Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 13 50123622 50123622 + Silent SNP G G C TCGA-OR-A5J7-01A-11D-A29I-10 TCGA-OR-A5J7-10A-01D-A29L-10 g.chr13:50123622G>C c.1017C>G c.(1015-1017)ccC>ccG p.P339P BLCA 13 50115073 50115073 + Missense_Mutation SNP C C G TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr13:50115073C>G c.1394G>C c.(1393-1395)aGa>aCa p.R465T BLCA 13 50115113 50115113 + Missense_Mutation SNP C C T TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr13:50115113C>T c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K BLCA 13 50125590 50125590 + Silent SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr13:50125590G>A c.726C>T c.(724-726)taC>taT p.Y242Y BLCA 13 50129739 50129739 + Missense_Mutation SNP C C T TCGA-C4-A0F7-01A-11D-A10S-08 TCGA-C4-A0F7-10A-01D-A10S-08 g.chr13:50129739C>T c.515G>A c.(514-516)cGa>cAa p.R172Q BLCA 13 50141409 50141409 + Missense_Mutation SNP C C A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr13:50141409C>A c.7G>T c.(7-9)Gat>Tat p.D3Y BRCA 13 50108389 50108389 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 g.chr13:50108389C>G c.1465G>C c.(1465-1467)Gaa>Caa p.E489Q BRCA 13 50123782 50123782 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr13:50123782A>C c.857T>G c.(856-858)gTg>gGg p.V286G BRCA 13 50129757 50129757 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr13:50129757G>C c.497C>G c.(496-498)gCa>gGa p.A166G BRCA 13 50134175 50134175 + Missense_Mutation SNP C C A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 g.chr13:50134175C>A c.323G>T c.(322-324)gGg>gTg p.G108V BRCA 13 50141327 50141327 + Missense_Mutation SNP G G A TCGA-BH-A0AW-01A-11W-A071-09 TCGA-BH-A0AW-10A-01W-A071-09 g.chr13:50141327G>A c.89C>T c.(88-90)tCa>tTa p.S30L COAD 13 50115897 50115897 + Silent SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr13:50115897G>A c.1239C>T c.(1237-1239)atC>atT p.I413I COAD 13 50134090 50134090 + Silent SNP G G T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr13:50134090G>T c.408C>A c.(406-408)ggC>ggA p.G136G COAD 13 50134143 50134143 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr13:50134143C>T c.355G>A c.(355-357)Gtc>Atc p.V119I COAD 13 50141334 50141334 + Missense_Mutation SNP C C T TCGA-A6-5664-01A-21D-1835-10 TCGA-A6-5664-10A-01D-1835-10 g.chr13:50141334C>T c.82G>A c.(82-84)Ggc>Agc p.G28S COADREAD 13 50115897 50115897 + Silent SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr13:50115897G>A c.1239C>T c.(1237-1239)atC>atT p.I413I COADREAD 13 50134090 50134090 + Silent SNP G G T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr13:50134090G>T c.408C>A c.(406-408)ggC>ggA p.G136G COADREAD 13 50134143 50134143 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr13:50134143C>T c.355G>A c.(355-357)Gtc>Atc p.V119I COADREAD 13 50141334 50141334 + Missense_Mutation SNP C C T TCGA-A6-5664-01A-21D-1835-10 TCGA-A6-5664-10A-01D-1835-10 g.chr13:50141334C>T c.82G>A c.(82-84)Ggc>Agc p.G28S GBM 13 50140816 50140816 + Missense_Mutation SNP C C T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 g.chr13:50140816C>T c.215G>A c.(214-216)tGt>tAt p.C72Y GBMLGG 13 50123697 50123697 + Silent SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 g.chr13:50123697C>T c.942G>A c.(940-942)cgG>cgA p.R314R GBMLGG 13 50134077 50134077 + Missense_Mutation SNP T T C TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 g.chr13:50134077T>C c.421A>G c.(421-423)Atg>Gtg p.M141V GBMLGG 13 50140816 50140816 + Missense_Mutation SNP C C T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 g.chr13:50140816C>T c.215G>A c.(214-216)tGt>tAt p.C72Y HNSC 13 50108311 50108311 + Silent SNP G G A TCGA-BA-A6DF-01A-11D-A30E-08 TCGA-BA-A6DF-10A-01D-A30H-08 g.chr13:50108311G>A c.1543C>T c.(1543-1545)Ctg>Ttg p.L515L HNSC 13 50123614 50123614 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr13:50123614G>A c.1025C>T c.(1024-1026)tCg>tTg p.S342L HNSC 13 50123786 50123786 + Splice_Site SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 g.chr13:50123786T>C c.e9-2 HNSC 13 50125565 50125565 + Missense_Mutation SNP C C T TCGA-BB-4223-01A-01D-1434-08 TCGA-BB-4223-10A-01D-1434-08 g.chr13:50125565C>T c.751G>A c.(751-753)Gag>Aag p.E251K KIPAN 13 50115836 50115836 + Frame_Shift_Del DEL C C - TCGA-DZ-6132-01A-11D-1961-08 TCGA-DZ-6132-11A-01D-1961-08 g.chr13:50115836delC c.1300delG c.(1300-1302)gacfs p.D434fs KIPAN 13 50134123 50134123 + Silent SNP G G C TCGA-IA-A40Y-01A-11D-A25F-10 TCGA-IA-A40Y-10A-01D-A25F-10 g.chr13:50134123G>C c.375C>G c.(373-375)ctC>ctG p.L125L KIRP 13 50115836 50115836 + Frame_Shift_Del DEL C C - TCGA-DZ-6132-01A-11D-1961-08 TCGA-DZ-6132-11A-01D-1961-08 g.chr13:50115836delC c.1300delG c.(1300-1302)gacfs p.D434fs KIRP 13 50134123 50134123 + Silent SNP G G C TCGA-IA-A40Y-01A-11D-A25F-10 TCGA-IA-A40Y-10A-01D-A25F-10 g.chr13:50134123G>C c.375C>G c.(373-375)ctC>ctG p.L125L LGG 13 50123697 50123697 + Silent SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 g.chr13:50123697C>T c.942G>A c.(940-942)cgG>cgA p.R314R LGG 13 50134077 50134077 + Missense_Mutation SNP T T C TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 g.chr13:50134077T>C c.421A>G c.(421-423)Atg>Gtg p.M141V LIHC 13 50118925 50118925 + Missense_Mutation SNP A A G TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr13:50118925A>G c.1120T>C c.(1120-1122)Ttt>Ctt p.F374L LUAD 13 50108290 50108290 + Missense_Mutation SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr13:50108290T>G c.1564A>C c.(1564-1566)Aaa>Caa p.K522Q LUAD 13 50115948 50115948 + Silent SNP T T A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr13:50115948T>A c.1188A>T c.(1186-1188)cgA>cgT p.R396R LUAD 13 50123709 50123709 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 g.chr13:50123709C>G c.930G>C c.(928-930)tgG>tgC p.W310C LUAD 13 50123718 50123718 + Silent SNP C C A TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr13:50123718C>A c.921G>T c.(919-921)gtG>gtT p.V307V LUAD 13 50129684 50129684 + Missense_Mutation SNP C C A TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr13:50129684C>A c.570G>T c.(568-570)caG>caT p.Q190H LUAD 13 50141335 50141335 + Silent SNP G G A TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr13:50141335G>A c.81C>T c.(79-81)ttC>ttT p.F27F LUSC 13 50115024 50115024 + Missense_Mutation SNP T T G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr13:50115024T>G c.1443A>C c.(1441-1443)agA>agC p.R481S LUSC 13 50115118 50115118 + Missense_Mutation SNP T T A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 g.chr13:50115118T>A c.1349A>T c.(1348-1350)tAc>tTc p.Y450F LUSC 13 50123776 50123776 + Missense_Mutation SNP T T A TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr13:50123776T>A c.863A>T c.(862-864)gAg>gTg p.E288V LUSC 13 50134125 50134125 + Missense_Mutation SNP G G A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 g.chr13:50134125G>A c.373C>T c.(373-375)Ctc>Ttc p.L125F PAAD 13 50125569 50125569 + Silent SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:50125569T>C c.747A>G c.(745-747)acA>acG p.T249T PAAD 13 50141409 50141409 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:50141409C>T c.7G>A c.(7-9)Gat>Aat p.D3N PRAD 13 50123715 50123715 + Silent SNP G G A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 g.chr13:50123715G>A c.924C>T c.(922-924)taC>taT p.Y308Y SARC 13 50123666 50123666 + Missense_Mutation SNP G G T TCGA-SI-A71O-01A-12D-A33E-09 TCGA-SI-A71O-10A-01D-A33H-09 g.chr13:50123666G>T c.973C>A c.(973-975)Cac>Aac p.H325N SARC 13 50129763 50129763 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr13:50129763G>A c.491C>T c.(490-492)tCt>tTt p.S164F SKCM 13 50115837 50115837 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr13:50115837G>A c.1299C>T c.(1297-1299)gtC>gtT p.V433V SKCM 13 50123648 50123648 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr13:50123648C>T c.991G>A c.(991-993)Gac>Aac p.D331N SKCM 13 50123659 50123659 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr13:50123659G>A c.980C>T c.(979-981)tCc>tTc p.S327F SKCM 13 50134104 50134104 + Frame_Shift_Del DEL C C - TCGA-D3-A5GS-06A-11D-A27K-08 TCGA-D3-A5GS-10A-01D-A27N-08 g.chr13:50134104delC c.394delG c.(394-396)gaafs p.E132fs SKCM 13 50140794 50140794 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr13:50140794G>A c.237C>T c.(235-237)ctC>ctT p.L79L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 13 50129739 50129739 single base substitution C T missense_variant R172Q 515G>A BLCA-US 13 50129739 50129739 single base substitution C T upstream_gene_variant BOCA-FR 13 50126439 50126439 single base substitution G A intron_variant BOCA-FR 13 50126439 50126439 single base substitution G A upstream_gene_variant BOCA-FR 13 50162458 50162458 single base substitution G A upstream_gene_variant BRCA-EU 13 50101497 50101497 single base substitution G T downstream_gene_variant BRCA-EU 13 50104261 50104261 single base substitution C T downstream_gene_variant BRCA-EU 13 50108491 50108491 single base substitution A T intron_variant BRCA-EU 13 50108727 50108727 single base substitution G A intron_variant BRCA-EU 13 50108921 50108921 single base substitution G A intron_variant BRCA-EU 13 50112263 50112263 single base substitution C T intron_variant BRCA-EU 13 50113044 50113044 single base substitution C G intron_variant BRCA-EU 13 50114355 50114355 single base substitution G T intron_variant BRCA-EU 13 50114355 50114355 single base substitution G T upstream_gene_variant BRCA-EU 13 50117301 50117301 single base substitution G T downstream_gene_variant BRCA-EU 13 50117301 50117301 single base substitution G T intron_variant BRCA-EU 13 50117301 50117301 single base substitution G T upstream_gene_variant BRCA-EU 13 50117854 50117854 single base substitution T G downstream_gene_variant BRCA-EU 13 50117854 50117854 single base substitution T G intron_variant BRCA-EU 13 50117854 50117854 single base substitution T G upstream_gene_variant BRCA-EU 13 50117897 50117897 single base substitution C T downstream_gene_variant BRCA-EU 13 50117897 50117897 single base substitution C T intron_variant BRCA-EU 13 50117897 50117897 single base substitution C T upstream_gene_variant BRCA-EU 13 50118500 50118500 single base substitution G C downstream_gene_variant BRCA-EU 13 50118500 50118500 single base substitution G C intron_variant BRCA-EU 13 50118500 50118500 single base substitution G C upstream_gene_variant BRCA-EU 13 50119104 50119104 deletion of <=200bp T - downstream_gene_variant BRCA-EU 13 50119104 50119104 deletion of <=200bp T - intron_variant BRCA-EU 13 50119315 50119315 single base substitution C G downstream_gene_variant BRCA-EU 13 50119315 50119315 single base substitution C G intron_variant BRCA-EU 13 50120281 50120281 deletion of <=200bp A - downstream_gene_variant BRCA-EU 13 50120281 50120281 deletion of <=200bp A - intron_variant BRCA-EU 13 50121467 50121467 single base substitution T A downstream_gene_variant BRCA-EU 13 50121467 50121467 single base substitution T A intron_variant BRCA-EU 13 50127212 50127212 single base substitution G T intron_variant BRCA-EU 13 50127212 50127212 single base substitution G T upstream_gene_variant BRCA-EU 13 50132105 50132105 single base substitution A C intron_variant BRCA-EU 13 50134735 50134735 single base substitution G C intron_variant BRCA-EU 13 50135404 50135404 single base substitution C T intron_variant BRCA-EU 13 50136992 50136992 single base substitution C T intron_variant BRCA-EU 13 50139005 50139005 single base substitution C T intron_variant BRCA-EU 13 50139200 50139200 single base substitution A G intron_variant BRCA-EU 13 50139578 50139578 single base substitution C A intron_variant BRCA-EU 13 50141656 50141656 single base substitution A G intron_variant BRCA-EU 13 50141656 50141656 single base substitution A G upstream_gene_variant BRCA-EU 13 50142453 50142453 single base substitution C T intron_variant BRCA-EU 13 50142453 50142453 single base substitution C T upstream_gene_variant BRCA-EU 13 50143047 50143047 single base substitution G T intron_variant BRCA-EU 13 50143047 50143047 single base substitution G T upstream_gene_variant BRCA-EU 13 50143779 50143779 single base substitution G A intron_variant BRCA-EU 13 50143779 50143779 single base substitution G A upstream_gene_variant BRCA-EU 13 50144221 50144221 single base substitution A C intron_variant BRCA-EU 13 50144221 50144221 single base substitution A C upstream_gene_variant BRCA-EU 13 50146921 50146921 single base substitution G A intron_variant BRCA-EU 13 50149798 50149798 single base substitution G C intron_variant BRCA-EU 13 50150301 50150301 single base substitution C T intron_variant BRCA-EU 13 50150841 50150841 single base substitution T A intron_variant BRCA-EU 13 50152139 50152139 single base substitution T C intron_variant BRCA-EU 13 50152960 50152960 deletion of <=200bp T - intron_variant BRCA-EU 13 50153914 50153914 single base substitution T C intron_variant BRCA-EU 13 50155244 50155244 single base substitution G T intron_variant BRCA-EU 13 50157083 50157083 single base substitution C T intron_variant BRCA-EU 13 50161509 50161509 single base substitution G C upstream_gene_variant BRCA-EU 13 50161783 50161783 single base substitution A T upstream_gene_variant BRCA-EU 13 50162572 50162572 single base substitution C T upstream_gene_variant BRCA-EU 13 50164277 50164277 single base substitution A G upstream_gene_variant BRCA-FR 13 50108491 50108491 single base substitution A T intron_variant BRCA-FR 13 50126973 50126973 single base substitution A C intron_variant BRCA-FR 13 50126973 50126973 single base substitution A C upstream_gene_variant BRCA-FR 13 50135667 50135667 single base substitution G C intron_variant BRCA-UK 13 50101990 50101990 single base substitution G A downstream_gene_variant BRCA-UK 13 50115270 50115270 single base substitution G C intron_variant BRCA-UK 13 50115270 50115270 single base substitution G C upstream_gene_variant BRCA-UK 13 50123053 50123053 single base substitution G A downstream_gene_variant BRCA-UK 13 50123053 50123053 single base substitution G A intron_variant BRCA-UK 13 50145736 50145736 single base substitution G T intron_variant BRCA-UK 13 50145736 50145736 single base substitution G T upstream_gene_variant BRCA-US 13 50108389 50108389 single base substitution C G exon_variant BRCA-US 13 50108389 50108389 single base substitution C G missense_variant E489Q 1465G>C BRCA-US 13 50123782 50123782 single base substitution A C downstream_gene_variant BRCA-US 13 50123782 50123782 single base substitution A C missense_variant V286G 857T>G BRCA-US 13 50129757 50129757 single base substitution G C missense_variant A166G 497C>G BRCA-US 13 50129757 50129757 single base substitution G C upstream_gene_variant BRCA-US 13 50134175 50134175 single base substitution C A missense_variant G108V 323G>T BRCA-US 13 50141327 50141327 single base substitution G A missense_variant S30L 89C>T BTCA-JP 13 50108413 50108413 single base substitution A C intron_variant BTCA-JP 13 50141458 50141458 single base substitution T G 5_prime_UTR_variant BTCA-JP 13 50141458 50141458 single base substitution T G splice_acceptor_variant CLLE-ES 13 50101924 50101924 single base substitution T G downstream_gene_variant CLLE-ES 13 50102120 50102120 single base substitution A G downstream_gene_variant CLLE-ES 13 50110555 50110555 single base substitution C T intron_variant CLLE-ES 13 50113899 50113899 single base substitution T C intron_variant CLLE-ES 13 50113899 50113899 single base substitution T C upstream_gene_variant CLLE-ES 13 50114923 50114923 single base substitution A G intron_variant CLLE-ES 13 50114923 50114923 single base substitution A G upstream_gene_variant CLLE-ES 13 50126097 50126097 single base substitution T G intron_variant CLLE-ES 13 50140411 50140411 deletion of <=200bp T - intron_variant COAD-US 13 50123622 50123622 single base substitution G C downstream_gene_variant COAD-US 13 50123622 50123622 single base substitution G C synonymous_variant P339P 1017C>G COAD-US 13 50123688 50123688 single base substitution G A downstream_gene_variant COAD-US 13 50123688 50123688 single base substitution G A synonymous_variant S317S 951C>T COCA-CN 13 50102992 50102992 single base substitution T C downstream_gene_variant COCA-CN 13 50115071 50115071 single base substitution C A stop_gained G466* 1396G>T COCA-CN 13 50115071 50115071 single base substitution C A upstream_gene_variant COCA-CN 13 50123649 50123649 single base substitution G A downstream_gene_variant COCA-CN 13 50123649 50123649 single base substitution G A synonymous_variant D330D 990C>T COCA-CN 13 50129818 50129818 single base substitution G T intron_variant COCA-CN 13 50129818 50129818 single base substitution G T upstream_gene_variant COCA-CN 13 50131903 50131903 single base substitution T A intron_variant COCA-CN 13 50139940 50139940 single base substitution C T intron_variant COCA-CN 13 50139950 50139950 single base substitution G A intron_variant COCA-CN 13 50141412 50141412 single base substitution C A missense_variant V2L 4G>T ESAD-UK 13 50103589 50103589 single base substitution C A downstream_gene_variant ESAD-UK 13 50105837 50105837 single base substitution G A downstream_gene_variant ESAD-UK 13 50105957 50105957 single base substitution T C downstream_gene_variant ESAD-UK 13 50105979 50105979 single base substitution G A downstream_gene_variant ESAD-UK 13 50107648 50107648 single base substitution T C 3_prime_UTR_variant ESAD-UK 13 50107648 50107648 single base substitution T C downstream_gene_variant ESAD-UK 13 50107809 50107809 single base substitution C T 3_prime_UTR_variant ESAD-UK 13 50107809 50107809 single base substitution C T downstream_gene_variant ESAD-UK 13 50108433 50108433 deletion of <=200bp T - intron_variant ESAD-UK 13 50111494 50111494 single base substitution T A intron_variant ESAD-UK 13 50114421 50114421 insertion of <=200bp - A intron_variant ESAD-UK 13 50114421 50114421 insertion of <=200bp - A upstream_gene_variant ESAD-UK 13 50116025 50116025 single base substitution T A downstream_gene_variant ESAD-UK 13 50116025 50116025 single base substitution T A intron_variant ESAD-UK 13 50116025 50116025 single base substitution T A upstream_gene_variant ESAD-UK 13 50118006 50118006 single base substitution A T downstream_gene_variant ESAD-UK 13 50118006 50118006 single base substitution A T intron_variant ESAD-UK 13 50118006 50118006 single base substitution A T upstream_gene_variant ESAD-UK 13 50121868 50121868 single base substitution A C downstream_gene_variant ESAD-UK 13 50121868 50121868 single base substitution A C intron_variant ESAD-UK 13 50124048 50124048 single base substitution G T downstream_gene_variant ESAD-UK 13 50124048 50124048 single base substitution G T intron_variant ESAD-UK 13 50124968 50124968 single base substitution G A downstream_gene_variant ESAD-UK 13 50124968 50124968 single base substitution G A intron_variant ESAD-UK 13 50127801 50127801 single base substitution G C intron_variant ESAD-UK 13 50127801 50127801 single base substitution G C upstream_gene_variant ESAD-UK 13 50128126 50128126 single base substitution T A intron_variant ESAD-UK 13 50128126 50128126 single base substitution T A upstream_gene_variant ESAD-UK 13 50129512 50129512 single base substitution C T intron_variant ESAD-UK 13 50129512 50129512 single base substitution C T upstream_gene_variant ESAD-UK 13 50130786 50130786 single base substitution G A intron_variant ESAD-UK 13 50130786 50130786 single base substitution G A upstream_gene_variant ESAD-UK 13 50131492 50131502 deletion of <=200bp AGGAAATGGAG - intron_variant ESAD-UK 13 50131912 50131912 single base substitution T A intron_variant ESAD-UK 13 50133870 50133870 single base substitution G A intron_variant ESAD-UK 13 50134611 50134611 single base substitution G T intron_variant ESAD-UK 13 50140920 50140920 insertion of <=200bp - T intron_variant ESAD-UK 13 50141971 50141971 single base substitution G A intron_variant ESAD-UK 13 50141971 50141971 single base substitution G A upstream_gene_variant ESAD-UK 13 50142669 50142669 single base substitution C A intron_variant ESAD-UK 13 50142669 50142669 single base substitution C A upstream_gene_variant ESAD-UK 13 50143070 50143070 insertion of <=200bp - A intron_variant ESAD-UK 13 50143070 50143070 insertion of <=200bp - A upstream_gene_variant ESAD-UK 13 50143720 50143720 single base substitution C T intron_variant ESAD-UK 13 50143720 50143720 single base substitution C T upstream_gene_variant ESAD-UK 13 50146336 50146336 single base substitution A C intron_variant ESAD-UK 13 50146336 50146336 single base substitution A C upstream_gene_variant ESAD-UK 13 50149532 50149532 single base substitution G T intron_variant ESAD-UK 13 50150362 50150362 single base substitution A G intron_variant ESAD-UK 13 50150477 50150477 single base substitution T C intron_variant ESAD-UK 13 50153670 50153670 single base substitution G A intron_variant ESAD-UK 13 50154002 50154002 single base substitution A G intron_variant ESAD-UK 13 50155225 50155225 single base substitution C A intron_variant ESAD-UK 13 50156168 50156168 single base substitution G A intron_variant ESAD-UK 13 50156348 50156348 single base substitution C T intron_variant ESAD-UK 13 50156716 50156716 single base substitution G A intron_variant ESAD-UK 13 50160394 50160394 single base substitution G A upstream_gene_variant ESAD-UK 13 50160496 50160496 single base substitution A C upstream_gene_variant ESAD-UK 13 50162797 50162797 single base substitution C T upstream_gene_variant ESAD-UK 13 50164166 50164166 single base substitution C T upstream_gene_variant ESCA-CN 13 50134159 50134159 single base substitution G A synonymous_variant N113N 339C>T GBM-US 13 50140816 50140816 single base substitution C T missense_variant C72Y 215G>A KIRP-US 13 50115836 50115836 deletion of <=200bp C - downstream_gene_variant KIRP-US 13 50115836 50115836 deletion of <=200bp C - frameshift_variant D434 KIRP-US 13 50115836 50115836 deletion of <=200bp C - upstream_gene_variant KIRP-US 13 50134123 50134123 single base substitution G C synonymous_variant L125L 375C>G LAML-KR 13 50123622 50123622 single base substitution G C downstream_gene_variant LAML-KR 13 50123622 50123622 single base substitution G C synonymous_variant P339P 1017C>G LAML-KR 13 50147876 50147876 single base substitution G A intron_variant LAML-KR 13 50148286 50148286 single base substitution A G intron_variant LGG-US 13 50134077 50134077 single base substitution T C missense_variant M141V 421A>G LICA-FR 13 50101191 50101191 insertion of <=200bp - AAA downstream_gene_variant LICA-FR 13 50126417 50126417 single base substitution T C missense_variant Y203C 608A>G LICA-FR 13 50126417 50126417 single base substitution T C upstream_gene_variant LICA-FR 13 50128070 50128070 single base substitution C T intron_variant LICA-FR 13 50128070 50128070 single base substitution C T upstream_gene_variant LICA-FR 13 50129731 50129731 deletion of <=200bp T - frameshift_variant T175 LICA-FR 13 50129731 50129731 deletion of <=200bp T - upstream_gene_variant LICA-FR 13 50139940 50139940 single base substitution C T intron_variant LICA-FR 13 50141355 50141355 single base substitution T C missense_variant I21V 61A>G LICA-FR 13 50144950 50144950 single base substitution C G intron_variant LICA-FR 13 50144950 50144950 single base substitution C G upstream_gene_variant LICA-FR 13 50151232 50151232 single base substitution G A intron_variant LICA-FR 13 50157131 50157131 single base substitution A G intron_variant LIHC-US 13 50118925 50118925 single base substitution A G downstream_gene_variant LIHC-US 13 50118925 50118925 single base substitution A G missense_variant F374L 1120T>C LINC-JP 13 50108967 50108967 single base substitution C A intron_variant LINC-JP 13 50116614 50116614 single base substitution G A downstream_gene_variant LINC-JP 13 50116614 50116614 single base substitution G A intron_variant LINC-JP 13 50116614 50116614 single base substitution G A upstream_gene_variant LINC-JP 13 50116843 50116843 insertion of <=200bp - T downstream_gene_variant LINC-JP 13 50116843 50116843 insertion of <=200bp - T intron_variant LINC-JP 13 50116843 50116843 insertion of <=200bp - T upstream_gene_variant LINC-JP 13 50118738 50118738 single base substitution G C downstream_gene_variant LINC-JP 13 50118738 50118738 single base substitution G C intron_variant LINC-JP 13 50129793 50129793 single base substitution T C missense_variant Y154C 461A>G LINC-JP 13 50129793 50129793 single base substitution T C upstream_gene_variant LINC-JP 13 50134246 50134246 single base substitution T A intron_variant LINC-JP 13 50134749 50134749 deletion of <=200bp T - intron_variant LINC-JP 13 50135456 50135456 single base substitution G A intron_variant LINC-JP 13 50137483 50137483 single base substitution C T intron_variant LINC-JP 13 50142790 50142790 deletion of <=200bp A - intron_variant LINC-JP 13 50142790 50142790 deletion of <=200bp A - upstream_gene_variant LINC-JP 13 50162559 50162559 single base substitution T A upstream_gene_variant LINC-JP 13 50163564 50163564 single base substitution G A upstream_gene_variant LIRI-JP 13 50102346 50102346 single base substitution T A downstream_gene_variant LIRI-JP 13 50105568 50105568 single base substitution A G downstream_gene_variant LIRI-JP 13 50106476 50106476 single base substitution G T 3_prime_UTR_variant LIRI-JP 13 50106476 50106476 single base substitution G T downstream_gene_variant LIRI-JP 13 50106888 50106888 deletion of <=200bp A - 3_prime_UTR_variant LIRI-JP 13 50106888 50106888 deletion of <=200bp A - downstream_gene_variant LIRI-JP 13 50112454 50112454 single base substitution A C intron_variant LIRI-JP 13 50117086 50117086 single base substitution G C downstream_gene_variant LIRI-JP 13 50117086 50117086 single base substitution G C intron_variant LIRI-JP 13 50117086 50117086 single base substitution G C upstream_gene_variant LIRI-JP 13 50117751 50117751 single base substitution T G downstream_gene_variant LIRI-JP 13 50117751 50117751 single base substitution T G intron_variant LIRI-JP 13 50117751 50117751 single base substitution T G upstream_gene_variant LIRI-JP 13 50124277 50124277 single base substitution G T downstream_gene_variant LIRI-JP 13 50124277 50124277 single base substitution G T intron_variant LIRI-JP 13 50125618 50125618 single base substitution G C intron_variant LIRI-JP 13 50127094 50127094 single base substitution C T intron_variant LIRI-JP 13 50127094 50127094 single base substitution C T upstream_gene_variant LIRI-JP 13 50127442 50127442 single base substitution A G intron_variant LIRI-JP 13 50127442 50127442 single base substitution A G upstream_gene_variant LIRI-JP 13 50127450 50127450 single base substitution A G intron_variant LIRI-JP 13 50127450 50127450 single base substitution A G upstream_gene_variant LIRI-JP 13 50129579 50129579 single base substitution T C intron_variant LIRI-JP 13 50129579 50129579 single base substitution T C upstream_gene_variant LIRI-JP 13 50130705 50130705 single base substitution T A intron_variant LIRI-JP 13 50130705 50130705 single base substitution T A upstream_gene_variant LIRI-JP 13 50132657 50132657 single base substitution G A intron_variant LIRI-JP 13 50134227 50134227 single base substitution A G splice_region_variant LIRI-JP 13 50135032 50135032 single base substitution G A intron_variant LIRI-JP 13 50135658 50135658 single base substitution C T intron_variant LIRI-JP 13 50135985 50135985 single base substitution T C intron_variant LIRI-JP 13 50138015 50138015 single base substitution G T intron_variant LIRI-JP 13 50140347 50140347 single base substitution G A intron_variant LIRI-JP 13 50142732 50142732 single base substitution G T intron_variant LIRI-JP 13 50142732 50142732 single base substitution G T upstream_gene_variant LIRI-JP 13 50143469 50143469 single base substitution G T intron_variant LIRI-JP 13 50143469 50143469 single base substitution G T upstream_gene_variant LIRI-JP 13 50145663 50145663 single base substitution C T intron_variant LIRI-JP 13 50145663 50145663 single base substitution C T upstream_gene_variant LIRI-JP 13 50146512 50146512 single base substitution T C intron_variant LIRI-JP 13 50146626 50146626 single base substitution C T intron_variant LIRI-JP 13 50148944 50148944 single base substitution T C intron_variant LIRI-JP 13 50152784 50152784 single base substitution T C intron_variant LIRI-JP 13 50155341 50155341 single base substitution G A intron_variant LIRI-JP 13 50158429 50158430 deletion of <=200bp CT - intron_variant LIRI-JP 13 50161062 50161062 single base substitution T C upstream_gene_variant LIRI-JP 13 50161494 50161494 single base substitution G A upstream_gene_variant LUSC-KR 13 50102810 50102810 single base substitution G A downstream_gene_variant LUSC-KR 13 50102992 50102992 single base substitution T C downstream_gene_variant LUSC-KR 13 50105285 50105285 single base substitution A T downstream_gene_variant LUSC-KR 13 50106078 50106078 single base substitution T C downstream_gene_variant LUSC-KR 13 50106584 50106584 single base substitution G A 3_prime_UTR_variant LUSC-KR 13 50106584 50106584 single base substitution G A downstream_gene_variant LUSC-KR 13 50106955 50106955 single base substitution A G 3_prime_UTR_variant LUSC-KR 13 50106955 50106955 single base substitution A G downstream_gene_variant LUSC-KR 13 50107231 50107231 single base substitution C A 3_prime_UTR_variant LUSC-KR 13 50107231 50107231 single base substitution C A downstream_gene_variant LUSC-KR 13 50107289 50107289 single base substitution T C 3_prime_UTR_variant LUSC-KR 13 50107289 50107289 single base substitution T C downstream_gene_variant LUSC-KR 13 50107323 50107323 single base substitution C T 3_prime_UTR_variant LUSC-KR 13 50107323 50107323 single base substitution C T downstream_gene_variant LUSC-KR 13 50107375 50107375 single base substitution G C 3_prime_UTR_variant LUSC-KR 13 50107375 50107375 single base substitution G C downstream_gene_variant LUSC-KR 13 50107904 50107904 single base substitution G A 3_prime_UTR_variant LUSC-KR 13 50107904 50107904 single base substitution G A downstream_gene_variant LUSC-KR 13 50107973 50107973 single base substitution G C 3_prime_UTR_variant LUSC-KR 13 50107973 50107973 single base substitution G C downstream_gene_variant LUSC-KR 13 50108252 50108252 single base substitution T C 3_prime_UTR_variant LUSC-KR 13 50108252 50108252 single base substitution T C exon_variant LUSC-KR 13 50113063 50113063 single base substitution C T intron_variant LUSC-KR 13 50120216 50120216 single base substitution A T downstream_gene_variant LUSC-KR 13 50120216 50120216 single base substitution A T intron_variant LUSC-KR 13 50123622 50123622 single base substitution G C downstream_gene_variant LUSC-KR 13 50123622 50123622 single base substitution G C synonymous_variant P339P 1017C>G LUSC-KR 13 50124925 50124925 single base substitution C T downstream_gene_variant LUSC-KR 13 50124925 50124925 single base substitution C T intron_variant LUSC-KR 13 50125515 50125515 single base substitution A T exon_variant LUSC-KR 13 50125515 50125515 single base substitution A T synonymous_variant T267T 801T>A LUSC-KR 13 50130041 50130041 single base substitution G A intron_variant LUSC-KR 13 50130041 50130041 single base substitution G A upstream_gene_variant LUSC-KR 13 50130351 50130351 single base substitution G T intron_variant LUSC-KR 13 50130351 50130351 single base substitution G T upstream_gene_variant LUSC-KR 13 50134020 50134020 single base substitution A G intron_variant LUSC-KR 13 50134358 50134358 single base substitution T C intron_variant LUSC-KR 13 50134538 50134538 single base substitution T G intron_variant LUSC-KR 13 50139743 50139743 single base substitution A G intron_variant LUSC-KR 13 50139940 50139940 single base substitution C T intron_variant LUSC-KR 13 50140277 50140277 single base substitution T A intron_variant LUSC-KR 13 50140575 50140575 single base substitution T C intron_variant LUSC-KR 13 50142874 50142874 single base substitution G C intron_variant LUSC-KR 13 50142874 50142874 single base substitution G C upstream_gene_variant LUSC-KR 13 50147876 50147876 single base substitution G A intron_variant LUSC-KR 13 50148108 50148108 single base substitution A C intron_variant LUSC-KR 13 50148878 50148878 single base substitution T A intron_variant LUSC-KR 13 50152143 50152143 single base substitution T C intron_variant LUSC-KR 13 50154661 50154661 single base substitution C T 5_prime_UTR_variant LUSC-KR 13 50156284 50156284 single base substitution C G intron_variant LUSC-US 13 50102723 50102723 deletion of <=200bp A - downstream_gene_variant LUSC-US 13 50115024 50115024 single base substitution T G missense_variant R481S 1443A>C LUSC-US 13 50115024 50115024 single base substitution T G upstream_gene_variant LUSC-US 13 50115118 50115118 single base substitution T A missense_variant Y450F 1349A>T LUSC-US 13 50115118 50115118 single base substitution T A upstream_gene_variant LUSC-US 13 50123776 50123776 single base substitution T A downstream_gene_variant LUSC-US 13 50123776 50123776 single base substitution T A missense_variant E288V 863A>T LUSC-US 13 50134125 50134125 single base substitution G A missense_variant L125F 373C>T MALY-DE 13 50109214 50109214 single base substitution T C intron_variant MALY-DE 13 50112149 50112149 single base substitution T C exon_variant MALY-DE 13 50112149 50112149 single base substitution T C intron_variant MALY-DE 13 50115574 50115574 single base substitution A T intron_variant MALY-DE 13 50115574 50115574 single base substitution A T upstream_gene_variant MALY-DE 13 50134912 50134912 single base substitution A C intron_variant MALY-DE 13 50139795 50139813 deletion of <=200bp GCCCGGCCGCCCCGTCTGA - intron_variant MALY-DE 13 50141743 50141743 single base substitution T C intron_variant MALY-DE 13 50141743 50141743 single base substitution T C upstream_gene_variant MALY-DE 13 50143759 50143759 single base substitution G A intron_variant MALY-DE 13 50143759 50143759 single base substitution G A upstream_gene_variant MALY-DE 13 50144143 50144143 single base substitution A G intron_variant MALY-DE 13 50144143 50144143 single base substitution A G upstream_gene_variant MELA-AU 13 50101196 50101196 single base substitution A C downstream_gene_variant MELA-AU 13 50102937 50102937 single base substitution G A downstream_gene_variant MELA-AU 13 50103260 50103260 single base substitution G A downstream_gene_variant MELA-AU 13 50103923 50103923 single base substitution G C downstream_gene_variant MELA-AU 13 50104656 50104656 single base substitution G A downstream_gene_variant MELA-AU 13 50104857 50104857 single base substitution C T downstream_gene_variant MELA-AU 13 50105682 50105682 single base substitution G A downstream_gene_variant MELA-AU 13 50106245 50106245 single base substitution G A 3_prime_UTR_variant MELA-AU 13 50106245 50106245 single base substitution G A downstream_gene_variant MELA-AU 13 50107100 50107100 single base substitution A T 3_prime_UTR_variant MELA-AU 13 50107100 50107100 single base substitution A T downstream_gene_variant MELA-AU 13 50108842 50108842 single base substitution G A intron_variant MELA-AU 13 50108961 50108961 single base substitution G A intron_variant MELA-AU 13 50110645 50110645 single base substitution A G intron_variant MELA-AU 13 50110980 50110980 single base substitution G T intron_variant MELA-AU 13 50111485 50111485 single base substitution G A intron_variant MELA-AU 13 50111758 50111758 single base substitution C T intron_variant MELA-AU 13 50112296 50112296 single base substitution G A intron_variant MELA-AU 13 50112699 50112699 single base substitution A G intron_variant MELA-AU 13 50112894 50112894 single base substitution T C intron_variant MELA-AU 13 50113026 50113026 single base substitution T C intron_variant MELA-AU 13 50113140 50113140 single base substitution G A intron_variant MELA-AU 13 50113848 50113848 single base substitution G A intron_variant MELA-AU 13 50113848 50113848 single base substitution G A upstream_gene_variant MELA-AU 13 50114457 50114457 single base substitution C T intron_variant MELA-AU 13 50114457 50114457 single base substitution C T upstream_gene_variant MELA-AU 13 50114829 50114829 single base substitution G A intron_variant MELA-AU 13 50114829 50114829 single base substitution G A upstream_gene_variant MELA-AU 13 50115776 50115776 single base substitution C T downstream_gene_variant MELA-AU 13 50115776 50115776 single base substitution C T intron_variant MELA-AU 13 50115776 50115776 single base substitution C T upstream_gene_variant MELA-AU 13 50117178 50117178 single base substitution C T downstream_gene_variant MELA-AU 13 50117178 50117178 single base substitution C T intron_variant MELA-AU 13 50117178 50117178 single base substitution C T upstream_gene_variant MELA-AU 13 50117560 50117560 single base substitution G A downstream_gene_variant MELA-AU 13 50117560 50117560 single base substitution G A intron_variant MELA-AU 13 50117560 50117560 single base substitution G A upstream_gene_variant MELA-AU 13 50117975 50117975 single base substitution C T downstream_gene_variant MELA-AU 13 50117975 50117975 single base substitution C T intron_variant MELA-AU 13 50117975 50117975 single base substitution C T upstream_gene_variant MELA-AU 13 50118196 50118196 single base substitution T C downstream_gene_variant MELA-AU 13 50118196 50118196 single base substitution T C intron_variant MELA-AU 13 50118196 50118196 single base substitution T C upstream_gene_variant MELA-AU 13 50118631 50118631 single base substitution A C downstream_gene_variant MELA-AU 13 50118631 50118631 single base substitution A C intron_variant MELA-AU 13 50118631 50118631 single base substitution A C upstream_gene_variant MELA-AU 13 50119853 50119853 single base substitution G A downstream_gene_variant MELA-AU 13 50119853 50119853 single base substitution G A intron_variant MELA-AU 13 50120507 50120507 single base substitution G A downstream_gene_variant MELA-AU 13 50120507 50120507 single base substitution G A intron_variant MELA-AU 13 50120767 50120767 single base substitution G A 3_prime_UTR_variant MELA-AU 13 50120767 50120767 single base substitution G A downstream_gene_variant MELA-AU 13 50120767 50120767 single base substitution G A intron_variant MELA-AU 13 50121420 50121420 single base substitution C T downstream_gene_variant MELA-AU 13 50121420 50121420 single base substitution C T intron_variant MELA-AU 13 50122214 50122214 single base substitution C T downstream_gene_variant MELA-AU 13 50122214 50122214 single base substitution C T intron_variant MELA-AU 13 50122216 50122216 single base substitution G A downstream_gene_variant MELA-AU 13 50122216 50122216 single base substitution G A intron_variant MELA-AU 13 50123462 50123462 single base substitution T A downstream_gene_variant MELA-AU 13 50123462 50123462 single base substitution T A intron_variant MELA-AU 13 50123469 50123469 single base substitution G A downstream_gene_variant MELA-AU 13 50123469 50123469 single base substitution G A intron_variant MELA-AU 13 50123883 50123883 single base substitution G A downstream_gene_variant MELA-AU 13 50123883 50123883 single base substitution G A intron_variant MELA-AU 13 50124032 50124032 single base substitution G A downstream_gene_variant MELA-AU 13 50124032 50124032 single base substitution G A intron_variant MELA-AU 13 50124330 50124330 single base substitution G A downstream_gene_variant MELA-AU 13 50124330 50124330 single base substitution G A intron_variant MELA-AU 13 50124502 50124502 single base substitution G A downstream_gene_variant MELA-AU 13 50124502 50124502 single base substitution G A intron_variant MELA-AU 13 50124630 50124630 single base substitution A G downstream_gene_variant MELA-AU 13 50124630 50124630 single base substitution A G intron_variant MELA-AU 13 50124730 50124731 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 13 50124730 50124731 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 13 50125065 50125065 single base substitution C T downstream_gene_variant MELA-AU 13 50125065 50125065 single base substitution C T intron_variant MELA-AU 13 50125664 50125664 single base substitution C T intron_variant MELA-AU 13 50126795 50126795 single base substitution G A intron_variant MELA-AU 13 50126795 50126795 single base substitution G A upstream_gene_variant MELA-AU 13 50127575 50127575 single base substitution G A intron_variant MELA-AU 13 50127575 50127575 single base substitution G A upstream_gene_variant MELA-AU 13 50127885 50127885 single base substitution G A intron_variant MELA-AU 13 50127885 50127885 single base substitution G A upstream_gene_variant MELA-AU 13 50128311 50128311 single base substitution T A intron_variant MELA-AU 13 50128311 50128311 single base substitution T A upstream_gene_variant MELA-AU 13 50128683 50128688 deletion of <=200bp CCGTGC - intron_variant MELA-AU 13 50128683 50128688 deletion of <=200bp CCGTGC - upstream_gene_variant MELA-AU 13 50129266 50129266 single base substitution G A intron_variant MELA-AU 13 50129266 50129266 single base substitution G A upstream_gene_variant MELA-AU 13 50129356 50129356 single base substitution C T intron_variant MELA-AU 13 50129356 50129356 single base substitution C T upstream_gene_variant MELA-AU 13 50129839 50129839 single base substitution G A intron_variant MELA-AU 13 50129839 50129839 single base substitution G A upstream_gene_variant MELA-AU 13 50130281 50130281 single base substitution G A intron_variant MELA-AU 13 50130281 50130281 single base substitution G A upstream_gene_variant MELA-AU 13 50130884 50130884 single base substitution A G intron_variant MELA-AU 13 50130884 50130884 single base substitution A G upstream_gene_variant MELA-AU 13 50131239 50131239 single base substitution G T intron_variant MELA-AU 13 50131239 50131239 single base substitution G T upstream_gene_variant MELA-AU 13 50131766 50131766 single base substitution G A intron_variant MELA-AU 13 50131830 50131830 single base substitution A G intron_variant MELA-AU 13 50131981 50131981 single base substitution G A intron_variant MELA-AU 13 50133198 50133198 single base substitution G A intron_variant MELA-AU 13 50133700 50133700 single base substitution G A intron_variant MELA-AU 13 50135112 50135113 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 50135418 50135418 single base substitution G A intron_variant MELA-AU 13 50135470 50135471 deletion of <=200bp AG - intron_variant MELA-AU 13 50135546 50135546 single base substitution G A intron_variant MELA-AU 13 50135805 50135806 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 13 50136310 50136310 single base substitution T C intron_variant MELA-AU 13 50136464 50136464 single base substitution A G intron_variant MELA-AU 13 50139066 50139066 single base substitution G A intron_variant MELA-AU 13 50139962 50139962 single base substitution G A intron_variant MELA-AU 13 50141216 50141216 single base substitution C T intron_variant MELA-AU 13 50141602 50141602 single base substitution A C intron_variant MELA-AU 13 50141602 50141602 single base substitution A C upstream_gene_variant MELA-AU 13 50142331 50142331 single base substitution G A intron_variant MELA-AU 13 50142331 50142331 single base substitution G A upstream_gene_variant MELA-AU 13 50142647 50142647 single base substitution T C intron_variant MELA-AU 13 50142647 50142647 single base substitution T C upstream_gene_variant MELA-AU 13 50143191 50143191 single base substitution G A intron_variant MELA-AU 13 50143191 50143191 single base substitution G A upstream_gene_variant MELA-AU 13 50144206 50144206 single base substitution G A intron_variant MELA-AU 13 50144206 50144206 single base substitution G A upstream_gene_variant MELA-AU 13 50145070 50145070 single base substitution G A intron_variant MELA-AU 13 50145070 50145070 single base substitution G A upstream_gene_variant MELA-AU 13 50145206 50145206 single base substitution G A intron_variant MELA-AU 13 50145206 50145206 single base substitution G A upstream_gene_variant MELA-AU 13 50145252 50145252 single base substitution G A intron_variant MELA-AU 13 50145252 50145252 single base substitution G A upstream_gene_variant MELA-AU 13 50145302 50145302 single base substitution G A intron_variant MELA-AU 13 50145302 50145302 single base substitution G A upstream_gene_variant MELA-AU 13 50145945 50145945 single base substitution G A intron_variant MELA-AU 13 50145945 50145945 single base substitution G A upstream_gene_variant MELA-AU 13 50147091 50147091 single base substitution C T intron_variant MELA-AU 13 50147648 50147648 single base substitution G A intron_variant MELA-AU 13 50147775 50147775 single base substitution G A intron_variant MELA-AU 13 50147855 50147855 single base substitution G A intron_variant MELA-AU 13 50150250 50150250 single base substitution G A intron_variant MELA-AU 13 50150500 50150500 single base substitution T C intron_variant MELA-AU 13 50151414 50151414 single base substitution G A intron_variant MELA-AU 13 50151642 50151642 single base substitution T C intron_variant MELA-AU 13 50151746 50151746 single base substitution G A intron_variant MELA-AU 13 50152244 50152244 single base substitution G A intron_variant MELA-AU 13 50153489 50153489 single base substitution G A intron_variant MELA-AU 13 50153763 50153763 single base substitution A G intron_variant MELA-AU 13 50154324 50154324 single base substitution G A intron_variant MELA-AU 13 50154338 50154338 insertion of <=200bp - T intron_variant MELA-AU 13 50154776 50154776 single base substitution G A intron_variant MELA-AU 13 50154942 50154942 single base substitution G A intron_variant MELA-AU 13 50155394 50155394 single base substitution G A intron_variant MELA-AU 13 50155798 50155798 single base substitution G T intron_variant MELA-AU 13 50155821 50155821 single base substitution G A intron_variant MELA-AU 13 50158674 50158674 single base substitution C T intron_variant MELA-AU 13 50158823 50158824 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 50158833 50158833 single base substitution G A intron_variant MELA-AU 13 50159221 50159221 single base substitution G A intron_variant MELA-AU 13 50162483 50162483 single base substitution C T upstream_gene_variant MELA-AU 13 50162654 50162654 single base substitution C T upstream_gene_variant MELA-AU 13 50162672 50162672 single base substitution C T upstream_gene_variant MELA-AU 13 50163006 50163006 single base substitution G A upstream_gene_variant MELA-AU 13 50163213 50163213 single base substitution C T upstream_gene_variant MELA-AU 13 50163324 50163324 single base substitution C T upstream_gene_variant MELA-AU 13 50163834 50163834 single base substitution G A upstream_gene_variant MELA-AU 13 50163835 50163835 single base substitution G A upstream_gene_variant MELA-AU 13 50163953 50163953 single base substitution G A upstream_gene_variant MELA-AU 13 50163977 50163977 single base substitution G A upstream_gene_variant MELA-AU 13 50163983 50163983 single base substitution G A upstream_gene_variant MELA-AU 13 50164077 50164077 single base substitution G A upstream_gene_variant MELA-AU 13 50164267 50164267 single base substitution C T upstream_gene_variant ORCA-IN 13 50112896 50112896 single base substitution C T intron_variant ORCA-IN 13 50118922 50118922 single base substitution G A downstream_gene_variant ORCA-IN 13 50118922 50118922 single base substitution G A stop_gained R375* 1123C>T ORCA-IN 13 50123756 50123756 single base substitution C A downstream_gene_variant ORCA-IN 13 50123756 50123756 single base substitution C A missense_variant A295S 883G>T ORCA-IN 13 50126094 50126094 deletion of <=200bp A - intron_variant ORCA-IN 13 50135725 50135725 single base substitution T C intron_variant OV-AU 13 50105008 50105008 single base substitution G A downstream_gene_variant OV-AU 13 50105510 50105510 single base substitution G A downstream_gene_variant OV-AU 13 50152150 50152150 single base substitution T C intron_variant OV-AU 13 50154206 50154206 single base substitution C A intron_variant OV-AU 13 50154207 50154207 single base substitution A G intron_variant OV-AU 13 50156448 50156448 single base substitution C A intron_variant OV-AU 13 50161133 50161133 single base substitution G T upstream_gene_variant OV-AU 13 50161134 50161134 single base substitution A C upstream_gene_variant OV-AU 13 50163803 50163803 single base substitution C A upstream_gene_variant PACA-AU 13 50102764 50102764 single base substitution T C downstream_gene_variant PACA-AU 13 50103827 50103827 single base substitution T A downstream_gene_variant PACA-AU 13 50108868 50108868 single base substitution C A intron_variant PACA-AU 13 50109606 50109606 single base substitution G A intron_variant PACA-AU 13 50111803 50111803 single base substitution T A intron_variant PACA-AU 13 50113027 50113027 single base substitution T C intron_variant PACA-AU 13 50130579 50130579 single base substitution G A intron_variant PACA-AU 13 50130579 50130579 single base substitution G A upstream_gene_variant PACA-AU 13 50136879 50136879 single base substitution G C intron_variant PACA-AU 13 50137796 50137796 single base substitution A T intron_variant PACA-AU 13 50137846 50137846 single base substitution G A intron_variant PACA-AU 13 50142625 50142625 single base substitution G T intron_variant PACA-AU 13 50142625 50142625 single base substitution G T upstream_gene_variant PACA-AU 13 50144751 50144751 single base substitution G A intron_variant PACA-AU 13 50144751 50144751 single base substitution G A upstream_gene_variant PACA-AU 13 50149196 50149196 deletion of <=200bp G - intron_variant PACA-AU 13 50149359 50149359 single base substitution A G intron_variant PACA-AU 13 50154396 50154396 deletion of <=200bp A - intron_variant PACA-AU 13 50164103 50164103 single base substitution C T upstream_gene_variant PACA-CA 13 50104948 50104948 single base substitution A G downstream_gene_variant PACA-CA 13 50108670 50108670 single base substitution G T intron_variant PACA-CA 13 50110064 50110064 single base substitution C T intron_variant PACA-CA 13 50112894 50112894 single base substitution T C intron_variant PACA-CA 13 50112898 50112898 single base substitution C A intron_variant PACA-CA 13 50112908 50112908 single base substitution C T intron_variant PACA-CA 13 50114446 50114446 single base substitution C T intron_variant PACA-CA 13 50114446 50114446 single base substitution C T upstream_gene_variant PACA-CA 13 50117188 50117188 single base substitution C T downstream_gene_variant PACA-CA 13 50117188 50117188 single base substitution C T intron_variant PACA-CA 13 50117188 50117188 single base substitution C T upstream_gene_variant PACA-CA 13 50120007 50120007 single base substitution G C downstream_gene_variant PACA-CA 13 50120007 50120007 single base substitution G C intron_variant PACA-CA 13 50120911 50120911 single base substitution G A 3_prime_UTR_variant PACA-CA 13 50120911 50120911 single base substitution G A downstream_gene_variant PACA-CA 13 50120911 50120911 single base substitution G A intron_variant PACA-CA 13 50121933 50121933 deletion of <=200bp T - downstream_gene_variant PACA-CA 13 50121933 50121933 deletion of <=200bp T - intron_variant PACA-CA 13 50122768 50122768 single base substitution G A downstream_gene_variant PACA-CA 13 50122768 50122768 single base substitution G A intron_variant PACA-CA 13 50124162 50124162 single base substitution G A downstream_gene_variant PACA-CA 13 50124162 50124162 single base substitution G A intron_variant PACA-CA 13 50126394 50126394 single base substitution C T missense_variant G211S 631G>A PACA-CA 13 50126394 50126394 single base substitution C T upstream_gene_variant PACA-CA 13 50128616 50128616 single base substitution A C intron_variant PACA-CA 13 50128616 50128616 single base substitution A C upstream_gene_variant PACA-CA 13 50139057 50139057 single base substitution C A intron_variant PACA-CA 13 50140123 50140123 single base substitution G A intron_variant PACA-CA 13 50140824 50140824 single base substitution T G missense_variant E69D 207A>C PACA-CA 13 50148648 50148648 single base substitution A G intron_variant PACA-CA 13 50157701 50157701 single base substitution G T intron_variant PACA-CA 13 50157703 50157703 single base substitution G A intron_variant PACA-CA 13 50158307 50158307 single base substitution C T intron_variant PACA-CA 13 50159939 50159939 single base substitution G A upstream_gene_variant PAEN-AU 13 50127780 50127780 single base substitution G C intron_variant PAEN-AU 13 50127780 50127780 single base substitution G C upstream_gene_variant PAEN-AU 13 50137845 50137845 single base substitution C T intron_variant PAEN-AU 13 50148701 50148701 single base substitution T C intron_variant PAEN-AU 13 50160033 50160033 single base substitution A C upstream_gene_variant PAEN-IT 13 50107431 50107431 single base substitution G T 3_prime_UTR_variant PAEN-IT 13 50107431 50107431 single base substitution G T downstream_gene_variant PAEN-IT 13 50116479 50116479 single base substitution T C downstream_gene_variant PAEN-IT 13 50116479 50116479 single base substitution T C intron_variant PAEN-IT 13 50116479 50116479 single base substitution T C upstream_gene_variant PAEN-IT 13 50145869 50145869 single base substitution C T intron_variant PAEN-IT 13 50145869 50145869 single base substitution C T upstream_gene_variant PAEN-IT 13 50157806 50157806 single base substitution C A intron_variant PBCA-DE 13 50106911 50106911 single base substitution C G 3_prime_UTR_variant PBCA-DE 13 50106911 50106911 single base substitution C G downstream_gene_variant PBCA-DE 13 50109887 50109887 single base substitution G A intron_variant PBCA-DE 13 50139946 50139946 deletion of <=200bp C - intron_variant PBCA-DE 13 50142709 50142709 single base substitution G A intron_variant PBCA-DE 13 50142709 50142709 single base substitution G A upstream_gene_variant PBCA-DE 13 50143556 50143556 insertion of <=200bp - A intron_variant PBCA-DE 13 50143556 50143556 insertion of <=200bp - A upstream_gene_variant PBCA-DE 13 50160844 50160844 single base substitution T C upstream_gene_variant PBCA-DE 13 50163776 50163776 single base substitution C A upstream_gene_variant PRAD-CA 13 50101217 50101217 single base substitution C A downstream_gene_variant PRAD-CA 13 50114394 50114394 single base substitution G A intron_variant PRAD-CA 13 50114394 50114394 single base substitution G A upstream_gene_variant PRAD-CA 13 50125954 50125954 single base substitution T A intron_variant PRAD-CA 13 50142757 50142757 single base substitution G T intron_variant PRAD-CA 13 50142757 50142757 single base substitution G T upstream_gene_variant PRAD-CA 13 50147766 50147766 single base substitution A G intron_variant PRAD-UK 13 50108142 50108142 single base substitution A G 3_prime_UTR_variant PRAD-UK 13 50108142 50108142 single base substitution A G exon_variant PRAD-UK 13 50112723 50112723 single base substitution C A intron_variant PRAD-UK 13 50117404 50117404 single base substitution A C downstream_gene_variant PRAD-UK 13 50117404 50117404 single base substitution A C intron_variant PRAD-UK 13 50117404 50117404 single base substitution A C upstream_gene_variant PRAD-UK 13 50149701 50149701 single base substitution C T intron_variant PRAD-UK 13 50157581 50157581 single base substitution T C intron_variant PRAD-UK 13 50158237 50158237 single base substitution A C intron_variant PRAD-US 13 50123715 50123715 single base substitution G A downstream_gene_variant PRAD-US 13 50123715 50123715 single base substitution G A synonymous_variant Y308Y 924C>T READ-US 13 50115950 50115950 single base substitution G A downstream_gene_variant READ-US 13 50115950 50115950 single base substitution G A stop_gained R396* 1186C>T READ-US 13 50115950 50115950 single base substitution G A upstream_gene_variant RECA-EU 13 50103608 50103608 single base substitution G A downstream_gene_variant RECA-EU 13 50127023 50127023 single base substitution G T intron_variant RECA-EU 13 50127023 50127023 single base substitution G T upstream_gene_variant RECA-EU 13 50155761 50155761 single base substitution C G intron_variant RECA-EU 13 50156727 50156727 single base substitution A G intron_variant RECA-EU 13 50163706 50163706 single base substitution A T upstream_gene_variant SKCA-BR 13 50101203 50101203 single base substitution C A downstream_gene_variant SKCA-BR 13 50101924 50101924 single base substitution T G downstream_gene_variant SKCA-BR 13 50102424 50102424 single base substitution G A downstream_gene_variant SKCA-BR 13 50102810 50102810 single base substitution G A downstream_gene_variant SKCA-BR 13 50102992 50102992 single base substitution T C downstream_gene_variant SKCA-BR 13 50103484 50103484 single base substitution G A downstream_gene_variant SKCA-BR 13 50104019 50104019 single base substitution G A downstream_gene_variant SKCA-BR 13 50107206 50107221 deletion of <=200bp AAAAGTGAAAGATGAT - 3_prime_UTR_variant SKCA-BR 13 50107206 50107221 deletion of <=200bp AAAAGTGAAAGATGAT - downstream_gene_variant SKCA-BR 13 50111053 50111053 single base substitution C G intron_variant SKCA-BR 13 50111484 50111484 single base substitution G A intron_variant SKCA-BR 13 50112539 50112539 single base substitution A C intron_variant SKCA-BR 13 50112894 50112894 insertion of <=200bp - TAC intron_variant SKCA-BR 13 50116349 50116350 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 13 50116349 50116350 deletion of <=200bp CA - intron_variant SKCA-BR 13 50116349 50116350 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 13 50116580 50116580 single base substitution G A downstream_gene_variant SKCA-BR 13 50116580 50116580 single base substitution G A intron_variant SKCA-BR 13 50116580 50116580 single base substitution G A upstream_gene_variant SKCA-BR 13 50117413 50117413 single base substitution A T downstream_gene_variant SKCA-BR 13 50117413 50117413 single base substitution A T intron_variant SKCA-BR 13 50117413 50117413 single base substitution A T upstream_gene_variant SKCA-BR 13 50122547 50122547 single base substitution G A downstream_gene_variant SKCA-BR 13 50122547 50122547 single base substitution G A intron_variant SKCA-BR 13 50122745 50122745 single base substitution G A downstream_gene_variant SKCA-BR 13 50122745 50122745 single base substitution G A intron_variant SKCA-BR 13 50123193 50123193 single base substitution G A downstream_gene_variant SKCA-BR 13 50123193 50123193 single base substitution G A intron_variant SKCA-BR 13 50127719 50127719 single base substitution T C intron_variant SKCA-BR 13 50127719 50127719 single base substitution T C upstream_gene_variant SKCA-BR 13 50127864 50127864 single base substitution G A intron_variant SKCA-BR 13 50127864 50127864 single base substitution G A upstream_gene_variant SKCA-BR 13 50136797 50136797 single base substitution G A intron_variant SKCA-BR 13 50136909 50136909 insertion of <=200bp - CA intron_variant SKCA-BR 13 50137469 50137473 deletion of <=200bp CAGAG - intron_variant SKCA-BR 13 50139627 50139627 single base substitution A T intron_variant SKCA-BR 13 50140260 50140260 single base substitution A G intron_variant SKCA-BR 13 50140400 50140406 deletion of <=200bp ATAAAAT - intron_variant SKCA-BR 13 50140412 50140423 deletion of <=200bp AAATAAATAAAT - intron_variant SKCA-BR 13 50141897 50141897 single base substitution T C intron_variant SKCA-BR 13 50141897 50141897 single base substitution T C upstream_gene_variant SKCA-BR 13 50141898 50141898 single base substitution G C intron_variant SKCA-BR 13 50141898 50141898 single base substitution G C upstream_gene_variant SKCA-BR 13 50147923 50147923 insertion of <=200bp - CT intron_variant SKCA-BR 13 50148836 50148836 single base substitution C A intron_variant SKCA-BR 13 50149014 50149014 single base substitution C T intron_variant SKCA-BR 13 50149552 50149552 single base substitution G A intron_variant SKCA-BR 13 50150003 50150003 insertion of <=200bp - CATATG intron_variant SKCA-BR 13 50155804 50155804 single base substitution G A intron_variant SKCA-BR 13 50157214 50157214 single base substitution G A intron_variant SKCA-BR 13 50161415 50161415 single base substitution G T upstream_gene_variant SKCA-BR 13 50161512 50161512 single base substitution C T upstream_gene_variant SKCA-BR 13 50163673 50163673 single base substitution G A upstream_gene_variant SKCM-US 13 50115837 50115837 single base substitution G A downstream_gene_variant SKCM-US 13 50115837 50115837 single base substitution G A synonymous_variant V433V 1299C>T SKCM-US 13 50115837 50115837 single base substitution G A upstream_gene_variant SKCM-US 13 50123648 50123648 single base substitution C T downstream_gene_variant SKCM-US 13 50123648 50123648 single base substitution C T missense_variant D331N 991G>A SKCM-US 13 50123659 50123659 single base substitution G A downstream_gene_variant SKCM-US 13 50123659 50123659 single base substitution G A missense_variant S327F 980C>T SKCM-US 13 50134104 50134104 deletion of <=200bp C - frameshift_variant E132 SKCM-US 13 50140769 50140769 single base substitution G A missense_variant L88F 262C>T SKCM-US 13 50140794 50140794 single base substitution G A synonymous_variant L79L 237C>T STAD-US 13 50115828 50115828 single base substitution C T downstream_gene_variant STAD-US 13 50115828 50115828 single base substitution C T synonymous_variant P436P 1308G>A STAD-US 13 50115828 50115828 single base substitution C T upstream_gene_variant STAD-US 13 50115896 50115896 single base substitution C T downstream_gene_variant STAD-US 13 50115896 50115896 single base substitution C T missense_variant D414N 1240G>A STAD-US 13 50115896 50115896 single base substitution C T upstream_gene_variant STAD-US 13 50123608 50123608 single base substitution C T downstream_gene_variant STAD-US 13 50123608 50123608 single base substitution C T missense_variant R344H 1031G>A STAD-US 13 50125518 50125518 single base substitution T C exon_variant STAD-US 13 50125518 50125518 single base substitution T C synonymous_variant G266G 798A>G STAD-US 13 50140787 50140787 single base substitution C T missense_variant G82R 244G>A STAD-US 13 50140831 50140831 deletion of <=200bp T - frameshift_variant K67 STAD-US 13 50141342 50141342 single base substitution C T missense_variant C25Y 74G>A THCA-SA 13 50107670 50107670 single base substitution C T 3_prime_UTR_variant THCA-SA 13 50107670 50107670 single base substitution C T downstream_gene_variant THCA-SA 13 50123625 50123625 single base substitution A G downstream_gene_variant THCA-SA 13 50123625 50123625 single base substitution A G synonymous_variant T338T 1014T>C THCA-SA 13 50123649 50123649 single base substitution G A downstream_gene_variant THCA-SA 13 50123649 50123649 single base substitution G A synonymous_variant D330D 990C>T THCA-SA 13 50123688 50123688 single base substitution G T downstream_gene_variant THCA-SA 13 50123688 50123688 single base substitution G T synonymous_variant S317S 951C>A THCA-SA 13 50134099 50134099 single base substitution T C synonymous_variant V133V 399A>G THCA-SA 13 50134150 50134150 single base substitution A G synonymous_variant I116I 348T>C THCA-SA 13 50141362 50141362 single base substitution G A synonymous_variant I18I 54C>T UCEC-US 13 50102647 50102647 single base substitution C T downstream_gene_variant UCEC-US 13 50115126 50115126 single base substitution C T synonymous_variant A447A 1341G>A UCEC-US 13 50115126 50115126 single base substitution C T upstream_gene_variant UCEC-US 13 50115896 50115896 single base substitution C T downstream_gene_variant UCEC-US 13 50115896 50115896 single base substitution C T missense_variant D414N 1240G>A UCEC-US 13 50115896 50115896 single base substitution C T upstream_gene_variant UCEC-US 13 50115933 50115933 single base substitution C T downstream_gene_variant UCEC-US 13 50115933 50115933 single base substitution C T synonymous_variant S401S 1203G>A UCEC-US 13 50115933 50115933 single base substitution C T upstream_gene_variant UCEC-US 13 50115948 50115948 single base substitution T C downstream_gene_variant UCEC-US 13 50115948 50115948 single base substitution T C synonymous_variant R396R 1188A>G UCEC-US 13 50115948 50115948 single base substitution T C upstream_gene_variant UCEC-US 13 50115950 50115950 single base substitution G A downstream_gene_variant UCEC-US 13 50115950 50115950 single base substitution G A stop_gained R396* 1186C>T UCEC-US 13 50115950 50115950 single base substitution G A upstream_gene_variant UCEC-US 13 50118873 50118873 single base substitution C T downstream_gene_variant UCEC-US 13 50118873 50118873 single base substitution C T missense_variant R391K 1172G>A UCEC-US 13 50118958 50118958 single base substitution C A downstream_gene_variant UCEC-US 13 50118958 50118958 single base substitution C A stop_gained E363* 1087G>T UCEC-US 13 50123608 50123608 single base substitution C T downstream_gene_variant UCEC-US 13 50123608 50123608 single base substitution C T missense_variant R344H 1031G>A UCEC-US 13 50125487 50125487 single base substitution C T exon_variant UCEC-US 13 50125487 50125487 single base substitution C T missense_variant A277T 829G>A UCEC-US 13 50129671 50129671 single base substitution C A missense_variant A195S 583G>T UCEC-US 13 50129671 50129671 single base substitution C A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LS411 COSM1942685 c.1448_1450delATG p.D483delD Deletion - In frame 13:49540881-49540883 - QC2-39-T2 COSM5655723 c.502C>T p.Q168* Substitution - Nonsense 13:49555616-49555616 - TCGA-FW-A3R5-06 COSM3885404 c.1299C>T p.V433V Substitution - coding silent 13:49541701-49541701 - TCGA-18-5595-01 COSM696449 c.373C>T p.L125F Substitution - Missense 13:49559989-49559989 - TCGA-AX-A05Z-01 COSM947887 c.1341G>A p.A447A Substitution - coding silent 13:49540990-49540990 - STC232 COSM5052193 c.1021G>A p.V341I Substitution - Missense 13:49549482-49549482 - STC291 COSM3999109 c.54C>T p.I18I Substitution - coding silent 13:49567226-49567226 - TCGA-06-6388-01 COSM3399408 c.215G>A p.C72Y Substitution - Missense 13:49566680-49566680 - CHC2127T COSM4952852 c.608A>G p.Y203C Substitution - Missense 13:49552281-49552281 - CSCC-20-T COSM4494301 c.42C>T p.S14S Substitution - coding silent 13:49567238-49567238 - TCGA-BS-A0UV-01 COSM947891 c.1186C>T p.R396* Substitution - Nonsense 13:49541814-49541814 - TCGA-DD-A1EG-01 COSM4915797 c.1120T>C p.F374L Substitution - Missense 13:49544789-49544789 - ESCC_143 COSM5644042 c.188T>C p.L63P Substitution - Missense 13:49566707-49566707 - SNUH_G45_S1 COSM1942696 c.951C>T p.S317S Substitution - coding silent 13:49549552-49549552 - I2L-P7-Tumor-Organoid COSM5362274 c.711+2T>C p.? Unknown 13:49552176-49552176 - CSCC-27-T COSM4513969 c.957C>T p.I319I Substitution - coding silent 13:49549546-49549546 - ZZUFHECRKL-G045T COSM5437869 c.339C>T p.N113N Substitution - coding silent 13:49560023-49560023 - TCGA-A2-A0T5-01 COSM3813962 c.857T>G p.V286G Substitution - Missense 13:49549646-49549646 - TCGA-EE-A2GO-06 COSM1942694 c.991G>A p.D331N Substitution - Missense 13:49549512-49549512 - 1N36-VS-1T36 COSM1942695 c.963G>A p.P321P Substitution - coding silent 13:49549540-49549540 - TCGA-C4-A0F7-01 COSM416346 c.515G>A p.R172Q Substitution - Missense 13:49555603-49555603 - OSCC-GB_00340111 COSM3711094 c.1123C>T p.R375* Substitution - Nonsense 13:49544786-49544786 - TCGA-D8-A27G-01 COSM3813963 c.497C>G p.A166G Substitution - Missense 13:49555621-49555621 - CSCC-11-T COSM4568966 c.1426T>A p.F476I Substitution - Missense 13:49540905-49540905 - Pat_65_A COSM1367378 c.82G>A p.G28S Substitution - Missense 13:49567198-49567198 - RK308_C01 COSM3744185 c.278-7T>C p.? Unknown 13:49560091-49560091 - PCSI_0083_Pa_P_526 COSM3786186 c.631G>A p.G211S Substitution - Missense 13:49552258-49552258 - S02299 COSM5690185 c.983G>T p.C328F Substitution - Missense 13:49549520-49549520 - TCGA-D1-A17Q-01 COSM947890 c.1188A>G p.R396R Substitution - coding silent 13:49541812-49541812 - SNUH_G45_S1 COSM3999107 c.399A>G p.V133V Substitution - coding silent 13:49559963-49559963 - TCGA-AP-A051-01 COSM947889 c.1203G>A p.S401S Substitution - coding silent 13:49541797-49541797 - HT115 COSM1942688 c.1425A>G p.L475L Substitution - coding silent 13:49540906-49540906 - YUROC COSM5376809 c.455G>A p.W152* Substitution - Nonsense 13:49555663-49555663 - TCGA-66-2759-01 COSM696452 c.1443A>C p.R481S Substitution - Missense 13:49540888-49540888 - TCGA-IA-A40Y-01 COSM3987427 c.375C>G p.L125L Substitution - coding silent 13:49559987-49559987 - HCC157T COSM3704678 c.461A>G p.Y154C Substitution - Missense 13:49555657-49555657 - OSCC-GB_00570111 COSM4890077 c.883G>T p.A295S Substitution - Missense 13:49549620-49549620 - TCGA-P5-A5EZ-01 COSM4420598 c.421A>G p.M141V Substitution - Missense 13:49559941-49559941 - SNUH_G45_S1 COSM3999108 c.348T>C p.I116I Substitution - coding silent 13:49560014-49560014 - PT46 COSM1686198 c.1264C>T p.R422C Substitution - Missense 13:49541736-49541736 - TCGA-21-1076-01 COSM696451 c.1349A>T p.Y450F Substitution - Missense 13:49540982-49540982 - YUTOGS COSM1686198 c.1264C>T p.R422C Substitution - Missense 13:49541736-49541736 - T7 COSM5021800 c.990C>T p.D330D Substitution - coding silent 13:49549513-49549513 - YURUS COSM1686198 c.1264C>T p.R422C Substitution - Missense 13:49541736-49541736 - 34T COSM3711094 c.1123C>T p.R375* Substitution - Nonsense 13:49544786-49544786 - Gp5D COSM1942692 c.1038G>A p.L346L Substitution - coding silent 13:49549465-49549465 - T3658 COSM4720872 c.1560T>C p.I520I Substitution - coding silent 13:49534158-49534158 - TCGA-BH-A0AW-01 COSM432470 c.89C>T p.S30L Substitution - Missense 13:49567191-49567191 - TCGA-D1-A17Q-01 COSM947893 c.1087G>T p.E363* Substitution - Nonsense 13:49544822-49544822 - HCC157 COSM3704678 c.461A>G p.Y154C Substitution - Missense 13:49555657-49555657 - CRC-03T COSM5451312 c.4G>T p.V2L Substitution - Missense 13:49567276-49567276 - T2269 COSM4720873 c.206A>C p.E69A Substitution - Missense 13:49566689-49566689 - RDES COSM4575962 c.1284C>A p.L428L Substitution - coding silent 13:49541716-49541716 - TCGA-EW-A1J5-01 COSM1477270 c.1465G>C p.E489Q Substitution - Missense 13:49534253-49534253 - TCGA-EI-6917-01 COSM947891 c.1186C>T p.R396* Substitution - Nonsense 13:49541814-49541814 - ccRCC-14 COSM1663875 c.1543C>G p.L515V Substitution - Missense 13:49534175-49534175 - HT115 COSM1942684 c.1540C>T p.P514S Substitution - Missense 13:49534178-49534178 - TCGA-AM-5821-01 COSM1942696 c.951C>T p.S317S Substitution - coding silent 13:49549552-49549552 - SNU-175 COSM1942708 c.64C>T p.R22W Substitution - Missense 13:49567216-49567216 - I2L-P5-Tumor-Organoid COSM947887 c.1341G>A p.A447A Substitution - coding silent 13:49540990-49540990 - OCC06PT COSM88650 c.1475T>G p.F492C Substitution - Missense 13:49534243-49534243 - TCGA-AP-A056-01 COSM947888 c.1240G>A p.D414N Substitution - Missense 13:49541760-49541760 - QC2-36-T2 COSM5655312 c.87C>T p.T29T Substitution - coding silent 13:49567193-49567193 - TCGA-D1-A167-01 COSM947895 c.829G>A p.A277T Substitution - Missense 13:49551351-49551351 - CN-AML-CR-18-Dx COSM3753717 c.1017C>G p.P339P Substitution - coding silent 13:49549486-49549486 - TCGA-BS-A0UF-01 COSM947892 c.1172G>A p.R391K Substitution - Missense 13:49544737-49544737 - TCGA-BR-8680-01 COSM947894 c.1031G>A p.R344H Substitution - Missense 13:49549472-49549472 - PCSI_0058_Pa_X COSM3376566 c.207A>C p.E69D Substitution - Missense 13:49566688-49566688 - TCGA-EJ-5519-01 COSM1128366 c.924C>T p.Y308Y Substitution - coding silent 13:49549579-49549579 - ESO-114 COSM1263955 c.969C>T p.L323L Substitution - coding silent 13:49549534-49549534 - Gp5D COSM1942707 c.284T>A p.V95E Substitution - Missense 13:49560078-49560078 - LOVO COSM1942698 c.940C>T p.R314W Substitution - Missense 13:49549563-49549563 - TCGA-37-5819-01 COSM696450 c.863A>T p.E288V Substitution - Missense 13:49549640-49549640 - TCGA-BR-7851-01 COSM4047974 c.1308G>A p.P436P Substitution - coding silent 13:49541692-49541692 - TCGA-GF-A6C9-06 COSM4903358 c.980C>T p.S327F Substitution - Missense 13:49549523-49549523 - ATL049 COSM5704735 c.602A>G p.E201G Substitution - Missense 13:49555516-49555516 - SJOS004_D COSM5023922 c.622A>C p.N208H Substitution - Missense 13:49552267-49552267 - CHC794T COSM4949510 c.523delA p.T175fs*9 Deletion - Frameshift 13:49555595-49555595 - SNUH_G26_S1 COSM1942697 c.951C>G p.S317S Substitution - coding silent 13:49549552-49549552 - TCGA-AZ-4615-01 COSM3753717 c.1017C>G p.P339P Substitution - coding silent 13:49549486-49549486 - Sample_1 COSM5021800 c.990C>T p.D330D Substitution - coding silent 13:49549513-49549513 - T4 COSM3999108 c.348T>C p.I116I Substitution - coding silent 13:49560014-49560014 - 2881_T COSM3955650 c.1176T>G p.C392W Substitution - Missense 13:49541824-49541824 - C086 COSM5538082 c.950C>T p.S317F Substitution - Missense 13:49549553-49549553 - PTC-7C COSM3753717 c.1017C>G p.P339P Substitution - coding silent 13:49549486-49549486 - Ad3 COSM947888 c.1240G>A p.D414N Substitution - Missense 13:49541760-49541760 - CHC794T COSM4949510 c.523delA p.T175fs*9 Deletion - Frameshift 13:49555595-49555595 - CRC-17T COSM5021800 c.990C>T p.D330D Substitution - coding silent 13:49549513-49549513 - TCGA-BR-8380-01 COSM4047976 c.244G>A p.G82R Substitution - Missense 13:49566651-49566651 - TCGA-61-2000-01 COSM116866 c.1211A>C p.N404T Substitution - Missense 13:49541789-49541789 - TCGA-D1-A15Z-01 COSM947896 c.612C>A p.G204G Substitution - coding silent 13:49552277-49552277 - TCGA-B5-A11E-01 COSM947897 c.583G>T p.A195S Substitution - Missense 13:49555535-49555535 - TCGA-BR-4292-01 COSM4047975 c.798A>G p.G266G Substitution - coding silent 13:49551382-49551382 - CHC2127T COSM4952852 c.608A>G p.Y203C Substitution - Missense 13:49552281-49552281 - TCGA-BF-A1PV-01 COSM3469198 c.262C>T p.L88F Substitution - Missense 13:49566633-49566633 - A673 COSM4575963 c.1191C>T p.S397S Substitution - coding silent 13:49541809-49541809 - TCGA-BS-A0UV-01 COSM947888 c.1240G>A p.D414N Substitution - Missense 13:49541760-49541760 - TCGA-B5-A11E-01 COSM947894 c.1031G>A p.R344H Substitution - Missense 13:49549472-49549472 - TCGA-GN-A266-06 COSM3469199 c.237C>T p.L79L Substitution - coding silent 13:49566658-49566658 - TCGA-BR-7958-01 COSM4047977 c.74G>A p.C25Y Substitution - Missense 13:49567206-49567206 - MO_1337 COSM5568117 c.1026G>A p.S342S Substitution - coding silent 13:49549477-49549477 - T55 COSM3704678 c.461A>G p.Y154C Substitution - Missense 13:49555657-49555657 - TCGA-C8-A131-01 COSM432469 c.323G>T p.G108V Substitution - Missense 13:49560039-49560039 - SNUH_G45_S1 COSM3999109 c.54C>T p.I18I Substitution - coding silent 13:49567226-49567226 - AD68 COSM5966695 c.1492C>T p.H498Y Substitution - Missense 13:49534226-49534226 - pfg129T COSM4754934 c.1030C>T p.R344C Substitution - Missense 13:49549473-49549473 - CHC326T COSM4806026 c.61A>G p.I21V Substitution - Missense 13:49567219-49567219 - CHC326T COSM4806026 c.61A>G p.I21V Substitution - Missense 13:49567219-49567219 - XHDG27 COSM4769231 c.634C>G p.Q212E Substitution - Missense 13:49552255-49552255 - EGC15 COSM5052192 c.1265G>A p.R422H Substitution - Missense 13:49541735-49541735 - TCGA-CD-A4MG-01 COSM947888 c.1240G>A p.D414N Substitution - Missense 13:49541760-49541760 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.508021 13q14 607867

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.G108V c.323G>T 13 50134175 BRCA C A Missense p.Q190H c.570G>T 13 50129684 LUAD C A Synonymous p.L372L c.1116G>T 13 50118929 LUAD C G Missense p.W310C c.930G>C 13 50123709 LUAD C T Missense p.C72Y c.215G>A 13 50140816 GBM C T Missense p.D331N c.991G>A 13 50123648 CM C T Missense p.E251K c.751G>A 13 50125565 HNSC C T Missense p.R172Q c.515G>A 13 50129739 BLCA G A Missense p.L125F c.373C>T 13 50134125 LUSC G A Missense p.L88F c.262C>T 13 50140769 CM G A Missense p.P8L c.23C>T 13 50141393 CM G A Missense p.S30L c.89C>T 13 50141327 BRCA G A Missense p.S342L c.1025C>T 13 50123614 CM G A Synonymous p.L323L c.969C>T 13 50123670 ESCA G A Synonymous p.Y308Y c.924C>T 13 50123715 PRAD G T Synonymous p.T123T c.369C>A 13 50134129 CM T A Missense p.E288V c.863A>T 13 50123776 LUSC T A Missense p.Y450F c.1349A>T 13 50115118 LUSC T C IntronicSNV . c.1455+1113A>G 13 50113899 CLL T C IntronicSNV . c.1455+2863A>G 13 50112149 DLBCL T C SpliceAcceptorSNV . c.855-2A>G 13 50123786 HNSC T C Synonymous p.G266G c.798A>G 13 50125518 STAD T G Missense p.N404T c.1211A>C 13 50115925 OV T G Missense p.R481S c.1443A>C 13 50115024 LUSC