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 21 43864737 43864737 + Missense_Mutation SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr21:43864737C>T c.1832C>T c.(1831-1833)gCc>gTc p.A611V BLCA 21 43829601 43829601 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 g.chr21:43829601C>T c.238C>T c.(238-240)Cca>Tca p.P80S BLCA 21 43833142 43833142 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr21:43833142C>G c.364C>G c.(364-366)Cag>Gag p.Q122E BLCA 21 43833209 43833209 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 g.chr21:43833209C>T c.431C>T c.(430-432)aCg>aTg p.T144M BLCA 21 43833287 43833287 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr21:43833287G>A c.509G>A c.(508-510)cGg>cAg p.R170Q BLCA 21 43836631 43836631 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 g.chr21:43836631G>C c.748G>C c.(748-750)Gag>Cag p.E250Q BLCA 21 43838515 43838515 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 g.chr21:43838515G>A c.843G>A c.(841-843)ctG>ctA p.L281L BLCA 21 43838679 43838679 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 g.chr21:43838679C>T c.1007C>T c.(1006-1008)aCg>aTg p.T336M BLCA 21 43852229 43852229 + Missense_Mutation SNP G G C TCGA-BL-A5ZZ-01A-31D-A30E-08 TCGA-BL-A5ZZ-10A-01D-A30H-08 g.chr21:43852229G>C c.1188G>C c.(1186-1188)aaG>aaC p.K396N BLCA 21 43854960 43854960 + Missense_Mutation SNP A A T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 g.chr21:43854960A>T c.1289A>T c.(1288-1290)gAc>gTc p.D430V BLCA 21 43867194 43867194 + Nonsense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 g.chr21:43867194G>T c.1876G>T c.(1876-1878)Gaa>Taa p.E626* BLCA 21 43867218 43867218 + Missense_Mutation SNP T T C TCGA-UY-A9PD-01A-11D-A38G-08 TCGA-UY-A9PD-10A-01D-A38J-08 g.chr21:43867218T>C c.1900T>C c.(1900-1902)Tgg>Cgg p.W634R BLCA 21 43867289 43867289 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr21:43867289G>C c.1971G>C c.(1969-1971)tgG>tgC p.W657C BLCA 21 43867303 43867303 + Nonstop_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr21:43867303G>T c.1985G>T c.(1984-1986)tGa>tTa p.*662L BRCA 21 43833311 43833311 + Missense_Mutation SNP C C T TCGA-A8-A086-01A-11W-A019-09 TCGA-A8-A086-10A-01W-A021-09 g.chr21:43833311C>T c.533C>T c.(532-534)aCg>aTg p.T178M BRCA 21 43862566 43862566 + Silent SNP C C G TCGA-A8-A095-01A-11W-A019-09 TCGA-A8-A095-10A-01W-A021-09 g.chr21:43862566C>G c.1491C>G c.(1489-1491)ctC>ctG p.L497L BRCA 21 43862645 43862645 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr21:43862645C>T c.1570C>T c.(1570-1572)Cca>Tca p.P524S BRCA 21 43862675 43862675 + Missense_Mutation SNP G G C TCGA-GM-A2D9-01A-11D-A18P-09 TCGA-GM-A2D9-11A-42D-A18P-09 g.chr21:43862675G>C c.1600G>C c.(1600-1602)Gag>Cag p.E534Q CESC 21 43867194 43867194 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 g.chr21:43867194G>A c.1876G>A c.(1876-1878)Gaa>Aaa p.E626K CHOL 21 43857670 43857670 + Missense_Mutation SNP C C T TCGA-W5-AA2T-01A-12D-A417-09 TCGA-W5-AA2T-10A-01D-A41A-09 g.chr21:43857670C>T c.1466C>T c.(1465-1467)aCg>aTg p.T489M COAD 21 43824115 43824115 + Missense_Mutation SNP A A G TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr21:43824115A>G c.61A>G c.(61-63)Agc>Ggc p.S21G COAD 21 43824163 43824163 + Missense_Mutation SNP A A G TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr21:43824163A>G c.109A>G c.(109-111)Acc>Gcc p.T37A COAD 21 43826451 43826451 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr21:43826451G>A c.148G>A c.(148-150)Gcg>Acg p.A50T COAD 21 43829573 43829573 + Frame_Shift_Del DEL C C - TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr21:43829573delC c.210delC c.(208-210)atcfs p.I70fs COAD 21 43833319 43833320 + Frame_Shift_Del DEL TC TC - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr21:43833319_43833320delTC c.541_542delTC c.(541-543)tctfs p.S181fs COAD 21 43838596 43838596 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr21:43838596G>A c.924G>A c.(922-924)acG>acA p.T308T COAD 21 43846919 43846919 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr21:43846919A>C c.1160A>C c.(1159-1161)cAg>cCg p.Q387P COAD 21 43855044 43855044 + Frame_Shift_Del DEL T T - TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr21:43855044delT c.1373delT c.(1372-1374)attfs p.I458fs COAD 21 43857627 43857627 + Missense_Mutation SNP A A G TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr21:43857627A>G c.1423A>G c.(1423-1425)Atc>Gtc p.I475V COAD 21 43862591 43862591 + Nonsense_Mutation SNP C C T TCGA-AA-A00D-01A-01W-A005-10 TCGA-AA-A00D-10A-01W-A005-10 g.chr21:43862591C>T c.1516C>T c.(1516-1518)Cga>Tga p.R506* COAD 21 43863427 43863427 + Missense_Mutation SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr21:43863427C>T c.1637C>T c.(1636-1638)gCg>gTg p.A546V COAD 21 43863428 43863428 + Silent SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr21:43863428G>A c.1638G>A c.(1636-1638)gcG>gcA p.A546A COAD 21 43863452 43863452 + Silent SNP G G A TCGA-AA-3956-01A-02W-0995-10 TCGA-AA-3956-10A-01W-0995-10 g.chr21:43863452G>A c.1662G>A c.(1660-1662)ccG>ccA p.P554P COAD 21 43867230 43867230 + Missense_Mutation SNP A A G TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr21:43867230A>G c.1912A>G c.(1912-1914)Aac>Gac p.N638D COAD 21 43867292 43867292 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr21:43867292C>A c.1974C>A c.(1972-1974)atC>atA p.I658I COADREAD 21 43824115 43824115 + Missense_Mutation SNP A A G TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr21:43824115A>G c.61A>G c.(61-63)Agc>Ggc p.S21G COADREAD 21 43824163 43824163 + Missense_Mutation SNP A A G TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr21:43824163A>G c.109A>G c.(109-111)Acc>Gcc p.T37A COADREAD 21 43826451 43826451 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr21:43826451G>A c.148G>A c.(148-150)Gcg>Acg p.A50T COADREAD 21 43829573 43829573 + Frame_Shift_Del DEL C C - TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr21:43829573delC c.210delC c.(208-210)atcfs p.I70fs COADREAD 21 43833319 43833320 + Frame_Shift_Del DEL TC TC - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr21:43833319_43833320delTC c.541_542delTC c.(541-543)tctfs p.S181fs COADREAD 21 43836697 43836697 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:43836697G>T c.814G>T c.(814-816)Gac>Tac p.D272Y COADREAD 21 43838596 43838596 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr21:43838596G>A c.924G>A c.(922-924)acG>acA p.T308T COADREAD 21 43838606 43838606 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr21:43838606G>A c.934G>A c.(934-936)Gaa>Aaa p.E312K COADREAD 21 43846919 43846919 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr21:43846919A>C c.1160A>C c.(1159-1161)cAg>cCg p.Q387P COADREAD 21 43855044 43855044 + Frame_Shift_Del DEL T T - TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr21:43855044delT c.1373delT c.(1372-1374)attfs p.I458fs COADREAD 21 43857627 43857627 + Missense_Mutation SNP A A G TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr21:43857627A>G c.1423A>G c.(1423-1425)Atc>Gtc p.I475V COADREAD 21 43862591 43862591 + Nonsense_Mutation SNP C C T TCGA-AA-A00D-01A-01W-A005-10 TCGA-AA-A00D-10A-01W-A005-10 g.chr21:43862591C>T c.1516C>T c.(1516-1518)Cga>Tga p.R506* COADREAD 21 43863427 43863427 + Missense_Mutation SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr21:43863427C>T c.1637C>T c.(1636-1638)gCg>gTg p.A546V COADREAD 21 43863428 43863428 + Silent SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr21:43863428G>A c.1638G>A c.(1636-1638)gcG>gcA p.A546A COADREAD 21 43863452 43863452 + Silent SNP G G A TCGA-AA-3956-01A-02W-0995-10 TCGA-AA-3956-10A-01W-0995-10 g.chr21:43863452G>A c.1662G>A c.(1660-1662)ccG>ccA p.P554P COADREAD 21 43864744 43864744 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:43864744C>T c.1839C>T c.(1837-1839)ctC>ctT p.L613L COADREAD 21 43867230 43867230 + Missense_Mutation SNP A A G TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr21:43867230A>G c.1912A>G c.(1912-1914)Aac>Gac p.N638D COADREAD 21 43867292 43867292 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr21:43867292C>A c.1974C>A c.(1972-1974)atC>atA p.I658I DLBC 21 43826425 43826436 + In_Frame_Del DEL CGTTGGCAGCCA CGTTGGCAGCCA - TCGA-FA-A7DS-01A-11D-A382-10 TCGA-FA-A7DS-10A-01D-A385-10 g.chr21:43826425_43826436delCGTTGGCAGCCA c.122_133delCGTTGGCAGCCA c.(121-135)gcgttggcagccacg>gcg p.LAAT42del ESCA 21 43829716 43829716 + Splice_Site SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 g.chr21:43829716C>T c.353C>T c.(352-354)aCg>aTg p.T118M ESCA 21 43852260 43852260 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 g.chr21:43852260G>T c.1219G>T c.(1219-1221)Gtg>Ttg p.V407L GBM 21 43846877 43846877 + Missense_Mutation SNP G G A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 g.chr21:43846877G>A c.1118G>A c.(1117-1119)gGg>gAg p.G373E GBM 21 43867265 43867265 + Silent SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 g.chr21:43867265C>T c.1947C>T c.(1945-1947)aaC>aaT p.N649N GBMLGG 21 43829594 43829594 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:43829594C>A c.231C>A c.(229-231)ttC>ttA p.F77L GBMLGG 21 43829702 43829702 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:43829702C>T c.339C>T c.(337-339)ctC>ctT p.L113L GBMLGG 21 43833168 43833168 + Silent SNP G G A TCGA-DB-A64V-01A-11D-A29Q-08 TCGA-DB-A64V-10A-01D-A29Q-08 g.chr21:43833168G>A c.390G>A c.(388-390)gcG>gcA p.A130A GBMLGG 21 43838610 43838610 + Missense_Mutation SNP C C A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 g.chr21:43838610C>A c.938C>A c.(937-939)gCc>gAc p.A313D GBMLGG 21 43846877 43846877 + Missense_Mutation SNP G G A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 g.chr21:43846877G>A c.1118G>A c.(1117-1119)gGg>gAg p.G373E GBMLGG 21 43857619 43857619 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:43857619G>T c.1415G>T c.(1414-1416)gGt>gTt p.G472V GBMLGG 21 43867265 43867265 + Silent SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 g.chr21:43867265C>T c.1947C>T c.(1945-1947)aaC>aaT p.N649N HNSC 21 43833586 43833586 + Silent SNP C C T TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr21:43833586C>T c.621C>T c.(619-621)agC>agT p.S207S HNSC 21 43852254 43852254 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr21:43852254G>A c.1213G>A c.(1213-1215)Gag>Aag p.E405K HNSC 21 43857620 43857620 + Silent SNP T T C TCGA-T2-A6WZ-01A-21D-A34J-08 TCGA-T2-A6WZ-10B-01D-A34M-08 g.chr21:43857620T>C c.1416T>C c.(1414-1416)ggT>ggC p.G472G HNSC 21 43862566 43862566 + Silent SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 g.chr21:43862566C>G c.1491C>G c.(1489-1491)ctC>ctG p.L497L KIPAN 21 43867186 43867186 + Frame_Shift_Del DEL G G - TCGA-DV-5565-01A-01D-1534-10 TCGA-DV-5565-10A-01D-1535-10 g.chr21:43867186delG c.1868delG c.(1867-1869)tgcfs p.C623fs KIRC 21 43867186 43867186 + Frame_Shift_Del DEL G G - TCGA-DV-5565-01A-01D-1534-10 TCGA-DV-5565-10A-01D-1535-10 g.chr21:43867186delG c.1868delG c.(1867-1869)tgcfs p.C623fs LGG 21 43829594 43829594 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:43829594C>A c.231C>A c.(229-231)ttC>ttA p.F77L LGG 21 43829702 43829702 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:43829702C>T c.339C>T c.(337-339)ctC>ctT p.L113L LGG 21 43833168 43833168 + Silent SNP G G A TCGA-DB-A64V-01A-11D-A29Q-08 TCGA-DB-A64V-10A-01D-A29Q-08 g.chr21:43833168G>A c.390G>A c.(388-390)gcG>gcA p.A130A LGG 21 43838610 43838610 + Missense_Mutation SNP C C A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 g.chr21:43838610C>A c.938C>A c.(937-939)gCc>gAc p.A313D LGG 21 43857619 43857619 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:43857619G>T c.1415G>T c.(1414-1416)gGt>gTt p.G472V LIHC 21 43829672 43829672 + Silent SNP A A G TCGA-CC-A3MB-01A-11D-A20W-10 TCGA-CC-A3MB-10A-01D-A20W-10 g.chr21:43829672A>G c.309A>G c.(307-309)agA>agG p.R103R LUAD 21 43833217 43833217 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr21:43833217C>A c.439C>A c.(439-441)Cct>Act p.P147T LUAD 21 43833560 43833560 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr21:43833560G>T c.595G>T c.(595-597)Gga>Tga p.G199* LUAD 21 43833623 43833623 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr21:43833623C>T c.658C>T c.(658-660)Ctt>Ttt p.L220F LUAD 21 43838595 43838595 + Missense_Mutation SNP C C T TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr21:43838595C>T c.923C>T c.(922-924)aCg>aTg p.T308M LUAD 21 43838679 43838679 + Missense_Mutation SNP C C A TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr21:43838679C>A c.1007C>A c.(1006-1008)aCg>aAg p.T336K LUAD 21 43838704 43838704 + Silent SNP G G T TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr21:43838704G>T c.1032G>T c.(1030-1032)acG>acT p.T344T LUAD 21 43854980 43854980 + Missense_Mutation SNP C C A TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr21:43854980C>A c.1309C>A c.(1309-1311)Ctg>Atg p.L437M LUAD 21 43857596 43857596 + Splice_Site SNP A A T TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chr21:43857596A>T c.e11-1 LUAD 21 43857644 43857644 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr21:43857644C>T c.1440C>T c.(1438-1440)gcC>gcT p.A480A LUAD 21 43862660 43862660 + Missense_Mutation SNP C C A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr21:43862660C>A c.1585C>A c.(1585-1587)Ctg>Atg p.L529M LUAD 21 43863428 43863428 + Silent SNP G G T TCGA-86-8279-01A-11D-2284-08 TCGA-86-8279-10A-01D-2284-08 g.chr21:43863428G>T c.1638G>T c.(1636-1638)gcG>gcT p.A546A LUAD 21 43863444 43863444 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chr21:43863444C>A c.1654C>A c.(1654-1656)Ctc>Atc p.L552I LUSC 21 43867227 43867227 + Missense_Mutation SNP G G C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr21:43867227G>C c.1909G>C c.(1909-1911)Gtg>Ctg p.V637L OV 21 43838668 43838668 + Silent SNP G G A TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 g.chr21:43838668G>A c.996G>A c.(994-996)ccG>ccA p.P332P OV 21 43863427 43863427 + Missense_Mutation SNP C C T TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 g.chr21:43863427C>T c.1637C>T c.(1636-1638)gCg>gTg p.A546V OV 21 43867232 43867232 + Missense_Mutation SNP C C G TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 g.chr21:43867232C>G c.1914C>G c.(1912-1914)aaC>aaG p.N638K PAAD 21 43846890 43846890 + Silent SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:43846890A>G c.1131A>G c.(1129-1131)ccA>ccG p.P377P PRAD 21 43829625 43829625 + Missense_Mutation SNP C C T TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 g.chr21:43829625C>T c.262C>T c.(262-264)Ctt>Ttt p.L88F PRAD 21 43829693 43829693 + Silent SNP C C T TCGA-XK-AAK1-01A-11D-A41K-08 TCGA-XK-AAK1-10A-01D-A41N-08 g.chr21:43829693C>T c.330C>T c.(328-330)caC>caT p.H110H PRAD 21 43838616 43838616 + Missense_Mutation SNP A A T TCGA-EJ-A7NJ-01A-22D-A34U-08 TCGA-EJ-A7NJ-10A-01D-A34X-08 g.chr21:43838616A>T c.944A>T c.(943-945)gAg>gTg p.E315V READ 21 43836697 43836697 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:43836697G>T c.814G>T c.(814-816)Gac>Tac p.D272Y READ 21 43838606 43838606 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr21:43838606G>A c.934G>A c.(934-936)Gaa>Aaa p.E312K READ 21 43864744 43864744 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:43864744C>T c.1839C>T c.(1837-1839)ctC>ctT p.L613L SARC 21 43833596 43833596 + Missense_Mutation SNP A A G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 g.chr21:43833596A>G c.631A>G c.(631-633)Aga>Gga p.R211G SKCM 21 43829558 43829558 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr21:43829558C>T c.195C>T c.(193-195)tcC>tcT p.S65S SKCM 21 43833206 43833206 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr21:43833206C>T c.428C>T c.(427-429)cCc>cTc p.P143L SKCM 21 43833207 43833207 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr21:43833207C>T c.429C>T c.(427-429)ccC>ccT p.P143P SKCM 21 43833249 43833249 + Silent SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr21:43833249C>T c.471C>T c.(469-471)ctC>ctT p.L157L SKCM 21 43833312 43833312 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr21:43833312G>A c.534G>A c.(532-534)acG>acA p.T178T SKCM 21 43833575 43833575 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr21:43833575C>T c.610C>T c.(610-612)Ctg>Ttg p.L204L SKCM 21 43833612 43833612 + Missense_Mutation SNP G G A TCGA-EE-A2GH-06A-11D-A196-08 TCGA-EE-A2GH-10A-01D-A198-08 g.chr21:43833612G>A c.647G>A c.(646-648)aGc>aAc p.S216N SKCM 21 43838513 43838513 + Silent SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr21:43838513C>T c.841C>T c.(841-843)Ctg>Ttg p.L281L SKCM 21 43838527 43838527 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr21:43838527C>T c.855C>T c.(853-855)ttC>ttT p.F285F SKCM 21 43838632 43838632 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr21:43838632G>A c.960G>A c.(958-960)ggG>ggA p.G320G SKCM 21 43838637 43838637 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr21:43838637C>T c.965C>T c.(964-966)tCa>tTa p.S322L SKCM 21 43838655 43838655 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr21:43838655G>A c.983G>A c.(982-984)cGg>cAg p.R328Q SKCM 21 43838656 43838656 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr21:43838656G>A c.984G>A c.(982-984)cgG>cgA p.R328R SKCM 21 43838665 43838665 + Silent SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr21:43838665G>A c.993G>A c.(991-993)ctG>ctA p.L331L SKCM 21 43852251 43852251 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr21:43852251G>A c.1210G>A c.(1210-1212)Ggg>Agg p.G404R SKCM 21 43852252 43852252 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr21:43852252G>A c.1211G>A c.(1210-1212)gGg>gAg p.G404E SKCM 21 43855000 43855000 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr21:43855000G>A c.1329G>A c.(1327-1329)ggG>ggA p.G443G SKCM 21 43855019 43855019 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 g.chr21:43855019G>A c.1348G>A c.(1348-1350)Gat>Aat p.D450N SKCM 21 43862570 43862570 + Missense_Mutation SNP C C A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr21:43862570C>A c.1495C>A c.(1495-1497)Ctg>Atg p.L499M SKCM 21 43862599 43862599 + Silent SNP A A G TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 g.chr21:43862599A>G c.1524A>G c.(1522-1524)gaA>gaG p.E508E SKCM 21 43862610 43862610 + Missense_Mutation SNP T T G TCGA-FS-A4FB-06A-11D-A25O-08 TCGA-FS-A4FB-10B-01D-A25O-08 g.chr21:43862610T>G c.1535T>G c.(1534-1536)tTt>tGt p.F512C SKCM 21 43863433 43863433 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr21:43863433C>T c.1643C>T c.(1642-1644)cCc>cTc p.P548L SKCM 21 43863490 43863490 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr21:43863490C>T c.1700C>T c.(1699-1701)gCg>gTg p.A567V SKCM 21 43864686 43864686 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr21:43864686C>T c.1781C>T c.(1780-1782)tCc>tTc p.S594F SKCM 21 43864730 43864730 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 g.chr21:43864730G>A c.1825G>A c.(1825-1827)Gat>Aat p.D609N SKCM 21 43864744 43864744 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr21:43864744C>T c.1839C>T c.(1837-1839)ctC>ctT p.L613L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 21 43833142 43833142 single base substitution C G downstream_gene_variant BLCA-US 21 43833142 43833142 single base substitution C G exon_variant BLCA-US 21 43833142 43833142 single base substitution C G missense_variant Q122E 364C>G BLCA-US 21 43833287 43833287 single base substitution G A downstream_gene_variant BLCA-US 21 43833287 43833287 single base substitution G A exon_variant BLCA-US 21 43833287 43833287 single base substitution G A missense_variant R170Q 509G>A BLCA-US 21 43836631 43836631 single base substitution G C exon_variant BLCA-US 21 43836631 43836631 single base substitution G C missense_variant E212Q 634G>C BLCA-US 21 43836631 43836631 single base substitution G C missense_variant E250Q 748G>C BLCA-US 21 43838515 43838515 single base substitution G A exon_variant BLCA-US 21 43838515 43838515 single base substitution G A synonymous_variant L243L 729G>A BLCA-US 21 43838515 43838515 single base substitution G A synonymous_variant L281L 843G>A BLCA-US 21 43838679 43838679 single base substitution C T exon_variant BLCA-US 21 43838679 43838679 single base substitution C T missense_variant T298M 893C>T BLCA-US 21 43838679 43838679 single base substitution C T missense_variant T336M 1007C>T BLCA-US 21 43854960 43854960 single base substitution A T exon_variant BLCA-US 21 43854960 43854960 single base substitution A T missense_variant D392V 1175A>T BLCA-US 21 43854960 43854960 single base substitution A T missense_variant D430V 1289A>T BLCA-US 21 43867194 43867194 single base substitution G T exon_variant BLCA-US 21 43867194 43867194 single base substitution G T stop_gained E588* 1762G>T BLCA-US 21 43867194 43867194 single base substitution G T stop_gained E626* 1876G>T BLCA-US 21 43867194 43867194 single base substitution G T synonymous_variant V515V 1545G>T BLCA-US 21 43867289 43867289 single base substitution G C 3_prime_UTR_variant BLCA-US 21 43867289 43867289 single base substitution G C exon_variant BLCA-US 21 43867289 43867289 single base substitution G C missense_variant W619C 1857G>C BLCA-US 21 43867289 43867289 single base substitution G C missense_variant W657C 1971G>C BLCA-US 21 43867303 43867303 single base substitution G T 3_prime_UTR_variant BLCA-US 21 43867303 43867303 single base substitution G T exon_variant BLCA-US 21 43867303 43867303 single base substitution G T stop_lost *624L 1871G>T BLCA-US 21 43867303 43867303 single base substitution G T stop_lost *662L 1985G>T BOCA-FR 21 43835516 43835516 single base substitution C T downstream_gene_variant BOCA-FR 21 43835516 43835516 single base substitution C T intron_variant BRCA-EU 21 43819109 43819109 single base substitution C T upstream_gene_variant BRCA-EU 21 43819633 43819633 single base substitution G C upstream_gene_variant BRCA-EU 21 43819927 43819927 single base substitution G A upstream_gene_variant BRCA-EU 21 43821828 43821828 deletion of <=200bp G - upstream_gene_variant BRCA-EU 21 43821934 43821934 single base substitution T G upstream_gene_variant BRCA-EU 21 43822593 43822593 single base substitution C T upstream_gene_variant BRCA-EU 21 43822611 43822611 single base substitution G C upstream_gene_variant BRCA-EU 21 43823660 43823660 single base substitution T C upstream_gene_variant BRCA-EU 21 43825430 43825430 single base substitution G A intron_variant BRCA-EU 21 43825662 43825662 single base substitution C G intron_variant BRCA-EU 21 43826744 43826744 single base substitution G C intron_variant BRCA-EU 21 43826792 43826792 single base substitution G A intron_variant BRCA-EU 21 43827158 43827158 single base substitution C G intron_variant BRCA-EU 21 43828423 43828423 single base substitution C T intron_variant BRCA-EU 21 43828500 43828500 single base substitution T C intron_variant BRCA-EU 21 43829277 43829277 single base substitution G C intron_variant BRCA-EU 21 43829348 43829348 single base substitution G C intron_variant BRCA-EU 21 43830394 43830394 single base substitution G A 3_prime_UTR_variant BRCA-EU 21 43830394 43830394 single base substitution G A intron_variant BRCA-EU 21 43832247 43832247 single base substitution C G downstream_gene_variant BRCA-EU 21 43832247 43832247 single base substitution C G intron_variant BRCA-EU 21 43833085 43833085 single base substitution C G downstream_gene_variant BRCA-EU 21 43833085 43833085 single base substitution C G intron_variant BRCA-EU 21 43833115 43833115 single base substitution C G downstream_gene_variant BRCA-EU 21 43833115 43833115 single base substitution C G intron_variant BRCA-EU 21 43833294 43833294 single base substitution C A downstream_gene_variant BRCA-EU 21 43833294 43833294 single base substitution C A exon_variant BRCA-EU 21 43833294 43833294 single base substitution C A missense_variant F172L 516C>A BRCA-EU 21 43833977 43833977 single base substitution C T downstream_gene_variant BRCA-EU 21 43833977 43833977 single base substitution C T intron_variant BRCA-EU 21 43834346 43834346 single base substitution G A downstream_gene_variant BRCA-EU 21 43834346 43834346 single base substitution G A intron_variant BRCA-EU 21 43834569 43834569 single base substitution A T downstream_gene_variant BRCA-EU 21 43834569 43834569 single base substitution A T intron_variant BRCA-EU 21 43835908 43835908 single base substitution C T intron_variant BRCA-EU 21 43836114 43836114 single base substitution C G intron_variant BRCA-EU 21 43836163 43836163 single base substitution G C intron_variant BRCA-EU 21 43837108 43837108 single base substitution G T intron_variant BRCA-EU 21 43837658 43837658 single base substitution C T intron_variant BRCA-EU 21 43838277 43838277 single base substitution C T intron_variant BRCA-EU 21 43838883 43838883 single base substitution G A intron_variant BRCA-EU 21 43839047 43839047 single base substitution C T intron_variant BRCA-EU 21 43840276 43840276 single base substitution G C intron_variant BRCA-EU 21 43840783 43840783 single base substitution C T intron_variant BRCA-EU 21 43840892 43840892 single base substitution G T intron_variant BRCA-EU 21 43841499 43841499 single base substitution G A intron_variant BRCA-EU 21 43841593 43841593 single base substitution C G intron_variant BRCA-EU 21 43842016 43842016 single base substitution T G intron_variant BRCA-EU 21 43842129 43842129 single base substitution G C intron_variant BRCA-EU 21 43842425 43842425 single base substitution T A intron_variant BRCA-EU 21 43842426 43842426 single base substitution A G intron_variant BRCA-EU 21 43842753 43842753 single base substitution C T intron_variant BRCA-EU 21 43843402 43843402 single base substitution G A intron_variant BRCA-EU 21 43844497 43844497 single base substitution A G intron_variant BRCA-EU 21 43845627 43845627 single base substitution C G intron_variant BRCA-EU 21 43846161 43846169 deletion of <=200bp TGCACAATT - intron_variant BRCA-EU 21 43846595 43846595 single base substitution T G intron_variant BRCA-EU 21 43846637 43846637 single base substitution T C intron_variant BRCA-EU 21 43847999 43847999 single base substitution G A intron_variant BRCA-EU 21 43848936 43848936 single base substitution G A intron_variant BRCA-EU 21 43849194 43849194 single base substitution G T intron_variant BRCA-EU 21 43849476 43849476 single base substitution A G intron_variant BRCA-EU 21 43850849 43850849 single base substitution T G intron_variant BRCA-EU 21 43851100 43851100 single base substitution G A intron_variant BRCA-EU 21 43851616 43851616 single base substitution A T intron_variant BRCA-EU 21 43852353 43852353 single base substitution G T intron_variant BRCA-EU 21 43854467 43854467 single base substitution G C intron_variant BRCA-EU 21 43854706 43854706 single base substitution G C intron_variant BRCA-EU 21 43856095 43856095 single base substitution T C intron_variant BRCA-EU 21 43856685 43856685 single base substitution T A intron_variant BRCA-EU 21 43857604 43857604 single base substitution C T intron_variant BRCA-EU 21 43857604 43857604 single base substitution C T missense_variant A429V 1286C>T BRCA-EU 21 43857604 43857604 single base substitution C T missense_variant A467V 1400C>T BRCA-EU 21 43857825 43857825 single base substitution G A intron_variant BRCA-EU 21 43858160 43858160 single base substitution C T intron_variant BRCA-EU 21 43858418 43858418 single base substitution G A intron_variant BRCA-EU 21 43859551 43859551 single base substitution A G intron_variant BRCA-EU 21 43860963 43860963 single base substitution G A intron_variant BRCA-EU 21 43861445 43861445 single base substitution G T intron_variant BRCA-EU 21 43863691 43863691 single base substitution C G intron_variant BRCA-EU 21 43864679 43864679 single base substitution C G exon_variant BRCA-EU 21 43864679 43864679 single base substitution C G intron_variant BRCA-EU 21 43864679 43864679 single base substitution C G missense_variant L554V 1660C>G BRCA-EU 21 43864679 43864679 single base substitution C G missense_variant L592V 1774C>G BRCA-EU 21 43864932 43864932 single base substitution G T intron_variant BRCA-EU 21 43865274 43865274 single base substitution C G intron_variant BRCA-EU 21 43866576 43866576 single base substitution T C intron_variant BRCA-EU 21 43866763 43866763 single base substitution C T intron_variant BRCA-EU 21 43869371 43869371 single base substitution A G downstream_gene_variant BRCA-EU 21 43870145 43870145 deletion of <=200bp A - downstream_gene_variant BRCA-EU 21 43870888 43870888 single base substitution C A downstream_gene_variant BRCA-EU 21 43870983 43870983 single base substitution T A downstream_gene_variant BRCA-EU 21 43871313 43871313 single base substitution C G downstream_gene_variant BRCA-EU 21 43871760 43871760 deletion of <=200bp A - downstream_gene_variant BRCA-EU 21 43872290 43872290 single base substitution C T downstream_gene_variant BRCA-FR 21 43826218 43826218 single base substitution G A intron_variant BRCA-FR 21 43832247 43832247 single base substitution C G downstream_gene_variant BRCA-FR 21 43832247 43832247 single base substitution C G intron_variant BRCA-FR 21 43835908 43835908 single base substitution C T intron_variant BRCA-FR 21 43838376 43838376 single base substitution G C intron_variant BRCA-FR 21 43856981 43856981 single base substitution C G intron_variant BRCA-UK 21 43825430 43825430 single base substitution G A intron_variant BRCA-UK 21 43840276 43840276 single base substitution G C intron_variant BRCA-US 21 43833311 43833311 single base substitution C T downstream_gene_variant BRCA-US 21 43833311 43833311 single base substitution C T exon_variant BRCA-US 21 43833311 43833311 single base substitution C T missense_variant T178M 533C>T BRCA-US 21 43862566 43862566 single base substitution C G exon_variant BRCA-US 21 43862566 43862566 single base substitution C G synonymous_variant L459L 1377C>G BRCA-US 21 43862566 43862566 single base substitution C G synonymous_variant L497L 1491C>G BRCA-US 21 43862645 43862645 single base substitution C T exon_variant BRCA-US 21 43862645 43862645 single base substitution C T missense_variant P486S 1456C>T BRCA-US 21 43862645 43862645 single base substitution C T missense_variant P524S 1570C>T BRCA-US 21 43862675 43862675 single base substitution G C exon_variant BRCA-US 21 43862675 43862675 single base substitution G C missense_variant E496Q 1486G>C BRCA-US 21 43862675 43862675 single base substitution G C missense_variant E534Q 1600G>C BTCA-JP 21 43829594 43829594 single base substitution C A exon_variant BTCA-JP 21 43829594 43829594 single base substitution C A missense_variant F77L 231C>A BTCA-JP 21 43838555 43838555 single base substitution C T exon_variant BTCA-JP 21 43838555 43838555 single base substitution C T synonymous_variant L257L 769C>T BTCA-JP 21 43838555 43838555 single base substitution C T synonymous_variant L295L 883C>T BTCA-JP 21 43857643 43857643 single base substitution C T intron_variant BTCA-JP 21 43857643 43857643 single base substitution C T missense_variant A442V 1325C>T BTCA-JP 21 43857643 43857643 single base substitution C T missense_variant A480V 1439C>T BTCA-JP 21 43864695 43864695 single base substitution G A exon_variant BTCA-JP 21 43864695 43864695 single base substitution G A intron_variant BTCA-JP 21 43864695 43864695 single base substitution G A missense_variant R559Q 1676G>A BTCA-JP 21 43864695 43864695 single base substitution G A missense_variant R597Q 1790G>A BTCA-JP 21 43864745 43864745 single base substitution G A exon_variant BTCA-JP 21 43864745 43864745 single base substitution G A intron_variant BTCA-JP 21 43864745 43864745 single base substitution G A missense_variant V576M 1726G>A BTCA-JP 21 43864745 43864745 single base substitution G A missense_variant V614M 1840G>A CESC-US 21 43867194 43867194 single base substitution G A exon_variant CESC-US 21 43867194 43867194 single base substitution G A missense_variant E588K 1762G>A CESC-US 21 43867194 43867194 single base substitution G A missense_variant E626K 1876G>A CESC-US 21 43867194 43867194 single base substitution G A synonymous_variant V515V 1545G>A CLLE-ES 21 43831792 43831792 single base substitution G C downstream_gene_variant CLLE-ES 21 43831792 43831792 single base substitution G C intron_variant CLLE-ES 21 43860060 43860060 single base substitution C T intron_variant CLLE-ES 21 43867993 43867993 single base substitution C T downstream_gene_variant CLLE-ES 21 43871229 43871229 single base substitution T A downstream_gene_variant COAD-US 21 43826451 43826451 single base substitution G A exon_variant COAD-US 21 43826451 43826451 single base substitution G A missense_variant A50T 148G>A COAD-US 21 43829573 43829573 deletion of <=200bp C - exon_variant COAD-US 21 43829573 43829573 deletion of <=200bp C - frameshift_variant I70 COAD-US 21 43833319 43833320 deletion of <=200bp TC - downstream_gene_variant COAD-US 21 43833319 43833320 deletion of <=200bp TC - exon_variant COAD-US 21 43833319 43833320 deletion of <=200bp TC - frameshift_variant S181 COAD-US 21 43852232 43852232 single base substitution C T exon_variant COAD-US 21 43852232 43852232 single base substitution C T synonymous_variant S359S 1077C>T COAD-US 21 43852232 43852232 single base substitution C T synonymous_variant S397S 1191C>T COAD-US 21 43857627 43857627 single base substitution A G intron_variant COAD-US 21 43857627 43857627 single base substitution A G missense_variant I437V 1309A>G COAD-US 21 43857627 43857627 single base substitution A G missense_variant I475V 1423A>G COCA-CN 21 43824065 43824065 single base substitution G A exon_variant COCA-CN 21 43824065 43824065 single base substitution G A missense_variant G4E 11G>A COCA-CN 21 43826269 43826269 single base substitution G A intron_variant COCA-CN 21 43826374 43826374 single base substitution G T intron_variant COCA-CN 21 43846905 43846905 single base substitution T G exon_variant COCA-CN 21 43846905 43846905 single base substitution T G missense_variant S344R 1032T>G COCA-CN 21 43846905 43846905 single base substitution T G missense_variant S382R 1146T>G COCA-CN 21 43852160 43852160 single base substitution A G intron_variant COCA-CN 21 43855042 43855042 single base substitution C T exon_variant COCA-CN 21 43855042 43855042 single base substitution C T synonymous_variant G419G 1257C>T COCA-CN 21 43855042 43855042 single base substitution C T synonymous_variant G457G 1371C>T COCA-CN 21 43859837 43859837 single base substitution C T intron_variant COCA-CN 21 43862549 43862549 single base substitution C A intron_variant COCA-CN 21 43862608 43862608 single base substitution C A exon_variant COCA-CN 21 43862608 43862608 single base substitution C A synonymous_variant I473I 1419C>A COCA-CN 21 43862608 43862608 single base substitution C A synonymous_variant I511I 1533C>A COCA-CN 21 43863521 43863521 single base substitution A G exon_variant COCA-CN 21 43863521 43863521 single base substitution A G intron_variant COCA-CN 21 43863521 43863521 single base substitution A G synonymous_variant P539P 1617A>G COCA-CN 21 43863521 43863521 single base substitution A G synonymous_variant P577P 1731A>G COCA-CN 21 43864644 43864644 single base substitution C T intron_variant COCA-CN 21 43864644 43864644 single base substitution C T missense_variant T542M 1625C>T COCA-CN 21 43864644 43864644 single base substitution C T missense_variant T580M 1739C>T COCA-CN 21 43864644 43864644 single base substitution C T splice_region_variant COCA-CN 21 43864668 43864668 single base substitution A G exon_variant COCA-CN 21 43864668 43864668 single base substitution A G intron_variant COCA-CN 21 43864668 43864668 single base substitution A G missense_variant H550R 1649A>G COCA-CN 21 43864668 43864668 single base substitution A G missense_variant H588R 1763A>G EOPC-DE 21 43869568 43869568 single base substitution A G downstream_gene_variant ESAD-UK 21 43826792 43826792 single base substitution G A intron_variant ESAD-UK 21 43826986 43826986 single base substitution G C intron_variant ESAD-UK 21 43830086 43830086 single base substitution A T intron_variant ESAD-UK 21 43834863 43834863 single base substitution C T downstream_gene_variant ESAD-UK 21 43834863 43834863 single base substitution C T intron_variant ESAD-UK 21 43835930 43835930 single base substitution G A intron_variant ESAD-UK 21 43837321 43837321 single base substitution C T intron_variant ESAD-UK 21 43837487 43837487 single base substitution C T intron_variant ESAD-UK 21 43839848 43839848 single base substitution C T intron_variant ESAD-UK 21 43840793 43840793 single base substitution C T intron_variant ESAD-UK 21 43841413 43841413 single base substitution A C intron_variant ESAD-UK 21 43843659 43843659 single base substitution G A intron_variant ESAD-UK 21 43846996 43846996 single base substitution G A intron_variant ESAD-UK 21 43847359 43847359 single base substitution C T intron_variant ESAD-UK 21 43848424 43848424 single base substitution C A intron_variant ESAD-UK 21 43849070 43849070 single base substitution A G intron_variant ESAD-UK 21 43853097 43853097 single base substitution T G intron_variant ESAD-UK 21 43853262 43853262 single base substitution G T intron_variant ESAD-UK 21 43856201 43856202 deletion of <=200bp AT - intron_variant ESAD-UK 21 43857450 43857450 single base substitution T C intron_variant ESAD-UK 21 43858378 43858378 single base substitution A G intron_variant ESAD-UK 21 43859017 43859017 single base substitution G A intron_variant ESAD-UK 21 43859073 43859073 single base substitution G A intron_variant ESAD-UK 21 43859112 43859112 single base substitution C T intron_variant ESAD-UK 21 43860709 43860709 single base substitution A C intron_variant ESAD-UK 21 43864884 43864884 single base substitution G A intron_variant ESAD-UK 21 43866860 43866860 single base substitution C T intron_variant ESAD-UK 21 43868350 43868352 deletion of <=200bp AGT - downstream_gene_variant ESAD-UK 21 43869256 43869256 single base substitution G A downstream_gene_variant ESCA-CN 21 43852251 43852251 single base substitution G A exon_variant ESCA-CN 21 43852251 43852251 single base substitution G A missense_variant G366R 1096G>A ESCA-CN 21 43852251 43852251 single base substitution G A missense_variant G404R 1210G>A ESCA-CN 21 43852274 43852274 single base substitution C T exon_variant ESCA-CN 21 43852274 43852274 single base substitution C T synonymous_variant F373F 1119C>T ESCA-CN 21 43852274 43852274 single base substitution C T synonymous_variant F411F 1233C>T GBM-US 21 43846877 43846877 single base substitution G A exon_variant GBM-US 21 43846877 43846877 single base substitution G A missense_variant G335E 1004G>A GBM-US 21 43846877 43846877 single base substitution G A missense_variant G373E 1118G>A GBM-US 21 43867265 43867265 single base substitution C T 3_prime_UTR_variant GBM-US 21 43867265 43867265 single base substitution C T exon_variant GBM-US 21 43867265 43867265 single base substitution C T synonymous_variant N611N 1833C>T GBM-US 21 43867265 43867265 single base substitution C T synonymous_variant N649N 1947C>T KIRC-US 21 43867186 43867186 deletion of <=200bp G - exon_variant KIRC-US 21 43867186 43867186 deletion of <=200bp G - frameshift_variant A513 KIRC-US 21 43867186 43867186 deletion of <=200bp G - frameshift_variant C585 KIRC-US 21 43867186 43867186 deletion of <=200bp G - frameshift_variant C623 LAML-KR 21 43831269 43831269 single base substitution C A downstream_gene_variant LAML-KR 21 43831269 43831269 single base substitution C A intron_variant LAML-KR 21 43846956 43846956 single base substitution T G intron_variant LAML-KR 21 43855067 43855067 single base substitution A C exon_variant LAML-KR 21 43855067 43855067 single base substitution A C splice_region_variant LAML-KR 21 43856046 43856046 single base substitution G A intron_variant LAML-KR 21 43856122 43856122 single base substitution T C intron_variant LAML-KR 21 43863892 43863892 single base substitution G C intron_variant LGG-US 21 43833168 43833168 single base substitution G A downstream_gene_variant LGG-US 21 43833168 43833168 single base substitution G A exon_variant LGG-US 21 43833168 43833168 single base substitution G A synonymous_variant A130A 390G>A LICA-CN 21 43846810 43846810 single base substitution T A exon_variant LICA-CN 21 43846810 43846810 single base substitution T A missense_variant Y313N 937T>A LICA-CN 21 43846810 43846810 single base substitution T A missense_variant Y351N 1051T>A LICA-FR 21 43821377 43821377 deletion of <=200bp T - upstream_gene_variant LICA-FR 21 43833332 43833332 single base substitution G A downstream_gene_variant LICA-FR 21 43833332 43833332 single base substitution G A splice_donor_variant LICA-FR 21 43846848 43846848 single base substitution G A exon_variant LICA-FR 21 43846848 43846848 single base substitution G A synonymous_variant K325K 975G>A LICA-FR 21 43846848 43846848 single base substitution G A synonymous_variant K363K 1089G>A LICA-FR 21 43846858 43846858 single base substitution G A exon_variant LICA-FR 21 43846858 43846858 single base substitution G A missense_variant A329T 985G>A LICA-FR 21 43846858 43846858 single base substitution G A missense_variant A367T 1099G>A LICA-FR 21 43857622 43857622 deletion of <=200bp T - frameshift_variant I435 LICA-FR 21 43857622 43857622 deletion of <=200bp T - frameshift_variant I473 LICA-FR 21 43857622 43857622 deletion of <=200bp T - intron_variant LICA-FR 21 43867233 43867233 single base substitution C T 3_prime_UTR_variant LICA-FR 21 43867233 43867233 single base substitution C T exon_variant LICA-FR 21 43867233 43867233 single base substitution C T missense_variant P601S 1801C>T LICA-FR 21 43867233 43867233 single base substitution C T missense_variant P639S 1915C>T LINC-JP 21 43823598 43823598 single base substitution G A upstream_gene_variant LINC-JP 21 43829347 43829347 single base substitution T A intron_variant LINC-JP 21 43829739 43829739 single base substitution T C intron_variant LINC-JP 21 43830811 43830811 single base substitution C A downstream_gene_variant LINC-JP 21 43830811 43830811 single base substitution C A intron_variant LINC-JP 21 43838572 43838572 single base substitution T C exon_variant LINC-JP 21 43838572 43838572 single base substitution T C synonymous_variant G262G 786T>C LINC-JP 21 43838572 43838572 single base substitution T C synonymous_variant G300G 900T>C LINC-JP 21 43854888 43854888 single base substitution C G intron_variant LINC-JP 21 43855158 43855158 single base substitution C T exon_variant LINC-JP 21 43855158 43855158 single base substitution C T intron_variant LINC-JP 21 43865951 43865951 single base substitution C T intron_variant LINC-JP 21 43867440 43867440 single base substitution A T 3_prime_UTR_variant LINC-JP 21 43867440 43867440 single base substitution A T downstream_gene_variant LINC-JP 21 43867440 43867440 single base substitution A T exon_variant LINC-JP 21 43868817 43868817 single base substitution A T downstream_gene_variant LINC-JP 21 43869689 43869689 single base substitution C A downstream_gene_variant LINC-JP 21 43871229 43871229 single base substitution T C downstream_gene_variant LINC-JP 21 43872395 43872395 single base substitution T C downstream_gene_variant LIRI-JP 21 43819418 43819418 single base substitution C A upstream_gene_variant LIRI-JP 21 43820017 43820017 single base substitution C A upstream_gene_variant LIRI-JP 21 43820104 43820104 single base substitution C T upstream_gene_variant LIRI-JP 21 43820428 43820428 single base substitution G A upstream_gene_variant LIRI-JP 21 43821411 43821411 single base substitution T C upstream_gene_variant LIRI-JP 21 43823629 43823629 single base substitution A G upstream_gene_variant LIRI-JP 21 43824673 43824673 single base substitution G T intron_variant LIRI-JP 21 43825631 43825631 single base substitution C A intron_variant LIRI-JP 21 43826554 43826554 single base substitution C A intron_variant LIRI-JP 21 43829607 43829607 single base substitution G T exon_variant LIRI-JP 21 43829607 43829607 single base substitution G T missense_variant G82W 244G>T LIRI-JP 21 43830071 43830071 single base substitution C T intron_variant LIRI-JP 21 43830282 43830282 single base substitution A G 3_prime_UTR_variant LIRI-JP 21 43830282 43830282 single base substitution A G intron_variant LIRI-JP 21 43834320 43834320 single base substitution T G downstream_gene_variant LIRI-JP 21 43834320 43834320 single base substitution T G intron_variant LIRI-JP 21 43834694 43834694 single base substitution G T downstream_gene_variant LIRI-JP 21 43834694 43834694 single base substitution G T intron_variant LIRI-JP 21 43836039 43836039 single base substitution T C intron_variant LIRI-JP 21 43838271 43838271 single base substitution G A intron_variant LIRI-JP 21 43838806 43838806 single base substitution C T intron_variant LIRI-JP 21 43840276 43840276 single base substitution G A intron_variant LIRI-JP 21 43841154 43841154 single base substitution G A intron_variant LIRI-JP 21 43843573 43843573 single base substitution A G intron_variant LIRI-JP 21 43844510 43844510 single base substitution A G intron_variant LIRI-JP 21 43848120 43848120 single base substitution A T intron_variant LIRI-JP 21 43849763 43849763 single base substitution C T intron_variant LIRI-JP 21 43851483 43851483 single base substitution G T intron_variant LIRI-JP 21 43853260 43853260 single base substitution G A intron_variant LIRI-JP 21 43858552 43858552 single base substitution G T intron_variant LIRI-JP 21 43860514 43860514 single base substitution T C intron_variant LIRI-JP 21 43861160 43861160 single base substitution T C intron_variant LIRI-JP 21 43865850 43865850 single base substitution C A intron_variant LIRI-JP 21 43866559 43866559 single base substitution C T intron_variant LIRI-JP 21 43869700 43869700 single base substitution G C downstream_gene_variant LUSC-CN 21 43863506 43863506 single base substitution C A exon_variant LUSC-CN 21 43863506 43863506 single base substitution C A intron_variant LUSC-CN 21 43863506 43863506 single base substitution C A synonymous_variant I534I 1602C>A LUSC-CN 21 43863506 43863506 single base substitution C A synonymous_variant I572I 1716C>A LUSC-KR 21 43822572 43822572 single base substitution C A upstream_gene_variant LUSC-KR 21 43825110 43825110 single base substitution G T intron_variant LUSC-KR 21 43825912 43825912 single base substitution T C intron_variant LUSC-KR 21 43826618 43826618 single base substitution C T intron_variant LUSC-KR 21 43829284 43829284 single base substitution G T intron_variant LUSC-KR 21 43829758 43829758 single base substitution G A intron_variant LUSC-KR 21 43830287 43830287 single base substitution G T 3_prime_UTR_variant LUSC-KR 21 43830287 43830287 single base substitution G T intron_variant LUSC-KR 21 43830761 43830761 single base substitution G T downstream_gene_variant LUSC-KR 21 43830761 43830761 single base substitution G T intron_variant LUSC-KR 21 43833407 43833407 single base substitution C T downstream_gene_variant LUSC-KR 21 43833407 43833407 single base substitution C T intron_variant LUSC-KR 21 43834565 43834565 single base substitution G T downstream_gene_variant LUSC-KR 21 43834565 43834565 single base substitution G T intron_variant LUSC-KR 21 43836390 43836390 single base substitution A G intron_variant LUSC-KR 21 43838403 43838403 single base substitution T A intron_variant LUSC-KR 21 43838936 43838936 single base substitution G A intron_variant LUSC-KR 21 43841772 43841772 single base substitution C G intron_variant LUSC-KR 21 43841853 43841853 single base substitution G T intron_variant LUSC-KR 21 43842242 43842242 single base substitution C G intron_variant LUSC-KR 21 43846179 43846179 single base substitution G A intron_variant LUSC-KR 21 43846956 43846956 single base substitution T G intron_variant LUSC-KR 21 43850910 43850910 single base substitution G T intron_variant LUSC-KR 21 43852015 43852015 single base substitution T C intron_variant LUSC-KR 21 43852037 43852037 single base substitution T C intron_variant LUSC-KR 21 43856046 43856046 single base substitution G A intron_variant LUSC-KR 21 43857615 43857615 single base substitution A G intron_variant LUSC-KR 21 43857615 43857615 single base substitution A G missense_variant S433G 1297A>G LUSC-KR 21 43857615 43857615 single base substitution A G missense_variant S471G 1411A>G LUSC-KR 21 43857754 43857754 single base substitution G T intron_variant LUSC-KR 21 43858803 43858803 single base substitution G T intron_variant LUSC-KR 21 43860662 43860662 single base substitution A G intron_variant LUSC-KR 21 43862474 43862474 single base substitution G A intron_variant LUSC-KR 21 43863892 43863892 single base substitution G C intron_variant LUSC-KR 21 43866781 43866781 single base substitution C T intron_variant LUSC-KR 21 43866815 43866815 single base substitution T G intron_variant LUSC-KR 21 43866817 43866817 single base substitution G A intron_variant LUSC-US 21 43867227 43867227 single base substitution G C exon_variant LUSC-US 21 43867227 43867227 single base substitution G C missense_variant V599L 1795G>C LUSC-US 21 43867227 43867227 single base substitution G C missense_variant V637L 1909G>C LUSC-US 21 43867227 43867227 single base substitution G C missense_variant W526C 1578G>C MALY-DE 21 43850515 43850515 single base substitution T G intron_variant MALY-DE 21 43853495 43853495 single base substitution C G intron_variant MALY-DE 21 43855354 43855354 single base substitution A G exon_variant MALY-DE 21 43855354 43855354 single base substitution A G intron_variant MALY-DE 21 43857026 43857026 single base substitution G A intron_variant MALY-DE 21 43857665 43857665 single base substitution G A exon_variant MALY-DE 21 43857665 43857665 single base substitution G A synonymous_variant V449V 1347G>A MALY-DE 21 43857665 43857665 single base substitution G A synonymous_variant V487V 1461G>A MALY-DE 21 43861880 43861880 single base substitution T G intron_variant MALY-DE 21 43861945 43861945 single base substitution T G intron_variant MALY-DE 21 43862235 43862235 single base substitution C T intron_variant MALY-DE 21 43864883 43864883 single base substitution C T intron_variant MELA-AU 21 43819025 43819025 single base substitution G A upstream_gene_variant MELA-AU 21 43819221 43819221 single base substitution G C upstream_gene_variant MELA-AU 21 43819347 43819347 single base substitution C T upstream_gene_variant MELA-AU 21 43819547 43819547 single base substitution G A upstream_gene_variant MELA-AU 21 43819752 43819752 single base substitution A G upstream_gene_variant MELA-AU 21 43819785 43819785 single base substitution C T upstream_gene_variant MELA-AU 21 43820032 43820032 insertion of <=200bp - T upstream_gene_variant MELA-AU 21 43820169 43820169 single base substitution G A upstream_gene_variant MELA-AU 21 43820217 43820217 single base substitution C T upstream_gene_variant MELA-AU 21 43820546 43820546 single base substitution G A upstream_gene_variant MELA-AU 21 43820655 43820655 single base substitution C T upstream_gene_variant MELA-AU 21 43820735 43820735 single base substitution C T upstream_gene_variant MELA-AU 21 43820925 43820925 single base substitution C T upstream_gene_variant MELA-AU 21 43821132 43821132 single base substitution C T upstream_gene_variant MELA-AU 21 43821225 43821225 single base substitution A G upstream_gene_variant MELA-AU 21 43821451 43821451 single base substitution C T upstream_gene_variant MELA-AU 21 43821484 43821484 single base substitution C T upstream_gene_variant MELA-AU 21 43821592 43821592 single base substitution C T upstream_gene_variant MELA-AU 21 43821714 43821714 single base substitution G A upstream_gene_variant MELA-AU 21 43821725 43821725 single base substitution G A upstream_gene_variant MELA-AU 21 43821966 43821966 single base substitution T C upstream_gene_variant MELA-AU 21 43822037 43822037 single base substitution G A upstream_gene_variant MELA-AU 21 43822113 43822113 single base substitution C T upstream_gene_variant MELA-AU 21 43822124 43822124 single base substitution G A upstream_gene_variant MELA-AU 21 43822248 43822248 single base substitution C T upstream_gene_variant MELA-AU 21 43822324 43822324 single base substitution G A upstream_gene_variant MELA-AU 21 43822334 43822334 single base substitution G A upstream_gene_variant MELA-AU 21 43822393 43822393 single base substitution T A upstream_gene_variant MELA-AU 21 43822611 43822611 single base substitution G A upstream_gene_variant MELA-AU 21 43822854 43822854 single base substitution G A upstream_gene_variant MELA-AU 21 43822882 43822882 single base substitution C T upstream_gene_variant MELA-AU 21 43822894 43822894 single base substitution C T upstream_gene_variant MELA-AU 21 43823045 43823045 single base substitution G A upstream_gene_variant MELA-AU 21 43823128 43823128 single base substitution C A upstream_gene_variant MELA-AU 21 43823155 43823155 single base substitution G A upstream_gene_variant MELA-AU 21 43823214 43823214 single base substitution C T upstream_gene_variant MELA-AU 21 43823234 43823234 single base substitution C T upstream_gene_variant MELA-AU 21 43823403 43823403 single base substitution G A upstream_gene_variant MELA-AU 21 43823428 43823428 single base substitution C T upstream_gene_variant MELA-AU 21 43823445 43823445 single base substitution G A upstream_gene_variant MELA-AU 21 43823477 43823477 single base substitution G A upstream_gene_variant MELA-AU 21 43823483 43823483 single base substitution C T upstream_gene_variant MELA-AU 21 43823672 43823672 single base substitution C T upstream_gene_variant MELA-AU 21 43824039 43824039 single base substitution C T 5_prime_UTR_variant MELA-AU 21 43824039 43824039 single base substitution C T exon_variant MELA-AU 21 43824144 43824144 single base substitution C T exon_variant MELA-AU 21 43824144 43824144 single base substitution C T synonymous_variant A30A 90C>T MELA-AU 21 43824154 43824154 single base substitution C T exon_variant MELA-AU 21 43824154 43824154 single base substitution C T missense_variant P34S 100C>T MELA-AU 21 43824622 43824622 single base substitution G A intron_variant MELA-AU 21 43824680 43824680 single base substitution G A intron_variant MELA-AU 21 43824812 43824812 single base substitution C T intron_variant MELA-AU 21 43824841 43824841 single base substitution G A intron_variant MELA-AU 21 43825006 43825006 single base substitution C T intron_variant MELA-AU 21 43825131 43825131 single base substitution G A intron_variant MELA-AU 21 43825546 43825546 single base substitution C T intron_variant MELA-AU 21 43825795 43825795 single base substitution C T intron_variant MELA-AU 21 43825910 43825910 single base substitution G A intron_variant MELA-AU 21 43825974 43825974 single base substitution C T intron_variant MELA-AU 21 43825986 43825986 single base substitution T G intron_variant MELA-AU 21 43826121 43826121 single base substitution G A intron_variant MELA-AU 21 43826155 43826155 single base substitution C T intron_variant MELA-AU 21 43826529 43826529 single base substitution G A intron_variant MELA-AU 21 43826596 43826596 single base substitution G A intron_variant MELA-AU 21 43826606 43826606 single base substitution C A intron_variant MELA-AU 21 43826647 43826647 single base substitution G A intron_variant MELA-AU 21 43826729 43826729 single base substitution C T intron_variant MELA-AU 21 43826788 43826788 single base substitution G A intron_variant MELA-AU 21 43826838 43826838 single base substitution G A intron_variant MELA-AU 21 43826921 43826921 single base substitution G T intron_variant MELA-AU 21 43827214 43827214 single base substitution C T intron_variant MELA-AU 21 43827254 43827255 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 43827409 43827410 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 43827422 43827422 single base substitution C T intron_variant MELA-AU 21 43827676 43827676 single base substitution C T intron_variant MELA-AU 21 43827850 43827850 single base substitution C T intron_variant MELA-AU 21 43827872 43827872 single base substitution C T intron_variant MELA-AU 21 43828051 43828051 single base substitution C T intron_variant MELA-AU 21 43828244 43828244 single base substitution G A intron_variant MELA-AU 21 43828756 43828756 single base substitution G A intron_variant MELA-AU 21 43828832 43828832 single base substitution C T intron_variant MELA-AU 21 43829185 43829185 single base substitution C T intron_variant MELA-AU 21 43829558 43829558 single base substitution C T exon_variant MELA-AU 21 43829558 43829558 single base substitution C T synonymous_variant S65S 195C>T MELA-AU 21 43829594 43829594 single base substitution C T exon_variant MELA-AU 21 43829594 43829594 single base substitution C T synonymous_variant F77F 231C>T MELA-AU 21 43829711 43829711 single base substitution C T exon_variant MELA-AU 21 43829711 43829711 single base substitution C T synonymous_variant F116F 348C>T MELA-AU 21 43829862 43829863 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 43829916 43829916 single base substitution C T intron_variant MELA-AU 21 43829958 43829958 single base substitution C T intron_variant MELA-AU 21 43829990 43829990 single base substitution C T intron_variant MELA-AU 21 43830361 43830361 single base substitution G A 3_prime_UTR_variant MELA-AU 21 43830361 43830361 single base substitution G A intron_variant MELA-AU 21 43830363 43830363 single base substitution A G 3_prime_UTR_variant MELA-AU 21 43830363 43830363 single base substitution A G intron_variant MELA-AU 21 43830408 43830408 single base substitution G A 3_prime_UTR_variant MELA-AU 21 43830408 43830408 single base substitution G A intron_variant MELA-AU 21 43830582 43830582 single base substitution G A 3_prime_UTR_variant MELA-AU 21 43830582 43830582 single base substitution G A intron_variant MELA-AU 21 43830655 43830655 single base substitution G A 3_prime_UTR_variant MELA-AU 21 43830655 43830655 single base substitution G A intron_variant MELA-AU 21 43830665 43830665 single base substitution G A 3_prime_UTR_variant MELA-AU 21 43830665 43830665 single base substitution G A intron_variant MELA-AU 21 43830859 43830859 single base substitution A C downstream_gene_variant MELA-AU 21 43830859 43830859 single base substitution A C intron_variant MELA-AU 21 43832059 43832060 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 21 43832059 43832060 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 43832163 43832163 single base substitution G A downstream_gene_variant MELA-AU 21 43832163 43832163 single base substitution G A intron_variant MELA-AU 21 43832288 43832288 single base substitution G A downstream_gene_variant MELA-AU 21 43832288 43832288 single base substitution G A intron_variant MELA-AU 21 43832392 43832392 single base substitution G A downstream_gene_variant MELA-AU 21 43832392 43832392 single base substitution G A intron_variant MELA-AU 21 43832432 43832432 single base substitution G A downstream_gene_variant MELA-AU 21 43832432 43832432 single base substitution G A intron_variant MELA-AU 21 43832514 43832514 single base substitution C T downstream_gene_variant MELA-AU 21 43832514 43832514 single base substitution C T intron_variant MELA-AU 21 43832858 43832858 single base substitution G A downstream_gene_variant MELA-AU 21 43832858 43832858 single base substitution G A intron_variant MELA-AU 21 43833080 43833080 single base substitution G T downstream_gene_variant MELA-AU 21 43833080 43833080 single base substitution G T intron_variant MELA-AU 21 43833141 43833141 single base substitution C T downstream_gene_variant MELA-AU 21 43833141 43833141 single base substitution C T exon_variant MELA-AU 21 43833141 43833141 single base substitution C T synonymous_variant D121D 363C>T MELA-AU 21 43833163 43833163 single base substitution G A downstream_gene_variant MELA-AU 21 43833163 43833163 single base substitution G A exon_variant MELA-AU 21 43833163 43833163 single base substitution G A missense_variant E129K 385G>A MELA-AU 21 43833293 43833293 single base substitution T C downstream_gene_variant MELA-AU 21 43833293 43833293 single base substitution T C exon_variant MELA-AU 21 43833293 43833293 single base substitution T C missense_variant F172S 515T>C MELA-AU 21 43833604 43833604 single base substitution C T downstream_gene_variant MELA-AU 21 43833604 43833604 single base substitution C T intron_variant MELA-AU 21 43833604 43833604 single base substitution C T synonymous_variant S213S 639C>T MELA-AU 21 43833698 43833698 single base substitution C T downstream_gene_variant MELA-AU 21 43833698 43833698 single base substitution C T intron_variant MELA-AU 21 43833980 43833980 single base substitution C T downstream_gene_variant MELA-AU 21 43833980 43833980 single base substitution C T intron_variant MELA-AU 21 43834077 43834077 single base substitution C T downstream_gene_variant MELA-AU 21 43834077 43834077 single base substitution C T intron_variant MELA-AU 21 43834287 43834287 single base substitution G A downstream_gene_variant MELA-AU 21 43834287 43834287 single base substitution G A intron_variant MELA-AU 21 43834309 43834309 single base substitution C T downstream_gene_variant MELA-AU 21 43834309 43834309 single base substitution C T intron_variant MELA-AU 21 43834546 43834546 single base substitution G A downstream_gene_variant MELA-AU 21 43834546 43834546 single base substitution G A intron_variant MELA-AU 21 43834631 43834631 single base substitution G A downstream_gene_variant MELA-AU 21 43834631 43834631 single base substitution G A intron_variant MELA-AU 21 43834633 43834633 single base substitution A T downstream_gene_variant MELA-AU 21 43834633 43834633 single base substitution A T intron_variant MELA-AU 21 43834638 43834638 single base substitution G A downstream_gene_variant MELA-AU 21 43834638 43834638 single base substitution G A intron_variant MELA-AU 21 43834674 43834674 single base substitution G A downstream_gene_variant MELA-AU 21 43834674 43834674 single base substitution G A intron_variant MELA-AU 21 43834921 43834921 single base substitution G A downstream_gene_variant MELA-AU 21 43834921 43834921 single base substitution G A intron_variant MELA-AU 21 43835044 43835044 single base substitution C T downstream_gene_variant MELA-AU 21 43835044 43835044 single base substitution C T intron_variant MELA-AU 21 43835136 43835136 single base substitution C T downstream_gene_variant MELA-AU 21 43835136 43835136 single base substitution C T intron_variant MELA-AU 21 43835141 43835141 single base substitution G A downstream_gene_variant MELA-AU 21 43835141 43835141 single base substitution G A intron_variant MELA-AU 21 43835340 43835340 single base substitution A G downstream_gene_variant MELA-AU 21 43835340 43835340 single base substitution A G intron_variant MELA-AU 21 43835592 43835592 single base substitution C T downstream_gene_variant MELA-AU 21 43835592 43835592 single base substitution C T intron_variant MELA-AU 21 43835649 43835649 single base substitution C T downstream_gene_variant MELA-AU 21 43835649 43835649 single base substitution C T intron_variant MELA-AU 21 43835873 43835873 single base substitution G A intron_variant MELA-AU 21 43835967 43835967 single base substitution C T intron_variant MELA-AU 21 43836094 43836094 single base substitution G A intron_variant MELA-AU 21 43836099 43836099 single base substitution C T intron_variant MELA-AU 21 43836218 43836218 single base substitution G A intron_variant MELA-AU 21 43836257 43836257 single base substitution G A intron_variant MELA-AU 21 43836294 43836294 single base substitution C T intron_variant MELA-AU 21 43836355 43836355 single base substitution C T intron_variant MELA-AU 21 43836360 43836360 single base substitution C T intron_variant MELA-AU 21 43836381 43836381 single base substitution G A intron_variant MELA-AU 21 43836398 43836398 single base substitution C T intron_variant MELA-AU 21 43836675 43836675 single base substitution G T exon_variant MELA-AU 21 43836675 43836675 single base substitution G T missense_variant W226C 678G>T MELA-AU 21 43836675 43836675 single base substitution G T missense_variant W264C 792G>T MELA-AU 21 43836757 43836757 single base substitution G A intron_variant MELA-AU 21 43836815 43836816 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 43836835 43836835 single base substitution G A intron_variant MELA-AU 21 43836957 43836957 single base substitution G A intron_variant MELA-AU 21 43837125 43837125 single base substitution G A intron_variant MELA-AU 21 43837155 43837155 single base substitution C T intron_variant MELA-AU 21 43837487 43837487 single base substitution C T intron_variant MELA-AU 21 43837763 43837763 single base substitution G A intron_variant MELA-AU 21 43837778 43837778 single base substitution G A intron_variant MELA-AU 21 43838337 43838337 single base substitution C T intron_variant MELA-AU 21 43838430 43838430 single base substitution A G intron_variant MELA-AU 21 43838587 43838587 single base substitution G A exon_variant MELA-AU 21 43838587 43838587 single base substitution G A synonymous_variant V267V 801G>A MELA-AU 21 43838587 43838587 single base substitution G A synonymous_variant V305V 915G>A MELA-AU 21 43838606 43838606 single base substitution G A exon_variant MELA-AU 21 43838606 43838606 single base substitution G A missense_variant E274K 820G>A MELA-AU 21 43838606 43838606 single base substitution G A missense_variant E312K 934G>A MELA-AU 21 43839047 43839047 single base substitution C T intron_variant MELA-AU 21 43839089 43839089 single base substitution C T intron_variant MELA-AU 21 43839217 43839217 single base substitution C T intron_variant MELA-AU 21 43839234 43839234 single base substitution C T intron_variant MELA-AU 21 43839253 43839253 single base substitution C T intron_variant MELA-AU 21 43839398 43839398 single base substitution C T intron_variant MELA-AU 21 43839424 43839424 single base substitution G C intron_variant MELA-AU 21 43839561 43839561 single base substitution C T intron_variant MELA-AU 21 43839576 43839576 single base substitution C T intron_variant MELA-AU 21 43839610 43839610 single base substitution C T intron_variant MELA-AU 21 43839683 43839683 single base substitution C T intron_variant MELA-AU 21 43839690 43839690 single base substitution C T intron_variant MELA-AU 21 43839968 43839968 single base substitution C T intron_variant MELA-AU 21 43840029 43840029 single base substitution A G intron_variant MELA-AU 21 43840084 43840084 single base substitution T A intron_variant MELA-AU 21 43840133 43840133 single base substitution A G intron_variant MELA-AU 21 43840329 43840329 single base substitution G A intron_variant MELA-AU 21 43840715 43840715 single base substitution G A intron_variant MELA-AU 21 43840819 43840819 single base substitution G A intron_variant MELA-AU 21 43840820 43840820 single base substitution G A intron_variant MELA-AU 21 43840848 43840848 single base substitution G A intron_variant MELA-AU 21 43840853 43840853 single base substitution C T intron_variant MELA-AU 21 43840883 43840883 single base substitution A T intron_variant MELA-AU 21 43840894 43840894 single base substitution C T intron_variant MELA-AU 21 43840991 43840991 single base substitution C T intron_variant MELA-AU 21 43841093 43841093 single base substitution G A intron_variant MELA-AU 21 43841118 43841118 single base substitution T A intron_variant MELA-AU 21 43841262 43841262 single base substitution G A intron_variant MELA-AU 21 43841382 43841382 single base substitution G A intron_variant MELA-AU 21 43841393 43841393 single base substitution G A intron_variant MELA-AU 21 43841406 43841406 single base substitution G A intron_variant MELA-AU 21 43841486 43841486 single base substitution G A intron_variant MELA-AU 21 43841494 43841494 single base substitution C T intron_variant MELA-AU 21 43841525 43841525 single base substitution G A intron_variant MELA-AU 21 43841679 43841679 single base substitution C T intron_variant MELA-AU 21 43841736 43841736 single base substitution G A intron_variant MELA-AU 21 43841762 43841762 single base substitution G A intron_variant MELA-AU 21 43842052 43842052 single base substitution G A intron_variant MELA-AU 21 43842747 43842747 single base substitution C T intron_variant MELA-AU 21 43842753 43842753 single base substitution C T intron_variant MELA-AU 21 43842864 43842864 single base substitution G A intron_variant MELA-AU 21 43843294 43843294 single base substitution G A intron_variant MELA-AU 21 43843466 43843466 single base substitution C T intron_variant MELA-AU 21 43843499 43843499 single base substitution G A intron_variant MELA-AU 21 43843649 43843649 single base substitution C T intron_variant MELA-AU 21 43843689 43843689 single base substitution C T intron_variant MELA-AU 21 43843849 43843849 single base substitution T A intron_variant MELA-AU 21 43843856 43843856 single base substitution G A intron_variant MELA-AU 21 43843865 43843865 single base substitution C T intron_variant MELA-AU 21 43843899 43843899 single base substitution T A intron_variant MELA-AU 21 43844208 43844208 single base substitution G A intron_variant MELA-AU 21 43844216 43844216 single base substitution G A intron_variant MELA-AU 21 43844295 43844295 single base substitution G A intron_variant MELA-AU 21 43844528 43844528 single base substitution C T intron_variant MELA-AU 21 43844660 43844660 single base substitution G A intron_variant MELA-AU 21 43844735 43844735 single base substitution C T intron_variant MELA-AU 21 43845104 43845104 single base substitution C T intron_variant MELA-AU 21 43845192 43845192 single base substitution G A intron_variant MELA-AU 21 43845277 43845277 single base substitution T G intron_variant MELA-AU 21 43845329 43845329 single base substitution G A intron_variant MELA-AU 21 43845490 43845490 single base substitution G A intron_variant MELA-AU 21 43845762 43845762 single base substitution G A intron_variant MELA-AU 21 43846049 43846049 single base substitution T C intron_variant MELA-AU 21 43846277 43846277 single base substitution C T intron_variant MELA-AU 21 43846348 43846348 single base substitution C T intron_variant MELA-AU 21 43846354 43846354 single base substitution C T intron_variant MELA-AU 21 43846622 43846622 single base substitution A T intron_variant MELA-AU 21 43846711 43846712 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 43846751 43846751 single base substitution C T intron_variant MELA-AU 21 43846784 43846784 single base substitution C T intron_variant MELA-AU 21 43846877 43846877 single base substitution G A exon_variant MELA-AU 21 43846877 43846877 single base substitution G A missense_variant G335E 1004G>A MELA-AU 21 43846877 43846877 single base substitution G A missense_variant G373E 1118G>A MELA-AU 21 43847044 43847044 single base substitution C T intron_variant MELA-AU 21 43847071 43847071 single base substitution G A intron_variant MELA-AU 21 43847112 43847112 single base substitution C T intron_variant MELA-AU 21 43847288 43847288 single base substitution C T intron_variant MELA-AU 21 43847448 43847448 single base substitution C T intron_variant MELA-AU 21 43847627 43847627 single base substitution G A intron_variant MELA-AU 21 43847638 43847638 single base substitution C T intron_variant MELA-AU 21 43847646 43847646 single base substitution C T intron_variant MELA-AU 21 43847654 43847654 single base substitution G A intron_variant MELA-AU 21 43847679 43847679 single base substitution C T intron_variant MELA-AU 21 43847925 43847925 single base substitution C T intron_variant MELA-AU 21 43848025 43848025 single base substitution C T intron_variant MELA-AU 21 43848033 43848033 single base substitution G A intron_variant MELA-AU 21 43848199 43848199 single base substitution C T intron_variant MELA-AU 21 43848283 43848283 single base substitution C T intron_variant MELA-AU 21 43848285 43848285 single base substitution C T intron_variant MELA-AU 21 43848391 43848391 single base substitution G A intron_variant MELA-AU 21 43848841 43848841 single base substitution G A intron_variant MELA-AU 21 43849062 43849062 single base substitution G A intron_variant MELA-AU 21 43849446 43849446 single base substitution C T intron_variant MELA-AU 21 43849450 43849450 single base substitution C T intron_variant MELA-AU 21 43849475 43849475 single base substitution C T intron_variant MELA-AU 21 43849487 43849487 single base substitution C T intron_variant MELA-AU 21 43849817 43849817 single base substitution C T intron_variant MELA-AU 21 43849937 43849937 single base substitution C T intron_variant MELA-AU 21 43850298 43850298 single base substitution G A intron_variant MELA-AU 21 43850490 43850490 single base substitution G A intron_variant MELA-AU 21 43850569 43850569 single base substitution G A intron_variant MELA-AU 21 43850595 43850595 single base substitution C T intron_variant MELA-AU 21 43850688 43850688 single base substitution C T intron_variant MELA-AU 21 43850689 43850689 single base substitution C T intron_variant MELA-AU 21 43850737 43850737 single base substitution G A intron_variant MELA-AU 21 43850924 43850924 single base substitution G A intron_variant MELA-AU 21 43850965 43850965 single base substitution C T intron_variant MELA-AU 21 43851122 43851122 single base substitution C T intron_variant MELA-AU 21 43851227 43851227 single base substitution C T intron_variant MELA-AU 21 43851389 43851389 single base substitution G A intron_variant MELA-AU 21 43851420 43851421 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 21 43851683 43851683 single base substitution G A intron_variant MELA-AU 21 43851766 43851766 single base substitution C T intron_variant MELA-AU 21 43851875 43851875 single base substitution G A intron_variant MELA-AU 21 43852099 43852099 single base substitution G A intron_variant MELA-AU 21 43852402 43852402 single base substitution C T intron_variant MELA-AU 21 43852526 43852526 single base substitution A G intron_variant MELA-AU 21 43853086 43853086 single base substitution C T intron_variant MELA-AU 21 43853119 43853119 single base substitution G A intron_variant MELA-AU 21 43853154 43853154 single base substitution G A intron_variant MELA-AU 21 43853290 43853290 single base substitution C T intron_variant MELA-AU 21 43853300 43853301 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 43853449 43853449 single base substitution G A intron_variant MELA-AU 21 43853468 43853468 single base substitution G A intron_variant MELA-AU 21 43853556 43853556 single base substitution C T intron_variant MELA-AU 21 43853678 43853678 single base substitution G A intron_variant MELA-AU 21 43853848 43853848 single base substitution C T intron_variant MELA-AU 21 43853899 43853899 single base substitution G A intron_variant MELA-AU 21 43854064 43854064 single base substitution G A intron_variant MELA-AU 21 43854251 43854251 single base substitution G A intron_variant MELA-AU 21 43854272 43854272 single base substitution C T intron_variant MELA-AU 21 43854467 43854467 single base substitution G A intron_variant MELA-AU 21 43854990 43854990 single base substitution G A exon_variant MELA-AU 21 43854990 43854990 single base substitution G A missense_variant R402Q 1205G>A MELA-AU 21 43854990 43854990 single base substitution G A missense_variant R440Q 1319G>A MELA-AU 21 43855142 43855142 single base substitution G A exon_variant MELA-AU 21 43855142 43855142 single base substitution G A intron_variant MELA-AU 21 43855196 43855196 single base substitution G A exon_variant MELA-AU 21 43855196 43855196 single base substitution G A intron_variant MELA-AU 21 43855267 43855267 single base substitution T G exon_variant MELA-AU 21 43855267 43855267 single base substitution T G intron_variant MELA-AU 21 43855345 43855345 single base substitution T A exon_variant MELA-AU 21 43855345 43855345 single base substitution T A intron_variant MELA-AU 21 43855396 43855396 single base substitution C T exon_variant MELA-AU 21 43855396 43855396 single base substitution C T intron_variant MELA-AU 21 43855497 43855497 single base substitution G A exon_variant MELA-AU 21 43855497 43855497 single base substitution G A intron_variant MELA-AU 21 43855533 43855533 single base substitution C T exon_variant MELA-AU 21 43855533 43855533 single base substitution C T intron_variant MELA-AU 21 43855546 43855546 single base substitution C T exon_variant MELA-AU 21 43855546 43855546 single base substitution C T intron_variant MELA-AU 21 43855667 43855668 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 43855795 43855805 deletion of <=200bp GTTATAGAGTT - intron_variant MELA-AU 21 43856028 43856028 single base substitution G A intron_variant MELA-AU 21 43856124 43856124 single base substitution G A intron_variant MELA-AU 21 43856398 43856398 single base substitution G A intron_variant MELA-AU 21 43856470 43856470 single base substitution C T intron_variant MELA-AU 21 43856522 43856523 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 43856565 43856565 single base substitution C T intron_variant MELA-AU 21 43856604 43856604 single base substitution C T intron_variant MELA-AU 21 43856605 43856605 single base substitution C T intron_variant MELA-AU 21 43856661 43856661 single base substitution G A intron_variant MELA-AU 21 43856737 43856737 single base substitution G A intron_variant MELA-AU 21 43856762 43856762 single base substitution G T intron_variant MELA-AU 21 43856778 43856778 single base substitution C T intron_variant MELA-AU 21 43856892 43856892 single base substitution G A intron_variant MELA-AU 21 43856919 43856919 single base substitution C T intron_variant MELA-AU 21 43857423 43857423 single base substitution C T intron_variant MELA-AU 21 43857457 43857457 single base substitution C T intron_variant MELA-AU 21 43857481 43857481 single base substitution G A intron_variant MELA-AU 21 43857499 43857499 single base substitution C T intron_variant MELA-AU 21 43857588 43857588 single base substitution T C intron_variant MELA-AU 21 43857629 43857629 single base substitution C T intron_variant MELA-AU 21 43857629 43857629 single base substitution C T synonymous_variant I437I 1311C>T MELA-AU 21 43857629 43857629 single base substitution C T synonymous_variant I475I 1425C>T MELA-AU 21 43857750 43857750 single base substitution G A intron_variant MELA-AU 21 43857949 43857949 single base substitution C T intron_variant MELA-AU 21 43858095 43858095 single base substitution C T intron_variant MELA-AU 21 43858239 43858239 single base substitution C T intron_variant MELA-AU 21 43858257 43858257 single base substitution G A intron_variant MELA-AU 21 43858287 43858287 single base substitution G A intron_variant MELA-AU 21 43858469 43858470 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 43858648 43858648 single base substitution G A intron_variant MELA-AU 21 43859214 43859214 single base substitution C T intron_variant MELA-AU 21 43859668 43859668 single base substitution G A intron_variant MELA-AU 21 43860162 43860162 single base substitution C T intron_variant MELA-AU 21 43860272 43860272 single base substitution C T intron_variant MELA-AU 21 43860616 43860616 single base substitution C T intron_variant MELA-AU 21 43860627 43860627 single base substitution C T intron_variant MELA-AU 21 43860989 43860989 single base substitution T C intron_variant MELA-AU 21 43861173 43861173 single base substitution G A intron_variant MELA-AU 21 43861373 43861373 single base substitution C T intron_variant MELA-AU 21 43861418 43861418 single base substitution G A intron_variant MELA-AU 21 43861493 43861493 single base substitution G A intron_variant MELA-AU 21 43861505 43861505 single base substitution G A intron_variant MELA-AU 21 43861516 43861516 single base substitution G T intron_variant MELA-AU 21 43861566 43861567 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 43861796 43861796 single base substitution G A intron_variant MELA-AU 21 43861992 43861992 single base substitution G A intron_variant MELA-AU 21 43862210 43862210 single base substitution G A intron_variant MELA-AU 21 43862347 43862347 single base substitution C T intron_variant MELA-AU 21 43862354 43862354 single base substitution T C intron_variant MELA-AU 21 43862608 43862608 single base substitution C T exon_variant MELA-AU 21 43862608 43862608 single base substitution C T synonymous_variant I473I 1419C>T MELA-AU 21 43862608 43862608 single base substitution C T synonymous_variant I511I 1533C>T MELA-AU 21 43862824 43862824 single base substitution G A intron_variant MELA-AU 21 43862870 43862870 single base substitution G A intron_variant MELA-AU 21 43862879 43862879 single base substitution G A intron_variant MELA-AU 21 43863022 43863022 single base substitution G A intron_variant MELA-AU 21 43863128 43863128 single base substitution C T intron_variant MELA-AU 21 43863376 43863376 single base substitution C T intron_variant MELA-AU 21 43863433 43863433 single base substitution C T exon_variant MELA-AU 21 43863433 43863433 single base substitution C T intron_variant MELA-AU 21 43863433 43863433 single base substitution C T missense_variant P510L 1529C>T MELA-AU 21 43863433 43863433 single base substitution C T missense_variant P548L 1643C>T MELA-AU 21 43863506 43863506 single base substitution C T exon_variant MELA-AU 21 43863506 43863506 single base substitution C T intron_variant MELA-AU 21 43863506 43863506 single base substitution C T synonymous_variant I534I 1602C>T MELA-AU 21 43863506 43863506 single base substitution C T synonymous_variant I572I 1716C>T MELA-AU 21 43863974 43863974 single base substitution G A intron_variant MELA-AU 21 43864075 43864075 single base substitution C T intron_variant MELA-AU 21 43864091 43864091 single base substitution C T intron_variant MELA-AU 21 43864195 43864195 single base substitution G A intron_variant MELA-AU 21 43864238 43864238 single base substitution C T intron_variant MELA-AU 21 43864393 43864393 single base substitution G T intron_variant MELA-AU 21 43864538 43864539 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 43864749 43864749 single base substitution G A exon_variant MELA-AU 21 43864749 43864749 single base substitution G A intron_variant MELA-AU 21 43864749 43864749 single base substitution G A missense_variant R577K 1730G>A MELA-AU 21 43864749 43864749 single base substitution G A missense_variant R615K 1844G>A MELA-AU 21 43864968 43864968 single base substitution C T intron_variant MELA-AU 21 43864978 43864978 single base substitution A G intron_variant MELA-AU 21 43865009 43865009 single base substitution C T intron_variant MELA-AU 21 43865070 43865070 single base substitution G A intron_variant MELA-AU 21 43865181 43865181 single base substitution G A intron_variant MELA-AU 21 43865234 43865234 single base substitution C T intron_variant MELA-AU 21 43865319 43865319 single base substitution C T intron_variant MELA-AU 21 43865382 43865382 single base substitution C T intron_variant MELA-AU 21 43865386 43865386 single base substitution C T intron_variant MELA-AU 21 43865880 43865880 single base substitution C T intron_variant MELA-AU 21 43865942 43865942 single base substitution C T intron_variant MELA-AU 21 43865998 43865998 single base substitution C T intron_variant MELA-AU 21 43866418 43866418 single base substitution G A intron_variant MELA-AU 21 43866463 43866463 single base substitution C A intron_variant MELA-AU 21 43866625 43866625 single base substitution G A intron_variant MELA-AU 21 43866957 43866957 single base substitution C T intron_variant MELA-AU 21 43867102 43867102 single base substitution G A intron_variant MELA-AU 21 43867134 43867134 single base substitution G A intron_variant MELA-AU 21 43867213 43867213 single base substitution G A exon_variant MELA-AU 21 43867213 43867213 single base substitution G A missense_variant E522K 1564G>A MELA-AU 21 43867213 43867213 single base substitution G A missense_variant G594E 1781G>A MELA-AU 21 43867213 43867213 single base substitution G A missense_variant G632E 1895G>A MELA-AU 21 43867476 43867476 single base substitution A G 3_prime_UTR_variant MELA-AU 21 43867476 43867476 single base substitution A G downstream_gene_variant MELA-AU 21 43867476 43867476 single base substitution A G exon_variant MELA-AU 21 43867662 43867662 single base substitution C T 3_prime_UTR_variant MELA-AU 21 43867662 43867662 single base substitution C T downstream_gene_variant MELA-AU 21 43868001 43868001 single base substitution T A downstream_gene_variant MELA-AU 21 43868120 43868120 single base substitution A G downstream_gene_variant MELA-AU 21 43868204 43868204 single base substitution C A downstream_gene_variant MELA-AU 21 43868565 43868565 single base substitution G A downstream_gene_variant MELA-AU 21 43868638 43868638 single base substitution G A downstream_gene_variant MELA-AU 21 43868799 43868800 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 21 43868806 43868806 single base substitution G A downstream_gene_variant MELA-AU 21 43868917 43868917 single base substitution C T downstream_gene_variant MELA-AU 21 43869006 43869006 single base substitution C A downstream_gene_variant MELA-AU 21 43869522 43869522 single base substitution G A downstream_gene_variant MELA-AU 21 43869858 43869858 single base substitution G A downstream_gene_variant MELA-AU 21 43870137 43870137 single base substitution G A downstream_gene_variant MELA-AU 21 43870614 43870614 single base substitution C T downstream_gene_variant MELA-AU 21 43871094 43871094 single base substitution G A downstream_gene_variant MELA-AU 21 43871261 43871261 single base substitution G A downstream_gene_variant MELA-AU 21 43871349 43871349 single base substitution A C downstream_gene_variant MELA-AU 21 43871444 43871444 single base substitution C T downstream_gene_variant MELA-AU 21 43871469 43871469 single base substitution T C downstream_gene_variant MELA-AU 21 43871893 43871893 single base substitution G A downstream_gene_variant MELA-AU 21 43872304 43872304 single base substitution C T downstream_gene_variant MELA-AU 21 43872401 43872401 single base substitution C T downstream_gene_variant MELA-AU 21 43872438 43872438 single base substitution C T downstream_gene_variant MELA-AU 21 43872523 43872523 single base substitution C T downstream_gene_variant MELA-AU 21 43872631 43872631 single base substitution C T downstream_gene_variant MELA-AU 21 43872698 43872698 single base substitution C T downstream_gene_variant MELA-AU 21 43872741 43872741 single base substitution T C downstream_gene_variant ORCA-IN 21 43826450 43826450 single base substitution G A exon_variant ORCA-IN 21 43826450 43826450 single base substitution G A synonymous_variant T49T 147G>A ORCA-IN 21 43836565 43836565 single base substitution C T exon_variant ORCA-IN 21 43836565 43836565 single base substitution C T missense_variant P190S 568C>T ORCA-IN 21 43836565 43836565 single base substitution C T missense_variant P228S 682C>T ORCA-IN 21 43836605 43836605 single base substitution T C exon_variant ORCA-IN 21 43836605 43836605 single base substitution T C missense_variant F203S 608T>C ORCA-IN 21 43836605 43836605 single base substitution T C missense_variant F241S 722T>C ORCA-IN 21 43836671 43836671 single base substitution A G exon_variant ORCA-IN 21 43836671 43836671 single base substitution A G missense_variant Q225R 674A>G ORCA-IN 21 43836671 43836671 single base substitution A G missense_variant Q263R 788A>G OV-AU 21 43824675 43824675 single base substitution G A intron_variant OV-AU 21 43826590 43826590 single base substitution C G intron_variant OV-AU 21 43826655 43826655 single base substitution G T intron_variant OV-AU 21 43829875 43829875 single base substitution C A intron_variant OV-AU 21 43833496 43833496 single base substitution T G downstream_gene_variant OV-AU 21 43833496 43833496 single base substitution T G intron_variant OV-AU 21 43835528 43835528 single base substitution G A downstream_gene_variant OV-AU 21 43835528 43835528 single base substitution G A intron_variant OV-AU 21 43836531 43836531 single base substitution G A intron_variant OV-AU 21 43837766 43837766 single base substitution G C intron_variant OV-AU 21 43846745 43846745 single base substitution G C intron_variant OV-AU 21 43851306 43851306 single base substitution A G intron_variant OV-AU 21 43855600 43855600 single base substitution G A exon_variant OV-AU 21 43855600 43855600 single base substitution G A intron_variant OV-AU 21 43856489 43856489 single base substitution T C intron_variant OV-AU 21 43857619 43857619 single base substitution G T intron_variant OV-AU 21 43857619 43857619 single base substitution G T missense_variant G434V 1301G>T OV-AU 21 43857619 43857619 single base substitution G T missense_variant G472V 1415G>T OV-AU 21 43866081 43866081 single base substitution C G intron_variant OV-AU 21 43870483 43870483 single base substitution G A downstream_gene_variant OV-AU 21 43871769 43871769 single base substitution C T downstream_gene_variant OV-AU 21 43872392 43872392 single base substitution C G downstream_gene_variant OV-US 21 43838668 43838668 single base substitution G A exon_variant OV-US 21 43838668 43838668 single base substitution G A synonymous_variant P294P 882G>A OV-US 21 43838668 43838668 single base substitution G A synonymous_variant P332P 996G>A OV-US 21 43867232 43867232 single base substitution C G 3_prime_UTR_variant OV-US 21 43867232 43867232 single base substitution C G exon_variant OV-US 21 43867232 43867232 single base substitution C G missense_variant N600K 1800C>G OV-US 21 43867232 43867232 single base substitution C G missense_variant N638K 1914C>G PACA-AU 21 43819910 43819910 single base substitution G A upstream_gene_variant PACA-AU 21 43820242 43820242 single base substitution G T upstream_gene_variant PACA-AU 21 43824227 43824227 single base substitution C T intron_variant PACA-AU 21 43828436 43828436 single base substitution T C intron_variant PACA-AU 21 43831392 43831392 single base substitution A G downstream_gene_variant PACA-AU 21 43831392 43831392 single base substitution A G intron_variant PACA-AU 21 43838668 43838668 single base substitution G A exon_variant PACA-AU 21 43838668 43838668 single base substitution G A synonymous_variant P294P 882G>A PACA-AU 21 43838668 43838668 single base substitution G A synonymous_variant P332P 996G>A PACA-AU 21 43841942 43841942 single base substitution T C intron_variant PACA-AU 21 43842530 43842530 insertion of <=200bp - C intron_variant PACA-AU 21 43843852 43843852 single base substitution A C intron_variant PACA-AU 21 43846711 43846711 single base substitution G A intron_variant PACA-AU 21 43853362 43853362 single base substitution C A intron_variant PACA-AU 21 43860878 43860878 single base substitution C T intron_variant PACA-AU 21 43871664 43871664 single base substitution C T downstream_gene_variant PACA-AU 21 43871776 43871776 single base substitution G A downstream_gene_variant PACA-CA 21 43821698 43821698 single base substitution C A upstream_gene_variant PACA-CA 21 43824122 43824122 single base substitution C T exon_variant PACA-CA 21 43824122 43824122 single base substitution C T missense_variant S23L 68C>T PACA-CA 21 43826451 43826451 single base substitution G T exon_variant PACA-CA 21 43826451 43826451 single base substitution G T missense_variant A50S 148G>T PACA-CA 21 43828037 43828037 single base substitution G A intron_variant PACA-CA 21 43828233 43828233 single base substitution G T intron_variant PACA-CA 21 43829425 43829425 single base substitution C T intron_variant PACA-CA 21 43830905 43830908 deletion of <=200bp AGAT - downstream_gene_variant PACA-CA 21 43830905 43830908 deletion of <=200bp AGAT - intron_variant PACA-CA 21 43831253 43831253 single base substitution A G downstream_gene_variant PACA-CA 21 43831253 43831253 single base substitution A G intron_variant PACA-CA 21 43832454 43832454 single base substitution C A downstream_gene_variant PACA-CA 21 43832454 43832454 single base substitution C A intron_variant PACA-CA 21 43833755 43833755 single base substitution G A downstream_gene_variant PACA-CA 21 43833755 43833755 single base substitution G A intron_variant PACA-CA 21 43834864 43834864 single base substitution G A downstream_gene_variant PACA-CA 21 43834864 43834864 single base substitution G A intron_variant PACA-CA 21 43841318 43841318 single base substitution A G intron_variant PACA-CA 21 43841461 43841461 single base substitution C A intron_variant PACA-CA 21 43842713 43842713 single base substitution A T intron_variant PACA-CA 21 43843894 43843894 single base substitution T A intron_variant PACA-CA 21 43847227 43847227 single base substitution A G intron_variant PACA-CA 21 43848201 43848201 single base substitution C T intron_variant PACA-CA 21 43848607 43848607 single base substitution T A intron_variant PACA-CA 21 43850280 43850280 single base substitution T C intron_variant PACA-CA 21 43853487 43853487 single base substitution C T intron_variant PACA-CA 21 43853583 43853583 single base substitution T C intron_variant PACA-CA 21 43855669 43855669 single base substitution G A intron_variant PACA-CA 21 43857244 43857244 single base substitution T A intron_variant PACA-CA 21 43859555 43859555 single base substitution C T intron_variant PACA-CA 21 43861072 43861072 single base substitution G A intron_variant PACA-CA 21 43863476 43863487 deletion of <=200bp GGACAGGTGCAC - exon_variant PACA-CA 21 43863476 43863487 deletion of <=200bp GGACAGGTGCAC - inframe_deletion MDRCT524M PACA-CA 21 43863476 43863487 deletion of <=200bp GGACAGGTGCAC - inframe_deletion MDRCT562M PACA-CA 21 43863476 43863487 deletion of <=200bp GGACAGGTGCAC - intron_variant PACA-CA 21 43864692 43864692 single base substitution C T exon_variant PACA-CA 21 43864692 43864692 single base substitution C T intron_variant PACA-CA 21 43864692 43864692 single base substitution C T missense_variant T558M 1673C>T PACA-CA 21 43864692 43864692 single base substitution C T missense_variant T596M 1787C>T PACA-CA 21 43867311 43867311 single base substitution C T 3_prime_UTR_variant PACA-CA 21 43867311 43867311 single base substitution C T exon_variant PACA-CA 21 43871508 43871508 single base substitution G C downstream_gene_variant PAEN-IT 21 43855629 43855629 single base substitution G A intron_variant PBCA-DE 21 43826525 43826525 single base substitution C A intron_variant PBCA-DE 21 43830234 43830234 single base substitution G A intron_variant PBCA-DE 21 43830234 43830234 single base substitution G A missense_variant V122I 364G>A PBCA-DE 21 43830888 43830889 deletion of <=200bp CA - downstream_gene_variant PBCA-DE 21 43830888 43830889 deletion of <=200bp CA - intron_variant PBCA-DE 21 43848661 43848661 single base substitution C A intron_variant PBCA-DE 21 43852204 43852204 deletion of <=200bp C - splice_region_variant PBCA-DE 21 43856046 43856046 single base substitution G A intron_variant PBCA-DE 21 43858495 43858495 single base substitution G A intron_variant PBCA-DE 21 43859088 43859088 single base substitution T A intron_variant PBCA-DE 21 43859114 43859114 single base substitution G A intron_variant PBCA-DE 21 43860242 43860242 single base substitution G T intron_variant PBCA-DE 21 43870531 43870531 single base substitution G A downstream_gene_variant PBCA-DE 21 43871934 43871934 insertion of <=200bp - A downstream_gene_variant PRAD-CA 21 43825933 43825933 single base substitution G A intron_variant PRAD-UK 21 43834974 43834974 single base substitution C T downstream_gene_variant PRAD-UK 21 43834974 43834974 single base substitution C T intron_variant PRAD-UK 21 43846174 43846174 single base substitution G A intron_variant PRAD-UK 21 43851697 43851697 single base substitution C T intron_variant PRAD-UK 21 43861369 43861369 single base substitution A G intron_variant PRAD-US 21 43829625 43829625 single base substitution C T exon_variant PRAD-US 21 43829625 43829625 single base substitution C T missense_variant L88F 262C>T RECA-EU 21 43825523 43825523 single base substitution A T intron_variant RECA-EU 21 43838032 43838032 single base substitution C T intron_variant RECA-EU 21 43838483 43838483 single base substitution C T intron_variant RECA-EU 21 43840267 43840267 single base substitution T A intron_variant RECA-EU 21 43840277 43840277 single base substitution A C intron_variant RECA-EU 21 43843617 43843617 single base substitution A G intron_variant SKCA-BR 21 43820267 43820267 single base substitution C T upstream_gene_variant SKCA-BR 21 43821907 43821908 deletion of <=200bp GA - upstream_gene_variant SKCA-BR 21 43822207 43822207 insertion of <=200bp - GAA upstream_gene_variant SKCA-BR 21 43822381 43822381 single base substitution G A upstream_gene_variant SKCA-BR 21 43822483 43822483 single base substitution C T upstream_gene_variant SKCA-BR 21 43822484 43822484 single base substitution T C upstream_gene_variant SKCA-BR 21 43823339 43823339 single base substitution A C upstream_gene_variant SKCA-BR 21 43824493 43824494 deletion of <=200bp AT - intron_variant SKCA-BR 21 43824619 43824619 single base substitution C T intron_variant SKCA-BR 21 43827293 43827293 single base substitution C T intron_variant SKCA-BR 21 43828193 43828193 single base substitution G A intron_variant SKCA-BR 21 43828842 43828842 single base substitution C T intron_variant SKCA-BR 21 43828999 43828999 insertion of <=200bp - ATATAAAAT intron_variant SKCA-BR 21 43829631 43829631 single base substitution G A exon_variant SKCA-BR 21 43829631 43829631 single base substitution G A missense_variant E90K 268G>A SKCA-BR 21 43830214 43830214 single base substitution C T intron_variant SKCA-BR 21 43830515 43830515 single base substitution G A 3_prime_UTR_variant SKCA-BR 21 43830515 43830515 single base substitution G A intron_variant SKCA-BR 21 43831987 43831987 single base substitution G A downstream_gene_variant SKCA-BR 21 43831987 43831987 single base substitution G A intron_variant SKCA-BR 21 43834664 43834664 single base substitution G A downstream_gene_variant SKCA-BR 21 43834664 43834664 single base substitution G A intron_variant SKCA-BR 21 43835608 43835608 single base substitution G A downstream_gene_variant SKCA-BR 21 43835608 43835608 single base substitution G A intron_variant SKCA-BR 21 43838684 43838684 single base substitution C T exon_variant SKCA-BR 21 43838684 43838684 single base substitution C T stop_gained R300* 898C>T SKCA-BR 21 43838684 43838684 single base substitution C T stop_gained R338* 1012C>T SKCA-BR 21 43841243 43841243 single base substitution C T intron_variant SKCA-BR 21 43841630 43841630 single base substitution C T intron_variant SKCA-BR 21 43841684 43841684 single base substitution C T intron_variant SKCA-BR 21 43842274 43842274 single base substitution C T intron_variant SKCA-BR 21 43842878 43842878 single base substitution G A intron_variant SKCA-BR 21 43844140 43844140 single base substitution C T intron_variant SKCA-BR 21 43845423 43845423 single base substitution T G intron_variant SKCA-BR 21 43846333 43846333 single base substitution G A intron_variant SKCA-BR 21 43847707 43847707 single base substitution G A intron_variant SKCA-BR 21 43848025 43848025 single base substitution C T intron_variant SKCA-BR 21 43848515 43848515 single base substitution A T intron_variant SKCA-BR 21 43850682 43850682 single base substitution C T intron_variant SKCA-BR 21 43852251 43852251 single base substitution G A exon_variant SKCA-BR 21 43852251 43852251 single base substitution G A missense_variant G366R 1096G>A SKCA-BR 21 43852251 43852251 single base substitution G A missense_variant G404R 1210G>A SKCA-BR 21 43854058 43854058 single base substitution G T intron_variant SKCA-BR 21 43854943 43854943 single base substitution G A splice_region_variant SKCA-BR 21 43855246 43855246 single base substitution G T exon_variant SKCA-BR 21 43855246 43855246 single base substitution G T intron_variant SKCA-BR 21 43856082 43856082 single base substitution A G intron_variant SKCA-BR 21 43856091 43856097 deletion of <=200bp TTAGTTA - intron_variant SKCA-BR 21 43856122 43856122 insertion of <=200bp - TAGAGTTAGAGTTATAGAGTCATAGAGTTAC intron_variant SKCA-BR 21 43858499 43858499 single base substitution G A intron_variant SKCA-BR 21 43864708 43864708 single base substitution G A exon_variant SKCA-BR 21 43864708 43864708 single base substitution G A intron_variant SKCA-BR 21 43864708 43864708 single base substitution G A synonymous_variant G563G 1689G>A SKCA-BR 21 43864708 43864708 single base substitution G A synonymous_variant G601G 1803G>A SKCA-BR 21 43864772 43864772 single base substitution C T intron_variant SKCA-BR 21 43865325 43865325 single base substitution C T intron_variant SKCA-BR 21 43865675 43865675 single base substitution T A intron_variant SKCA-BR 21 43866598 43866598 single base substitution G A intron_variant SKCA-BR 21 43867809 43867809 single base substitution C T downstream_gene_variant SKCA-BR 21 43868243 43868243 single base substitution T C downstream_gene_variant SKCA-BR 21 43869032 43869032 single base substitution C T downstream_gene_variant SKCA-BR 21 43869578 43869578 single base substitution G A downstream_gene_variant SKCA-BR 21 43869966 43869966 single base substitution C T downstream_gene_variant SKCA-BR 21 43872463 43872463 single base substitution G A downstream_gene_variant SKCA-BR 21 43872524 43872524 single base substitution C T downstream_gene_variant SKCM-US 21 43829558 43829558 single base substitution C T exon_variant SKCM-US 21 43829558 43829558 single base substitution C T synonymous_variant S65S 195C>T SKCM-US 21 43833249 43833249 single base substitution C T downstream_gene_variant SKCM-US 21 43833249 43833249 single base substitution C T exon_variant SKCM-US 21 43833249 43833249 single base substitution C T synonymous_variant L157L 471C>T SKCM-US 21 43833312 43833312 single base substitution G A downstream_gene_variant SKCM-US 21 43833312 43833312 single base substitution G A exon_variant SKCM-US 21 43833312 43833312 single base substitution G A synonymous_variant T178T 534G>A SKCM-US 21 43833320 43833320 single base substitution C T downstream_gene_variant SKCM-US 21 43833320 43833320 single base substitution C T exon_variant SKCM-US 21 43833320 43833320 single base substitution C T missense_variant S181F 542C>T SKCM-US 21 43833575 43833575 single base substitution C T downstream_gene_variant SKCM-US 21 43833575 43833575 single base substitution C T intron_variant SKCM-US 21 43833575 43833575 single base substitution C T synonymous_variant L204L 610C>T SKCM-US 21 43833612 43833612 single base substitution G A downstream_gene_variant SKCM-US 21 43833612 43833612 single base substitution G A intron_variant SKCM-US 21 43833612 43833612 single base substitution G A missense_variant S216N 647G>A SKCM-US 21 43838513 43838513 single base substitution C T exon_variant SKCM-US 21 43838513 43838513 single base substitution C T synonymous_variant L243L 727C>T SKCM-US 21 43838513 43838513 single base substitution C T synonymous_variant L281L 841C>T SKCM-US 21 43838527 43838527 single base substitution C T exon_variant SKCM-US 21 43838527 43838527 single base substitution C T synonymous_variant F247F 741C>T SKCM-US 21 43838527 43838527 single base substitution C T synonymous_variant F285F 855C>T SKCM-US 21 43838632 43838632 single base substitution G A exon_variant SKCM-US 21 43838632 43838632 single base substitution G A synonymous_variant G282G 846G>A SKCM-US 21 43838632 43838632 single base substitution G A synonymous_variant G320G 960G>A SKCM-US 21 43838665 43838665 single base substitution G A exon_variant SKCM-US 21 43838665 43838665 single base substitution G A synonymous_variant L293L 879G>A SKCM-US 21 43838665 43838665 single base substitution G A synonymous_variant L331L 993G>A SKCM-US 21 43846841 43846841 single base substitution C T exon_variant SKCM-US 21 43846841 43846841 single base substitution C T missense_variant S323F 968C>T SKCM-US 21 43846841 43846841 single base substitution C T missense_variant S361F 1082C>T SKCM-US 21 43855000 43855000 single base substitution G A exon_variant SKCM-US 21 43855000 43855000 single base substitution G A synonymous_variant G405G 1215G>A SKCM-US 21 43855000 43855000 single base substitution G A synonymous_variant G443G 1329G>A SKCM-US 21 43855019 43855019 single base substitution G A exon_variant SKCM-US 21 43855019 43855019 single base substitution G A missense_variant D412N 1234G>A SKCM-US 21 43855019 43855019 single base substitution G A missense_variant D450N 1348G>A SKCM-US 21 43857599 43857599 single base substitution G A intron_variant SKCM-US 21 43857599 43857599 single base substitution G A splice_region_variant SKCM-US 21 43862599 43862599 single base substitution A G exon_variant SKCM-US 21 43862599 43862599 single base substitution A G synonymous_variant E470E 1410A>G SKCM-US 21 43862599 43862599 single base substitution A G synonymous_variant E508E 1524A>G SKCM-US 21 43862610 43862610 single base substitution T G exon_variant SKCM-US 21 43862610 43862610 single base substitution T G missense_variant F474C 1421T>G SKCM-US 21 43862610 43862610 single base substitution T G missense_variant F512C 1535T>G SKCM-US 21 43863433 43863433 single base substitution C T exon_variant SKCM-US 21 43863433 43863433 single base substitution C T intron_variant SKCM-US 21 43863433 43863433 single base substitution C T missense_variant P510L 1529C>T SKCM-US 21 43863433 43863433 single base substitution C T missense_variant P548L 1643C>T SKCM-US 21 43863490 43863490 single base substitution C T exon_variant SKCM-US 21 43863490 43863490 single base substitution C T intron_variant SKCM-US 21 43863490 43863490 single base substitution C T missense_variant A529V 1586C>T SKCM-US 21 43863490 43863490 single base substitution C T missense_variant A567V 1700C>T SKCM-US 21 43864686 43864686 single base substitution C T exon_variant SKCM-US 21 43864686 43864686 single base substitution C T intron_variant SKCM-US 21 43864686 43864686 single base substitution C T missense_variant S556F 1667C>T SKCM-US 21 43864686 43864686 single base substitution C T missense_variant S594F 1781C>T SKCM-US 21 43864730 43864730 single base substitution G A exon_variant SKCM-US 21 43864730 43864730 single base substitution G A intron_variant SKCM-US 21 43864730 43864730 single base substitution G A missense_variant D571N 1711G>A SKCM-US 21 43864730 43864730 single base substitution G A missense_variant D609N 1825G>A SKCM-US 21 43864744 43864744 single base substitution C T exon_variant SKCM-US 21 43864744 43864744 single base substitution C T intron_variant SKCM-US 21 43864744 43864744 single base substitution C T synonymous_variant L575L 1725C>T SKCM-US 21 43864744 43864744 single base substitution C T synonymous_variant L613L 1839C>T STAD-US 21 43829575 43829575 single base substitution C A exon_variant STAD-US 21 43829575 43829575 single base substitution C A missense_variant P71H 212C>A STAD-US 21 43833294 43833294 single base substitution C T downstream_gene_variant STAD-US 21 43833294 43833294 single base substitution C T exon_variant STAD-US 21 43833294 43833294 single base substitution C T synonymous_variant F172F 516C>T STAD-US 21 43836627 43836627 single base substitution G A exon_variant STAD-US 21 43836627 43836627 single base substitution G A synonymous_variant T210T 630G>A STAD-US 21 43836627 43836627 single base substitution G A synonymous_variant T248T 744G>A STAD-US 21 43857605 43857605 single base substitution G A intron_variant STAD-US 21 43857605 43857605 single base substitution G A synonymous_variant A429A 1287G>A STAD-US 21 43857605 43857605 single base substitution G A synonymous_variant A467A 1401G>A STAD-US 21 43862610 43862610 single base substitution T G exon_variant STAD-US 21 43862610 43862610 single base substitution T G missense_variant F474C 1421T>G STAD-US 21 43862610 43862610 single base substitution T G missense_variant F512C 1535T>G STAD-US 21 43863426 43863426 single base substitution G A exon_variant STAD-US 21 43863426 43863426 single base substitution G A intron_variant STAD-US 21 43863426 43863426 single base substitution G A missense_variant A508T 1522G>A STAD-US 21 43863426 43863426 single base substitution G A missense_variant A546T 1636G>A STAD-US 21 43863456 43863456 single base substitution G A exon_variant STAD-US 21 43863456 43863456 single base substitution G A intron_variant STAD-US 21 43863456 43863456 single base substitution G A missense_variant E518K 1552G>A STAD-US 21 43863456 43863456 single base substitution G A missense_variant E556K 1666G>A STAD-US 21 43864692 43864692 deletion of <=200bp C - exon_variant STAD-US 21 43864692 43864692 deletion of <=200bp C - frameshift_variant T558 STAD-US 21 43864692 43864692 deletion of <=200bp C - frameshift_variant T596 STAD-US 21 43864692 43864692 deletion of <=200bp C - intron_variant THCA-US 21 43838718 43838718 single base substitution G T missense_variant R311M 932G>T THCA-US 21 43838718 43838718 single base substitution G T missense_variant R349M 1046G>T THCA-US 21 43838718 43838718 single base substitution G T splice_region_variant UCEC-US 21 43829550 43829550 single base substitution G T exon_variant UCEC-US 21 43829550 43829550 single base substitution G T missense_variant D63Y 187G>T UCEC-US 21 43829626 43829626 single base substitution T C exon_variant UCEC-US 21 43829626 43829626 single base substitution T C missense_variant L88P 263T>C UCEC-US 21 43836555 43836555 single base substitution C T exon_variant UCEC-US 21 43836555 43836555 single base substitution C T synonymous_variant C186C 558C>T UCEC-US 21 43836555 43836555 single base substitution C T synonymous_variant C224C 672C>T UCEC-US 21 43838559 43838559 single base substitution C T exon_variant UCEC-US 21 43838559 43838559 single base substitution C T missense_variant T258M 773C>T UCEC-US 21 43838559 43838559 single base substitution C T missense_variant T296M 887C>T UCEC-US 21 43838560 43838560 single base substitution G A exon_variant UCEC-US 21 43838560 43838560 single base substitution G A synonymous_variant T258T 774G>A UCEC-US 21 43838560 43838560 single base substitution G A synonymous_variant T296T 888G>A UCEC-US 21 43838614 43838614 single base substitution C A exon_variant UCEC-US 21 43838614 43838614 single base substitution C A missense_variant S276R 828C>A UCEC-US 21 43838614 43838614 single base substitution C A missense_variant S314R 942C>A UCEC-US 21 43846885 43846885 single base substitution C A exon_variant UCEC-US 21 43846885 43846885 single base substitution C A missense_variant L338I 1012C>A UCEC-US 21 43846885 43846885 single base substitution C A missense_variant L376I 1126C>A UCEC-US 21 43852245 43852245 single base substitution C T exon_variant UCEC-US 21 43852245 43852245 single base substitution C T missense_variant R364C 1090C>T UCEC-US 21 43852245 43852245 single base substitution C T missense_variant R402C 1204C>T UCEC-US 21 43857602 43857602 single base substitution C T intron_variant UCEC-US 21 43857602 43857602 single base substitution C T synonymous_variant D428D 1284C>T UCEC-US 21 43857602 43857602 single base substitution C T synonymous_variant D466D 1398C>T UCEC-US 21 43857674 43857674 insertion of <=200bp - A exon_variant UCEC-US 21 43857674 43857674 insertion of <=200bp - A frameshift_variant A452A? UCEC-US 21 43857674 43857674 insertion of <=200bp - A frameshift_variant A490A? UCEC-US 21 43864670 43864670 single base substitution G A exon_variant UCEC-US 21 43864670 43864670 single base substitution G A intron_variant UCEC-US 21 43864670 43864670 single base substitution G A missense_variant G551S 1651G>A UCEC-US 21 43864670 43864670 single base substitution G A missense_variant G589S 1765G>A UCEC-US 21 43867197 43867197 single base substitution G T exon_variant UCEC-US 21 43867197 43867197 single base substitution G T missense_variant K516N 1548G>T UCEC-US 21 43867197 43867197 single base substitution G T stop_gained E589* 1765G>T UCEC-US 21 43867197 43867197 single base substitution G T stop_gained E627* 1879G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand BCM265T COSM4949947 c.553+1G>A p.? Unknown 21:42413223-42413223 + PT35 COSM5914379 c.167+3G>T p.? Unknown 21:42406364-42406364 + TCGA-BR-8683-01 COSM4101801 c.212C>A p.P71H Substitution - Missense 21:42409466-42409466 + C086 COSM5541260 c.1038G>A p.V346V Substitution - coding silent 21:42418601-42418601 + TCGA-B5-A0JY-01 COSM1031049 c.187G>T p.D63Y Substitution - Missense 21:42409441-42409441 + ESCC_165 COSM1714039 c.1013G>A p.R338Q Substitution - Missense 21:42418576-42418576 + TCGA-AG-A002-01 COSM264515 c.814G>T p.D272Y Substitution - Missense 21:42416588-42416588 + TCGA-FP-7916-01 COSM2819809 c.1401G>A p.A467A Substitution - coding silent 21:42437495-42437495 + sysucc-1317T COSM5449510 c.11G>A p.G4E Substitution - Missense 21:42403956-42403956 + 587220 COSM1231531 c.353C>T p.T118M Substitution - Missense 21:42409607-42409607 + TCGA-EE-A2GB-06 COSM3551184 c.1643C>T p.P548L Substitution - Missense 21:42443323-42443323 + CHC1040T COSM4799549 c.1099G>A p.A367T Substitution - Missense 21:42426749-42426749 + TCGA-AX-A0J1-01 COSM1031059 c.1765G>A p.G589S Substitution - Missense 21:42444560-42444560 + C086 COSM5541259 c.1396G>A p.D466N Substitution - Missense 21:42437490-42437490 + CSCC-38-T COSM4456457 c.100C>T p.P34S Substitution - Missense 21:42404045-42404045 + CHC892T COSM4960241 c.1089G>A p.K363K Substitution - coding silent 21:42426739-42426739 + HT115 COSM2819816 c.1619A>G p.D540G Substitution - Missense 21:42442584-42442584 + TCGA-EE-A2MR-06 COSM3912212 c.960G>A p.G320G Substitution - coding silent 21:42418523-42418523 + CHOL11 COSM1744675 c.1466C>T p.T489M Substitution - Missense 21:42437560-42437560 + TCGA-DB-A64V-01 COSM3972795 c.390G>A p.A130A Substitution - coding silent 21:42413059-42413059 + BCM265T COSM4949947 c.553+1G>A p.? Unknown 21:42413223-42413223 + CSCC-7-T COSM4500482 c.566C>T p.S189F Substitution - Missense 21:42413422-42413422 + Pat_46_B COSM5858697 c.137G>A p.G46E Substitution - Missense 21:42406331-42406331 + TCGA-BF-A1PX-01 COSM4905299 c.1395G>A p.G465G Substitution - coding silent 21:42437489-42437489 + P1 COSM1315764 c.1128T>C p.L376L Substitution - coding silent 21:42426778-42426778 + YUDAB COSM1714043 c.1887A>T p.K629N Substitution - Missense 21:42447095-42447095 + TCGA-BS-A0UV-01 COSM1031058 c.1470_1471insA p.L492fs*22 Insertion - Frameshift 21:42437564-42437565 + TCGA-13-0807-01 COSM76929 c.1914C>G p.N638K Substitution - Missense 21:42447122-42447122 + TCGA-AG-3892-01 COSM258306 c.934G>A p.E312K Substitution - Missense 21:42418497-42418497 + TCGA-EE-A2GH-06 COSM3551176 c.647G>A p.S216N Substitution - Missense 21:42413503-42413503 + 2293776 COSM4607812 c.453C>G p.H151Q Substitution - Missense 21:42413122-42413122 + TCGA-AP-A0LM-01 COSM1031050 c.263T>C p.L88P Substitution - Missense 21:42409517-42409517 + sysucc-1317T COSM5449511 c.1763A>G p.H588R Substitution - Missense 21:42444558-42444558 + BD124T COSM5494159 c.1790G>A p.R597Q Substitution - Missense 21:42444585-42444585 + 1_PRE-TREATMENT COSM1720891 c.770C>T p.P257L Substitution - Missense 21:42416544-42416544 + TCGA-AP-A059-01 COSM1031053 c.888G>A p.T296T Substitution - coding silent 21:42418451-42418451 + RK237_C01 COSM4779755 c.244G>T p.G82W Substitution - Missense 21:42409498-42409498 + T25 COSM5343761 c.1467G>A p.T489T Substitution - coding silent 21:42437561-42437561 + TCGA-DK-A1AC-01 COSM1307842 c.1971G>C p.W657C Substitution - Missense 21:42447179-42447179 + T521 COSM1307839 c.509G>A p.R170Q Substitution - Missense 21:42413178-42413178 + CSCC-44-T COSM4564887 c.150_151GG>AA p.E51K Substitution - Missense 21:42406344-42406345 + pfg311T COSM4753981 c.1224T>A p.D408E Substitution - Missense 21:42432156-42432156 + C086 COSM5541258 c.1089G>T p.K363N Substitution - Missense 21:42426739-42426739 + SNU-C4 COSM4615658 c.1078delA p.N360fs*72 Deletion - Frameshift 21:42426728-42426728 + TCGA-FD-A3SJ-01 COSM3799942 c.748G>C p.E250Q Substitution - Missense 21:42416522-42416522 + YUNACK COSM1714042 c.1686G>A p.M562I Substitution - Missense 21:42443366-42443366 + OSCC-GB_00330111 COSM3713417 c.682C>T p.P228S Substitution - Missense 21:42416456-42416456 + CSCC-41-T COSM3551184 c.1643C>T p.P548L Substitution - Missense 21:42443323-42443323 + TCGA-EE-A29E-06 COSM3551178 c.855C>T p.F285F Substitution - coding silent 21:42418418-42418418 + AOCS-034-3-8 COSM4137257 c.1415G>T p.G472V Substitution - Missense 21:42437509-42437509 + CSCC-62-T COSM4496691 c.480C>T p.F160F Substitution - coding silent 21:42413149-42413149 + I2L-P19Ta-Tumor-Biopsy COSM5366226 c.1370G>A p.G457D Substitution - Missense 21:42434931-42434931 + TCGA-DS-A0VK-01 COSM461342 c.1876G>A p.E626K Substitution - Missense 21:42447084-42447084 + T3202 COSM4738642 c.1184G>T p.R395M Substitution - Missense 21:42432116-42432116 + 2492700 COSM5600810 c.1271G>A p.G424E Substitution - Missense 21:42434832-42434832 + OSCC-GB_00380111 COSM3713418 c.722T>C p.F241S Substitution - Missense 21:42416496-42416496 + GB02 COSM1744676 c.69G>C p.S23S Substitution - coding silent 21:42404014-42404014 + TCGA-EE-A29D-06 COSM175220 c.1839C>T p.L613L Substitution - coding silent 21:42444634-42444634 + 587278 COSM1231532 c.974C>T p.T325M Substitution - Missense 21:42418537-42418537 + 1N05-VS-1T05 COSM4972873 c.995C>T p.P332L Substitution - Missense 21:42418558-42418558 + TCGA-G2-A3VY-01 COSM3799941 c.364C>G p.Q122E Substitution - Missense 21:42413033-42413033 + S00827 COSM316324 c.1591G>T p.E531* Substitution - Nonsense 21:42442556-42442556 + TCGA-AM-5821-01 COSM3758910 c.1191C>T p.S397S Substitution - coding silent 21:42432123-42432123 + CHC892T COSM4960241 c.1089G>A p.K363K Substitution - coding silent 21:42426739-42426739 + 1N33-VS-1T33 COSM4974619 c.1841T>C p.V614A Substitution - Missense 21:42444636-42444636 + PT21_2 COSM5902162 c.1487-4C>T p.? Unknown 21:42442448-42442448 + CHC892T COSM4960000 c.1915C>T p.P639S Substitution - Missense 21:42447123-42447123 + RKO COSM2819817 c.1626T>C p.D542D Substitution - coding silent 21:42442591-42442591 + YULAN COSM1714039 c.1013G>A p.R338Q Substitution - Missense 21:42418576-42418576 + YULAN COSM1714040 c.1219G>A p.V407M Substitution - Missense 21:42432151-42432151 + S00827 COSM316324 c.1591G>T p.E531* Substitution - Nonsense 21:42442556-42442556 + TCGA-C8-A26Y-01 COSM3841981 c.1570C>T p.P524S Substitution - Missense 21:42442535-42442535 + CRC-2 COSM304283 c.1888G>A p.E630K Substitution - Missense 21:42447096-42447096 + 2492714 COSM5719038 c.1053C>A p.Y351* Substitution - Nonsense 21:42426703-42426703 + OSCC-GB_00110111 COSM3713419 c.788A>G p.Q263R Substitution - Missense 21:42416562-42416562 + TCGA-D5-6927-01 COSM1414274 c.210delC p.Q72fs*40 Deletion - Frameshift 21:42409464-42409464 + OLID10 COSM132776 c.131C>T p.A44V Substitution - Missense 21:42406325-42406325 + YUDON COSM1031056 c.1204C>T p.R402C Substitution - Missense 21:42432136-42432136 + TCGA-H4-A2HQ-01 COSM1307839 c.509G>A p.R170Q Substitution - Missense 21:42413178-42413178 + OVCAR-5 COSM1682015 c.1398C>A p.D466E Substitution - Missense 21:42437492-42437492 + ESCC_BICR_036T COSM5432008 c.1210G>A p.G404R Substitution - Missense 21:42432142-42432142 + TCGA-A8-A086-01 COSM444534 c.533C>T p.T178M Substitution - Missense 21:42413202-42413202 + TCGA-06-0743-01 COSM3405430 c.1947C>T p.N649N Substitution - coding silent 21:42447155-42447155 + CSCC-20-T COSM4521631 c.1120G>A p.E374K Substitution - Missense 21:42426770-42426770 + S00936 COSM316325 c.309A>G p.R103R Substitution - coding silent 21:42409563-42409563 + CSCC-11-T COSM3551181 c.1348G>A p.D450N Substitution - Missense 21:42434909-42434909 + sysucc-692T COSM5763785 c.1731A>G p.P577P Substitution - coding silent 21:42443411-42443411 + HCC120 COSM3708078 c.900T>C p.G300G Substitution - coding silent 21:42418463-42418463 + I2L-P19Ta-Tumor-Organoid COSM5366226 c.1370G>A p.G457D Substitution - Missense 21:42434931-42434931 + TCGA-DK-A1AC-01 COSM1307843 c.1985G>T p.*662L Nonstop extension 21:42447193-42447193 + TCGA-BR-8363-01 COSM4101805 c.1666G>A p.E556K Substitution - Missense 21:42443346-42443346 + TCGA-EE-A3J8-06 COSM3551181 c.1348G>A p.D450N Substitution - Missense 21:42434909-42434909 + TCGA-AA-3956-01 COSM297155 c.1662G>A p.P554P Substitution - coding silent 21:42443342-42443342 + PTC-7C COSM4134962 c.1398C>G p.D466E Substitution - Missense 21:42437492-42437492 + 38T COSM3713418 c.722T>C p.F241S Substitution - Missense 21:42416496-42416496 + COLO320-DM COSM2819787 c.481G>A p.V161I Substitution - Missense 21:42413150-42413150 + TCGA-EE-A2GR-06 COSM3551177 c.841C>T p.L281L Substitution - coding silent 21:42418404-42418404 + PD18730a COSM5787181 c.1400C>T p.A467V Substitution - Missense 21:42437494-42437494 + PT48 COSM4521631 c.1120G>A p.E374K Substitution - Missense 21:42426770-42426770 + TCGA-24-1470-01 COSM81874 c.996G>A p.P332P Substitution - coding silent 21:42418559-42418559 + TCGA-G4-6309-01 COSM1414278 c.1423A>G p.I475V Substitution - Missense 21:42437517-42437517 + TCGA-AA-A010-01 COSM286227 c.1974C>A p.I658I Substitution - coding silent 21:42447182-42447182 + HCT116 COSM1682014 c.386A>T p.E129V Substitution - Missense 21:42413055-42413055 + TCGA-DK-A3IK-01 COSM1307841 c.1289A>T p.D430V Substitution - Missense 21:42434850-42434850 + TCGA-EE-A17X-06 COSM3551185 c.1700C>T p.A567V Substitution - Missense 21:42443380-42443380 + TCGA-HC-7077-01 COSM3673194 c.262C>T p.L88F Substitution - Missense 21:42409516-42409516 + 33T COSM3713417 c.682C>T p.P228S Substitution - Missense 21:42416456-42416456 + T3094 COSM2819784 c.434C>T p.A145V Substitution - Missense 21:42413103-42413103 + OSCC-GB_00970111 COSM2819771 c.147G>A p.T49T Substitution - coding silent 21:42406341-42406341 + TCGA-EB-A3XC-01 COSM3551181 c.1348G>A p.D450N Substitution - Missense 21:42434909-42434909 + TCGA-FS-A4FB-06 COSM3551183 c.1535T>G p.F512C Substitution - Missense 21:42442500-42442500 + sysucc-834T COSM5486180 c.1371C>T p.G457G Substitution - coding silent 21:42434932-42434932 + TCGA-EE-A2MD-06 COSM3551173 c.195C>T p.S65S Substitution - coding silent 21:42409449-42409449 + PCSI_0090_Pa_P COSM3379194 c.1787C>T p.T596M Substitution - Missense 21:42444582-42444582 + CSCC-27-T COSM4473483 c.1853C>T p.P618L Substitution - Missense 21:42447061-42447061 + TCGA-EB-A41A-01 COSM3551175 c.542C>T p.S181F Substitution - Missense 21:42413211-42413211 + TCGA-A8-A095-01 COSM444535 c.1491C>G p.L497L Substitution - coding silent 21:42442456-42442456 + TCGA-FP-A4BE-01 COSM4101804 c.1636G>A p.A546T Substitution - Missense 21:42443316-42443316 + YUROC COSM5392970 c.877G>A p.D293N Substitution - Missense 21:42418440-42418440 + TCGA-BS-A0UF-01 COSM1031060 c.1879G>T p.E627* Substitution - Nonsense 21:42447087-42447087 + AOCS-034-1-0 COSM4137257 c.1415G>T p.G472V Substitution - Missense 21:42437509-42437509 + PD11372a COSM5767152 c.1774C>G p.L592V Substitution - Missense 21:42444569-42444569 + YUAKER COSM1714041 c.1300C>T p.P434S Substitution - Missense 21:42434861-42434861 + HT115 COSM2819813 c.1529G>A p.G510E Substitution - Missense 21:42442494-42442494 + TCGA-G4-6588-01 COSM1414275 c.541_542delTC p.L183fs*20 Deletion - Frameshift 21:42413210-42413211 + LUAD-S01354 COSM385920 c.1738A>T p.T580S Substitution - Missense 21:42443418-42443418 + YUROG COSM5392973 c.1522G>A p.E508K Substitution - Missense 21:42442487-42442487 + PT25 COSM5905138 c.1972A>G p.I658V Substitution - Missense 21:42447180-42447180 + 2492702 COSM5600810 c.1271G>A p.G424E Substitution - Missense 21:42434832-42434832 + 11T COSM3713419 c.788A>G p.Q263R Substitution - Missense 21:42416562-42416562 + TCGA-DE-A2OL-01 COSM3371818 c.1046G>T p.R349M Substitution - Missense 21:42418609-42418609 + Pat_54_A COSM3551183 c.1535T>G p.F512C Substitution - Missense 21:42442500-42442500 + CHC892T COSM4960000 c.1915C>T p.P639S Substitution - Missense 21:42447123-42447123 + 2521259 COSM1720891 c.770C>T p.P257L Substitution - Missense 21:42416544-42416544 + LIM2405 COSM4642500 c.1305C>T p.C435C Substitution - coding silent 21:42434866-42434866 + T3033 COSM4738641 c.983G>A p.R328Q Substitution - Missense 21:42418546-42418546 + TCGA-D1-A167-01 COSM1031052 c.887C>T p.T296M Substitution - Missense 21:42418450-42418450 + HCT-116 COSM1682014 c.386A>T p.E129V Substitution - Missense 21:42413055-42413055 + SNU-175 COSM2819778 c.289C>T p.R97C Substitution - Missense 21:42409543-42409543 + LUAD-S01306 COSM343590 c.748G>T p.E250* Substitution - Nonsense 21:42416522-42416522 + YUMOBER COSM4101802 c.516C>T p.F172F Substitution - coding silent 21:42413185-42413185 + 478 COSM1744676 c.69G>C p.S23S Substitution - coding silent 21:42404014-42404014 + LUAD-QJN9L COSM342697 c.435C>T p.A145A Substitution - coding silent 21:42413104-42413104 + ESCC_BICR_042T COSM2819805 c.1233C>T p.F411F Substitution - coding silent 21:42432165-42432165 + HCC066T COSM5821300 c.1051T>A p.Y351N Substitution - Missense 21:42426701-42426701 + TCGA-EE-A3J7-06 COSM2819788 c.534G>A p.T178T Substitution - coding silent 21:42413203-42413203 + S02299 COSM5690584 c.392T>A p.L131Q Substitution - Missense 21:42413061-42413061 + 587282 COSM1231530 c.1808C>T p.P603L Substitution - Missense 21:42444603-42444603 + S01023 COSM5666618 c.676G>T p.V226L Substitution - Missense 21:42416450-42416450 + TCGA-BR-8680-01 COSM3551183 c.1535T>G p.F512C Substitution - Missense 21:42442500-42442500 + D01 COSM5544336 c.426C>T p.F142F Substitution - coding silent 21:42413095-42413095 + LIM2551 COSM4613954 c.9delG p.E5fs*35 Deletion - Frameshift 21:42403954-42403954 + tumor_4184094 COSM3357292 c.1461G>A p.V487V Substitution - coding silent 21:42437555-42437555 + TCGA-GV-A3JX-01 COSM1307840 c.843G>A p.L281L Substitution - coding silent 21:42418406-42418406 + TCGA-ER-A2NH-06 COSM3551182 c.1524A>G p.E508E Substitution - coding silent 21:42442489-42442489 + PCSI_0174_Pa_P_526 COSM4962966 c.68C>T p.S23L Substitution - Missense 21:42404013-42404013 + TCGA-FW-A3R5-06 COSM3912211 c.610C>T p.L204L Substitution - coding silent 21:42413466-42413466 + pfg212T COSM4753974 c.1136C>T p.T379M Substitution - Missense 21:42426786-42426786 + CHEWS012 COSM4582099 c.279A>G p.R93R Substitution - coding silent 21:42409533-42409533 + TCGA-D1-A103-01 COSM1031056 c.1204C>T p.R402C Substitution - Missense 21:42432136-42432136 + Pat_60_A COSM5858698 c.1142G>A p.R381K Substitution - Missense 21:42426792-42426792 + SNUH_G76_S1 COSM4418679 c.1314A>C p.P438P Substitution - coding silent 21:42434875-42434875 + TCGA-EE-A2GO-06 COSM3551179 c.993G>A p.L331L Substitution - coding silent 21:42418556-42418556 + TCGA-GU-A42R-01 COSM3799943 c.1007C>T p.T336M Substitution - Missense 21:42418570-42418570 + TCGA-AP-A0LM-01 COSM1031051 c.672C>T p.C224C Substitution - coding silent 21:42416446-42416446 + YUJUBE COSM5392972 c.1509C>T p.I503I Substitution - coding silent 21:42442474-42442474 + CSCC-41-T COSM4531568 c.1802G>A p.G601E Substitution - Missense 21:42444597-42444597 + 61 COSM5742008 c.676G>A p.V226M Substitution - Missense 21:42416450-42416450 + ESO-409 COSM1269613 c.1948G>A p.A650T Substitution - Missense 21:42447156-42447156 + 90 COSM5013653 c.425T>G p.F142C Substitution - Missense 21:42413094-42413094 + LUAD-D01382 COSM337084 c.1032G>A p.T344T Substitution - coding silent 21:42418595-42418595 + Au2 COSM5600810 c.1271G>A p.G424E Substitution - Missense 21:42434832-42434832 + I2L-P7-Tumor-Organoid COSM5366299 c.1511A>G p.K504R Substitution - Missense 21:42442476-42442476 + TCGA-EE-A29V-06 COSM3551186 c.1781C>T p.S594F Substitution - Missense 21:42444576-42444576 + TCGA-FJ-A3ZF-01 COSM3799944 c.1876G>T p.E626* Substitution - Nonsense 21:42447084-42447084 + YURAY COSM5392971 c.1444_1445CC>TT p.P482L Substitution - Missense 21:42437538-42437539 + 37M COSM5584226 c.916G>A p.D306N Substitution - Missense 21:42418479-42418479 + TCGA-ER-A19Q-06 COSM3551187 c.1825G>A p.D609N Substitution - Missense 21:42444620-42444620 + CSCC-7-T COSM4532549 c.1895G>A p.G632E Substitution - Missense 21:42447103-42447103 + TCGA-24-2035-01 COSM73177 c.1637C>T p.A546V Substitution - Missense 21:42443317-42443317 + CN-AML-08-T COSM5425398 c.1393+3A>C p.? Unknown 21:42434957-42434957 + TCGA-HU-A4H8-01 COSM4101803 c.744G>A p.T248T Substitution - coding silent 21:42416518-42416518 + CN-AML-NR-08-Dx COSM5425398 c.1393+3A>C p.? Unknown 21:42434957-42434957 + CHC1040T COSM4799549 c.1099G>A p.A367T Substitution - Missense 21:42426749-42426749 + TCGA-18-3421-01 COSM725067 c.1909G>C p.V637L Substitution - Missense 21:42447117-42447117 + HCC120T COSM3708078 c.900T>C p.G300G Substitution - coding silent 21:42418463-42418463 + TCGA-BR-6802-01 COSM4101802 c.516C>T p.F172F Substitution - coding silent 21:42413185-42413185 + TCGA-AP-A0LM-01 COSM1031057 c.1398C>T p.D466D Substitution - coding silent 21:42437492-42437492 + TCGA-41-2575-01 COSM3405429 c.1118G>A p.G373E Substitution - Missense 21:42426768-42426768 + LUAD-S00484 COSM342971 c.1789C>T p.R597W Substitution - Missense 21:42444584-42444584 + TCGA-FS-A1ZZ-06 COSM3551174 c.471C>T p.L157L Substitution - coding silent 21:42413140-42413140 + PCSI_0090_Pa_X COSM3379194 c.1787C>T p.T596M Substitution - Missense 21:42444582-42444582 + YUNEXUS COSM5392969 c.642C>T p.F214F Substitution - coding silent 21:42413498-42413498 + SNU-175 COSM2819775 c.201C>T p.D67D Substitution - coding silent 21:42409455-42409455 + C086 COSM5541257 c.98T>C p.F33S Substitution - Missense 21:42404043-42404043 + TCGA-BG-A186-01 COSM1031054 c.942C>A p.S314R Substitution - Missense 21:42418505-42418505 + TCGA-GM-A2D9-01 COSM3841982 c.1600G>C p.E534Q Substitution - Missense 21:42442565-42442565 + STC232 COSM2819775 c.201C>T p.D67D Substitution - coding silent 21:42409455-42409455 + sysucc-1370T COSM5471300 c.1739C>T p.T580M Substitution - Missense 21:42444534-42444534 + CSCC-31-T COSM4523390 c.1212G>A p.G404G Substitution - coding silent 21:42432144-42432144 + BCM567T COSM5348210 c.1418delT p.I473fs*55 Deletion - Frameshift 21:42437512-42437512 + PT52 COSM5941069 c.1272G>A p.G424G Substitution - coding silent 21:42434833-42434833 + TCGA-GN-A263-01 COSM3551180 c.1082C>T p.S361F Substitution - Missense 21:42426732-42426732 + CH-LA2 COSM4166313 c.1716C>A p.I572I Substitution - coding silent 21:42443396-42443396 + sysucc-311T COSM5465108 c.1146T>G p.S382R Substitution - Missense 21:42426796-42426796 + PD4264a COSM5768391 c.516C>A p.F172L Substitution - Missense 21:42413185-42413185 + 1_RESISTANT COSM1720891 c.770C>T p.P257L Substitution - Missense 21:42416544-42416544 + TCGA-QB-A6FS-06 COSM2819806 c.1329G>A p.G443G Substitution - coding silent 21:42434890-42434890 + TCGA-D1-A17Q-01 COSM1031055 c.1126C>A p.L376I Substitution - Missense 21:42426776-42426776 + J80_T COSM3963994 c.1411A>G p.S471G Substitution - Missense 21:42437505-42437505 + Pat_46_A COSM5858697 c.137G>A p.G46E Substitution - Missense 21:42406331-42406331 + 8012675 COSM81874 c.996G>A p.P332P Substitution - coding silent 21:42418559-42418559 + TCGA-AD-6964-01 COSM1414273 c.148G>A p.A50T Substitution - Missense 21:42406342-42406342 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.473912 21q22.3 605736

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.E508E c.1524A>G 21 43862599 CM A G Synonymous p.R103R c.309A>G 21 43829672 SCLC A T Missense p.D430V c.1289A>T 21 43854960 BLCA A T SpliceAcceptorSNV . c.1394-2A>T 21 43857596 LUAD C A Missense p.L499M c.1495C>A 21 43862570 CM C A Missense p.L552I c.1654C>A 21 43863444 LUAD C A Missense p.P147T c.439C>A 21 43833217 LUAD C A Missense p.S207R c.621C>A 21 43833586 LUAD C A Missense p.S314R c.942C>A 21 43838614 UCEC C G Missense p.N638K c.1914C>G 21 43867232 OV C G Synonymous p.L497L c.1491C>G 21 43862566 BRCA C G Synonymous p.L497L c.1491C>G 21 43862566 HNSC C T 3-UTRSNV . c.1983+141C>T 21 43867442 CM C T 3-UTRSNV . c.1983+97C>T 21 43867398 CM C T Missense p.A546V c.1637C>T 21 43863427 OV C T Missense p.A567V c.1700C>T 21 43863490 CM C T Missense p.L220F c.658C>T 21 43833623 LUAD C T Missense p.L552F c.1654C>T 21 43863444 CM C T Missense p.L88F c.262C>T 21 43829625 PRAD C T Missense p.P548L c.1643C>T 21 43863433 CM C T Missense p.P71S c.211C>T 21 43829574 CM C T Missense p.S189F c.566C>T 21 43833531 CM C T Missense p.S322L c.965C>T 21 43838637 CM C T Missense p.S361F c.1082C>T 21 43846841 CM C T Missense p.S594F c.1781C>T 21 43864686 CM C T Missense p.T178M c.533C>T 21 43833311 BRCA C T Missense p.T308M c.923C>T 21 43838595 LUAD C T Missense p.T81M c.242C>T 21 43829605 BRCA C T Nonsense p.R506* c.1516C>T 21 43862591 COREAD C T Synonymous p.A480A c.1440C>T 21 43857644 LUAD C T Synonymous p.A53A c.159C>T 21 43826462 CM C T Synonymous p.F172F c.516C>T 21 43833294 STAD C T Synonymous p.F214F c.642C>T 21 43833607 CM C T Synonymous p.F433F c.1299C>T 21 43854970 CM C T Synonymous p.L157L c.471C>T 21 43833249 CM C T Synonymous p.L281L c.841C>T 21 43838513 CM C T Synonymous p.N649N c.1947C>T 21 43867265 GBM C T Synonymous p.P289P c.867C>T 21 43838539 CM C T Synonymous p.S314S c.942C>T 21 43838614 LGG C T Synonymous p.S65S c.195C>T 21 43829558 CM G A IntronicSNV . c.1393+50G>A 21 43855114 CM G A Missense p.A650T c.1948G>A 21 43867266 ESCA G A Missense p.D450N c.1348G>A 21 43855019 CM G A Missense p.D609N c.1825G>A 21 43864730 CM G A Missense p.E405K c.1213G>A 21 43852254 HNSC G A Missense p.G373E c.1118G>A 21 43846877 GBM G A Missense p.R170Q c.509G>A 21 43833287 BLCA G A Missense p.S216N c.647G>A 21 43833612 CM G A Nonsense p.W317* c.950G>A 21 43838622 CM G A Synonymous p.G465G c.1395G>A 21 43857599 CM G A Synonymous p.L281L c.843G>A 21 43838515 BLCA G A Synonymous p.L331L c.993G>A 21 43838665 CM G A Synonymous p.L359L c.1077G>A 21 43846836 CM G A Synonymous p.P332P c.996G>A 21 43838668 OV G A Synonymous p.P554P c.1662G>A 21 43863452 COREAD G A Synonymous p.T178T c.534G>A 21 43833312 CM G A Synonymous p.V637V c.1911G>A 21 43867229 CM G C Missense p.V637L c.1909G>C 21 43867227 LUSC G - Frameshift p.C623Sfs*15 c.1868delG 21 43867186 RCCC GG AA Missense p.G404K c.1210_1211delinsAA 21 43852251 CM GG AA Missense p.R328Q c.983_984delinsAA 21 43838655 CM G T Missense p.G443W c.1327G>T 21 43854998 STAD G T Missense p.R349M c.1046G>T 21 43838718 THCA G T Nonsense p.E531* c.1591G>T 21 43862666 SCLC