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 BLCA 2 100903457 100903457 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 g.chr2:100903457C>G c.1989G>C c.(1987-1989)tgG>tgC p.W663C BLCA 2 100903525 100903525 + Splice_Site SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 g.chr2:100903525C>T c.1921G>A c.(1921-1923)Gtg>Atg p.V641M BLCA 2 100906764 100906764 + Missense_Mutation SNP C C G TCGA-K4-A5RJ-01A-11D-A289-08 TCGA-K4-A5RJ-10A-01D-A289-08 g.chr2:100906764C>G c.1876G>C c.(1876-1878)Gat>Cat p.D626H BLCA 2 100912009 100912009 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 g.chr2:100912009C>G c.1483G>C c.(1483-1485)Gca>Cca p.A495P BLCA 2 100915402 100915402 + Missense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr2:100915402C>T c.1372G>A c.(1372-1374)Gaa>Aaa p.E458K BLCA 2 100917194 100917194 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 g.chr2:100917194G>A c.977C>T c.(976-978)tCt>tTt p.S326F BLCA 2 100919382 100919382 + Splice_Site SNP C C G TCGA-XF-A9SV-01A-21D-A42E-08 TCGA-XF-A9SV-10A-01D-A42H-08 g.chr2:100919382C>G c.e3+1 BRCA 2 100903408 100903408 + Missense_Mutation SNP C C A TCGA-BH-A0DK-01A-21W-A071-09 TCGA-BH-A0DK-11A-13W-A100-09 g.chr2:100903408C>A c.2038G>T c.(2038-2040)Ggg>Tgg p.G680W BRCA 2 100903452 100903452 + Missense_Mutation SNP G G C TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 g.chr2:100903452G>C c.1994C>G c.(1993-1995)gCg>gGg p.A665G BRCA 2 100910844 100910844 + Missense_Mutation SNP G G T TCGA-AR-A0U0-01A-11D-A10G-09 TCGA-AR-A0U0-10A-01D-A10G-09 g.chr2:100910844G>T c.1604C>A c.(1603-1605)aCc>aAc p.T535N BRCA 2 100911929 100911929 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr2:100911929C>G c.1563G>C c.(1561-1563)aaG>aaC p.K521N BRCA 2 100911961 100911961 + Nonsense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:100911961G>A c.1531C>T c.(1531-1533)Cga>Tga p.R511* BRCA 2 100925592 100925592 + Missense_Mutation SNP G G C TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr2:100925592G>C c.775C>G c.(775-777)Cag>Gag p.Q259E CESC 2 100903453 100903453 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 g.chr2:100903453C>T c.1993G>A c.(1993-1995)Gcg>Acg p.A665T CESC 2 100906845 100906845 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 g.chr2:100906845C>T c.1795G>A c.(1795-1797)Gtg>Atg p.V599M CESC 2 100915696 100915696 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 g.chr2:100915696G>A c.1353C>T c.(1351-1353)ctC>ctT p.L451L CESC 2 100915746 100915746 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr2:100915746C>T c.1303G>A c.(1303-1305)Gaa>Aaa p.E435K CESC 2 100925654 100925654 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr2:100925654G>A c.713C>T c.(712-714)gCg>gTg p.A238V COAD 2 100900770 100900770 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:100900770C>A c.2255G>T c.(2254-2256)aGa>aTa p.R752I COAD 2 100900936 100900936 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr2:100900936C>T c.2089G>A c.(2089-2091)Gcc>Acc p.A697T COAD 2 100903438 100903438 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr2:100903438G>A c.2008C>T c.(2008-2010)Cgc>Tgc p.R670C COAD 2 100903482 100903482 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:100903482G>T c.1964C>A c.(1963-1965)tCt>tAt p.S655Y COAD 2 100906747 100906747 + Silent SNP C C T TCGA-AA-3695-01A-01W-0900-09 TCGA-AA-3695-10A-01W-0900-09 g.chr2:100906747C>T c.1893G>A c.(1891-1893)gcG>gcA p.A631A COAD 2 100906808 100906808 + Missense_Mutation SNP G G A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr2:100906808G>A c.1832C>T c.(1831-1833)gCg>gTg p.A611V COAD 2 100906853 100906853 + Missense_Mutation SNP A A G TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr2:100906853A>G c.1787T>C c.(1786-1788)aTt>aCt p.I596T COAD 2 100911951 100911951 + Missense_Mutation SNP G G A TCGA-AA-A01K-01A-01W-A00E-09 TCGA-AA-A01K-10A-01W-A00E-09 g.chr2:100911951G>A c.1541C>T c.(1540-1542)cCg>cTg p.P514L COAD 2 100911960 100911960 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:100911960C>T c.1532G>A c.(1531-1533)cGa>cAa p.R511Q COAD 2 100911960 100911960 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:100911960C>T c.1532G>A c.(1531-1533)cGa>cAa p.R511Q COAD 2 100911977 100911977 + Silent SNP G G A TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr2:100911977G>A c.1515C>T c.(1513-1515)gcC>gcT p.A505A COAD 2 100915739 100915739 + Missense_Mutation SNP C C T TCGA-D5-6931-01A-11D-1924-10 TCGA-D5-6931-10A-01D-1924-10 g.chr2:100915739C>T c.1310G>A c.(1309-1311)aGt>aAt p.S437N COADREAD 2 100900770 100900770 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:100900770C>A c.2255G>T c.(2254-2256)aGa>aTa p.R752I COADREAD 2 100900936 100900936 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr2:100900936C>T c.2089G>A c.(2089-2091)Gcc>Acc p.A697T COADREAD 2 100903438 100903438 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr2:100903438G>A c.2008C>T c.(2008-2010)Cgc>Tgc p.R670C COADREAD 2 100903482 100903482 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:100903482G>T c.1964C>A c.(1963-1965)tCt>tAt p.S655Y COADREAD 2 100906747 100906747 + Silent SNP C C T TCGA-AA-3695-01A-01W-0900-09 TCGA-AA-3695-10A-01W-0900-09 g.chr2:100906747C>T c.1893G>A c.(1891-1893)gcG>gcA p.A631A COADREAD 2 100906808 100906808 + Missense_Mutation SNP G G A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr2:100906808G>A c.1832C>T c.(1831-1833)gCg>gTg p.A611V COADREAD 2 100906853 100906853 + Missense_Mutation SNP A A G TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr2:100906853A>G c.1787T>C c.(1786-1788)aTt>aCt p.I596T COADREAD 2 100911951 100911951 + Missense_Mutation SNP G G A TCGA-AA-A01K-01A-01W-A00E-09 TCGA-AA-A01K-10A-01W-A00E-09 g.chr2:100911951G>A c.1541C>T c.(1540-1542)cCg>cTg p.P514L COADREAD 2 100911960 100911960 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:100911960C>T c.1532G>A c.(1531-1533)cGa>cAa p.R511Q COADREAD 2 100911960 100911960 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:100911960C>T c.1532G>A c.(1531-1533)cGa>cAa p.R511Q COADREAD 2 100911973 100911973 + Nonsense_Mutation SNP C C A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr2:100911973C>A c.1519G>T c.(1519-1521)Gaa>Taa p.E507* COADREAD 2 100911977 100911977 + Silent SNP G G A TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr2:100911977G>A c.1515C>T c.(1513-1515)gcC>gcT p.A505A COADREAD 2 100915739 100915739 + Missense_Mutation SNP C C T TCGA-D5-6931-01A-11D-1924-10 TCGA-D5-6931-10A-01D-1924-10 g.chr2:100915739C>T c.1310G>A c.(1309-1311)aGt>aAt p.S437N DLBC 2 100911980 100911980 + Silent SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr2:100911980C>T c.1512G>A c.(1510-1512)ctG>ctA p.L504L DLBC 2 100916227 100916227 + Missense_Mutation SNP C C T TCGA-FA-A82F-01A-11D-A382-10 TCGA-FA-A82F-10A-01D-A385-10 g.chr2:100916227C>T c.1219G>A c.(1219-1221)Gtg>Atg p.V407M ESCA 2 100900818 100900818 + Missense_Mutation SNP A A T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 g.chr2:100900818A>T c.2207T>A c.(2206-2208)aTc>aAc p.I736N GBM 2 100916305 100916305 + Nonsense_Mutation SNP C C A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 g.chr2:100916305C>A c.1141G>T c.(1141-1143)Gaa>Taa p.E381* GBMLGG 2 100911951 100911951 + Missense_Mutation SNP G G C TCGA-DB-A4XF-01A-11D-A27K-08 TCGA-DB-A4XF-10A-01D-A27N-08 g.chr2:100911951G>C c.1541C>G c.(1540-1542)cCg>cGg p.P514R GBMLGG 2 100915722 100915722 + Missense_Mutation SNP C C T TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 g.chr2:100915722C>T c.1327G>A c.(1327-1329)Gat>Aat p.D443N GBMLGG 2 100916305 100916305 + Nonsense_Mutation SNP C C A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 g.chr2:100916305C>A c.1141G>T c.(1141-1143)Gaa>Taa p.E381* HNSC 2 100906852 100906852 + Missense_Mutation SNP A A C TCGA-UP-A6WW-01A-12D-A34J-08 TCGA-UP-A6WW-10B-01D-A34M-08 g.chr2:100906852A>C c.1788T>G c.(1786-1788)atT>atG p.I596M HNSC 2 100910724 100910724 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr2:100910724C>T c.1724G>A c.(1723-1725)cGg>cAg p.R575Q HNSC 2 100912016 100912016 + Splice_Site SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 g.chr2:100912016C>T c.e8-1 HNSC 2 100916183 100916183 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 g.chr2:100916183C>T c.1263G>A c.(1261-1263)aaG>aaA p.K421K HNSC 2 100916256 100916256 + Missense_Mutation SNP G G A TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr2:100916256G>A c.1190C>T c.(1189-1191)gCt>gTt p.A397V HNSC 2 100916302 100916302 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 g.chr2:100916302C>T c.1144G>A c.(1144-1146)Gag>Aag p.E382K HNSC 2 100919411 100919411 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 g.chr2:100919411C>T c.893G>A c.(892-894)tGt>tAt p.C298Y KIPAN 2 100916274 100916274 + Missense_Mutation SNP A A G TCGA-G7-A8LE-01A-11D-A35Z-10 TCGA-G7-A8LE-10A-01D-A35Z-10 g.chr2:100916274A>G c.1172T>C c.(1171-1173)cTt>cCt p.L391P KIRP 2 100916274 100916274 + Missense_Mutation SNP A A G TCGA-G7-A8LE-01A-11D-A35Z-10 TCGA-G7-A8LE-10A-01D-A35Z-10 g.chr2:100916274A>G c.1172T>C c.(1171-1173)cTt>cCt p.L391P LGG 2 100911951 100911951 + Missense_Mutation SNP G G C TCGA-DB-A4XF-01A-11D-A27K-08 TCGA-DB-A4XF-10A-01D-A27N-08 g.chr2:100911951G>C c.1541C>G c.(1540-1542)cCg>cGg p.P514R LGG 2 100915722 100915722 + Missense_Mutation SNP C C T TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 g.chr2:100915722C>T c.1327G>A c.(1327-1329)Gat>Aat p.D443N LIHC 2 100906810 100906810 + Silent SNP G G A TCGA-DD-A1EC-01A-21D-A12Z-10 TCGA-DD-A1EC-11A-11D-A12Z-10 g.chr2:100906810G>A c.1830C>T c.(1828-1830)gaC>gaT p.D610D LUAD 2 100900820 100900820 + Silent SNP G G A TCGA-55-8085-01A-11D-2238-08 TCGA-55-8085-10A-01D-2238-08 g.chr2:100900820G>A c.2205C>T c.(2203-2205)atC>atT p.I735I LUAD 2 100903408 100903408 + Missense_Mutation SNP C C G TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr2:100903408C>G c.2038G>C c.(2038-2040)Ggg>Cgg p.G680R LUAD 2 100906881 100906881 + Splice_Site SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 g.chr2:100906881G>C c.1759C>G c.(1759-1761)Ctt>Gtt p.L587V LUAD 2 100916266 100916266 + Missense_Mutation SNP C C A TCGA-55-8085-01A-11D-2238-08 TCGA-55-8085-10A-01D-2238-08 g.chr2:100916266C>A c.1180G>T c.(1180-1182)Gca>Tca p.A394S LUAD 2 100919430 100919430 + Missense_Mutation SNP G G A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr2:100919430G>A c.874C>T c.(874-876)Ctt>Ttt p.L292F LUSC 2 100906843 100906843 + Silent SNP C C G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 g.chr2:100906843C>G c.1797G>C c.(1795-1797)gtG>gtC p.V599V LUSC 2 100906846 100906846 + Silent SNP G G A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 g.chr2:100906846G>A c.1794C>T c.(1792-1794)gaC>gaT p.D598D LUSC 2 100906865 100906865 + Missense_Mutation SNP C C T TCGA-22-4591-01A-01D-1267-08 TCGA-22-4591-11A-01D-1267-08 g.chr2:100906865C>T c.1775G>A c.(1774-1776)tGc>tAc p.C592Y LUSC 2 100910719 100910719 + Missense_Mutation SNP C C A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr2:100910719C>A c.1729G>T c.(1729-1731)Ggc>Tgc p.G577C LUSC 2 100915388 100915388 + Silent SNP C C G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 g.chr2:100915388C>G c.1386G>C c.(1384-1386)acG>acC p.T462T LUSC 2 100938034 100938034 + Silent SNP C C A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 g.chr2:100938034C>A c.522G>T c.(520-522)ccG>ccT p.P174P OV 2 100916305 100916305 + Nonsense_Mutation SNP C C A TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 g.chr2:100916305C>A c.1141G>T c.(1141-1143)Gaa>Taa p.E381* PAAD 2 100903511 100903511 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:100903511C>A c.1935G>T c.(1933-1935)gaG>gaT p.E645D PRAD 2 100916210 100916210 + Missense_Mutation SNP G G C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 g.chr2:100916210G>C c.1236C>G c.(1234-1236)gaC>gaG p.D412E READ 2 100911973 100911973 + Nonsense_Mutation SNP C C A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr2:100911973C>A c.1519G>T c.(1519-1521)Gaa>Taa p.E507* SARC 2 100900776 100900776 + Missense_Mutation SNP C C T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 g.chr2:100900776C>T c.2249G>A c.(2248-2250)aGg>aAg p.R750K SARC 2 100915748 100915748 + Missense_Mutation SNP G G A TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 g.chr2:100915748G>A c.1301C>T c.(1300-1302)aCa>aTa p.T434I SKCM 2 100903441 100903441 + Missense_Mutation SNP C C T TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr2:100903441C>T c.2005G>A c.(2005-2007)Gat>Aat p.D669N SKCM 2 100903447 100903447 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr2:100903447G>A c.1999C>T c.(1999-2001)Ctc>Ttc p.L667F SKCM 2 100903486 100903486 + Missense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 g.chr2:100903486C>T c.1960G>A c.(1960-1962)Gat>Aat p.D654N SKCM 2 100903486 100903486 + Missense_Mutation SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr2:100903486C>T c.1960G>A c.(1960-1962)Gat>Aat p.D654N SKCM 2 100903504 100903504 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 g.chr2:100903504C>T c.1942G>A c.(1942-1944)Gaa>Aaa p.E648K SKCM 2 100906787 100906787 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr2:100906787C>A c.1853G>T c.(1852-1854)cGa>cTa p.R618L SKCM 2 100910764 100910764 + Missense_Mutation SNP G G A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr2:100910764G>A c.1684C>T c.(1684-1686)Cgg>Tgg p.R562W SKCM 2 100911913 100911913 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr2:100911913C>T c.1579G>A c.(1579-1581)Gaa>Aaa p.E527K SKCM 2 100915380 100915380 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr2:100915380C>T c.1394G>A c.(1393-1395)gGa>gAa p.G465E SKCM 2 100916188 100916188 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr2:100916188G>A c.1258C>T c.(1258-1260)Ccc>Tcc p.P420S SKCM 2 100917174 100917174 + Missense_Mutation SNP T T G TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 g.chr2:100917174T>G c.997A>C c.(997-999)Aag>Cag p.K333Q SKCM 2 100919445 100919445 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr2:100919445C>T c.859G>A c.(859-861)Gaa>Aaa p.E287K SKCM 2 100919445 100919445 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr2:100919445C>T c.859G>A c.(859-861)Gaa>Aaa p.E287K SKCM 2 100919445 100919445 + Missense_Mutation SNP C C T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr2:100919445C>T c.859G>A c.(859-861)Gaa>Aaa p.E287K SKCM 2 100919490 100919490 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 g.chr2:100919490C>T c.814G>A c.(814-816)Gct>Act p.A272T SKCM 2 100925618 100925618 + Missense_Mutation SNP G G A TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr2:100925618G>A c.749C>T c.(748-750)gCt>gTt p.A250V SKCM 2 100925672 100925672 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:100925672G>A c.695C>T c.(694-696)tCa>tTa p.S232L SKCM 2 100925677 100925677 + Missense_Mutation SNP A A T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 g.chr2:100925677A>T c.690T>A c.(688-690)gaT>gaA p.D230E SKCM 2 100938438 100938438 + Missense_Mutation SNP C C T TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr2:100938438C>T c.118G>A c.(118-120)Gag>Aag p.E40K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 2 100925616 100925616 single base substitution G C missense_variant L251V 751C>G BLCA-CN 2 100925616 100925616 single base substitution G C missense_variant L8V 22C>G BLCA-US 2 100903457 100903457 single base substitution C G missense_variant W420C 1260G>C BLCA-US 2 100903457 100903457 single base substitution C G missense_variant W663C 1989G>C BLCA-US 2 100903525 100903525 single base substitution C T missense_variant V398M 1192G>A BLCA-US 2 100903525 100903525 single base substitution C T missense_variant V641M 1921G>A BRCA-EU 2 100886301 100886301 single base substitution T G downstream_gene_variant BRCA-EU 2 100887499 100887499 single base substitution G T downstream_gene_variant BRCA-EU 2 100887652 100887652 single base substitution G A downstream_gene_variant BRCA-EU 2 100887855 100887855 single base substitution G A downstream_gene_variant BRCA-EU 2 100887880 100887880 single base substitution C T downstream_gene_variant BRCA-EU 2 100888204 100888204 single base substitution C T downstream_gene_variant BRCA-EU 2 100888242 100888242 single base substitution C T downstream_gene_variant BRCA-EU 2 100889168 100889168 single base substitution A T downstream_gene_variant BRCA-EU 2 100889652 100889652 single base substitution C T downstream_gene_variant BRCA-EU 2 100889675 100889675 single base substitution G C downstream_gene_variant BRCA-EU 2 100889937 100889937 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 100891145 100891145 single base substitution C A 3_prime_UTR_variant BRCA-EU 2 100891721 100891721 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 100891748 100891748 single base substitution C A 3_prime_UTR_variant BRCA-EU 2 100891780 100891780 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 100892039 100892039 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 100893113 100893113 deletion of <=200bp C - 3_prime_UTR_variant BRCA-EU 2 100894805 100894805 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 100896084 100896084 single base substitution C A 3_prime_UTR_variant BRCA-EU 2 100896084 100896084 single base substitution C A downstream_gene_variant BRCA-EU 2 100896173 100896173 single base substitution T G 3_prime_UTR_variant BRCA-EU 2 100896173 100896173 single base substitution T G downstream_gene_variant BRCA-EU 2 100897302 100897302 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 100897302 100897302 single base substitution G A downstream_gene_variant BRCA-EU 2 100900400 100900400 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 100902240 100902240 single base substitution A G intron_variant BRCA-EU 2 100902831 100902831 single base substitution T C intron_variant BRCA-EU 2 100903155 100903155 single base substitution A G intron_variant BRCA-EU 2 100903337 100903337 single base substitution G C intron_variant BRCA-EU 2 100905208 100905208 single base substitution C G intron_variant BRCA-EU 2 100908747 100908747 single base substitution C G intron_variant BRCA-EU 2 100912023 100912023 deletion of <=200bp A - splice_region_variant BRCA-EU 2 100912921 100912921 single base substitution G A intron_variant BRCA-EU 2 100917841 100917841 single base substitution G A intron_variant BRCA-EU 2 100917926 100917926 single base substitution C A intron_variant BRCA-EU 2 100917949 100917949 single base substitution G C intron_variant BRCA-EU 2 100918413 100918413 single base substitution A G intron_variant BRCA-EU 2 100919145 100919145 single base substitution G C intron_variant BRCA-EU 2 100920034 100920034 single base substitution C T intron_variant BRCA-EU 2 100921253 100921266 deletion of <=200bp TTTTTTTTTTTTTT - intron_variant BRCA-EU 2 100921786 100921786 single base substitution C A intron_variant BRCA-EU 2 100921799 100921799 single base substitution T A intron_variant BRCA-EU 2 100922536 100922536 single base substitution T G intron_variant BRCA-EU 2 100925784 100925784 single base substitution T C intron_variant BRCA-EU 2 100927445 100927445 single base substitution C G intron_variant BRCA-EU 2 100927445 100927445 single base substitution C G upstream_gene_variant BRCA-EU 2 100927969 100927969 single base substitution A T intron_variant BRCA-EU 2 100927969 100927969 single base substitution A T upstream_gene_variant BRCA-EU 2 100928019 100928019 single base substitution C T intron_variant BRCA-EU 2 100928019 100928019 single base substitution C T upstream_gene_variant BRCA-EU 2 100928055 100928055 single base substitution C T intron_variant BRCA-EU 2 100928055 100928055 single base substitution C T upstream_gene_variant BRCA-EU 2 100928646 100928646 single base substitution T G intron_variant BRCA-EU 2 100928646 100928646 single base substitution T G upstream_gene_variant BRCA-EU 2 100929021 100929021 single base substitution G T intron_variant BRCA-EU 2 100929021 100929021 single base substitution G T upstream_gene_variant BRCA-EU 2 100929372 100929372 single base substitution G T intron_variant BRCA-EU 2 100929372 100929372 single base substitution G T upstream_gene_variant BRCA-EU 2 100929908 100929908 single base substitution G A intron_variant BRCA-EU 2 100929908 100929908 single base substitution G A upstream_gene_variant BRCA-EU 2 100930535 100930535 single base substitution G C intron_variant BRCA-EU 2 100930535 100930535 single base substitution G C upstream_gene_variant BRCA-EU 2 100930605 100930605 single base substitution C G intron_variant BRCA-EU 2 100930605 100930605 single base substitution C G upstream_gene_variant BRCA-EU 2 100931630 100931630 single base substitution A G intron_variant BRCA-EU 2 100931635 100931635 single base substitution T A intron_variant BRCA-EU 2 100932683 100932683 single base substitution A T intron_variant BRCA-EU 2 100935651 100935651 deletion of <=200bp T - intron_variant BRCA-EU 2 100935651 100935651 insertion of <=200bp - T intron_variant BRCA-EU 2 100936903 100936903 insertion of <=200bp - T intron_variant BRCA-EU 2 100937072 100937072 single base substitution C T intron_variant BRCA-EU 2 100937172 100937172 single base substitution G C intron_variant BRCA-EU 2 100938313 100938313 single base substitution G A synonymous_variant F81F 243C>T BRCA-EU 2 100939219 100939219 single base substitution C T upstream_gene_variant BRCA-EU 2 100939445 100939445 single base substitution C T upstream_gene_variant BRCA-EU 2 100939655 100939655 single base substitution C G upstream_gene_variant BRCA-EU 2 100939803 100939803 single base substitution G T upstream_gene_variant BRCA-EU 2 100940098 100940098 single base substitution A C upstream_gene_variant BRCA-EU 2 100940906 100940906 single base substitution G A upstream_gene_variant BRCA-EU 2 100940924 100940924 single base substitution G A upstream_gene_variant BRCA-EU 2 100943500 100943500 single base substitution T C upstream_gene_variant BRCA-FR 2 100888242 100888242 single base substitution C T downstream_gene_variant BRCA-FR 2 100889937 100889937 single base substitution C G 3_prime_UTR_variant BRCA-FR 2 100890249 100890249 single base substitution C T 3_prime_UTR_variant BRCA-FR 2 100900400 100900400 single base substitution C T 3_prime_UTR_variant BRCA-FR 2 100907019 100907019 single base substitution T C intron_variant BRCA-FR 2 100909851 100909851 single base substitution C A intron_variant BRCA-FR 2 100928019 100928019 single base substitution C T intron_variant BRCA-FR 2 100928019 100928019 single base substitution C T upstream_gene_variant BRCA-FR 2 100928646 100928646 single base substitution T G intron_variant BRCA-FR 2 100928646 100928646 single base substitution T G upstream_gene_variant BRCA-FR 2 100929021 100929021 single base substitution G T intron_variant BRCA-FR 2 100929021 100929021 single base substitution G T upstream_gene_variant BRCA-FR 2 100931818 100931818 single base substitution T C intron_variant BRCA-FR 2 100932299 100932299 single base substitution C G intron_variant BRCA-FR 2 100932439 100932439 single base substitution G T intron_variant BRCA-FR 2 100937072 100937072 single base substitution C T intron_variant BRCA-FR 2 100937135 100937135 single base substitution A G intron_variant BRCA-FR 2 100938656 100938656 single base substitution C T 5_prime_UTR_variant BRCA-FR 2 100939478 100939478 single base substitution G A upstream_gene_variant BRCA-FR 2 100939636 100939636 single base substitution T C upstream_gene_variant BRCA-UK 2 100887652 100887652 single base substitution G A downstream_gene_variant BRCA-UK 2 100896173 100896173 single base substitution T G 3_prime_UTR_variant BRCA-UK 2 100896173 100896173 single base substitution T G downstream_gene_variant BRCA-UK 2 100917926 100917926 single base substitution C A intron_variant BRCA-US 2 100903408 100903408 single base substitution C A missense_variant G437W 1309G>T BRCA-US 2 100903408 100903408 single base substitution C A missense_variant G680W 2038G>T BRCA-US 2 100903452 100903452 single base substitution G C missense_variant A422G 1265C>G BRCA-US 2 100903452 100903452 single base substitution G C missense_variant A665G 1994C>G BRCA-US 2 100910844 100910844 single base substitution G T missense_variant T292N 875C>A BRCA-US 2 100910844 100910844 single base substitution G T missense_variant T535N 1604C>A BRCA-US 2 100911929 100911929 single base substitution C G missense_variant K278N 834G>C BRCA-US 2 100911929 100911929 single base substitution C G missense_variant K521N 1563G>C BRCA-US 2 100911961 100911961 single base substitution G A stop_gained R268* 802C>T BRCA-US 2 100911961 100911961 single base substitution G A stop_gained R511* 1531C>T BRCA-US 2 100925592 100925592 single base substitution G C missense_variant Q16E 46C>G BRCA-US 2 100925592 100925592 single base substitution G C missense_variant Q259E 775C>G BTCA-JP 2 100903337 100903337 single base substitution G T intron_variant BTCA-JP 2 100917119 100917119 single base substitution G A missense_variant A108V 323C>T BTCA-JP 2 100917119 100917119 single base substitution G A missense_variant A351V 1052C>T BTCA-JP 2 100917120 100917120 single base substitution C T missense_variant A108T 322G>A BTCA-JP 2 100917120 100917120 single base substitution C T missense_variant A351T 1051G>A CESC-US 2 100903453 100903453 single base substitution C T missense_variant A422T 1264G>A CESC-US 2 100903453 100903453 single base substitution C T missense_variant A665T 1993G>A CESC-US 2 100906845 100906845 single base substitution C T missense_variant V356M 1066G>A CESC-US 2 100906845 100906845 single base substitution C T missense_variant V599M 1795G>A CESC-US 2 100915696 100915696 single base substitution G A synonymous_variant L208L 624C>T CESC-US 2 100915696 100915696 single base substitution G A synonymous_variant L451L 1353C>T CESC-US 2 100915746 100915746 single base substitution C T missense_variant E192K 574G>A CESC-US 2 100915746 100915746 single base substitution C T missense_variant E435K 1303G>A CESC-US 2 100925654 100925654 single base substitution G A 5_prime_UTR_variant CESC-US 2 100925654 100925654 single base substitution G A missense_variant A238V 713C>T CLLE-ES 2 100886553 100886553 single base substitution A T downstream_gene_variant CLLE-ES 2 100909220 100909220 single base substitution A G intron_variant CLLE-ES 2 100931597 100931597 single base substitution G A intron_variant COAD-US 2 100900936 100900936 single base substitution C T missense_variant A454T 1360G>A COAD-US 2 100900936 100900936 single base substitution C T missense_variant A697T 2089G>A COAD-US 2 100906808 100906808 single base substitution G A missense_variant A368V 1103C>T COAD-US 2 100906808 100906808 single base substitution G A missense_variant A611V 1832C>T COAD-US 2 100911960 100911960 single base substitution C T missense_variant R268Q 803G>A COAD-US 2 100911960 100911960 single base substitution C T missense_variant R511Q 1532G>A COAD-US 2 100911977 100911977 single base substitution G A synonymous_variant A262A 786C>T COAD-US 2 100911977 100911977 single base substitution G A synonymous_variant A505A 1515C>T COAD-US 2 100915739 100915739 single base substitution C T missense_variant S194N 581G>A COAD-US 2 100915739 100915739 single base substitution C T missense_variant S437N 1310G>A COCA-CN 2 100906703 100906703 single base substitution A G intron_variant COCA-CN 2 100910621 100910621 single base substitution A G intron_variant COCA-CN 2 100910718 100910718 single base substitution C T missense_variant G334D 1001G>A COCA-CN 2 100910718 100910718 single base substitution C T missense_variant G577D 1730G>A COCA-CN 2 100911927 100911927 single base substitution C A missense_variant R279I 836G>T COCA-CN 2 100911927 100911927 single base substitution C A missense_variant R522I 1565G>T COCA-CN 2 100911960 100911960 single base substitution C T missense_variant R268Q 803G>A COCA-CN 2 100911960 100911960 single base substitution C T missense_variant R511Q 1532G>A COCA-CN 2 100915691 100915691 single base substitution A G missense_variant M210T 629T>C COCA-CN 2 100915691 100915691 single base substitution A G missense_variant M453T 1358T>C COCA-CN 2 100917077 100917077 single base substitution G T intron_variant COCA-CN 2 100925439 100925439 single base substitution G A intron_variant COCA-CN 2 100938027 100938027 single base substitution G A missense_variant R177W 529C>T ESAD-UK 2 100885078 100885078 single base substitution G C downstream_gene_variant ESAD-UK 2 100886648 100886648 single base substitution A G downstream_gene_variant ESAD-UK 2 100886838 100886838 single base substitution G A downstream_gene_variant ESAD-UK 2 100888697 100888697 single base substitution T C downstream_gene_variant ESAD-UK 2 100888851 100888851 deletion of <=200bp C - downstream_gene_variant ESAD-UK 2 100890540 100890540 single base substitution C A 3_prime_UTR_variant ESAD-UK 2 100890764 100890764 single base substitution T A 3_prime_UTR_variant ESAD-UK 2 100891497 100891497 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 100895024 100895024 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 100895024 100895024 single base substitution G A downstream_gene_variant ESAD-UK 2 100897469 100897469 single base substitution C A 3_prime_UTR_variant ESAD-UK 2 100897469 100897469 single base substitution C A downstream_gene_variant ESAD-UK 2 100897591 100897591 single base substitution A T 3_prime_UTR_variant ESAD-UK 2 100897591 100897591 single base substitution A T downstream_gene_variant ESAD-UK 2 100899199 100899199 single base substitution T C 3_prime_UTR_variant ESAD-UK 2 100899199 100899199 single base substitution T C downstream_gene_variant ESAD-UK 2 100899221 100899221 single base substitution A T 3_prime_UTR_variant ESAD-UK 2 100899221 100899221 single base substitution A T downstream_gene_variant ESAD-UK 2 100901041 100901041 single base substitution C A intron_variant ESAD-UK 2 100901659 100901659 single base substitution C T intron_variant ESAD-UK 2 100901742 100901742 single base substitution G T intron_variant ESAD-UK 2 100902310 100902310 single base substitution G A intron_variant ESAD-UK 2 100902716 100902716 single base substitution G A intron_variant ESAD-UK 2 100907753 100907753 deletion of <=200bp A - intron_variant ESAD-UK 2 100911587 100911587 single base substitution C A intron_variant ESAD-UK 2 100912023 100912023 insertion of <=200bp - A splice_region_variant ESAD-UK 2 100912071 100912071 single base substitution G C intron_variant ESAD-UK 2 100912919 100912919 single base substitution T C intron_variant ESAD-UK 2 100914395 100914395 single base substitution C T intron_variant ESAD-UK 2 100916102 100916102 single base substitution A T intron_variant ESAD-UK 2 100916473 100916473 single base substitution A G intron_variant ESAD-UK 2 100917316 100917316 single base substitution T G intron_variant ESAD-UK 2 100921650 100921650 single base substitution A G intron_variant ESAD-UK 2 100921670 100921670 single base substitution A G intron_variant ESAD-UK 2 100923907 100923907 single base substitution T C intron_variant ESAD-UK 2 100924775 100924775 single base substitution C T intron_variant ESAD-UK 2 100924882 100924882 single base substitution A C intron_variant ESAD-UK 2 100925507 100925507 single base substitution G T intron_variant ESAD-UK 2 100925827 100925827 single base substitution A T intron_variant ESAD-UK 2 100927829 100927829 single base substitution T A intron_variant ESAD-UK 2 100927829 100927829 single base substitution T A upstream_gene_variant ESAD-UK 2 100927835 100927835 single base substitution A G intron_variant ESAD-UK 2 100927835 100927835 single base substitution A G upstream_gene_variant ESAD-UK 2 100929750 100929750 single base substitution A C intron_variant ESAD-UK 2 100929750 100929750 single base substitution A C upstream_gene_variant ESAD-UK 2 100930125 100930125 single base substitution C A intron_variant ESAD-UK 2 100930125 100930125 single base substitution C A upstream_gene_variant ESAD-UK 2 100932564 100932564 single base substitution C T intron_variant ESAD-UK 2 100932630 100932630 single base substitution A C intron_variant ESAD-UK 2 100935907 100935907 single base substitution A T intron_variant ESAD-UK 2 100938759 100938759 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 2 100942066 100942066 single base substitution C T upstream_gene_variant ESAD-UK 2 100942198 100942198 single base substitution C T upstream_gene_variant ESAD-UK 2 100942866 100942866 single base substitution T G upstream_gene_variant ESAD-UK 2 100943828 100943828 deletion of <=200bp T - upstream_gene_variant GBM-US 2 100916305 100916305 single base substitution C A stop_gained E138* 412G>T GBM-US 2 100916305 100916305 single base substitution C A stop_gained E381* 1141G>T KIRC-US 2 100903525 100903525 single base substitution C T missense_variant V398M 1192G>A KIRC-US 2 100903525 100903525 single base substitution C T missense_variant V641M 1921G>A KIRC-US 2 100906805 100906805 single base substitution A G missense_variant I369T 1106T>C KIRC-US 2 100906805 100906805 single base substitution A G missense_variant I612T 1835T>C KIRP-US 2 100903452 100903452 single base substitution G A missense_variant A422V 1265C>T KIRP-US 2 100903452 100903452 single base substitution G A missense_variant A665V 1994C>T LAML-KR 2 100916627 100916627 single base substitution G A intron_variant LGG-US 2 100915722 100915722 single base substitution C T missense_variant D200N 598G>A LGG-US 2 100915722 100915722 single base substitution C T missense_variant D443N 1327G>A LICA-FR 2 100906810 100906810 single base substitution G T missense_variant D367E 1101C>A LICA-FR 2 100906810 100906810 single base substitution G T missense_variant D610E 1830C>A LIHC-US 2 100906810 100906810 single base substitution G A synonymous_variant D367D 1101C>T LIHC-US 2 100906810 100906810 single base substitution G A synonymous_variant D610D 1830C>T LINC-JP 2 100897760 100897760 single base substitution T G 3_prime_UTR_variant LINC-JP 2 100897760 100897760 single base substitution T G downstream_gene_variant LINC-JP 2 100903864 100903864 single base substitution A C intron_variant LINC-JP 2 100929365 100929365 single base substitution G A intron_variant LINC-JP 2 100929365 100929365 single base substitution G A upstream_gene_variant LINC-JP 2 100933416 100933416 single base substitution C T intron_variant LINC-JP 2 100937928 100937928 single base substitution G A stop_gained Q210* 628C>T LIRI-JP 2 100884969 100884969 single base substitution A G downstream_gene_variant LIRI-JP 2 100885276 100885276 single base substitution G T downstream_gene_variant LIRI-JP 2 100888354 100888354 single base substitution C T downstream_gene_variant LIRI-JP 2 100889801 100889801 single base substitution T G 3_prime_UTR_variant LIRI-JP 2 100893375 100893375 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 100895289 100895289 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 100895289 100895289 single base substitution G A downstream_gene_variant LIRI-JP 2 100896387 100896387 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 100896387 100896387 single base substitution T C downstream_gene_variant LIRI-JP 2 100898576 100898576 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 100898576 100898576 single base substitution G A downstream_gene_variant LIRI-JP 2 100904417 100904417 single base substitution T C intron_variant LIRI-JP 2 100909407 100909407 single base substitution T C intron_variant LIRI-JP 2 100910216 100910216 single base substitution T C intron_variant LIRI-JP 2 100912326 100912326 single base substitution G A intron_variant LIRI-JP 2 100913640 100913640 single base substitution G A intron_variant LIRI-JP 2 100915403 100915403 single base substitution A C missense_variant F214L 642T>G LIRI-JP 2 100915403 100915403 single base substitution A C missense_variant F457L 1371T>G LIRI-JP 2 100915728 100915728 single base substitution A G missense_variant S198P 592T>C LIRI-JP 2 100915728 100915728 single base substitution A G missense_variant S441P 1321T>C LIRI-JP 2 100916297 100916297 single base substitution A G synonymous_variant D140D 420T>C LIRI-JP 2 100916297 100916297 single base substitution A G synonymous_variant D383D 1149T>C LIRI-JP 2 100917838 100917838 single base substitution A G intron_variant LIRI-JP 2 100919480 100919480 single base substitution A G missense_variant L275P 824T>C LIRI-JP 2 100919480 100919480 single base substitution A G missense_variant L32P 95T>C LIRI-JP 2 100920966 100920966 single base substitution T A intron_variant LIRI-JP 2 100924136 100924136 single base substitution A G intron_variant LIRI-JP 2 100926292 100926292 single base substitution G A intron_variant LIRI-JP 2 100926292 100926292 single base substitution G A upstream_gene_variant LIRI-JP 2 100926739 100926739 single base substitution G T intron_variant LIRI-JP 2 100926739 100926739 single base substitution G T upstream_gene_variant LIRI-JP 2 100927462 100927462 single base substitution T C intron_variant LIRI-JP 2 100927462 100927462 single base substitution T C upstream_gene_variant LIRI-JP 2 100927468 100927468 single base substitution T G intron_variant LIRI-JP 2 100927468 100927468 single base substitution T G upstream_gene_variant LIRI-JP 2 100931470 100931470 single base substitution G T intron_variant LIRI-JP 2 100935462 100935462 single base substitution C T intron_variant LIRI-JP 2 100935962 100935962 single base substitution A G intron_variant LIRI-JP 2 100936128 100936128 single base substitution T C intron_variant LIRI-JP 2 100937560 100937560 single base substitution G A intron_variant LIRI-JP 2 100940919 100940919 single base substitution T A upstream_gene_variant LIRI-JP 2 100941875 100941875 single base substitution A T upstream_gene_variant LIRI-JP 2 100942021 100942021 single base substitution G A upstream_gene_variant LIRI-JP 2 100943728 100943728 single base substitution A G upstream_gene_variant LUSC-KR 2 100887967 100887967 single base substitution C G downstream_gene_variant LUSC-KR 2 100889446 100889446 single base substitution G A downstream_gene_variant LUSC-KR 2 100893672 100893672 single base substitution C A 3_prime_UTR_variant LUSC-KR 2 100893942 100893942 single base substitution C A 3_prime_UTR_variant LUSC-KR 2 100896391 100896391 single base substitution C A 3_prime_UTR_variant LUSC-KR 2 100896391 100896391 single base substitution C A downstream_gene_variant LUSC-KR 2 100898358 100898358 single base substitution T G 3_prime_UTR_variant LUSC-KR 2 100898358 100898358 single base substitution T G downstream_gene_variant LUSC-KR 2 100900691 100900691 single base substitution C T 3_prime_UTR_variant LUSC-KR 2 100911035 100911035 single base substitution T G intron_variant LUSC-KR 2 100911062 100911062 single base substitution G A intron_variant LUSC-KR 2 100915468 100915468 single base substitution T C intron_variant LUSC-KR 2 100917250 100917250 single base substitution C T splice_acceptor_variant LUSC-KR 2 100921090 100921090 single base substitution T G intron_variant LUSC-KR 2 100924845 100924845 single base substitution C A intron_variant LUSC-KR 2 100927049 100927049 single base substitution C A intron_variant LUSC-KR 2 100927049 100927049 single base substitution C A upstream_gene_variant LUSC-KR 2 100927864 100927864 single base substitution T A intron_variant LUSC-KR 2 100927864 100927864 single base substitution T A upstream_gene_variant LUSC-KR 2 100932562 100932562 single base substitution C A intron_variant LUSC-KR 2 100935281 100935281 single base substitution G C intron_variant LUSC-KR 2 100938384 100938384 single base substitution G C missense_variant R58G 172C>G LUSC-KR 2 100939348 100939348 single base substitution G T upstream_gene_variant LUSC-KR 2 100941304 100941304 single base substitution A G upstream_gene_variant LUSC-KR 2 100942973 100942973 single base substitution T C upstream_gene_variant LUSC-US 2 100906843 100906843 single base substitution C G synonymous_variant V356V 1068G>C LUSC-US 2 100906843 100906843 single base substitution C G synonymous_variant V599V 1797G>C LUSC-US 2 100906846 100906846 single base substitution G A synonymous_variant D355D 1065C>T LUSC-US 2 100906846 100906846 single base substitution G A synonymous_variant D598D 1794C>T LUSC-US 2 100906865 100906865 single base substitution C T missense_variant C349Y 1046G>A LUSC-US 2 100906865 100906865 single base substitution C T missense_variant C592Y 1775G>A LUSC-US 2 100910719 100910719 single base substitution C A missense_variant G334C 1000G>T LUSC-US 2 100910719 100910719 single base substitution C A missense_variant G577C 1729G>T LUSC-US 2 100915388 100915388 single base substitution C G synonymous_variant T219T 657G>C LUSC-US 2 100915388 100915388 single base substitution C G synonymous_variant T462T 1386G>C LUSC-US 2 100938034 100938034 single base substitution C A synonymous_variant P174P 522G>T MALY-DE 2 100896715 100896715 single base substitution C T 3_prime_UTR_variant MALY-DE 2 100896715 100896715 single base substitution C T downstream_gene_variant MALY-DE 2 100897552 100897552 single base substitution C T 3_prime_UTR_variant MALY-DE 2 100897552 100897552 single base substitution C T downstream_gene_variant MALY-DE 2 100904585 100904585 single base substitution C T intron_variant MALY-DE 2 100905183 100905183 single base substitution C T intron_variant MALY-DE 2 100915909 100915909 single base substitution G T intron_variant MALY-DE 2 100916627 100916627 single base substitution G A intron_variant MALY-DE 2 100925331 100925331 single base substitution C T intron_variant MALY-DE 2 100933034 100933034 single base substitution A G intron_variant MALY-DE 2 100943743 100943743 single base substitution T C upstream_gene_variant MELA-AU 2 100884856 100884857 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 100885059 100885059 single base substitution G A downstream_gene_variant MELA-AU 2 100885076 100885076 single base substitution C T downstream_gene_variant MELA-AU 2 100885108 100885108 single base substitution C T downstream_gene_variant MELA-AU 2 100885112 100885112 single base substitution G A downstream_gene_variant MELA-AU 2 100885253 100885253 single base substitution G A downstream_gene_variant MELA-AU 2 100885540 100885540 single base substitution T C downstream_gene_variant MELA-AU 2 100885608 100885608 single base substitution G A downstream_gene_variant MELA-AU 2 100885880 100885880 single base substitution C T downstream_gene_variant MELA-AU 2 100885895 100885895 single base substitution G A downstream_gene_variant MELA-AU 2 100886285 100886285 single base substitution G A downstream_gene_variant MELA-AU 2 100886689 100886690 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 100886949 100886949 single base substitution G A downstream_gene_variant MELA-AU 2 100886979 100886979 single base substitution C T downstream_gene_variant MELA-AU 2 100887006 100887006 single base substitution C T downstream_gene_variant MELA-AU 2 100887038 100887038 single base substitution C T downstream_gene_variant MELA-AU 2 100887381 100887381 single base substitution C T downstream_gene_variant MELA-AU 2 100887463 100887463 single base substitution G A downstream_gene_variant MELA-AU 2 100887500 100887500 single base substitution C T downstream_gene_variant MELA-AU 2 100887587 100887587 single base substitution G A downstream_gene_variant MELA-AU 2 100887596 100887596 single base substitution C T downstream_gene_variant MELA-AU 2 100887805 100887805 single base substitution G A downstream_gene_variant MELA-AU 2 100887924 100887924 single base substitution G A downstream_gene_variant MELA-AU 2 100888082 100888082 single base substitution C T downstream_gene_variant MELA-AU 2 100888182 100888182 single base substitution G A downstream_gene_variant MELA-AU 2 100888198 100888198 single base substitution G A downstream_gene_variant MELA-AU 2 100888564 100888564 single base substitution T C downstream_gene_variant MELA-AU 2 100888843 100888843 single base substitution C T downstream_gene_variant MELA-AU 2 100888999 100888999 single base substitution A G downstream_gene_variant MELA-AU 2 100889368 100889368 single base substitution C T downstream_gene_variant MELA-AU 2 100889599 100889599 single base substitution G A downstream_gene_variant MELA-AU 2 100889685 100889685 single base substitution C T downstream_gene_variant MELA-AU 2 100889754 100889754 single base substitution G T 3_prime_UTR_variant MELA-AU 2 100890025 100890025 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100890194 100890194 single base substitution T C 3_prime_UTR_variant MELA-AU 2 100890249 100890249 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100890389 100890389 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100890579 100890579 single base substitution A G 3_prime_UTR_variant MELA-AU 2 100891027 100891027 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100891148 100891148 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100891615 100891615 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100891665 100891665 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100891718 100891718 single base substitution C G 3_prime_UTR_variant MELA-AU 2 100891797 100891797 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100891799 100891799 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100891914 100891914 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100891924 100891924 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100892128 100892128 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100892135 100892135 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100892300 100892300 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100892336 100892336 single base substitution A C 3_prime_UTR_variant MELA-AU 2 100892854 100892854 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100892940 100892940 single base substitution G T 3_prime_UTR_variant MELA-AU 2 100893069 100893069 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100893424 100893424 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100893608 100893608 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100894146 100894146 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100894191 100894191 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100894326 100894326 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100894564 100894564 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100894595 100894595 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100894630 100894630 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100894847 100894847 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100895137 100895137 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100895137 100895137 single base substitution C T downstream_gene_variant MELA-AU 2 100895517 100895517 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100895517 100895517 single base substitution G A downstream_gene_variant MELA-AU 2 100895522 100895522 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100895522 100895522 single base substitution G A downstream_gene_variant MELA-AU 2 100895889 100895889 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100895889 100895889 single base substitution C T downstream_gene_variant MELA-AU 2 100895951 100895951 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100895951 100895951 single base substitution C T downstream_gene_variant MELA-AU 2 100896168 100896168 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100896168 100896168 single base substitution C T downstream_gene_variant MELA-AU 2 100896308 100896308 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100896308 100896308 single base substitution C T downstream_gene_variant MELA-AU 2 100896389 100896389 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100896389 100896389 single base substitution G A downstream_gene_variant MELA-AU 2 100896427 100896427 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100896427 100896427 single base substitution C T downstream_gene_variant MELA-AU 2 100896541 100896541 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100896541 100896541 single base substitution G A downstream_gene_variant MELA-AU 2 100896691 100896691 single base substitution T A 3_prime_UTR_variant MELA-AU 2 100896691 100896691 single base substitution T A downstream_gene_variant MELA-AU 2 100896747 100896748 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 2 100896747 100896748 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 100896900 100896900 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100896900 100896900 single base substitution G A downstream_gene_variant MELA-AU 2 100896918 100896918 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100896918 100896918 single base substitution G A downstream_gene_variant MELA-AU 2 100897170 100897170 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100897170 100897170 single base substitution G A downstream_gene_variant MELA-AU 2 100897387 100897387 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100897387 100897387 single base substitution C T downstream_gene_variant MELA-AU 2 100897538 100897538 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100897538 100897538 single base substitution C T downstream_gene_variant MELA-AU 2 100897968 100897968 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100897968 100897968 single base substitution G A downstream_gene_variant MELA-AU 2 100898267 100898267 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100898267 100898267 single base substitution G A downstream_gene_variant MELA-AU 2 100898295 100898295 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100898295 100898295 single base substitution G A downstream_gene_variant MELA-AU 2 100898526 100898526 single base substitution T G 3_prime_UTR_variant MELA-AU 2 100898526 100898526 single base substitution T G downstream_gene_variant MELA-AU 2 100898533 100898533 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100898533 100898533 single base substitution C T downstream_gene_variant MELA-AU 2 100898538 100898539 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 2 100898538 100898539 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 100898588 100898588 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100898588 100898588 single base substitution C T downstream_gene_variant MELA-AU 2 100898631 100898631 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100898631 100898631 single base substitution G A downstream_gene_variant MELA-AU 2 100898738 100898738 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100898738 100898738 single base substitution G A downstream_gene_variant MELA-AU 2 100898833 100898833 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100898833 100898833 single base substitution C T downstream_gene_variant MELA-AU 2 100898909 100898909 single base substitution G T 3_prime_UTR_variant MELA-AU 2 100898909 100898909 single base substitution G T downstream_gene_variant MELA-AU 2 100899551 100899551 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100899551 100899551 single base substitution G A downstream_gene_variant MELA-AU 2 100899714 100899714 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100899714 100899714 single base substitution G A downstream_gene_variant MELA-AU 2 100899780 100899780 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100899780 100899780 single base substitution C T downstream_gene_variant MELA-AU 2 100900051 100900051 deletion of <=200bp A - 3_prime_UTR_variant MELA-AU 2 100900071 100900071 single base substitution C G 3_prime_UTR_variant MELA-AU 2 100900123 100900123 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100900124 100900124 single base substitution G C 3_prime_UTR_variant MELA-AU 2 100900329 100900329 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100900495 100900495 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100900986 100900986 single base substitution A G intron_variant MELA-AU 2 100901146 100901146 single base substitution G A intron_variant MELA-AU 2 100901580 100901580 single base substitution G A intron_variant MELA-AU 2 100901672 100901673 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 100901827 100901827 single base substitution A T intron_variant MELA-AU 2 100901883 100901883 single base substitution G A intron_variant MELA-AU 2 100901911 100901911 single base substitution G A intron_variant MELA-AU 2 100901942 100901942 single base substitution C T intron_variant MELA-AU 2 100902003 100902003 single base substitution G A intron_variant MELA-AU 2 100902052 100902052 single base substitution C T intron_variant MELA-AU 2 100902118 100902118 single base substitution G A intron_variant MELA-AU 2 100902131 100902131 single base substitution G A intron_variant MELA-AU 2 100902224 100902225 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 100902298 100902298 single base substitution G A intron_variant MELA-AU 2 100902602 100902602 single base substitution G A intron_variant MELA-AU 2 100902648 100902648 single base substitution G A intron_variant MELA-AU 2 100902743 100902743 single base substitution G A intron_variant MELA-AU 2 100902906 100902906 single base substitution A G intron_variant MELA-AU 2 100903358 100903358 single base substitution G A intron_variant MELA-AU 2 100903364 100903364 single base substitution G A intron_variant MELA-AU 2 100903461 100903461 single base substitution G A missense_variant S419F 1256C>T MELA-AU 2 100903461 100903461 single base substitution G A missense_variant S662F 1985C>T MELA-AU 2 100903767 100903767 single base substitution G A intron_variant MELA-AU 2 100903954 100903954 single base substitution C T intron_variant MELA-AU 2 100904133 100904133 single base substitution G A intron_variant MELA-AU 2 100904167 100904167 single base substitution C T intron_variant MELA-AU 2 100904363 100904363 single base substitution C T intron_variant MELA-AU 2 100904482 100904482 single base substitution G A intron_variant MELA-AU 2 100904494 100904494 deletion of <=200bp A - intron_variant MELA-AU 2 100904678 100904678 single base substitution G A intron_variant MELA-AU 2 100904778 100904778 single base substitution C T intron_variant MELA-AU 2 100904830 100904830 single base substitution G A intron_variant MELA-AU 2 100904878 100904878 single base substitution C A intron_variant MELA-AU 2 100904989 100904989 single base substitution G A intron_variant MELA-AU 2 100905296 100905296 single base substitution C A intron_variant MELA-AU 2 100905505 100905505 single base substitution A T intron_variant MELA-AU 2 100905788 100905788 single base substitution C T intron_variant MELA-AU 2 100905800 100905800 single base substitution A C intron_variant MELA-AU 2 100906133 100906133 single base substitution C T intron_variant MELA-AU 2 100906155 100906155 single base substitution C T intron_variant MELA-AU 2 100906202 100906202 single base substitution C T intron_variant MELA-AU 2 100906235 100906235 single base substitution C T intron_variant MELA-AU 2 100906364 100906364 single base substitution G A intron_variant MELA-AU 2 100906399 100906399 single base substitution C T intron_variant MELA-AU 2 100906447 100906448 multiple base substitution (>=2bp and <=200bp) CA TG intron_variant MELA-AU 2 100906848 100906848 single base substitution C T missense_variant D355N 1063G>A MELA-AU 2 100906848 100906848 single base substitution C T missense_variant D598N 1792G>A MELA-AU 2 100906942 100906942 single base substitution C T intron_variant MELA-AU 2 100907218 100907218 single base substitution C T intron_variant MELA-AU 2 100907284 100907284 single base substitution C T intron_variant MELA-AU 2 100909332 100909332 single base substitution T C intron_variant MELA-AU 2 100909520 100909520 single base substitution C T intron_variant MELA-AU 2 100909638 100909638 single base substitution T G intron_variant MELA-AU 2 100909690 100909690 single base substitution G A intron_variant MELA-AU 2 100909707 100909707 single base substitution C T intron_variant MELA-AU 2 100910055 100910055 single base substitution G A intron_variant MELA-AU 2 100910232 100910233 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 100910267 100910267 single base substitution C T intron_variant MELA-AU 2 100910367 100910367 single base substitution G A intron_variant MELA-AU 2 100910504 100910504 single base substitution G A intron_variant MELA-AU 2 100910801 100910801 single base substitution C T synonymous_variant T306T 918G>A MELA-AU 2 100910801 100910801 single base substitution C T synonymous_variant T549T 1647G>A MELA-AU 2 100910863 100910863 single base substitution G A intron_variant MELA-AU 2 100911498 100911498 single base substitution G A intron_variant MELA-AU 2 100911535 100911535 single base substitution C G intron_variant MELA-AU 2 100911554 100911554 single base substitution C T intron_variant MELA-AU 2 100911782 100911782 single base substitution C T intron_variant MELA-AU 2 100911960 100911960 single base substitution C T missense_variant R268Q 803G>A MELA-AU 2 100911960 100911960 single base substitution C T missense_variant R511Q 1532G>A MELA-AU 2 100912353 100912353 single base substitution G A intron_variant MELA-AU 2 100912432 100912432 single base substitution C T intron_variant MELA-AU 2 100912611 100912611 single base substitution C T intron_variant MELA-AU 2 100913005 100913005 single base substitution G A intron_variant MELA-AU 2 100913093 100913093 single base substitution G A intron_variant MELA-AU 2 100913103 100913103 single base substitution C T intron_variant MELA-AU 2 100913333 100913333 single base substitution C T intron_variant MELA-AU 2 100913968 100913968 single base substitution G A intron_variant MELA-AU 2 100914155 100914155 single base substitution G A intron_variant MELA-AU 2 100914314 100914314 single base substitution C T intron_variant MELA-AU 2 100914329 100914329 single base substitution A G intron_variant MELA-AU 2 100914637 100914637 single base substitution G A intron_variant MELA-AU 2 100914802 100914802 single base substitution G A intron_variant MELA-AU 2 100914880 100914880 single base substitution A C intron_variant MELA-AU 2 100914906 100914906 single base substitution G A intron_variant MELA-AU 2 100915234 100915234 single base substitution G A intron_variant MELA-AU 2 100915380 100915380 single base substitution C T missense_variant G222E 665G>A MELA-AU 2 100915380 100915380 single base substitution C T missense_variant G465E 1394G>A MELA-AU 2 100915861 100915861 single base substitution G A intron_variant MELA-AU 2 100915917 100915917 single base substitution C T intron_variant MELA-AU 2 100916625 100916625 single base substitution C T intron_variant MELA-AU 2 100916689 100916689 single base substitution C T intron_variant MELA-AU 2 100917132 100917132 single base substitution C T missense_variant E104K 310G>A MELA-AU 2 100917132 100917132 single base substitution C T missense_variant E347K 1039G>A MELA-AU 2 100917174 100917174 single base substitution T G missense_variant K333Q 997A>C MELA-AU 2 100917174 100917174 single base substitution T G missense_variant K90Q 268A>C MELA-AU 2 100917277 100917277 single base substitution T C intron_variant MELA-AU 2 100917330 100917330 single base substitution G A intron_variant MELA-AU 2 100917470 100917470 single base substitution C T intron_variant MELA-AU 2 100917586 100917587 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 100917826 100917826 single base substitution C T intron_variant MELA-AU 2 100918134 100918134 single base substitution G A intron_variant MELA-AU 2 100918154 100918154 single base substitution C T intron_variant MELA-AU 2 100918199 100918199 single base substitution G A intron_variant MELA-AU 2 100918325 100918325 single base substitution G A intron_variant MELA-AU 2 100918389 100918389 single base substitution C T intron_variant MELA-AU 2 100918508 100918508 single base substitution G A intron_variant MELA-AU 2 100918764 100918764 single base substitution C T intron_variant MELA-AU 2 100918893 100918893 single base substitution G A intron_variant MELA-AU 2 100918940 100918940 single base substitution G A intron_variant MELA-AU 2 100918950 100918950 single base substitution C T intron_variant MELA-AU 2 100919303 100919303 single base substitution C T intron_variant MELA-AU 2 100919326 100919326 single base substitution G A intron_variant MELA-AU 2 100919442 100919442 single base substitution A T missense_variant F288I 862T>A MELA-AU 2 100919442 100919442 single base substitution A T missense_variant F45I 133T>A MELA-AU 2 100919445 100919445 single base substitution C T missense_variant E287K 859G>A MELA-AU 2 100919445 100919445 single base substitution C T missense_variant E44K 130G>A MELA-AU 2 100919481 100919481 single base substitution G A missense_variant L275F 823C>T MELA-AU 2 100919481 100919481 single base substitution G A missense_variant L32F 94C>T MELA-AU 2 100919727 100919727 single base substitution G A intron_variant MELA-AU 2 100919741 100919741 single base substitution G A intron_variant MELA-AU 2 100919768 100919768 single base substitution G A intron_variant MELA-AU 2 100919796 100919796 single base substitution C T intron_variant MELA-AU 2 100919845 100919845 single base substitution C T intron_variant MELA-AU 2 100919906 100919906 single base substitution C T intron_variant MELA-AU 2 100919964 100919964 single base substitution C T intron_variant MELA-AU 2 100920119 100920119 single base substitution T C intron_variant MELA-AU 2 100920330 100920330 single base substitution C T intron_variant MELA-AU 2 100920360 100920360 single base substitution C T intron_variant MELA-AU 2 100920603 100920603 single base substitution C T intron_variant MELA-AU 2 100920625 100920625 single base substitution C T intron_variant MELA-AU 2 100920698 100920698 single base substitution C T intron_variant MELA-AU 2 100920824 100920824 single base substitution G A intron_variant MELA-AU 2 100920886 100920886 single base substitution G A intron_variant MELA-AU 2 100920910 100920910 single base substitution C T intron_variant MELA-AU 2 100920911 100920911 single base substitution C T intron_variant MELA-AU 2 100920932 100920932 single base substitution C T intron_variant MELA-AU 2 100920972 100920972 single base substitution C T intron_variant MELA-AU 2 100921008 100921008 single base substitution T C intron_variant MELA-AU 2 100921041 100921041 single base substitution G A intron_variant MELA-AU 2 100921189 100921189 single base substitution G A intron_variant MELA-AU 2 100921237 100921237 single base substitution C T intron_variant MELA-AU 2 100921403 100921403 single base substitution C T intron_variant MELA-AU 2 100921575 100921575 single base substitution G A intron_variant MELA-AU 2 100921698 100921698 single base substitution C T intron_variant MELA-AU 2 100921829 100921829 single base substitution C A intron_variant MELA-AU 2 100922036 100922036 single base substitution C G intron_variant MELA-AU 2 100922117 100922117 single base substitution G A intron_variant MELA-AU 2 100922152 100922152 single base substitution C T intron_variant MELA-AU 2 100922161 100922161 single base substitution C T intron_variant MELA-AU 2 100922199 100922199 single base substitution C T intron_variant MELA-AU 2 100922357 100922357 single base substitution T A intron_variant MELA-AU 2 100922404 100922404 single base substitution G A intron_variant MELA-AU 2 100922441 100922441 single base substitution C T intron_variant MELA-AU 2 100922678 100922678 single base substitution G A intron_variant MELA-AU 2 100922775 100922775 single base substitution C T intron_variant MELA-AU 2 100922963 100922963 single base substitution C T intron_variant MELA-AU 2 100923267 100923267 single base substitution C T intron_variant MELA-AU 2 100923385 100923385 single base substitution C T intron_variant MELA-AU 2 100923391 100923391 single base substitution T A intron_variant MELA-AU 2 100923465 100923465 single base substitution C T intron_variant MELA-AU 2 100923617 100923617 single base substitution C T intron_variant MELA-AU 2 100923620 100923620 single base substitution G A intron_variant MELA-AU 2 100923652 100923652 single base substitution G A intron_variant MELA-AU 2 100923688 100923688 single base substitution T A intron_variant MELA-AU 2 100923907 100923907 single base substitution T C intron_variant MELA-AU 2 100923927 100923927 single base substitution G A intron_variant MELA-AU 2 100924066 100924066 single base substitution G A intron_variant MELA-AU 2 100924103 100924103 single base substitution G A intron_variant MELA-AU 2 100924376 100924376 single base substitution G A intron_variant MELA-AU 2 100924461 100924462 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 2 100924544 100924544 single base substitution G A intron_variant MELA-AU 2 100924567 100924567 single base substitution C T intron_variant MELA-AU 2 100924759 100924759 single base substitution G A intron_variant MELA-AU 2 100924814 100924814 single base substitution G A intron_variant MELA-AU 2 100924958 100924958 single base substitution C T intron_variant MELA-AU 2 100925029 100925029 single base substitution T G intron_variant MELA-AU 2 100925069 100925069 single base substitution C T intron_variant MELA-AU 2 100925672 100925672 single base substitution G A 5_prime_UTR_variant MELA-AU 2 100925672 100925672 single base substitution G A missense_variant S232L 695C>T MELA-AU 2 100925679 100925679 single base substitution C T 5_prime_UTR_variant MELA-AU 2 100925679 100925679 single base substitution C T missense_variant D230N 688G>A MELA-AU 2 100925975 100925975 single base substitution C T intron_variant MELA-AU 2 100925975 100925975 single base substitution C T upstream_gene_variant MELA-AU 2 100926349 100926349 single base substitution G A intron_variant MELA-AU 2 100926349 100926349 single base substitution G A upstream_gene_variant MELA-AU 2 100926390 100926390 single base substitution C T intron_variant MELA-AU 2 100926390 100926390 single base substitution C T upstream_gene_variant MELA-AU 2 100926412 100926413 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 100926412 100926413 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 100926532 100926532 single base substitution C T intron_variant MELA-AU 2 100926532 100926532 single base substitution C T upstream_gene_variant MELA-AU 2 100926651 100926651 single base substitution G A intron_variant MELA-AU 2 100926651 100926651 single base substitution G A upstream_gene_variant MELA-AU 2 100926771 100926771 single base substitution G A intron_variant MELA-AU 2 100926771 100926771 single base substitution G A upstream_gene_variant MELA-AU 2 100926782 100926782 single base substitution G A intron_variant MELA-AU 2 100926782 100926782 single base substitution G A upstream_gene_variant MELA-AU 2 100927437 100927437 single base substitution C T intron_variant MELA-AU 2 100927437 100927437 single base substitution C T upstream_gene_variant MELA-AU 2 100927556 100927556 single base substitution G A intron_variant MELA-AU 2 100927556 100927556 single base substitution G A upstream_gene_variant MELA-AU 2 100927743 100927743 single base substitution C T intron_variant MELA-AU 2 100927743 100927743 single base substitution C T upstream_gene_variant MELA-AU 2 100927747 100927747 single base substitution G A intron_variant MELA-AU 2 100927747 100927747 single base substitution G A upstream_gene_variant MELA-AU 2 100927757 100927757 single base substitution G A intron_variant MELA-AU 2 100927757 100927757 single base substitution G A upstream_gene_variant MELA-AU 2 100927796 100927796 single base substitution C T intron_variant MELA-AU 2 100927796 100927796 single base substitution C T upstream_gene_variant MELA-AU 2 100927833 100927833 single base substitution G T intron_variant MELA-AU 2 100927833 100927833 single base substitution G T upstream_gene_variant MELA-AU 2 100927855 100927855 single base substitution G A intron_variant MELA-AU 2 100927855 100927855 single base substitution G A upstream_gene_variant MELA-AU 2 100927904 100927904 single base substitution G A intron_variant MELA-AU 2 100927904 100927904 single base substitution G A upstream_gene_variant MELA-AU 2 100927924 100927924 single base substitution G A intron_variant MELA-AU 2 100927924 100927924 single base substitution G A upstream_gene_variant MELA-AU 2 100928094 100928094 single base substitution G A intron_variant MELA-AU 2 100928094 100928094 single base substitution G A upstream_gene_variant MELA-AU 2 100928193 100928193 single base substitution C T intron_variant MELA-AU 2 100928193 100928193 single base substitution C T upstream_gene_variant MELA-AU 2 100928308 100928308 single base substitution G A intron_variant MELA-AU 2 100928308 100928308 single base substitution G A upstream_gene_variant MELA-AU 2 100928534 100928534 single base substitution C T intron_variant MELA-AU 2 100928534 100928534 single base substitution C T upstream_gene_variant MELA-AU 2 100928560 100928560 single base substitution G A intron_variant MELA-AU 2 100928560 100928560 single base substitution G A upstream_gene_variant MELA-AU 2 100928747 100928747 single base substitution C T intron_variant MELA-AU 2 100928747 100928747 single base substitution C T upstream_gene_variant MELA-AU 2 100928748 100928748 single base substitution C T intron_variant MELA-AU 2 100928748 100928748 single base substitution C T upstream_gene_variant MELA-AU 2 100928832 100928832 single base substitution C T intron_variant MELA-AU 2 100928832 100928832 single base substitution C T upstream_gene_variant MELA-AU 2 100928889 100928889 single base substitution C T intron_variant MELA-AU 2 100928889 100928889 single base substitution C T upstream_gene_variant MELA-AU 2 100928954 100928954 single base substitution C T intron_variant MELA-AU 2 100928954 100928954 single base substitution C T upstream_gene_variant MELA-AU 2 100929258 100929258 single base substitution T G intron_variant MELA-AU 2 100929258 100929258 single base substitution T G upstream_gene_variant MELA-AU 2 100929472 100929472 single base substitution A G intron_variant MELA-AU 2 100929472 100929472 single base substitution A G upstream_gene_variant MELA-AU 2 100929521 100929521 single base substitution C T intron_variant MELA-AU 2 100929521 100929521 single base substitution C T upstream_gene_variant MELA-AU 2 100929704 100929704 single base substitution C T intron_variant MELA-AU 2 100929704 100929704 single base substitution C T upstream_gene_variant MELA-AU 2 100929725 100929725 single base substitution G T intron_variant MELA-AU 2 100929725 100929725 single base substitution G T upstream_gene_variant MELA-AU 2 100929729 100929730 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 100929729 100929730 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 100929887 100929887 single base substitution G A intron_variant MELA-AU 2 100929887 100929887 single base substitution G A upstream_gene_variant MELA-AU 2 100930176 100930176 single base substitution A C intron_variant MELA-AU 2 100930176 100930176 single base substitution A C upstream_gene_variant MELA-AU 2 100930199 100930199 single base substitution C T intron_variant MELA-AU 2 100930199 100930199 single base substitution C T upstream_gene_variant MELA-AU 2 100930297 100930297 single base substitution A G intron_variant MELA-AU 2 100930297 100930297 single base substitution A G upstream_gene_variant MELA-AU 2 100930379 100930379 single base substitution A C intron_variant MELA-AU 2 100930379 100930379 single base substitution A C upstream_gene_variant MELA-AU 2 100930380 100930380 single base substitution A G intron_variant MELA-AU 2 100930380 100930380 single base substitution A G upstream_gene_variant MELA-AU 2 100930605 100930605 single base substitution C T intron_variant MELA-AU 2 100930605 100930605 single base substitution C T upstream_gene_variant MELA-AU 2 100931178 100931178 single base substitution C T intron_variant MELA-AU 2 100931193 100931193 single base substitution C T intron_variant MELA-AU 2 100931223 100931223 single base substitution C T intron_variant MELA-AU 2 100931237 100931237 single base substitution C T intron_variant MELA-AU 2 100931249 100931249 single base substitution C T intron_variant MELA-AU 2 100931383 100931383 single base substitution C T intron_variant MELA-AU 2 100931434 100931434 single base substitution C T intron_variant MELA-AU 2 100931487 100931487 single base substitution C T intron_variant MELA-AU 2 100931498 100931498 single base substitution G A intron_variant MELA-AU 2 100931616 100931616 single base substitution G A intron_variant MELA-AU 2 100931660 100931660 single base substitution G A intron_variant MELA-AU 2 100931673 100931673 single base substitution G A intron_variant MELA-AU 2 100931674 100931674 single base substitution G A intron_variant MELA-AU 2 100931742 100931742 single base substitution G A intron_variant MELA-AU 2 100931785 100931785 single base substitution C T intron_variant MELA-AU 2 100931873 100931873 single base substitution C T intron_variant MELA-AU 2 100931977 100931977 single base substitution A C intron_variant MELA-AU 2 100932005 100932005 single base substitution C T intron_variant MELA-AU 2 100932186 100932186 single base substitution C T intron_variant MELA-AU 2 100932221 100932221 single base substitution T G intron_variant MELA-AU 2 100932236 100932236 single base substitution C T intron_variant MELA-AU 2 100932319 100932319 single base substitution C T intron_variant MELA-AU 2 100932337 100932337 single base substitution C T intron_variant MELA-AU 2 100932347 100932347 single base substitution G A intron_variant MELA-AU 2 100932414 100932419 deletion of <=200bp GTTTCC - intron_variant MELA-AU 2 100932417 100932417 single base substitution T C intron_variant MELA-AU 2 100932418 100932418 single base substitution C T intron_variant MELA-AU 2 100932735 100932735 single base substitution C T intron_variant MELA-AU 2 100933059 100933059 single base substitution G A intron_variant MELA-AU 2 100933104 100933104 single base substitution T C intron_variant MELA-AU 2 100933267 100933267 single base substitution C T intron_variant MELA-AU 2 100933285 100933285 single base substitution C T intron_variant MELA-AU 2 100933342 100933343 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 2 100933408 100933408 single base substitution C T intron_variant MELA-AU 2 100933416 100933416 single base substitution C T intron_variant MELA-AU 2 100933575 100933575 single base substitution C T intron_variant MELA-AU 2 100933605 100933605 single base substitution G A intron_variant MELA-AU 2 100933709 100933709 single base substitution C T intron_variant MELA-AU 2 100933759 100933760 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 2 100933924 100933924 single base substitution C T intron_variant MELA-AU 2 100934538 100934538 single base substitution C T intron_variant MELA-AU 2 100934541 100934541 single base substitution C T intron_variant MELA-AU 2 100934542 100934542 single base substitution C T intron_variant MELA-AU 2 100934670 100934670 single base substitution C T intron_variant MELA-AU 2 100935087 100935087 single base substitution G A intron_variant MELA-AU 2 100935099 100935099 single base substitution G A intron_variant MELA-AU 2 100935232 100935232 single base substitution T C intron_variant MELA-AU 2 100935243 100935243 single base substitution G A intron_variant MELA-AU 2 100935336 100935336 single base substitution G A intron_variant MELA-AU 2 100935398 100935398 single base substitution C T intron_variant MELA-AU 2 100935742 100935742 single base substitution G A intron_variant MELA-AU 2 100935785 100935785 single base substitution G A intron_variant MELA-AU 2 100935901 100935901 single base substitution C T intron_variant MELA-AU 2 100935972 100935972 single base substitution C T intron_variant MELA-AU 2 100935993 100935993 single base substitution A C intron_variant MELA-AU 2 100936411 100936411 single base substitution A T intron_variant MELA-AU 2 100936523 100936523 single base substitution G A intron_variant MELA-AU 2 100936658 100936658 single base substitution A T intron_variant MELA-AU 2 100936670 100936670 single base substitution G A intron_variant MELA-AU 2 100936676 100936676 single base substitution C T intron_variant MELA-AU 2 100936881 100936881 single base substitution A G intron_variant MELA-AU 2 100937036 100937036 single base substitution G A intron_variant MELA-AU 2 100937566 100937566 single base substitution C T intron_variant MELA-AU 2 100937850 100937850 single base substitution G A intron_variant MELA-AU 2 100937863 100937863 single base substitution C T intron_variant MELA-AU 2 100938990 100938990 single base substitution C T 5_prime_UTR_variant MELA-AU 2 100939297 100939297 single base substitution G A upstream_gene_variant MELA-AU 2 100939611 100939611 single base substitution T C upstream_gene_variant MELA-AU 2 100940015 100940015 single base substitution G A upstream_gene_variant MELA-AU 2 100940111 100940111 single base substitution G A upstream_gene_variant MELA-AU 2 100940474 100940474 single base substitution C T upstream_gene_variant MELA-AU 2 100940494 100940494 single base substitution G A upstream_gene_variant MELA-AU 2 100940755 100940755 single base substitution A T upstream_gene_variant MELA-AU 2 100940935 100940935 single base substitution C A upstream_gene_variant MELA-AU 2 100940971 100940971 single base substitution G A upstream_gene_variant MELA-AU 2 100941132 100941132 single base substitution T G upstream_gene_variant MELA-AU 2 100941253 100941253 single base substitution A T upstream_gene_variant MELA-AU 2 100941547 100941547 single base substitution G A upstream_gene_variant MELA-AU 2 100941581 100941581 single base substitution C A upstream_gene_variant MELA-AU 2 100941740 100941741 multiple base substitution (>=2bp and <=200bp) GA AC upstream_gene_variant MELA-AU 2 100942203 100942203 single base substitution G A upstream_gene_variant MELA-AU 2 100942464 100942464 single base substitution A G upstream_gene_variant MELA-AU 2 100942466 100942466 single base substitution C T upstream_gene_variant MELA-AU 2 100942749 100942749 single base substitution G A upstream_gene_variant MELA-AU 2 100943468 100943468 single base substitution C T upstream_gene_variant MELA-AU 2 100943493 100943493 single base substitution C T upstream_gene_variant MELA-AU 2 100943744 100943744 single base substitution G A upstream_gene_variant MELA-AU 2 100943806 100943806 single base substitution G T upstream_gene_variant MELA-AU 2 100943981 100943981 single base substitution G A upstream_gene_variant MELA-AU 2 100944063 100944063 single base substitution C T upstream_gene_variant ORCA-IN 2 100903452 100903452 single base substitution G A missense_variant A422V 1265C>T ORCA-IN 2 100903452 100903452 single base substitution G A missense_variant A665V 1994C>T ORCA-IN 2 100903486 100903486 single base substitution C T missense_variant D411N 1231G>A ORCA-IN 2 100903486 100903486 single base substitution C T missense_variant D654N 1960G>A ORCA-IN 2 100906683 100906683 single base substitution C T intron_variant ORCA-IN 2 100925048 100925048 single base substitution C G intron_variant ORCA-IN 2 100936271 100936271 single base substitution A T intron_variant ORCA-IN 2 100941371 100941371 single base substitution C T upstream_gene_variant OV-AU 2 100888989 100888989 single base substitution C G downstream_gene_variant OV-AU 2 100892977 100892977 single base substitution C T 3_prime_UTR_variant OV-AU 2 100893715 100893715 single base substitution C T 3_prime_UTR_variant OV-AU 2 100900034 100900034 single base substitution T A 3_prime_UTR_variant OV-AU 2 100900837 100900837 single base substitution G C missense_variant R487G 1459C>G OV-AU 2 100900837 100900837 single base substitution G C missense_variant R730G 2188C>G OV-AU 2 100904433 100904433 single base substitution T C intron_variant OV-AU 2 100912046 100912046 single base substitution A T intron_variant OV-AU 2 100914715 100914715 single base substitution C T intron_variant OV-AU 2 100939087 100939087 single base substitution C G 5_prime_UTR_variant PACA-AU 2 100886946 100886946 single base substitution C G downstream_gene_variant PACA-AU 2 100895487 100895487 single base substitution C T 3_prime_UTR_variant PACA-AU 2 100895487 100895487 single base substitution C T downstream_gene_variant PACA-AU 2 100895632 100895632 single base substitution C T 3_prime_UTR_variant PACA-AU 2 100895632 100895632 single base substitution C T downstream_gene_variant PACA-AU 2 100901009 100901009 single base substitution C G intron_variant PACA-AU 2 100901630 100901630 single base substitution C G intron_variant PACA-AU 2 100903228 100903228 single base substitution C T intron_variant PACA-AU 2 100914203 100914203 single base substitution G A intron_variant PACA-AU 2 100916957 100916957 single base substitution C A intron_variant PACA-AU 2 100920951 100920951 single base substitution A C intron_variant PACA-AU 2 100925657 100925657 single base substitution C T 5_prime_UTR_variant PACA-AU 2 100925657 100925657 single base substitution C T missense_variant R237Q 710G>A PACA-AU 2 100925749 100925749 single base substitution A C intron_variant PACA-AU 2 100926141 100926141 single base substitution C T intron_variant PACA-AU 2 100926141 100926141 single base substitution C T upstream_gene_variant PACA-AU 2 100931727 100931727 single base substitution T G intron_variant PACA-AU 2 100933304 100933304 single base substitution G A intron_variant PACA-AU 2 100934687 100934687 single base substitution C T intron_variant PACA-AU 2 100934920 100934920 single base substitution C T intron_variant PACA-AU 2 100938325 100938325 single base substitution G A synonymous_variant A77A 231C>T PACA-CA 2 100884812 100884812 single base substitution C A downstream_gene_variant PACA-CA 2 100885397 100885397 single base substitution A T downstream_gene_variant PACA-CA 2 100888989 100888989 single base substitution C T downstream_gene_variant PACA-CA 2 100894652 100894652 single base substitution G A 3_prime_UTR_variant PACA-CA 2 100896241 100896241 single base substitution C T 3_prime_UTR_variant PACA-CA 2 100896241 100896241 single base substitution C T downstream_gene_variant PACA-CA 2 100897511 100897511 single base substitution T A 3_prime_UTR_variant PACA-CA 2 100897511 100897511 single base substitution T A downstream_gene_variant PACA-CA 2 100899746 100899746 single base substitution G A 3_prime_UTR_variant PACA-CA 2 100899746 100899746 single base substitution G A downstream_gene_variant PACA-CA 2 100903748 100903748 single base substitution G A intron_variant PACA-CA 2 100903762 100903762 single base substitution A C intron_variant PACA-CA 2 100910763 100910763 single base substitution C A missense_variant R319L 956G>T PACA-CA 2 100910763 100910763 single base substitution C A missense_variant R562L 1685G>T PACA-CA 2 100912667 100912667 single base substitution C T intron_variant PACA-CA 2 100920479 100920479 single base substitution T C intron_variant PACA-CA 2 100927758 100927758 insertion of <=200bp - A intron_variant PACA-CA 2 100927758 100927758 insertion of <=200bp - A upstream_gene_variant PACA-CA 2 100932960 100932960 single base substitution C A intron_variant PACA-CA 2 100937631 100937631 deletion of <=200bp G - intron_variant PACA-CA 2 100939839 100939839 single base substitution A G upstream_gene_variant PACA-CA 2 100940378 100940378 single base substitution A G upstream_gene_variant PACA-CA 2 100941673 100941673 single base substitution G A upstream_gene_variant PACA-CA 2 100942881 100942881 deletion of <=200bp T - upstream_gene_variant PACA-CA 2 100943828 100943828 deletion of <=200bp T - upstream_gene_variant PAEN-AU 2 100899489 100899489 single base substitution T C 3_prime_UTR_variant PAEN-AU 2 100899489 100899489 single base substitution T C downstream_gene_variant PAEN-AU 2 100932739 100932739 single base substitution C T intron_variant PAEN-IT 2 100885480 100885480 single base substitution C T downstream_gene_variant PAEN-IT 2 100943427 100943427 single base substitution A G upstream_gene_variant PBCA-DE 2 100885762 100885762 single base substitution C T downstream_gene_variant PBCA-DE 2 100891973 100891973 single base substitution G A 3_prime_UTR_variant PBCA-DE 2 100900039 100900040 deletion of <=200bp AT - 3_prime_UTR_variant PBCA-DE 2 100915991 100915991 single base substitution C A intron_variant PBCA-DE 2 100916627 100916627 single base substitution G A intron_variant PBCA-DE 2 100922538 100922538 single base substitution G T intron_variant PBCA-DE 2 100923854 100923854 single base substitution G A intron_variant PRAD-CA 2 100887947 100887947 single base substitution G A downstream_gene_variant PRAD-CA 2 100911951 100911951 single base substitution G A missense_variant P271L 812C>T PRAD-CA 2 100911951 100911951 single base substitution G A missense_variant P514L 1541C>T PRAD-CA 2 100916627 100916627 single base substitution G A intron_variant PRAD-CA 2 100937309 100937309 single base substitution A C intron_variant PRAD-CA 2 100939755 100939755 single base substitution T C upstream_gene_variant PRAD-UK 2 100894824 100894824 single base substitution G T 3_prime_UTR_variant PRAD-UK 2 100901031 100901031 deletion of <=200bp C - intron_variant PRAD-US 2 100916210 100916210 single base substitution G C missense_variant D169E 507C>G PRAD-US 2 100916210 100916210 single base substitution G C missense_variant D412E 1236C>G READ-US 2 100911961 100911961 single base substitution G A stop_gained R268* 802C>T READ-US 2 100911961 100911961 single base substitution G A stop_gained R511* 1531C>T READ-US 2 100916291 100916291 single base substitution C A missense_variant K142N 426G>T READ-US 2 100916291 100916291 single base substitution C A missense_variant K385N 1155G>T READ-US 2 100916305 100916305 single base substitution C T missense_variant E138K 412G>A READ-US 2 100916305 100916305 single base substitution C T missense_variant E381K 1141G>A RECA-EU 2 100888176 100888176 single base substitution G A downstream_gene_variant RECA-EU 2 100889662 100889662 single base substitution G A downstream_gene_variant RECA-EU 2 100900005 100900005 single base substitution C G 3_prime_UTR_variant RECA-EU 2 100901935 100901935 single base substitution G A intron_variant RECA-EU 2 100903957 100903957 single base substitution C G intron_variant RECA-EU 2 100908410 100908410 single base substitution G A intron_variant RECA-EU 2 100910706 100910706 single base substitution G T missense_variant S338Y 1013C>A RECA-EU 2 100910706 100910706 single base substitution G T missense_variant S581Y 1742C>A RECA-EU 2 100912418 100912418 single base substitution G A intron_variant RECA-EU 2 100926166 100926166 single base substitution G A intron_variant RECA-EU 2 100926166 100926166 single base substitution G A upstream_gene_variant RECA-EU 2 100926650 100926650 single base substitution C T intron_variant RECA-EU 2 100926650 100926650 single base substitution C T upstream_gene_variant RECA-EU 2 100930817 100930817 single base substitution G A intron_variant RECA-EU 2 100930817 100930817 single base substitution G A upstream_gene_variant RECA-EU 2 100932797 100932797 single base substitution A G intron_variant RECA-EU 2 100933375 100933375 single base substitution C G intron_variant RECA-EU 2 100934085 100934085 single base substitution T C intron_variant RECA-EU 2 100936511 100936511 single base substitution A G intron_variant RECA-EU 2 100939205 100939205 single base substitution G C upstream_gene_variant RECA-EU 2 100943700 100943700 single base substitution T A upstream_gene_variant SKCA-BR 2 100884809 100884809 single base substitution C T downstream_gene_variant SKCA-BR 2 100885059 100885059 single base substitution G A downstream_gene_variant SKCA-BR 2 100885131 100885132 deletion of <=200bp TC - downstream_gene_variant SKCA-BR 2 100885358 100885358 single base substitution G A downstream_gene_variant SKCA-BR 2 100887331 100887331 single base substitution G A downstream_gene_variant SKCA-BR 2 100888294 100888294 single base substitution G A downstream_gene_variant SKCA-BR 2 100889617 100889617 single base substitution C T downstream_gene_variant SKCA-BR 2 100889618 100889618 single base substitution C T downstream_gene_variant SKCA-BR 2 100891479 100891479 single base substitution T C 3_prime_UTR_variant SKCA-BR 2 100891960 100891960 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 100892517 100892517 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 100892518 100892518 single base substitution C A 3_prime_UTR_variant SKCA-BR 2 100892984 100892984 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 100894276 100894276 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 100895518 100895518 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 100895518 100895518 single base substitution G A downstream_gene_variant SKCA-BR 2 100895609 100895609 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 100895609 100895609 single base substitution C T downstream_gene_variant SKCA-BR 2 100895670 100895670 single base substitution A C 3_prime_UTR_variant SKCA-BR 2 100895670 100895670 single base substitution A C downstream_gene_variant SKCA-BR 2 100895805 100895805 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 100895805 100895805 single base substitution G A downstream_gene_variant SKCA-BR 2 100896533 100896533 single base substitution C A 3_prime_UTR_variant SKCA-BR 2 100896533 100896533 single base substitution C A downstream_gene_variant SKCA-BR 2 100897742 100897742 single base substitution T G 3_prime_UTR_variant SKCA-BR 2 100897742 100897742 single base substitution T G downstream_gene_variant SKCA-BR 2 100897813 100897813 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 100897813 100897813 single base substitution C T downstream_gene_variant SKCA-BR 2 100899254 100899254 insertion of <=200bp - GACTGAGTTTTATCT 3_prime_UTR_variant SKCA-BR 2 100899254 100899254 insertion of <=200bp - GACTGAGTTTTATCT downstream_gene_variant SKCA-BR 2 100899328 100899328 insertion of <=200bp - TA 3_prime_UTR_variant SKCA-BR 2 100899328 100899328 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 2 100899990 100899990 single base substitution T A 3_prime_UTR_variant SKCA-BR 2 100899990 100899990 single base substitution T A downstream_gene_variant SKCA-BR 2 100901249 100901249 single base substitution C G intron_variant SKCA-BR 2 100902038 100902038 single base substitution G A intron_variant SKCA-BR 2 100902630 100902630 insertion of <=200bp - GA intron_variant SKCA-BR 2 100908489 100908489 single base substitution G A intron_variant SKCA-BR 2 100910017 100910017 single base substitution G A intron_variant SKCA-BR 2 100910108 100910108 single base substitution G A intron_variant SKCA-BR 2 100910526 100910526 single base substitution G A intron_variant SKCA-BR 2 100912224 100912224 single base substitution G A intron_variant SKCA-BR 2 100914144 100914144 single base substitution G A intron_variant SKCA-BR 2 100914145 100914145 single base substitution G A intron_variant SKCA-BR 2 100915470 100915470 single base substitution G A intron_variant SKCA-BR 2 100916481 100916481 insertion of <=200bp - AGG intron_variant SKCA-BR 2 100918110 100918110 single base substitution C T intron_variant SKCA-BR 2 100918325 100918325 single base substitution G A intron_variant SKCA-BR 2 100919364 100919364 single base substitution C T intron_variant SKCA-BR 2 100921033 100921033 single base substitution C T intron_variant SKCA-BR 2 100921087 100921087 insertion of <=200bp - GTTTT intron_variant SKCA-BR 2 100921453 100921453 single base substitution C T intron_variant SKCA-BR 2 100923295 100923295 single base substitution C T intron_variant SKCA-BR 2 100924052 100924052 single base substitution A G intron_variant SKCA-BR 2 100924559 100924559 single base substitution T C intron_variant SKCA-BR 2 100924761 100924761 single base substitution A G intron_variant SKCA-BR 2 100926198 100926198 single base substitution G A intron_variant SKCA-BR 2 100926198 100926198 single base substitution G A upstream_gene_variant SKCA-BR 2 100927261 100927261 single base substitution A T intron_variant SKCA-BR 2 100927261 100927261 single base substitution A T upstream_gene_variant SKCA-BR 2 100928426 100928426 single base substitution C T intron_variant SKCA-BR 2 100928426 100928426 single base substitution C T upstream_gene_variant SKCA-BR 2 100928473 100928473 single base substitution A C intron_variant SKCA-BR 2 100928473 100928473 single base substitution A C upstream_gene_variant SKCA-BR 2 100929318 100929318 single base substitution C T intron_variant SKCA-BR 2 100929318 100929318 single base substitution C T upstream_gene_variant SKCA-BR 2 100932336 100932336 single base substitution C T intron_variant SKCA-BR 2 100932530 100932530 single base substitution C T intron_variant SKCA-BR 2 100932531 100932531 single base substitution C T intron_variant SKCA-BR 2 100932577 100932577 single base substitution C T intron_variant SKCA-BR 2 100932735 100932735 single base substitution C T intron_variant SKCA-BR 2 100932797 100932797 insertion of <=200bp - AAG intron_variant SKCA-BR 2 100934050 100934050 single base substitution G A intron_variant SKCA-BR 2 100934166 100934166 single base substitution G A intron_variant SKCA-BR 2 100935582 100935582 insertion of <=200bp - TAA intron_variant SKCA-BR 2 100936246 100936246 single base substitution C T intron_variant SKCA-BR 2 100936291 100936291 single base substitution G T intron_variant SKCA-BR 2 100939779 100939779 single base substitution G A upstream_gene_variant SKCA-BR 2 100940684 100940684 single base substitution G A upstream_gene_variant SKCA-BR 2 100941030 100941030 single base substitution C T upstream_gene_variant SKCA-BR 2 100941076 100941076 single base substitution G A upstream_gene_variant SKCA-BR 2 100941232 100941232 single base substitution G A upstream_gene_variant SKCA-BR 2 100942483 100942483 single base substitution A G upstream_gene_variant SKCA-BR 2 100942926 100942926 single base substitution G A upstream_gene_variant SKCA-BR 2 100943342 100943342 single base substitution G A upstream_gene_variant SKCA-BR 2 100943714 100943714 single base substitution G A upstream_gene_variant SKCM-US 2 100903441 100903441 single base substitution C T missense_variant D426N 1276G>A SKCM-US 2 100903441 100903441 single base substitution C T missense_variant D669N 2005G>A SKCM-US 2 100903447 100903447 single base substitution G A missense_variant L424F 1270C>T SKCM-US 2 100903447 100903447 single base substitution G A missense_variant L667F 1999C>T SKCM-US 2 100903486 100903486 single base substitution C T missense_variant D411N 1231G>A SKCM-US 2 100903486 100903486 single base substitution C T missense_variant D654N 1960G>A SKCM-US 2 100903504 100903504 single base substitution C T missense_variant E405K 1213G>A SKCM-US 2 100903504 100903504 single base substitution C T missense_variant E648K 1942G>A SKCM-US 2 100906787 100906787 single base substitution C A missense_variant R375L 1124G>T SKCM-US 2 100906787 100906787 single base substitution C A missense_variant R618L 1853G>T SKCM-US 2 100910764 100910764 single base substitution G A missense_variant R319W 955C>T SKCM-US 2 100910764 100910764 single base substitution G A missense_variant R562W 1684C>T SKCM-US 2 100911913 100911913 single base substitution C T missense_variant E284K 850G>A SKCM-US 2 100911913 100911913 single base substitution C T missense_variant E527K 1579G>A SKCM-US 2 100915380 100915380 single base substitution C T missense_variant G222E 665G>A SKCM-US 2 100915380 100915380 single base substitution C T missense_variant G465E 1394G>A SKCM-US 2 100917174 100917174 single base substitution T G missense_variant K333Q 997A>C SKCM-US 2 100917174 100917174 single base substitution T G missense_variant K90Q 268A>C SKCM-US 2 100919445 100919445 single base substitution C T missense_variant E287K 859G>A SKCM-US 2 100919445 100919445 single base substitution C T missense_variant E44K 130G>A SKCM-US 2 100919490 100919490 single base substitution C T missense_variant A272T 814G>A SKCM-US 2 100919490 100919490 single base substitution C T missense_variant A29T 85G>A SKCM-US 2 100925618 100925618 single base substitution G A missense_variant A250V 749C>T SKCM-US 2 100925618 100925618 single base substitution G A missense_variant A7V 20C>T SKCM-US 2 100925672 100925672 single base substitution G A 5_prime_UTR_variant SKCM-US 2 100925672 100925672 single base substitution G A missense_variant S232L 695C>T SKCM-US 2 100925677 100925677 single base substitution A T 5_prime_UTR_variant SKCM-US 2 100925677 100925677 single base substitution A T missense_variant D230E 690T>A STAD-US 2 100906748 100906748 single base substitution G A missense_variant A388V 1163C>T STAD-US 2 100906748 100906748 single base substitution G A missense_variant A631V 1892C>T STAD-US 2 100906807 100906807 single base substitution C T synonymous_variant A368A 1104G>A STAD-US 2 100906807 100906807 single base substitution C T synonymous_variant A611A 1833G>A STAD-US 2 100912008 100912008 single base substitution G T missense_variant A252E 755C>A STAD-US 2 100912008 100912008 single base substitution G T missense_variant A495E 1484C>A STAD-US 2 100916228 100916228 single base substitution G A synonymous_variant D163D 489C>T STAD-US 2 100916228 100916228 single base substitution G A synonymous_variant D406D 1218C>T STAD-US 2 100916256 100916256 single base substitution G A missense_variant A154V 461C>T STAD-US 2 100916256 100916256 single base substitution G A missense_variant A397V 1190C>T STAD-US 2 100917224 100917224 single base substitution G C missense_variant A316G 947C>G STAD-US 2 100917224 100917224 single base substitution G C missense_variant A73G 218C>G STAD-US 2 100938413 100938413 single base substitution G A missense_variant S48F 143C>T THCA-SA 2 100896512 100896512 single base substitution G A 3_prime_UTR_variant THCA-SA 2 100896512 100896512 single base substitution G A downstream_gene_variant THCA-SA 2 100896964 100896964 single base substitution A G 3_prime_UTR_variant THCA-SA 2 100896964 100896964 single base substitution A G downstream_gene_variant THCA-SA 2 100896966 100896966 single base substitution G A 3_prime_UTR_variant THCA-SA 2 100896966 100896966 single base substitution G A downstream_gene_variant THCA-SA 2 100897351 100897351 single base substitution T A 3_prime_UTR_variant THCA-SA 2 100897351 100897351 single base substitution T A downstream_gene_variant THCA-SA 2 100897573 100897573 single base substitution G A 3_prime_UTR_variant THCA-SA 2 100897573 100897573 single base substitution G A downstream_gene_variant THCA-SA 2 100897674 100897674 single base substitution T A 3_prime_UTR_variant THCA-SA 2 100897674 100897674 single base substitution T A downstream_gene_variant THCA-SA 2 100898081 100898081 single base substitution T C 3_prime_UTR_variant THCA-SA 2 100898081 100898081 single base substitution T C downstream_gene_variant THCA-SA 2 100898634 100898634 single base substitution G T 3_prime_UTR_variant THCA-SA 2 100898634 100898634 single base substitution G T downstream_gene_variant THCA-SA 2 100899665 100899665 single base substitution G A 3_prime_UTR_variant THCA-SA 2 100899665 100899665 single base substitution G A downstream_gene_variant THCA-SA 2 100899676 100899676 single base substitution T C 3_prime_UTR_variant THCA-SA 2 100899676 100899676 single base substitution T C downstream_gene_variant THCA-SA 2 100900304 100900304 single base substitution T C 3_prime_UTR_variant THCA-SA 2 100900379 100900379 single base substitution C T 3_prime_UTR_variant THCA-SA 2 100900406 100900406 single base substitution G A 3_prime_UTR_variant THCA-SA 2 100915772 100915772 single base substitution A G missense_variant L183P 548T>C THCA-SA 2 100915772 100915772 single base substitution A G missense_variant L426P 1277T>C THCA-SA 2 100916306 100916306 single base substitution A G synonymous_variant F137F 411T>C THCA-SA 2 100916306 100916306 single base substitution A G synonymous_variant F380F 1140T>C THCA-US 2 100903492 100903492 single base substitution G C missense_variant L409V 1225C>G THCA-US 2 100903492 100903492 single base substitution G C missense_variant L652V 1954C>G UCEC-US 2 100900774 100900774 single base substitution C A stop_gained E508* 1522G>T UCEC-US 2 100900774 100900774 single base substitution C A stop_gained E751* 2251G>T UCEC-US 2 100900813 100900813 single base substitution G A missense_variant R495C 1483C>T UCEC-US 2 100900813 100900813 single base substitution G A missense_variant R738C 2212C>T UCEC-US 2 100903382 100903382 single base substitution C T synonymous_variant E445E 1335G>A UCEC-US 2 100903382 100903382 single base substitution C T synonymous_variant E688E 2064G>A UCEC-US 2 100915336 100915336 single base substitution C T missense_variant A237T 709G>A UCEC-US 2 100915336 100915336 single base substitution C T missense_variant A480T 1438G>A UCEC-US 2 100916234 100916234 single base substitution C T synonymous_variant P161P 483G>A UCEC-US 2 100916234 100916234 single base substitution C T synonymous_variant P404P 1212G>A UCEC-US 2 100917170 100917170 single base substitution G A missense_variant A334V 1001C>T UCEC-US 2 100917170 100917170 single base substitution G A missense_variant A91V 272C>T UCEC-US 2 100925600 100925600 single base substitution G A missense_variant A13V 38C>T UCEC-US 2 100925600 100925600 single base substitution G A missense_variant A256V 767C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PTC-50C COSM4132905 c.351C>T p.N117N Substitution - coding silent 2:100321743-100321743 - HCC174T COSM3708765 c.628C>T p.Q210* Substitution - Nonsense 2:100321466-100321466 - CSCC-4-T COSM4132908 c.75G>C p.Q25H Substitution - Missense 2:100322019-100322019 - TCGA-D7-6818-01 COSM4083727 c.1892C>T p.A631V Substitution - Missense 2:100290286-100290286 - I2L-P7-Tumor-Organoid COSM5354822 c.587G>A p.R196Q Substitution - Missense 2:100321507-100321507 - C84 COSM299957 c.1541C>T p.P514L Substitution - Missense 2:100295489-100295489 - TCGA-CG-4306-01 COSM2979764 c.1218C>T p.D406D Substitution - coding silent 2:100299766-100299766 - PR-00-1165 COSM245463 c.703C>T p.L235L Substitution - coding silent 2:100309202-100309202 - TCGA-B1-A655-01 COSM1737445 c.1994C>T p.A665V Substitution - Missense 2:100286990-100286990 - YULAN COSM1690811 c.742G>A p.E248K Substitution - Missense 2:100309163-100309163 - AOCS-080-1-9 COSM4128057 c.2188C>G p.R730G Substitution - Missense 2:100284375-100284375 - TCGA-D5-6927-01 COSM1398388 c.1832C>T p.A611V Substitution - Missense 2:100290346-100290346 - HCC2998 COSM1669164 c.2168A>C p.K723T Substitution - Missense 2:100284395-100284395 - TCGA-OL-A66I-01 COSM2979737 c.1994C>G p.A665G Substitution - Missense 2:100286990-100286990 - TCGA-AX-A0J1-01 COSM1004453 c.767C>T p.A256V Substitution - Missense 2:100309138-100309138 - U2940 COSM5621158 c.11A>T p.E4V Substitution - Missense 2:100322083-100322083 - TCGA-EE-A2MD-06 COSM3564263 c.859G>A p.E287K Substitution - Missense 2:100302983-100302983 - I2L-P24Ta-Tumor-Organoid COSM5354488 c.670C>G p.L224V Substitution - Missense 2:100321424-100321424 - TCGA-29-1695-01 COSM1326038 c.1141G>T p.E381* Substitution - Nonsense 2:100299843-100299843 - OSCC-GB_00490111 COSM3564257 c.1960G>A p.D654N Substitution - Missense 2:100287024-100287024 - CSCC-4-T COSM4560541 c.847G>A p.E283K Substitution - Missense 2:100302995-100302995 - TCGA-F5-6864-01 COSM4300893 c.1477-8T>G p.? Unknown 2:100295561-100295561 - SNUH_G26_S1 COSM1737445 c.1994C>T p.A665V Substitution - Missense 2:100286990-100286990 - ESCC_68 COSM5633939 c.1130G>C p.G377A Substitution - Missense 2:100299854-100299854 - BD225T COSM5508666 c.1051G>A p.A351T Substitution - Missense 2:100300658-100300658 - T3090 COSM4698378 c.552C>T p.S184S Substitution - coding silent 2:100321542-100321542 - RK135_C01 COSM3743234 c.824T>C p.L275P Substitution - Missense 2:100303018-100303018 - ESCC_55 COSM5631871 c.848A>G p.E283G Substitution - Missense 2:100302994-100302994 - CSCC-41-T COSM4451581 c.1298A>G p.E433G Substitution - Missense 2:100299289-100299289 - CSCC-60-T COSM4521072 c.1093G>A p.G365R Substitution - Missense 2:100299891-100299891 - TCGA-DM-A1HA-01 COSM1398390 c.1515C>T p.A505A Substitution - coding silent 2:100295515-100295515 - CRC-31T COSM1398389 c.1532G>A p.R511Q Substitution - Missense 2:100295498-100295498 - H1672 COSM312556 c.1342G>T p.E448* Substitution - Nonsense 2:100299245-100299245 - MD-146 COSM302568 c.2132_2133delAG p.K711fs*28 Deletion - Frameshift 2:100284430-100284431 - PCSI_0090_Pa_X COSM3379135 c.1685G>T p.R562L Substitution - Missense 2:100294301-100294301 - TCGA-CZ-5461-01 COSM475653 c.1377T>C p.P459P Substitution - coding silent 2:100298935-100298935 - 2492700 COSM5715980 c.1788T>G p.I596M Substitution - Missense 2:100290390-100290390 - CRC-19T COSM5481607 c.1358T>C p.M453T Substitution - Missense 2:100299229-100299229 - TCGA-D8-A1XQ-01 COSM3836387 c.775C>G p.Q259E Substitution - Missense 2:100309130-100309130 - 2521262 COSM5891675 c.968A>T p.N323I Substitution - Missense 2:100300741-100300741 - GC8_T COSM148913 c.1131T>C p.G377G Substitution - coding silent 2:100299853-100299853 - TCGA-CM-5861-01 COSM1398387 c.2089G>A p.A697T Substitution - Missense 2:100284474-100284474 - CSCC-41-T COSM4474977 c.1956C>T p.L652L Substitution - coding silent 2:100287028-100287028 - TCGA-DI-A0WH-01 COSM1004446 c.2239G>A p.A747T Substitution - Missense 2:100284324-100284324 - HN_62506 COSM124132 c.2072G>C p.S691T Substitution - Missense 2:100284491-100284491 - sysucc-1317T COSM5449461 c.529C>T p.R177W Substitution - Missense 2:100321565-100321565 - LS411 COSM4614499 c.1115_1116insT p.L372fs*10 Insertion - Frameshift 2:100299868-100299869 - MedB-1 COSM5621158 c.11A>T p.E4V Substitution - Missense 2:100322083-100322083 - 49T COSM3564257 c.1960G>A p.D654N Substitution - Missense 2:100287024-100287024 - TCGA-CD-5800-01 COSM4083729 c.1484C>A p.A495E Substitution - Missense 2:100295546-100295546 - CSCC-4-T COSM4515716 c.1267_1267+1GG>AA p.? Unknown 2:100299716-100299717 - LUAD-B00416 COSM331239 c.1584_1585GT>GT p.M528>? Complex 2:100295445-100295446 - TCGA-39-5029-01 COSM715002 c.522G>T p.P174P Substitution - coding silent 2:100321572-100321572 - 60T COSM109190 c.2077C>T p.P693S Substitution - Missense 2:100284486-100284486 - OSCC-GB_01300111 COSM1737445 c.1994C>T p.A665V Substitution - Missense 2:100286990-100286990 - S00836 COSM312557 c.1373A>G p.E458G Substitution - Missense 2:100298939-100298939 - I2L-P11-Tumor-Organoid COSM5354054 c.162G>T p.A54A Substitution - coding silent 2:100321932-100321932 - CSCC-7-T COSM4534224 c.2062G>T p.E688* Substitution - Nonsense 2:100286922-100286922 - TCGA-EK-A2PG-01 COSM1732700 c.713C>T p.A238V Substitution - Missense 2:100309192-100309192 - TCGA-CG-4469-01 COSM4083731 c.947C>G p.A316G Substitution - Missense 2:100300762-100300762 - 587244 COSM1213538 c.1666G>A p.V556I Substitution - Missense 2:100294320-100294320 - BD225T COSM5508665 c.1052C>T p.A351V Substitution - Missense 2:100300657-100300657 - TCGA-D3-A2JH-06 COSM3564256 c.1999C>T p.L667F Substitution - Missense 2:100286985-100286985 - CHEWS031 COSM4582537 c.1562A>G p.K521R Substitution - Missense 2:100295468-100295468 - P152 COSM1737445 c.1994C>T p.A665V Substitution - Missense 2:100286990-100286990 - 8016470 COSM3390818 c.710G>A p.R237Q Substitution - Missense 2:100309195-100309195 - App2312 COSM1737445 c.1994C>T p.A665V Substitution - Missense 2:100286990-100286990 - TCGA-DB-A4XD-01 COSM3971455 c.1327G>A p.D443N Substitution - Missense 2:100299260-100299260 - TCGA-ER-A19P-06 COSM3564263 c.859G>A p.E287K Substitution - Missense 2:100302983-100302983 - RD COSM4985827 c.391G>A p.A131T Substitution - Missense 2:100321703-100321703 - HCC174 COSM3708765 c.628C>T p.Q210* Substitution - Nonsense 2:100321466-100321466 - 1238_T COSM3960857 c.2211G>A p.T737T Substitution - coding silent 2:100284352-100284352 - TCGA-EI-6917-01 COSM126776 c.1531C>T p.R511* Substitution - Nonsense 2:100295499-100295499 - 01-P034 COSM3564259 c.1853G>T p.R618L Substitution - Missense 2:100290325-100290325 - TCGA-EE-A3AC-06 COSM32650 c.1684C>T p.R562W Substitution - Missense 2:100294302-100294302 - T2197 COSM4698375 c.2128C>T p.R710C Substitution - Missense 2:100284435-100284435 - 8036161 COSM3390819 c.231C>T p.A77A Substitution - coding silent 2:100321863-100321863 - HT115 COSM715006 c.1794C>T p.D598D Substitution - coding silent 2:100290384-100290384 - TCGA-C5-A1MK-01 COSM4827202 c.1993G>A p.A665T Substitution - Missense 2:100286991-100286991 - ME049T COSM229927 c.1442C>T p.P481L Substitution - Missense 2:100298870-100298870 - C0049T COSM4154463 c.1742C>A p.S581Y Substitution - Missense 2:100294244-100294244 - PTC-73C COSM4132906 c.330C>G p.D110E Substitution - Missense 2:100321764-100321764 - RK306_C01 COSM4944080 c.1149T>C p.D383D Substitution - coding silent 2:100299835-100299835 - TCGA-F5-6814-01 COSM3425038 c.1141G>A p.E381K Substitution - Missense 2:100299843-100299843 - T1154 COSM4698379 c.532C>T p.R178C Substitution - Missense 2:100321562-100321562 - TCGA-B0-4714-01 COSM3364180 c.1921G>A p.V641M Substitution - Missense 2:100287063-100287063 - TCGA-37-4141-01 COSM715007 c.1797G>C p.V599V Substitution - coding silent 2:100290381-100290381 - TCGA-D5-6931-01 COSM1398391 c.1310G>A p.S437N Substitution - Missense 2:100299277-100299277 - PTC-28C COSM4132907 c.228A>G p.E76E Substitution - coding silent 2:100321866-100321866 - EV003-R6 COSM4410682 c.1704C>G p.C568W Substitution - Missense 2:100294282-100294282 - 587342 COSM1213536 c.899C>A p.S300Y Substitution - Missense 2:100302943-100302943 - TCGA-D9-A6EC-06 COSM2979775 c.695C>T p.S232L Substitution - Missense 2:100309210-100309210 - TCGA-DI-A0WH-01 COSM1004445 c.2251G>T p.E751* Substitution - Nonsense 2:100284312-100284312 - TCGA-EE-A2MR-06 COSM3564263 c.859G>A p.E287K Substitution - Missense 2:100302983-100302983 - 2492702 COSM5715980 c.1788T>G p.I596M Substitution - Missense 2:100290390-100290390 - TCGA-AG-3892-01 COSM257301 c.1519G>T p.E507* Substitution - Nonsense 2:100295511-100295511 - LUAD-RT-S01709 COSM379922 c.921+1G>A p.? Unknown 2:100302920-100302920 - RMS10_ COSM4985827 c.391G>A p.A131T Substitution - Missense 2:100321703-100321703 - TCGA-AN-A046-01 COSM126776 c.1531C>T p.R511* Substitution - Nonsense 2:100295499-100295499 - T3724 COSM4698376 c.1880G>A p.G627D Substitution - Missense 2:100290298-100290298 - LUAD-B00416 COSM331240 c.1197A>G p.L399L Substitution - coding silent 2:100299787-100299787 - TCGA-EE-A2M6-06 COSM3564262 c.997A>C p.K333Q Substitution - Missense 2:100300712-100300712 - PT37 COSM5917661 c.712G>A p.A238T Substitution - Missense 2:100309193-100309193 - PTC-53C COSM4132905 c.351C>T p.N117N Substitution - coding silent 2:100321743-100321743 - CSCC-31-T COSM4470138 c.1642C>T p.P548S Substitution - Missense 2:100294344-100294344 - YURAY COSM5393938 c.1493A>G p.N498S Substitution - Missense 2:100295537-100295537 - MedB-1 COSM5621156 c.13C>T p.P5S Substitution - Missense 2:100322081-100322081 - ACINAR01 COSM1732700 c.713C>T p.A238V Substitution - Missense 2:100309192-100309192 - TCGA-AA-A010-01 COSM282462 c.1964C>A p.S655Y Substitution - Missense 2:100287020-100287020 - TCGA-D1-A167-01 COSM1004451 c.1212G>A p.P404P Substitution - coding silent 2:100299772-100299772 - EV003-R9 COSM4410682 c.1704C>G p.C568W Substitution - Missense 2:100294282-100294282 - HN_62854 COSM126776 c.1531C>T p.R511* Substitution - Nonsense 2:100295499-100295499 - BRC5 COSM2979739 c.1959C>T p.H653H Substitution - coding silent 2:100287025-100287025 - TCGA-EE-A29L-06 COSM3564261 c.1394G>A p.G465E Substitution - Missense 2:100298918-100298918 - TCGA-15-0742-01 COSM1326038 c.1141G>T p.E381* Substitution - Nonsense 2:100299843-100299843 - PTC-7C COSM4132904 c.1062G>A p.S354S Substitution - coding silent 2:100300647-100300647 - 2334192 COSM312556 c.1342G>T p.E448* Substitution - Nonsense 2:100299245-100299245 - TCGA-A5-A0G9-01 COSM1004449 c.1542G>A p.P514P Substitution - coding silent 2:100295488-100295488 - MDA-MB-468 COSM1669165 c.2082C>A p.S694R Substitution - Missense 2:100284481-100284481 - TCGA-ER-A19C-06 COSM3564257 c.1960G>A p.D654N Substitution - Missense 2:100287024-100287024 - TCGA-AA-3510-01 COSM1398389 c.1532G>A p.R511Q Substitution - Missense 2:100295498-100295498 - PTC-6C COSM4132907 c.228A>G p.E76E Substitution - coding silent 2:100321866-100321866 - CSCC-44-T COSM4534897 c.2133G>A p.K711K Substitution - coding silent 2:100284430-100284430 - CHC1717T COSM4801927 c.1830C>A p.D610E Substitution - Missense 2:100290348-100290348 - TCGA-BR-4191-01 COSM4083728 c.1833G>A p.A611A Substitution - coding silent 2:100290345-100290345 - B104-0 COSM1751953 c.751C>G p.L251V Substitution - Missense 2:100309154-100309154 - SNU-175 COSM2979734 c.2192G>A p.R731Q Substitution - Missense 2:100284371-100284371 - RK167_C01 COSM1631214 c.1321T>C p.S441P Substitution - Missense 2:100299266-100299266 - TCGA-51-4081-01 COSM715003 c.1386G>C p.T462T Substitution - coding silent 2:100298926-100298926 - YULAN COSM1690810 c.1627T>C p.C543R Substitution - Missense 2:100294359-100294359 - sysucc-783T COSM5484395 c.1730G>A p.G577D Substitution - Missense 2:100294256-100294256 - TCGA-IR-A3LK-01 COSM4816546 c.1303G>A p.E435K Substitution - Missense 2:100299284-100299284 - Mx32 COSM32650 c.1684C>T p.R562W Substitution - Missense 2:100294302-100294302 - YUKAT COSM5393939 c.1147G>A p.D383N Substitution - Missense 2:100299837-100299837 - CSCC-46-T COSM4513407 c.937C>T p.L313L Substitution - coding silent 2:100300772-100300772 - ESO-1481 COSM1256602 c.822T>C p.A274A Substitution - coding silent 2:100303020-100303020 - CSCC-11-T COSM4462719 c.1258C>T p.P420S Substitution - Missense 2:100299726-100299726 - SCC-15 COSM4132908 c.75G>C p.Q25H Substitution - Missense 2:100322019-100322019 - TCGA-DJ-A2Q9-01 COSM3372362 c.1954C>G p.L652V Substitution - Missense 2:100287030-100287030 - TCGA-AR-A0U0-01 COSM440892 c.1604C>A p.T535N Substitution - Missense 2:100294382-100294382 - T3091 COSM4698375 c.2128C>T p.R710C Substitution - Missense 2:100284435-100284435 - NCI-H23 COSM1669166 c.1673A>T p.E558V Substitution - Missense 2:100294313-100294313 - CSCC-40-T COSM4522135 c.1147G>C p.D383H Substitution - Missense 2:100299837-100299837 - TCGA-D1-A16Y-01 COSM1004452 c.1001C>T p.A334V Substitution - Missense 2:100300708-100300708 - 10-P1058 COSM4582536 c.1902A>G p.E634E Substitution - coding silent 2:100290276-100290276 - 2492703 COSM5715980 c.1788T>G p.I596M Substitution - Missense 2:100290390-100290390 - RK237_C01 COSM4779811 c.1371T>G p.F457L Substitution - Missense 2:100298941-100298941 - ESO-0115 COSM1256601 c.714G>A p.A238A Substitution - coding silent 2:100309191-100309191 - TCGA-EE-A2M8-06 COSM3564266 c.690T>A p.D230E Substitution - Missense 2:100309215-100309215 - TCGA-D3-A1Q6-06 COSM3564265 c.749C>T p.A250V Substitution - Missense 2:100309156-100309156 - S02256 COSM5681270 c.1359G>A p.M453I Substitution - Missense 2:100299228-100299228 - TCGA-B0-4845-01 COSM3364181 c.1835T>C p.I612T Substitution - Missense 2:100290343-100290343 - TCGA-DD-A1EC-01 COSM4938135 c.1830C>T p.D610D Substitution - coding silent 2:100290348-100290348 - PTC-28C COSM4132908 c.75G>C p.Q25H Substitution - Missense 2:100322019-100322019 - pfg038T COSM4759424 c.2174G>A p.R725Q Substitution - Missense 2:100284389-100284389 - TCGA-BR-6566-01 COSM4083730 c.1190C>T p.A397V Substitution - Missense 2:100299794-100299794 - PCSI_0090_Pa_P COSM3379135 c.1685G>T p.R562L Substitution - Missense 2:100294301-100294301 - TCGA-22-4591-01 COSM715005 c.1775G>A p.C592Y Substitution - Missense 2:100290403-100290403 - S00941 COSM5663722 c.201G>A p.A67A Substitution - coding silent 2:100321893-100321893 - J33_T COSM3960858 c.922-1G>A p.? Unknown 2:100300788-100300788 - C086 COSM126776 c.1531C>T p.R511* Substitution - Nonsense 2:100295499-100295499 - TCGA-EE-A3AG-06 COSM3564259 c.1853G>T p.R618L Substitution - Missense 2:100290325-100290325 - SCC-25 COSM4132908 c.75G>C p.Q25H Substitution - Missense 2:100322019-100322019 - PTC-73C COSM4132907 c.228A>G p.E76E Substitution - coding silent 2:100321866-100321866 - NCI-H23 COSM1669167 c.1672G>C p.E558Q Substitution - Missense 2:100294314-100294314 - CSCC-11-T COSM3564255 c.2005G>A p.D669N Substitution - Missense 2:100286979-100286979 - TCGA-K4-A3WU-01 COSM3364180 c.1921G>A p.V641M Substitution - Missense 2:100287063-100287063 - TCGA-EK-A2PL-01 COSM4838443 c.1795G>A p.V599M Substitution - Missense 2:100290383-100290383 - 2492701 COSM5715980 c.1788T>G p.I596M Substitution - Missense 2:100290390-100290390 - TCGA-BH-A0DK-01 COSM440891 c.2038G>T p.G680W Substitution - Missense 2:100286946-100286946 - I2L-P11-Tumor-Biopsy COSM5354054 c.162G>T p.A54A Substitution - coding silent 2:100321932-100321932 - HCC2998 COSM1669164 c.2168A>C p.K723T Substitution - Missense 2:100284395-100284395 - TCGA-EI-6917-01 COSM3425037 c.1155G>T p.K385N Substitution - Missense 2:100299829-100299829 - PT37 COSM5393939 c.1147G>A p.D383N Substitution - Missense 2:100299837-100299837 - TCGA-D1-A17R-01 COSM1004447 c.2212C>T p.R738C Substitution - Missense 2:100284351-100284351 - TCGA-GN-A26A-06 COSM3564264 c.814G>A p.A272T Substitution - Missense 2:100303028-100303028 - T351 COSM1004448 c.2064G>A p.E688E Substitution - coding silent 2:100286920-100286920 - TCGA-EJ-7123-01 COSM3673441 c.1236C>G p.D412E Substitution - Missense 2:100299748-100299748 - PDA_038 COSM5000028 c.2212C>G p.R738G Substitution - Missense 2:100284351-100284351 - B104-0-Tumor COSM1751953 c.751C>G p.L251V Substitution - Missense 2:100309154-100309154 - U2940 COSM5621157 c.12G>T p.E4D Substitution - Missense 2:100322082-100322082 - SA214 COSM212272 c.1867C>T p.R623C Substitution - Missense 2:100290311-100290311 - T3091 COSM4698377 c.1812T>C p.D604D Substitution - coding silent 2:100290366-100290366 - TCGA-CA-6718-01 COSM1398389 c.1532G>A p.R511Q Substitution - Missense 2:100295498-100295498 - TCGA-D3-A2JD-06 COSM3564258 c.1942G>A p.E648K Substitution - Missense 2:100287042-100287042 - TCGA-AA-A01K-01 COSM299957 c.1541C>T p.P514L Substitution - Missense 2:100295489-100295489 - ESO-752 COSM1256603 c.1763C>T p.S588L Substitution - Missense 2:100290415-100290415 - TCGA-BS-A0UV-01 COSM1004448 c.2064G>A p.E688E Substitution - coding silent 2:100286920-100286920 - YUQUEST COSM5393937 c.1647G>A p.T549T Substitution - coding silent 2:100294339-100294339 - RW2982 COSM4649647 c.765T>A p.S255R Substitution - Missense 2:100309140-100309140 - I2L-P24Ta-Tumor-Biopsy COSM5354488 c.670C>G p.L224V Substitution - Missense 2:100321424-100321424 - TCGA-IP-7968-01 COSM4083732 c.143C>T p.S48F Substitution - Missense 2:100321951-100321951 - TCGA-D8-A27G-01 COSM3836386 c.1563G>C p.K521N Substitution - Missense 2:100295467-100295467 - TCGA-AA-3821-01 COSM294526 c.2008C>T p.R670C Substitution - Missense 2:100286976-100286976 - PT48 COSM5930923 c.1621T>C p.F541L Substitution - Missense 2:100294365-100294365 - CHC1717T COSM4801927 c.1830C>A p.D610E Substitution - Missense 2:100290348-100290348 - TCGA-GC-A3WC-01 COSM3797785 c.1989G>C p.W663C Substitution - Missense 2:100286995-100286995 - BRC39 COSM5025677 c.2264G>C p.*755S Nonstop extension 2:100284299-100284299 - U2940 COSM5621156 c.13C>T p.P5S Substitution - Missense 2:100322081-100322081 - TCGA-GN-A266-06 COSM3564260 c.1579G>A p.E527K Substitution - Missense 2:100295451-100295451 - C086 COSM5533905 c.2193G>A p.R731R Substitution - coding silent 2:100284370-100284370 - MedB-1 COSM5621157 c.12G>T p.E4D Substitution - Missense 2:100322082-100322082 - TCGA-22-4595-01 COSM715006 c.1794C>T p.D598D Substitution - coding silent 2:100290384-100290384 - LS411 COSM2979760 c.1323G>A p.S441S Substitution - coding silent 2:100299264-100299264 - YUKAT COSM5000028 c.2212C>G p.R738G Substitution - Missense 2:100284351-100284351 - TCGA-33-4566-01 COSM715004 c.1729G>T p.G577C Substitution - Missense 2:100294257-100294257 - TCGA-AX-A064-01 COSM1004450 c.1438G>A p.A480T Substitution - Missense 2:100298874-100298874 - XHDG35 COSM569292 c.1268-3C>G p.? Unknown 2:100299322-100299322 - S0080 COSM5883224 c.1846C>T p.R616W Substitution - Missense 2:100290332-100290332 - 587376 COSM1213537 c.1066-1G>T p.? Unknown 2:100299919-100299919 - TCGA-C5-A1MH-01 COSM4820832 c.1353C>T p.L451L Substitution - coding silent 2:100299234-100299234 - 255 COSM3731711 c.1878T>C p.D626D Substitution - coding silent 2:100290300-100290300 - TCGA-FS-A1ZZ-06 COSM3564257 c.1960G>A p.D654N Substitution - Missense 2:100287024-100287024 - TCGA-AA-3695-01 COSM293397 c.1893G>A p.A631A Substitution - coding silent 2:100290285-100290285 - TCGA-FS-A1Z3-06 COSM3564255 c.2005G>A p.D669N Substitution - Missense 2:100286979-100286979 - PTC-1C COSM4132909 c.59C>G p.A20G Substitution - Missense 2:100322035-100322035 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.21375;Hs.21377;Hs.21380 2q11.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.I612T c.1835T>C 2 100906805 RCCC A G Synonymous p.A274A c.822T>C 2 100919482 ESCA A T Missense p.D230E c.690T>A 2 100925677 CM C A Missense p.G680W c.2038G>T 2 100903408 BRCA C A Missense p.R618L c.1853G>T 2 100906787 CM C A Nonsense p.E381* c.1141G>T 2 100916305 GBM C A Nonsense p.E448* c.1342G>T 2 100915707 SCLC C A Nonsense p.E751* c.2251G>T 2 100900774 UCEC C A Synonymous p.P174P c.522G>T 2 100938034 LUSC C G 3-UTRSNV . c.2262+2G>C 2 100900761 BRCA C G Missense p.G680R c.2038G>C 2 100903408 LUAD C G Missense p.S691T c.2072G>C 2 100900953 HNSC C G Synonymous p.T462T c.1386G>C 2 100915388 LUSC C G Synonymous p.V599V c.1797G>C 2 100906843 LUSC C T Missense p.A272T c.814G>A 2 100919490 CM C T Missense p.A480T c.1438G>A 2 100915336 UCEC C T Missense p.A712T c.2134G>A 2 100900891 CM C T Missense p.C298Y c.893G>A 2 100919411 HNSC C T Missense p.C592Y c.1775G>A 2 100906865 LUSC C T Missense p.D230N c.688G>A 2 100925679 CM C T Missense p.D654N c.1960G>A 2 100903486 CM C T Missense p.D669N c.2005G>A 2 100903441 CM C T Missense p.E287K c.859G>A 2 100919445 CM C T Missense p.E648K c.1942G>A 2 100903504 CM C T Missense p.G465E c.1394G>A 2 100915380 CM C T Missense p.V641M c.1921G>A 2 100903525 RCCC C T Synonymous p.A238A c.714G>A 2 100925653 ESCA C T Synonymous p.A611A c.1833G>A 2 100906807 STAD C T Synonymous p.A631A c.1893G>A 2 100906747 COREAD C T Synonymous p.K421K c.1263G>A 2 100916183 HNSC G A 3-UTRSNV . c.2262+9553C>T 2 100891210 HC G A IntronicSNV . c.1066-102C>T 2 100916482 CM G A Missense p.A250V c.749C>T 2 100925618 CM G A Missense p.A274V c.821C>T 2 100919483 CM G A Missense p.A334V c.1001C>T 2 100917170 UCEC G A Missense p.L667F c.1999C>T 2 100903447 CM G A Missense p.P481L c.1442C>T 2 100915332 CM G A Missense p.P514L c.1541C>T 2 100911951 COREAD G A Missense p.P687L c.2060C>T 2 100903386 CM G A Missense p.R562W c.1684C>T 2 100910764 CM G A Missense p.R623C c.1867C>T 2 100906773 BRCA G A Missense p.R738C c.2212C>T 2 100900813 UCEC G A Missense p.S588L c.1763C>T 2 100906877 ESCA G A Nonsense p.R511* c.1531C>T 2 100911961 HNSC G A Synonymous p.D406D c.1218C>T 2 100916228 STAD G A Synonymous p.D598D c.1794C>T 2 100906846 LUSC G A Synonymous p.H653H c.1959C>T 2 100903487 BRCA G C Missense p.A316G c.947C>G 2 100917224 STAD G C Missense p.L652V c.1954C>G 2 100903492 THCA - GG IntronicInsertion . c.1066-103_1066-102dupCC 2 100916482 CM G T Missense p.A495E c.1484C>A 2 100912008 STAD G T Missense p.T535N c.1604C>A 2 100910844 BRCA T C 3-UTRSNV . c.2262+4376A>G 2 100896387 HC T C Missense p.E458G c.1373A>G 2 100915401 SCLC T G 3-UTRSNV . c.2262+10962A>C 2 100889801 HC T G Missense p.K333Q c.997A>C 2 100917174 CM T G Missense p.T571P c.1711A>C 2 100910737 STAD