4643-01 COSM3365090 c.975C>A p.G325G Substitution - coding silent 3:183499762-183499762 - TCGA-D3-A3ML-06 COSM3590529 c.1145C>T p.S382L Substitution - Missense 3:183499592-183499592 - LIM2099 COSM4641203 c.1011G>A p.V337V Substitution - coding silent 3:183499726-183499726 - 594-01-1TD COSM5419492 c.268C>T p.L90F Substitution - Missense 3:183555386-183555386 - 462 COSM4436862 c.631C>G p.L211V Substitution - Missense 3:183508337-183508337 - TCGA-29-1695-01 COSM1327687 c.234G>A p.V78V Substitution - coding silent 3:183555420-183555420 - TCGA-G2-A2EO-01 COSM1308874 c.840C>T p.L280L Substitution - coding silent 3:183508128-183508128 - 2024537 COSM582735 c.1279G>T p.G427* Substitution - Nonsense 3:183494150-183494150 - TCGA-EK-A3GM-01 COSM4823225 c.1758G>A p.L586L Substitution - coding silent 3:183492035-183492035 - 27_tFL COSM4171225 c.268C>G p.L90V Substitution - Missense 3:183555386-183555386 - TCGA-A2-A0D2-01 COSM304219 c.821C>T p.T274M Substitution - Missense 3:183508147-183508147 - TCGA-AP-A059-01 COSM1041803 c.275C>T p.A92V Substitution - Missense 3:183555379-183555379 - TCGA-BS-A0UV-01 COSM1041796 c.1492T>C p.L498L Substitution - coding silent 3:183492566-183492566 - GHE0605 COSM5714034 c.266T>C p.V89A Substitution - Missense 3:183555388-183555388 - TCGA-FW-A3R5-06 COSM3915441 c.1849G>A p.G617R Substitution - Missense 3:183491944-183491944 - T55 COSM1308875 c.775G>A p.E259K Substitution - Missense 3:183508193-183508193 - TCGA-OL-A66J-01 COSM3846843 c.983C>T p.T328M Substitution - Missense 3:183499754-183499754 - 587222 COSM1212681 c.109G>T p.D37Y Substitution - Missense 3:183555545-183555545 - sysucc-1317T COSM3330114 c.1116C>T p.C372C Substitution - coding silent 3:183499621-183499621 - SNUH_G45_S1 COSM4002528 c.684C>T p.Y228Y Substitution - coding silent 3:183508284-183508284 - TCGA-BH-A1F6-01 COSM1484896 c.1698G>T p.R566R Substitution - coding silent 3:183492095-183492095 - sysucc-1370T COSM5471694 c.1232G>A p.R411H Substitution - Missense 3:183494197-183494197 - TCGA-CM-6171-01 COSM1421212 c.116T>C p.V39A Substitution - Missense 3:183555538-183555538 - pfg008T COSM4764060 c.896T>G p.L299R Substitution - Missense 3:183508072-183508072 - S02400 COSM5699884 c.315A>G p.L105L Substitution - coding silent 3:183527989-183527989 - 02-22991 COSM220696 c.191C>T p.T64I Substitution - Missense 3:183555463-183555463 - TCGA-AZ-6601-01 COSM1421208 c.1420G>A p.G474R Substitution - Missense 3:183492638-183492638 - 1115244 COSM5558835 c.565C>G p.L189V Substitution - Missense 3:183508403-183508403 - OSCC-GB_00460111 COSM3714412 c.835C>A p.P279T Substitution - Missense 3:183508133-183508133 - TCGA-EE-A3AA-06 COSM3590532 c.717G>A p.V239V Substitution - coding silent 3:183508251-183508251 - TCGA-B5-A0JY-01 COSM1041802 c.310G>T p.D104Y Substitution - Missense 3:183527994-183527994 - tumor_4190495 COSM1161452 c.1040G>A p.R347H Substitution - Missense 3:183499697-183499697 - TCGA-FS-A1ZK-06 COSM3590534 c.131G>A p.G44E Substitution - Missense 3:183555523-183555523 - PTC-54C COSM3927781 c.1390A>C p.T464P Substitution - Missense 3:183492668-183492668 - T1764 COSM4696588 c.1122A>T p.T374T Substitution - coding silent 3:183499615-183499615 - T3174 COSM1041805 c.154G>A p.A52T Substitution - Missense 3:183555500-183555500 - LP6007533-DNA_A01 COSM5033012 c.1214A>C p.E405A Substitution - Missense 3:183494215-183494215 - HT55 COSM3330099 c.1666T>A p.C556S Substitution - Missense 3:183492127-183492127 - 003-0005-10TD COSM96839 c.145T>C p.F49L Substitution - Missense 3:183555509-183555509 - CSCC-6-T COSM4572783 c.862T>G p.F288V Substitution - Missense 3:183508106-183508106 - CRC-1 COSM304219 c.821C>T p.T274M Substitution - Missense 3:183508147-183508147 - TCGA-CG-4476-01 COSM4115583 c.1232G>T p.R411L Substitution - Missense 3:183494197-183494197 - TCGA-GL-A59T-01 COSM3992888 c.709G>A p.E237K Substitution - Missense 3:183508259-183508259 - TCGA-23-1022-01 COSM75171 c.1556A>G p.Y519C Substitution - Missense 3:183492502-183492502 - TCGA-EE-A2GR-06 COSM3590525 c.1838G>A p.R613K Substitution - Missense 3:183491955-183491955 - PD11341a COSM224662 c.310G>A p.D104N Substitution - Missense 3:183527994-183527994 - TCGA-BR-4361-01 COSM4115582 c.1701C>T p.D567D Substitution - coding silent 3:183492092-183492092 - PT29 COSM5906498 c.460-1G>A p.? Unknown 3:183508509-183508509 - RK194_C01 COSM1633011 c.901G>C p.G301R Substitution - Missense 3:183508067-183508067 - TCGA-B0-5110-01 COSM479774 c.1305C>A p.I435I Substitution - coding silent 3:183494124-183494124 - TCGA-F5-6814-01 COSM3427373 c.1279G>A p.G427R Substitution - Missense 3:183494150-183494150 - TCGA-DD-A4NF-01 COSM4912662 c.977G>T p.G326V Substitution - Missense 3:183499760-183499760 - TCGA-EA-A1QT-01 COSM460843 c.25G>A p.A9T Substitution - Missense 3:183555629-183555629 - 12_tFL COSM4171224 c.553_554insT p.S185fs*24 Insertion - Frameshift 3:183508414-183508415 - SKCO-1 COSM3330141 c.221T>C p.V74A Substitution - Missense 3:183555433-183555433 - CLL164 COSM1291664 c.173T>C p.L58P Substitution - Missense 3:183555481-183555481 - 587226 COSM1212680 c.1693G>A p.G565R Substitution - Missense 3:183492100-183492100 - TCGA-D9-A6EC-06 COSM4402128 c.721A>G p.S241G Substitution - Missense 3:183508247-183508247 - CHC302T COSM251006 c.1015T>A p.C339S Substitution - Missense 3:183499722-183499722 - TCGA-AC-A23H-01 COSM1753036 c.955G>A p.E319K Substitution - Missense 3:183499782-183499782 - TCGA-AA-3672-01 COSM266794 c.885G>T p.R295S Substitution - Missense 3:183508083-183508083 - B22-Tumor COSM1753036 c.955G>A p.E319K Substitution - Missense 3:183499782-183499782 - HCC2998 COSM3330112 c.1156G>A p.E386K Substitution - Missense 3:183494273-183494273 - CSCC-27-T COSM4535541 c.21G>A p.R7R Substitution - coding silent 3:183555633-183555633 - TCGA-D1-A103-01 COSM1041795 c.1499C>T p.A500V Substitution - Missense 3:183492559-183492559 - tumor_4105746 COSM96840 c.194T>C p.L65P Substitution - Missense 3:183555460-183555460 - TCGA-66-2794-01 COSM729650 c.691G>A p.E231K Substitution - Missense 3:183508277-183508277 - TCGA-AZ-4315-01 COSM1421207 c.1804G>A p.V602I Substitution - Missense 3:183491989-183491989 - 2492702 COSM5716247 c.1639G>C p.E547Q Substitution - Missense 3:183492154-183492154 - TCGA-G2-A2EL-01 COSM1308873 c.1842C>T p.I614I Substitution - coding silent 3:183491951-183491951 - CHC1604T COSM4787847 c.1089G>T p.E363D Substitution - Missense 3:183499648-183499648 - T2944 COSM4321010 c.1794C>T p.H598H Substitution - coding silent 3:183491999-183491999 - 1517_CLM COSM5756223 c.1825A>G p.T609A Substitution - Missense 3:183491968-183491968 - PT49 COSM5934776 c.1781G>A p.R594Q Substitution - Missense 3:183492012-183492012 - 3206A7_017_T COSM5038928 c.1516G>T p.A506S Substitution - Missense 3:183492542-183492542 - TCGA-06-5859 COSM2153397 c.748C>T p.R250* Substitution - Nonsense 3:183508220-183508220 - TCGA-G4-6302-01 COSM3695934 c.420G>C p.Q140H Substitution - Missense 3:183527884-183527884 - 2492700 COSM5716247 c.1639G>C p.E547Q Substitution - Missense 3:183492154-183492154 - 185LT COSM3330138 c.253T>A p.C85S Substitution - Missense 3:183555401-183555401 - TCGA-BT-A3PK-01 COSM3774756 c.913A>T p.I305F Substitution - Missense 3:183499824-183499824 - CHC1704T COSM4804062 c.68C>A p.P23H Substitution - Missense 3:183555586-183555586 - PD7302a COSM1638358 c.334A>T p.R112W Substitution - Missense 3:183527970-183527970 - TCGA-BS-A0U7-01 COSM1041794 c.1564+2T>C p.? Unknown 3:183492492-183492492 - CLL135 COSM1291662 c.219T>C p.D73D Substitution - coding silent 3:183555435-183555435 - RK308_C01 COSM3767326 c.155C>T p.A52V Substitution - Missense 3:183555499-183555499 - TCGA-AZ-4315-01 COSM1421209 c.1202G>T p.W401L Substitution - Missense 3:183494227-183494227 - TCGA-46-6026-01 COSM729653 c.1692C>T p.G564G Substitution - coding silent 3:183492101-183492101 - C125 COSM729652 c.1292G>A p.G431D Substitution - Missense 3:183494137-183494137 - TCGA-BR-7703-01 COSM4115590 c.208G>A p.A70T Substitution - Missense 3:183555446-183555446 - 10_tFL COSM4171226 c.220G>A p.V74I Substitution - Missense 3:183555434-183555434 - tumor_4198542 COSM96840 c.194T>C p.L65P Substitution - Missense 3:183555460-183555460 - 06-16716 COSM220694 c.191C>G p.T64S Substitution - Missense 3:183555463-183555463 - TCGA-EE-A181-06 COSM3590530 c.1059C>T p.L353L Substitution - coding silent 3:183499678-183499678 - RK022_C01 COSM1633012 c.567A>T p.L189L Substitution - coding silent 3:183508401-183508401 - GC8_T COSM149524 c.543T>C p.A181A Substitution - coding silent 3:183508425-183508425 - TCGA-AM-5820-01 COSM3759881 c.1311T>C p.N437N Substitution - coding silent 3:183494118-183494118 - 185LT COSM4383174 c.246A>T p.E82D Substitution - Missense 3:183555408-183555408 - LUAD-B02594 COSM336720 c.1358C>A p.P453H Substitution - Missense 3:183492700-183492700 - C0053T COSM4153030 c.141C>A p.V47V Substitution - coding silent 3:183555513-183555513 - sysucc-783T COSM5484609 c.1751A>G p.Q584R Substitution - Missense 3:183492042-183492042 - TCGA-AP-A0LM-01 COSM1041797 c.1324G>A p.D442N Substitution - Missense 3:183494105-183494105 - TCGA-A3-3363-01 COSM1495472 c.732G>A p.R244R Substitution - coding silent 3:183508236-183508236 - 7_tFL COSM4171223 c.935G>A p.R312K Substitution - Missense 3:183499802-183499802 - TCGA-AP-A0LM-01 COSM282288 c.917C>T p.S306L Substitution - Missense 3:183499820-183499820 - TCGA-EE-A2GC-06 COSM3590526 c.1554C>T p.I518I Substitution - coding silent 3:183492504-183492504 - 1353-01-01TD COSM5416617 c.293+5G>C p.? Unknown 3:183555356-183555356 - TCGA-CC-A7II-01 COSM4937618 c.1419C>A p.I473I Substitution - coding silent 3:183492639-183492639 - T3479 COSM1041804 c.197G>A p.R66Q Substitution - Missense 3:183555457-183555457 - CSCC-19-T COSM4532402 c.187G>A p.E63K Substitution - Missense 3:183555467-183555467 - SC_9047 COSM5562588 c.1509C>T p.P503P Substitution - coding silent 3:183492549-183492549 - CSCC-56-T COSM4519653 c.1021G>A p.D341N Substitution - Missense 3:183499716-183499716 - TCGA-CA-6717-01 COSM1421210 c.1143C>A p.I381I Substitution - coding silent 3:183499594-183499594 - B22 COSM1753036 c.955G>A p.E319K Substitution - Missense 3:183499782-183499782 - BL4 COSM1161452 c.1040G>A p.R347H Substitution - Missense 3:183499697-183499697 - TCGA-EE-A182-06 COSM3590533 c.391T>A p.Y131N Substitution - Missense 3:183527913-183527913 - 61 COSM5736840 c.791C>T p.P264L Substitution - Missense 3:183508177-183508177 - A5 COSM5350939 c.1689C>T p.T563T Substitution - coding silent 3:183492104-183492104 - 1353-01-01TD COSM4171225 c.268C>G p.L90V Substitution - Missense 3:183555386-183555386 - PD8610a COSM5789165 c.1779C>T p.P593P Substitution - coding silent 3:183492014-183492014 - SC_9060 COSM5549412 c.880G>A p.A294T Substitution - Missense 3:183508088-183508088 - 1604875 COSM141068 c.1001T>G p.V334G Substitution - Missense 3:183499736-183499736 - 96-20883 COSM220697 c.193C>G p.L65V Substitution - Missense 3:183555461-183555461 - 177T COSM1726162 c.431G>A p.R144Q Substitution - Missense 3:183527873-183527873 - FR-CLL_2 COSM96840 c.194T>C p.L65P Substitution - Missense 3:183555460-183555460 - RKO COSM3330136 c.262G>A p.V88M Substitution - Missense 3:183555392-183555392 - TCGA-EE-A20F-06 COSM3590528 c.1404G>A p.K468K Substitution - coding silent 3:183492654-183492654 - L363 COSM1236066 c.428A>G p.Q143R Substitution - Missense 3:183527876-183527876 - TCGA-BH-A0E9-01 COSM446054 c.1848C>T p.P616P Substitution - coding silent 3:183491945-183491945 - CSCC-6-T COSM4477522 c.215C>T p.T72I Substitution - Missense 3:183555439-183555439 - CLL164 COSM220694 c.191C>G p.T64S Substitution - Missense 3:183555463-183555463 - CHOL12 COSM1743665 c.1564+1G>T p.? Unknown 3:183492493-183492493 - TCGA-B9-A5W9-01 COSM3992887 c.1010T>G p.V337G Substitution - Missense 3:183499727-183499727 - CSCC-7-T COSM4544168 c.350G>A p.G117E Substitution - Missense 3:183527954-183527954 - ESO-224 COSM1256002 c.1218T>C p.Y406Y Substitution - coding silent 3:183494211-183494211 - TCGA-HC-7749-01 COSM1471547 c.293G>C p.R98T Substitution - Missense 3:183555361-183555361 - TCGA-CM-6162-01 COSM1421211 c.994C>T p.R332W Substitution - Missense 3:183499743-183499743 - HCC2998 COSM3330125 c.598A>G p.N200D Substitution - Missense 3:183508370-183508370 - I2L-P19Tb-Tumor-Organoid COSM5355309 c.1034G>A p.R345H Substitution - Missense 3:183499703-183499703 - B87 COSM1537299 c.951G>T p.Q317H Substitution - Missense 3:183499786-183499786 - GC8_T COSM149523 c.570G>A p.K190K Substitution - coding silent 3:183508398-183508398 - TCGA-CF-A1HR-01 COSM419690 c.1069G>C p.E357Q Substitution - Missense 3:183499668-183499668 - TCGA-A5-A0GP-01 COSM1041799 c.600C>T p.N200N Substitution - coding silent 3:183508368-183508368 - RK119_C01 COSM3767325 c.1691G>A p.G564D Substitution - Missense 3:183492102-183492102 - 003-0005-10TD COSM96840 c.194T>C p.L65P Substitution - Missense 3:183555460-183555460 - 02-22991 COSM220695 c.167T>A p.L56* Substitution - Nonsense 3:183555487-183555487 - TCGA-CG-5721-01 COSM4115584 c.855A>G p.P285P Substitution - coding silent 3:183508113-183508113 - TCGA-25-2391-01 COSM133473 c.1051_1052GC>TT p.A351F Substitution - Missense 3:183499685-183499686 - TCGA-B7-5816-01 COSM4115586 c.525T>C p.V175V Substitution - coding silent 3:183508443-183508443 - I2L-P19Tb-Tumor-Biopsy COSM5355309 c.1034G>A p.R345H Substitution - Missense 3:183499703-183499703 - tumor_4133263 COSM5947911 c.1839_1855del17 p.R613fs*>4 Deletion - Frameshift 3:183491938-183491954 - TCGA-AM-5820-01 COSM3759882 c.1191G>A p.S397S Substitution - coding silent 3:183494238-183494238 - TCGA-BR-8361-01 COSM4115589 c.212T>C p.L71P Substitution - Missense 3:183555442-183555442 - TCGA-EE-A3AE-06 COSM3590524 c.1839G>A p.R613R Substitution - coding silent 3:183491954-183491954 - LUAD-RT-S01777 COSM382315 c.1422G>T p.G474G Substitution - coding silent 3:183492636-183492636 - CHC1604T COSM4787847 c.1089G>T p.E363D Substitution - Missense 3:183499648-183499648 - S01023 COSM5666645 c.725G>T p.W242L Substitution - Missense 3:183508243-183508243 - TCGA-DK-A3IS-01 COSM1308876 c.291C>A p.F97L Substitution - Missense 3:183555363-183555363 - TCGA-F5-6814-01 COSM3427372 c.1454A>C p.K485T Substitution - Missense 3:183492604-183492604 - TCGA-BR-8680-01 COSM1041804 c.197G>A p.R66Q Substitution - Missense 3:183555457-183555457 - ZZUFHECRKL-G045T COSM729650 c.691G>A p.E231K Substitution - Missense 3:183508277-183508277 - TCGA-EE-A3JA-06 COSM282288 c.917C>T p.S306L Substitution - Missense 3:183499820-183499820 - TCGA-AP-A056-01 COSM1041804 c.197G>A p.R66Q Substitution - Missense 3:183555457-183555457 - TCGA-HU-A4H4-01 COSM4115587 c.432G>T p.R144R Substitution - coding silent 3:183527872-183527872 - tumor_4105746 COSM5946401 c.140T>G p.V47G Substitution - Missense 3:183555514-183555514 - HCC22 COSM3660368 c.463C>T p.L155L Substitution - coding silent 3:183508505-183508505 - YUROG COSM5398720 c.1202G>A p.W401* Substitution - Nonsense 3:183494227-183494227 - LUAD-D01603 COSM337847 c.792G>T p.P264P Substitution - coding silent 3:183508176-183508176 - CCK81 COSM3330116 c.922C>T p.R308C Substitution - Missense 3:183499815-183499815 - 10_tFL COSM4171222 c.1627C>T p.Q543* Substitution - Nonsense 3:183492166-183492166 - TCGA-AM-5820-01 COSM3695935 c.150C>T p.D50D Substitution - coding silent 3:183555504-183555504 - 46T COSM3714412 c.835C>A p.P279T Substitution - Missense 3:183508133-183508133 - STC297 COSM5059524 c.1281A>G p.G427G Substitution - coding silent 3:183494148-183494148 - PD3188a COSM1658914 c.1744G>A p.E582K Substitution - Missense 3:183492049-183492049 - CHC302T COSM251006 c.1015T>A p.C339S Substitution - Missense 3:183499722-183499722 - LP6005409-DNA_A01 COSM5951990 c.211C>G p.L71V Substitution - Missense 3:183555443-183555443 - TCGA-AX-A0J0-01 COSM1041798 c.1190C>T p.S397L Substitution - Missense 3:183494239-183494239 - 390 COSM4427844 c.700C>T p.Q234* Substitution - Nonsense 3:183508268-183508268 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.659144;Hs.659146;Hs.659147 3q27.3 614214

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.910-2651T>G 3 183220266 CLL A G Missense p.F49L c.145T>C 3 183273297 CLL A G Missense p.L58P c.173T>C 3 183273269 CLL A G Synonymous p.D73D c.219T>C 3 183273223 CLL A G Synonymous p.V175V c.525T>C 3 183226231 STAD A G Synonymous p.Y406Y c.1218T>C 3 183211999 ESCA A T Missense p.D73E c.219T>A 3 183273223 CLL A T Missense p.Y131N c.391T>A 3 183245701 CM C A IntronicSNV . c.459+4735G>T 3 183240898 HC C A Missense p.R282M c.845G>T 3 183225911 LUAD C A Missense p.R411L c.1232G>T 3 183211985 STAD C A Nonsense p.E307* c.919G>T 3 183217606 LUAD C A Synonymous p.R566R c.1698G>T 3 183209883 BRCA C G Missense p.E357Q c.1069G>C 3 183217456 BLCA C G Missense p.R98T c.293G>C 3 183273149 PRAD C T 3-UTRSNV . c.1863+3422G>A 3 183206296 ALL C T Missense p.D29N c.85G>A 3 183273357 MM C T Missense p.D516N c.1546G>A 3 183210300 CM C T Missense p.E231K c.691G>A 3 183226065 LUSC C T Missense p.E259K c.775G>A 3 183225981 BLCA C T Missense p.G44E c.131G>A 3 183273311 CM C T Missense p.G564S c.1690G>A 3 183209891 HNSC C T Missense p.R347H c.1040G>A 3 183217485 DLBCL C T Missense p.R613K c.1838G>A 3 183209743 CM C T Synonymous p.K468K c.1404G>A 3 183210442 CM C T Synonymous p.Q388Q c.1164G>A 3 183212053 CM C T Synonymous p.Q584Q c.1752G>A 3 183209829 CM C T Synonymous p.R613R c.1839G>A 3 183209742 CM C T Synonymous p.T575T c.1725G>A 3 183209856 HNSC C T Synonymous p.V239V c.717G>A 3 183226039 CM G A IntronicSNV . c.1351-436C>T 3 183210931 PAAD G A IntronicSNV . c.293+3251C>T 3 183269898 HC G A IntronicSNV . c.459+4736C>T 3 183240897 HC G A IntronicSNV . c.459+5361C>T 3 183240272 MB G A Missense p.P503S c.1507C>T 3 183210339 HNSC G A Missense p.S306L c.917C>T 3 183217608 BRCA G A Missense p.S306L c.917C>T 3 183217608 CM G A Missense p.S382L c.1145C>T 3 183217380 CM G A Missense p.T274M c.821C>T 3 183225935 BRCA G A Missense p.T64I c.191C>T 3 183273251 CM G A Nonsense p.R250* c.748C>T 3 183226008 GBM G A Synonymous p.G564G c.1692C>T 3 183209889 LUSC G A Synonymous p.I304I c.912C>T 3 183217613 CM G A Synonymous p.I518I c.1554C>T 3 183210292 CM G A Synonymous p.I573I c.1719C>T 3 183209862 CM G A Synonymous p.I614I c.1842C>T 3 183209739 BLCA G A Synonymous p.L280L c.840C>T 3 183225916 BLCA G A Synonymous p.L540L c.1618C>T 3 183209963 BLCA G A Synonymous p.N200N c.600C>T 3 183226156 UCEC G A Synonymous p.N260N c.780C>T 3 183225976 HNSC G A Synonymous p.P616P c.1848C>T 3 183209733 BRCA G A Synonymous p.Y441Y c.1323C>T 3 183211894 CM GC AA Missense p.A351F c.1051_1052delinsTT 3 183217473 OV G C Missense p.A554G c.1661C>G 3 183209920 LUAD G C Missense p.T64S c.191C>G 3 183273251 CLL GG AA Missense p.L227F c.678_679delinsTT 3 183226077 CM G T Missense p.F97L c.291C>A 3 183273151 BLCA G T Missense p.L155M c.463C>A 3 183226293 LUAD G T Nonsense p.C339* c.1017C>A 3 183217508 NB G T Synonymous p.A91A c.273C>A 3 183273169 LUAD G T Synonymous p.G325G c.975C>A 3 183217550 RCCC G T Synonymous p.I41I c.123C>A 3 183273319 LUAD G T Synonymous p.I435I c.1305C>A 3 183211912 RCCC T A Missense p.I305F c.913A>T 3 183217612 BLCA T A Missense p.R434S c.1302A>T 3 183211915 LUAD T A Synonymous p.L189L c.567A>T 3 183226189 HC T C Missense p.E349G c.1046A>G 3 183217479 LUAD T C Missense p.Y519C c.1556A>G 3 183210290 OV T G Missense p.I573L c.1717A>C 3 183209864 COREAD