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 20 34214192 34214192 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 g.chr20:34214192T>C c.1585A>G c.(1585-1587)Aag>Gag p.K529E BLCA 20 34214245 34214245 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr20:34214245G>A c.1532C>T c.(1531-1533)tCa>tTa p.S511L BLCA 20 34214645 34214645 + Silent SNP C C G TCGA-BT-A42F-01A-11D-A23U-08 TCGA-BT-A42F-10A-01D-A23U-08 g.chr20:34214645C>G c.1317G>C c.(1315-1317)tcG>tcC p.S439S BLCA 20 34218894 34218894 + Silent SNP C C T TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr20:34218894C>T c.924G>A c.(922-924)ctG>ctA p.L308L BLCA 20 34218928 34218928 + Missense_Mutation SNP C C G TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr20:34218928C>G c.890G>C c.(889-891)gGa>gCa p.G297A BLCA 20 34219050 34219050 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr20:34219050G>A c.847C>T c.(847-849)Cag>Tag p.Q283* BLCA 20 34219095 34219095 + Splice_Site SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 g.chr20:34219095C>T c.802G>A c.(802-804)Gta>Ata p.V268I BLCA 20 34219189 34219189 + Splice_Site SNP C C G TCGA-KQ-A41N-01A-11D-A339-08 TCGA-KQ-A41N-10D-01D-A339-08 g.chr20:34219189C>G c.e11+1 BLCA 20 34219208 34219208 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr20:34219208G>A c.783C>T c.(781-783)atC>atT p.I261I BLCA 20 34219273 34219273 + Missense_Mutation SNP C C T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr20:34219273C>T c.718G>A c.(718-720)Gag>Aag p.E240K BLCA 20 34219936 34219936 + Silent SNP T T A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr20:34219936T>A c.468A>T c.(466-468)ggA>ggT p.G156G BLCA 20 34220101 34220101 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr20:34220101C>G c.440G>C c.(439-441)aGa>aCa p.R147T BLCA 20 34220269 34220269 + Silent SNP C C A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 g.chr20:34220269C>A c.348G>T c.(346-348)ctG>ctT p.L116L BLCA 20 34220496 34220496 + Missense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr20:34220496C>A c.252G>T c.(250-252)aaG>aaT p.K84N BRCA 20 34214714 34214714 + Missense_Mutation SNP C C T TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr20:34214714C>T c.1248G>A c.(1246-1248)atG>atA p.M416I BRCA 20 34218833 34218833 + Missense_Mutation SNP C C T TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 g.chr20:34218833C>T c.985G>A c.(985-987)Gac>Aac p.D329N CESC 20 34219869 34219869 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 g.chr20:34219869C>T c.535G>A c.(535-537)Gag>Aag p.E179K CHOL 20 34218396 34218396 + Missense_Mutation SNP G G A TCGA-W5-AA2O-01A-11D-A417-09 TCGA-W5-AA2O-10A-01D-A41A-09 g.chr20:34218396G>A c.1067C>T c.(1066-1068)gCc>gTc p.A356V COAD 20 34214270 34214270 + Missense_Mutation SNP C C T TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr20:34214270C>T c.1507G>A c.(1507-1509)Gca>Aca p.A503T COAD 20 34214276 34214276 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr20:34214276C>T c.1501G>A c.(1501-1503)Gtg>Atg p.V501M COAD 20 34214666 34214666 + Silent SNP A A T TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr20:34214666A>T c.1296T>A c.(1294-1296)cgT>cgA p.R432R COAD 20 34215203 34215203 + Splice_Site SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr20:34215203G>A c.1235C>T c.(1234-1236)tCg>tTg p.S412L COAD 20 34215288 34215288 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr20:34215288G>A c.1150C>T c.(1150-1152)Cgc>Tgc p.R384C COAD 20 34220487 34220487 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr20:34220487C>T c.261G>A c.(259-261)gaG>gaA p.E87E COAD 20 34220551 34220551 + Missense_Mutation SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr20:34220551T>C c.197A>G c.(196-198)tAc>tGc p.Y66C COADREAD 20 34214270 34214270 + Missense_Mutation SNP C C T TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr20:34214270C>T c.1507G>A c.(1507-1509)Gca>Aca p.A503T COADREAD 20 34214276 34214276 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr20:34214276C>T c.1501G>A c.(1501-1503)Gtg>Atg p.V501M COADREAD 20 34214666 34214666 + Silent SNP A A T TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr20:34214666A>T c.1296T>A c.(1294-1296)cgT>cgA p.R432R COADREAD 20 34215203 34215203 + Splice_Site SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr20:34215203G>A c.1235C>T c.(1234-1236)tCg>tTg p.S412L COADREAD 20 34215288 34215288 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr20:34215288G>A c.1150C>T c.(1150-1152)Cgc>Tgc p.R384C COADREAD 20 34220487 34220487 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr20:34220487C>T c.261G>A c.(259-261)gaG>gaA p.E87E COADREAD 20 34220551 34220551 + Missense_Mutation SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr20:34220551T>C c.197A>G c.(196-198)tAc>tGc p.Y66C ESCA 20 34215317 34215317 + Missense_Mutation SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 g.chr20:34215317T>C c.1121A>G c.(1120-1122)gAt>gGt p.D374G ESCA 20 34218840 34218840 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr20:34218840C>A c.978G>T c.(976-978)gtG>gtT p.V326V ESCA 20 34219461 34219461 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr20:34219461G>C c.667C>G c.(667-669)Ctc>Gtc p.L223V HNSC 20 34214297 34214297 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 g.chr20:34214297G>A c.1480C>T c.(1480-1482)Cgg>Tgg p.R494W KIPAN 20 34214664 34214664 + Missense_Mutation SNP T T G TCGA-B2-3924-01A-02D-1386-10 TCGA-B2-3924-11A-01D-1251-10 g.chr20:34214664T>G c.1298A>C c.(1297-1299)gAg>gCg p.E433A KIPAN 20 34219276 34219277 + Splice_Site DEL CC CC - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr20:34219276_34219277delCC c.715delGG c.(715-717)ggc>gc p.G239fs KIPAN 20 34219486 34219486 + Silent SNP A A G TCGA-BP-5168-01A-01D-1421-08 TCGA-BP-5168-11A-01D-1421-08 g.chr20:34219486A>G c.642T>C c.(640-642)gaT>gaC p.D214D KIRC 20 34214664 34214664 + Missense_Mutation SNP T T G TCGA-B2-3924-01A-02D-1386-10 TCGA-B2-3924-11A-01D-1251-10 g.chr20:34214664T>G c.1298A>C c.(1297-1299)gAg>gCg p.E433A KIRC 20 34219276 34219277 + Splice_Site DEL CC CC - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr20:34219276_34219277delCC c.715delGG c.(715-717)ggc>gc p.G239fs KIRC 20 34219486 34219486 + Silent SNP A A G TCGA-BP-5168-01A-01D-1421-08 TCGA-BP-5168-11A-01D-1421-08 g.chr20:34219486A>G c.642T>C c.(640-642)gaT>gaC p.D214D LIHC 20 34215233 34215233 + Missense_Mutation SNP G G A TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr20:34215233G>A c.1205C>T c.(1204-1206)gCa>gTa p.A402V LIHC 20 34220601 34220601 + Silent SNP C C A TCGA-DD-A4NQ-01A-21D-A28X-10 TCGA-DD-A4NQ-10A-01D-A28X-10 g.chr20:34220601C>A c.147G>T c.(145-147)cgG>cgT p.R49R LUAD 20 34214249 34214249 + Frame_Shift_Del DEL C C - TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 g.chr20:34214249delC c.1528delG c.(1528-1530)gtcfs p.V510fs LUAD 20 34214259 34214259 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr20:34214259G>T c.1518C>A c.(1516-1518)ccC>ccA p.P506P LUAD 20 34215225 34215225 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 g.chr20:34215225C>T c.1213G>A c.(1213-1215)Gct>Act p.A405T LUAD 20 34219252 34219252 + Missense_Mutation SNP C C G TCGA-55-A48Y-01A-11D-A24D-08 TCGA-55-A48Y-10A-01D-A24F-08 g.chr20:34219252C>G c.739G>C c.(739-741)Gag>Cag p.E247Q LUAD 20 34220814 34220814 + Missense_Mutation SNP G G C TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr20:34220814G>C c.32C>G c.(31-33)tCc>tGc p.S11C LUSC 20 34219078 34219078 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr20:34219078G>A c.819C>T c.(817-819)tcC>tcT p.S273S OV 20 34219655 34219655 + Silent SNP G G A TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 g.chr20:34219655G>A c.582C>T c.(580-582)gtC>gtT p.V194V OV 20 34219904 34219904 + Missense_Mutation SNP T T A TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 g.chr20:34219904T>A c.500A>T c.(499-501)cAg>cTg p.Q167L SARC 20 34214297 34214297 + Silent SNP G G T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 g.chr20:34214297G>T c.1480C>A c.(1480-1482)Cgg>Agg p.R494R SARC 20 34220147 34220147 + Nonsense_Mutation SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 g.chr20:34220147G>A c.394C>T c.(394-396)Cag>Tag p.Q132* SKCM 20 34214176 34214176 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr20:34214176G>A c.1601C>T c.(1600-1602)gCc>gTc p.A534V SKCM 20 34214185 34214185 + Missense_Mutation SNP G G A TCGA-GN-A268-06A-11D-A196-08 TCGA-GN-A268-10A-01D-A198-08 g.chr20:34214185G>A c.1592C>T c.(1591-1593)cCt>cTt p.P531L SKCM 20 34215285 34215285 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr20:34215285G>A c.1153C>T c.(1153-1155)Ctc>Ttc p.L385F SKCM 20 34215288 34215288 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr20:34215288G>A c.1150C>T c.(1150-1152)Cgc>Tgc p.R384C SKCM 20 34218407 34218407 + Silent SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 g.chr20:34218407C>T c.1056G>A c.(1054-1056)tcG>tcA p.S352S SKCM 20 34218677 34218677 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr20:34218677G>A c.1036C>T c.(1036-1038)Ccc>Tcc p.P346S SKCM 20 34219456 34219456 + Silent SNP G G A TCGA-ER-A19W-06A-41D-A23B-08 TCGA-ER-A19W-10A-01D-A23B-08 g.chr20:34219456G>A c.672C>T c.(670-672)atC>atT p.I224I SKCM 20 34219678 34219678 + Missense_Mutation SNP G G A TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr20:34219678G>A c.559C>T c.(559-561)Cct>Tct p.P187S SKCM 20 34219679 34219679 + Silent SNP G G A TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr20:34219679G>A c.558C>T c.(556-558)aaC>aaT p.N186N SKCM 20 34220242 34220242 + Silent SNP C C G TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr20:34220242C>G c.375G>C c.(373-375)ggG>ggC p.G125G SKCM 20 34220449 34220449 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr20:34220449G>A c.299C>T c.(298-300)tCc>tTc p.S100F SKCM 20 34220572 34220572 + Missense_Mutation SNP G G A TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr20:34220572G>A c.176C>T c.(175-177)tCc>tTc p.S59F SKCM 20 34220719 34220719 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr20:34220719C>T c.127G>A c.(127-129)Gag>Aag p.E43K

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 20 34214138 34214138 single base substitution G A 3_prime_UTR_variant BLCA-CN 20 34214138 34214138 single base substitution G A downstream_gene_variant BLCA-CN 20 34214138 34214138 single base substitution G A exon_variant BLCA-CN 20 34214138 34214138 single base substitution G A missense_variant S186F 557C>T BLCA-CN 20 34214277 34214277 single base substitution G T 3_prime_UTR_variant BLCA-CN 20 34214277 34214277 single base substitution G T downstream_gene_variant BLCA-CN 20 34214277 34214277 single base substitution G T exon_variant BLCA-CN 20 34214277 34214277 single base substitution G T missense_variant R140S 418C>A BLCA-CN 20 34214277 34214277 single base substitution G T synonymous_variant T444T 1332C>A BLCA-CN 20 34214277 34214277 single base substitution G T synonymous_variant T499T 1497C>A BLCA-CN 20 34214277 34214277 single base substitution G T synonymous_variant T500T 1500C>A BLCA-CN 20 34214277 34214277 single base substitution G T synonymous_variant T505T 1515C>A BLCA-CN 20 34218403 34218403 single base substitution C A downstream_gene_variant BLCA-CN 20 34218403 34218403 single base substitution C A exon_variant BLCA-CN 20 34218403 34218403 single base substitution C A stop_gained E330* 988G>T BLCA-CN 20 34218403 34218403 single base substitution C A stop_gained E354* 1060G>T BLCA-CN 20 34218403 34218403 single base substitution C A stop_gained E359* 1075G>T BLCA-CN 20 34218403 34218403 single base substitution C A upstream_gene_variant BLCA-CN 20 34218718 34218718 single base substitution C T downstream_gene_variant BLCA-CN 20 34218718 34218718 single base substitution C T exon_variant BLCA-CN 20 34218718 34218718 single base substitution C T splice_acceptor_variant BLCA-CN 20 34218718 34218718 single base substitution C T upstream_gene_variant BLCA-CN 20 34219115 34219115 single base substitution C T downstream_gene_variant BLCA-CN 20 34219115 34219115 single base substitution C T intron_variant BLCA-CN 20 34219115 34219115 single base substitution C T upstream_gene_variant BLCA-CN 20 34240897 34240897 single base substitution G A intron_variant BLCA-CN 20 34243211 34243211 single base substitution T C 5_prime_UTR_variant BLCA-CN 20 34243211 34243211 single base substitution T C downstream_gene_variant BLCA-CN 20 34243211 34243211 single base substitution T C intron_variant BLCA-CN 20 34243211 34243211 single base substitution T C upstream_gene_variant BLCA-US 20 34214192 34214192 single base substitution T C 3_prime_UTR_variant BLCA-US 20 34214192 34214192 single base substitution T C downstream_gene_variant BLCA-US 20 34214192 34214192 single base substitution T C exon_variant BLCA-US 20 34214192 34214192 single base substitution T C missense_variant K473E 1417A>G BLCA-US 20 34214192 34214192 single base substitution T C missense_variant K528E 1582A>G BLCA-US 20 34214192 34214192 single base substitution T C missense_variant K529E 1585A>G BLCA-US 20 34214192 34214192 single base substitution T C missense_variant K534E 1600A>G BLCA-US 20 34214192 34214192 single base substitution T C missense_variant Q168R 503A>G BLCA-US 20 34214245 34214245 single base substitution G A 3_prime_UTR_variant BLCA-US 20 34214245 34214245 single base substitution G A downstream_gene_variant BLCA-US 20 34214245 34214245 single base substitution G A exon_variant BLCA-US 20 34214245 34214245 single base substitution G A missense_variant S455L 1364C>T BLCA-US 20 34214245 34214245 single base substitution G A missense_variant S510L 1529C>T BLCA-US 20 34214245 34214245 single base substitution G A missense_variant S511L 1532C>T BLCA-US 20 34214245 34214245 single base substitution G A missense_variant S516L 1547C>T BLCA-US 20 34214245 34214245 single base substitution G A synonymous_variant L150L 450C>T BLCA-US 20 34219095 34219095 single base substitution C T downstream_gene_variant BLCA-US 20 34219095 34219095 single base substitution C T missense_variant V244I 730G>A BLCA-US 20 34219095 34219095 single base substitution C T missense_variant V268I 802G>A BLCA-US 20 34219095 34219095 single base substitution C T missense_variant V273I 817G>A BLCA-US 20 34219095 34219095 single base substitution C T splice_region_variant BLCA-US 20 34219095 34219095 single base substitution C T upstream_gene_variant BLCA-US 20 34219936 34219936 single base substitution T A 3_prime_UTR_variant BLCA-US 20 34219936 34219936 single base substitution T A downstream_gene_variant BLCA-US 20 34219936 34219936 single base substitution T A exon_variant BLCA-US 20 34219936 34219936 single base substitution T A synonymous_variant G132G 396A>T BLCA-US 20 34219936 34219936 single base substitution T A synonymous_variant G156G 468A>T BLCA-US 20 34219936 34219936 single base substitution T A synonymous_variant G161G 483A>T BLCA-US 20 34219936 34219936 single base substitution T A upstream_gene_variant BLCA-US 20 34220101 34220101 single base substitution C G 3_prime_UTR_variant BLCA-US 20 34220101 34220101 single base substitution C G downstream_gene_variant BLCA-US 20 34220101 34220101 single base substitution C G exon_variant BLCA-US 20 34220101 34220101 single base substitution C G intron_variant BLCA-US 20 34220101 34220101 single base substitution C G missense_variant R147T 440G>C BLCA-US 20 34220101 34220101 single base substitution C G missense_variant R152T 455G>C BLCA-US 20 34220101 34220101 single base substitution C G upstream_gene_variant BLCA-US 20 34220496 34220496 single base substitution C A downstream_gene_variant BLCA-US 20 34220496 34220496 single base substitution C A exon_variant BLCA-US 20 34220496 34220496 single base substitution C A missense_variant K84N 252G>T BLCA-US 20 34220496 34220496 single base substitution C A missense_variant K89N 267G>T BLCA-US 20 34220496 34220496 single base substitution C A upstream_gene_variant BLCA-US 20 34242690 34242690 single base substitution G T downstream_gene_variant BLCA-US 20 34242690 34242690 single base substitution G T intron_variant BLCA-US 20 34242690 34242690 single base substitution G T upstream_gene_variant BRCA-EU 20 34209513 34209513 single base substitution C G downstream_gene_variant BRCA-EU 20 34210859 34210859 insertion of <=200bp - A downstream_gene_variant BRCA-EU 20 34213811 34213811 single base substitution G T downstream_gene_variant BRCA-EU 20 34214214 34214214 single base substitution G C 3_prime_UTR_variant BRCA-EU 20 34214214 34214214 single base substitution G C downstream_gene_variant BRCA-EU 20 34214214 34214214 single base substitution G C exon_variant BRCA-EU 20 34214214 34214214 single base substitution G C missense_variant Q161E 481C>G BRCA-EU 20 34214214 34214214 single base substitution G C synonymous_variant L465L 1395C>G BRCA-EU 20 34214214 34214214 single base substitution G C synonymous_variant L520L 1560C>G BRCA-EU 20 34214214 34214214 single base substitution G C synonymous_variant L521L 1563C>G BRCA-EU 20 34214214 34214214 single base substitution G C synonymous_variant L526L 1578C>G BRCA-EU 20 34214884 34214884 single base substitution C T downstream_gene_variant BRCA-EU 20 34214884 34214884 single base substitution C T intron_variant BRCA-EU 20 34214884 34214884 single base substitution C T upstream_gene_variant BRCA-EU 20 34215427 34215427 single base substitution G A downstream_gene_variant BRCA-EU 20 34215427 34215427 single base substitution G A exon_variant BRCA-EU 20 34215427 34215427 single base substitution G A intron_variant BRCA-EU 20 34215427 34215427 single base substitution G A upstream_gene_variant BRCA-EU 20 34220864 34220864 single base substitution G T intron_variant BRCA-EU 20 34220864 34220864 single base substitution G T upstream_gene_variant BRCA-EU 20 34221944 34221944 single base substitution G C intron_variant BRCA-EU 20 34221944 34221944 single base substitution G C upstream_gene_variant BRCA-EU 20 34222334 34222334 single base substitution G A intron_variant BRCA-EU 20 34222334 34222334 single base substitution G A upstream_gene_variant BRCA-EU 20 34223100 34223100 insertion of <=200bp - AT intron_variant BRCA-EU 20 34223100 34223100 insertion of <=200bp - AT upstream_gene_variant BRCA-EU 20 34223706 34223706 single base substitution C T intron_variant BRCA-EU 20 34223706 34223706 single base substitution C T upstream_gene_variant BRCA-EU 20 34224847 34224847 single base substitution T C intron_variant BRCA-EU 20 34224847 34224847 single base substitution T C upstream_gene_variant BRCA-EU 20 34226052 34226052 single base substitution T A intron_variant BRCA-EU 20 34226146 34226146 single base substitution A C intron_variant BRCA-EU 20 34227528 34227528 single base substitution G C intron_variant BRCA-EU 20 34227977 34227977 single base substitution C T intron_variant BRCA-EU 20 34228663 34228689 deletion of <=200bp ACACAGCAGGTGCTCTACTGATATCTG - intron_variant BRCA-EU 20 34229844 34229844 single base substitution A G intron_variant BRCA-EU 20 34231555 34231555 single base substitution C T intron_variant BRCA-EU 20 34231931 34231931 single base substitution G C intron_variant BRCA-EU 20 34232305 34232305 single base substitution T G intron_variant BRCA-EU 20 34233839 34233839 single base substitution C A intron_variant BRCA-EU 20 34233881 34233881 single base substitution G A intron_variant BRCA-EU 20 34234091 34234091 single base substitution A G intron_variant BRCA-EU 20 34234672 34234672 single base substitution G A intron_variant BRCA-EU 20 34235858 34235858 single base substitution C T intron_variant BRCA-EU 20 34236053 34236053 single base substitution G A intron_variant BRCA-EU 20 34237118 34237118 single base substitution T C intron_variant BRCA-EU 20 34237428 34237428 single base substitution C A intron_variant BRCA-EU 20 34238324 34238324 single base substitution C T intron_variant BRCA-EU 20 34238334 34238334 single base substitution C A intron_variant BRCA-EU 20 34238381 34238381 single base substitution C T intron_variant BRCA-EU 20 34238674 34238674 single base substitution C G intron_variant BRCA-EU 20 34238695 34238699 deletion of <=200bp TTAAA - intron_variant BRCA-EU 20 34239216 34239216 single base substitution A C intron_variant BRCA-EU 20 34240837 34240837 single base substitution G A intron_variant BRCA-EU 20 34241287 34241287 single base substitution G T intron_variant BRCA-EU 20 34242955 34242955 single base substitution A G downstream_gene_variant BRCA-EU 20 34242955 34242955 single base substitution A G intron_variant BRCA-EU 20 34242955 34242955 single base substitution A G upstream_gene_variant BRCA-EU 20 34244188 34244188 single base substitution C T downstream_gene_variant BRCA-EU 20 34244188 34244188 single base substitution C T intron_variant BRCA-EU 20 34244188 34244188 single base substitution C T upstream_gene_variant BRCA-EU 20 34244240 34244240 single base substitution A C downstream_gene_variant BRCA-EU 20 34244240 34244240 single base substitution A C intron_variant BRCA-EU 20 34244240 34244240 single base substitution A C upstream_gene_variant BRCA-EU 20 34244252 34244252 single base substitution C T downstream_gene_variant BRCA-EU 20 34244252 34244252 single base substitution C T intron_variant BRCA-EU 20 34244252 34244252 single base substitution C T upstream_gene_variant BRCA-EU 20 34246478 34246478 single base substitution C G downstream_gene_variant BRCA-EU 20 34246478 34246478 single base substitution C G intron_variant BRCA-EU 20 34246478 34246478 single base substitution C G upstream_gene_variant BRCA-EU 20 34246707 34246707 single base substitution A G downstream_gene_variant BRCA-EU 20 34246707 34246707 single base substitution A G intron_variant BRCA-EU 20 34247587 34247591 deletion of <=200bp AAATA - intron_variant BRCA-EU 20 34247792 34247792 single base substitution C T intron_variant BRCA-EU 20 34248325 34248325 single base substitution G C intron_variant BRCA-EU 20 34249004 34249004 single base substitution G A intron_variant BRCA-EU 20 34249149 34249149 single base substitution G A intron_variant BRCA-EU 20 34249625 34249625 single base substitution C G intron_variant BRCA-EU 20 34249849 34249849 single base substitution G C intron_variant BRCA-EU 20 34250069 34250071 deletion of <=200bp ATT - intron_variant BRCA-EU 20 34250247 34250247 single base substitution T C intron_variant BRCA-EU 20 34250831 34250831 single base substitution C G intron_variant BRCA-EU 20 34252449 34252449 single base substitution T C 5_prime_UTR_variant BRCA-EU 20 34252449 34252449 single base substitution T C exon_variant BRCA-EU 20 34252449 34252449 single base substitution T C intron_variant BRCA-EU 20 34254081 34254081 single base substitution G A upstream_gene_variant BRCA-EU 20 34254996 34254996 single base substitution C A upstream_gene_variant BRCA-EU 20 34255313 34255313 single base substitution C T upstream_gene_variant BRCA-EU 20 34256595 34256595 single base substitution C G upstream_gene_variant BRCA-EU 20 34257666 34257666 single base substitution G A upstream_gene_variant BRCA-FR 20 34217713 34217713 single base substitution T C downstream_gene_variant BRCA-FR 20 34217713 34217713 single base substitution T C intron_variant BRCA-FR 20 34217713 34217713 single base substitution T C upstream_gene_variant BRCA-FR 20 34221023 34221023 single base substitution G A intron_variant BRCA-FR 20 34221023 34221023 single base substitution G A upstream_gene_variant BRCA-FR 20 34225087 34225087 single base substitution T A intron_variant BRCA-FR 20 34225087 34225087 single base substitution T A upstream_gene_variant BRCA-FR 20 34227368 34227368 single base substitution C G intron_variant BRCA-FR 20 34244240 34244240 single base substitution A C downstream_gene_variant BRCA-FR 20 34244240 34244240 single base substitution A C intron_variant BRCA-FR 20 34244240 34244240 single base substitution A C upstream_gene_variant BRCA-FR 20 34244252 34244252 single base substitution C T downstream_gene_variant BRCA-FR 20 34244252 34244252 single base substitution C T intron_variant BRCA-FR 20 34244252 34244252 single base substitution C T upstream_gene_variant BRCA-FR 20 34250831 34250831 single base substitution C G intron_variant BRCA-FR 20 34252919 34252919 single base substitution G A upstream_gene_variant BRCA-FR 20 34255007 34255007 single base substitution A C upstream_gene_variant BRCA-FR 20 34256553 34256553 single base substitution G A upstream_gene_variant BRCA-UK 20 34209838 34209838 single base substitution G C downstream_gene_variant BRCA-UK 20 34220296 34220296 single base substitution G C downstream_gene_variant BRCA-UK 20 34220296 34220296 single base substitution G C exon_variant BRCA-UK 20 34220296 34220296 single base substitution G C missense_variant S107R 321C>G BRCA-UK 20 34220296 34220296 single base substitution G C missense_variant S112R 336C>G BRCA-UK 20 34220296 34220296 single base substitution G C upstream_gene_variant BRCA-UK 20 34226371 34226371 single base substitution G A intron_variant BRCA-UK 20 34231931 34231931 single base substitution G C intron_variant BRCA-UK 20 34240901 34240901 single base substitution G A intron_variant BRCA-UK 20 34248325 34248325 single base substitution G C intron_variant BRCA-UK 20 34257666 34257666 single base substitution G A upstream_gene_variant BRCA-US 20 34214714 34214714 single base substitution C T downstream_gene_variant BRCA-US 20 34214714 34214714 single base substitution C T exon_variant BRCA-US 20 34214714 34214714 single base substitution C T missense_variant M415I 1245G>A BRCA-US 20 34214714 34214714 single base substitution C T missense_variant M416I 1248G>A BRCA-US 20 34214714 34214714 single base substitution C T missense_variant M421I 1263G>A BRCA-US 20 34214714 34214714 single base substitution C T missense_variant M54I 162G>A BRCA-US 20 34218833 34218833 single base substitution C T downstream_gene_variant BRCA-US 20 34218833 34218833 single base substitution C T exon_variant BRCA-US 20 34218833 34218833 single base substitution C T missense_variant D305N 913G>A BRCA-US 20 34218833 34218833 single base substitution C T missense_variant D329N 985G>A BRCA-US 20 34218833 34218833 single base substitution C T missense_variant D334N 1000G>A BRCA-US 20 34218833 34218833 single base substitution C T upstream_gene_variant BRCA-US 20 34240663 34240663 single base substitution T A intron_variant BRCA-US 20 34241075 34241075 single base substitution G A intron_variant BRCA-US 20 34241693 34241693 single base substitution G A intron_variant BRCA-US 20 34241693 34241693 single base substitution G A upstream_gene_variant BRCA-US 20 34241980 34241980 single base substitution G C downstream_gene_variant BRCA-US 20 34241980 34241980 single base substitution G C intron_variant BRCA-US 20 34241980 34241980 single base substitution G C upstream_gene_variant BRCA-US 20 34242060 34242060 single base substitution C T downstream_gene_variant BRCA-US 20 34242060 34242060 single base substitution C T intron_variant BRCA-US 20 34242060 34242060 single base substitution C T upstream_gene_variant BRCA-US 20 34242344 34242344 single base substitution G T downstream_gene_variant BRCA-US 20 34242344 34242344 single base substitution G T intron_variant BRCA-US 20 34242344 34242344 single base substitution G T upstream_gene_variant BRCA-US 20 34242528 34242528 single base substitution T G downstream_gene_variant BRCA-US 20 34242528 34242528 single base substitution T G intron_variant BRCA-US 20 34242528 34242528 single base substitution T G upstream_gene_variant BRCA-US 20 34242645 34242645 single base substitution T G downstream_gene_variant BRCA-US 20 34242645 34242645 single base substitution T G intron_variant BRCA-US 20 34242645 34242645 single base substitution T G upstream_gene_variant BRCA-US 20 34242681 34242681 single base substitution T G downstream_gene_variant BRCA-US 20 34242681 34242681 single base substitution T G intron_variant BRCA-US 20 34242681 34242681 single base substitution T G upstream_gene_variant BTCA-JP 20 34214668 34214668 single base substitution G A 3_prime_UTR_variant BTCA-JP 20 34214668 34214668 single base substitution G A downstream_gene_variant BTCA-JP 20 34214668 34214668 single base substitution G A exon_variant BTCA-JP 20 34214668 34214668 single base substitution G A missense_variant R431C 1291C>T BTCA-JP 20 34214668 34214668 single base substitution G A missense_variant R432C 1294C>T BTCA-JP 20 34214668 34214668 single base substitution G A missense_variant R437C 1309C>T BTCA-JP 20 34214668 34214668 single base substitution G A missense_variant R70C 208C>T BTCA-JP 20 34219581 34219581 single base substitution G A downstream_gene_variant BTCA-JP 20 34219581 34219581 single base substitution G A intron_variant BTCA-JP 20 34219581 34219581 single base substitution G A upstream_gene_variant BTCA-JP 20 34241777 34241777 single base substitution G A intron_variant BTCA-JP 20 34241777 34241777 single base substitution G A upstream_gene_variant BTCA-JP 20 34241828 34241828 single base substitution C A intron_variant BTCA-JP 20 34241828 34241828 single base substitution C A upstream_gene_variant BTCA-JP 20 34241958 34241958 single base substitution A C downstream_gene_variant BTCA-JP 20 34241958 34241958 single base substitution A C intron_variant BTCA-JP 20 34241958 34241958 single base substitution A C upstream_gene_variant BTCA-JP 20 34242036 34242036 single base substitution G A downstream_gene_variant BTCA-JP 20 34242036 34242036 single base substitution G A intron_variant BTCA-JP 20 34242036 34242036 single base substitution G A upstream_gene_variant BTCA-JP 20 34242263 34242263 single base substitution G A downstream_gene_variant BTCA-JP 20 34242263 34242263 single base substitution G A intron_variant BTCA-JP 20 34242263 34242263 single base substitution G A upstream_gene_variant BTCA-JP 20 34246754 34246754 single base substitution C T downstream_gene_variant BTCA-JP 20 34246754 34246754 single base substitution C T intron_variant BTCA-JP 20 34257570 34257570 single base substitution T C upstream_gene_variant CESC-US 20 34213974 34213974 single base substitution C T 3_prime_UTR_variant CESC-US 20 34213974 34213974 single base substitution C T downstream_gene_variant CESC-US 20 34213974 34213974 single base substitution C T exon_variant CESC-US 20 34219869 34219869 single base substitution C T downstream_gene_variant CESC-US 20 34219869 34219869 single base substitution C T missense_variant E155K 463G>A CESC-US 20 34219869 34219869 single base substitution C T missense_variant E179K 535G>A CESC-US 20 34219869 34219869 single base substitution C T missense_variant E184K 550G>A CESC-US 20 34219869 34219869 single base substitution C T splice_region_variant CESC-US 20 34219869 34219869 single base substitution C T upstream_gene_variant CESC-US 20 34241792 34241792 single base substitution T G intron_variant CESC-US 20 34241792 34241792 single base substitution T G upstream_gene_variant CESC-US 20 34242510 34242510 single base substitution C T downstream_gene_variant CESC-US 20 34242510 34242510 single base substitution C T intron_variant CESC-US 20 34242510 34242510 single base substitution C T upstream_gene_variant CLLE-ES 20 34223285 34223285 single base substitution C T intron_variant CLLE-ES 20 34223285 34223285 single base substitution C T upstream_gene_variant CLLE-ES 20 34234193 34234193 single base substitution A G intron_variant CLLE-ES 20 34249246 34249246 single base substitution T C intron_variant COAD-US 20 34214666 34214666 single base substitution A T 3_prime_UTR_variant COAD-US 20 34214666 34214666 single base substitution A T downstream_gene_variant COAD-US 20 34214666 34214666 single base substitution A T exon_variant COAD-US 20 34214666 34214666 single base substitution A T synonymous_variant R431R 1293T>A COAD-US 20 34214666 34214666 single base substitution A T synonymous_variant R432R 1296T>A COAD-US 20 34214666 34214666 single base substitution A T synonymous_variant R437R 1311T>A COAD-US 20 34214666 34214666 single base substitution A T synonymous_variant R70R 210T>A COAD-US 20 34240586 34240586 single base substitution A G intron_variant COAD-US 20 34240740 34240740 insertion of <=200bp - GGGCCG intron_variant COAD-US 20 34240746 34240746 single base substitution G A intron_variant COAD-US 20 34240795 34240795 single base substitution C T intron_variant COAD-US 20 34240876 34240876 single base substitution T G intron_variant COAD-US 20 34241725 34241725 single base substitution T C intron_variant COAD-US 20 34241725 34241725 single base substitution T C upstream_gene_variant COAD-US 20 34242084 34242084 single base substitution G A downstream_gene_variant COAD-US 20 34242084 34242084 single base substitution G A intron_variant COAD-US 20 34242084 34242084 single base substitution G A upstream_gene_variant COAD-US 20 34242570 34242570 single base substitution C T downstream_gene_variant COAD-US 20 34242570 34242570 single base substitution C T intron_variant COAD-US 20 34242570 34242570 single base substitution C T upstream_gene_variant COCA-CN 20 34214908 34214908 single base substitution G A downstream_gene_variant COCA-CN 20 34214908 34214908 single base substitution G A intron_variant COCA-CN 20 34214908 34214908 single base substitution G A upstream_gene_variant COCA-CN 20 34215139 34215139 single base substitution G T downstream_gene_variant COCA-CN 20 34215139 34215139 single base substitution G T intron_variant COCA-CN 20 34215139 34215139 single base substitution G T upstream_gene_variant COCA-CN 20 34218971 34218971 single base substitution G T downstream_gene_variant COCA-CN 20 34218971 34218971 single base substitution G T intron_variant COCA-CN 20 34218971 34218971 single base substitution G T upstream_gene_variant COCA-CN 20 34220341 34220341 single base substitution A T downstream_gene_variant COCA-CN 20 34220341 34220341 single base substitution A T intron_variant COCA-CN 20 34220341 34220341 single base substitution A T upstream_gene_variant COCA-CN 20 34220603 34220603 single base substitution G A exon_variant COCA-CN 20 34220603 34220603 single base substitution G A missense_variant R49W 145C>T COCA-CN 20 34220603 34220603 single base substitution G A missense_variant R54W 160C>T COCA-CN 20 34220603 34220603 single base substitution G A upstream_gene_variant COCA-CN 20 34240481 34240481 single base substitution T C intron_variant COCA-CN 20 34241438 34241438 single base substitution G A intron_variant COCA-CN 20 34241677 34241677 single base substitution T C intron_variant COCA-CN 20 34241677 34241677 single base substitution T C upstream_gene_variant COCA-CN 20 34241693 34241693 single base substitution G A intron_variant COCA-CN 20 34241693 34241693 single base substitution G A upstream_gene_variant COCA-CN 20 34242278 34242278 single base substitution A T downstream_gene_variant COCA-CN 20 34242278 34242278 single base substitution A T intron_variant COCA-CN 20 34242278 34242278 single base substitution A T upstream_gene_variant COCA-CN 20 34243113 34243113 single base substitution G T downstream_gene_variant COCA-CN 20 34243113 34243113 single base substitution G T intron_variant COCA-CN 20 34243113 34243113 single base substitution G T upstream_gene_variant COCA-CN 20 34247074 34247074 single base substitution A G intron_variant COCA-CN 20 34247151 34247151 single base substitution A T intron_variant COCA-CN 20 34257470 34257470 single base substitution A G upstream_gene_variant ESAD-UK 20 34208968 34208968 single base substitution T C downstream_gene_variant ESAD-UK 20 34212156 34212156 single base substitution C G downstream_gene_variant ESAD-UK 20 34214764 34214764 single base substitution C A downstream_gene_variant ESAD-UK 20 34214764 34214764 single base substitution C A exon_variant ESAD-UK 20 34214764 34214764 single base substitution C A intron_variant ESAD-UK 20 34218293 34218293 single base substitution T G downstream_gene_variant ESAD-UK 20 34218293 34218293 single base substitution T G intron_variant ESAD-UK 20 34218293 34218293 single base substitution T G upstream_gene_variant ESAD-UK 20 34219403 34219403 single base substitution C G downstream_gene_variant ESAD-UK 20 34219403 34219403 single base substitution C G intron_variant ESAD-UK 20 34219403 34219403 single base substitution C G upstream_gene_variant ESAD-UK 20 34220791 34220791 single base substitution C G exon_variant ESAD-UK 20 34220791 34220791 single base substitution C G missense_variant D19H 55G>C ESAD-UK 20 34220791 34220791 single base substitution C G missense_variant D24H 70G>C ESAD-UK 20 34220791 34220791 single base substitution C G upstream_gene_variant ESAD-UK 20 34221830 34221830 single base substitution G A intron_variant ESAD-UK 20 34221830 34221830 single base substitution G A upstream_gene_variant ESAD-UK 20 34222537 34222537 single base substitution A G intron_variant ESAD-UK 20 34222537 34222537 single base substitution A G upstream_gene_variant ESAD-UK 20 34222955 34222955 single base substitution A C intron_variant ESAD-UK 20 34222955 34222955 single base substitution A C upstream_gene_variant ESAD-UK 20 34222956 34222956 single base substitution C A intron_variant ESAD-UK 20 34222956 34222956 single base substitution C A upstream_gene_variant ESAD-UK 20 34227144 34227144 single base substitution G A intron_variant ESAD-UK 20 34231615 34231615 single base substitution C T intron_variant ESAD-UK 20 34233730 34233730 single base substitution G A intron_variant ESAD-UK 20 34239657 34239657 single base substitution C T intron_variant ESAD-UK 20 34242831 34242831 single base substitution A C downstream_gene_variant ESAD-UK 20 34242831 34242831 single base substitution A C intron_variant ESAD-UK 20 34242831 34242831 single base substitution A C upstream_gene_variant ESAD-UK 20 34243340 34243340 single base substitution C A downstream_gene_variant ESAD-UK 20 34243340 34243340 single base substitution C A intron_variant ESAD-UK 20 34243340 34243340 single base substitution C A upstream_gene_variant ESAD-UK 20 34243527 34243527 single base substitution C G downstream_gene_variant ESAD-UK 20 34243527 34243527 single base substitution C G intron_variant ESAD-UK 20 34243527 34243527 single base substitution C G upstream_gene_variant ESAD-UK 20 34245161 34245161 deletion of <=200bp A - downstream_gene_variant ESAD-UK 20 34245161 34245161 deletion of <=200bp A - intron_variant ESAD-UK 20 34245161 34245161 deletion of <=200bp A - upstream_gene_variant ESAD-UK 20 34245250 34245250 single base substitution A C downstream_gene_variant ESAD-UK 20 34245250 34245250 single base substitution A C intron_variant ESAD-UK 20 34245250 34245250 single base substitution A C upstream_gene_variant ESAD-UK 20 34246721 34246722 deletion of <=200bp AA - downstream_gene_variant ESAD-UK 20 34246721 34246722 deletion of <=200bp AA - intron_variant ESAD-UK 20 34255218 34255218 single base substitution C T upstream_gene_variant ESAD-UK 20 34256652 34256652 single base substitution C G upstream_gene_variant ESAD-UK 20 34256764 34256764 single base substitution C T upstream_gene_variant ESCA-CN 20 34241013 34241013 single base substitution G A intron_variant ESCA-CN 20 34242424 34242424 single base substitution G T downstream_gene_variant ESCA-CN 20 34242424 34242424 single base substitution G T intron_variant ESCA-CN 20 34242424 34242424 single base substitution G T upstream_gene_variant KIRC-US 20 34214664 34214664 single base substitution T G 3_prime_UTR_variant KIRC-US 20 34214664 34214664 single base substitution T G downstream_gene_variant KIRC-US 20 34214664 34214664 single base substitution T G exon_variant KIRC-US 20 34214664 34214664 single base substitution T G missense_variant E432A 1295A>C KIRC-US 20 34214664 34214664 single base substitution T G missense_variant E433A 1298A>C KIRC-US 20 34214664 34214664 single base substitution T G missense_variant E438A 1313A>C KIRC-US 20 34214664 34214664 single base substitution T G missense_variant E71A 212A>C KIRC-US 20 34219486 34219486 single base substitution A G 3_prime_UTR_variant KIRC-US 20 34219486 34219486 single base substitution A G downstream_gene_variant KIRC-US 20 34219486 34219486 single base substitution A G exon_variant KIRC-US 20 34219486 34219486 single base substitution A G synonymous_variant D190D 570T>C KIRC-US 20 34219486 34219486 single base substitution A G synonymous_variant D214D 642T>C KIRC-US 20 34219486 34219486 single base substitution A G synonymous_variant D219D 657T>C KIRC-US 20 34219486 34219486 single base substitution A G upstream_gene_variant KIRC-US 20 34242653 34242653 single base substitution A G downstream_gene_variant KIRC-US 20 34242653 34242653 single base substitution A G intron_variant KIRC-US 20 34242653 34242653 single base substitution A G upstream_gene_variant KIRP-US 20 34215310 34215310 single base substitution G T downstream_gene_variant KIRP-US 20 34215310 34215310 single base substitution G T exon_variant KIRP-US 20 34215310 34215310 single base substitution G T stop_gained Y14* 42C>A KIRP-US 20 34215310 34215310 single base substitution G T stop_gained Y352* 1056C>A KIRP-US 20 34215310 34215310 single base substitution G T stop_gained Y376* 1128C>A KIRP-US 20 34215310 34215310 single base substitution G T stop_gained Y381* 1143C>A KIRP-US 20 34215310 34215310 single base substitution G T upstream_gene_variant LICA-CN 20 34218932 34218932 single base substitution T A downstream_gene_variant LICA-CN 20 34218932 34218932 single base substitution T A exon_variant LICA-CN 20 34218932 34218932 single base substitution T A missense_variant N272Y 814A>T LICA-CN 20 34218932 34218932 single base substitution T A missense_variant N296Y 886A>T LICA-CN 20 34218932 34218932 single base substitution T A missense_variant N301Y 901A>T LICA-CN 20 34218932 34218932 single base substitution T A upstream_gene_variant LICA-CN 20 34241407 34241407 single base substitution T G intron_variant LICA-CN 20 34241699 34241699 single base substitution T C intron_variant LICA-CN 20 34241699 34241699 single base substitution T C upstream_gene_variant LICA-FR 20 34209301 34209301 single base substitution T A downstream_gene_variant LICA-FR 20 34210576 34210576 single base substitution T C downstream_gene_variant LICA-FR 20 34218685 34218685 single base substitution G A downstream_gene_variant LICA-FR 20 34218685 34218685 single base substitution G A exon_variant LICA-FR 20 34218685 34218685 single base substitution G A missense_variant A319V 956C>T LICA-FR 20 34218685 34218685 single base substitution G A missense_variant A343V 1028C>T LICA-FR 20 34218685 34218685 single base substitution G A missense_variant A348V 1043C>T LICA-FR 20 34218685 34218685 single base substitution G A upstream_gene_variant LICA-FR 20 34219609 34219609 single base substitution C T downstream_gene_variant LICA-FR 20 34219609 34219609 single base substitution C T splice_donor_variant LICA-FR 20 34219609 34219609 single base substitution C T upstream_gene_variant LICA-FR 20 34223594 34223594 single base substitution C T intron_variant LICA-FR 20 34223594 34223594 single base substitution C T upstream_gene_variant LICA-FR 20 34224360 34224360 single base substitution G A intron_variant LICA-FR 20 34224360 34224360 single base substitution G A upstream_gene_variant LICA-FR 20 34225660 34225660 single base substitution T C intron_variant LICA-FR 20 34235259 34235259 single base substitution G A intron_variant LICA-FR 20 34238964 34238964 single base substitution T C intron_variant LICA-FR 20 34239539 34239539 single base substitution A G intron_variant LICA-FR 20 34242823 34242823 single base substitution T A downstream_gene_variant LICA-FR 20 34242823 34242823 single base substitution T A intron_variant LICA-FR 20 34242823 34242823 single base substitution T A upstream_gene_variant LIHC-US 20 34220601 34220601 single base substitution C A exon_variant LIHC-US 20 34220601 34220601 single base substitution C A synonymous_variant R49R 147G>T LIHC-US 20 34220601 34220601 single base substitution C A synonymous_variant R54R 162G>T LIHC-US 20 34220601 34220601 single base substitution C A upstream_gene_variant LIHC-US 20 34241969 34241969 single base substitution G T downstream_gene_variant LIHC-US 20 34241969 34241969 single base substitution G T intron_variant LIHC-US 20 34241969 34241969 single base substitution G T upstream_gene_variant LIHC-US 20 34242510 34242510 single base substitution C T downstream_gene_variant LIHC-US 20 34242510 34242510 single base substitution C T intron_variant LIHC-US 20 34242510 34242510 single base substitution C T upstream_gene_variant LINC-JP 20 34216611 34216611 single base substitution T C downstream_gene_variant LINC-JP 20 34216611 34216611 single base substitution T C intron_variant LINC-JP 20 34216611 34216611 single base substitution T C upstream_gene_variant LINC-JP 20 34218448 34218448 single base substitution T C downstream_gene_variant LINC-JP 20 34218448 34218448 single base substitution T C exon_variant LINC-JP 20 34218448 34218448 single base substitution T C intron_variant LINC-JP 20 34218448 34218448 single base substitution T C upstream_gene_variant LINC-JP 20 34218709 34218709 single base substitution A C downstream_gene_variant LINC-JP 20 34218709 34218709 single base substitution A C exon_variant LINC-JP 20 34218709 34218709 single base substitution A C missense_variant L311R 932T>G LINC-JP 20 34218709 34218709 single base substitution A C missense_variant L335R 1004T>G LINC-JP 20 34218709 34218709 single base substitution A C missense_variant L340R 1019T>G LINC-JP 20 34218709 34218709 single base substitution A C upstream_gene_variant LINC-JP 20 34231510 34231510 single base substitution C T intron_variant LINC-JP 20 34234939 34234939 insertion of <=200bp - A intron_variant LINC-JP 20 34240741 34240752 deletion of <=200bp GGGCCGGGGCCG - intron_variant LINC-JP 20 34241257 34241257 single base substitution G C intron_variant LINC-JP 20 34247135 34247135 single base substitution T C intron_variant LINC-JP 20 34249575 34249575 insertion of <=200bp - A intron_variant LINC-JP 20 34256580 34256580 single base substitution T A upstream_gene_variant LIRI-JP 20 34210089 34210089 single base substitution G A downstream_gene_variant LIRI-JP 20 34211584 34211584 single base substitution C T downstream_gene_variant LIRI-JP 20 34216064 34216064 single base substitution G A downstream_gene_variant LIRI-JP 20 34216064 34216064 single base substitution G A intron_variant LIRI-JP 20 34216064 34216064 single base substitution G A upstream_gene_variant LIRI-JP 20 34218446 34218446 single base substitution C T downstream_gene_variant LIRI-JP 20 34218446 34218446 single base substitution C T exon_variant LIRI-JP 20 34218446 34218446 single base substitution C T intron_variant LIRI-JP 20 34218446 34218446 single base substitution C T upstream_gene_variant LIRI-JP 20 34219664 34219664 single base substitution A G 3_prime_UTR_variant LIRI-JP 20 34219664 34219664 single base substitution A G downstream_gene_variant LIRI-JP 20 34219664 34219664 single base substitution A G exon_variant LIRI-JP 20 34219664 34219664 single base substitution A G synonymous_variant R167R 501T>C LIRI-JP 20 34219664 34219664 single base substitution A G synonymous_variant R191R 573T>C LIRI-JP 20 34219664 34219664 single base substitution A G synonymous_variant R196R 588T>C LIRI-JP 20 34219664 34219664 single base substitution A G upstream_gene_variant LIRI-JP 20 34219757 34219757 single base substitution C A downstream_gene_variant LIRI-JP 20 34219757 34219757 single base substitution C A intron_variant LIRI-JP 20 34219757 34219757 single base substitution C A upstream_gene_variant LIRI-JP 20 34219911 34219911 single base substitution A T 3_prime_UTR_variant LIRI-JP 20 34219911 34219911 single base substitution A T downstream_gene_variant LIRI-JP 20 34219911 34219911 single base substitution A T exon_variant LIRI-JP 20 34219911 34219911 single base substitution A T missense_variant F141I 421T>A LIRI-JP 20 34219911 34219911 single base substitution A T missense_variant F165I 493T>A LIRI-JP 20 34219911 34219911 single base substitution A T missense_variant F170I 508T>A LIRI-JP 20 34219911 34219911 single base substitution A T upstream_gene_variant LIRI-JP 20 34220346 34220346 single base substitution C A downstream_gene_variant LIRI-JP 20 34220346 34220346 single base substitution C A intron_variant LIRI-JP 20 34220346 34220346 single base substitution C A upstream_gene_variant LIRI-JP 20 34222950 34222950 single base substitution C T intron_variant LIRI-JP 20 34222950 34222950 single base substitution C T upstream_gene_variant LIRI-JP 20 34223285 34223285 single base substitution C G intron_variant LIRI-JP 20 34223285 34223285 single base substitution C G upstream_gene_variant LIRI-JP 20 34224410 34224410 single base substitution T C intron_variant LIRI-JP 20 34224410 34224410 single base substitution T C upstream_gene_variant LIRI-JP 20 34224630 34224630 single base substitution T C intron_variant LIRI-JP 20 34224630 34224630 single base substitution T C upstream_gene_variant LIRI-JP 20 34225873 34225873 single base substitution T C intron_variant LIRI-JP 20 34226208 34226208 single base substitution G T intron_variant LIRI-JP 20 34226698 34226698 single base substitution T C intron_variant LIRI-JP 20 34227874 34227874 single base substitution A C intron_variant LIRI-JP 20 34227877 34227877 single base substitution C G intron_variant LIRI-JP 20 34228879 34228879 single base substitution T C intron_variant LIRI-JP 20 34229481 34229481 single base substitution T C intron_variant LIRI-JP 20 34230416 34230416 single base substitution T C intron_variant LIRI-JP 20 34233099 34233099 single base substitution A G intron_variant LIRI-JP 20 34237058 34237058 single base substitution T C intron_variant LIRI-JP 20 34238085 34238085 single base substitution T A intron_variant LIRI-JP 20 34239239 34239239 single base substitution G C intron_variant LIRI-JP 20 34239640 34239640 single base substitution T C intron_variant LIRI-JP 20 34239653 34239653 single base substitution T C intron_variant LIRI-JP 20 34240644 34240644 single base substitution C T intron_variant LIRI-JP 20 34245090 34245090 single base substitution C T downstream_gene_variant LIRI-JP 20 34245090 34245090 single base substitution C T intron_variant LIRI-JP 20 34245090 34245090 single base substitution C T upstream_gene_variant LIRI-JP 20 34245104 34245104 single base substitution A T downstream_gene_variant LIRI-JP 20 34245104 34245104 single base substitution A T intron_variant LIRI-JP 20 34245104 34245104 single base substitution A T upstream_gene_variant LIRI-JP 20 34246382 34246388 deletion of <=200bp AACTTGT - downstream_gene_variant LIRI-JP 20 34246382 34246388 deletion of <=200bp AACTTGT - intron_variant LIRI-JP 20 34246382 34246388 deletion of <=200bp AACTTGT - upstream_gene_variant LIRI-JP 20 34246829 34246829 single base substitution A C downstream_gene_variant LIRI-JP 20 34246829 34246829 single base substitution A C intron_variant LIRI-JP 20 34248409 34248409 single base substitution G C intron_variant LIRI-JP 20 34248845 34248845 single base substitution T C intron_variant LIRI-JP 20 34249438 34249438 single base substitution T A intron_variant LIRI-JP 20 34249475 34249475 single base substitution A G intron_variant LIRI-JP 20 34250655 34250655 single base substitution A T intron_variant LIRI-JP 20 34252798 34252798 single base substitution C T 5_prime_UTR_variant LIRI-JP 20 34252798 34252798 single base substitution C T exon_variant LIRI-JP 20 34252798 34252798 single base substitution C T intron_variant LIRI-JP 20 34252798 34252798 single base substitution C T upstream_gene_variant LIRI-JP 20 34255012 34255012 single base substitution C A upstream_gene_variant LUSC-KR 20 34210573 34210573 single base substitution G C downstream_gene_variant LUSC-KR 20 34212206 34212206 single base substitution C G downstream_gene_variant LUSC-KR 20 34213592 34213592 single base substitution C A downstream_gene_variant LUSC-KR 20 34226986 34226986 single base substitution G C intron_variant LUSC-KR 20 34228260 34228260 single base substitution C A intron_variant LUSC-KR 20 34232258 34232258 single base substitution G A intron_variant LUSC-KR 20 34234330 34234330 single base substitution G T intron_variant LUSC-KR 20 34238825 34238825 single base substitution T G intron_variant LUSC-KR 20 34241179 34241179 single base substitution C G intron_variant LUSC-KR 20 34246769 34246769 single base substitution T C downstream_gene_variant LUSC-KR 20 34246769 34246769 single base substitution T C intron_variant LUSC-KR 20 34247007 34247007 single base substitution T A intron_variant LUSC-KR 20 34253598 34253598 single base substitution C T upstream_gene_variant LUSC-KR 20 34253806 34253806 single base substitution G A upstream_gene_variant LUSC-KR 20 34254140 34254140 single base substitution C A upstream_gene_variant LUSC-KR 20 34254521 34254521 single base substitution C A upstream_gene_variant LUSC-KR 20 34255547 34255547 single base substitution T C upstream_gene_variant LUSC-KR 20 34255622 34255622 single base substitution G A upstream_gene_variant LUSC-US 20 34219078 34219078 single base substitution G A downstream_gene_variant LUSC-US 20 34219078 34219078 single base substitution G A exon_variant LUSC-US 20 34219078 34219078 single base substitution G A synonymous_variant S249S 747C>T LUSC-US 20 34219078 34219078 single base substitution G A synonymous_variant S273S 819C>T LUSC-US 20 34219078 34219078 single base substitution G A synonymous_variant S278S 834C>T LUSC-US 20 34219078 34219078 single base substitution G A upstream_gene_variant LUSC-US 20 34240637 34240637 single base substitution C G intron_variant LUSC-US 20 34240640 34240640 single base substitution T C intron_variant LUSC-US 20 34241396 34241396 single base substitution G A intron_variant LUSC-US 20 34241817 34241817 single base substitution T C intron_variant LUSC-US 20 34241817 34241817 single base substitution T C upstream_gene_variant LUSC-US 20 34242587 34242587 single base substitution C A downstream_gene_variant LUSC-US 20 34242587 34242587 single base substitution C A intron_variant LUSC-US 20 34242587 34242587 single base substitution C A upstream_gene_variant LUSC-US 20 34242934 34242934 single base substitution C A downstream_gene_variant LUSC-US 20 34242934 34242934 single base substitution C A intron_variant LUSC-US 20 34242934 34242934 single base substitution C A upstream_gene_variant MALY-DE 20 34209757 34209757 single base substitution C T downstream_gene_variant MALY-DE 20 34224494 34224494 single base substitution G A intron_variant MALY-DE 20 34224494 34224494 single base substitution G A upstream_gene_variant MALY-DE 20 34228777 34228778 deletion of <=200bp GA - intron_variant MALY-DE 20 34229194 34229194 single base substitution G T intron_variant MALY-DE 20 34232708 34232708 single base substitution A C intron_variant MALY-DE 20 34236099 34236099 insertion of <=200bp - T intron_variant MALY-DE 20 34236769 34236769 single base substitution A C intron_variant MALY-DE 20 34237706 34237706 insertion of <=200bp - A intron_variant MALY-DE 20 34241050 34241050 single base substitution G T intron_variant MALY-DE 20 34252306 34252306 single base substitution A C 5_prime_UTR_variant MALY-DE 20 34252306 34252306 single base substitution A C exon_variant MALY-DE 20 34252306 34252306 single base substitution A C intron_variant MALY-DE 20 34252531 34252531 single base substitution A G exon_variant MALY-DE 20 34252531 34252531 single base substitution A G intron_variant MALY-DE 20 34252531 34252531 single base substitution A G upstream_gene_variant MALY-DE 20 34253040 34253040 single base substitution T C upstream_gene_variant MELA-AU 20 34209603 34209603 single base substitution G A downstream_gene_variant MELA-AU 20 34209687 34209687 single base substitution G A downstream_gene_variant MELA-AU 20 34209889 34209889 single base substitution A G downstream_gene_variant MELA-AU 20 34210113 34210113 single base substitution T C downstream_gene_variant MELA-AU 20 34210600 34210612 deletion of <=200bp ATTTATAAGGAAA - downstream_gene_variant MELA-AU 20 34210705 34210705 single base substitution G A downstream_gene_variant MELA-AU 20 34211232 34211232 single base substitution G A downstream_gene_variant MELA-AU 20 34211467 34211467 single base substitution G A downstream_gene_variant MELA-AU 20 34211805 34211805 single base substitution T C downstream_gene_variant MELA-AU 20 34212223 34212223 single base substitution G A downstream_gene_variant MELA-AU 20 34212449 34212449 single base substitution A C downstream_gene_variant MELA-AU 20 34212817 34212817 single base substitution G A downstream_gene_variant MELA-AU 20 34214016 34214016 single base substitution G A 3_prime_UTR_variant MELA-AU 20 34214016 34214016 single base substitution G A downstream_gene_variant MELA-AU 20 34214016 34214016 single base substitution G A exon_variant MELA-AU 20 34214138 34214138 single base substitution G A 3_prime_UTR_variant MELA-AU 20 34214138 34214138 single base substitution G A downstream_gene_variant MELA-AU 20 34214138 34214138 single base substitution G A exon_variant MELA-AU 20 34214138 34214138 single base substitution G A missense_variant S186F 557C>T MELA-AU 20 34214159 34214159 single base substitution G A 3_prime_UTR_variant MELA-AU 20 34214159 34214159 single base substitution G A downstream_gene_variant MELA-AU 20 34214159 34214159 single base substitution G A exon_variant MELA-AU 20 34214159 34214159 single base substitution G A missense_variant S179F 536C>T MELA-AU 20 34215061 34215061 single base substitution G T downstream_gene_variant MELA-AU 20 34215061 34215061 single base substitution G T intron_variant MELA-AU 20 34215061 34215061 single base substitution G T upstream_gene_variant MELA-AU 20 34215529 34215529 single base substitution C T downstream_gene_variant MELA-AU 20 34215529 34215529 single base substitution C T intron_variant MELA-AU 20 34215529 34215529 single base substitution C T upstream_gene_variant MELA-AU 20 34215608 34215608 single base substitution A G downstream_gene_variant MELA-AU 20 34215608 34215608 single base substitution A G intron_variant MELA-AU 20 34215608 34215608 single base substitution A G upstream_gene_variant MELA-AU 20 34215923 34215923 single base substitution G A downstream_gene_variant MELA-AU 20 34215923 34215923 single base substitution G A intron_variant MELA-AU 20 34215923 34215923 single base substitution G A upstream_gene_variant MELA-AU 20 34216041 34216041 single base substitution A G downstream_gene_variant MELA-AU 20 34216041 34216041 single base substitution A G intron_variant MELA-AU 20 34216041 34216041 single base substitution A G upstream_gene_variant MELA-AU 20 34216577 34216577 single base substitution A G downstream_gene_variant MELA-AU 20 34216577 34216577 single base substitution A G intron_variant MELA-AU 20 34216577 34216577 single base substitution A G upstream_gene_variant MELA-AU 20 34216660 34216660 deletion of <=200bp T - downstream_gene_variant MELA-AU 20 34216660 34216660 deletion of <=200bp T - intron_variant MELA-AU 20 34216660 34216660 deletion of <=200bp T - upstream_gene_variant MELA-AU 20 34217444 34217444 single base substitution G A downstream_gene_variant MELA-AU 20 34217444 34217444 single base substitution G A intron_variant MELA-AU 20 34217444 34217444 single base substitution G A upstream_gene_variant MELA-AU 20 34217819 34217819 single base substitution G A downstream_gene_variant MELA-AU 20 34217819 34217819 single base substitution G A intron_variant MELA-AU 20 34217819 34217819 single base substitution G A upstream_gene_variant MELA-AU 20 34217938 34217938 single base substitution G A downstream_gene_variant MELA-AU 20 34217938 34217938 single base substitution G A intron_variant MELA-AU 20 34217938 34217938 single base substitution G A upstream_gene_variant MELA-AU 20 34217967 34217967 single base substitution G A downstream_gene_variant MELA-AU 20 34217967 34217967 single base substitution G A intron_variant MELA-AU 20 34217967 34217967 single base substitution G A upstream_gene_variant MELA-AU 20 34218223 34218227 deletion of <=200bp TAAAT - downstream_gene_variant MELA-AU 20 34218223 34218227 deletion of <=200bp TAAAT - intron_variant MELA-AU 20 34218223 34218227 deletion of <=200bp TAAAT - upstream_gene_variant MELA-AU 20 34218352 34218352 single base substitution G A downstream_gene_variant MELA-AU 20 34218352 34218352 single base substitution G A intron_variant MELA-AU 20 34218352 34218352 single base substitution G A upstream_gene_variant MELA-AU 20 34218433 34218433 single base substitution G A downstream_gene_variant MELA-AU 20 34218433 34218433 single base substitution G A exon_variant MELA-AU 20 34218433 34218433 single base substitution G A intron_variant MELA-AU 20 34218433 34218433 single base substitution G A upstream_gene_variant MELA-AU 20 34218490 34218490 single base substitution G A downstream_gene_variant MELA-AU 20 34218490 34218490 single base substitution G A exon_variant MELA-AU 20 34218490 34218490 single base substitution G A intron_variant MELA-AU 20 34218490 34218490 single base substitution G A upstream_gene_variant MELA-AU 20 34218508 34218508 single base substitution G A downstream_gene_variant MELA-AU 20 34218508 34218508 single base substitution G A exon_variant MELA-AU 20 34218508 34218508 single base substitution G A intron_variant MELA-AU 20 34218508 34218508 single base substitution G A upstream_gene_variant MELA-AU 20 34219104 34219104 single base substitution G A downstream_gene_variant MELA-AU 20 34219104 34219104 single base substitution G A intron_variant MELA-AU 20 34219104 34219104 single base substitution G A upstream_gene_variant MELA-AU 20 34219613 34219613 single base substitution G A 3_prime_UTR_variant MELA-AU 20 34219613 34219613 single base substitution G A downstream_gene_variant MELA-AU 20 34219613 34219613 single base substitution G A exon_variant MELA-AU 20 34219613 34219613 single base substitution G A synonymous_variant I184I 552C>T MELA-AU 20 34219613 34219613 single base substitution G A synonymous_variant I208I 624C>T MELA-AU 20 34219613 34219613 single base substitution G A synonymous_variant I213I 639C>T MELA-AU 20 34219613 34219613 single base substitution G A upstream_gene_variant MELA-AU 20 34219708 34219708 single base substitution G A downstream_gene_variant MELA-AU 20 34219708 34219708 single base substitution G A intron_variant MELA-AU 20 34219708 34219708 single base substitution G A upstream_gene_variant MELA-AU 20 34219912 34219912 single base substitution G A 3_prime_UTR_variant MELA-AU 20 34219912 34219912 single base substitution G A downstream_gene_variant MELA-AU 20 34219912 34219912 single base substitution G A exon_variant MELA-AU 20 34219912 34219912 single base substitution G A synonymous_variant F140F 420C>T MELA-AU 20 34219912 34219912 single base substitution G A synonymous_variant F164F 492C>T MELA-AU 20 34219912 34219912 single base substitution G A synonymous_variant F169F 507C>T MELA-AU 20 34219912 34219912 single base substitution G A upstream_gene_variant MELA-AU 20 34219925 34219925 single base substitution G A 3_prime_UTR_variant MELA-AU 20 34219925 34219925 single base substitution G A downstream_gene_variant MELA-AU 20 34219925 34219925 single base substitution G A exon_variant MELA-AU 20 34219925 34219925 single base substitution G A missense_variant P136L 407C>T MELA-AU 20 34219925 34219925 single base substitution G A missense_variant P160L 479C>T MELA-AU 20 34219925 34219925 single base substitution G A missense_variant P165L 494C>T MELA-AU 20 34219925 34219925 single base substitution G A upstream_gene_variant MELA-AU 20 34219926 34219926 single base substitution G A 3_prime_UTR_variant MELA-AU 20 34219926 34219926 single base substitution G A downstream_gene_variant MELA-AU 20 34219926 34219926 single base substitution G A exon_variant MELA-AU 20 34219926 34219926 single base substitution G A missense_variant P136S 406C>T MELA-AU 20 34219926 34219926 single base substitution G A missense_variant P160S 478C>T MELA-AU 20 34219926 34219926 single base substitution G A missense_variant P165S 493C>T MELA-AU 20 34219926 34219926 single base substitution G A upstream_gene_variant MELA-AU 20 34220165 34220165 single base substitution G A downstream_gene_variant MELA-AU 20 34220165 34220165 single base substitution G A exon_variant MELA-AU 20 34220165 34220165 single base substitution G A intron_variant MELA-AU 20 34220165 34220165 single base substitution G A upstream_gene_variant MELA-AU 20 34220278 34220278 single base substitution G A downstream_gene_variant MELA-AU 20 34220278 34220278 single base substitution G A exon_variant MELA-AU 20 34220278 34220278 single base substitution G A synonymous_variant P113P 339C>T MELA-AU 20 34220278 34220278 single base substitution G A synonymous_variant P118P 354C>T MELA-AU 20 34220278 34220278 single base substitution G A upstream_gene_variant MELA-AU 20 34220313 34220313 single base substitution G A downstream_gene_variant MELA-AU 20 34220313 34220313 single base substitution G A splice_region_variant MELA-AU 20 34220313 34220313 single base substitution G A upstream_gene_variant MELA-AU 20 34220581 34220581 single base substitution G A exon_variant MELA-AU 20 34220581 34220581 single base substitution G A missense_variant P56L 167C>T MELA-AU 20 34220581 34220581 single base substitution G A missense_variant P61L 182C>T MELA-AU 20 34220581 34220581 single base substitution G A upstream_gene_variant MELA-AU 20 34220753 34220753 single base substitution G A exon_variant MELA-AU 20 34220753 34220753 single base substitution G A synonymous_variant V31V 93C>T MELA-AU 20 34220753 34220753 single base substitution G A synonymous_variant V36V 108C>T MELA-AU 20 34220753 34220753 single base substitution G A upstream_gene_variant MELA-AU 20 34220813 34220813 single base substitution G A exon_variant MELA-AU 20 34220813 34220813 single base substitution G A synonymous_variant S11S 33C>T MELA-AU 20 34220813 34220813 single base substitution G A synonymous_variant S16S 48C>T MELA-AU 20 34220813 34220813 single base substitution G A upstream_gene_variant MELA-AU 20 34220851 34220851 single base substitution G A splice_region_variant MELA-AU 20 34220851 34220851 single base substitution G A upstream_gene_variant MELA-AU 20 34220852 34220852 single base substitution G A splice_region_variant MELA-AU 20 34220852 34220852 single base substitution G A upstream_gene_variant MELA-AU 20 34221666 34221666 single base substitution G A intron_variant MELA-AU 20 34221666 34221666 single base substitution G A upstream_gene_variant MELA-AU 20 34222093 34222093 single base substitution G T intron_variant MELA-AU 20 34222093 34222093 single base substitution G T upstream_gene_variant MELA-AU 20 34222308 34222308 single base substitution G A intron_variant MELA-AU 20 34222308 34222308 single base substitution G A upstream_gene_variant MELA-AU 20 34222340 34222340 single base substitution A G intron_variant MELA-AU 20 34222340 34222340 single base substitution A G upstream_gene_variant MELA-AU 20 34224368 34224368 single base substitution G A intron_variant MELA-AU 20 34224368 34224368 single base substitution G A upstream_gene_variant MELA-AU 20 34224424 34224424 single base substitution G A intron_variant MELA-AU 20 34224424 34224424 single base substitution G A upstream_gene_variant MELA-AU 20 34224614 34224614 single base substitution G A intron_variant MELA-AU 20 34224614 34224614 single base substitution G A upstream_gene_variant MELA-AU 20 34225128 34225128 single base substitution G A intron_variant MELA-AU 20 34225128 34225128 single base substitution G A upstream_gene_variant MELA-AU 20 34226208 34226208 single base substitution G A intron_variant MELA-AU 20 34226295 34226295 single base substitution G A intron_variant MELA-AU 20 34226371 34226371 single base substitution G A intron_variant MELA-AU 20 34226778 34226778 single base substitution C T intron_variant MELA-AU 20 34227561 34227561 single base substitution G A intron_variant MELA-AU 20 34229035 34229035 single base substitution A C intron_variant MELA-AU 20 34229270 34229271 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 34229549 34229549 single base substitution A C intron_variant MELA-AU 20 34229713 34229713 single base substitution A C intron_variant MELA-AU 20 34230835 34230835 single base substitution G A intron_variant MELA-AU 20 34231456 34231456 single base substitution G A intron_variant MELA-AU 20 34231598 34231598 single base substitution G A intron_variant MELA-AU 20 34231654 34231654 single base substitution G A intron_variant MELA-AU 20 34231743 34231743 single base substitution G A intron_variant MELA-AU 20 34231858 34231858 single base substitution G A intron_variant MELA-AU 20 34232683 34232683 single base substitution A T intron_variant MELA-AU 20 34232718 34232718 single base substitution A G intron_variant MELA-AU 20 34232755 34232755 single base substitution A G intron_variant MELA-AU 20 34235372 34235372 single base substitution G A intron_variant MELA-AU 20 34235449 34235449 single base substitution G A intron_variant MELA-AU 20 34236768 34236768 single base substitution C A intron_variant MELA-AU 20 34236828 34236828 single base substitution G A intron_variant MELA-AU 20 34239249 34239249 single base substitution G A intron_variant MELA-AU 20 34240016 34240016 single base substitution A G intron_variant MELA-AU 20 34240764 34240764 single base substitution A G intron_variant MELA-AU 20 34240832 34240832 single base substitution A G intron_variant MELA-AU 20 34241061 34241061 single base substitution A C intron_variant MELA-AU 20 34241216 34241216 single base substitution G A intron_variant MELA-AU 20 34241946 34241946 deletion of <=200bp G - downstream_gene_variant MELA-AU 20 34241946 34241946 deletion of <=200bp G - intron_variant MELA-AU 20 34241946 34241946 deletion of <=200bp G - upstream_gene_variant MELA-AU 20 34241985 34241986 multiple base substitution (>=2bp and <=200bp) TG CT downstream_gene_variant MELA-AU 20 34241985 34241986 multiple base substitution (>=2bp and <=200bp) TG CT intron_variant MELA-AU 20 34241985 34241986 multiple base substitution (>=2bp and <=200bp) TG CT upstream_gene_variant MELA-AU 20 34242911 34242911 single base substitution C T downstream_gene_variant MELA-AU 20 34242911 34242911 single base substitution C T intron_variant MELA-AU 20 34242911 34242911 single base substitution C T upstream_gene_variant MELA-AU 20 34244476 34244514 deletion of <=200bp GACAGAGTTTCACTCTTGTAGCCCAGGCTGCAGTGCAAC - downstream_gene_variant MELA-AU 20 34244476 34244514 deletion of <=200bp GACAGAGTTTCACTCTTGTAGCCCAGGCTGCAGTGCAAC - intron_variant MELA-AU 20 34244476 34244514 deletion of <=200bp GACAGAGTTTCACTCTTGTAGCCCAGGCTGCAGTGCAAC - upstream_gene_variant MELA-AU 20 34245350 34245350 single base substitution G A downstream_gene_variant MELA-AU 20 34245350 34245350 single base substitution G A intron_variant MELA-AU 20 34245350 34245350 single base substitution G A upstream_gene_variant MELA-AU 20 34246334 34246334 single base substitution G A downstream_gene_variant MELA-AU 20 34246334 34246334 single base substitution G A intron_variant MELA-AU 20 34246334 34246334 single base substitution G A upstream_gene_variant MELA-AU 20 34246724 34246724 single base substitution A C downstream_gene_variant MELA-AU 20 34246724 34246724 single base substitution A C intron_variant MELA-AU 20 34247975 34247975 single base substitution G A intron_variant MELA-AU 20 34248532 34248532 single base substitution A T intron_variant MELA-AU 20 34248552 34248552 single base substitution A C intron_variant MELA-AU 20 34251015 34251015 single base substitution A C intron_variant MELA-AU 20 34251594 34251594 single base substitution G A intron_variant MELA-AU 20 34251945 34251945 single base substitution G A intron_variant MELA-AU 20 34252226 34252227 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 20 34252888 34252888 single base substitution G A upstream_gene_variant MELA-AU 20 34253400 34253400 single base substitution C T upstream_gene_variant MELA-AU 20 34253597 34253597 single base substitution C T upstream_gene_variant MELA-AU 20 34253758 34253758 single base substitution A T upstream_gene_variant MELA-AU 20 34254056 34254056 single base substitution G A upstream_gene_variant MELA-AU 20 34255555 34255555 single base substitution G A upstream_gene_variant MELA-AU 20 34256361 34256361 single base substitution G A upstream_gene_variant MELA-AU 20 34256749 34256749 single base substitution G A upstream_gene_variant MELA-AU 20 34257028 34257028 single base substitution G A upstream_gene_variant MELA-AU 20 34257156 34257156 single base substitution G A upstream_gene_variant MELA-AU 20 34257217 34257217 single base substitution G A upstream_gene_variant MELA-AU 20 34257309 34257309 single base substitution G A upstream_gene_variant ORCA-IN 20 34225888 34225888 single base substitution T A intron_variant ORCA-IN 20 34232925 34232925 single base substitution G C intron_variant ORCA-IN 20 34235298 34235298 single base substitution C G intron_variant ORCA-IN 20 34240594 34240594 single base substitution C A intron_variant ORCA-IN 20 34240600 34240600 single base substitution A G intron_variant ORCA-IN 20 34250484 34250484 single base substitution G A intron_variant OV-AU 20 34217052 34217052 single base substitution G C downstream_gene_variant OV-AU 20 34217052 34217052 single base substitution G C intron_variant OV-AU 20 34217052 34217052 single base substitution G C upstream_gene_variant OV-AU 20 34218108 34218108 single base substitution T G downstream_gene_variant OV-AU 20 34218108 34218108 single base substitution T G intron_variant OV-AU 20 34218108 34218108 single base substitution T G upstream_gene_variant OV-AU 20 34219401 34219401 single base substitution G A downstream_gene_variant OV-AU 20 34219401 34219401 single base substitution G A intron_variant OV-AU 20 34219401 34219401 single base substitution G A upstream_gene_variant OV-AU 20 34221847 34221847 single base substitution C T intron_variant OV-AU 20 34221847 34221847 single base substitution C T upstream_gene_variant OV-AU 20 34222826 34222826 single base substitution T A intron_variant OV-AU 20 34222826 34222826 single base substitution T A upstream_gene_variant OV-AU 20 34226431 34226431 single base substitution C G intron_variant OV-AU 20 34227025 34227025 single base substitution A G intron_variant OV-AU 20 34234197 34234197 single base substitution A G intron_variant OV-AU 20 34248520 34248520 single base substitution A T intron_variant OV-AU 20 34251917 34251917 single base substitution G C intron_variant OV-AU 20 34252874 34252874 single base substitution T A 5_prime_UTR_variant OV-AU 20 34252874 34252874 single base substitution T A upstream_gene_variant OV-AU 20 34254650 34254650 single base substitution G A upstream_gene_variant OV-US 20 34242062 34242062 single base substitution T C downstream_gene_variant OV-US 20 34242062 34242062 single base substitution T C intron_variant OV-US 20 34242062 34242062 single base substitution T C upstream_gene_variant PACA-AU 20 34212941 34212941 insertion of <=200bp - A downstream_gene_variant PACA-AU 20 34213368 34213368 single base substitution T C downstream_gene_variant PACA-AU 20 34224475 34224475 single base substitution G A intron_variant PACA-AU 20 34224475 34224475 single base substitution G A upstream_gene_variant PACA-AU 20 34225390 34225390 single base substitution C T intron_variant PACA-AU 20 34225390 34225390 single base substitution C T upstream_gene_variant PACA-AU 20 34235839 34235839 single base substitution T A intron_variant PACA-AU 20 34249285 34249285 single base substitution G A intron_variant PACA-AU 20 34249287 34249287 single base substitution C A intron_variant PACA-AU 20 34252012 34252012 single base substitution G T intron_variant PACA-CA 20 34209221 34209221 single base substitution G A downstream_gene_variant PACA-CA 20 34214145 34214145 single base substitution C T 3_prime_UTR_variant PACA-CA 20 34214145 34214145 single base substitution C T downstream_gene_variant PACA-CA 20 34214145 34214145 single base substitution C T exon_variant PACA-CA 20 34214145 34214145 single base substitution C T missense_variant G184S 550G>A PACA-CA 20 34214627 34214627 single base substitution C T 3_prime_UTR_variant PACA-CA 20 34214627 34214627 single base substitution C T downstream_gene_variant PACA-CA 20 34214627 34214627 single base substitution C T exon_variant PACA-CA 20 34214627 34214627 single base substitution C T intron_variant PACA-CA 20 34214627 34214627 single base substitution C T synonymous_variant V444V 1332G>A PACA-CA 20 34214627 34214627 single base substitution C T synonymous_variant V445V 1335G>A PACA-CA 20 34214627 34214627 single base substitution C T synonymous_variant V450V 1350G>A PACA-CA 20 34214627 34214627 single base substitution C T synonymous_variant V83V 249G>A PACA-CA 20 34222678 34222678 single base substitution C T intron_variant PACA-CA 20 34222678 34222678 single base substitution C T upstream_gene_variant PACA-CA 20 34231755 34231755 single base substitution C T intron_variant PACA-CA 20 34234865 34234865 single base substitution T C intron_variant PACA-CA 20 34235079 34235079 deletion of <=200bp A - intron_variant PACA-CA 20 34237661 34237661 deletion of <=200bp A - intron_variant PACA-CA 20 34240332 34240332 single base substitution C T intron_variant PACA-CA 20 34241435 34241435 single base substitution A C intron_variant PACA-CA 20 34248155 34248155 single base substitution C T intron_variant PACA-CA 20 34249704 34249704 single base substitution T G intron_variant PACA-CA 20 34252062 34252062 single base substitution C G intron_variant PAEN-AU 20 34255339 34255339 single base substitution G A upstream_gene_variant PAEN-IT 20 34252049 34252049 single base substitution G A intron_variant PBCA-DE 20 34218088 34218088 single base substitution C A downstream_gene_variant PBCA-DE 20 34218088 34218088 single base substitution C A intron_variant PBCA-DE 20 34218088 34218088 single base substitution C A upstream_gene_variant PBCA-DE 20 34234939 34234939 deletion of <=200bp A - intron_variant PBCA-DE 20 34235323 34235323 single base substitution G A intron_variant PBCA-DE 20 34238158 34238158 single base substitution G A intron_variant PRAD-UK 20 34211777 34211777 insertion of <=200bp - A downstream_gene_variant PRAD-UK 20 34213904 34213904 single base substitution A C downstream_gene_variant PRAD-UK 20 34232624 34232624 insertion of <=200bp - T intron_variant PRAD-UK 20 34237042 34237042 single base substitution C A intron_variant PRAD-UK 20 34248591 34248591 single base substitution A G intron_variant PRAD-UK 20 34251580 34251580 single base substitution T A intron_variant PRAD-UK 20 34251705 34251705 single base substitution T A intron_variant READ-US 20 34240740 34240740 insertion of <=200bp - GGGCCG intron_variant READ-US 20 34241372 34241372 single base substitution T C intron_variant RECA-EU 20 34209392 34209392 single base substitution T A downstream_gene_variant RECA-EU 20 34227937 34227937 single base substitution G T intron_variant RECA-EU 20 34229444 34229444 single base substitution C T intron_variant RECA-EU 20 34231249 34231249 single base substitution T A intron_variant RECA-EU 20 34232983 34232983 single base substitution A G intron_variant RECA-EU 20 34239451 34239451 single base substitution A T intron_variant RECA-EU 20 34250717 34250717 single base substitution A G intron_variant RECA-EU 20 34252157 34252157 single base substitution G A intron_variant RECA-EU 20 34255065 34255065 single base substitution T G upstream_gene_variant SKCA-BR 20 34209743 34209743 single base substitution G A downstream_gene_variant SKCA-BR 20 34217419 34217419 single base substitution G A downstream_gene_variant SKCA-BR 20 34217419 34217419 single base substitution G A intron_variant SKCA-BR 20 34217419 34217419 single base substitution G A upstream_gene_variant SKCA-BR 20 34219506 34219506 single base substitution G A downstream_gene_variant SKCA-BR 20 34219506 34219506 single base substitution G A intron_variant SKCA-BR 20 34219506 34219506 single base substitution G A splice_region_variant SKCA-BR 20 34219506 34219506 single base substitution G A upstream_gene_variant SKCA-BR 20 34219507 34219507 single base substitution G A downstream_gene_variant SKCA-BR 20 34219507 34219507 single base substitution G A intron_variant SKCA-BR 20 34219507 34219507 single base substitution G A splice_region_variant SKCA-BR 20 34219507 34219507 single base substitution G A upstream_gene_variant SKCA-BR 20 34222360 34222360 single base substitution A G intron_variant SKCA-BR 20 34222360 34222360 single base substitution A G upstream_gene_variant SKCA-BR 20 34224028 34224028 single base substitution G A intron_variant SKCA-BR 20 34224028 34224028 single base substitution G A upstream_gene_variant SKCA-BR 20 34224792 34224792 single base substitution A G intron_variant SKCA-BR 20 34224792 34224792 single base substitution A G upstream_gene_variant SKCA-BR 20 34226440 34226440 single base substitution G A intron_variant SKCA-BR 20 34226945 34226945 single base substitution G A intron_variant SKCA-BR 20 34227026 34227026 single base substitution C A intron_variant SKCA-BR 20 34231042 34231042 single base substitution G A intron_variant SKCA-BR 20 34231043 34231043 single base substitution G A intron_variant SKCA-BR 20 34232615 34232615 single base substitution A C intron_variant SKCA-BR 20 34232632 34232632 single base substitution A C intron_variant SKCA-BR 20 34234201 34234201 single base substitution G A intron_variant SKCA-BR 20 34237606 34237606 single base substitution T C intron_variant SKCA-BR 20 34242720 34242720 single base substitution A G downstream_gene_variant SKCA-BR 20 34242720 34242720 single base substitution A G intron_variant SKCA-BR 20 34242720 34242720 single base substitution A G upstream_gene_variant SKCA-BR 20 34246285 34246285 single base substitution G A downstream_gene_variant SKCA-BR 20 34246285 34246285 single base substitution G A intron_variant SKCA-BR 20 34246285 34246285 single base substitution G A upstream_gene_variant SKCA-BR 20 34247060 34247061 deletion of <=200bp CA - intron_variant SKCA-BR 20 34247384 34247384 single base substitution G A intron_variant SKCA-BR 20 34247810 34247810 single base substitution G A intron_variant SKCA-BR 20 34253941 34253941 single base substitution T G upstream_gene_variant SKCM-US 20 34214176 34214176 single base substitution G A 3_prime_UTR_variant SKCM-US 20 34214176 34214176 single base substitution G A downstream_gene_variant SKCM-US 20 34214176 34214176 single base substitution G A exon_variant SKCM-US 20 34214176 34214176 single base substitution G A missense_variant A478V 1433C>T SKCM-US 20 34214176 34214176 single base substitution G A missense_variant A533V 1598C>T SKCM-US 20 34214176 34214176 single base substitution G A missense_variant A534V 1601C>T SKCM-US 20 34214176 34214176 single base substitution G A missense_variant A539V 1616C>T SKCM-US 20 34214176 34214176 single base substitution G A synonymous_variant G173G 519C>T SKCM-US 20 34214185 34214185 single base substitution G A 3_prime_UTR_variant SKCM-US 20 34214185 34214185 single base substitution G A downstream_gene_variant SKCM-US 20 34214185 34214185 single base substitution G A exon_variant SKCM-US 20 34214185 34214185 single base substitution G A missense_variant P475L 1424C>T SKCM-US 20 34214185 34214185 single base substitution G A missense_variant P530L 1589C>T SKCM-US 20 34214185 34214185 single base substitution G A missense_variant P531L 1592C>T SKCM-US 20 34214185 34214185 single base substitution G A missense_variant P536L 1607C>T SKCM-US 20 34214185 34214185 single base substitution G A synonymous_variant S170S 510C>T SKCM-US 20 34215285 34215285 single base substitution G A downstream_gene_variant SKCM-US 20 34215285 34215285 single base substitution G A exon_variant SKCM-US 20 34215285 34215285 single base substitution G A missense_variant L23F 67C>T SKCM-US 20 34215285 34215285 single base substitution G A missense_variant L361F 1081C>T SKCM-US 20 34215285 34215285 single base substitution G A missense_variant L385F 1153C>T SKCM-US 20 34215285 34215285 single base substitution G A missense_variant L390F 1168C>T SKCM-US 20 34215285 34215285 single base substitution G A upstream_gene_variant SKCM-US 20 34215288 34215288 single base substitution G A downstream_gene_variant SKCM-US 20 34215288 34215288 single base substitution G A exon_variant SKCM-US 20 34215288 34215288 single base substitution G A missense_variant R22C 64C>T SKCM-US 20 34215288 34215288 single base substitution G A missense_variant R360C 1078C>T SKCM-US 20 34215288 34215288 single base substitution G A missense_variant R384C 1150C>T SKCM-US 20 34215288 34215288 single base substitution G A missense_variant R389C 1165C>T SKCM-US 20 34215288 34215288 single base substitution G A upstream_gene_variant SKCM-US 20 34218407 34218407 single base substitution C T downstream_gene_variant SKCM-US 20 34218407 34218407 single base substitution C T exon_variant SKCM-US 20 34218407 34218407 single base substitution C T synonymous_variant S328S 984G>A SKCM-US 20 34218407 34218407 single base substitution C T synonymous_variant S352S 1056G>A SKCM-US 20 34218407 34218407 single base substitution C T synonymous_variant S357S 1071G>A SKCM-US 20 34218407 34218407 single base substitution C T upstream_gene_variant SKCM-US 20 34218677 34218677 single base substitution G A downstream_gene_variant SKCM-US 20 34218677 34218677 single base substitution G A exon_variant SKCM-US 20 34218677 34218677 single base substitution G A missense_variant P322S 964C>T SKCM-US 20 34218677 34218677 single base substitution G A missense_variant P346S 1036C>T SKCM-US 20 34218677 34218677 single base substitution G A missense_variant P351S 1051C>T SKCM-US 20 34218677 34218677 single base substitution G A upstream_gene_variant SKCM-US 20 34219456 34219456 single base substitution G A downstream_gene_variant SKCM-US 20 34219456 34219456 single base substitution G A exon_variant SKCM-US 20 34219456 34219456 single base substitution G A synonymous_variant I200I 600C>T SKCM-US 20 34219456 34219456 single base substitution G A synonymous_variant I224I 672C>T SKCM-US 20 34219456 34219456 single base substitution G A synonymous_variant I229I 687C>T SKCM-US 20 34219456 34219456 single base substitution G A upstream_gene_variant SKCM-US 20 34220242 34220242 single base substitution C G downstream_gene_variant SKCM-US 20 34220242 34220242 single base substitution C G exon_variant SKCM-US 20 34220242 34220242 single base substitution C G synonymous_variant G125G 375G>C SKCM-US 20 34220242 34220242 single base substitution C G synonymous_variant G130G 390G>C SKCM-US 20 34220242 34220242 single base substitution C G upstream_gene_variant SKCM-US 20 34220449 34220449 single base substitution G A downstream_gene_variant SKCM-US 20 34220449 34220449 single base substitution G A exon_variant SKCM-US 20 34220449 34220449 single base substitution G A missense_variant S100F 299C>T SKCM-US 20 34220449 34220449 single base substitution G A missense_variant S105F 314C>T SKCM-US 20 34220449 34220449 single base substitution G A upstream_gene_variant SKCM-US 20 34220572 34220572 single base substitution G A exon_variant SKCM-US 20 34220572 34220572 single base substitution G A missense_variant S59F 176C>T SKCM-US 20 34220572 34220572 single base substitution G A missense_variant S64F 191C>T SKCM-US 20 34220572 34220572 single base substitution G A upstream_gene_variant SKCM-US 20 34220719 34220719 single base substitution C T missense_variant E43K 127G>A SKCM-US 20 34220719 34220719 single base substitution C T missense_variant E48K 142G>A SKCM-US 20 34220719 34220719 single base substitution C T splice_region_variant SKCM-US 20 34220719 34220719 single base substitution C T upstream_gene_variant SKCM-US 20 34240839 34240839 single base substitution G A intron_variant SKCM-US 20 34240927 34240927 single base substitution C T intron_variant SKCM-US 20 34241050 34241050 single base substitution G A intron_variant SKCM-US 20 34241216 34241216 single base substitution G A intron_variant SKCM-US 20 34241243 34241243 single base substitution G A intron_variant SKCM-US 20 34241272 34241272 single base substitution G A intron_variant SKCM-US 20 34241544 34241544 single base substitution G A 5_prime_UTR_variant SKCM-US 20 34241544 34241544 single base substitution G A intron_variant SKCM-US 20 34241641 34241641 single base substitution G A intron_variant SKCM-US 20 34241641 34241641 single base substitution G A upstream_gene_variant SKCM-US 20 34241734 34241734 single base substitution G T intron_variant SKCM-US 20 34241734 34241734 single base substitution G T upstream_gene_variant SKCM-US 20 34241738 34241738 single base substitution G A intron_variant SKCM-US 20 34241738 34241738 single base substitution G A upstream_gene_variant SKCM-US 20 34241899 34241899 single base substitution A T downstream_gene_variant SKCM-US 20 34241899 34241899 single base substitution A T intron_variant SKCM-US 20 34241899 34241899 single base substitution A T upstream_gene_variant SKCM-US 20 34242055 34242055 single base substitution G A downstream_gene_variant SKCM-US 20 34242055 34242055 single base substitution G A intron_variant SKCM-US 20 34242055 34242055 single base substitution G A upstream_gene_variant SKCM-US 20 34242197 34242197 single base substitution A C downstream_gene_variant SKCM-US 20 34242197 34242197 single base substitution A C intron_variant SKCM-US 20 34242197 34242197 single base substitution A C upstream_gene_variant SKCM-US 20 34242240 34242240 single base substitution C G downstream_gene_variant SKCM-US 20 34242240 34242240 single base substitution C G intron_variant SKCM-US 20 34242240 34242240 single base substitution C G upstream_gene_variant SKCM-US 20 34242626 34242626 single base substitution G A downstream_gene_variant SKCM-US 20 34242626 34242626 single base substitution G A intron_variant SKCM-US 20 34242626 34242626 single base substitution G A upstream_gene_variant SKCM-US 20 34242629 34242629 single base substitution G A downstream_gene_variant SKCM-US 20 34242629 34242629 single base substitution G A intron_variant SKCM-US 20 34242629 34242629 single base substitution G A upstream_gene_variant SKCM-US 20 34242834 34242834 single base substitution G A downstream_gene_variant SKCM-US 20 34242834 34242834 single base substitution G A intron_variant SKCM-US 20 34242834 34242834 single base substitution G A upstream_gene_variant SKCM-US 20 34243230 34243230 single base substitution G A 5_prime_UTR_variant SKCM-US 20 34243230 34243230 single base substitution G A downstream_gene_variant SKCM-US 20 34243230 34243230 single base substitution G A intron_variant SKCM-US 20 34243230 34243230 single base substitution G A upstream_gene_variant SKCM-US 20 34257603 34257603 single base substitution G A upstream_gene_variant SKCM-US 20 34257606 34257606 single base substitution G A upstream_gene_variant STAD-US 20 34214277 34214277 single base substitution G A 3_prime_UTR_variant STAD-US 20 34214277 34214277 single base substitution G A downstream_gene_variant STAD-US 20 34214277 34214277 single base substitution G A exon_variant STAD-US 20 34214277 34214277 single base substitution G A missense_variant R140C 418C>T STAD-US 20 34214277 34214277 single base substitution G A synonymous_variant T444T 1332C>T STAD-US 20 34214277 34214277 single base substitution G A synonymous_variant T499T 1497C>T STAD-US 20 34214277 34214277 single base substitution G A synonymous_variant T500T 1500C>T STAD-US 20 34214277 34214277 single base substitution G A synonymous_variant T505T 1515C>T STAD-US 20 34214296 34214296 single base substitution C T 3_prime_UTR_variant STAD-US 20 34214296 34214296 single base substitution C T downstream_gene_variant STAD-US 20 34214296 34214296 single base substitution C T exon_variant STAD-US 20 34214296 34214296 single base substitution C T missense_variant R438Q 1313G>A STAD-US 20 34214296 34214296 single base substitution C T missense_variant R493Q 1478G>A STAD-US 20 34214296 34214296 single base substitution C T missense_variant R494Q 1481G>A STAD-US 20 34214296 34214296 single base substitution C T missense_variant R499Q 1496G>A STAD-US 20 34214296 34214296 single base substitution C T synonymous_variant S133S 399G>A STAD-US 20 34214684 34214684 single base substitution C T 3_prime_UTR_variant STAD-US 20 34214684 34214684 single base substitution C T downstream_gene_variant STAD-US 20 34214684 34214684 single base substitution C T exon_variant STAD-US 20 34214684 34214684 single base substitution C T synonymous_variant T425T 1275G>A STAD-US 20 34214684 34214684 single base substitution C T synonymous_variant T426T 1278G>A STAD-US 20 34214684 34214684 single base substitution C T synonymous_variant T431T 1293G>A STAD-US 20 34214684 34214684 single base substitution C T synonymous_variant T64T 192G>A STAD-US 20 34218375 34218375 single base substitution T C downstream_gene_variant STAD-US 20 34218375 34218375 single base substitution T C exon_variant STAD-US 20 34218375 34218375 single base substitution T C missense_variant N1S 2A>G STAD-US 20 34218375 34218375 single base substitution T C missense_variant N339S 1016A>G STAD-US 20 34218375 34218375 single base substitution T C missense_variant N363S 1088A>G STAD-US 20 34218375 34218375 single base substitution T C missense_variant N368S 1103A>G STAD-US 20 34218375 34218375 single base substitution T C upstream_gene_variant STAD-US 20 34218826 34218826 single base substitution T C downstream_gene_variant STAD-US 20 34218826 34218826 single base substitution T C exon_variant STAD-US 20 34218826 34218826 single base substitution T C missense_variant D307G 920A>G STAD-US 20 34218826 34218826 single base substitution T C missense_variant D331G 992A>G STAD-US 20 34218826 34218826 single base substitution T C missense_variant D336G 1007A>G STAD-US 20 34218826 34218826 single base substitution T C upstream_gene_variant STAD-US 20 34218842 34218842 single base substitution C T downstream_gene_variant STAD-US 20 34218842 34218842 single base substitution C T exon_variant STAD-US 20 34218842 34218842 single base substitution C T missense_variant V302M 904G>A STAD-US 20 34218842 34218842 single base substitution C T missense_variant V326M 976G>A STAD-US 20 34218842 34218842 single base substitution C T missense_variant V331M 991G>A STAD-US 20 34218842 34218842 single base substitution C T upstream_gene_variant STAD-US 20 34218844 34218844 single base substitution C T downstream_gene_variant STAD-US 20 34218844 34218844 single base substitution C T exon_variant STAD-US 20 34218844 34218844 single base substitution C T missense_variant S301N 902G>A STAD-US 20 34218844 34218844 single base substitution C T missense_variant S325N 974G>A STAD-US 20 34218844 34218844 single base substitution C T missense_variant S330N 989G>A STAD-US 20 34218844 34218844 single base substitution C T upstream_gene_variant STAD-US 20 34218859 34218859 single base substitution A G downstream_gene_variant STAD-US 20 34218859 34218859 single base substitution A G exon_variant STAD-US 20 34218859 34218859 single base substitution A G missense_variant L296P 887T>C STAD-US 20 34218859 34218859 single base substitution A G missense_variant L320P 959T>C STAD-US 20 34218859 34218859 single base substitution A G missense_variant L325P 974T>C STAD-US 20 34218859 34218859 single base substitution A G upstream_gene_variant STAD-US 20 34220121 34220121 single base substitution T C 3_prime_UTR_variant STAD-US 20 34220121 34220121 single base substitution T C downstream_gene_variant STAD-US 20 34220121 34220121 single base substitution T C exon_variant STAD-US 20 34220121 34220121 single base substitution T C intron_variant STAD-US 20 34220121 34220121 single base substitution T C synonymous_variant V140V 420A>G STAD-US 20 34220121 34220121 single base substitution T C synonymous_variant V145V 435A>G STAD-US 20 34220121 34220121 single base substitution T C upstream_gene_variant STAD-US 20 34220233 34220233 single base substitution C T downstream_gene_variant STAD-US 20 34220233 34220233 single base substitution C T exon_variant STAD-US 20 34220233 34220233 single base substitution C T splice_region_variant STAD-US 20 34220233 34220233 single base substitution C T upstream_gene_variant STAD-US 20 34220721 34220721 single base substitution G A exon_variant STAD-US 20 34220721 34220721 single base substitution G A missense_variant A42V 125C>T STAD-US 20 34220721 34220721 single base substitution G A missense_variant A47V 140C>T STAD-US 20 34220721 34220721 single base substitution G A upstream_gene_variant STAD-US 20 34220730 34220730 deletion of <=200bp C - exon_variant STAD-US 20 34220730 34220730 deletion of <=200bp C - frameshift_variant G39 STAD-US 20 34220730 34220730 deletion of <=200bp C - frameshift_variant G44 STAD-US 20 34220730 34220730 deletion of <=200bp C - upstream_gene_variant STAD-US 20 34220780 34220780 single base substitution G A exon_variant STAD-US 20 34220780 34220780 single base substitution G A synonymous_variant I22I 66C>T STAD-US 20 34220780 34220780 single base substitution G A synonymous_variant I27I 81C>T STAD-US 20 34220780 34220780 single base substitution G A upstream_gene_variant STAD-US 20 34240741 34240746 deletion of <=200bp GGGCCG - intron_variant STAD-US 20 34240845 34240845 single base substitution G A intron_variant STAD-US 20 34241114 34241114 single base substitution C A intron_variant STAD-US 20 34241148 34241148 single base substitution A G intron_variant STAD-US 20 34241387 34241387 single base substitution T C intron_variant STAD-US 20 34241632 34241632 single base substitution T C intron_variant STAD-US 20 34241632 34241632 single base substitution T C upstream_gene_variant STAD-US 20 34241803 34241803 single base substitution T G intron_variant STAD-US 20 34241803 34241803 single base substitution T G upstream_gene_variant STAD-US 20 34241967 34241967 single base substitution A G downstream_gene_variant STAD-US 20 34241967 34241967 single base substitution A G intron_variant STAD-US 20 34241967 34241967 single base substitution A G upstream_gene_variant STAD-US 20 34242522 34242539 deletion of <=200bp CATGGGTGGCAGTGGGGT - downstream_gene_variant STAD-US 20 34242522 34242539 deletion of <=200bp CATGGGTGGCAGTGGGGT - intron_variant STAD-US 20 34242522 34242539 deletion of <=200bp CATGGGTGGCAGTGGGGT - upstream_gene_variant STAD-US 20 34242562 34242562 deletion of <=200bp G - downstream_gene_variant STAD-US 20 34242562 34242562 deletion of <=200bp G - intron_variant STAD-US 20 34242562 34242562 deletion of <=200bp G - upstream_gene_variant STAD-US 20 34242789 34242789 single base substitution T C downstream_gene_variant STAD-US 20 34242789 34242789 single base substitution T C intron_variant STAD-US 20 34242789 34242789 single base substitution T C upstream_gene_variant STAD-US 20 34243085 34243085 single base substitution T C downstream_gene_variant STAD-US 20 34243085 34243085 single base substitution T C intron_variant STAD-US 20 34243085 34243085 single base substitution T C upstream_gene_variant STAD-US 20 34243149 34243149 single base substitution G A 5_prime_UTR_variant STAD-US 20 34243149 34243149 single base substitution G A downstream_gene_variant STAD-US 20 34243149 34243149 single base substitution G A intron_variant STAD-US 20 34243149 34243149 single base substitution G A upstream_gene_variant THCA-SA 20 34239823 34239823 single base substitution C A intron_variant THCA-US 20 34218857 34218857 single base substitution A G downstream_gene_variant THCA-US 20 34218857 34218857 single base substitution A G exon_variant THCA-US 20 34218857 34218857 single base substitution A G missense_variant W297R 889T>C THCA-US 20 34218857 34218857 single base substitution A G missense_variant W321R 961T>C THCA-US 20 34218857 34218857 single base substitution A G missense_variant W326R 976T>C THCA-US 20 34218857 34218857 single base substitution A G upstream_gene_variant THCA-US 20 34241438 34241438 single base substitution G A intron_variant THCA-US 20 34242285 34242285 single base substitution G C downstream_gene_variant THCA-US 20 34242285 34242285 single base substitution G C intron_variant THCA-US 20 34242285 34242285 single base substitution G C upstream_gene_variant UCEC-US 20 34214270 34214270 single base substitution C T 3_prime_UTR_variant UCEC-US 20 34214270 34214270 single base substitution C T downstream_gene_variant UCEC-US 20 34214270 34214270 single base substitution C T exon_variant UCEC-US 20 34214270 34214270 single base substitution C T missense_variant A447T 1339G>A UCEC-US 20 34214270 34214270 single base substitution C T missense_variant A502T 1504G>A UCEC-US 20 34214270 34214270 single base substitution C T missense_variant A503T 1507G>A UCEC-US 20 34214270 34214270 single base substitution C T missense_variant A508T 1522G>A UCEC-US 20 34214270 34214270 single base substitution C T missense_variant R142H 425G>A UCEC-US 20 34214538 34214538 single base substitution G T 3_prime_UTR_variant UCEC-US 20 34214538 34214538 single base substitution G T downstream_gene_variant UCEC-US 20 34214538 34214538 single base substitution G T exon_variant UCEC-US 20 34214538 34214538 single base substitution G T intron_variant UCEC-US 20 34214538 34214538 single base substitution G T missense_variant A113D 338C>A UCEC-US 20 34214538 34214538 single base substitution G T missense_variant A474D 1421C>A UCEC-US 20 34214538 34214538 single base substitution G T missense_variant A475D 1424C>A UCEC-US 20 34214538 34214538 single base substitution G T missense_variant A480D 1439C>A UCEC-US 20 34220147 34220147 single base substitution G A downstream_gene_variant UCEC-US 20 34220147 34220147 single base substitution G A exon_variant UCEC-US 20 34220147 34220147 single base substitution G A intron_variant UCEC-US 20 34220147 34220147 single base substitution G A stop_gained Q132* 394C>T UCEC-US 20 34220147 34220147 single base substitution G A stop_gained Q137* 409C>T UCEC-US 20 34220147 34220147 single base substitution G A upstream_gene_variant UCEC-US 20 34220548 34220548 single base substitution C T exon_variant UCEC-US 20 34220548 34220548 single base substitution C T missense_variant R67H 200G>A UCEC-US 20 34220548 34220548 single base substitution C T missense_variant R72H 215G>A UCEC-US 20 34220548 34220548 single base substitution C T synonymous_variant ?67 UCEC-US 20 34220548 34220548 single base substitution C T upstream_gene_variant UCEC-US 20 34220553 34220553 single base substitution C T exon_variant UCEC-US 20 34220553 34220553 single base substitution C T synonymous_variant E65E 195G>A UCEC-US 20 34220553 34220553 single base substitution C T synonymous_variant E70E 210G>A UCEC-US 20 34220553 34220553 single base substitution C T upstream_gene_variant UCEC-US 20 34240546 34240546 single base substitution G A intron_variant UCEC-US 20 34240548 34240548 single base substitution T C intron_variant UCEC-US 20 34240708 34240708 single base substitution A G intron_variant UCEC-US 20 34241450 34241450 single base substitution G A intron_variant UCEC-US 20 34241450 34241450 single base substitution G A splice_region_variant UCEC-US 20 34241483 34241483 single base substitution C T 5_prime_UTR_variant UCEC-US 20 34241483 34241483 single base substitution C T intron_variant UCEC-US 20 34241499 34241499 single base substitution C T 5_prime_UTR_variant UCEC-US 20 34241499 34241499 single base substitution C T intron_variant UCEC-US 20 34241865 34241865 single base substitution A C downstream_gene_variant UCEC-US 20 34241865 34241865 single base substitution A C intron_variant UCEC-US 20 34241865 34241865 single base substitution A C upstream_gene_variant UCEC-US 20 34241893 34241893 single base substitution T C downstream_gene_variant UCEC-US 20 34241893 34241893 single base substitution T C intron_variant UCEC-US 20 34241893 34241893 single base substitution T C upstream_gene_variant UCEC-US 20 34242488 34242488 single base substitution C T downstream_gene_variant UCEC-US 20 34242488 34242488 single base substitution C T intron_variant UCEC-US 20 34242488 34242488 single base substitution C T upstream_gene_variant UCEC-US 20 34242500 34242500 single base substitution G A downstream_gene_variant UCEC-US 20 34242500 34242500 single base substitution G A intron_variant UCEC-US 20 34242500 34242500 single base substitution G A upstream_gene_variant UCEC-US 20 34242510 34242510 single base substitution C T downstream_gene_variant UCEC-US 20 34242510 34242510 single base substitution C T intron_variant UCEC-US 20 34242510 34242510 single base substitution C T upstream_gene_variant UCEC-US 20 34242979 34242979 single base substitution C T downstream_gene_variant UCEC-US 20 34242979 34242979 single base substitution C T intron_variant UCEC-US 20 34242979 34242979 single base substitution C T upstream_gene_variant UCEC-US 20 34243011 34243011 single base substitution T C downstream_gene_variant UCEC-US 20 34243011 34243011 single base substitution T C intron_variant UCEC-US 20 34243011 34243011 single base substitution T C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SNUH_G09_S1 COSM3681181 c.1011A>C p.S337S Substitution - coding silent 20:35630795-35630795 - RK076_C01 COSM3701620 c.508T>A p.F170I Substitution - Missense 20:35631989-35631989 - TCGA-AA-A010-01 COSM280105 c.1250C>T p.S417L Substitution - Missense 20:35627281-35627281 - 3N50-VS-3T50 COSM4983090 c.54C>T p.S18S Substitution - coding silent 20:35632885-35632885 - 169 COSM3729746 c.1502C>T p.A501V Substitution - Missense 20:35626368-35626368 - PT46 COSM5930007 c.332C>T p.S111F Substitution - Missense 20:35632378-35632378 - TCGA-ER-A19W-06 COSM4399078 c.687C>T p.I229I Substitution - coding silent 20:35631534-35631534 - TCGA-B5-A0JY-01 COSM1026268 c.210G>A p.E70E Substitution - coding silent 20:35632631-35632631 - T368 COSM4674367 c.1424C>T p.T475I Substitution - Missense 20:35626631-35626631 - TCGA-13-0730-01 COSM112002 c.1218_1219insT p.A407fs*21 Insertion - Frameshift 20:35627312-35627313 - LUAD-S01409 COSM346610 c.474C>G p.D158E Substitution - Missense 20:35632023-35632023 - TCGA-EB-A5UN-06 COSM3545774 c.390G>C p.G130G Substitution - coding silent 20:35632320-35632320 - TCGA-EE-A29S-06 COSM3545776 c.191C>T p.S64F Substitution - Missense 20:35632650-35632650 - TCGA-BR-6452-01 COSM4097948 c.140C>T p.A47V Substitution - Missense 20:35632799-35632799 - TCGA-ET-A25I-01 COSM3371663 c.976T>C p.W326R Substitution - Missense 20:35630935-35630935 - T31 COSM4988312 c.1254A>G p.Q418Q Substitution - coding silent 20:35626801-35626801 - CHC892T COSM4797838 c.642+1G>A p.? Unknown 20:35631687-35631687 - SNUH_G12_S1 COSM3681179 c.1011A>T p.S337S Substitution - coding silent 20:35630795-35630795 - ME045T COSM229620 c.1106_1107CC>TT p.P369L Substitution - Missense 20:35630449-35630450 - B86-Tumor COSM1751418 c.1011-1G>A p.? Unknown 20:35630796-35630796 - SNUH_G16_S1 COSM3681181 c.1011A>C p.S337S Substitution - coding silent 20:35630795-35630795 - TCGA-04-1644-01 COSM1326780 c.597C>T p.V199V Substitution - coding silent 20:35631733-35631733 - TCGA-BR-8368-01 COSM4097944 c.989G>A p.S330N Substitution - Missense 20:35630922-35630922 - TCGA-AP-A051-01 COSM1026266 c.215G>A p.R72H Substitution - Missense 20:35632626-35632626 - HCT8 COSM2759120 c.734A>C p.E245A Substitution - Missense 20:35631350-35631350 - ESCC_35 COSM5628642 c.1207G>T p.V403L Substitution - Missense 20:35627324-35627324 - 3N50-VS-3T50 COSM4983089 c.64C>G p.L22V Substitution - Missense 20:35632875-35632875 - PT37 COSM5921671 c.208G>A p.E70K Substitution - Missense 20:35632633-35632633 - LOVO COSM2759105 c.1423A>G p.T475A Substitution - Missense 20:35626632-35626632 - HCT15 COSM2759120 c.734A>C p.E245A Substitution - Missense 20:35631350-35631350 - HCC030T COSM5815942 c.901A>T p.N301Y Substitution - Missense 20:35631010-35631010 - SW620 COSM1681650 c.893C>G p.T298S Substitution - Missense 20:35631018-35631018 - TCGA-HU-A4GQ-01 COSM4097939 c.1496G>A p.R499Q Substitution - Missense 20:35626374-35626374 - DLD1 COSM2759114 c.975G>A p.L325L Substitution - coding silent 20:35630936-35630936 - CSCC-2-T COSM4467822 c.150C>T p.G50G Substitution - coding silent 20:35632691-35632691 - TCGA-EE-A29E-06 COSM3545773 c.1051C>T p.P351S Substitution - Missense 20:35630755-35630755 - ME009T COSM224029 c.1399G>A p.D467N Substitution - Missense 20:35626656-35626656 - NOKSI COSM4602868 c.1219_1220insT p.A407fs*21 Insertion - Frameshift 20:35627311-35627312 - CSCC-31-T COSM4494801 c.43C>T p.L15L Substitution - coding silent 20:35632896-35632896 - TCGA-A4-8515-01 COSM3991668 c.1143C>A p.Y381* Substitution - Nonsense 20:35627388-35627388 - CSCC-7-T COSM4489773 c.352C>T p.P118S Substitution - Missense 20:35632358-35632358 - 471 COSM4437823 c.1325G>A p.R442H Substitution - Missense 20:35626730-35626730 - LUAD_E01047 COSM390181 c.116A>T p.Q39L Substitution - Missense 20:35632823-35632823 - TCGA-BT-A0YX-01 COSM419424 c.455G>C p.R152T Substitution - Missense 20:35632179-35632179 - SNUH_G34_S1 COSM3681179 c.1011A>T p.S337S Substitution - coding silent 20:35630795-35630795 - Pat_53_B COSM5857757 c.15+1G>A p.? Unknown 20:35653527-35653527 - 93VU147T COSM4602868 c.1219_1220insT p.A407fs*21 Insertion - Frameshift 20:35627311-35627312 - TCGA-CU-A0YR-01 COSM419425 c.1600A>G p.K534E Substitution - Missense 20:35626270-35626270 - B106-Tumor COSM1751416 c.1515C>A p.T505T Substitution - coding silent 20:35626355-35626355 - 2275_T COSM3963508 c.1447C>T p.R483C Substitution - Missense 20:35626608-35626608 - ESCC_35 COSM5628641 c.1208T>C p.V403A Substitution - Missense 20:35627323-35627323 - TCGA-B5-A11E-01 COSM1026262 c.1439C>A p.A480D Substitution - Missense 20:35626616-35626616 - 587336 COSM1202159 c.623A>G p.N208S Substitution - Missense 20:35631707-35631707 - TCGA-FW-A3R5-06 COSM3911191 c.1168C>T p.L390F Substitution - Missense 20:35627363-35627363 - PD4098a COSM160178 c.336C>G p.S112R Substitution - Missense 20:35632374-35632374 - DLD1 COSM2759120 c.734A>C p.E245A Substitution - Missense 20:35631350-35631350 - BD6T COSM5499407 c.1309C>T p.R437C Substitution - Missense 20:35626746-35626746 - T17 COSM4988312 c.1254A>G p.Q418Q Substitution - coding silent 20:35626801-35626801 - TCGA-BR-8591-01 COSM4097941 c.1103A>G p.N368S Substitution - Missense 20:35630453-35630453 - TCGA-H4-A2HQ-01 COSM1307336 c.483A>T p.G161G Substitution - coding silent 20:35632014-35632014 - SJOS016_D COSM5023441 c.371G>A p.G124E Substitution - Missense 20:35632339-35632339 - TCGA-GV-A3QF-01 COSM3799485 c.817G>A p.V273I Substitution - Missense 20:35631173-35631173 - TCGA-MU-A5YI-01 COSM4855409 c.550G>A p.E184K Substitution - Missense 20:35631947-35631947 - 19 COSM5748162 c.1241G>T p.G414V Substitution - Missense 20:35627290-35627290 - CT-TC COSM4988312 c.1254A>G p.Q418Q Substitution - coding silent 20:35626801-35626801 - pfg143T COSM4097942 c.1007A>G p.D336G Substitution - Missense 20:35630904-35630904 - TCGA-EE-A3JD-06 COSM4395800 c.1616C>T p.A539V Substitution - Missense 20:35626254-35626254 - TTC466 COSM4581759 c.297A>G p.L99L Substitution - coding silent 20:35632544-35632544 - T3535 COSM4674369 c.827_828delAG p.E276fs*32 Deletion - Frameshift 20:35631162-35631163 - TCGA-AA-A010-01 COSM280106 c.1165C>T p.R389C Substitution - Missense 20:35627366-35627366 - CSCC-54-T COSM4490705 c.367C>T p.P123S Substitution - Missense 20:35632343-35632343 - TCGA-BR-8680-01 COSM4097949 c.81C>T p.I27I Substitution - coding silent 20:35632858-35632858 - CHC892T COSM4797838 c.642+1G>A p.? Unknown 20:35631687-35631687 - TCGA-BP-5168-01 COSM478075 c.657T>C p.D219D Substitution - coding silent 20:35631564-35631564 - SNUH_G13_S1 COSM3681181 c.1011A>C p.S337S Substitution - coding silent 20:35630795-35630795 - SNUH_G31_S1 COSM3681179 c.1011A>T p.S337S Substitution - coding silent 20:35630795-35630795 - TCGA-DK-A2I4-01 COSM3799486 c.267G>T p.K89N Substitution - Missense 20:35632574-35632574 - SW620 COSM1681650 c.893C>G p.T298S Substitution - Missense 20:35631018-35631018 - BHY COSM4602868 c.1219_1220insT p.A407fs*21 Insertion - Frameshift 20:35627311-35627312 - RK308_C01 COSM3740103 c.588T>C p.R196R Substitution - coding silent 20:35631742-35631742 - TCGA-EE-A2MI-06 COSM280106 c.1165C>T p.R389C Substitution - Missense 20:35627366-35627366 - HCC48 COSM1615517 c.1019T>G p.L340R Substitution - Missense 20:35630787-35630787 - TCGA-E9-A243-01 COSM1483577 c.1000G>A p.D334N Substitution - Missense 20:35630911-35630911 - T3603 COSM4674368 c.1091_1092insT p.N365fs*4 Insertion - Frameshift 20:35630464-35630465 - sysucc-783T COSM2759129 c.160C>T p.R54W Substitution - Missense 20:35632681-35632681 - TCGA-DD-A4NQ-01 COSM4941033 c.162G>T p.R54R Substitution - coding silent 20:35632679-35632679 - T3610 COSM4674370 c.152G>A p.R51Q Substitution - Missense 20:35632689-35632689 - 587256 COSM1202162 c.385C>T p.R129W Substitution - Missense 20:35632325-35632325 - 587284 COSM1202160 c.1514C>T p.T505I Substitution - Missense 20:35626356-35626356 - TCGA-GN-A268-06 COSM3545771 c.1607C>T p.P536L Substitution - Missense 20:35626263-35626263 - KM12 COSM2759110 c.1024C>T p.P342S Substitution - Missense 20:35630782-35630782 - TCGA-AA-3715-01 COSM268943 c.212A>G p.Y71C Substitution - Missense 20:35632629-35632629 - TCGA-G2-A2EO-01 COSM1307335 c.1547C>T p.S516L Substitution - Missense 20:35626323-35626323 - TCGA-FS-A1ZE-06 COSM3545772 c.1071G>A p.S357S Substitution - coding silent 20:35630485-35630485 - WSU-HN8 COSM4602868 c.1219_1220insT p.A407fs*21 Insertion - Frameshift 20:35627311-35627312 - K-562 COSM1684612 c.260_262delACA p.N88delN Deletion - In frame 20:35632579-35632581 - RMS77_ COSM4988312 c.1254A>G p.Q418Q Substitution - coding silent 20:35626801-35626801 - TCGA-32-4719 COSM2157422 c.1065+2delT p.? Unknown 20:35630739-35630739 - UM-SCC-47 COSM4602868 c.1219_1220insT p.A407fs*21 Insertion - Frameshift 20:35627311-35627312 - CHEWS027 COSM4581758 c.358_361delATGC p.M120fs*1 Deletion - Frameshift 20:35632349-35632352 - CAL33 COSM4602868 c.1219_1220insT p.A407fs*21 Insertion - Frameshift 20:35627311-35627312 - cSCCP4 COSM139185 c.1451A>G p.D484G Substitution - Missense 20:35626604-35626604 - 587376 COSM1202161 c.783G>T p.K261N Substitution - Missense 20:35631301-35631301 - B86-Tumor COSM1751417 c.1075G>T p.E359* Substitution - Nonsense 20:35630481-35630481 - B86 COSM1751418 c.1011-1G>A p.? Unknown 20:35630796-35630796 - TCGA-BR-8284-01 COSM4097940 c.1293G>A p.T431T Substitution - coding silent 20:35626762-35626762 - SS6003323 COSM3414136 c.70G>C p.D24H Substitution - Missense 20:35632869-35632869 - SNUH_G19_S1 COSM3681180 c.1011A>G p.S337S Substitution - coding silent 20:35630795-35630795 - 030T COSM1728368 c.22C>G p.H8D Substitution - Missense 20:35632917-35632917 - TCGA-EE-A29V-06 COSM3545775 c.314C>T p.S105F Substitution - Missense 20:35632527-35632527 - C106 COSM280106 c.1165C>T p.R389C Substitution - Missense 20:35627366-35627366 - B86 COSM1751417 c.1075G>T p.E359* Substitution - Nonsense 20:35630481-35630481 - HCT116 COSM1681649 c.1366G>T p.G456C Substitution - Missense 20:35626689-35626689 - UPCI:SCC090 COSM4602868 c.1219_1220insT p.A407fs*21 Insertion - Frameshift 20:35627311-35627312 - Pat_16_B COSM5857757 c.15+1G>A p.? Unknown 20:35653527-35653527 - PT24_1 COSM5904491 c.205C>T p.L69F Substitution - Missense 20:35632636-35632636 - TCGA-CG-5733-01 COSM4097938 c.1515C>T p.T505T Substitution - coding silent 20:35626355-35626355 - TCGA-EE-A2GR-06 COSM3545777 c.142G>A p.E48K Substitution - Missense 20:35632797-35632797 - PTC-7C COSM4134477 c.1055C>G p.P352R Substitution - Missense 20:35630751-35630751 - SCC-9 COSM4602868 c.1219_1220insT p.A407fs*21 Insertion - Frameshift 20:35627311-35627312 - PD18283a COSM3770515 c.1448G>A p.R483H Substitution - Missense 20:35626607-35626607 - TCGA-BR-8361-01 COSM4097943 c.991G>A p.V331M Substitution - Missense 20:35630920-35630920 - B106 COSM1751416 c.1515C>A p.T505T Substitution - coding silent 20:35626355-35626355 - TCGA-D1-A103-01 COSM1026273 c.15C>T p.H5H Substitution - coding silent 20:35653528-35653528 - I2L-P10-Tumor-Organoid COSM5365857 c.600C>T p.P200P Substitution - coding silent 20:35631730-35631730 - A498 COSM1683557 c.338_339insG p.V114fs*43 Insertion - Frameshift 20:35632371-35632372 - CHC1154T COSM4952177 c.1043C>T p.A348V Substitution - Missense 20:35630763-35630763 - TCGA-D1-A167-01 COSM185982 c.1522G>A p.A508T Substitution - Missense 20:35626348-35626348 - TCGA-BH-A0HF-01 COSM3840879 c.1263G>A p.M421I Substitution - Missense 20:35626792-35626792 - PTC-7C COSM5446387 c.1215_1216insT p.A407fs*21 Insertion - Frameshift 20:35627315-35627316 - C086 COSM5529134 c.926C>T p.S309F Substitution - Missense 20:35630985-35630985 - TCGA-BR-8487-01 COSM4097946 c.435A>G p.V145V Substitution - coding silent 20:35632199-35632199 - CSCC-16-T COSM4525461 c.1332G>A p.S444S Substitution - coding silent 20:35626723-35626723 - TCGA-18-3409-01 COSM723900 c.834C>T p.S278S Substitution - coding silent 20:35631156-35631156 - SNUH_G29_S1 COSM3681181 c.1011A>C p.S337S Substitution - coding silent 20:35630795-35630795 - TCGA-CG-4305-01 COSM4097942 c.1007A>G p.D336G Substitution - Missense 20:35630904-35630904 - Au4 COSM5603278 c.639C>T p.I213I Substitution - coding silent 20:35631691-35631691 - TCGA-B5-A11R-01 COSM1026264 c.409C>T p.Q137* Substitution - Nonsense 20:35632225-35632225 - HCT-116 COSM1681649 c.1366G>T p.G456C Substitution - Missense 20:35626689-35626689 - TCGA-D5-6532-01 COSM1411448 c.1311T>A p.R437R Substitution - coding silent 20:35626744-35626744 - HN22PT COSM97991 c.914C>G p.S305C Substitution - Missense 20:35630997-35630997 - TCGA-HU-A4GQ-01 COSM4097945 c.974T>C p.L325P Substitution - Missense 20:35630937-35630937 - TCGA-EJ-7125-01 COSM3673106 c.167G>T p.R56L Substitution - Missense 20:35632674-35632674 - TCGA-BR-8590-01 COSM4097947 c.399G>A p.T133T Substitution - coding silent 20:35632311-35632311 - TCGA-B2-3924-01 COSM478074 c.1313A>C p.E438A Substitution - Missense 20:35626742-35626742 - HCC48T COSM1615517 c.1019T>G p.L340R Substitution - Missense 20:35630787-35630787 - TCGA-59-2372-01 COSM1326779 c.515A>T p.Q172L Substitution - Missense 20:35631982-35631982 - PD22360a COSM5784202 c.1578C>G p.L526L Substitution - coding silent 20:35626292-35626292 - WSU-HN12 COSM4602868 c.1219_1220insT p.A407fs*21 Insertion - Frameshift 20:35627311-35627312 - HCT15 COSM2759114 c.975G>A p.L325L Substitution - coding silent 20:35630936-35630936 - SMS-CTR COSM4988312 c.1254A>G p.Q418Q Substitution - coding silent 20:35626801-35626801 - CSCC-31-T COSM4564994 c.1617_1618CC>TT p.P540S Substitution - Missense 20:35626252-35626253 - T23 COSM280106 c.1165C>T p.R389C Substitution - Missense 20:35627366-35627366 - C086 COSM723900 c.834C>T p.S278S Substitution - coding silent 20:35631156-35631156 - CHC1154T COSM4952177 c.1043C>T p.A348V Substitution - Missense 20:35630763-35630763 - SNUH_G08_S1 COSM3681179 c.1011A>T p.S337S Substitution - coding silent 20:35630795-35630795 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.246413 20q11.22 604205 2422119|CGAP|BC001142|C/T|non-coding||1988|Candidate; 2422121|CGAP|BC001142|A/T|non-coding||1980|Candidate; 2422122|CGAP|BC001142|A/C|non-coding||2088|Candidate; 2425626|dbSNP|BC001142|C/T|coding|Ser332Leu|1317|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.W326R c.976T>C 20 34218857 THCA A G Synonymous p.D219D c.657T>C 20 34219486 RCCC C A Missense p.K89N c.267G>T 20 34220496 BLCA C A Missense p.R499L c.1496G>T 20 34214296 LUAD C A Synonymous p.G317G c.951G>T 20 34218882 LUAD C G Missense p.R152T c.455G>C 20 34220101 BLCA C T Missense p.A508T c.1522G>A 20 34214270 COREAD C T Missense p.D334N c.1000G>A 20 34218833 BRCA C T Missense p.D467N c.1399G>A 20 34214578 CM C T Missense p.E48K c.142G>A 20 34220719 CM C T Missense p.G299D c.896G>A 20 34218937 ALL C T Synonymous p.S357S c.1071G>A 20 34218407 CM G A IntronicSNV . c.1066-3C>T 20 34218415 CM G A IntronicSNV . c.1118-36C>T 20 34215371 CM G A Missense p.A539V c.1616C>T 20 34214176 CM G A Missense p.P530S c.1588C>T 20 34214204 CM G A Missense p.P536L c.1607C>T 20 34214185 CM G A Missense p.R389C c.1165C>T 20 34215288 BRCA G A Missense p.R389C c.1165C>T 20 34215288 CM G A Missense p.R499W c.1495C>T 20 34214297 HNSC G A Missense p.S105F c.314C>T 20 34220449 CM G A Missense p.S516L c.1547C>T 20 34214245 BLCA G A Missense p.S64F c.191C>T 20 34220572 CM G A Nonsense p.Q137* c.409C>T 20 34220147 UCEC G A Synonymous p.I27I c.81C>T 20 34220780 THCA G A Synonymous p.S309S c.927C>T 20 34218906 CM G A Synonymous p.T505T c.1515C>T 20 34214277 STAD G C Missense p.S112R c.336C>G 20 34220296 BRCA G C Missense p.S16C c.47C>G 20 34220814 LUAD G C Missense p.S31C c.92C>G 20 34220769 BRCA GG AA Missense p.P192S c.573_574delinsTT 20 34219678 CM GG AA Missense p.P369L c.1106_1107delinsTT 20 34218371 CM T A Synonymous p.G161G c.483A>T 20 34219936 BLCA T C IntronicSNV . c.400-16A>G 20 34220172 BRCA T C Missense p.D336G c.1007A>G 20 34218826 STAD T C Missense p.K534E c.1600A>G 20 34214192 BLCA T G Missense p.E438A c.1313A>C 20 34214664 RCCC