Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 5 180651181 180651182 + In_Frame_Ins INS - - GGA TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr5:180651181_180651182insGGA c.182_183insGGA c.(181-186)cgggag>cgGGAggag p.66_67insE BLCA 5 180659709 180659709 + Silent SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 g.chr5:180659709G>C c.960G>C c.(958-960)ctG>ctC p.L320L BLCA 5 180660709 180660709 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr5:180660709C>T c.1237C>T c.(1237-1239)Ctg>Ttg p.L413L BLCA 5 180661176 180661176 + Missense_Mutation SNP G G T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 g.chr5:180661176G>T c.1294G>T c.(1294-1296)Gac>Tac p.D432Y BLCA 5 180661254 180661254 + Missense_Mutation SNP C C T TCGA-UY-A78O-01A-12D-A339-08 TCGA-UY-A78O-10A-01D-A339-08 g.chr5:180661254C>T c.1372C>T c.(1372-1374)Cgg>Tgg p.R458W BLCA 5 180661493 180661493 + Silent SNP C C A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr5:180661493C>A c.1611C>A c.(1609-1611)ctC>ctA p.L537L BLCA 5 180661586 180661586 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 g.chr5:180661586G>A c.1704G>A c.(1702-1704)acG>acA p.T568T BLCA 5 180661677 180661677 + Missense_Mutation SNP G G A TCGA-BT-A20V-01A-11D-A14W-08 TCGA-BT-A20V-11A-11D-A14W-08 g.chr5:180661677G>A c.1795G>A c.(1795-1797)Gcc>Acc p.A599T BLCA 5 180661766 180661766 + Silent SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 g.chr5:180661766C>G c.1884C>G c.(1882-1884)ctC>ctG p.L628L BLCA 5 180661962 180661962 + 3'UTR SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 g.chr5:180661962C>T BRCA 5 180651352 180651352 + Missense_Mutation SNP A A G TCGA-BH-A0W7-01A-11D-A10Y-09 TCGA-BH-A0W7-10A-01D-A110-09 g.chr5:180651352A>G c.353A>G c.(352-354)gAc>gGc p.D118G BRCA 5 180651357 180651357 + Missense_Mutation SNP A A G TCGA-A1-A0SI-01A-11D-A142-09 TCGA-A1-A0SI-10B-01D-A142-09 g.chr5:180651357A>G c.358A>G c.(358-360)Atg>Gtg p.M120V BRCA 5 180657808 180657808 + Missense_Mutation SNP C C G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 g.chr5:180657808C>G c.878C>G c.(877-879)gCc>gGc p.A293G BRCA 5 180661694 180661694 + Silent SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr5:180661694C>T c.1812C>T c.(1810-1812)ttC>ttT p.F604F BRCA 5 180661772 180661772 + Silent SNP T T C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 g.chr5:180661772T>C c.1890T>C c.(1888-1890)ccT>ccC p.P630P CESC 5 180657818 180657818 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 g.chr5:180657818G>C c.888G>C c.(886-888)gaG>gaC p.E296D CESC 5 180660643 180660643 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr5:180660643G>A c.1171G>A c.(1171-1173)Gag>Aag p.E391K CESC 5 180661467 180661467 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 g.chr5:180661467C>T c.1585C>T c.(1585-1587)Cgc>Tgc p.R529C COAD 5 180651185 180651185 + Silent SNP G G A TCGA-F4-6855-01A-11D-1924-10 TCGA-F4-6855-10A-01D-1924-10 g.chr5:180651185G>A c.186G>A c.(184-186)gaG>gaA p.E62E COAD 5 180651682 180651682 + Missense_Mutation SNP C C A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr5:180651682C>A c.683C>A c.(682-684)cCc>cAc p.P228H COAD 5 180659719 180659719 + Missense_Mutation SNP C C G TCGA-AA-3979-01A-01W-0995-10 TCGA-AA-3979-10A-01W-0999-10 g.chr5:180659719C>G c.970C>G c.(970-972)Ctg>Gtg p.L324V COAD 5 180659868 180659868 + Frame_Shift_Del DEL G G - TCGA-AA-3872-01A-01W-0995-10 TCGA-AA-3872-10A-01W-0995-10 g.chr5:180659868delG c.1119delG c.(1117-1119)cagfs p.Q373fs COAD 5 180661381 180661381 + Missense_Mutation SNP T T C TCGA-DM-A1D0-01A-11D-A152-10 TCGA-DM-A1D0-10A-01D-A152-10 g.chr5:180661381T>C c.1499T>C c.(1498-1500)gTg>gCg p.V500A COAD 5 180661483 180661483 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr5:180661483G>A c.1601G>A c.(1600-1602)cGc>cAc p.R534H COAD 5 180661615 180661615 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr5:180661615G>A c.1733G>A c.(1732-1734)cGc>cAc p.R578H COAD 5 180661666 180661666 + Missense_Mutation SNP C C A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr5:180661666C>A c.1784C>A c.(1783-1785)gCa>gAa p.A595E COAD 5 180661970 180661970 + 3'UTR SNP T T G TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr5:180661970T>G COADREAD 5 180651185 180651185 + Silent SNP G G A TCGA-F4-6855-01A-11D-1924-10 TCGA-F4-6855-10A-01D-1924-10 g.chr5:180651185G>A c.186G>A c.(184-186)gaG>gaA p.E62E COADREAD 5 180651556 180651556 + Missense_Mutation SNP G G A TCGA-AG-3999-01A-01W-1073-09 TCGA-AG-3999-10A-01W-1073-09 g.chr5:180651556G>A c.557G>A c.(556-558)tGc>tAc p.C186Y COADREAD 5 180651682 180651682 + Missense_Mutation SNP C C A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr5:180651682C>A c.683C>A c.(682-684)cCc>cAc p.P228H COADREAD 5 180651714 180651714 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:180651714G>A c.715G>A c.(715-717)Gag>Aag p.E239K COADREAD 5 180659719 180659719 + Missense_Mutation SNP C C G TCGA-AA-3979-01A-01W-0995-10 TCGA-AA-3979-10A-01W-0999-10 g.chr5:180659719C>G c.970C>G c.(970-972)Ctg>Gtg p.L324V COADREAD 5 180659868 180659868 + Frame_Shift_Del DEL G G - TCGA-AA-3872-01A-01W-0995-10 TCGA-AA-3872-10A-01W-0995-10 g.chr5:180659868delG c.1119delG c.(1117-1119)cagfs p.Q373fs COADREAD 5 180661307 180661307 + Silent SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:180661307A>G c.1425A>G c.(1423-1425)gtA>gtG p.V475V COADREAD 5 180661381 180661381 + Missense_Mutation SNP T T C TCGA-DM-A1D0-01A-11D-A152-10 TCGA-DM-A1D0-10A-01D-A152-10 g.chr5:180661381T>C c.1499T>C c.(1498-1500)gTg>gCg p.V500A COADREAD 5 180661483 180661483 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr5:180661483G>A c.1601G>A c.(1600-1602)cGc>cAc p.R534H COADREAD 5 180661615 180661615 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr5:180661615G>A c.1733G>A c.(1732-1734)cGc>cAc p.R578H COADREAD 5 180661666 180661666 + Missense_Mutation SNP C C A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr5:180661666C>A c.1784C>A c.(1783-1785)gCa>gAa p.A595E COADREAD 5 180661970 180661970 + 3'UTR SNP T T G TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr5:180661970T>G DLBC 5 180661274 180661274 + Missense_Mutation SNP C C G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr5:180661274C>G c.1392C>G c.(1390-1392)gaC>gaG p.D464E DLBC 5 180661468 180661468 + Missense_Mutation SNP G G A TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr5:180661468G>A c.1586G>A c.(1585-1587)cGc>cAc p.R529H ESCA 5 180662356 180662356 + 3'UTR SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr5:180662356C>T GBM 5 180651777 180651777 + Missense_Mutation SNP G G A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 g.chr5:180651777G>A c.778G>A c.(778-780)Gtg>Atg p.V260M GBMLGG 5 180651273 180651273 + Missense_Mutation SNP G G A TCGA-DH-A66G-01A-21D-A31L-08 TCGA-DH-A66G-10A-01D-A31J-08 g.chr5:180651273G>A c.274G>A c.(274-276)Gag>Aag p.E92K GBMLGG 5 180651435 180651435 + Missense_Mutation SNP A A T TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 g.chr5:180651435A>T c.436A>T c.(436-438)Agg>Tgg p.R146W GBMLGG 5 180651777 180651777 + Missense_Mutation SNP G G A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 g.chr5:180651777G>A c.778G>A c.(778-780)Gtg>Atg p.V260M GBMLGG 5 180660724 180660724 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:180660724G>A c.1252G>A c.(1252-1254)Gtg>Atg p.V418M GBMLGG 5 180661549 180661549 + Missense_Mutation SNP G G A TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 g.chr5:180661549G>A c.1667G>A c.(1666-1668)gGc>gAc p.G556D KIPAN 5 180651530 180651530 + Silent SNP T T A TCGA-B0-5077-01A-01D-1462-08 TCGA-B0-5077-11A-01D-1462-08 g.chr5:180651530T>A c.531T>A c.(529-531)ccT>ccA p.P177P KIPAN 5 180651556 180651556 + Missense_Mutation SNP G G C TCGA-B8-4620-01A-02D-1386-10 TCGA-B8-4620-10A-01D-1251-10 g.chr5:180651556G>C c.557G>C c.(556-558)tGc>tCc p.C186S KIPAN 5 180661231 180661232 + Frame_Shift_Ins INS - - C TCGA-BQ-5876-01A-11D-1589-08 TCGA-BQ-5876-11A-01D-1589-08 g.chr5:180661231_180661232insC c.1349_1350insC c.(1348-1353)cgccggfs p.R451fs KIRC 5 180651530 180651530 + Silent SNP T T A TCGA-B0-5077-01A-01D-1462-08 TCGA-B0-5077-11A-01D-1462-08 g.chr5:180651530T>A c.531T>A c.(529-531)ccT>ccA p.P177P KIRC 5 180651556 180651556 + Missense_Mutation SNP G G C TCGA-B8-4620-01A-02D-1386-10 TCGA-B8-4620-10A-01D-1251-10 g.chr5:180651556G>C c.557G>C c.(556-558)tGc>tCc p.C186S KIRP 5 180661231 180661232 + Frame_Shift_Ins INS - - C TCGA-BQ-5876-01A-11D-1589-08 TCGA-BQ-5876-11A-01D-1589-08 g.chr5:180661231_180661232insC c.1349_1350insC c.(1348-1353)cgccggfs p.R451fs LGG 5 180651273 180651273 + Missense_Mutation SNP G G A TCGA-DH-A66G-01A-21D-A31L-08 TCGA-DH-A66G-10A-01D-A31J-08 g.chr5:180651273G>A c.274G>A c.(274-276)Gag>Aag p.E92K LGG 5 180651435 180651435 + Missense_Mutation SNP A A T TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 g.chr5:180651435A>T c.436A>T c.(436-438)Agg>Tgg p.R146W LGG 5 180660724 180660724 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:180660724G>A c.1252G>A c.(1252-1254)Gtg>Atg p.V418M LGG 5 180661549 180661549 + Missense_Mutation SNP G G A TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 g.chr5:180661549G>A c.1667G>A c.(1666-1668)gGc>gAc p.G556D LIHC 5 180651055 180651055 + Missense_Mutation SNP T T C TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr5:180651055T>C c.56T>C c.(55-57)gTg>gCg p.V19A LIHC 5 180651508 180651508 + Missense_Mutation SNP C C T TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr5:180651508C>T c.509C>T c.(508-510)cCa>cTa p.P170L LIHC 5 180661549 180661549 + Missense_Mutation SNP G G A TCGA-DD-A73C-01A-12D-A33K-10 TCGA-DD-A73C-10A-01D-A33K-10 g.chr5:180661549G>A c.1667G>A c.(1666-1668)gGc>gAc p.G556D LIHC 5 180661725 180661725 + Missense_Mutation SNP C C A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr5:180661725C>A c.1843C>A c.(1843-1845)Cct>Act p.P615T LIHC 5 180662368 180662368 + 3'UTR SNP A A G TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr5:180662368A>G LUAD 5 180651713 180651713 + Silent SNP C C T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 g.chr5:180651713C>T c.714C>T c.(712-714)tgC>tgT p.C238C LUAD 5 180651801 180651801 + Nonsense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 g.chr5:180651801C>T c.802C>T c.(802-804)Cag>Tag p.Q268* LUAD 5 180659677 180659677 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 g.chr5:180659677C>T c.928C>T c.(928-930)Ctg>Ttg p.L310L LUAD 5 180660418 180660418 + Silent SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 g.chr5:180660418C>T c.1146C>T c.(1144-1146)atC>atT p.I382I LUAD 5 180661251 180661251 + Missense_Mutation SNP G G C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 g.chr5:180661251G>C c.1369G>C c.(1369-1371)Gag>Cag p.E457Q LUAD 5 180661721 180661721 + Silent SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr5:180661721C>G c.1839C>G c.(1837-1839)gtC>gtG p.V613V LUSC 5 180660676 180660676 + Missense_Mutation SNP C C T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 g.chr5:180660676C>T c.1204C>T c.(1204-1206)Cct>Tct p.P402S PAAD 5 180651776 180651776 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:180651776C>T c.777C>T c.(775-777)agC>agT p.S259S PAAD 5 180661696 180661696 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:180661696C>T c.1814C>T c.(1813-1815)tCg>tTg p.S605L READ 5 180651556 180651556 + Missense_Mutation SNP G G A TCGA-AG-3999-01A-01W-1073-09 TCGA-AG-3999-10A-01W-1073-09 g.chr5:180651556G>A c.557G>A c.(556-558)tGc>tAc p.C186Y READ 5 180651714 180651714 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:180651714G>A c.715G>A c.(715-717)Gag>Aag p.E239K READ 5 180661307 180661307 + Silent SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:180661307A>G c.1425A>G c.(1423-1425)gtA>gtG p.V475V SKCM 5 180659705 180659705 + Missense_Mutation SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr5:180659705G>A c.956G>A c.(955-957)cGa>cAa p.R319Q SKCM 5 180661489 180661489 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr5:180661489G>A c.1607G>A c.(1606-1608)cGg>cAg p.R536Q SKCM 5 180661628 180661629 + Silent DNP CC CC TT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr5:180661628_180661629CC>TT c.1746_1747CC>TT c.(1744-1749)taCCtg>taTTtg p.582_583YL>YL

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 5 180660711 180660711 single base substitution G A 3_prime_UTR_variant BLCA-CN 5 180660711 180660711 single base substitution G A downstream_gene_variant BLCA-CN 5 180660711 180660711 single base substitution G A exon_variant BLCA-CN 5 180660711 180660711 single base substitution G A synonymous_variant L123L 369G>A BLCA-CN 5 180660711 180660711 single base substitution G A synonymous_variant L413L 1239G>A BLCA-US 5 180660709 180660709 single base substitution C T 3_prime_UTR_variant BLCA-US 5 180660709 180660709 single base substitution C T downstream_gene_variant BLCA-US 5 180660709 180660709 single base substitution C T exon_variant BLCA-US 5 180660709 180660709 single base substitution C T synonymous_variant L123L 367C>T BLCA-US 5 180660709 180660709 single base substitution C T synonymous_variant L413L 1237C>T BLCA-US 5 180661586 180661586 single base substitution G A downstream_gene_variant BLCA-US 5 180661586 180661586 single base substitution G A exon_variant BLCA-US 5 180661586 180661586 single base substitution G A intron_variant BLCA-US 5 180661586 180661586 single base substitution G A synonymous_variant T568T 1704G>A BRCA-EU 5 180644566 180644566 single base substitution G A upstream_gene_variant BRCA-EU 5 180644654 180644654 single base substitution G T upstream_gene_variant BRCA-EU 5 180645017 180645017 single base substitution T G upstream_gene_variant BRCA-EU 5 180645312 180645312 single base substitution G A upstream_gene_variant BRCA-EU 5 180645333 180645333 single base substitution C G upstream_gene_variant BRCA-EU 5 180645368 180645368 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 180645757 180645757 single base substitution C A upstream_gene_variant BRCA-EU 5 180646311 180646311 single base substitution T G upstream_gene_variant BRCA-EU 5 180646465 180646465 single base substitution C T upstream_gene_variant BRCA-EU 5 180646720 180646720 single base substitution C G upstream_gene_variant BRCA-EU 5 180646931 180646931 single base substitution G A upstream_gene_variant BRCA-EU 5 180647668 180647668 single base substitution G A upstream_gene_variant BRCA-EU 5 180648244 180648244 single base substitution C T upstream_gene_variant BRCA-EU 5 180649148 180649148 single base substitution C A upstream_gene_variant BRCA-EU 5 180649307 180649307 single base substitution C G upstream_gene_variant BRCA-EU 5 180649479 180649479 single base substitution C T upstream_gene_variant BRCA-EU 5 180649708 180649708 single base substitution T C 5_prime_UTR_variant BRCA-EU 5 180649708 180649708 single base substitution T C upstream_gene_variant BRCA-EU 5 180649957 180649957 single base substitution T G intron_variant BRCA-EU 5 180649957 180649957 single base substitution T G upstream_gene_variant BRCA-EU 5 180650094 180650094 single base substitution C G intron_variant BRCA-EU 5 180650094 180650094 single base substitution C G upstream_gene_variant BRCA-EU 5 180651531 180651531 single base substitution C T exon_variant BRCA-EU 5 180651531 180651531 single base substitution C T intron_variant BRCA-EU 5 180651531 180651531 single base substitution C T missense_variant R178W 532C>T BRCA-EU 5 180651531 180651531 single base substitution C T upstream_gene_variant BRCA-EU 5 180651846 180651846 single base substitution G T exon_variant BRCA-EU 5 180651846 180651846 single base substitution G T intron_variant BRCA-EU 5 180653871 180653871 single base substitution T C exon_variant BRCA-EU 5 180653871 180653871 single base substitution T C intron_variant BRCA-EU 5 180654717 180654717 deletion of <=200bp A - exon_variant BRCA-EU 5 180654717 180654717 deletion of <=200bp A - intron_variant BRCA-EU 5 180656442 180656442 single base substitution G C exon_variant BRCA-EU 5 180656442 180656442 single base substitution G C intron_variant BRCA-EU 5 180656442 180656442 single base substitution G C upstream_gene_variant BRCA-EU 5 180656907 180656907 deletion of <=200bp G - exon_variant BRCA-EU 5 180656907 180656907 deletion of <=200bp G - intron_variant BRCA-EU 5 180656907 180656907 deletion of <=200bp G - upstream_gene_variant BRCA-EU 5 180657607 180657607 single base substitution A G exon_variant BRCA-EU 5 180657607 180657607 single base substitution A G intron_variant BRCA-EU 5 180657607 180657607 single base substitution A G upstream_gene_variant BRCA-EU 5 180658792 180658792 single base substitution G A exon_variant BRCA-EU 5 180658792 180658792 single base substitution G A intron_variant BRCA-EU 5 180658792 180658792 single base substitution G A upstream_gene_variant BRCA-EU 5 180659878 180659878 single base substitution C T exon_variant BRCA-EU 5 180659878 180659878 single base substitution C T missense_variant R377W 1129C>T BRCA-EU 5 180659878 180659878 single base substitution C T missense_variant R87W 259C>T BRCA-EU 5 180659878 180659878 single base substitution C T upstream_gene_variant BRCA-EU 5 180660154 180660154 single base substitution C T exon_variant BRCA-EU 5 180660154 180660154 single base substitution C T intron_variant BRCA-EU 5 180660154 180660154 single base substitution C T upstream_gene_variant BRCA-EU 5 180660342 180660342 single base substitution C T exon_variant BRCA-EU 5 180660342 180660342 single base substitution C T intron_variant BRCA-EU 5 180660342 180660342 single base substitution C T upstream_gene_variant BRCA-EU 5 180662602 180662602 single base substitution T G 3_prime_UTR_variant BRCA-EU 5 180662602 180662602 single base substitution T G downstream_gene_variant BRCA-EU 5 180662602 180662602 single base substitution T G exon_variant BRCA-EU 5 180663326 180663326 single base substitution G C downstream_gene_variant BRCA-EU 5 180664744 180664744 insertion of <=200bp - T downstream_gene_variant BRCA-FR 5 180644654 180644654 single base substitution G T upstream_gene_variant BRCA-FR 5 180645017 180645017 single base substitution T G upstream_gene_variant BRCA-FR 5 180645312 180645312 single base substitution G A upstream_gene_variant BRCA-FR 5 180647668 180647668 single base substitution G A upstream_gene_variant BRCA-FR 5 180649479 180649479 single base substitution C T upstream_gene_variant BRCA-FR 5 180649708 180649708 single base substitution T C 5_prime_UTR_variant BRCA-FR 5 180649708 180649708 single base substitution T C upstream_gene_variant BRCA-FR 5 180650094 180650094 single base substitution C G intron_variant BRCA-FR 5 180650094 180650094 single base substitution C G upstream_gene_variant BRCA-FR 5 180652414 180652414 single base substitution G C exon_variant BRCA-FR 5 180652414 180652414 single base substitution G C intron_variant BRCA-FR 5 180658513 180658513 single base substitution G A exon_variant BRCA-FR 5 180658513 180658513 single base substitution G A intron_variant BRCA-FR 5 180658513 180658513 single base substitution G A upstream_gene_variant BRCA-FR 5 180661232 180661232 single base substitution C G 3_prime_UTR_variant BRCA-FR 5 180661232 180661232 single base substitution C G downstream_gene_variant BRCA-FR 5 180661232 180661232 single base substitution C G exon_variant BRCA-FR 5 180661232 180661232 single base substitution C G synonymous_variant R160R 480C>G BRCA-FR 5 180661232 180661232 single base substitution C G synonymous_variant R450R 1350C>G BRCA-FR 5 180663326 180663326 single base substitution G C downstream_gene_variant BRCA-FR 5 180665473 180665473 single base substitution C G downstream_gene_variant BRCA-KR 5 180664217 180664217 single base substitution C G downstream_gene_variant BRCA-UK 5 180651723 180651723 single base substitution G T exon_variant BRCA-UK 5 180651723 180651723 single base substitution G T intron_variant BRCA-UK 5 180651723 180651723 single base substitution G T stop_gained E242* 724G>T BRCA-UK 5 180663763 180663763 single base substitution C T downstream_gene_variant BRCA-US 5 180651352 180651352 single base substitution A G exon_variant BRCA-US 5 180651352 180651352 single base substitution A G intron_variant BRCA-US 5 180651352 180651352 single base substitution A G missense_variant D118G 353A>G BRCA-US 5 180651352 180651352 single base substitution A G upstream_gene_variant BRCA-US 5 180651357 180651357 single base substitution A G exon_variant BRCA-US 5 180651357 180651357 single base substitution A G intron_variant BRCA-US 5 180651357 180651357 single base substitution A G missense_variant M120V 358A>G BRCA-US 5 180651357 180651357 single base substitution A G upstream_gene_variant BRCA-US 5 180657808 180657808 single base substitution C G exon_variant BRCA-US 5 180657808 180657808 single base substitution C G missense_variant A293G 878C>G BRCA-US 5 180657808 180657808 single base substitution C G missense_variant A3G 8C>G BRCA-US 5 180657808 180657808 single base substitution C G upstream_gene_variant BRCA-US 5 180661694 180661694 single base substitution C T downstream_gene_variant BRCA-US 5 180661694 180661694 single base substitution C T exon_variant BRCA-US 5 180661694 180661694 single base substitution C T intron_variant BRCA-US 5 180661694 180661694 single base substitution C T synonymous_variant F604F 1812C>T BRCA-US 5 180661772 180661772 single base substitution T C downstream_gene_variant BRCA-US 5 180661772 180661772 single base substitution T C exon_variant BRCA-US 5 180661772 180661772 single base substitution T C intron_variant BRCA-US 5 180661772 180661772 single base substitution T C synonymous_variant P630P 1890T>C BRCA-US 5 180664279 180664279 single base substitution C G downstream_gene_variant BRCA-US 5 180665141 180665141 single base substitution G C downstream_gene_variant BRCA-US 5 180666577 180666577 single base substitution C T downstream_gene_variant BTCA-JP 5 180651403 180651403 single base substitution A G exon_variant BTCA-JP 5 180651403 180651403 single base substitution A G intron_variant BTCA-JP 5 180651403 180651403 single base substitution A G missense_variant Y135C 404A>G BTCA-JP 5 180651403 180651403 single base substitution A G upstream_gene_variant BTCA-JP 5 180660619 180660619 single base substitution C T downstream_gene_variant BTCA-JP 5 180660619 180660619 single base substitution C T exon_variant BTCA-JP 5 180660619 180660619 single base substitution C T intron_variant BTCA-JP 5 180660619 180660619 single base substitution C T upstream_gene_variant BTCA-JP 5 180663995 180663995 single base substitution C T downstream_gene_variant BTCA-JP 5 180665944 180665944 single base substitution A T downstream_gene_variant BTCA-JP 5 180666276 180666276 single base substitution A G downstream_gene_variant BTCA-JP 5 180666375 180666376 deletion of <=200bp AG - downstream_gene_variant CESC-US 5 180657818 180657818 single base substitution G C exon_variant CESC-US 5 180657818 180657818 single base substitution G C missense_variant E296D 888G>C CESC-US 5 180657818 180657818 single base substitution G C missense_variant E6D 18G>C CESC-US 5 180657818 180657818 single base substitution G C upstream_gene_variant CESC-US 5 180660643 180660643 single base substitution G A 3_prime_UTR_variant CESC-US 5 180660643 180660643 single base substitution G A downstream_gene_variant CESC-US 5 180660643 180660643 single base substitution G A exon_variant CESC-US 5 180660643 180660643 single base substitution G A missense_variant E101K 301G>A CESC-US 5 180660643 180660643 single base substitution G A missense_variant E391K 1171G>A CESC-US 5 180660643 180660643 single base substitution G A upstream_gene_variant CESC-US 5 180661467 180661467 single base substitution C T downstream_gene_variant CESC-US 5 180661467 180661467 single base substitution C T exon_variant CESC-US 5 180661467 180661467 single base substitution C T intron_variant CESC-US 5 180661467 180661467 single base substitution C T missense_variant R529C 1585C>T CLLE-ES 5 180659043 180659043 single base substitution C A exon_variant CLLE-ES 5 180659043 180659043 single base substitution C A intron_variant CLLE-ES 5 180659043 180659043 single base substitution C A upstream_gene_variant COAD-US 5 180651185 180651185 single base substitution G A exon_variant COAD-US 5 180651185 180651185 single base substitution G A intron_variant COAD-US 5 180651185 180651185 single base substitution G A synonymous_variant E62E 186G>A COAD-US 5 180651185 180651185 single base substitution G A upstream_gene_variant COAD-US 5 180659667 180659667 single base substitution G T exon_variant COAD-US 5 180659667 180659667 single base substitution G T missense_variant M16I 48G>T COAD-US 5 180659667 180659667 single base substitution G T missense_variant M306I 918G>T COAD-US 5 180659667 180659667 single base substitution G T upstream_gene_variant COAD-US 5 180661256 180661256 single base substitution G C 3_prime_UTR_variant COAD-US 5 180661256 180661256 single base substitution G C downstream_gene_variant COAD-US 5 180661256 180661256 single base substitution G C exon_variant COAD-US 5 180661256 180661256 single base substitution G C synonymous_variant R168R 504G>C COAD-US 5 180661256 180661256 single base substitution G C synonymous_variant R458R 1374G>C COAD-US 5 180661615 180661615 single base substitution G A downstream_gene_variant COAD-US 5 180661615 180661615 single base substitution G A exon_variant COAD-US 5 180661615 180661615 single base substitution G A intron_variant COAD-US 5 180661615 180661615 single base substitution G A missense_variant R578H 1733G>A COAD-US 5 180661666 180661666 single base substitution C A downstream_gene_variant COAD-US 5 180661666 180661666 single base substitution C A exon_variant COAD-US 5 180661666 180661666 single base substitution C A intron_variant COAD-US 5 180661666 180661666 single base substitution C A missense_variant A595E 1784C>A COAD-US 5 180666517 180666517 single base substitution G A downstream_gene_variant COCA-CN 5 180646227 180646227 single base substitution A T upstream_gene_variant COCA-CN 5 180657880 180657880 single base substitution C T exon_variant COCA-CN 5 180657880 180657880 single base substitution C T intron_variant COCA-CN 5 180657880 180657880 single base substitution C T upstream_gene_variant COCA-CN 5 180661615 180661615 single base substitution G A downstream_gene_variant COCA-CN 5 180661615 180661615 single base substitution G A exon_variant COCA-CN 5 180661615 180661615 single base substitution G A intron_variant COCA-CN 5 180661615 180661615 single base substitution G A missense_variant R578H 1733G>A COCA-CN 5 180661667 180661668 deletion of <=200bp AG - downstream_gene_variant COCA-CN 5 180661667 180661668 deletion of <=200bp AG - exon_variant COCA-CN 5 180661667 180661668 deletion of <=200bp AG - frameshift_variant AE595 COCA-CN 5 180661667 180661668 deletion of <=200bp AG - intron_variant COCA-CN 5 180661859 180661859 single base substitution G A 3_prime_UTR_variant COCA-CN 5 180661859 180661859 single base substitution G A downstream_gene_variant COCA-CN 5 180661859 180661859 single base substitution G A exon_variant COCA-CN 5 180661859 180661859 single base substitution G A intron_variant COCA-CN 5 180664214 180664214 single base substitution G T downstream_gene_variant COCA-CN 5 180665065 180665065 single base substitution G C downstream_gene_variant COCA-CN 5 180666025 180666025 single base substitution C T downstream_gene_variant ESAD-UK 5 180645780 180645780 single base substitution C T upstream_gene_variant ESAD-UK 5 180646642 180646642 single base substitution C T upstream_gene_variant ESAD-UK 5 180647811 180647811 single base substitution C T upstream_gene_variant ESAD-UK 5 180648688 180648688 single base substitution G T upstream_gene_variant ESAD-UK 5 180659088 180659088 single base substitution G A exon_variant ESAD-UK 5 180659088 180659088 single base substitution G A intron_variant ESAD-UK 5 180659088 180659088 single base substitution G A upstream_gene_variant ESAD-UK 5 180660677 180660677 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 180660677 180660677 single base substitution C T downstream_gene_variant ESAD-UK 5 180660677 180660677 single base substitution C T exon_variant ESAD-UK 5 180660677 180660677 single base substitution C T missense_variant P112L 335C>T ESAD-UK 5 180660677 180660677 single base substitution C T missense_variant P402L 1205C>T ESAD-UK 5 180660677 180660677 single base substitution C T upstream_gene_variant ESAD-UK 5 180662008 180662008 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 180662008 180662008 single base substitution C T downstream_gene_variant ESAD-UK 5 180662008 180662008 single base substitution C T exon_variant ESAD-UK 5 180662008 180662008 single base substitution C T intron_variant ESAD-UK 5 180662599 180662600 deletion of <=200bp CC - 3_prime_UTR_variant ESAD-UK 5 180662599 180662600 deletion of <=200bp CC - downstream_gene_variant ESAD-UK 5 180662599 180662600 deletion of <=200bp CC - exon_variant ESAD-UK 5 180662602 180662614 deletion of <=200bp TTCACTCCATTTG - 3_prime_UTR_variant ESAD-UK 5 180662602 180662614 deletion of <=200bp TTCACTCCATTTG - downstream_gene_variant ESAD-UK 5 180662602 180662614 deletion of <=200bp TTCACTCCATTTG - exon_variant ESAD-UK 5 180664975 180664975 single base substitution T C downstream_gene_variant ESAD-UK 5 180665250 180665250 single base substitution G T downstream_gene_variant GBM-US 5 180651777 180651777 single base substitution G A exon_variant GBM-US 5 180651777 180651777 single base substitution G A intron_variant GBM-US 5 180651777 180651777 single base substitution G A missense_variant V260M 778G>A KIRC-US 5 180651530 180651530 single base substitution T A exon_variant KIRC-US 5 180651530 180651530 single base substitution T A intron_variant KIRC-US 5 180651530 180651530 single base substitution T A synonymous_variant P177P 531T>A KIRC-US 5 180651530 180651530 single base substitution T A upstream_gene_variant KIRC-US 5 180651556 180651556 single base substitution G C exon_variant KIRC-US 5 180651556 180651556 single base substitution G C intron_variant KIRC-US 5 180651556 180651556 single base substitution G C missense_variant C186S 557G>C KIRC-US 5 180651556 180651556 single base substitution G C upstream_gene_variant KIRP-US 5 180661231 180661231 insertion of <=200bp - C 3_prime_UTR_variant KIRP-US 5 180661231 180661231 insertion of <=200bp - C downstream_gene_variant KIRP-US 5 180661231 180661231 insertion of <=200bp - C exon_variant KIRP-US 5 180661231 180661231 insertion of <=200bp - C frameshift_variant R160P? KIRP-US 5 180661231 180661231 insertion of <=200bp - C frameshift_variant R450P? LAML-KR 5 180651243 180651243 single base substitution T G exon_variant LAML-KR 5 180651243 180651243 single base substitution T G intron_variant LAML-KR 5 180651243 180651243 single base substitution T G missense_variant W82G 244T>G LAML-KR 5 180651243 180651243 single base substitution T G upstream_gene_variant LAML-KR 5 180665065 180665065 single base substitution G C downstream_gene_variant LGG-US 5 180651435 180651435 single base substitution A T exon_variant LGG-US 5 180651435 180651435 single base substitution A T intron_variant LGG-US 5 180651435 180651435 single base substitution A T missense_variant R146W 436A>T LGG-US 5 180651435 180651435 single base substitution A T upstream_gene_variant LICA-CN 5 180661681 180661681 single base substitution A G downstream_gene_variant LICA-CN 5 180661681 180661681 single base substitution A G exon_variant LICA-CN 5 180661681 180661681 single base substitution A G intron_variant LICA-CN 5 180661681 180661681 single base substitution A G missense_variant H600R 1799A>G LICA-CN 5 180664671 180664671 single base substitution T C downstream_gene_variant LICA-CN 5 180666542 180666542 single base substitution G A downstream_gene_variant LIHC-US 5 180651721 180651721 single base substitution A G exon_variant LIHC-US 5 180651721 180651721 single base substitution A G intron_variant LIHC-US 5 180651721 180651721 single base substitution A G missense_variant D241G 722A>G LIHC-US 5 180661549 180661549 single base substitution G A downstream_gene_variant LIHC-US 5 180661549 180661549 single base substitution G A exon_variant LIHC-US 5 180661549 180661549 single base substitution G A intron_variant LIHC-US 5 180661549 180661549 single base substitution G A missense_variant G556D 1667G>A LIHC-US 5 180661725 180661725 single base substitution C A downstream_gene_variant LIHC-US 5 180661725 180661725 single base substitution C A exon_variant LIHC-US 5 180661725 180661725 single base substitution C A intron_variant LIHC-US 5 180661725 180661725 single base substitution C A missense_variant P615T 1843C>A LIHC-US 5 180662368 180662368 single base substitution A G 3_prime_UTR_variant LIHC-US 5 180662368 180662368 single base substitution A G downstream_gene_variant LIHC-US 5 180662368 180662368 single base substitution A G exon_variant LIHC-US 5 180662368 180662368 single base substitution A G missense_variant S516G 1546A>G LIHC-US 5 180666567 180666567 single base substitution C G downstream_gene_variant LINC-JP 5 180657824 180657824 single base substitution A G exon_variant LINC-JP 5 180657824 180657824 single base substitution A G synonymous_variant R298R 894A>G LINC-JP 5 180657824 180657824 single base substitution A G synonymous_variant R8R 24A>G LINC-JP 5 180657824 180657824 single base substitution A G upstream_gene_variant LINC-JP 5 180660551 180660551 single base substitution G T downstream_gene_variant LINC-JP 5 180660551 180660551 single base substitution G T exon_variant LINC-JP 5 180660551 180660551 single base substitution G T intron_variant LINC-JP 5 180660551 180660551 single base substitution G T upstream_gene_variant LINC-JP 5 180661473 180661473 single base substitution C T downstream_gene_variant LINC-JP 5 180661473 180661473 single base substitution C T exon_variant LINC-JP 5 180661473 180661473 single base substitution C T intron_variant LINC-JP 5 180661473 180661473 single base substitution C T missense_variant H531Y 1591C>T LINC-JP 5 180662103 180662103 single base substitution A G 3_prime_UTR_variant LINC-JP 5 180662103 180662103 single base substitution A G downstream_gene_variant LINC-JP 5 180662103 180662103 single base substitution A G exon_variant LINC-JP 5 180662103 180662103 single base substitution A G intron_variant LIRI-JP 5 180648807 180648807 single base substitution T C upstream_gene_variant LIRI-JP 5 180650864 180650865 deletion of <=200bp TC - 5_prime_UTR_variant LIRI-JP 5 180650864 180650865 deletion of <=200bp TC - exon_variant LIRI-JP 5 180650864 180650865 deletion of <=200bp TC - intron_variant LIRI-JP 5 180650864 180650865 deletion of <=200bp TC - upstream_gene_variant LIRI-JP 5 180653008 180653008 single base substitution G A exon_variant LIRI-JP 5 180653008 180653008 single base substitution G A intron_variant LIRI-JP 5 180660827 180660827 single base substitution G A downstream_gene_variant LIRI-JP 5 180660827 180660827 single base substitution G A exon_variant LIRI-JP 5 180660827 180660827 single base substitution G A intron_variant LIRI-JP 5 180661607 180661607 single base substitution A G downstream_gene_variant LIRI-JP 5 180661607 180661607 single base substitution A G exon_variant LIRI-JP 5 180661607 180661607 single base substitution A G intron_variant LIRI-JP 5 180661607 180661607 single base substitution A G synonymous_variant K575K 1725A>G LIRI-JP 5 180662601 180662601 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 180662601 180662601 single base substitution T C downstream_gene_variant LIRI-JP 5 180662601 180662601 single base substitution T C exon_variant LIRI-JP 5 180662676 180662676 single base substitution A T 3_prime_UTR_variant LIRI-JP 5 180662676 180662676 single base substitution A T downstream_gene_variant LIRI-JP 5 180662676 180662676 single base substitution A T exon_variant LIRI-JP 5 180663351 180663351 single base substitution T C downstream_gene_variant LIRI-JP 5 180663555 180663557 deletion of <=200bp GAG - downstream_gene_variant LIRI-JP 5 180663908 180663908 single base substitution T C downstream_gene_variant LIRI-JP 5 180665404 180665404 single base substitution T C downstream_gene_variant LIRI-JP 5 180666763 180666763 single base substitution A C downstream_gene_variant LUSC-KR 5 180647142 180647142 single base substitution A T upstream_gene_variant LUSC-KR 5 180648060 180648060 single base substitution G T upstream_gene_variant LUSC-KR 5 180652265 180652265 single base substitution C G exon_variant LUSC-KR 5 180652265 180652265 single base substitution C G intron_variant LUSC-KR 5 180655150 180655150 single base substitution G T exon_variant LUSC-KR 5 180655150 180655150 single base substitution G T intron_variant LUSC-KR 5 180658786 180658786 single base substitution T C exon_variant LUSC-KR 5 180658786 180658786 single base substitution T C intron_variant LUSC-KR 5 180658786 180658786 single base substitution T C upstream_gene_variant LUSC-KR 5 180661824 180661824 single base substitution T G 3_prime_UTR_variant LUSC-KR 5 180661824 180661824 single base substitution T G downstream_gene_variant LUSC-KR 5 180661824 180661824 single base substitution T G exon_variant LUSC-KR 5 180661824 180661824 single base substitution T G intron_variant LUSC-KR 5 180662949 180662949 single base substitution C T downstream_gene_variant LUSC-KR 5 180663012 180663012 single base substitution C G downstream_gene_variant LUSC-US 5 180660676 180660676 single base substitution C T 3_prime_UTR_variant LUSC-US 5 180660676 180660676 single base substitution C T downstream_gene_variant LUSC-US 5 180660676 180660676 single base substitution C T exon_variant LUSC-US 5 180660676 180660676 single base substitution C T missense_variant P112S 334C>T LUSC-US 5 180660676 180660676 single base substitution C T missense_variant P402S 1204C>T LUSC-US 5 180660676 180660676 single base substitution C T upstream_gene_variant MALY-DE 5 180647982 180647982 single base substitution A G upstream_gene_variant MALY-DE 5 180657607 180657607 single base substitution A G exon_variant MALY-DE 5 180657607 180657607 single base substitution A G intron_variant MALY-DE 5 180657607 180657607 single base substitution A G upstream_gene_variant MALY-DE 5 180660053 180660053 single base substitution T C exon_variant MALY-DE 5 180660053 180660053 single base substitution T C intron_variant MALY-DE 5 180660053 180660053 single base substitution T C upstream_gene_variant MALY-DE 5 180662206 180662206 single base substitution T C 3_prime_UTR_variant MALY-DE 5 180662206 180662206 single base substitution T C downstream_gene_variant MALY-DE 5 180662206 180662206 single base substitution T C exon_variant MALY-DE 5 180662206 180662206 single base substitution T C intron_variant MALY-DE 5 180662731 180662731 single base substitution T C 3_prime_UTR_variant MALY-DE 5 180662731 180662731 single base substitution T C downstream_gene_variant MALY-DE 5 180662731 180662731 single base substitution T C exon_variant MELA-AU 5 180645297 180645297 single base substitution C T upstream_gene_variant MELA-AU 5 180646185 180646185 single base substitution G A upstream_gene_variant MELA-AU 5 180646511 180646511 single base substitution G A upstream_gene_variant MELA-AU 5 180646535 180646536 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 180647018 180647018 single base substitution C T upstream_gene_variant MELA-AU 5 180647118 180647118 single base substitution C T upstream_gene_variant MELA-AU 5 180647203 180647203 single base substitution G A upstream_gene_variant MELA-AU 5 180647701 180647701 single base substitution A T upstream_gene_variant MELA-AU 5 180648330 180648330 single base substitution G A upstream_gene_variant MELA-AU 5 180648793 180648793 single base substitution G A upstream_gene_variant MELA-AU 5 180648905 180648905 single base substitution G A upstream_gene_variant MELA-AU 5 180648972 180648972 single base substitution G A upstream_gene_variant MELA-AU 5 180648983 180648983 single base substitution C A upstream_gene_variant MELA-AU 5 180649646 180649646 single base substitution A C 5_prime_UTR_variant MELA-AU 5 180649646 180649646 single base substitution A C upstream_gene_variant MELA-AU 5 180649871 180649871 single base substitution C G intron_variant MELA-AU 5 180649871 180649871 single base substitution C G upstream_gene_variant MELA-AU 5 180649925 180649925 single base substitution A G intron_variant MELA-AU 5 180649925 180649925 single base substitution A G upstream_gene_variant MELA-AU 5 180650236 180650236 single base substitution G A intron_variant MELA-AU 5 180650236 180650236 single base substitution G A upstream_gene_variant MELA-AU 5 180650241 180650241 single base substitution G A intron_variant MELA-AU 5 180650241 180650241 single base substitution G A upstream_gene_variant MELA-AU 5 180650402 180650402 single base substitution C T 5_prime_UTR_variant MELA-AU 5 180650402 180650402 single base substitution C T exon_variant MELA-AU 5 180650402 180650402 single base substitution C T intron_variant MELA-AU 5 180650402 180650402 single base substitution C T upstream_gene_variant MELA-AU 5 180650559 180650559 single base substitution C T 5_prime_UTR_variant MELA-AU 5 180650559 180650559 single base substitution C T exon_variant MELA-AU 5 180650559 180650559 single base substitution C T intron_variant MELA-AU 5 180650559 180650559 single base substitution C T upstream_gene_variant MELA-AU 5 180650795 180650795 single base substitution C T 5_prime_UTR_variant MELA-AU 5 180650795 180650795 single base substitution C T exon_variant MELA-AU 5 180650795 180650795 single base substitution C T intron_variant MELA-AU 5 180650795 180650795 single base substitution C T upstream_gene_variant MELA-AU 5 180650953 180650953 single base substitution C T 5_prime_UTR_variant MELA-AU 5 180650953 180650953 single base substitution C T exon_variant MELA-AU 5 180650953 180650953 single base substitution C T intron_variant MELA-AU 5 180650953 180650953 single base substitution C T upstream_gene_variant MELA-AU 5 180651527 180651527 single base substitution C T exon_variant MELA-AU 5 180651527 180651527 single base substitution C T intron_variant MELA-AU 5 180651527 180651527 single base substitution C T synonymous_variant A176A 528C>T MELA-AU 5 180651527 180651527 single base substitution C T upstream_gene_variant MELA-AU 5 180651648 180651648 single base substitution C T exon_variant MELA-AU 5 180651648 180651648 single base substitution C T intron_variant MELA-AU 5 180651648 180651648 single base substitution C T stop_gained R217* 649C>T MELA-AU 5 180651648 180651648 single base substitution C T upstream_gene_variant MELA-AU 5 180652034 180652034 single base substitution C T exon_variant MELA-AU 5 180652034 180652034 single base substitution C T intron_variant MELA-AU 5 180652551 180652551 single base substitution C T exon_variant MELA-AU 5 180652551 180652551 single base substitution C T intron_variant MELA-AU 5 180652591 180652591 single base substitution C T exon_variant MELA-AU 5 180652591 180652591 single base substitution C T intron_variant MELA-AU 5 180652657 180652657 single base substitution C T exon_variant MELA-AU 5 180652657 180652657 single base substitution C T intron_variant MELA-AU 5 180653414 180653414 single base substitution T C exon_variant MELA-AU 5 180653414 180653414 single base substitution T C intron_variant MELA-AU 5 180653474 180653474 single base substitution C T exon_variant MELA-AU 5 180653474 180653474 single base substitution C T intron_variant MELA-AU 5 180654434 180654434 single base substitution C T exon_variant MELA-AU 5 180654434 180654434 single base substitution C T intron_variant MELA-AU 5 180654795 180654795 single base substitution T A exon_variant MELA-AU 5 180654795 180654795 single base substitution T A intron_variant MELA-AU 5 180654865 180654865 single base substitution C T exon_variant MELA-AU 5 180654865 180654865 single base substitution C T intron_variant MELA-AU 5 180654866 180654866 single base substitution C T exon_variant MELA-AU 5 180654866 180654866 single base substitution C T intron_variant MELA-AU 5 180655437 180655437 single base substitution A T exon_variant MELA-AU 5 180655437 180655437 single base substitution A T intron_variant MELA-AU 5 180655437 180655437 single base substitution A T upstream_gene_variant MELA-AU 5 180656282 180656283 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 5 180656282 180656283 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 180656282 180656283 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 180656474 180656475 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 5 180656474 180656475 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 180656474 180656475 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 180656971 180656971 single base substitution G T exon_variant MELA-AU 5 180656971 180656971 single base substitution G T intron_variant MELA-AU 5 180656971 180656971 single base substitution G T upstream_gene_variant MELA-AU 5 180657313 180657313 single base substitution G A exon_variant MELA-AU 5 180657313 180657313 single base substitution G A intron_variant MELA-AU 5 180657313 180657313 single base substitution G A upstream_gene_variant MELA-AU 5 180657632 180657632 single base substitution C T exon_variant MELA-AU 5 180657632 180657632 single base substitution C T intron_variant MELA-AU 5 180657632 180657632 single base substitution C T upstream_gene_variant MELA-AU 5 180658028 180658028 single base substitution C T exon_variant MELA-AU 5 180658028 180658028 single base substitution C T intron_variant MELA-AU 5 180658028 180658028 single base substitution C T upstream_gene_variant MELA-AU 5 180658324 180658324 single base substitution C T exon_variant MELA-AU 5 180658324 180658324 single base substitution C T intron_variant MELA-AU 5 180658324 180658324 single base substitution C T upstream_gene_variant MELA-AU 5 180658712 180658712 single base substitution C T exon_variant MELA-AU 5 180658712 180658712 single base substitution C T intron_variant MELA-AU 5 180658712 180658712 single base substitution C T upstream_gene_variant MELA-AU 5 180659038 180659038 single base substitution C T exon_variant MELA-AU 5 180659038 180659038 single base substitution C T intron_variant MELA-AU 5 180659038 180659038 single base substitution C T upstream_gene_variant MELA-AU 5 180659705 180659705 single base substitution G A exon_variant MELA-AU 5 180659705 180659705 single base substitution G A missense_variant R29Q 86G>A MELA-AU 5 180659705 180659705 single base substitution G A missense_variant R319Q 956G>A MELA-AU 5 180659705 180659705 single base substitution G A upstream_gene_variant MELA-AU 5 180663811 180663811 single base substitution T C downstream_gene_variant MELA-AU 5 180664595 180664595 single base substitution A C downstream_gene_variant MELA-AU 5 180664597 180664597 single base substitution A G downstream_gene_variant MELA-AU 5 180665212 180665212 single base substitution T C downstream_gene_variant MELA-AU 5 180665618 180665618 single base substitution A G downstream_gene_variant MELA-AU 5 180665620 180665620 single base substitution C A downstream_gene_variant MELA-AU 5 180665753 180665753 single base substitution C T downstream_gene_variant MELA-AU 5 180665788 180665788 single base substitution G A downstream_gene_variant MELA-AU 5 180665953 180665953 single base substitution T A downstream_gene_variant MELA-AU 5 180666405 180666405 single base substitution A T downstream_gene_variant ORCA-IN 5 180648486 180648486 single base substitution C T upstream_gene_variant ORCA-IN 5 180658351 180658351 single base substitution C A exon_variant ORCA-IN 5 180658351 180658351 single base substitution C A intron_variant ORCA-IN 5 180658351 180658351 single base substitution C A upstream_gene_variant OV-AU 5 180651928 180651928 single base substitution G A exon_variant OV-AU 5 180651928 180651928 single base substitution G A intron_variant OV-AU 5 180658301 180658301 single base substitution A T exon_variant OV-AU 5 180658301 180658301 single base substitution A T intron_variant OV-AU 5 180658301 180658301 single base substitution A T upstream_gene_variant OV-AU 5 180661985 180661985 single base substitution C G 3_prime_UTR_variant OV-AU 5 180661985 180661985 single base substitution C G downstream_gene_variant OV-AU 5 180661985 180661985 single base substitution C G exon_variant OV-AU 5 180661985 180661985 single base substitution C G intron_variant OV-AU 5 180661985 180661985 single base substitution C G synonymous_variant V507V 1521C>G OV-AU 5 180665164 180665164 single base substitution C T downstream_gene_variant PACA-AU 5 180645337 180645337 single base substitution G A upstream_gene_variant PACA-AU 5 180649265 180649265 single base substitution G T upstream_gene_variant PACA-AU 5 180649393 180649393 single base substitution C T upstream_gene_variant PACA-AU 5 180651242 180651242 single base substitution G A exon_variant PACA-AU 5 180651242 180651242 single base substitution G A intron_variant PACA-AU 5 180651242 180651242 single base substitution G A synonymous_variant G81G 243G>A PACA-AU 5 180651242 180651242 single base substitution G A upstream_gene_variant PACA-AU 5 180651253 180651253 single base substitution C T exon_variant PACA-AU 5 180651253 180651253 single base substitution C T intron_variant PACA-AU 5 180651253 180651253 single base substitution C T missense_variant P85L 254C>T PACA-AU 5 180651253 180651253 single base substitution C T upstream_gene_variant PACA-AU 5 180652863 180652863 single base substitution T C exon_variant PACA-AU 5 180652863 180652863 single base substitution T C intron_variant PACA-AU 5 180653811 180653811 single base substitution A G exon_variant PACA-AU 5 180653811 180653811 single base substitution A G intron_variant PACA-AU 5 180653871 180653871 single base substitution T C exon_variant PACA-AU 5 180653871 180653871 single base substitution T C intron_variant PACA-AU 5 180655216 180655216 single base substitution C T exon_variant PACA-AU 5 180655216 180655216 single base substitution C T intron_variant PACA-AU 5 180657355 180657355 single base substitution G A exon_variant PACA-AU 5 180657355 180657355 single base substitution G A intron_variant PACA-AU 5 180657355 180657355 single base substitution G A upstream_gene_variant PACA-AU 5 180657484 180657484 single base substitution G A exon_variant PACA-AU 5 180657484 180657484 single base substitution G A intron_variant PACA-AU 5 180657484 180657484 single base substitution G A upstream_gene_variant PACA-AU 5 180660474 180660474 single base substitution T A exon_variant PACA-AU 5 180660474 180660474 single base substitution T A intron_variant PACA-AU 5 180660474 180660474 single base substitution T A upstream_gene_variant PACA-AU 5 180661502 180661502 single base substitution C G downstream_gene_variant PACA-AU 5 180661502 180661502 single base substitution C G exon_variant PACA-AU 5 180661502 180661502 single base substitution C G intron_variant PACA-AU 5 180661502 180661502 single base substitution C G synonymous_variant P540P 1620C>G PACA-CA 5 180647346 180647346 single base substitution G A upstream_gene_variant PACA-CA 5 180649481 180649481 single base substitution T C upstream_gene_variant PACA-CA 5 180651455 180651455 insertion of <=200bp - GGAGAG disruptive_inframe_insertion D152EES PACA-CA 5 180651455 180651455 insertion of <=200bp - GGAGAG exon_variant PACA-CA 5 180651455 180651455 insertion of <=200bp - GGAGAG intron_variant PACA-CA 5 180651455 180651455 insertion of <=200bp - GGAGAG upstream_gene_variant PACA-CA 5 180652109 180652109 single base substitution C T exon_variant PACA-CA 5 180652109 180652109 single base substitution C T intron_variant PACA-CA 5 180655834 180655834 single base substitution T C exon_variant PACA-CA 5 180655834 180655834 single base substitution T C intron_variant PACA-CA 5 180655834 180655834 single base substitution T C upstream_gene_variant PACA-CA 5 180657022 180657022 deletion of <=200bp A - exon_variant PACA-CA 5 180657022 180657022 deletion of <=200bp A - intron_variant PACA-CA 5 180657022 180657022 deletion of <=200bp A - upstream_gene_variant PACA-CA 5 180657408 180657408 single base substitution A G exon_variant PACA-CA 5 180657408 180657408 single base substitution A G intron_variant PACA-CA 5 180657408 180657408 single base substitution A G upstream_gene_variant PACA-CA 5 180657720 180657720 single base substitution A G exon_variant PACA-CA 5 180657720 180657720 single base substitution A G intron_variant PACA-CA 5 180657720 180657720 single base substitution A G upstream_gene_variant PACA-CA 5 180658716 180658716 single base substitution C T exon_variant PACA-CA 5 180658716 180658716 single base substitution C T intron_variant PACA-CA 5 180658716 180658716 single base substitution C T upstream_gene_variant PACA-CA 5 180659623 180659623 single base substitution G A exon_variant PACA-CA 5 180659623 180659623 single base substitution G A intron_variant PACA-CA 5 180659623 180659623 single base substitution G A upstream_gene_variant PACA-CA 5 180665731 180665731 single base substitution G A downstream_gene_variant PACA-CA 5 180665747 180665747 single base substitution C T downstream_gene_variant PACA-CA 5 180667049 180667049 deletion of <=200bp A - downstream_gene_variant PAEN-AU 5 180646361 180646361 single base substitution G T upstream_gene_variant PAEN-AU 5 180651217 180651217 single base substitution T G exon_variant PAEN-AU 5 180651217 180651217 single base substitution T G intron_variant PAEN-AU 5 180651217 180651217 single base substitution T G missense_variant V73G 218T>G PAEN-AU 5 180651217 180651217 single base substitution T G upstream_gene_variant PAEN-IT 5 180654411 180654411 single base substitution G A exon_variant PAEN-IT 5 180654411 180654411 single base substitution G A intron_variant PBCA-DE 5 180653103 180653103 insertion of <=200bp - T exon_variant PBCA-DE 5 180653103 180653103 insertion of <=200bp - T intron_variant PRAD-CA 5 180663787 180663787 single base substitution G A downstream_gene_variant PRAD-CA 5 180665001 180665001 single base substitution A T downstream_gene_variant PRAD-UK 5 180644649 180644649 single base substitution G C upstream_gene_variant PRAD-UK 5 180647554 180647554 single base substitution C A upstream_gene_variant PRAD-UK 5 180653982 180653982 single base substitution C T exon_variant PRAD-UK 5 180653982 180653982 single base substitution C T intron_variant PRAD-UK 5 180662378 180662381 deletion of <=200bp GAGA - 3_prime_UTR_variant PRAD-UK 5 180662378 180662381 deletion of <=200bp GAGA - downstream_gene_variant PRAD-UK 5 180662378 180662381 deletion of <=200bp GAGA - exon_variant PRAD-UK 5 180662378 180662381 deletion of <=200bp GAGA - frameshift_variant *519 RECA-EU 5 180649214 180649214 single base substitution T C upstream_gene_variant RECA-EU 5 180649723 180649723 single base substitution C T 5_prime_UTR_variant RECA-EU 5 180649723 180649723 single base substitution C T upstream_gene_variant RECA-EU 5 180652682 180652682 single base substitution C G exon_variant RECA-EU 5 180652682 180652682 single base substitution C G intron_variant RECA-EU 5 180655952 180655952 single base substitution A C exon_variant RECA-EU 5 180655952 180655952 single base substitution A C intron_variant RECA-EU 5 180655952 180655952 single base substitution A C upstream_gene_variant RECA-EU 5 180663338 180663338 single base substitution A G downstream_gene_variant RECA-EU 5 180663397 180663397 single base substitution G A downstream_gene_variant SKCA-BR 5 180645632 180645632 single base substitution A C upstream_gene_variant SKCA-BR 5 180650199 180650199 single base substitution G A intron_variant SKCA-BR 5 180650199 180650199 single base substitution G A upstream_gene_variant SKCA-BR 5 180650221 180650221 single base substitution G A intron_variant SKCA-BR 5 180650221 180650221 single base substitution G A upstream_gene_variant SKCA-BR 5 180650430 180650430 single base substitution A G 5_prime_UTR_variant SKCA-BR 5 180650430 180650430 single base substitution A G exon_variant SKCA-BR 5 180650430 180650430 single base substitution A G intron_variant SKCA-BR 5 180650430 180650430 single base substitution A G upstream_gene_variant SKCA-BR 5 180650846 180650846 single base substitution T G 5_prime_UTR_variant SKCA-BR 5 180650846 180650846 single base substitution T G exon_variant SKCA-BR 5 180650846 180650846 single base substitution T G intron_variant SKCA-BR 5 180650846 180650846 single base substitution T G upstream_gene_variant SKCA-BR 5 180658358 180658358 single base substitution C G exon_variant SKCA-BR 5 180658358 180658358 single base substitution C G intron_variant SKCA-BR 5 180658358 180658358 single base substitution C G upstream_gene_variant SKCA-BR 5 180660045 180660045 single base substitution A G exon_variant SKCA-BR 5 180660045 180660045 single base substitution A G intron_variant SKCA-BR 5 180660045 180660045 single base substitution A G upstream_gene_variant SKCA-BR 5 180667048 180667048 single base substitution C A downstream_gene_variant SKCM-US 5 180659705 180659705 single base substitution G A exon_variant SKCM-US 5 180659705 180659705 single base substitution G A missense_variant R29Q 86G>A SKCM-US 5 180659705 180659705 single base substitution G A missense_variant R319Q 956G>A SKCM-US 5 180659705 180659705 single base substitution G A upstream_gene_variant SKCM-US 5 180661489 180661489 single base substitution G A downstream_gene_variant SKCM-US 5 180661489 180661489 single base substitution G A exon_variant SKCM-US 5 180661489 180661489 single base substitution G A intron_variant SKCM-US 5 180661489 180661489 single base substitution G A missense_variant R536Q 1607G>A SKCM-US 5 180665143 180665143 single base substitution G A downstream_gene_variant SKCM-US 5 180665212 180665212 single base substitution T C downstream_gene_variant SKCM-US 5 180666103 180666103 single base substitution G A downstream_gene_variant STAD-US 5 180651147 180651147 single base substitution G A exon_variant STAD-US 5 180651147 180651147 single base substitution G A intron_variant STAD-US 5 180651147 180651147 single base substitution G A missense_variant G50R 148G>A STAD-US 5 180651147 180651147 single base substitution G A upstream_gene_variant STAD-US 5 180651518 180651518 single base substitution G A exon_variant STAD-US 5 180651518 180651518 single base substitution G A intron_variant STAD-US 5 180651518 180651518 single base substitution G A synonymous_variant P173P 519G>A STAD-US 5 180651518 180651518 single base substitution G A upstream_gene_variant STAD-US 5 180659794 180659794 single base substitution G A exon_variant STAD-US 5 180659794 180659794 single base substitution G A missense_variant A349T 1045G>A STAD-US 5 180659794 180659794 single base substitution G A missense_variant A59T 175G>A STAD-US 5 180659794 180659794 single base substitution G A upstream_gene_variant STAD-US 5 180661180 180661180 single base substitution T G 3_prime_UTR_variant STAD-US 5 180661180 180661180 single base substitution T G downstream_gene_variant STAD-US 5 180661180 180661180 single base substitution T G exon_variant STAD-US 5 180661180 180661180 single base substitution T G missense_variant L143R 428T>G STAD-US 5 180661180 180661180 single base substitution T G missense_variant L433R 1298T>G STAD-US 5 180661295 180661295 single base substitution C T 3_prime_UTR_variant STAD-US 5 180661295 180661295 single base substitution C T downstream_gene_variant STAD-US 5 180661295 180661295 single base substitution C T exon_variant STAD-US 5 180661295 180661295 single base substitution C T synonymous_variant A181A 543C>T STAD-US 5 180661295 180661295 single base substitution C T synonymous_variant A471A 1413C>T STAD-US 5 180661483 180661483 single base substitution G A downstream_gene_variant STAD-US 5 180661483 180661483 single base substitution G A exon_variant STAD-US 5 180661483 180661483 single base substitution G A intron_variant STAD-US 5 180661483 180661483 single base substitution G A missense_variant R534H 1601G>A STAD-US 5 180661667 180661668 deletion of <=200bp AG - downstream_gene_variant STAD-US 5 180661667 180661668 deletion of <=200bp AG - exon_variant STAD-US 5 180661667 180661668 deletion of <=200bp AG - frameshift_variant AE595 STAD-US 5 180661667 180661668 deletion of <=200bp AG - intron_variant STAD-US 5 180661717 180661718 deletion of <=200bp GT - downstream_gene_variant STAD-US 5 180661717 180661718 deletion of <=200bp GT - exon_variant STAD-US 5 180661717 180661718 deletion of <=200bp GT - frameshift_variant R612 STAD-US 5 180661717 180661718 deletion of <=200bp GT - intron_variant STAD-US 5 180664659 180664659 single base substitution T C downstream_gene_variant STAD-US 5 180664713 180664713 single base substitution C G downstream_gene_variant STAD-US 5 180665127 180665127 single base substitution G A downstream_gene_variant STAD-US 5 180665164 180665164 single base substitution C T downstream_gene_variant STAD-US 5 180666109 180666109 single base substitution C T downstream_gene_variant UCEC-US 5 180651056 180651056 single base substitution G A exon_variant UCEC-US 5 180651056 180651056 single base substitution G A intron_variant UCEC-US 5 180651056 180651056 single base substitution G A synonymous_variant V19V 57G>A UCEC-US 5 180651056 180651056 single base substitution G A upstream_gene_variant UCEC-US 5 180651150 180651150 single base substitution G A exon_variant UCEC-US 5 180651150 180651150 single base substitution G A intron_variant UCEC-US 5 180651150 180651150 single base substitution G A missense_variant E51K 151G>A UCEC-US 5 180651150 180651150 single base substitution G A upstream_gene_variant UCEC-US 5 180651512 180651512 single base substitution G A exon_variant UCEC-US 5 180651512 180651512 single base substitution G A intron_variant UCEC-US 5 180651512 180651512 single base substitution G A synonymous_variant L171L 513G>A UCEC-US 5 180651512 180651512 single base substitution G A upstream_gene_variant UCEC-US 5 180651586 180651586 single base substitution G A exon_variant UCEC-US 5 180651586 180651586 single base substitution G A intron_variant UCEC-US 5 180651586 180651586 single base substitution G A missense_variant R196H 587G>A UCEC-US 5 180651586 180651586 single base substitution G A upstream_gene_variant UCEC-US 5 180651717 180651717 single base substitution G A exon_variant UCEC-US 5 180651717 180651717 single base substitution G A intron_variant UCEC-US 5 180651717 180651717 single base substitution G A missense_variant V240I 718G>A UCEC-US 5 180659802 180659802 single base substitution T C exon_variant UCEC-US 5 180659802 180659802 single base substitution T C synonymous_variant S351S 1053T>C UCEC-US 5 180659802 180659802 single base substitution T C synonymous_variant S61S 183T>C UCEC-US 5 180659802 180659802 single base substitution T C upstream_gene_variant UCEC-US 5 180660759 180660759 single base substitution G A 3_prime_UTR_variant UCEC-US 5 180660759 180660759 single base substitution G A downstream_gene_variant UCEC-US 5 180660759 180660759 single base substitution G A exon_variant UCEC-US 5 180660759 180660759 single base substitution G A synonymous_variant A139A 417G>A UCEC-US 5 180660759 180660759 single base substitution G A synonymous_variant A429A 1287G>A UCEC-US 5 180661715 180661715 single base substitution G A downstream_gene_variant UCEC-US 5 180661715 180661715 single base substitution G A exon_variant UCEC-US 5 180661715 180661715 single base substitution G A intron_variant UCEC-US 5 180661715 180661715 single base substitution G A synonymous_variant E611E 1833G>A UCEC-US 5 180662362 180662362 single base substitution G T 3_prime_UTR_variant UCEC-US 5 180662362 180662362 single base substitution G T downstream_gene_variant UCEC-US 5 180662362 180662362 single base substitution G T exon_variant UCEC-US 5 180662362 180662362 single base substitution G T stop_gained E514* 1540G>T UCEC-US 5 180665102 180665102 single base substitution G T downstream_gene_variant UCEC-US 5 180666574 180666574 single base substitution G T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-44-T COSM4530804 c.172G>A p.E58K Substitution - Missense 5:181224171-181224171 + 8069334 COSM4388386 c.243G>A p.G81G Substitution - coding silent 5:181224242-181224242 + TCGA-BR-A4QL-01 COSM3854466 c.1298T>G p.L433R Substitution - Missense 5:181234180-181234180 + LUAD-S01357 COSM387624 c.489G>T p.E163D Substitution - Missense 5:181224488-181224488 + ACINAR29 COSM1733669 c.382G>A p.D128N Substitution - Missense 5:181224381-181224381 + LIM2405 COSM208811 c.1119delG p.G375fs*39 Deletion - Frameshift 5:181232868-181232868 + CN-AML-20-T COSM1132180 c.244T>G p.W82G Substitution - Missense 5:181224243-181224243 + SNU-175 COSM4650681 c.1037C>T p.A346V Substitution - Missense 5:181232786-181232786 + TCGA-BR-4361-01 COSM3854462 c.148G>A p.G50R Substitution - Missense 5:181224147-181224147 + TCGA-BS-A0TJ-01 COSM1066928 c.587G>A p.R196H Substitution - Missense 5:181224586-181224586 + TCGA-BH-A0W7-01 COSM449482 c.353A>G p.D118G Substitution - Missense 5:181224352-181224352 + TCGA-F4-6855-01 COSM1436769 c.186G>A p.E62E Substitution - coding silent 5:181224185-181224185 + T578 COSM4736092 c.94T>C p.S32P Substitution - Missense 5:181224093-181224093 + TCGA-EJ-5525-01 COSM1132180 c.244T>G p.W82G Substitution - Missense 5:181224243-181224243 + TCGA-AP-A0LM-01 COSM1066938 c.1833G>A p.E611E Substitution - coding silent 5:181234715-181234715 + SNU-175 COSM3013084 c.1045G>A p.A349T Substitution - Missense 5:181232794-181232794 + Pat_15_B COSM5868348 c.1256G>A p.R419K Substitution - Missense 5:181233728-181233728 + B71 COSM1754232 c.1239G>A p.L413L Substitution - coding silent 5:181233711-181233711 + CRC-19T COSM5482389 c.1785_1786delAG p.E596fs*>35 Deletion - Frameshift 5:181234667-181234668 + T3090 COSM4736106 c.1502G>A p.G501D Substitution - Missense 5:181234384-181234384 + TCGA-EE-A2M5-06 COSM3615051 c.956G>A p.R319Q Substitution - Missense 5:181232705-181232705 + HCC159T COSM1620189 c.1591C>T p.H531Y Substitution - Missense 5:181234473-181234473 + CSCC-42-T COSM4465622 c.1392C>T p.D464D Substitution - coding silent 5:181234274-181234274 + WA19 COSM242042 c.1328C>T p.A443V Substitution - Missense 5:181234210-181234210 + CSCC-10-T COSM4452180 c.1637A>T p.Q546L Substitution - Missense 5:181234519-181234519 + 587342 COSM1230337 c.1286C>T p.A429V Substitution - Missense 5:181233758-181233758 + TCGA-K4-A3WS-01 COSM3776608 c.1704G>A p.T568T Substitution - coding silent 5:181234586-181234586 + TCGA-AG-3999-01 COSM258916 c.557G>A p.C186Y Substitution - Missense 5:181224556-181224556 + HCC159 COSM1620189 c.1591C>T p.H531Y Substitution - Missense 5:181234473-181234473 + U343 COSM5712348 c.1749G>A p.L583L Substitution - coding silent 5:181234631-181234631 + CSB16 COSM5026470 c.359T>A p.M120K Substitution - Missense 5:181224358-181224358 + CSCC-18-T COSM4454671 c.554A>G p.Q185R Substitution - Missense 5:181224553-181224553 + I2L-P19Tb-Tumor-Organoid COSM4628413 c.1487G>A p.R496Q Substitution - Missense 5:181234369-181234369 + CN-AML-NR-20-Dx COSM1132180 c.244T>G p.W82G Substitution - Missense 5:181224243-181224243 + I2L-P19Tb-Tumor-Biopsy COSM4628413 c.1487G>A p.R496Q Substitution - Missense 5:181234369-181234369 + T276 COSM4736090 c.41delT p.Q15fs*30 Deletion - Frameshift 5:181224040-181224040 + HCC139 COSM1620187 c.894A>G p.R298R Substitution - coding silent 5:181230824-181230824 + T3080 COSM4736102 c.1379_1381delAGG p.E461delE Deletion - In frame 5:181234261-181234263 + PT48 COSM5931777 c.508C>T p.P170S Substitution - Missense 5:181224507-181224507 + S0029 COSM5884212 c.785C>T p.P262L Substitution - Missense 5:181224784-181224784 + TCGA-AC-A23H-01 COSM3827904 c.1812C>T p.F604F Substitution - coding silent 5:181234694-181234694 + MDA-MB-231 COSM1684054 c.1788_1789delGA p.E596fs*>35 Deletion - Frameshift 5:181234670-181234671 + RKO COSM3013052 c.257T>C p.M86T Substitution - Missense 5:181224256-181224256 + pfg019T COSM1642717 c.1834C>T p.R612C Substitution - Missense 5:181234716-181234716 + 2318492 COSM4777024 c.1275C>G p.F425L Substitution - Missense 5:181233747-181233747 + TCGA-B8-4620-01 COSM482678 c.557G>C p.C186S Substitution - Missense 5:181224556-181224556 + ESO-887 COSM1268539 c.1446C>T p.R482R Substitution - coding silent 5:181234328-181234328 + PT46 COSM5928761 c.385G>A p.E129K Substitution - Missense 5:181224384-181224384 + TCGA-D1-A15X-01 COSM1066922 c.57G>A p.V19V Substitution - coding silent 5:181224056-181224056 + PT14_1 COSM5896793 c.1381G>A p.E461K Substitution - Missense 5:181234263-181234263 + TCGA-BR-8686-01 COSM3854468 c.1413C>T p.A471A Substitution - coding silent 5:181234295-181234295 + PD18754a COSM5798701 c.532C>T p.R178W Substitution - Missense 5:181224531-181224531 + TCGA-DD-A73C-01 COSM3013114 c.1667G>A p.G556D Substitution - Missense 5:181234549-181234549 + TCGA-CD-A4MI-01 COSM208812 c.1601G>A p.R534H Substitution - Missense 5:181234483-181234483 + 8068595 COSM4406598 c.218T>G p.V73G Substitution - Missense 5:181224217-181224217 + TCGA-BT-A2LB-01 COSM3776606 c.1237C>T p.L413L Substitution - coding silent 5:181233709-181233709 + T263 COSM4736098 c.1163+1_1163+2delGT p.? Unknown 5:181233436-181233437 + ESO-708 COSM1268537 c.1398C>T p.P466P Substitution - coding silent 5:181234280-181234280 + CHEWS005 COSM4585803 c.1558G>A p.V520M Substitution - Missense 5:181234440-181234440 + CHEWS003 COSM4585804 c.1814C>T p.S605L Substitution - Missense 5:181234696-181234696 + T2269 COSM4736094 c.560G>A p.R187Q Substitution - Missense 5:181224559-181224559 + TCGA-B0-5077-01 COSM482676 c.531T>A p.P177P Substitution - coding silent 5:181224530-181224530 + TCGA-AG-A002-01 COSM264190 c.1425A>G p.V475V Substitution - coding silent 5:181234307-181234307 + HCC139T COSM1620187 c.894A>G p.R298R Substitution - coding silent 5:181230824-181230824 + TCGA-LP-A7HU-01 COSM4825707 c.1585C>T p.R529C Substitution - Missense 5:181234467-181234467 + LS411 COSM4646748 c.1511G>A p.R504H Substitution - Missense 5:181234393-181234393 + BZ24 COSM5758689 c.423G>A p.E141E Substitution - coding silent 5:181224422-181224422 + RMS10_ COSM4985979 c.1598G>A p.R533H Substitution - Missense 5:181234480-181234480 + HCT116 COSM4612463 c.1546delG p.G517fs*54 Deletion - Frameshift 5:181234428-181234428 + TCGA-EK-A2RJ-01 COSM4831737 c.888G>C p.E296D Substitution - Missense 5:181230818-181230818 + BD124T COSM5491984 c.404A>G p.Y135C Substitution - Missense 5:181224403-181224403 + HN_00190 COSM122125 c.889A>C p.R297R Substitution - coding silent 5:181230819-181230819 + CHEWS033 COSM3013108 c.1428G>T p.L476L Substitution - coding silent 5:181234310-181234310 + 8065650 COSM3393510 c.254C>T p.P85L Substitution - Missense 5:181224253-181224253 + TCGA-AM-5820-01 COSM3761179 c.1374G>C p.R458R Substitution - coding silent 5:181234256-181234256 + Pat_41_B COSM5868350 c.1858C>T p.L620F Substitution - Missense 5:181234740-181234740 + WA16 COSM242038 c.442delG p.E148fs*18 Deletion - Frameshift 5:181224441-181224441 + PTC-1C COSM4159833 c.1494G>T p.W498C Substitution - Missense 5:181234376-181234376 + Au4 COSM5605181 c.528C>T p.A176A Substitution - coding silent 5:181224527-181224527 + TCGA-A1-A0SI-01 COSM1486695 c.358A>G p.M120V Substitution - Missense 5:181224357-181224357 + TCGA-AO-A124-01 COSM449484 c.1890T>C p.P630P Substitution - coding silent 5:181234772-181234772 + TCGA-HT-7693-01 COSM3975476 c.436A>T p.R146W Substitution - Missense 5:181224435-181224435 + TCGA-GF-A6C9-06 COSM4903808 c.1607G>A p.R536Q Substitution - Missense 5:181234489-181234489 + T407 COSM4736096 c.849G>A p.K283K Substitution - coding silent 5:181230779-181230779 + PD4203a COSM165135 c.724G>T p.E242* Substitution - Nonsense 5:181224723-181224723 + 587256 COSM1230339 c.1640G>A p.R547Q Substitution - Missense 5:181234522-181234522 + YUROC COSM5403261 c.28C>T p.P10S Substitution - Missense 5:181224027-181224027 + HN_62646 COSM129895 c.157G>A p.E53K Substitution - Missense 5:181224156-181224156 + TCGA-BS-A0TC-01 COSM1066930 c.718G>A p.V240I Substitution - Missense 5:181224717-181224717 + TCGA-G4-6304-01 COSM1436772 c.1733G>A p.R578H Substitution - Missense 5:181234615-181234615 + HN_62854 COSM129896 c.564G>C p.K188N Substitution - Missense 5:181224563-181224563 + TCGA-D1-A17U-01 COSM1066936 c.1287G>A p.A429A Substitution - coding silent 5:181233759-181233759 + TCGA-GI-A2C9-01 COSM3827902 c.878C>G p.A293G Substitution - Missense 5:181230808-181230808 + LIM2405 COSM4642988 c.1601G>T p.R534L Substitution - Missense 5:181234483-181234483 + WA16 COSM242040 c.955C>T p.R319* Substitution - Nonsense 5:181232704-181232704 + TCGA-33-4582-01 COSM737418 c.1204C>T p.P402S Substitution - Missense 5:181233676-181233676 + TCGA-FU-A3HZ-01 COSM4839592 c.1171G>A p.E391K Substitution - Missense 5:181233643-181233643 + TCGA-D7-A4YX-01 COSM3013084 c.1045G>A p.A349T Substitution - Missense 5:181232794-181232794 + LIM2551 COSM4644667 c.1707G>A p.L569L Substitution - coding silent 5:181234589-181234589 + Gp5D COSM4628413 c.1487G>A p.R496Q Substitution - Missense 5:181234369-181234369 + Gp2D COSM4628413 c.1487G>A p.R496Q Substitution - Missense 5:181234369-181234369 + T16 COSM3761179 c.1374G>C p.R458R Substitution - coding silent 5:181234256-181234256 + PCSI_0104_Pa_P COSM5420102 c.456_457insGGAGAG p.D152_E153insGE Insertion - In frame 5:181224455-181224456 + CHEWS036 COSM4585805 c.1888C>T p.P630S Substitution - Missense 5:181234770-181234770 + sysucc-834T COSM1436772 c.1733G>A p.R578H Substitution - Missense 5:181234615-181234615 + TCGA-CH-5745-01 COSM1132180 c.244T>G p.W82G Substitution - Missense 5:181224243-181224243 + pfg014T COSM1642713 c.55G>T p.V19L Substitution - Missense 5:181224054-181224054 + HCC009T COSM5819918 c.1799A>G p.H600R Substitution - Missense 5:181234681-181234681 + TCGA-UB-A7MB-01 COSM4932825 c.1843C>A p.P615T Substitution - Missense 5:181234725-181234725 + B71-Tumor COSM1754232 c.1239G>A p.L413L Substitution - coding silent 5:181233711-181233711 + C135 COSM4618507 c.1726C>G p.P576A Substitution - Missense 5:181234608-181234608 + RK119_C01 COSM3744821 c.1725A>G p.K575K Substitution - coding silent 5:181234607-181234607 + KM12 COSM3013112 c.1623_1631delGCAGCCCCT p.Q542_L544delQPL Deletion - In frame 5:181234505-181234513 + TCGA-BS-A0UJ-01 COSM1066932 c.1053T>C p.S351S Substitution - coding silent 5:181232802-181232802 + TCGA-D5-6928-01 COSM1436773 c.1784C>A p.A595E Substitution - Missense 5:181234666-181234666 + LC_S25 COSM1186927 c.143G>T p.W48L Substitution - Missense 5:181224142-181224142 + PTC-1C COSM4159831 c.1471G>T p.E491* Substitution - Nonsense 5:181234353-181234353 + SNUH_G76_S1 COSM4003491 c.232G>A p.A78T Substitution - Missense 5:181224231-181224231 + TCGA-AP-A056-01 COSM1066928 c.587G>A p.R196H Substitution - Missense 5:181224586-181224586 + TCGA-BR-4257-01 COSM3854464 c.519G>A p.P173P Substitution - coding silent 5:181224518-181224518 + YUDIALE COSM1696857 c.146G>A p.G49D Substitution - Missense 5:181224145-181224145 + TCGA-19-4068-01 COSM2156503 c.778G>A p.V260M Substitution - Missense 5:181224777-181224777 + TCGA-AA-3510-01 COSM3696846 c.918G>T p.M306I Substitution - Missense 5:181232667-181232667 + SNUH_G45_S1 COSM4003491 c.232G>A p.A78T Substitution - Missense 5:181224231-181224231 + I2L-P17-Tumor-Organoid COSM5356484 c.344C>G p.S115C Substitution - Missense 5:181224343-181224343 + CSCC-57-T COSM4464704 c.1348C>T p.R450C Substitution - Missense 5:181234230-181234230 + 8014573 COSM3393512 c.1620C>G p.P540P Substitution - coding silent 5:181234502-181234502 + LIM1215 COSM4347490 c.1071C>T p.A357A Substitution - coding silent 5:181232820-181232820 + MEL-Ma-Mel-55 COSM1167731 c.1622_1623delAG p.Q541fs*33 Deletion - Frameshift 5:181234504-181234505 + 587342 COSM1230335 c.530C>A p.P177H Substitution - Missense 5:181224529-181224529 + T2941 COSM4736104 c.1414G>A p.D472N Substitution - Missense 5:181234296-181234296 + 1N05-VS-1T05 COSM4972899 c.1583C>T p.S528L Substitution - Missense 5:181234465-181234465 + TCGA-19-4068 COSM2156503 c.778G>A p.V260M Substitution - Missense 5:181224777-181224777 + T1743 COSM4736100 c.1352delG p.V453fs*38 Deletion - Frameshift 5:181234234-181234234 + BN31T COSM1620189 c.1591C>T p.H531Y Substitution - Missense 5:181234473-181234473 + pfg024T COSM1642715 c.1292-10C>G p.? Unknown 5:181234164-181234164 + TCGA-AP-A0LM-01 COSM1066924 c.151G>A p.E51K Substitution - Missense 5:181224150-181224150 + TCGA-NI-A4U2-01 COSM4909654 c.722A>G p.D241G Substitution - Missense 5:181224721-181224721 + TCGA-D1-A0ZS-01 COSM1066926 c.513G>A p.L171L Substitution - coding silent 5:181224512-181224512 + TCGA-BT-A20V-01 COSM420743 c.1795G>A p.A599T Substitution - Missense 5:181234677-181234677 + CSCC-56-T COSM4459242 c.1117C>T p.Q373* Substitution - Nonsense 5:181232866-181232866 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.441388;Hs.441390;Hs.441395;Hs.441407;Hs.441416;Hs.441421;Hs.441432;Hs.441488 5q35.3 610530 245596|dbSNP|BC009762|C/G|coding|Arg38Arg|153|Validated; 245596|dbSNP|BC018765|C/G|coding|Arg373Arg|1141|Validated; 245596|dbSNP|BC090953|C/G|coding|Arg458Arg|1653|Validated Hs.700229;Hs.700245;Hs.700263;Hs.700287;Hs.700295;Hs.700297;Hs.700302;Hs.700303 5q35.3 610530 245596|dbSNP|BC009762|C/G|coding|Arg38Arg|153|Validated; 245596|dbSNP|BC018765|C/G|coding|Arg373Arg|1141|Validated; 245596|dbSNP|BC090953|C/G|coding|Arg458Arg|1653|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.R297R c.889A>C 5 180657819 HNSC AG - Frameshift p.Q541Pfs*33 c.1622_1623delAG 5 180661504 CM A G Missense p.D118G c.353A>G 5 180651352 BRCA A G Missense p.M120V c.358A>G 5 180651357 BRCA A T Missense p.R146W c.436A>T 5 180651435 LGG C G IntronicSNV . c.1292-10C>G 5 180661164 STAD C G Missense p.L324V c.970C>G 5 180659719 COREAD C T IntronicSNV . c.1163+9C>T 5 180660444 CM C T IntronicSNV . c.813+87C>T 5 180651899 CM C T Missense p.P402S c.1204C>T 5 180660676 LUSC C T Missense p.P85L c.254C>T 5 180651253 CM C T Missense p.R612C c.1834C>T 5 180661716 STAD C T Missense p.R87W c.259C>T 5 180651258 LUAD C T Nonsense p.Q268* c.802C>T 5 180651801 LUAD C T Synonymous p.L310L c.928C>T 5 180659677 LUAD C T Synonymous p.L413L c.1237C>T 5 180660709 BLCA C T Synonymous p.P466P c.1398C>T 5 180661280 ESCA C T Synonymous p.R482R c.1446C>T 5 180661328 ESCA G A IntronicSNV . c.1291+64G>A 5 180660827 HC G A Missense p.A599T c.1795G>A 5 180661677 BLCA G A Missense p.C186Y c.557G>A 5 180651556 COREAD G A Missense p.E53K c.157G>A 5 180651156 HNSC G A Missense p.G50E c.149G>A 5 180651148 CM G A Missense p.R196H c.587G>A 5 180651586 UCEC G A Missense p.R319Q c.956G>A 5 180659705 CM G A Missense p.R345H c.1034G>A 5 180659783 STAD G A Missense p.V240I c.718G>A 5 180651717 UCEC G A Missense p.V260M c.778G>A 5 180651777 GBM G A Synonymous p.A429A c.1287G>A 5 180660759 UCEC G A Synonymous p.K188K c.564G>A 5 180651563 CM G A Synonymous p.L171L c.513G>A 5 180651512 UCEC G A Synonymous p.P173P c.519G>A 5 180651518 STAD G C Missense p.C186S c.557G>C 5 180651556 RCCC G C Missense p.K188N c.564G>C 5 180651563 HNSC G - Frameshift p.G375Vfs*39 c.1124delG 5 180659868 COREAD G T Missense p.V19L c.55G>T 5 180651054 STAD G T Missense p.W117L c.350G>T 5 180651349 CM G T Nonsense p.E242* c.724G>T 5 180651723 BRCA T A Missense p.M120K c.359T>A 5 180651358 BRCA T A Synonymous p.P177P c.531T>A 5 180651530 RCCC T C 3-UTRSNV . c.1890+434T>C 5 180662206 DLBCL T C CdsStopSNV . c.1890T>C 5 180661772 BRCA T G Missense p.W82G c.244T>G 5 180651243 HNSC T G Missense p.W82G c.244T>G 5 180651243 LGG T G Missense p.W82G c.244T>G 5 180651243 PRAD