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 1 202863829 202863829 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr1:202863829C>T c.1184G>A c.(1183-1185)aGt>aAt p.S395N BLCA 1 202863851 202863851 + Missense_Mutation SNP C C G TCGA-GC-A6I3-01A-11D-A31L-08 TCGA-GC-A6I3-10A-01D-A31J-08 g.chr1:202863851C>G c.1162G>C c.(1162-1164)Gat>Cat p.D388H BLCA 1 202864796 202864796 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 g.chr1:202864796C>T c.989G>A c.(988-990)cGg>cAg p.R330Q BLCA 1 202878183 202878183 + Missense_Mutation SNP C C T TCGA-GU-A42P-01A-11D-A23U-08 TCGA-GU-A42P-10A-01D-A23U-08 g.chr1:202878183C>T c.787G>A c.(787-789)Gaa>Aaa p.E263K BLCA 1 202880184 202880184 + Missense_Mutation SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr1:202880184C>T c.715G>A c.(715-717)Gag>Aag p.E239K BLCA 1 202880190 202880190 + Missense_Mutation SNP C C G TCGA-GD-A2C5-01A-12D-A17V-08 TCGA-GD-A2C5-10A-01D-A17V-08 g.chr1:202880190C>G c.709G>C c.(709-711)Gat>Cat p.D237H BLCA 1 202880253 202880253 + Missense_Mutation SNP G G C TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr1:202880253G>C c.646C>G c.(646-648)Cct>Gct p.P216A BLCA 1 202880307 202880307 + Missense_Mutation SNP C C G TCGA-GD-A2C5-01A-12D-A17V-08 TCGA-GD-A2C5-10A-01D-A17V-08 g.chr1:202880307C>G c.592G>C c.(592-594)Gag>Cag p.E198Q BLCA 1 202894178 202894178 + Missense_Mutation SNP C C G TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr1:202894178C>G c.113G>C c.(112-114)aGa>aCa p.R38T BRCA 1 202862414 202862414 + Missense_Mutation SNP G G C TCGA-A8-A09N-01A-11W-A019-09 TCGA-A8-A09N-10A-01W-A021-09 g.chr1:202862414G>C c.1533C>G c.(1531-1533)tgC>tgG p.C511W BRCA 1 202862535 202862535 + Missense_Mutation SNP A A G TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 g.chr1:202862535A>G c.1412T>C c.(1411-1413)cTg>cCg p.L471P BRCA 1 202878177 202878177 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr1:202878177G>A c.793C>T c.(793-795)Cgg>Tgg p.R265W BRCA 1 202894213 202894213 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr1:202894213G>C c.78C>G c.(76-78)ctC>ctG p.L26L CESC 1 202880319 202880319 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr1:202880319C>G c.580G>C c.(580-582)Gag>Cag p.E194Q COAD 1 202861788 202861788 + Splice_Site SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:202861788C>A c.e12-1 COAD 1 202864766 202864766 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr1:202864766C>T c.1019G>A c.(1018-1020)cGt>cAt p.R340H COAD 1 202866003 202866003 + Silent SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:202866003A>C c.918T>G c.(916-918)acT>acG p.T306T COAD 1 202880233 202880233 + Silent SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr1:202880233C>T c.666G>A c.(664-666)gtG>gtA p.V222V COAD 1 202880303 202880303 + Missense_Mutation SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr1:202880303G>A c.596C>T c.(595-597)gCt>gTt p.A199V COAD 1 202887482 202887482 + Silent SNP A A G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:202887482A>G c.384T>C c.(382-384)agT>agC p.S128S COADREAD 1 202861788 202861788 + Splice_Site SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:202861788C>A c.e12-1 COADREAD 1 202864766 202864766 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr1:202864766C>T c.1019G>A c.(1018-1020)cGt>cAt p.R340H COADREAD 1 202866003 202866003 + Silent SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:202866003A>C c.918T>G c.(916-918)acT>acG p.T306T COADREAD 1 202880212 202880212 + Frame_Shift_Del DEL G G - TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr1:202880212delG c.687delC c.(685-687)cccfs p.P229fs COADREAD 1 202880233 202880233 + Silent SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr1:202880233C>T c.666G>A c.(664-666)gtG>gtA p.V222V COADREAD 1 202880303 202880303 + Missense_Mutation SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr1:202880303G>A c.596C>T c.(595-597)gCt>gTt p.A199V COADREAD 1 202887482 202887482 + Silent SNP A A G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:202887482A>G c.384T>C c.(382-384)agT>agC p.S128S DLBC 1 202863792 202863792 + Silent SNP G G A TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr1:202863792G>A c.1221C>T c.(1219-1221)agC>agT p.S407S ESCA 1 202887395 202887395 + Silent SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr1:202887395A>G c.471T>C c.(469-471)ttT>ttC p.F157F GBM 1 202862387 202862387 + Frame_Shift_Del DEL C C - TCGA-06-5859-01A-01D-1696-08 TCGA-06-5859-10A-01D-1696-08 g.chr1:202862387delC c.1560delG c.(1558-1560)gggfs p.G520fs GBMLGG 1 202862387 202862387 + Frame_Shift_Del DEL C C - TCGA-06-5859-01A-01D-1696-08 TCGA-06-5859-10A-01D-1696-08 g.chr1:202862387delC c.1560delG c.(1558-1560)gggfs p.G520fs GBMLGG 1 202866077 202866077 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:202866077C>T c.844G>A c.(844-846)Gtg>Atg p.V282M HNSC 1 202861736 202861736 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr1:202861736G>A c.1632C>T c.(1630-1632)atC>atT p.I544I HNSC 1 202863774 202863774 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 g.chr1:202863774C>G c.1239G>C c.(1237-1239)caG>caC p.Q413H HNSC 1 202864773 202864773 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 g.chr1:202864773C>T c.1012G>A c.(1012-1014)Gat>Aat p.D338N HNSC 1 202887471 202887471 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 g.chr1:202887471G>A c.395C>T c.(394-396)cCt>cTt p.P132L HNSC 1 202887508 202887508 + Missense_Mutation SNP G G T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 g.chr1:202887508G>T c.358C>A c.(358-360)Caa>Aaa p.Q120K HNSC 1 202888952 202888953 + Frame_Shift_Ins INS - - TGTG TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 g.chr1:202888952_202888953insTGTG c.279_280insCACA c.(277-282)acagaafs p.E94fs KICH 1 202888918 202888918 + Missense_Mutation SNP T T C TCGA-KN-8424-01A-11D-2310-10 TCGA-KN-8424-11A-01D-2310-10 g.chr1:202888918T>C c.314A>G c.(313-315)gAa>gGa p.E105G KIPAN 1 202866048 202866048 + Silent SNP G G A TCGA-B1-A47M-01A-11D-A25F-10 TCGA-B1-A47M-10A-01D-A25F-10 g.chr1:202866048G>A c.873C>T c.(871-873)agC>agT p.S291S KIPAN 1 202888918 202888918 + Missense_Mutation SNP T T C TCGA-KN-8424-01A-11D-2310-10 TCGA-KN-8424-11A-01D-2310-10 g.chr1:202888918T>C c.314A>G c.(313-315)gAa>gGa p.E105G KIRP 1 202866048 202866048 + Silent SNP G G A TCGA-B1-A47M-01A-11D-A25F-10 TCGA-B1-A47M-10A-01D-A25F-10 g.chr1:202866048G>A c.873C>T c.(871-873)agC>agT p.S291S LAML 1 202863740 202863740 + Missense_Mutation SNP T T G TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 g.chr1:202863740T>G c.1273A>C c.(1273-1275)Agt>Cgt p.S425R LGG 1 202866077 202866077 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:202866077C>T c.844G>A c.(844-846)Gtg>Atg p.V282M LIHC 1 202887515 202887515 + Splice_Site SNP A A G TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr1:202887515A>G c.351T>C c.(349-351)ggT>ggC p.G117G LUAD 1 202863732 202863732 + Silent SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 g.chr1:202863732C>T c.1281G>A c.(1279-1281)gtG>gtA p.V427V LUAD 1 202878154 202878154 + Silent SNP C C T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr1:202878154C>T c.816G>A c.(814-816)agG>agA p.R272R LUAD 1 202880184 202880184 + Missense_Mutation SNP C C G TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr1:202880184C>G c.715G>C c.(715-717)Gag>Cag p.E239Q LUAD 1 202887329 202887329 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr1:202887329C>A c.537G>T c.(535-537)gtG>gtT p.V179V LUAD 1 202888887 202888887 + Missense_Mutation SNP C C A TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr1:202888887C>A c.345G>T c.(343-345)ttG>ttT p.L115F LUSC 1 202888999 202888999 + Missense_Mutation SNP C C G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 g.chr1:202888999C>G c.233G>C c.(232-234)gGt>gCt p.G78A PAAD 1 202864825 202864825 + Silent SNP A A T TCGA-FB-AAQ6-01A-11D-A40W-08 TCGA-FB-AAQ6-11A-11D-A40W-08 g.chr1:202864825A>T c.960T>A c.(958-960)cgT>cgA p.R320R PAAD 1 202878242 202878242 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:202878242C>T c.728G>A c.(727-729)cGc>cAc p.R243H PRAD 1 202861726 202861726 + Missense_Mutation SNP C C T TCGA-HC-7817-01B-11D-A29Q-08 TCGA-HC-7817-10A-01D-A29Q-08 g.chr1:202861726C>T c.1642G>A c.(1642-1644)Gaa>Aaa p.E548K PRAD 1 202861756 202861756 + Missense_Mutation SNP C C T TCGA-HC-7817-01B-11D-A29Q-08 TCGA-HC-7817-10A-01D-A29Q-08 g.chr1:202861756C>T c.1612G>A c.(1612-1614)Gaa>Aaa p.E538K PRAD 1 202863749 202863749 + Missense_Mutation SNP C C T TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 g.chr1:202863749C>T c.1264G>A c.(1264-1266)Gta>Ata p.V422I PRAD 1 202880299 202880299 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:202880299G>A c.600C>T c.(598-600)gtC>gtT p.V200V READ 1 202880212 202880212 + Frame_Shift_Del DEL G G - TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr1:202880212delG c.687delC c.(685-687)cccfs p.P229fs SKCM 1 202861744 202861744 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:202861744G>A c.1624C>T c.(1624-1626)Cct>Tct p.P542S SKCM 1 202861773 202861773 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:202861773G>A c.1595C>T c.(1594-1596)tCc>tTc p.S532F SKCM 1 202862461 202862461 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr1:202862461G>A c.1486C>T c.(1486-1488)Cgc>Tgc p.R496C SKCM 1 202862510 202862510 + Silent SNP C C A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr1:202862510C>A c.1437G>T c.(1435-1437)ggG>ggT p.G479G SKCM 1 202862512 202862512 + Missense_Mutation SNP C C A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr1:202862512C>A c.1435G>T c.(1435-1437)Ggg>Tgg p.G479W SKCM 1 202864694 202864694 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr1:202864694G>A c.1091C>T c.(1090-1092)cCt>cTt p.P364L SKCM 1 202864777 202864777 + Silent SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:202864777G>A c.1008C>T c.(1006-1008)ggC>ggT p.G336G SKCM 1 202888910 202888910 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr1:202888910G>A c.322C>T c.(322-324)Cct>Tct p.P108S

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 1 202863791 202863791 single base substitution T C missense_variant M141V 421A>G BLCA-CN 1 202863791 202863791 single base substitution T C missense_variant M408V 1222A>G BLCA-CN 1 202863791 202863791 single base substitution T C missense_variant M446V 1336A>G BLCA-US 1 202880190 202880190 single base substitution C G missense_variant D237H 709G>C BLCA-US 1 202880190 202880190 single base substitution C G missense_variant D275H 823G>C BLCA-US 1 202880190 202880190 single base substitution C G upstream_gene_variant BLCA-US 1 202880307 202880307 single base substitution C G missense_variant E198Q 592G>C BLCA-US 1 202880307 202880307 single base substitution C G missense_variant E236Q 706G>C BLCA-US 1 202880307 202880307 single base substitution C G upstream_gene_variant BRCA-EU 1 202855302 202855302 single base substitution G C downstream_gene_variant BRCA-EU 1 202856390 202856390 single base substitution C G downstream_gene_variant BRCA-EU 1 202856399 202856399 single base substitution G A downstream_gene_variant BRCA-EU 1 202856486 202856486 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 202857040 202857043 deletion of <=200bp AATT - downstream_gene_variant BRCA-EU 1 202857581 202857581 single base substitution C G downstream_gene_variant BRCA-EU 1 202857969 202857969 single base substitution G A downstream_gene_variant BRCA-EU 1 202858816 202858816 single base substitution G A downstream_gene_variant BRCA-EU 1 202859482 202859482 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 202859584 202859584 single base substitution G A downstream_gene_variant BRCA-EU 1 202860020 202860020 single base substitution G A downstream_gene_variant BRCA-EU 1 202862503 202862503 single base substitution C A intron_variant BRCA-EU 1 202862503 202862503 single base substitution C A missense_variant D482Y 1444G>T BRCA-EU 1 202862503 202862503 single base substitution C A missense_variant D520Y 1558G>T BRCA-EU 1 202862923 202862923 single base substitution A G intron_variant BRCA-EU 1 202863799 202863799 single base substitution T C missense_variant Q138R 413A>G BRCA-EU 1 202863799 202863799 single base substitution T C missense_variant Q405R 1214A>G BRCA-EU 1 202863799 202863799 single base substitution T C missense_variant Q443R 1328A>G BRCA-EU 1 202864274 202864274 single base substitution C A intron_variant BRCA-EU 1 202866150 202866150 single base substitution C T intron_variant BRCA-EU 1 202868225 202868225 single base substitution G A intron_variant BRCA-EU 1 202869978 202869978 single base substitution C A intron_variant BRCA-EU 1 202871829 202871829 single base substitution T A intron_variant BRCA-EU 1 202872744 202872744 single base substitution A T intron_variant BRCA-EU 1 202873365 202873365 single base substitution C G downstream_gene_variant BRCA-EU 1 202873365 202873365 single base substitution C G intron_variant BRCA-EU 1 202875820 202875820 single base substitution C T downstream_gene_variant BRCA-EU 1 202875820 202875820 single base substitution C T intron_variant BRCA-EU 1 202876967 202876967 single base substitution C T downstream_gene_variant BRCA-EU 1 202876967 202876967 single base substitution C T intron_variant BRCA-EU 1 202877073 202877073 single base substitution T A downstream_gene_variant BRCA-EU 1 202877073 202877073 single base substitution T A intron_variant BRCA-EU 1 202877134 202877134 single base substitution G C downstream_gene_variant BRCA-EU 1 202877134 202877134 single base substitution G C intron_variant BRCA-EU 1 202877493 202877493 single base substitution G C downstream_gene_variant BRCA-EU 1 202877493 202877493 single base substitution G C intron_variant BRCA-EU 1 202878049 202878049 single base substitution C G downstream_gene_variant BRCA-EU 1 202878049 202878049 single base substitution C G intron_variant BRCA-EU 1 202878058 202878058 single base substitution G C downstream_gene_variant BRCA-EU 1 202878058 202878058 single base substitution G C intron_variant BRCA-EU 1 202879701 202879701 single base substitution G A intron_variant BRCA-EU 1 202879701 202879701 single base substitution G A upstream_gene_variant BRCA-EU 1 202880653 202880653 single base substitution G A intron_variant BRCA-EU 1 202880653 202880653 single base substitution G A upstream_gene_variant BRCA-EU 1 202881498 202881498 single base substitution T C intron_variant BRCA-EU 1 202881498 202881498 single base substitution T C upstream_gene_variant BRCA-EU 1 202882508 202882508 deletion of <=200bp A - intron_variant BRCA-EU 1 202882508 202882508 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 202884602 202884602 insertion of <=200bp - A intron_variant BRCA-EU 1 202885022 202885022 single base substitution G C intron_variant BRCA-EU 1 202886123 202886123 single base substitution G C intron_variant BRCA-EU 1 202886682 202886682 single base substitution C T intron_variant BRCA-EU 1 202886839 202886874 deletion of <=200bp TGATCCTCTTTATAACATTTTTTTTGTCTATATCTC - intron_variant BRCA-EU 1 202887375 202887375 single base substitution T A missense_variant E164V 491A>T BRCA-EU 1 202887375 202887375 single base substitution T A missense_variant E202V 605A>T BRCA-EU 1 202887376 202887376 single base substitution C A stop_gained E164* 490G>T BRCA-EU 1 202887376 202887376 single base substitution C A stop_gained E202* 604G>T BRCA-EU 1 202888753 202888753 single base substitution A T intron_variant BRCA-EU 1 202890167 202890167 single base substitution C G intron_variant BRCA-EU 1 202890284 202890284 single base substitution G A intron_variant BRCA-EU 1 202890772 202890772 single base substitution C G intron_variant BRCA-EU 1 202891230 202891230 single base substitution C T intron_variant BRCA-EU 1 202891872 202891872 single base substitution C A intron_variant BRCA-EU 1 202893782 202893782 single base substitution G C intron_variant BRCA-EU 1 202893808 202893808 single base substitution T C intron_variant BRCA-EU 1 202894014 202894014 single base substitution A C intron_variant BRCA-EU 1 202895449 202895449 single base substitution C T intron_variant BRCA-EU 1 202899285 202899285 single base substitution A T upstream_gene_variant BRCA-EU 1 202900159 202900159 single base substitution A C upstream_gene_variant BRCA-EU 1 202901413 202901413 single base substitution T A upstream_gene_variant BRCA-EU 1 202902334 202902334 single base substitution T G upstream_gene_variant BRCA-EU 1 202902442 202902442 single base substitution G A upstream_gene_variant BRCA-EU 1 202902527 202902527 deletion of <=200bp T - upstream_gene_variant BRCA-FR 1 202855302 202855302 single base substitution G C downstream_gene_variant BRCA-FR 1 202871829 202871829 single base substitution T A intron_variant BRCA-FR 1 202873365 202873365 single base substitution C G downstream_gene_variant BRCA-FR 1 202873365 202873365 single base substitution C G intron_variant BRCA-FR 1 202877493 202877493 single base substitution G C downstream_gene_variant BRCA-FR 1 202877493 202877493 single base substitution G C intron_variant BRCA-FR 1 202882201 202882201 single base substitution C A intron_variant BRCA-FR 1 202882201 202882201 single base substitution C A upstream_gene_variant BRCA-FR 1 202883981 202883981 single base substitution G A intron_variant BRCA-FR 1 202885384 202885384 single base substitution C A intron_variant BRCA-FR 1 202887375 202887375 single base substitution T A missense_variant E164V 491A>T BRCA-FR 1 202887375 202887375 single base substitution T A missense_variant E202V 605A>T BRCA-FR 1 202887376 202887376 single base substitution C A stop_gained E164* 490G>T BRCA-FR 1 202887376 202887376 single base substitution C A stop_gained E202* 604G>T BRCA-FR 1 202889795 202889795 single base substitution C T intron_variant BRCA-FR 1 202891230 202891230 single base substitution C T intron_variant BRCA-FR 1 202893782 202893782 single base substitution G C intron_variant BRCA-FR 1 202894014 202894014 single base substitution A C intron_variant BRCA-UK 1 202861718 202861718 single base substitution C G 3_prime_UTR_variant BRCA-UK 1 202861718 202861718 single base substitution C G synonymous_variant V550V 1650G>C BRCA-UK 1 202861718 202861718 single base substitution C G synonymous_variant V588V 1764G>C BRCA-UK 1 202878213 202878213 single base substitution C G 5_prime_UTR_variant BRCA-UK 1 202878213 202878213 single base substitution C G missense_variant D253H 757G>C BRCA-UK 1 202878213 202878213 single base substitution C G missense_variant D291H 871G>C BRCA-UK 1 202888952 202888952 single base substitution C T missense_variant E132K 394G>A BRCA-UK 1 202888952 202888952 single base substitution C T missense_variant E94K 280G>A BRCA-UK 1 202890167 202890167 single base substitution C G intron_variant BRCA-UK 1 202896330 202896330 single base substitution G A 5_prime_UTR_variant BRCA-UK 1 202896330 202896330 single base substitution G A intron_variant BRCA-US 1 202862414 202862414 single base substitution G C intron_variant BRCA-US 1 202862414 202862414 single base substitution G C missense_variant C511W 1533C>G BRCA-US 1 202862414 202862414 single base substitution G C missense_variant C549W 1647C>G BRCA-US 1 202862535 202862535 single base substitution A G intron_variant BRCA-US 1 202862535 202862535 single base substitution A G missense_variant L471P 1412T>C BRCA-US 1 202862535 202862535 single base substitution A G missense_variant L509P 1526T>C BRCA-US 1 202878177 202878177 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 1 202878177 202878177 single base substitution G A missense_variant R265W 793C>T BRCA-US 1 202878177 202878177 single base substitution G A missense_variant R303W 907C>T BRCA-US 1 202894213 202894213 single base substitution G C synonymous_variant L26L 78C>G BRCA-US 1 202894213 202894213 single base substitution G C synonymous_variant L64L 192C>G BTCA-JP 1 202894347 202894347 deletion of <=200bp A - intron_variant CESC-US 1 202858203 202858203 single base substitution G A downstream_gene_variant CESC-US 1 202880319 202880319 single base substitution C G missense_variant E194Q 580G>C CESC-US 1 202880319 202880319 single base substitution C G missense_variant E232Q 694G>C CESC-US 1 202880319 202880319 single base substitution C G upstream_gene_variant CESC-US 1 202897624 202897624 single base substitution G T missense_variant F18L 54C>A CESC-US 1 202897624 202897624 single base substitution G T upstream_gene_variant CLLE-ES 1 202870587 202870587 single base substitution T C intron_variant CLLE-ES 1 202870604 202870604 single base substitution A T intron_variant CLLE-ES 1 202880133 202880133 single base substitution G A intron_variant CLLE-ES 1 202880133 202880133 single base substitution G A upstream_gene_variant CLLE-ES 1 202885472 202885472 single base substitution G A intron_variant CLLE-ES 1 202887005 202887005 single base substitution A G intron_variant CLLE-ES 1 202887634 202887634 insertion of <=200bp - CTA intron_variant CLLE-ES 1 202897993 202897993 single base substitution T G upstream_gene_variant COAD-US 1 202861788 202861788 single base substitution C A splice_acceptor_variant COAD-US 1 202864766 202864766 single base substitution C T missense_variant R340H 1019G>A COAD-US 1 202864766 202864766 single base substitution C T missense_variant R378H 1133G>A COAD-US 1 202864766 202864766 single base substitution C T missense_variant R73H 218G>A COAD-US 1 202866003 202866003 single base substitution A C synonymous_variant T306T 918T>G COAD-US 1 202866003 202866003 single base substitution A C synonymous_variant T344T 1032T>G COAD-US 1 202866003 202866003 single base substitution A C synonymous_variant T39T 117T>G COAD-US 1 202880233 202880233 single base substitution C T synonymous_variant V222V 666G>A COAD-US 1 202880233 202880233 single base substitution C T synonymous_variant V260V 780G>A COAD-US 1 202880233 202880233 single base substitution C T upstream_gene_variant COAD-US 1 202887482 202887482 single base substitution A G synonymous_variant S128S 384T>C COAD-US 1 202887482 202887482 single base substitution A G synonymous_variant S166S 498T>C COCA-CN 1 202863838 202863838 single base substitution C T missense_variant R125H 374G>A COCA-CN 1 202863838 202863838 single base substitution C T missense_variant R392H 1175G>A COCA-CN 1 202863838 202863838 single base substitution C T missense_variant R430H 1289G>A COCA-CN 1 202887649 202887649 single base substitution G T intron_variant COCA-CN 1 202894197 202894197 single base substitution G T missense_variant L32I 94C>A COCA-CN 1 202894197 202894197 single base substitution G T missense_variant L70I 208C>A EOPC-DE 1 202872037 202872037 single base substitution G C intron_variant EOPC-DE 1 202879661 202879661 single base substitution T C intron_variant EOPC-DE 1 202879661 202879661 single base substitution T C upstream_gene_variant ESAD-UK 1 202856514 202856537 deletion of <=200bp AGTGTATTTTGTGTGGCCCAAGAC - downstream_gene_variant ESAD-UK 1 202858100 202858100 single base substitution C T downstream_gene_variant ESAD-UK 1 202861986 202861986 single base substitution C G intron_variant ESAD-UK 1 202863353 202863353 single base substitution C A missense_variant G184V 551G>T ESAD-UK 1 202863353 202863353 single base substitution C A missense_variant G451V 1352G>T ESAD-UK 1 202863353 202863353 single base substitution C A missense_variant G489V 1466G>T ESAD-UK 1 202864023 202864023 single base substitution G C intron_variant ESAD-UK 1 202864534 202864534 single base substitution C T intron_variant ESAD-UK 1 202865606 202865606 single base substitution A G intron_variant ESAD-UK 1 202870362 202870362 single base substitution G A intron_variant ESAD-UK 1 202870413 202870413 single base substitution A C intron_variant ESAD-UK 1 202874275 202874275 single base substitution A G downstream_gene_variant ESAD-UK 1 202874275 202874275 single base substitution A G intron_variant ESAD-UK 1 202875420 202875420 single base substitution A C downstream_gene_variant ESAD-UK 1 202875420 202875420 single base substitution A C intron_variant ESAD-UK 1 202880546 202880546 insertion of <=200bp - T intron_variant ESAD-UK 1 202880546 202880546 insertion of <=200bp - T upstream_gene_variant ESAD-UK 1 202882072 202882072 single base substitution T C intron_variant ESAD-UK 1 202882072 202882072 single base substitution T C upstream_gene_variant ESAD-UK 1 202883764 202883764 single base substitution G A intron_variant ESAD-UK 1 202885533 202885533 single base substitution G A intron_variant ESAD-UK 1 202890139 202890139 deletion of <=200bp T - intron_variant ESAD-UK 1 202890836 202890836 insertion of <=200bp - A intron_variant ESAD-UK 1 202893044 202893044 single base substitution G C intron_variant ESAD-UK 1 202894078 202894078 single base substitution G A intron_variant ESAD-UK 1 202896271 202896271 single base substitution G A 5_prime_UTR_variant ESAD-UK 1 202896271 202896271 single base substitution G A intron_variant ESAD-UK 1 202898074 202898074 single base substitution C T upstream_gene_variant ESAD-UK 1 202898348 202898348 single base substitution T A upstream_gene_variant ESAD-UK 1 202898355 202898355 single base substitution C G upstream_gene_variant ESAD-UK 1 202898825 202898825 single base substitution T C upstream_gene_variant ESAD-UK 1 202899808 202899808 single base substitution C T upstream_gene_variant ESAD-UK 1 202900193 202900193 deletion of <=200bp T - upstream_gene_variant ESAD-UK 1 202901049 202901049 single base substitution G T upstream_gene_variant ESAD-UK 1 202901782 202901782 single base substitution T A upstream_gene_variant ESAD-UK 1 202902395 202902395 deletion of <=200bp T - upstream_gene_variant ESCA-CN 1 202862503 202862503 single base substitution C T intron_variant ESCA-CN 1 202862503 202862503 single base substitution C T missense_variant D482N 1444G>A ESCA-CN 1 202862503 202862503 single base substitution C T missense_variant D520N 1558G>A GBM-US 1 202862387 202862387 deletion of <=200bp C - frameshift_variant G520 GBM-US 1 202862387 202862387 deletion of <=200bp C - frameshift_variant G558 GBM-US 1 202862387 202862387 deletion of <=200bp C - intron_variant KIRP-US 1 202866048 202866048 single base substitution G A synonymous_variant S24S 72C>T KIRP-US 1 202866048 202866048 single base substitution G A synonymous_variant S291S 873C>T KIRP-US 1 202866048 202866048 single base substitution G A synonymous_variant S329S 987C>T LAML-KR 1 202857703 202857703 single base substitution G C downstream_gene_variant LAML-KR 1 202872599 202872599 single base substitution C T intron_variant LAML-KR 1 202878299 202878299 single base substitution T C intron_variant LAML-KR 1 202878299 202878299 single base substitution T C upstream_gene_variant LAML-KR 1 202897135 202897135 single base substitution A T intron_variant LAML-KR 1 202897135 202897135 single base substitution A T upstream_gene_variant LICA-CN 1 202887457 202887457 single base substitution C A missense_variant G137C 409G>T LICA-CN 1 202887457 202887457 single base substitution C A missense_variant G175C 523G>T LICA-FR 1 202863366 202863366 single base substitution C T missense_variant D180N 538G>A LICA-FR 1 202863366 202863366 single base substitution C T missense_variant D447N 1339G>A LICA-FR 1 202863366 202863366 single base substitution C T missense_variant D485N 1453G>A LICA-FR 1 202897951 202897951 single base substitution C T upstream_gene_variant LICA-FR 1 202899134 202899134 single base substitution A G upstream_gene_variant LIHC-US 1 202858125 202858125 single base substitution C G downstream_gene_variant LINC-JP 1 202863593 202863593 single base substitution T C intron_variant LINC-JP 1 202866148 202866148 single base substitution C A intron_variant LINC-JP 1 202872769 202872769 single base substitution G T intron_variant LINC-JP 1 202878332 202878332 single base substitution T C intron_variant LINC-JP 1 202878332 202878332 single base substitution T C upstream_gene_variant LINC-JP 1 202885757 202885757 single base substitution T C intron_variant LINC-JP 1 202896647 202896647 single base substitution C A intron_variant LINC-JP 1 202896647 202896647 single base substitution C A upstream_gene_variant LIRI-JP 1 202856518 202856518 single base substitution T C downstream_gene_variant LIRI-JP 1 202856757 202856757 single base substitution C T downstream_gene_variant LIRI-JP 1 202857403 202857403 single base substitution T G downstream_gene_variant LIRI-JP 1 202858760 202858760 single base substitution G A downstream_gene_variant LIRI-JP 1 202867576 202867576 single base substitution G C intron_variant LIRI-JP 1 202869141 202869141 single base substitution T A intron_variant LIRI-JP 1 202869601 202869601 single base substitution C A intron_variant LIRI-JP 1 202870995 202870995 single base substitution C A intron_variant LIRI-JP 1 202871899 202871899 single base substitution C T intron_variant LIRI-JP 1 202873239 202873239 single base substitution C T downstream_gene_variant LIRI-JP 1 202873239 202873239 single base substitution C T intron_variant LIRI-JP 1 202873616 202873616 single base substitution G A downstream_gene_variant LIRI-JP 1 202873616 202873616 single base substitution G A intron_variant LIRI-JP 1 202873974 202873974 single base substitution C A downstream_gene_variant LIRI-JP 1 202873974 202873974 single base substitution C A intron_variant LIRI-JP 1 202874233 202874233 single base substitution T G downstream_gene_variant LIRI-JP 1 202874233 202874233 single base substitution T G intron_variant LIRI-JP 1 202875368 202875368 single base substitution G A downstream_gene_variant LIRI-JP 1 202875368 202875368 single base substitution G A intron_variant LIRI-JP 1 202875841 202875841 single base substitution G A downstream_gene_variant LIRI-JP 1 202875841 202875841 single base substitution G A intron_variant LIRI-JP 1 202880688 202880688 single base substitution G T intron_variant LIRI-JP 1 202880688 202880688 single base substitution G T upstream_gene_variant LIRI-JP 1 202880768 202880768 single base substitution C A intron_variant LIRI-JP 1 202880768 202880768 single base substitution C A upstream_gene_variant LIRI-JP 1 202881021 202881021 single base substitution G A intron_variant LIRI-JP 1 202881021 202881021 single base substitution G A upstream_gene_variant LIRI-JP 1 202883586 202883586 single base substitution T C intron_variant LIRI-JP 1 202885608 202885608 single base substitution G A intron_variant LIRI-JP 1 202886006 202886006 single base substitution G C intron_variant LIRI-JP 1 202887194 202887194 single base substitution T C intron_variant LIRI-JP 1 202888506 202888506 single base substitution C A intron_variant LIRI-JP 1 202888532 202888532 single base substitution G C intron_variant LIRI-JP 1 202895417 202895417 single base substitution A C intron_variant LIRI-JP 1 202895839 202895839 single base substitution T C intron_variant LIRI-JP 1 202898383 202898383 single base substitution G A upstream_gene_variant LIRI-JP 1 202901777 202901777 single base substitution T A upstream_gene_variant LUSC-KR 1 202855969 202855969 single base substitution C T downstream_gene_variant LUSC-KR 1 202864413 202864413 single base substitution C G intron_variant LUSC-KR 1 202873212 202873212 single base substitution T C downstream_gene_variant LUSC-KR 1 202873212 202873212 single base substitution T C intron_variant LUSC-KR 1 202875223 202875223 single base substitution G A downstream_gene_variant LUSC-KR 1 202875223 202875223 single base substitution G A intron_variant LUSC-KR 1 202879399 202879399 single base substitution G A intron_variant LUSC-KR 1 202879399 202879399 single base substitution G A upstream_gene_variant LUSC-KR 1 202880561 202880561 single base substitution C T intron_variant LUSC-KR 1 202880561 202880561 single base substitution C T upstream_gene_variant LUSC-KR 1 202881091 202881091 single base substitution A C intron_variant LUSC-KR 1 202881091 202881091 single base substitution A C upstream_gene_variant LUSC-KR 1 202891688 202891688 single base substitution C A intron_variant LUSC-US 1 202888999 202888999 single base substitution C G missense_variant G116A 347G>C LUSC-US 1 202888999 202888999 single base substitution C G missense_variant G78A 233G>C MALY-DE 1 202856923 202856923 single base substitution C T downstream_gene_variant MALY-DE 1 202857934 202857934 single base substitution G T downstream_gene_variant MALY-DE 1 202858233 202858233 single base substitution T A downstream_gene_variant MALY-DE 1 202864588 202864588 single base substitution G A intron_variant MALY-DE 1 202870938 202870938 single base substitution T A intron_variant MALY-DE 1 202871166 202871166 single base substitution A T intron_variant MALY-DE 1 202872316 202872316 single base substitution A T intron_variant MALY-DE 1 202872458 202872458 single base substitution A C intron_variant MALY-DE 1 202883673 202883673 single base substitution G C intron_variant MALY-DE 1 202899673 202899673 single base substitution G A upstream_gene_variant MALY-DE 1 202901076 202901076 single base substitution A C upstream_gene_variant MALY-DE 1 202901251 202901251 single base substitution C T upstream_gene_variant MELA-AU 1 202856449 202856449 single base substitution T G downstream_gene_variant MELA-AU 1 202858012 202858012 single base substitution G A downstream_gene_variant MELA-AU 1 202859066 202859066 single base substitution C T downstream_gene_variant MELA-AU 1 202859388 202859388 single base substitution C T downstream_gene_variant MELA-AU 1 202860292 202860292 single base substitution G A 3_prime_UTR_variant MELA-AU 1 202860292 202860292 single base substitution G A downstream_gene_variant MELA-AU 1 202860415 202860415 single base substitution A T 3_prime_UTR_variant MELA-AU 1 202860415 202860415 single base substitution A T downstream_gene_variant MELA-AU 1 202861160 202861160 single base substitution G A 3_prime_UTR_variant MELA-AU 1 202861160 202861160 single base substitution G A downstream_gene_variant MELA-AU 1 202861420 202861420 single base substitution G A 3_prime_UTR_variant MELA-AU 1 202861420 202861420 single base substitution G A downstream_gene_variant MELA-AU 1 202861593 202861593 single base substitution G A 3_prime_UTR_variant MELA-AU 1 202861900 202861900 single base substitution G A intron_variant MELA-AU 1 202861986 202861986 single base substitution C T intron_variant MELA-AU 1 202862302 202862302 single base substitution G A intron_variant MELA-AU 1 202862480 202862480 single base substitution G A intron_variant MELA-AU 1 202862480 202862480 single base substitution G A synonymous_variant S489S 1467C>T MELA-AU 1 202862480 202862480 single base substitution G A synonymous_variant S527S 1581C>T MELA-AU 1 202862597 202862597 single base substitution A G intron_variant MELA-AU 1 202863357 202863357 single base substitution T A missense_variant T183S 547A>T MELA-AU 1 202863357 202863357 single base substitution T A missense_variant T450S 1348A>T MELA-AU 1 202863357 202863357 single base substitution T A missense_variant T488S 1462A>T MELA-AU 1 202864029 202864029 single base substitution G A intron_variant MELA-AU 1 202865019 202865019 single base substitution G A intron_variant MELA-AU 1 202865638 202865638 single base substitution G A intron_variant MELA-AU 1 202865922 202865922 single base substitution G A intron_variant MELA-AU 1 202866114 202866114 single base substitution G A intron_variant MELA-AU 1 202866173 202866173 single base substitution T C intron_variant MELA-AU 1 202867780 202867780 single base substitution A G intron_variant MELA-AU 1 202867793 202867793 single base substitution G A intron_variant MELA-AU 1 202867801 202867801 single base substitution G A intron_variant MELA-AU 1 202867827 202867827 single base substitution C T intron_variant MELA-AU 1 202867871 202867871 single base substitution G A intron_variant MELA-AU 1 202869575 202869575 single base substitution G A intron_variant MELA-AU 1 202870389 202870389 single base substitution G A intron_variant MELA-AU 1 202871278 202871278 single base substitution G A intron_variant MELA-AU 1 202873956 202873956 single base substitution G C downstream_gene_variant MELA-AU 1 202873956 202873956 single base substitution G C intron_variant MELA-AU 1 202874163 202874163 single base substitution G A downstream_gene_variant MELA-AU 1 202874163 202874163 single base substitution G A intron_variant MELA-AU 1 202874209 202874209 single base substitution G A downstream_gene_variant MELA-AU 1 202874209 202874209 single base substitution G A intron_variant MELA-AU 1 202874513 202874513 single base substitution G A downstream_gene_variant MELA-AU 1 202874513 202874513 single base substitution G A intron_variant MELA-AU 1 202875379 202875379 single base substitution G A downstream_gene_variant MELA-AU 1 202875379 202875379 single base substitution G A intron_variant MELA-AU 1 202875381 202875381 single base substitution G A downstream_gene_variant MELA-AU 1 202875381 202875381 single base substitution G A intron_variant MELA-AU 1 202877441 202877441 single base substitution G A downstream_gene_variant MELA-AU 1 202877441 202877441 single base substitution G A intron_variant MELA-AU 1 202877657 202877657 single base substitution T C downstream_gene_variant MELA-AU 1 202877657 202877657 single base substitution T C intron_variant MELA-AU 1 202878565 202878565 single base substitution G A intron_variant MELA-AU 1 202878565 202878565 single base substitution G A upstream_gene_variant MELA-AU 1 202878668 202878668 single base substitution G A intron_variant MELA-AU 1 202878668 202878668 single base substitution G A upstream_gene_variant MELA-AU 1 202878858 202878858 single base substitution G A intron_variant MELA-AU 1 202878858 202878858 single base substitution G A upstream_gene_variant MELA-AU 1 202880085 202880085 single base substitution G A intron_variant MELA-AU 1 202880085 202880085 single base substitution G A upstream_gene_variant MELA-AU 1 202880547 202880547 single base substitution A T intron_variant MELA-AU 1 202880547 202880547 single base substitution A T upstream_gene_variant MELA-AU 1 202880659 202880659 single base substitution G A intron_variant MELA-AU 1 202880659 202880659 single base substitution G A upstream_gene_variant MELA-AU 1 202880902 202880902 single base substitution G A intron_variant MELA-AU 1 202880902 202880902 single base substitution G A upstream_gene_variant MELA-AU 1 202881166 202881166 single base substitution G A intron_variant MELA-AU 1 202881166 202881166 single base substitution G A upstream_gene_variant MELA-AU 1 202881335 202881335 single base substitution G A intron_variant MELA-AU 1 202881335 202881335 single base substitution G A upstream_gene_variant MELA-AU 1 202881451 202881451 single base substitution G A intron_variant MELA-AU 1 202881451 202881451 single base substitution G A upstream_gene_variant MELA-AU 1 202882172 202882172 single base substitution G A intron_variant MELA-AU 1 202882172 202882172 single base substitution G A upstream_gene_variant MELA-AU 1 202882375 202882375 single base substitution G A intron_variant MELA-AU 1 202882375 202882375 single base substitution G A upstream_gene_variant MELA-AU 1 202882428 202882428 single base substitution G A intron_variant MELA-AU 1 202882428 202882428 single base substitution G A upstream_gene_variant MELA-AU 1 202882650 202882650 single base substitution G C intron_variant MELA-AU 1 202882650 202882650 single base substitution G C upstream_gene_variant MELA-AU 1 202882784 202882784 single base substitution G T intron_variant MELA-AU 1 202882784 202882784 single base substitution G T upstream_gene_variant MELA-AU 1 202882830 202882830 single base substitution G A intron_variant MELA-AU 1 202882830 202882830 single base substitution G A upstream_gene_variant MELA-AU 1 202883886 202883886 single base substitution G A intron_variant MELA-AU 1 202884531 202884531 single base substitution G A intron_variant MELA-AU 1 202884871 202884871 single base substitution G A intron_variant MELA-AU 1 202885596 202885596 single base substitution A G intron_variant MELA-AU 1 202885624 202885624 single base substitution T C intron_variant MELA-AU 1 202885666 202885666 single base substitution G A intron_variant MELA-AU 1 202886096 202886096 single base substitution C T intron_variant MELA-AU 1 202886295 202886295 single base substitution G A intron_variant MELA-AU 1 202887996 202887996 single base substitution G A intron_variant MELA-AU 1 202888203 202888203 single base substitution A G intron_variant MELA-AU 1 202888516 202888516 single base substitution G A intron_variant MELA-AU 1 202889747 202889747 single base substitution G A intron_variant MELA-AU 1 202889773 202889773 single base substitution G A intron_variant MELA-AU 1 202889898 202889899 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 202890188 202890188 single base substitution G A intron_variant MELA-AU 1 202890572 202890572 single base substitution G A intron_variant MELA-AU 1 202890626 202890626 single base substitution G A intron_variant MELA-AU 1 202891259 202891259 single base substitution C T intron_variant MELA-AU 1 202891663 202891663 single base substitution G A intron_variant MELA-AU 1 202892370 202892370 single base substitution A T intron_variant MELA-AU 1 202892928 202892928 single base substitution G A intron_variant MELA-AU 1 202892976 202892976 single base substitution G A intron_variant MELA-AU 1 202892999 202892999 single base substitution C A intron_variant MELA-AU 1 202893002 202893002 single base substitution A C intron_variant MELA-AU 1 202893031 202893031 single base substitution G A intron_variant MELA-AU 1 202893352 202893352 single base substitution T A intron_variant MELA-AU 1 202894307 202894308 multiple base substitution (>=2bp and <=200bp) AG TA 5_prime_UTR_variant MELA-AU 1 202894307 202894308 multiple base substitution (>=2bp and <=200bp) AG TA missense_variant L33Y 97CT>TA MELA-AU 1 202894961 202894961 single base substitution C T intron_variant MELA-AU 1 202895884 202895884 single base substitution G A intron_variant MELA-AU 1 202896038 202896038 single base substitution G A intron_variant MELA-AU 1 202896300 202896300 single base substitution C T 5_prime_UTR_variant MELA-AU 1 202896300 202896300 single base substitution C T intron_variant MELA-AU 1 202896416 202896416 single base substitution C T intron_variant MELA-AU 1 202896416 202896416 single base substitution C T upstream_gene_variant MELA-AU 1 202896427 202896427 single base substitution G A intron_variant MELA-AU 1 202896427 202896427 single base substitution G A upstream_gene_variant MELA-AU 1 202896463 202896463 single base substitution C T intron_variant MELA-AU 1 202896463 202896463 single base substitution C T upstream_gene_variant MELA-AU 1 202896676 202896676 single base substitution C T intron_variant MELA-AU 1 202896676 202896676 single base substitution C T upstream_gene_variant MELA-AU 1 202897043 202897043 single base substitution G A intron_variant MELA-AU 1 202897043 202897043 single base substitution G A upstream_gene_variant MELA-AU 1 202897179 202897179 single base substitution G A intron_variant MELA-AU 1 202897179 202897179 single base substitution G A upstream_gene_variant MELA-AU 1 202897513 202897513 single base substitution G A intron_variant MELA-AU 1 202897513 202897513 single base substitution G A upstream_gene_variant MELA-AU 1 202897526 202897526 single base substitution C T intron_variant MELA-AU 1 202897526 202897526 single base substitution C T upstream_gene_variant MELA-AU 1 202898000 202898000 single base substitution G A upstream_gene_variant MELA-AU 1 202898038 202898038 single base substitution A G upstream_gene_variant MELA-AU 1 202898048 202898048 single base substitution C T upstream_gene_variant MELA-AU 1 202898424 202898424 single base substitution T C upstream_gene_variant MELA-AU 1 202898757 202898757 single base substitution A T upstream_gene_variant MELA-AU 1 202898810 202898810 single base substitution G A upstream_gene_variant MELA-AU 1 202899039 202899039 single base substitution G A upstream_gene_variant MELA-AU 1 202899140 202899140 single base substitution G A upstream_gene_variant MELA-AU 1 202899263 202899263 single base substitution G A upstream_gene_variant MELA-AU 1 202899290 202899290 single base substitution A T upstream_gene_variant MELA-AU 1 202899318 202899318 single base substitution T C upstream_gene_variant MELA-AU 1 202899320 202899320 single base substitution C T upstream_gene_variant MELA-AU 1 202899385 202899385 single base substitution G A upstream_gene_variant MELA-AU 1 202899605 202899605 single base substitution G A upstream_gene_variant MELA-AU 1 202899801 202899801 single base substitution C T upstream_gene_variant MELA-AU 1 202899820 202899820 single base substitution C T upstream_gene_variant MELA-AU 1 202899836 202899836 single base substitution C T upstream_gene_variant MELA-AU 1 202899890 202899890 single base substitution T C upstream_gene_variant MELA-AU 1 202900053 202900053 single base substitution G A upstream_gene_variant MELA-AU 1 202900856 202900856 single base substitution G A upstream_gene_variant MELA-AU 1 202900931 202900931 single base substitution G A upstream_gene_variant MELA-AU 1 202900960 202900960 single base substitution C T upstream_gene_variant MELA-AU 1 202901325 202901325 single base substitution C T upstream_gene_variant MELA-AU 1 202901380 202901380 single base substitution A T upstream_gene_variant MELA-AU 1 202901659 202901659 single base substitution G A upstream_gene_variant MELA-AU 1 202901714 202901714 single base substitution C T upstream_gene_variant MELA-AU 1 202901892 202901892 single base substitution C T upstream_gene_variant MELA-AU 1 202901986 202901986 single base substitution C T upstream_gene_variant MELA-AU 1 202901997 202901997 single base substitution G A upstream_gene_variant MELA-AU 1 202902114 202902114 single base substitution C T upstream_gene_variant MELA-AU 1 202902262 202902263 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 202902355 202902355 single base substitution T G upstream_gene_variant MELA-AU 1 202902479 202902479 single base substitution C T upstream_gene_variant MELA-AU 1 202902716 202902716 single base substitution C T upstream_gene_variant ORCA-IN 1 202869139 202869139 single base substitution C T intron_variant ORCA-IN 1 202869481 202869481 single base substitution G C intron_variant OV-AU 1 202858083 202858094 deletion of <=200bp TCCAACCTGCCT - downstream_gene_variant OV-AU 1 202860383 202860383 single base substitution T A 3_prime_UTR_variant OV-AU 1 202860383 202860383 single base substitution T A downstream_gene_variant OV-AU 1 202862004 202862004 single base substitution C G intron_variant OV-AU 1 202864581 202864581 single base substitution C T intron_variant OV-AU 1 202881297 202881297 single base substitution C G intron_variant OV-AU 1 202881297 202881297 single base substitution C G upstream_gene_variant OV-AU 1 202885903 202885903 single base substitution T G intron_variant OV-AU 1 202891483 202891483 single base substitution C G intron_variant OV-AU 1 202895247 202895247 single base substitution A G intron_variant OV-AU 1 202895473 202895473 single base substitution C T intron_variant OV-AU 1 202897733 202897733 single base substitution T C 5_prime_UTR_variant OV-AU 1 202897733 202897733 single base substitution T C upstream_gene_variant OV-AU 1 202897816 202897816 single base substitution T C upstream_gene_variant OV-AU 1 202900669 202900669 single base substitution T G upstream_gene_variant PACA-AU 1 202858478 202858478 single base substitution C T downstream_gene_variant PACA-AU 1 202866029 202866029 single base substitution C T missense_variant V298M 892G>A PACA-AU 1 202866029 202866029 single base substitution C T missense_variant V31M 91G>A PACA-AU 1 202866029 202866029 single base substitution C T missense_variant V336M 1006G>A PACA-AU 1 202868273 202868273 single base substitution T A intron_variant PACA-AU 1 202868955 202868955 single base substitution A T intron_variant PACA-AU 1 202869794 202869794 single base substitution C T intron_variant PACA-AU 1 202870047 202870047 deletion of <=200bp T - intron_variant PACA-AU 1 202871032 202871032 single base substitution C A intron_variant PACA-AU 1 202871355 202871355 single base substitution C T intron_variant PACA-AU 1 202874213 202874213 single base substitution C T downstream_gene_variant PACA-AU 1 202874213 202874213 single base substitution C T intron_variant PACA-AU 1 202874316 202874316 single base substitution G C downstream_gene_variant PACA-AU 1 202874316 202874316 single base substitution G C intron_variant PACA-AU 1 202876743 202876743 single base substitution G A downstream_gene_variant PACA-AU 1 202876743 202876743 single base substitution G A intron_variant PACA-AU 1 202876853 202876853 single base substitution A G downstream_gene_variant PACA-AU 1 202876853 202876853 single base substitution A G intron_variant PACA-AU 1 202881690 202881690 single base substitution C T intron_variant PACA-AU 1 202881690 202881690 single base substitution C T upstream_gene_variant PACA-AU 1 202886931 202886931 single base substitution G A intron_variant PACA-AU 1 202887449 202887449 single base substitution C T synonymous_variant R139R 417G>A PACA-AU 1 202887449 202887449 single base substitution C T synonymous_variant R177R 531G>A PACA-AU 1 202887567 202887567 single base substitution T G intron_variant PACA-AU 1 202892958 202892958 single base substitution C T intron_variant PACA-AU 1 202898844 202898844 single base substitution G T upstream_gene_variant PACA-AU 1 202899320 202899320 single base substitution C T upstream_gene_variant PACA-AU 1 202900503 202900503 single base substitution A G upstream_gene_variant PACA-AU 1 202900894 202900894 single base substitution C T upstream_gene_variant PACA-CA 1 202855514 202855514 single base substitution G A downstream_gene_variant PACA-CA 1 202857278 202857278 single base substitution G C downstream_gene_variant PACA-CA 1 202858815 202858815 single base substitution C A downstream_gene_variant PACA-CA 1 202863547 202863547 single base substitution G A intron_variant PACA-CA 1 202863844 202863844 single base substitution C T missense_variant S123N 368G>A PACA-CA 1 202863844 202863844 single base substitution C T missense_variant S390N 1169G>A PACA-CA 1 202863844 202863844 single base substitution C T missense_variant S428N 1283G>A PACA-CA 1 202863884 202863884 deletion of <=200bp A - splice_region_variant PACA-CA 1 202866487 202866487 single base substitution C A intron_variant PACA-CA 1 202867350 202867350 single base substitution A G intron_variant PACA-CA 1 202873145 202873148 deletion of <=200bp TATC - downstream_gene_variant PACA-CA 1 202873145 202873148 deletion of <=200bp TATC - intron_variant PACA-CA 1 202875892 202875892 single base substitution C T downstream_gene_variant PACA-CA 1 202875892 202875892 single base substitution C T intron_variant PACA-CA 1 202877059 202877059 single base substitution G A downstream_gene_variant PACA-CA 1 202877059 202877059 single base substitution G A intron_variant PACA-CA 1 202880561 202880561 single base substitution C T intron_variant PACA-CA 1 202880561 202880561 single base substitution C T upstream_gene_variant PACA-CA 1 202880981 202880981 single base substitution G A intron_variant PACA-CA 1 202880981 202880981 single base substitution G A upstream_gene_variant PACA-CA 1 202883628 202883628 single base substitution T C intron_variant PACA-CA 1 202894318 202894318 single base substitution G A 5_prime_UTR_variant PACA-CA 1 202894318 202894318 single base substitution G A synonymous_variant T29T 87C>T PACA-CA 1 202897077 202897077 single base substitution C T intron_variant PACA-CA 1 202897077 202897077 single base substitution C T upstream_gene_variant PACA-CA 1 202898039 202898039 single base substitution C G upstream_gene_variant PACA-CA 1 202901157 202901157 single base substitution G T upstream_gene_variant PACA-CA 1 202901413 202901413 single base substitution T A upstream_gene_variant PACA-CA 1 202902394 202902394 insertion of <=200bp - T upstream_gene_variant PAEN-AU 1 202876743 202876743 single base substitution G A downstream_gene_variant PAEN-AU 1 202876743 202876743 single base substitution G A intron_variant PBCA-DE 1 202865213 202865213 single base substitution G A intron_variant PBCA-DE 1 202873068 202873068 single base substitution C T intron_variant PBCA-DE 1 202873121 202873121 insertion of <=200bp - TATC intron_variant PBCA-DE 1 202902716 202902716 single base substitution C T upstream_gene_variant PRAD-CA 1 202891708 202891708 single base substitution G A intron_variant PRAD-CA 1 202899078 202899078 single base substitution G A upstream_gene_variant PRAD-CA 1 202901659 202901659 single base substitution G A upstream_gene_variant PRAD-UK 1 202865698 202865698 single base substitution A C intron_variant PRAD-UK 1 202869520 202869520 single base substitution T G intron_variant PRAD-UK 1 202870142 202870142 single base substitution C A intron_variant PRAD-UK 1 202871257 202871257 single base substitution C T intron_variant PRAD-UK 1 202871593 202871593 single base substitution C T intron_variant PRAD-UK 1 202873196 202873196 single base substitution G A downstream_gene_variant PRAD-UK 1 202873196 202873196 single base substitution G A intron_variant PRAD-UK 1 202878677 202878677 single base substitution C A intron_variant PRAD-UK 1 202878677 202878677 single base substitution C A upstream_gene_variant PRAD-UK 1 202894207 202894210 deletion of <=200bp CTTC - frameshift_variant RK27 PRAD-UK 1 202894207 202894210 deletion of <=200bp CTTC - frameshift_variant RK65 PRAD-UK 1 202897712 202897712 single base substitution G A 5_prime_UTR_variant PRAD-UK 1 202897712 202897712 single base substitution G A upstream_gene_variant PRAD-US 1 202861726 202861726 single base substitution C T 3_prime_UTR_variant PRAD-US 1 202861726 202861726 single base substitution C T missense_variant E548K 1642G>A PRAD-US 1 202861726 202861726 single base substitution C T missense_variant E586K 1756G>A PRAD-US 1 202861756 202861756 single base substitution C T 3_prime_UTR_variant PRAD-US 1 202861756 202861756 single base substitution C T missense_variant E538K 1612G>A PRAD-US 1 202861756 202861756 single base substitution C T missense_variant E576K 1726G>A READ-US 1 202858154 202858154 single base substitution G A downstream_gene_variant READ-US 1 202878143 202878143 single base substitution C T missense_variant R276H 827G>A READ-US 1 202878143 202878143 single base substitution C T missense_variant R314H 941G>A READ-US 1 202878143 202878143 single base substitution C T missense_variant R9H 26G>A READ-US 1 202880212 202880212 deletion of <=200bp G - frameshift_variant P229 READ-US 1 202880212 202880212 deletion of <=200bp G - frameshift_variant P267 READ-US 1 202880212 202880212 deletion of <=200bp G - upstream_gene_variant RECA-EU 1 202857003 202857003 single base substitution T G downstream_gene_variant RECA-EU 1 202869990 202869990 single base substitution T C intron_variant RECA-EU 1 202876180 202876180 single base substitution G C downstream_gene_variant RECA-EU 1 202876180 202876180 single base substitution G C intron_variant RECA-EU 1 202892192 202892192 single base substitution G T intron_variant SKCA-BR 1 202855880 202855880 single base substitution T C downstream_gene_variant SKCA-BR 1 202856153 202856157 deletion of <=200bp TTTTG - downstream_gene_variant SKCA-BR 1 202856157 202856157 single base substitution G T downstream_gene_variant SKCA-BR 1 202861566 202861566 single base substitution A G 3_prime_UTR_variant SKCA-BR 1 202862052 202862052 single base substitution C A intron_variant SKCA-BR 1 202862749 202862749 single base substitution G T intron_variant SKCA-BR 1 202866802 202866802 single base substitution A G intron_variant SKCA-BR 1 202868778 202868779 deletion of <=200bp AC - intron_variant SKCA-BR 1 202869769 202869769 single base substitution A G intron_variant SKCA-BR 1 202872752 202872752 single base substitution C T intron_variant SKCA-BR 1 202872757 202872757 single base substitution C T intron_variant SKCA-BR 1 202887370 202887370 single base substitution C T missense_variant V166I 496G>A SKCA-BR 1 202887370 202887370 single base substitution C T missense_variant V204I 610G>A SKCA-BR 1 202891485 202891485 single base substitution G A intron_variant SKCA-BR 1 202896180 202896180 single base substitution G A intron_variant SKCA-BR 1 202896411 202896411 single base substitution C T intron_variant SKCA-BR 1 202896411 202896411 single base substitution C T upstream_gene_variant SKCA-BR 1 202899518 202899518 single base substitution C T upstream_gene_variant SKCA-BR 1 202900413 202900413 single base substitution C T upstream_gene_variant SKCA-BR 1 202901101 202901101 single base substitution C T upstream_gene_variant SKCA-BR 1 202902033 202902033 single base substitution C T upstream_gene_variant SKCM-US 1 202861744 202861744 single base substitution G A 3_prime_UTR_variant SKCM-US 1 202861744 202861744 single base substitution G A missense_variant P542S 1624C>T SKCM-US 1 202861744 202861744 single base substitution G A missense_variant P580S 1738C>T SKCM-US 1 202861773 202861773 single base substitution G A missense_variant P203S 607C>T SKCM-US 1 202861773 202861773 single base substitution G A missense_variant S532F 1595C>T SKCM-US 1 202861773 202861773 single base substitution G A missense_variant S570F 1709C>T SKCM-US 1 202862461 202862461 single base substitution G A intron_variant SKCM-US 1 202862461 202862461 single base substitution G A missense_variant R496C 1486C>T SKCM-US 1 202862461 202862461 single base substitution G A missense_variant R534C 1600C>T SKCM-US 1 202862510 202862510 single base substitution C A intron_variant SKCM-US 1 202862510 202862510 single base substitution C A synonymous_variant G479G 1437G>T SKCM-US 1 202862510 202862510 single base substitution C A synonymous_variant G517G 1551G>T SKCM-US 1 202862512 202862512 single base substitution C A intron_variant SKCM-US 1 202862512 202862512 single base substitution C A missense_variant G479W 1435G>T SKCM-US 1 202862512 202862512 single base substitution C A missense_variant G517W 1549G>T SKCM-US 1 202864694 202864694 single base substitution G A missense_variant P364L 1091C>T SKCM-US 1 202864694 202864694 single base substitution G A missense_variant P402L 1205C>T SKCM-US 1 202864694 202864694 single base substitution G A missense_variant P97L 290C>T SKCM-US 1 202864777 202864777 single base substitution G A synonymous_variant G336G 1008C>T SKCM-US 1 202864777 202864777 single base substitution G A synonymous_variant G374G 1122C>T SKCM-US 1 202864777 202864777 single base substitution G A synonymous_variant G69G 207C>T SKCM-US 1 202888910 202888910 single base substitution G A missense_variant P108S 322C>T SKCM-US 1 202888910 202888910 single base substitution G A missense_variant P146S 436C>T STAD-US 1 202861698 202861698 single base substitution C T 3_prime_UTR_variant STAD-US 1 202861698 202861698 single base substitution C T missense_variant R557H 1670G>A STAD-US 1 202861698 202861698 single base substitution C T missense_variant R595H 1784G>A STAD-US 1 202862461 202862461 single base substitution G A intron_variant STAD-US 1 202862461 202862461 single base substitution G A missense_variant R496C 1486C>T STAD-US 1 202862461 202862461 single base substitution G A missense_variant R534C 1600C>T STAD-US 1 202863757 202863757 single base substitution G A missense_variant A152V 455C>T STAD-US 1 202863757 202863757 single base substitution G A missense_variant A419V 1256C>T STAD-US 1 202863757 202863757 single base substitution G A missense_variant A457V 1370C>T STAD-US 1 202878254 202878254 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 1 202878254 202878254 single base substitution T A splice_acceptor_variant STAD-US 1 202880242 202880242 single base substitution T C synonymous_variant L219L 657A>G STAD-US 1 202880242 202880242 single base substitution T C synonymous_variant L257L 771A>G STAD-US 1 202880242 202880242 single base substitution T C upstream_gene_variant STAD-US 1 202894140 202894140 single base substitution G A synonymous_variant L51L 151C>T STAD-US 1 202894140 202894140 single base substitution G A synonymous_variant L89L 265C>T STAD-US 1 202894275 202894275 single base substitution C T missense_variant A44T 130G>A STAD-US 1 202894275 202894275 single base substitution C T missense_variant A6T 16G>A UCEC-US 1 202862411 202862411 single base substitution A G intron_variant UCEC-US 1 202862411 202862411 single base substitution A G synonymous_variant Y512Y 1536T>C UCEC-US 1 202862411 202862411 single base substitution A G synonymous_variant Y550Y 1650T>C UCEC-US 1 202862460 202862460 single base substitution C T intron_variant UCEC-US 1 202862460 202862460 single base substitution C T missense_variant R496H 1487G>A UCEC-US 1 202862460 202862460 single base substitution C T missense_variant R534H 1601G>A UCEC-US 1 202863726 202863726 single base substitution G T stop_gained Y162* 486C>A UCEC-US 1 202863726 202863726 single base substitution G T stop_gained Y429* 1287C>A UCEC-US 1 202863726 202863726 single base substitution G T stop_gained Y467* 1401C>A UCEC-US 1 202864836 202864836 single base substitution G A missense_variant R317C 949C>T UCEC-US 1 202864836 202864836 single base substitution G A missense_variant R355C 1063C>T UCEC-US 1 202864836 202864836 single base substitution G A missense_variant R50C 148C>T UCEC-US 1 202866074 202866074 single base substitution G T missense_variant L16I 46C>A UCEC-US 1 202866074 202866074 single base substitution G T missense_variant L283I 847C>A UCEC-US 1 202866074 202866074 single base substitution G T missense_variant L321I 961C>A UCEC-US 1 202878177 202878177 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 1 202878177 202878177 single base substitution G A missense_variant R265W 793C>T UCEC-US 1 202878177 202878177 single base substitution G A missense_variant R303W 907C>T UCEC-US 1 202878227 202878227 single base substitution C T 5_prime_UTR_variant UCEC-US 1 202878227 202878227 single base substitution C T missense_variant C248Y 743G>A UCEC-US 1 202878227 202878227 single base substitution C T missense_variant C286Y 857G>A UCEC-US 1 202887421 202887421 single base substitution C G missense_variant D149H 445G>C UCEC-US 1 202887421 202887421 single base substitution C G missense_variant D187H 559G>C UCEC-US 1 202887459 202887459 single base substitution A G missense_variant L136P 407T>C UCEC-US 1 202887459 202887459 single base substitution A G missense_variant L174P 521T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D8-A1JA-01 COSM3803501 c.78C>G p.L26L Substitution - coding silent 1:202925085-202925085 - pfg212T COSM4764398 c.896T>C p.V299A Substitution - Missense 1:202896897-202896897 - TCGA-06-5859 COSM2153391 c.1560delG p.R521fs*14 Deletion - Frameshift 1:202893259-202893259 - ESO-117 COSM1255957 c.1591A>T p.N531Y Substitution - Missense 1:202892649-202892649 - SM-4B296 COSM4411906 c.1352G>T p.G451V Substitution - Missense 1:202894225-202894225 - TCGA-EI-6507-01 COSM1560330 c.687delC p.R230fs*6 Deletion - Frameshift 1:202911084-202911084 - 2492720 COSM5723518 c.1400G>A p.G467E Substitution - Missense 1:202893419-202893419 - TCGA-GD-A2C5-01 COSM1295711 c.709G>C p.D237H Substitution - Missense 1:202911062-202911062 - TCGA-AP-A059-01 COSM902397 c.1287C>A p.Y429* Substitution - Nonsense 1:202894598-202894598 - TCGA-HC-7817-01 COSM3671588 c.1642G>A p.E548K Substitution - Missense 1:202892598-202892598 - LUAD-YINHD COSM349923 c.127G>C p.D43H Substitution - Missense 1:202925036-202925036 - TCGA-GD-A2C5-01 COSM1295712 c.592G>C p.E198Q Substitution - Missense 1:202911179-202911179 - TCGA-CA-6718-01 COSM1337934 c.384T>C p.S128S Substitution - coding silent 1:202918354-202918354 - PT52 COSM5938694 c.1581-3C>T p.? Unknown 1:202892662-202892662 - LUAD-RT-S01810 COSM382755 c.728G>T p.R243L Substitution - Missense 1:202909114-202909114 - TCGA-CG-4305-01 COSM4027116 c.151C>T p.L51L Substitution - coding silent 1:202925012-202925012 - CSCC-47-T COSM4507558 c.74C>T p.S25F Substitution - Missense 1:202925089-202925089 - CHC2141T COSM4790131 c.1339G>A p.D447N Substitution - Missense 1:202894238-202894238 - TCGA-AP-A059-01 COSM902401 c.743G>A p.C248Y Substitution - Missense 1:202909099-202909099 - HCT15 COSM1668380 c.668G>A p.R223Q Substitution - Missense 1:202911103-202911103 - H1155 COSM1196023 c.142C>T p.R48W Substitution - Missense 1:202925021-202925021 - TCGA-21-1070-01 COSM678100 c.233G>C p.G78A Substitution - Missense 1:202919871-202919871 - 8061185 COSM3385632 c.417G>A p.R139R Substitution - coding silent 1:202918321-202918321 - TCGA-HU-8602-01 COSM4027114 c.657A>G p.L219L Substitution - coding silent 1:202911114-202911114 - B103 COSM1748086 c.1222A>G p.M408V Substitution - Missense 1:202894663-202894663 - TCGA-AD-6964-01 COSM1337933 c.666G>A p.V222V Substitution - coding silent 1:202911105-202911105 - 587278 COSM1212611 c.1472A>G p.E491G Substitution - Missense 1:202893347-202893347 - TCGA-CA-6717-01 COSM1337932 c.918T>G p.T306T Substitution - coding silent 1:202896875-202896875 - LOVO COSM2213231 c.794G>A p.R265Q Substitution - Missense 1:202909048-202909048 - 2492722 COSM5723518 c.1400G>A p.G467E Substitution - Missense 1:202893419-202893419 - PD4203a COSM162022 c.1650G>C p.V550V Substitution - coding silent 1:202892590-202892590 - SNUH_G76_S1 COSM146736 c.567+4C>T p.? Unknown 1:202918167-202918167 - SC_9028 COSM5553818 c.254A>G p.E85G Substitution - Missense 1:202919850-202919850 - 2492723 COSM5723518 c.1400G>A p.G467E Substitution - Missense 1:202893419-202893419 - TCGA-AB-2818-03 COSM1317588 c.1273A>C p.S425R Substitution - Missense 1:202894612-202894612 - TCGA-B5-A0JY-01 COSM902399 c.847C>A p.L283I Substitution - Missense 1:202896946-202896946 - PD5960a COSM5778572 c.1444G>T p.D482Y Substitution - Missense 1:202893375-202893375 - CSCC-32-T COSM4507558 c.74C>T p.S25F Substitution - Missense 1:202925089-202925089 - T263 COSM4696450 c.110T>C p.L37S Substitution - Missense 1:202925053-202925053 - PD18048a COSM5797129 c.490G>T p.E164* Substitution - Nonsense 1:202918248-202918248 - sysucc-880T COSM2213245 c.94C>A p.L32I Substitution - Missense 1:202925069-202925069 - HCT-15 COSM1668380 c.668G>A p.R223Q Substitution - Missense 1:202911103-202911103 - 2492721 COSM5723518 c.1400G>A p.G467E Substitution - Missense 1:202893419-202893419 - PA107 COSM1162422 c.1128C>T p.T376T Substitution - coding silent 1:202895529-202895529 - TCGA-BR-4184-01 COSM4027110 c.1256C>T p.A419V Substitution - Missense 1:202894629-202894629 - SNUH_G45_S1 COSM146736 c.567+4C>T p.? Unknown 1:202918167-202918167 - 3492 COSM1644717 c.1141A>T p.I381F Substitution - Missense 1:202894744-202894744 - 134427 COSM321274 c.940-1G>A p.? Unknown 1:202895718-202895718 - PCSI_0015_Pa_P_526 COSM4963271 c.1169G>A p.S390N Substitution - Missense 1:202894716-202894716 - SC_9109 COSM5567357 c.398C>T p.S133F Substitution - Missense 1:202918340-202918340 - YUJUBE COSM5379251 c.775C>T p.H259Y Substitution - Missense 1:202909067-202909067 - KM12 COSM1668379 c.742T>C p.C248R Substitution - Missense 1:202909100-202909100 - TCGA-EE-A29E-06 COSM3481753 c.1435G>T p.G479W Substitution - Missense 1:202893384-202893384 - TCGA-FW-A3R5-06 COSM3864135 c.1595C>T p.S532F Substitution - Missense 1:202892645-202892645 - AD17 COSM5966244 c.1518G>T p.M506I Substitution - Missense 1:202893301-202893301 - PD4203a COSM162021 c.280G>A p.E94K Substitution - Missense 1:202919824-202919824 - ACINAR26 COSM1733795 c.237G>C p.L79F Substitution - Missense 1:202919867-202919867 - CSCC-32-T COSM4467019 c.1466C>T p.S489F Substitution - Missense 1:202893353-202893353 - ME024T COSM225980 c.191G>A p.S64N Substitution - Missense 1:202924972-202924972 - B103-Tumor COSM1748086 c.1222A>G p.M408V Substitution - Missense 1:202894663-202894663 - 2521252 COSM5888571 c.833-3C>T p.? Unknown 1:202896963-202896963 - T3024 COSM4696446 c.1434G>A p.V478V Substitution - coding silent 1:202893385-202893385 - TCGA-AX-A0J1-01 COSM902396 c.1487G>A p.R496H Substitution - Missense 1:202893332-202893332 - SNUH_G16_S1 COSM3997155 c.285A>G p.T95T Substitution - coding silent 1:202919819-202919819 - TCGA-D1-A103-01 COSM902403 c.407T>C p.L136P Substitution - Missense 1:202918331-202918331 - LUAD-S01405 COSM399032 c.760G>T p.E254* Substitution - Nonsense 1:202909082-202909082 - ESOSCC162T COSM1172091 c.646C>T p.P216S Substitution - Missense 1:202911125-202911125 - LUAD-S01405 COSM399031 c.768G>A p.K256K Substitution - coding silent 1:202909074-202909074 - PD4120a COSM162020 c.757G>C p.D253H Substitution - Missense 1:202909085-202909085 - TCGA-EE-A2MI-06 COSM3481751 c.1486C>T p.R496C Substitution - Missense 1:202893333-202893333 - LUAD-RT-S01721 COSM380280 c.1439G>A p.G480E Substitution - Missense 1:202893380-202893380 - CHC2141T COSM4790131 c.1339G>A p.D447N Substitution - Missense 1:202894238-202894238 - TCGA-A8-A09N-01 COSM425035 c.1533C>G p.C511W Substitution - Missense 1:202893286-202893286 - HCT8 COSM1668380 c.668G>A p.R223Q Substitution - Missense 1:202911103-202911103 - LUAD-F00282 COSM366992 c.1150T>A p.S384T Substitution - Missense 1:202894735-202894735 - TCGA-FP-7735-01 COSM4027112 c.718-2A>T p.? Unknown 1:202909126-202909126 - H358 COSM1194084 c.1475C>T p.A492V Substitution - Missense 1:202893344-202893344 - sysucc-1370T COSM2213223 c.1175G>A p.R392H Substitution - Missense 1:202894710-202894710 - PD18048a COSM5790541 c.491A>T p.E164V Substitution - Missense 1:202918247-202918247 - TCGA-BR-8297-01 COSM4027108 c.1670G>A p.R557H Substitution - Missense 1:202892570-202892570 - TCGA-FR-A3YO-06 COSM3481757 c.322C>T p.P108S Substitution - Missense 1:202919782-202919782 - GC8_T COSM146736 c.567+4C>T p.? Unknown 1:202918167-202918167 - TCGA-AP-A059-01 COSM902398 c.949C>T p.R317C Substitution - Missense 1:202895708-202895708 - TCGA-FW-A3R5-06 COSM3864133 c.1624C>T p.P542S Substitution - Missense 1:202892616-202892616 - TCGA-EE-A2MJ-06 COSM3481755 c.1091C>T p.P364L Substitution - Missense 1:202895566-202895566 - Pat_07_B COSM5845158 c.1439delG p.G480fs*27 Deletion - Frameshift 1:202893380-202893380 - CCK81 COSM2213237 c.492A>G p.E164E Substitution - coding silent 1:202918246-202918246 - TCGA-HF-7132-01 COSM4027118 c.16G>A p.A6T Substitution - Missense 1:202925147-202925147 - 2217539 COSM4421682 c.872G>T p.S291I Substitution - Missense 1:202896921-202896921 - TCGA-F5-6814-01 COSM3418618 c.827G>A p.R276H Substitution - Missense 1:202909015-202909015 - LOXIMVI COSM1683134 c.328delG p.A110fs*6 Deletion - Frameshift 1:202919776-202919776 - 30996 COSM5044029 c.62A>C p.N21T Substitution - Missense 1:202925101-202925101 - HCC068T COSM5824240 c.409G>T p.G137C Substitution - Missense 1:202918329-202918329 - ESO-120 COSM1255958 c.1322A>G p.N441S Substitution - Missense 1:202894255-202894255 - TCGA-AP-A056-01 COSM902400 c.793C>T p.R265W Substitution - Missense 1:202909049-202909049 - 8035740 COSM3385630 c.892G>A p.V298M Substitution - Missense 1:202896901-202896901 - SA098 COSM213662 c.1192C>T p.R398C Substitution - Missense 1:202894693-202894693 - DN12101 COSM5790541 c.491A>T p.E164V Substitution - Missense 1:202918247-202918247 - TCGA-AZ-4315-01 COSM1337930 c.1581-1G>T p.? Unknown 1:202892660-202892660 - KM12 COSM1668379 c.742T>C p.C248R Substitution - Missense 1:202909100-202909100 - TCGA-ER-A19P-06 COSM3864137 c.1437G>T p.G479G Substitution - coding silent 1:202893382-202893382 - TCGA-EW-A1P8-01 COSM1473269 c.1412T>C p.L471P Substitution - Missense 1:202893407-202893407 - WSU-HN6 COSM4602177 c.1024C>T p.R342C Substitution - Missense 1:202895633-202895633 - TCGA-AN-A046-01 COSM902400 c.793C>T p.R265W Substitution - Missense 1:202909049-202909049 - SNUH_G10_S1 COSM3997155 c.285A>G p.T95T Substitution - coding silent 1:202919819-202919819 - YUBER COSM1689633 c.427G>T p.E143* Substitution - Nonsense 1:202918311-202918311 - I2L-P7-Tumor-Organoid COSM4027118 c.16G>A p.A6T Substitution - Missense 1:202925147-202925147 - DN12101 COSM5797129 c.490G>T p.E164* Substitution - Nonsense 1:202918248-202918248 - TCGA-CD-A4MG-01 COSM3481751 c.1486C>T p.R496C Substitution - Missense 1:202893333-202893333 - ESCC-012T COSM3934401 c.1444G>A p.D482N Substitution - Missense 1:202893375-202893375 - DLD1 COSM1668380 c.668G>A p.R223Q Substitution - Missense 1:202911103-202911103 - TCGA-HC-7817-01 COSM3671590 c.1612G>A p.E538K Substitution - Missense 1:202892628-202892628 - TCGA-B1-A47M-01 COSM4414716 c.873C>T p.S291S Substitution - coding silent 1:202896920-202896920 - TCGA-D9-A6EC-06 COSM4401250 c.1008C>T p.G336G Substitution - coding silent 1:202895649-202895649 - TCGA-AP-A0LL-01 COSM902402 c.445G>C p.D149H Substitution - Missense 1:202918293-202918293 - TCGA-D1-A160-01 COSM902395 c.1536T>C p.Y512Y Substitution - coding silent 1:202893283-202893283 - T3064 COSM4696448 c.143G>A p.R48Q Substitution - Missense 1:202925020-202925020 - TCGA-D5-6540-01 COSM1337931 c.1019G>A p.R340H Substitution - Missense 1:202895638-202895638 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.706793 1q32.1 614522

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.L227P c.680T>C 1 202880219 CM A G Missense p.L471P c.1412T>C 1 202862535 BRCA A G Synonymous p.Y512Y c.1536T>C 1 202862411 UCEC C A IntronicSNV . c.568-969G>T 1 202881300 CM C A Missense p.L115F c.345G>T 1 202888887 LUAD C A Synonymous p.G479G c.1437G>T 1 202862510 CM C A Synonymous p.V179V c.537G>T 1 202887329 LUAD - CCTACTA IntronicInsertion . c.350-119_350-118insTAGTAGG 1 202887634 CLL C - Frameshift p.R521Dfs*14 c.1560delG 1 202862387 GBM C G Missense p.D149H c.445G>C 1 202887421 UCEC C G Missense p.D237H c.709G>C 1 202880190 BLCA C G Missense p.D253H c.757G>C 1 202878213 BRCA C G Missense p.E198Q c.592G>C 1 202880307 BLCA C G Missense p.G78A c.233G>C 1 202888999 LUSC C G Missense p.Q413H c.1239G>C 1 202863774 HNSC C G Synonymous p.V550V c.1650G>C 1 202861718 BRCA C T Missense p.A424T c.1270G>A 1 202863743 CM C T Missense p.D338N c.1012G>A 1 202864773 HNSC C T Missense p.E538K c.1612G>A 1 202861756 PRAD C T Missense p.E548K c.1642G>A 1 202861726 PRAD C T Missense p.E94K c.280G>A 1 202888952 BRCA C T Missense p.M11I c.33G>A 1 202894258 STAD C T Missense p.S64N c.191G>A 1 202894100 CM C T SpliceAcceptorSNV . c.940-1G>A 1 202864846 SCLC C T Synonymous p.R272R c.816G>A 1 202878154 LUAD G A IntronicSNV . c.567+1827C>T 1 202885472 CLL G A IntronicSNV . c.568-735C>T 1 202881066 CM G A Missense p.P132L c.395C>T 1 202887471 HNSC G A Missense p.P364L c.1091C>T 1 202864694 CM G A Missense p.R317C c.949C>T 1 202864836 CM G A Missense p.R398C c.1192C>T 1 202863821 BRCA G A Missense p.R496C c.1486C>T 1 202862461 CM G A Synonymous p.I76I c.228C>T 1 202889004 CM G A Synonymous p.L51L c.151C>T 1 202894140 STAD G A Synonymous p.S552S c.1656C>T 1 202861712 CM G C Missense p.C511W c.1533C>G 1 202862414 BRCA G C Synonymous p.L20L c.60C>G 1 202894231 BRCA G C Synonymous p.V200V c.600C>G 1 202880299 MM G T Missense p.Q120K c.358C>A 1 202887508 HNSC T A Missense p.N531Y c.1591A>T 1 202861777 ESCA T C Missense p.N441S c.1322A>G 1 202863383 ESCA T G Missense p.S425R c.1273A>C 1 202863740 AML