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 9 37842126 37842126 + Missense_Mutation SNP A A T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr9:37842126A>T c.694A>T c.(694-696)Act>Tct p.T232S BLCA 9 37842171 37842171 + Missense_Mutation SNP T T C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 g.chr9:37842171T>C c.739T>C c.(739-741)Tgc>Cgc p.C247R BLCA 9 37854962 37854962 + Missense_Mutation SNP G G T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr9:37854962G>T c.1037G>T c.(1036-1038)aGa>aTa p.R346I BLCA 9 37861326 37861326 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr9:37861326G>A c.1501G>A c.(1501-1503)Gac>Aac p.D501N BRCA 9 37854783 37854784 + Frame_Shift_Ins INS - - T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 g.chr9:37854783_37854784insT c.858_859insT c.(859-861)gaafs p.E287fs BRCA 9 37854784 37854785 + Frame_Shift_Ins INS - - GT TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 g.chr9:37854784_37854785insGT c.859_860insGT c.(859-861)gaafs p.E287fs BRCA 9 37854785 37854786 + Frame_Shift_Ins INS - - T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 g.chr9:37854785_37854786insT c.860_861insT c.(859-864)gaagatfs p.ED287fs BRCA 9 37854793 37854793 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr9:37854793T>G c.868T>G c.(868-870)Tgt>Ggt p.C290G BRCA 9 37861271 37861271 + Silent SNP C C G TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 g.chr9:37861271C>G c.1446C>G c.(1444-1446)ccC>ccG p.P482P COAD 9 37842161 37842161 + Silent SNP C C T TCGA-AA-3858-01A-01W-0900-09 TCGA-AA-3858-10A-01W-0900-09 g.chr9:37842161C>T c.729C>T c.(727-729)aaC>aaT p.N243N COAD 9 37860107 37860107 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr9:37860107G>A c.1228G>A c.(1228-1230)Gga>Aga p.G410R COADREAD 9 37842161 37842161 + Silent SNP C C T TCGA-AA-3858-01A-01W-0900-09 TCGA-AA-3858-10A-01W-0900-09 g.chr9:37842161C>T c.729C>T c.(727-729)aaC>aaT p.N243N COADREAD 9 37860057 37860057 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr9:37860057G>A c.1178G>A c.(1177-1179)cGa>cAa p.R393Q COADREAD 9 37860107 37860107 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr9:37860107G>A c.1228G>A c.(1228-1230)Gga>Aga p.G410R DLBC 9 37861380 37861380 + Missense_Mutation SNP C C T TCGA-G8-6907-01A-11D-2210-10 TCGA-G8-6907-14A-01D-2210-10 g.chr9:37861380C>T c.1555C>T c.(1555-1557)Cgg>Tgg p.R519W ESCA 9 37842093 37842093 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 g.chr9:37842093G>T c.661G>T c.(661-663)Gat>Tat p.D221Y GBMLGG 9 37854804 37854804 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:37854804G>T c.879G>T c.(877-879)aaG>aaT p.K293N GBMLGG 9 37857348 37857348 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:37857348G>T c.1165G>T c.(1165-1167)Gga>Tga p.G389* HNSC 9 37842132 37842132 + Missense_Mutation SNP A A G TCGA-CV-A6JN-01A-11D-A31L-08 TCGA-CV-A6JN-10A-01D-A31J-08 g.chr9:37842132A>G c.700A>G c.(700-702)Ata>Gta p.I234V HNSC 9 37854962 37854962 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 g.chr9:37854962G>A c.1037G>A c.(1036-1038)aGa>aAa p.R346K HNSC 9 37860055 37860055 + Silent SNP A A G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 g.chr9:37860055A>G c.1176A>G c.(1174-1176)ccA>ccG p.P392P KICH 9 37861212 37861212 + Missense_Mutation SNP C C G TCGA-KO-8408-01A-11D-2310-10 TCGA-KO-8408-11A-01D-2311-10 g.chr9:37861212C>G c.1387C>G c.(1387-1389)Cat>Gat p.H463D KIPAN 9 37800965 37800965 + Silent SNP G G T TCGA-P4-A5ED-01A-11D-A28G-10 TCGA-P4-A5ED-11A-11D-A28G-10 g.chr9:37800965G>T c.102G>T c.(100-102)ccG>ccT p.P34P KIPAN 9 37861212 37861212 + Missense_Mutation SNP C C G TCGA-KO-8408-01A-11D-2310-10 TCGA-KO-8408-11A-01D-2311-10 g.chr9:37861212C>G c.1387C>G c.(1387-1389)Cat>Gat p.H463D KIRP 9 37800965 37800965 + Silent SNP G G T TCGA-P4-A5ED-01A-11D-A28G-10 TCGA-P4-A5ED-11A-11D-A28G-10 g.chr9:37800965G>T c.102G>T c.(100-102)ccG>ccT p.P34P LGG 9 37854804 37854804 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:37854804G>T c.879G>T c.(877-879)aaG>aaT p.K293N LGG 9 37857348 37857348 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:37857348G>T c.1165G>T c.(1165-1167)Gga>Tga p.G389* LIHC 9 37860046 37860046 + Splice_Site SNP A A G TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr9:37860046A>G c.1167A>G c.(1165-1167)ggA>ggG p.G389G LIHC 9 37861138 37861138 + Splice_Site SNP G G T TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr9:37861138G>T c.1313G>T c.(1312-1314)tGt>tTt p.C438F LUAD 9 37857288 37857288 + Missense_Mutation SNP T T A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 g.chr9:37857288T>A c.1105T>A c.(1105-1107)Tgt>Agt p.C369S LUSC 9 37801401 37801401 + Splice_Site SNP G G T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 g.chr9:37801401G>T c.538G>T c.(538-540)Ggg>Tgg p.G180W LUSC 9 37861493 37861493 + Silent SNP G G A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr9:37861493G>A c.1668G>A c.(1666-1668)caG>caA p.Q556Q PRAD 9 37801316 37801316 + Silent SNP C C G TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 g.chr9:37801316C>G c.453C>G c.(451-453)ctC>ctG p.L151L PRAD 9 37842147 37842147 + Missense_Mutation SNP C C A TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 g.chr9:37842147C>A c.715C>A c.(715-717)Ctg>Atg p.L239M READ 9 37860057 37860057 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr9:37860057G>A c.1178G>A c.(1177-1179)cGa>cAa p.R393Q SARC 9 37860098 37860098 + Missense_Mutation SNP A A T TCGA-DX-A6YX-01A-11D-A417-09 TCGA-DX-A6YX-10B-01D-A41A-09 g.chr9:37860098A>T c.1219A>T c.(1219-1221)Agt>Tgt p.S407C

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 9 37842126 37842126 single base substitution A T intron_variant BLCA-US 9 37842126 37842126 single base substitution A T missense_variant T232S 694A>T BLCA-US 9 37842171 37842171 single base substitution T C intron_variant BLCA-US 9 37842171 37842171 single base substitution T C missense_variant C247R 739T>C BLCA-US 9 37861326 37861326 single base substitution G A downstream_gene_variant BLCA-US 9 37861326 37861326 single base substitution G A exon_variant BLCA-US 9 37861326 37861326 single base substitution G A missense_variant D464N 1390G>A BLCA-US 9 37861326 37861326 single base substitution G A missense_variant D501N 1501G>A BRCA-EU 9 37796715 37796715 single base substitution C A upstream_gene_variant BRCA-EU 9 37797179 37797179 single base substitution T C upstream_gene_variant BRCA-EU 9 37797359 37797359 insertion of <=200bp - A upstream_gene_variant BRCA-EU 9 37799297 37799297 single base substitution A T upstream_gene_variant BRCA-EU 9 37799662 37799662 single base substitution G A upstream_gene_variant BRCA-EU 9 37799787 37799787 single base substitution G A upstream_gene_variant BRCA-EU 9 37799911 37799911 single base substitution C A upstream_gene_variant BRCA-EU 9 37801373 37801373 single base substitution C A synonymous_variant A170A 510C>A BRCA-EU 9 37801471 37801471 single base substitution T A intron_variant BRCA-EU 9 37802489 37802489 single base substitution A G intron_variant BRCA-EU 9 37804340 37804340 single base substitution G C intron_variant BRCA-EU 9 37805111 37805111 single base substitution T C intron_variant BRCA-EU 9 37808419 37808419 single base substitution G C intron_variant BRCA-EU 9 37810021 37810021 single base substitution C G intron_variant BRCA-EU 9 37810619 37810619 single base substitution C T intron_variant BRCA-EU 9 37811343 37811343 single base substitution T A intron_variant BRCA-EU 9 37813202 37813202 single base substitution A G intron_variant BRCA-EU 9 37814557 37814557 single base substitution G A intron_variant BRCA-EU 9 37814557 37814557 single base substitution G A upstream_gene_variant BRCA-EU 9 37818660 37818665 multiple base substitution (>=2bp and <=200bp) CAGATA CGGT intron_variant BRCA-EU 9 37818660 37818665 multiple base substitution (>=2bp and <=200bp) CAGATA CGGT upstream_gene_variant BRCA-EU 9 37818663 37818663 single base substitution A G intron_variant BRCA-EU 9 37818663 37818663 single base substitution A G upstream_gene_variant BRCA-EU 9 37818809 37818809 single base substitution C T intron_variant BRCA-EU 9 37818809 37818809 single base substitution C T upstream_gene_variant BRCA-EU 9 37819466 37819466 single base substitution G A intron_variant BRCA-EU 9 37819622 37819622 single base substitution A G intron_variant BRCA-EU 9 37820595 37820595 single base substitution C A intron_variant BRCA-EU 9 37820799 37820799 single base substitution A G intron_variant BRCA-EU 9 37821601 37821601 single base substitution C T intron_variant BRCA-EU 9 37821685 37821685 single base substitution C G intron_variant BRCA-EU 9 37822488 37822488 single base substitution A T intron_variant BRCA-EU 9 37822840 37822840 single base substitution C G intron_variant BRCA-EU 9 37822914 37822914 single base substitution A G intron_variant BRCA-EU 9 37825749 37825749 single base substitution C A intron_variant BRCA-EU 9 37827475 37827475 deletion of <=200bp A - intron_variant BRCA-EU 9 37828190 37828190 single base substitution C G intron_variant BRCA-EU 9 37829700 37829700 deletion of <=200bp T - intron_variant BRCA-EU 9 37831411 37831411 single base substitution A T intron_variant BRCA-EU 9 37831425 37831425 single base substitution C G intron_variant BRCA-EU 9 37831561 37831561 deletion of <=200bp T - intron_variant BRCA-EU 9 37833330 37833330 single base substitution C T intron_variant BRCA-EU 9 37833928 37833928 single base substitution C T intron_variant BRCA-EU 9 37833934 37833934 single base substitution C T intron_variant BRCA-EU 9 37834658 37834658 single base substitution G C intron_variant BRCA-EU 9 37835531 37835531 single base substitution C T intron_variant BRCA-EU 9 37836920 37836920 single base substitution G C intron_variant BRCA-EU 9 37838420 37838420 deletion of <=200bp A - intron_variant BRCA-EU 9 37838765 37838765 single base substitution G A intron_variant BRCA-EU 9 37839684 37839684 single base substitution G C intron_variant BRCA-EU 9 37840259 37840259 deletion of <=200bp A - intron_variant BRCA-EU 9 37841949 37841949 single base substitution C T intron_variant BRCA-EU 9 37843138 37843138 single base substitution C A intron_variant BRCA-EU 9 37844556 37844556 single base substitution G T intron_variant BRCA-EU 9 37845722 37845722 single base substitution C G intron_variant BRCA-EU 9 37846324 37846324 single base substitution C T intron_variant BRCA-EU 9 37846889 37846889 single base substitution A T intron_variant BRCA-EU 9 37847314 37847314 single base substitution G C intron_variant BRCA-EU 9 37847609 37847609 single base substitution C T intron_variant BRCA-EU 9 37847615 37847615 deletion of <=200bp T - intron_variant BRCA-EU 9 37849576 37849576 single base substitution C A intron_variant BRCA-EU 9 37849782 37849782 single base substitution A C intron_variant BRCA-EU 9 37851676 37851676 single base substitution C T intron_variant BRCA-EU 9 37851676 37851676 single base substitution C T upstream_gene_variant BRCA-EU 9 37853682 37853682 single base substitution C T intron_variant BRCA-EU 9 37853682 37853682 single base substitution C T upstream_gene_variant BRCA-EU 9 37854178 37854178 single base substitution C T intron_variant BRCA-EU 9 37854178 37854178 single base substitution C T upstream_gene_variant BRCA-EU 9 37855185 37855185 single base substitution G T intron_variant BRCA-EU 9 37855185 37855185 single base substitution G T upstream_gene_variant BRCA-EU 9 37855206 37855206 single base substitution G A intron_variant BRCA-EU 9 37855206 37855206 single base substitution G A upstream_gene_variant BRCA-EU 9 37859254 37859254 single base substitution C G intron_variant BRCA-EU 9 37860444 37860444 single base substitution C T downstream_gene_variant BRCA-EU 9 37860444 37860444 single base substitution C T intron_variant BRCA-EU 9 37861320 37861320 single base substitution G C downstream_gene_variant BRCA-EU 9 37861320 37861320 single base substitution G C exon_variant BRCA-EU 9 37861320 37861320 single base substitution G C missense_variant G462R 1384G>C BRCA-EU 9 37861320 37861320 single base substitution G C missense_variant G499R 1495G>C BRCA-EU 9 37861587 37861587 single base substitution G C 3_prime_UTR_variant BRCA-EU 9 37861587 37861587 single base substitution G C downstream_gene_variant BRCA-EU 9 37861587 37861587 single base substitution G C exon_variant BRCA-EU 9 37862394 37862394 single base substitution C A 3_prime_UTR_variant BRCA-EU 9 37862394 37862394 single base substitution C A downstream_gene_variant BRCA-EU 9 37862394 37862394 single base substitution C A exon_variant BRCA-EU 9 37863575 37863575 single base substitution C T 3_prime_UTR_variant BRCA-EU 9 37863575 37863575 single base substitution C T downstream_gene_variant BRCA-EU 9 37865498 37865498 single base substitution C T 3_prime_UTR_variant BRCA-EU 9 37865498 37865498 single base substitution C T downstream_gene_variant BRCA-EU 9 37866000 37866000 single base substitution T C 3_prime_UTR_variant BRCA-EU 9 37866000 37866000 single base substitution T C downstream_gene_variant BRCA-EU 9 37867742 37867742 single base substitution G A downstream_gene_variant BRCA-EU 9 37868729 37868729 single base substitution G C downstream_gene_variant BRCA-EU 9 37871324 37871324 single base substitution C A downstream_gene_variant BRCA-EU 9 37872438 37872438 deletion of <=200bp A - downstream_gene_variant BRCA-FR 9 37796715 37796715 single base substitution C A upstream_gene_variant BRCA-FR 9 37799662 37799662 single base substitution G A upstream_gene_variant BRCA-FR 9 37805111 37805111 single base substitution T C intron_variant BRCA-FR 9 37813202 37813202 single base substitution A G intron_variant BRCA-FR 9 37819466 37819466 single base substitution G A intron_variant BRCA-FR 9 37821601 37821601 single base substitution C T intron_variant BRCA-FR 9 37834658 37834658 single base substitution G C intron_variant BRCA-FR 9 37855185 37855185 single base substitution G T intron_variant BRCA-FR 9 37855185 37855185 single base substitution G T upstream_gene_variant BRCA-FR 9 37855206 37855206 single base substitution G A intron_variant BRCA-FR 9 37855206 37855206 single base substitution G A upstream_gene_variant BRCA-FR 9 37865498 37865498 single base substitution C T 3_prime_UTR_variant BRCA-FR 9 37865498 37865498 single base substitution C T downstream_gene_variant BRCA-UK 9 37835531 37835531 single base substitution C T intron_variant BRCA-UK 9 37846523 37846523 single base substitution G C intron_variant BRCA-UK 9 37871324 37871324 single base substitution C A downstream_gene_variant BRCA-US 9 37854783 37854783 insertion of <=200bp - T exon_variant BRCA-US 9 37854783 37854783 insertion of <=200bp - T frameshift_variant T286T? BRCA-US 9 37854783 37854783 insertion of <=200bp - T upstream_gene_variant BRCA-US 9 37854784 37854784 insertion of <=200bp - GT exon_variant BRCA-US 9 37854784 37854784 insertion of <=200bp - GT frameshift_variant E287V? BRCA-US 9 37854784 37854784 insertion of <=200bp - GT upstream_gene_variant BRCA-US 9 37854785 37854785 insertion of <=200bp - T exon_variant BRCA-US 9 37854785 37854785 insertion of <=200bp - T frameshift_variant E287V? BRCA-US 9 37854785 37854785 insertion of <=200bp - T upstream_gene_variant BRCA-US 9 37854793 37854793 single base substitution T G exon_variant BRCA-US 9 37854793 37854793 single base substitution T G missense_variant C290G 868T>G BRCA-US 9 37854793 37854793 single base substitution T G upstream_gene_variant BRCA-US 9 37860210 37860210 single base substitution A C exon_variant BRCA-US 9 37860210 37860210 single base substitution A C intron_variant BRCA-US 9 37861271 37861271 single base substitution C G downstream_gene_variant BRCA-US 9 37861271 37861271 single base substitution C G exon_variant BRCA-US 9 37861271 37861271 single base substitution C G synonymous_variant P445P 1335C>G BRCA-US 9 37861271 37861271 single base substitution C G synonymous_variant P482P 1446C>G BRCA-US 9 37862230 37862230 single base substitution C G 3_prime_UTR_variant BRCA-US 9 37862230 37862230 single base substitution C G downstream_gene_variant BRCA-US 9 37862230 37862230 single base substitution C G exon_variant BTCA-JP 9 37861138 37861138 single base substitution G A downstream_gene_variant BTCA-JP 9 37861138 37861138 single base substitution G A missense_variant C401Y 1202G>A BTCA-JP 9 37861138 37861138 single base substitution G A missense_variant C438Y 1313G>A BTCA-JP 9 37861138 37861138 single base substitution G A splice_region_variant CESC-US 9 37860308 37860308 single base substitution G C exon_variant CESC-US 9 37860308 37860308 single base substitution G C intron_variant CESC-US 9 37863321 37863321 single base substitution T A 3_prime_UTR_variant CESC-US 9 37863321 37863321 single base substitution T A downstream_gene_variant CESC-US 9 37863321 37863321 single base substitution T A exon_variant CLLE-ES 9 37812287 37812287 single base substitution C T intron_variant CLLE-ES 9 37837667 37837667 single base substitution G T intron_variant CLLE-ES 9 37857543 37857543 single base substitution T A intron_variant CLLE-ES 9 37857543 37857543 single base substitution T A upstream_gene_variant CLLE-ES 9 37859421 37859421 single base substitution G C intron_variant COAD-US 9 37860107 37860107 single base substitution G A exon_variant COAD-US 9 37860107 37860107 single base substitution G A missense_variant G373R 1117G>A COAD-US 9 37860107 37860107 single base substitution G A missense_variant G410R 1228G>A COCA-CN 9 37800442 37800442 single base substitution A T upstream_gene_variant COCA-CN 9 37800445 37800445 single base substitution G T upstream_gene_variant COCA-CN 9 37801204 37801204 single base substitution C T missense_variant A114V 341C>T COCA-CN 9 37842250 37842250 single base substitution T G intron_variant COCA-CN 9 37842250 37842250 single base substitution T G missense_variant F273C 818T>G COCA-CN 9 37857160 37857160 single base substitution C T intron_variant COCA-CN 9 37857160 37857160 single base substitution C T upstream_gene_variant COCA-CN 9 37868338 37868338 single base substitution T A downstream_gene_variant COCA-CN 9 37868347 37868347 single base substitution T A downstream_gene_variant ESAD-UK 9 37796071 37796071 single base substitution A C upstream_gene_variant ESAD-UK 9 37802311 37802311 single base substitution T G intron_variant ESAD-UK 9 37803023 37803023 single base substitution G C intron_variant ESAD-UK 9 37806257 37806257 single base substitution T A intron_variant ESAD-UK 9 37807188 37807188 deletion of <=200bp T - intron_variant ESAD-UK 9 37809875 37809875 single base substitution C T intron_variant ESAD-UK 9 37811081 37811081 single base substitution C A intron_variant ESAD-UK 9 37812266 37812266 single base substitution A T intron_variant ESAD-UK 9 37814360 37814360 single base substitution T A intron_variant ESAD-UK 9 37814360 37814360 single base substitution T A upstream_gene_variant ESAD-UK 9 37816654 37816654 insertion of <=200bp - GGGG intron_variant ESAD-UK 9 37816654 37816654 insertion of <=200bp - GGGG upstream_gene_variant ESAD-UK 9 37816654 37816654 insertion of <=200bp - G intron_variant ESAD-UK 9 37816654 37816654 insertion of <=200bp - G upstream_gene_variant ESAD-UK 9 37819103 37819103 single base substitution G C intron_variant ESAD-UK 9 37819103 37819103 single base substitution G C upstream_gene_variant ESAD-UK 9 37819430 37819430 single base substitution C G intron_variant ESAD-UK 9 37822806 37822806 deletion of <=200bp A - intron_variant ESAD-UK 9 37823594 37823594 single base substitution G T intron_variant ESAD-UK 9 37823712 37823712 single base substitution G T intron_variant ESAD-UK 9 37824026 37824026 single base substitution T C intron_variant ESAD-UK 9 37825391 37825391 single base substitution A T intron_variant ESAD-UK 9 37828507 37828507 single base substitution A G intron_variant ESAD-UK 9 37829601 37829601 single base substitution G A intron_variant ESAD-UK 9 37831815 37831815 single base substitution C T intron_variant ESAD-UK 9 37833501 37833501 single base substitution C G intron_variant ESAD-UK 9 37836246 37836246 single base substitution A G intron_variant ESAD-UK 9 37838733 37838733 single base substitution C T intron_variant ESAD-UK 9 37839010 37839010 single base substitution C T intron_variant ESAD-UK 9 37840253 37840253 single base substitution C G intron_variant ESAD-UK 9 37840614 37840614 single base substitution A G intron_variant ESAD-UK 9 37841795 37841795 single base substitution C T intron_variant ESAD-UK 9 37843784 37843784 single base substitution C G intron_variant ESAD-UK 9 37843955 37843955 insertion of <=200bp - A intron_variant ESAD-UK 9 37845919 37845919 single base substitution C T intron_variant ESAD-UK 9 37846620 37846620 single base substitution A C intron_variant ESAD-UK 9 37851113 37851113 single base substitution C T intron_variant ESAD-UK 9 37851113 37851113 single base substitution C T upstream_gene_variant ESAD-UK 9 37851783 37851783 single base substitution T G intron_variant ESAD-UK 9 37851783 37851783 single base substitution T G upstream_gene_variant ESAD-UK 9 37853685 37853685 single base substitution C T intron_variant ESAD-UK 9 37853685 37853685 single base substitution C T upstream_gene_variant ESAD-UK 9 37858678 37858678 single base substitution A G intron_variant ESAD-UK 9 37860490 37860497 deletion of <=200bp AAACAAAC - downstream_gene_variant ESAD-UK 9 37860490 37860497 deletion of <=200bp AAACAAAC - intron_variant ESAD-UK 9 37860831 37860831 single base substitution A C downstream_gene_variant ESAD-UK 9 37860831 37860831 single base substitution A C intron_variant ESAD-UK 9 37863048 37863048 single base substitution G A 3_prime_UTR_variant ESAD-UK 9 37863048 37863048 single base substitution G A downstream_gene_variant ESAD-UK 9 37863048 37863048 single base substitution G A exon_variant ESAD-UK 9 37864007 37864007 single base substitution G T 3_prime_UTR_variant ESAD-UK 9 37864007 37864007 single base substitution G T downstream_gene_variant ESAD-UK 9 37865106 37865106 single base substitution G A 3_prime_UTR_variant ESAD-UK 9 37865106 37865106 single base substitution G A downstream_gene_variant ESAD-UK 9 37865945 37865945 single base substitution G C 3_prime_UTR_variant ESAD-UK 9 37865945 37865945 single base substitution G C downstream_gene_variant ESAD-UK 9 37867258 37867258 single base substitution T A 3_prime_UTR_variant ESAD-UK 9 37867258 37867258 single base substitution T A downstream_gene_variant ESAD-UK 9 37868270 37868270 single base substitution C T downstream_gene_variant ESCA-CN 9 37860099 37860099 single base substitution G C exon_variant ESCA-CN 9 37860099 37860099 single base substitution G C missense_variant S370T 1109G>C ESCA-CN 9 37860099 37860099 single base substitution G C missense_variant S407T 1220G>C LICA-FR 9 37800643 37800650 deletion of <=200bp AGGTAACT - 5_prime_UTR_variant LICA-FR 9 37800643 37800650 deletion of <=200bp AGGTAACT - upstream_gene_variant LICA-FR 9 37801178 37801178 single base substitution G T missense_variant K105N 315G>T LICA-FR 9 37805840 37805840 single base substitution G A intron_variant LICA-FR 9 37806845 37806845 single base substitution A C intron_variant LICA-FR 9 37826818 37826819 deletion of <=200bp TT - intron_variant LICA-FR 9 37832183 37832183 single base substitution G A intron_variant LICA-FR 9 37864590 37864590 single base substitution A T 3_prime_UTR_variant LICA-FR 9 37864590 37864590 single base substitution A T downstream_gene_variant LICA-FR 9 37864598 37864598 single base substitution T A 3_prime_UTR_variant LICA-FR 9 37864598 37864598 single base substitution T A downstream_gene_variant LIHC-US 9 37861138 37861138 single base substitution G T downstream_gene_variant LIHC-US 9 37861138 37861138 single base substitution G T missense_variant C401F 1202G>T LIHC-US 9 37861138 37861138 single base substitution G T missense_variant C438F 1313G>T LIHC-US 9 37861138 37861138 single base substitution G T splice_region_variant LINC-JP 9 37811738 37811738 single base substitution A T intron_variant LINC-JP 9 37812480 37812480 single base substitution A T intron_variant LINC-JP 9 37814003 37814003 single base substitution A G intron_variant LINC-JP 9 37828102 37828102 single base substitution C G intron_variant LINC-JP 9 37842137 37842137 single base substitution A G intron_variant LINC-JP 9 37842137 37842137 single base substitution A G synonymous_variant A235A 705A>G LINC-JP 9 37850281 37850281 single base substitution T C intron_variant LINC-JP 9 37850281 37850281 single base substitution T C upstream_gene_variant LINC-JP 9 37851874 37851874 single base substitution A T intron_variant LINC-JP 9 37851874 37851874 single base substitution A T upstream_gene_variant LINC-JP 9 37861697 37861697 single base substitution C A 3_prime_UTR_variant LINC-JP 9 37861697 37861697 single base substitution C A downstream_gene_variant LINC-JP 9 37861697 37861697 single base substitution C A exon_variant LINC-JP 9 37862320 37862320 single base substitution A T 3_prime_UTR_variant LINC-JP 9 37862320 37862320 single base substitution A T downstream_gene_variant LINC-JP 9 37862320 37862320 single base substitution A T exon_variant LINC-JP 9 37867862 37867862 single base substitution T G downstream_gene_variant LINC-JP 9 37871450 37871450 single base substitution C G downstream_gene_variant LIRI-JP 9 37795840 37795840 single base substitution C A upstream_gene_variant LIRI-JP 9 37796655 37796655 single base substitution C T upstream_gene_variant LIRI-JP 9 37802230 37802230 single base substitution A G intron_variant LIRI-JP 9 37802516 37802516 single base substitution G A intron_variant LIRI-JP 9 37803689 37803716 deletion of <=200bp TAAAGTAATTTTACAGATAGATGACATA - intron_variant LIRI-JP 9 37803784 37803784 single base substitution G C intron_variant LIRI-JP 9 37806611 37806611 single base substitution A G intron_variant LIRI-JP 9 37810275 37810275 single base substitution A C intron_variant LIRI-JP 9 37813662 37813662 single base substitution T G intron_variant LIRI-JP 9 37814778 37814778 single base substitution A C intron_variant LIRI-JP 9 37814778 37814778 single base substitution A C upstream_gene_variant LIRI-JP 9 37814989 37814989 single base substitution A C intron_variant LIRI-JP 9 37814989 37814989 single base substitution A C upstream_gene_variant LIRI-JP 9 37814998 37814998 single base substitution A C intron_variant LIRI-JP 9 37814998 37814998 single base substitution A C upstream_gene_variant LIRI-JP 9 37815054 37815054 single base substitution A T intron_variant LIRI-JP 9 37815054 37815054 single base substitution A T upstream_gene_variant LIRI-JP 9 37815745 37815745 single base substitution A T intron_variant LIRI-JP 9 37815745 37815745 single base substitution A T upstream_gene_variant LIRI-JP 9 37818519 37818519 single base substitution A G intron_variant LIRI-JP 9 37818519 37818519 single base substitution A G upstream_gene_variant LIRI-JP 9 37819087 37819087 single base substitution C T intron_variant LIRI-JP 9 37819087 37819087 single base substitution C T upstream_gene_variant LIRI-JP 9 37821138 37821138 single base substitution A G intron_variant LIRI-JP 9 37821278 37821278 single base substitution A C intron_variant LIRI-JP 9 37821724 37821724 single base substitution C A intron_variant LIRI-JP 9 37826660 37826660 single base substitution A T intron_variant LIRI-JP 9 37829150 37829150 single base substitution A G intron_variant LIRI-JP 9 37829249 37829249 single base substitution C T intron_variant LIRI-JP 9 37829426 37829426 single base substitution A G intron_variant LIRI-JP 9 37830925 37830925 single base substitution A C intron_variant LIRI-JP 9 37831982 37831982 deletion of <=200bp T - intron_variant LIRI-JP 9 37835825 37835825 deletion of <=200bp A - intron_variant LIRI-JP 9 37836855 37836855 single base substitution T A intron_variant LIRI-JP 9 37841062 37841062 single base substitution T G intron_variant LIRI-JP 9 37843043 37843043 single base substitution C A intron_variant LIRI-JP 9 37846299 37846299 single base substitution A C intron_variant LIRI-JP 9 37846303 37846303 single base substitution A G intron_variant LIRI-JP 9 37846826 37846826 single base substitution A C intron_variant LIRI-JP 9 37850137 37850137 single base substitution T C intron_variant LIRI-JP 9 37850137 37850137 single base substitution T C upstream_gene_variant LIRI-JP 9 37850157 37850157 single base substitution T G intron_variant LIRI-JP 9 37850157 37850157 single base substitution T G upstream_gene_variant LIRI-JP 9 37850300 37850300 single base substitution C T intron_variant LIRI-JP 9 37850300 37850300 single base substitution C T upstream_gene_variant LIRI-JP 9 37850408 37850408 single base substitution A T intron_variant LIRI-JP 9 37850408 37850408 single base substitution A T upstream_gene_variant LIRI-JP 9 37851811 37851811 single base substitution T A intron_variant LIRI-JP 9 37851811 37851811 single base substitution T A upstream_gene_variant LIRI-JP 9 37852465 37852465 single base substitution C T intron_variant LIRI-JP 9 37852465 37852465 single base substitution C T upstream_gene_variant LIRI-JP 9 37855150 37855150 single base substitution T C intron_variant LIRI-JP 9 37855150 37855150 single base substitution T C upstream_gene_variant LIRI-JP 9 37855546 37855546 single base substitution A G intron_variant LIRI-JP 9 37855546 37855546 single base substitution A G upstream_gene_variant LIRI-JP 9 37856587 37856587 single base substitution C G intron_variant LIRI-JP 9 37856587 37856587 single base substitution C G upstream_gene_variant LIRI-JP 9 37858724 37858724 single base substitution T C intron_variant LIRI-JP 9 37858737 37858737 deletion of <=200bp A - intron_variant LIRI-JP 9 37861575 37861575 single base substitution A T 3_prime_UTR_variant LIRI-JP 9 37861575 37861575 single base substitution A T downstream_gene_variant LIRI-JP 9 37861575 37861575 single base substitution A T exon_variant LIRI-JP 9 37863420 37863420 single base substitution A G 3_prime_UTR_variant LIRI-JP 9 37863420 37863420 single base substitution A G downstream_gene_variant LIRI-JP 9 37863830 37863830 insertion of <=200bp - T 3_prime_UTR_variant LIRI-JP 9 37863830 37863830 insertion of <=200bp - T downstream_gene_variant LIRI-JP 9 37871919 37871919 single base substitution T C downstream_gene_variant LUSC-KR 9 37798000 37798000 single base substitution A T upstream_gene_variant LUSC-KR 9 37823465 37823465 single base substitution C A intron_variant LUSC-KR 9 37823896 37823896 single base substitution G T intron_variant LUSC-KR 9 37826461 37826461 single base substitution C G intron_variant LUSC-KR 9 37835785 37835785 single base substitution G A intron_variant LUSC-KR 9 37837473 37837473 single base substitution G A intron_variant LUSC-KR 9 37844549 37844549 single base substitution G A intron_variant LUSC-KR 9 37845377 37845377 single base substitution A G intron_variant LUSC-KR 9 37859004 37859004 single base substitution C T intron_variant LUSC-KR 9 37861397 37861397 single base substitution G T downstream_gene_variant LUSC-KR 9 37861397 37861397 single base substitution G T exon_variant LUSC-KR 9 37861397 37861397 single base substitution G T synonymous_variant L487L 1461G>T LUSC-KR 9 37861397 37861397 single base substitution G T synonymous_variant L524L 1572G>T LUSC-KR 9 37864598 37864598 single base substitution T A 3_prime_UTR_variant LUSC-KR 9 37864598 37864598 single base substitution T A downstream_gene_variant LUSC-US 9 37801401 37801401 single base substitution G T missense_variant G180W 538G>T LUSC-US 9 37861493 37861493 single base substitution G A downstream_gene_variant LUSC-US 9 37861493 37861493 single base substitution G A exon_variant LUSC-US 9 37861493 37861493 single base substitution G A synonymous_variant Q519Q 1557G>A LUSC-US 9 37861493 37861493 single base substitution G A synonymous_variant Q556Q 1668G>A MALY-DE 9 37796379 37796379 single base substitution A C upstream_gene_variant MALY-DE 9 37803282 37803282 single base substitution C G intron_variant MALY-DE 9 37806513 37806513 single base substitution C T intron_variant MALY-DE 9 37808768 37808768 insertion of <=200bp - A intron_variant MALY-DE 9 37825626 37825626 single base substitution C T intron_variant MALY-DE 9 37827052 37827052 single base substitution A T intron_variant MALY-DE 9 37827832 37827832 single base substitution A C intron_variant MALY-DE 9 37831007 37831007 single base substitution G T intron_variant MALY-DE 9 37837060 37837060 single base substitution T G intron_variant MALY-DE 9 37858914 37858914 single base substitution C T intron_variant MALY-DE 9 37869222 37869222 single base substitution A T downstream_gene_variant MALY-DE 9 37869647 37869647 single base substitution G T downstream_gene_variant MELA-AU 9 37795954 37795954 single base substitution G A upstream_gene_variant MELA-AU 9 37797329 37797329 single base substitution G A upstream_gene_variant MELA-AU 9 37797870 37797870 single base substitution G A upstream_gene_variant MELA-AU 9 37797991 37797991 single base substitution G A upstream_gene_variant MELA-AU 9 37798530 37798530 single base substitution G A upstream_gene_variant MELA-AU 9 37798928 37798928 single base substitution G A upstream_gene_variant MELA-AU 9 37799340 37799340 single base substitution G A upstream_gene_variant MELA-AU 9 37799910 37799911 deletion of <=200bp TC - upstream_gene_variant MELA-AU 9 37800175 37800175 single base substitution G A upstream_gene_variant MELA-AU 9 37801156 37801157 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P98L 293CC>TT MELA-AU 9 37802537 37802537 single base substitution G A intron_variant MELA-AU 9 37803728 37803728 single base substitution T C intron_variant MELA-AU 9 37804239 37804239 single base substitution C T intron_variant MELA-AU 9 37805199 37805200 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 37806143 37806143 single base substitution G A intron_variant MELA-AU 9 37807380 37807380 single base substitution T C intron_variant MELA-AU 9 37807561 37807561 single base substitution C T intron_variant MELA-AU 9 37808330 37808330 single base substitution C T intron_variant MELA-AU 9 37809869 37809869 single base substitution C T intron_variant MELA-AU 9 37810001 37810001 single base substitution T C intron_variant MELA-AU 9 37811253 37811253 single base substitution C T intron_variant MELA-AU 9 37811371 37811371 single base substitution T A intron_variant MELA-AU 9 37812538 37812538 single base substitution C T intron_variant MELA-AU 9 37813318 37813318 single base substitution C T intron_variant MELA-AU 9 37814206 37814206 single base substitution G A intron_variant MELA-AU 9 37814429 37814429 single base substitution G A intron_variant MELA-AU 9 37814429 37814429 single base substitution G A upstream_gene_variant MELA-AU 9 37815773 37815773 single base substitution C T intron_variant MELA-AU 9 37815773 37815773 single base substitution C T upstream_gene_variant MELA-AU 9 37815950 37815950 single base substitution C T intron_variant MELA-AU 9 37815950 37815950 single base substitution C T upstream_gene_variant MELA-AU 9 37817882 37817882 single base substitution C T intron_variant MELA-AU 9 37817882 37817882 single base substitution C T upstream_gene_variant MELA-AU 9 37818099 37818099 single base substitution C T intron_variant MELA-AU 9 37818099 37818099 single base substitution C T upstream_gene_variant MELA-AU 9 37818105 37818105 single base substitution T A intron_variant MELA-AU 9 37818105 37818105 single base substitution T A upstream_gene_variant MELA-AU 9 37820751 37820751 single base substitution C T intron_variant MELA-AU 9 37821537 37821537 single base substitution C T intron_variant MELA-AU 9 37824098 37824098 single base substitution G C intron_variant MELA-AU 9 37826186 37826186 single base substitution C T intron_variant MELA-AU 9 37826545 37826545 single base substitution C T intron_variant MELA-AU 9 37827484 37827484 single base substitution C T intron_variant MELA-AU 9 37830112 37830112 single base substitution C A intron_variant MELA-AU 9 37830471 37830471 single base substitution C G intron_variant MELA-AU 9 37830907 37830907 single base substitution C T intron_variant MELA-AU 9 37831040 37831040 single base substitution T C intron_variant MELA-AU 9 37831214 37831214 single base substitution A C intron_variant MELA-AU 9 37831671 37831671 single base substitution C T intron_variant MELA-AU 9 37832777 37832777 single base substitution C T intron_variant MELA-AU 9 37835059 37835060 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 37841928 37841928 single base substitution T C intron_variant MELA-AU 9 37846694 37846694 single base substitution C A intron_variant MELA-AU 9 37847538 37847538 single base substitution T C intron_variant MELA-AU 9 37848005 37848005 single base substitution G A intron_variant MELA-AU 9 37849413 37849413 single base substitution G A intron_variant MELA-AU 9 37850080 37850080 single base substitution G T intron_variant MELA-AU 9 37850080 37850080 single base substitution G T upstream_gene_variant MELA-AU 9 37850999 37851000 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 37850999 37851000 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 9 37854601 37854601 single base substitution C T intron_variant MELA-AU 9 37854601 37854601 single base substitution C T upstream_gene_variant MELA-AU 9 37855975 37855975 single base substitution C T intron_variant MELA-AU 9 37855975 37855975 single base substitution C T upstream_gene_variant MELA-AU 9 37856818 37856818 single base substitution G A intron_variant MELA-AU 9 37856818 37856818 single base substitution G A upstream_gene_variant MELA-AU 9 37858903 37858903 single base substitution C T intron_variant MELA-AU 9 37862928 37862928 single base substitution G A 3_prime_UTR_variant MELA-AU 9 37862928 37862928 single base substitution G A downstream_gene_variant MELA-AU 9 37862928 37862928 single base substitution G A exon_variant MELA-AU 9 37863310 37863310 single base substitution G A 3_prime_UTR_variant MELA-AU 9 37863310 37863310 single base substitution G A downstream_gene_variant MELA-AU 9 37863310 37863310 single base substitution G A exon_variant MELA-AU 9 37863500 37863500 single base substitution T C 3_prime_UTR_variant MELA-AU 9 37863500 37863500 single base substitution T C downstream_gene_variant MELA-AU 9 37866797 37866797 single base substitution A G 3_prime_UTR_variant MELA-AU 9 37866797 37866797 single base substitution A G downstream_gene_variant MELA-AU 9 37866904 37866904 single base substitution A G 3_prime_UTR_variant MELA-AU 9 37866904 37866904 single base substitution A G downstream_gene_variant MELA-AU 9 37867477 37867477 single base substitution G A 3_prime_UTR_variant MELA-AU 9 37867477 37867477 single base substitution G A downstream_gene_variant MELA-AU 9 37867479 37867479 single base substitution G A 3_prime_UTR_variant MELA-AU 9 37867479 37867479 single base substitution G A downstream_gene_variant MELA-AU 9 37868427 37868427 single base substitution G A downstream_gene_variant ORCA-IN 9 37831341 37831341 single base substitution C A intron_variant OV-AU 9 37806002 37806002 single base substitution G T intron_variant OV-AU 9 37809015 37809015 single base substitution G A intron_variant OV-AU 9 37812680 37812680 single base substitution G C intron_variant OV-AU 9 37815217 37815217 single base substitution A G intron_variant OV-AU 9 37815217 37815217 single base substitution A G upstream_gene_variant OV-AU 9 37816016 37816016 single base substitution C T intron_variant OV-AU 9 37816016 37816016 single base substitution C T upstream_gene_variant OV-AU 9 37816353 37816353 single base substitution A C intron_variant OV-AU 9 37816353 37816353 single base substitution A C upstream_gene_variant OV-AU 9 37818608 37818608 single base substitution G C intron_variant OV-AU 9 37818608 37818608 single base substitution G C upstream_gene_variant OV-AU 9 37821288 37821288 single base substitution C G intron_variant OV-AU 9 37822449 37822449 single base substitution T C intron_variant OV-AU 9 37827327 37827327 single base substitution A T intron_variant OV-AU 9 37828215 37828215 single base substitution C G intron_variant OV-AU 9 37833017 37833017 single base substitution T C intron_variant OV-AU 9 37843524 37843524 single base substitution G C intron_variant OV-AU 9 37844111 37844111 single base substitution T A intron_variant OV-AU 9 37844265 37844265 single base substitution C T intron_variant OV-AU 9 37846618 37846618 single base substitution T C intron_variant OV-AU 9 37853559 37853559 single base substitution T C intron_variant OV-AU 9 37853559 37853559 single base substitution T C upstream_gene_variant OV-AU 9 37858557 37858557 single base substitution C G intron_variant OV-AU 9 37862907 37862907 single base substitution T A 3_prime_UTR_variant OV-AU 9 37862907 37862907 single base substitution T A downstream_gene_variant OV-AU 9 37862907 37862907 single base substitution T A exon_variant PACA-AU 9 37797862 37797862 single base substitution C T upstream_gene_variant PACA-AU 9 37798858 37798858 single base substitution T G upstream_gene_variant PACA-AU 9 37799110 37799110 single base substitution C T upstream_gene_variant PACA-AU 9 37805271 37805271 single base substitution G T intron_variant PACA-AU 9 37812078 37812078 single base substitution G A intron_variant PACA-AU 9 37817068 37817079 deletion of <=200bp GAACAAAACTTG - intron_variant PACA-AU 9 37817068 37817079 deletion of <=200bp GAACAAAACTTG - upstream_gene_variant PACA-AU 9 37817590 37817615 deletion of <=200bp GTCTCAGAAAAAAAGAATCTCCCAGA - intron_variant PACA-AU 9 37817590 37817615 deletion of <=200bp GTCTCAGAAAAAAAGAATCTCCCAGA - upstream_gene_variant PACA-AU 9 37818904 37818904 single base substitution T G intron_variant PACA-AU 9 37818904 37818904 single base substitution T G upstream_gene_variant PACA-AU 9 37820588 37820588 single base substitution T G intron_variant PACA-AU 9 37828603 37828603 single base substitution T C intron_variant PACA-AU 9 37828795 37828795 insertion of <=200bp - A intron_variant PACA-AU 9 37831119 37831119 single base substitution C T intron_variant PACA-AU 9 37835530 37835530 single base substitution G A intron_variant PACA-AU 9 37847127 37847127 single base substitution G A intron_variant PACA-AU 9 37848734 37848734 single base substitution C T intron_variant PACA-AU 9 37863792 37863792 single base substitution T G 3_prime_UTR_variant PACA-AU 9 37863792 37863792 single base substitution T G downstream_gene_variant PACA-AU 9 37866301 37866301 deletion of <=200bp A - 3_prime_UTR_variant PACA-AU 9 37866301 37866301 deletion of <=200bp A - downstream_gene_variant PACA-AU 9 37868315 37868315 single base substitution A T downstream_gene_variant PACA-AU 9 37870179 37870179 single base substitution T A downstream_gene_variant PACA-CA 9 37795786 37795786 single base substitution G A upstream_gene_variant PACA-CA 9 37797451 37797451 single base substitution C G upstream_gene_variant PACA-CA 9 37802165 37802165 single base substitution C T intron_variant PACA-CA 9 37810375 37810375 single base substitution G C intron_variant PACA-CA 9 37811404 37811404 single base substitution G A intron_variant PACA-CA 9 37811426 37811426 single base substitution G A intron_variant PACA-CA 9 37811857 37811857 single base substitution C T intron_variant PACA-CA 9 37812266 37812266 deletion of <=200bp A - intron_variant PACA-CA 9 37816255 37816255 single base substitution A T intron_variant PACA-CA 9 37816255 37816255 single base substitution A T upstream_gene_variant PACA-CA 9 37820433 37820433 single base substitution G C intron_variant PACA-CA 9 37823228 37823228 single base substitution G A intron_variant PACA-CA 9 37836941 37836941 single base substitution T C intron_variant PACA-CA 9 37837283 37837283 single base substitution C A intron_variant PACA-CA 9 37838217 37838217 single base substitution T C intron_variant PACA-CA 9 37839075 37839075 single base substitution C T intron_variant PACA-CA 9 37841131 37841141 deletion of <=200bp CAAGAATTAGC - intron_variant PACA-CA 9 37856166 37856166 deletion of <=200bp A - intron_variant PACA-CA 9 37856166 37856166 deletion of <=200bp A - upstream_gene_variant PACA-CA 9 37860513 37860513 single base substitution C G downstream_gene_variant PACA-CA 9 37860513 37860513 single base substitution C G intron_variant PACA-CA 9 37870178 37870178 single base substitution T A downstream_gene_variant PACA-CA 9 37871212 37871212 single base substitution C T downstream_gene_variant PAEN-AU 9 37798764 37798764 single base substitution C G upstream_gene_variant PAEN-AU 9 37837240 37837240 single base substitution G A intron_variant PBCA-DE 9 37800313 37800313 insertion of <=200bp - T upstream_gene_variant PBCA-DE 9 37805705 37805707 deletion of <=200bp AAT - intron_variant PBCA-DE 9 37808502 37808502 deletion of <=200bp C - intron_variant PBCA-DE 9 37808768 37808768 insertion of <=200bp - A intron_variant PBCA-DE 9 37810750 37810750 single base substitution C T intron_variant PBCA-DE 9 37816657 37816658 deletion of <=200bp GT - intron_variant PBCA-DE 9 37816657 37816658 deletion of <=200bp GT - upstream_gene_variant PBCA-DE 9 37821249 37821249 single base substitution A G intron_variant PBCA-DE 9 37829700 37829700 insertion of <=200bp - T intron_variant PBCA-DE 9 37846507 37846507 insertion of <=200bp - T intron_variant PRAD-CA 9 37808652 37808652 single base substitution A T intron_variant PRAD-CA 9 37833721 37833721 single base substitution C G intron_variant PRAD-CA 9 37834635 37834635 single base substitution C G intron_variant PRAD-CA 9 37840159 37840159 single base substitution A G intron_variant PRAD-UK 9 37795954 37795954 single base substitution G A upstream_gene_variant PRAD-UK 9 37802734 37802734 single base substitution G A intron_variant PRAD-UK 9 37808408 37808408 single base substitution C T intron_variant PRAD-UK 9 37816313 37816313 single base substitution C T intron_variant PRAD-UK 9 37816313 37816313 single base substitution C T upstream_gene_variant PRAD-UK 9 37822311 37822311 single base substitution C A intron_variant PRAD-UK 9 37850265 37850265 single base substitution C A intron_variant PRAD-UK 9 37850265 37850265 single base substitution C A upstream_gene_variant PRAD-UK 9 37867826 37867826 single base substitution C T downstream_gene_variant PRAD-UK 9 37870193 37870193 insertion of <=200bp - T downstream_gene_variant PRAD-UK 9 37870814 37870814 single base substitution G A downstream_gene_variant READ-US 9 37860057 37860057 single base substitution G A exon_variant READ-US 9 37860057 37860057 single base substitution G A missense_variant R356Q 1067G>A READ-US 9 37860057 37860057 single base substitution G A missense_variant R393Q 1178G>A RECA-EU 9 37798737 37798737 single base substitution A T upstream_gene_variant RECA-EU 9 37812007 37812007 single base substitution A T intron_variant RECA-EU 9 37843638 37843638 single base substitution C A intron_variant RECA-EU 9 37849775 37849775 single base substitution G A intron_variant SKCA-BR 9 37798090 37798091 deletion of <=200bp TC - upstream_gene_variant SKCA-BR 9 37802234 37802234 single base substitution A G intron_variant SKCA-BR 9 37807656 37807656 insertion of <=200bp - TTTTC intron_variant SKCA-BR 9 37813178 37813178 single base substitution A C intron_variant SKCA-BR 9 37814051 37814051 single base substitution T C intron_variant SKCA-BR 9 37814077 37814091 deletion of <=200bp CTATATATATATATA - intron_variant SKCA-BR 9 37814719 37814719 single base substitution T C intron_variant SKCA-BR 9 37814719 37814719 single base substitution T C upstream_gene_variant SKCA-BR 9 37816587 37816588 deletion of <=200bp CA - intron_variant SKCA-BR 9 37816587 37816588 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 9 37817735 37817735 insertion of <=200bp - CA intron_variant SKCA-BR 9 37817735 37817735 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 9 37826875 37826875 single base substitution A T intron_variant SKCA-BR 9 37827816 37827816 single base substitution G A intron_variant SKCA-BR 9 37828039 37828039 single base substitution C T intron_variant SKCA-BR 9 37828220 37828220 single base substitution G A intron_variant SKCA-BR 9 37830645 37830645 single base substitution C T intron_variant SKCA-BR 9 37832085 37832085 single base substitution T G intron_variant SKCA-BR 9 37832849 37832849 single base substitution C T intron_variant SKCA-BR 9 37840536 37840536 single base substitution T C intron_variant SKCA-BR 9 37845769 37845769 single base substitution A G intron_variant SKCA-BR 9 37846262 37846262 single base substitution A C intron_variant SKCA-BR 9 37847293 37847293 single base substitution T C intron_variant SKCA-BR 9 37850825 37850825 single base substitution A T intron_variant SKCA-BR 9 37850825 37850825 single base substitution A T upstream_gene_variant SKCA-BR 9 37850847 37850847 single base substitution A T intron_variant SKCA-BR 9 37850847 37850847 single base substitution A T upstream_gene_variant SKCA-BR 9 37853966 37853966 single base substitution C T intron_variant SKCA-BR 9 37853966 37853966 single base substitution C T upstream_gene_variant SKCA-BR 9 37862778 37862778 single base substitution G A 3_prime_UTR_variant SKCA-BR 9 37862778 37862778 single base substitution G A downstream_gene_variant SKCA-BR 9 37862778 37862778 single base substitution G A exon_variant SKCA-BR 9 37863653 37863653 single base substitution A C 3_prime_UTR_variant SKCA-BR 9 37863653 37863653 single base substitution A C downstream_gene_variant SKCA-BR 9 37867191 37867191 single base substitution T C 3_prime_UTR_variant SKCA-BR 9 37867191 37867191 single base substitution T C downstream_gene_variant STAD-US 9 37861193 37861193 single base substitution C T downstream_gene_variant STAD-US 9 37861193 37861193 single base substitution C T exon_variant STAD-US 9 37861193 37861193 single base substitution C T synonymous_variant R419R 1257C>T STAD-US 9 37861193 37861193 single base substitution C T synonymous_variant R456R 1368C>T STAD-US 9 37861498 37861498 single base substitution A C downstream_gene_variant STAD-US 9 37861498 37861498 single base substitution A C exon_variant STAD-US 9 37861498 37861498 single base substitution A C missense_variant K521T 1562A>C STAD-US 9 37861498 37861498 single base substitution A C missense_variant K558T 1673A>C THCA-SA 9 37867033 37867033 single base substitution A C 3_prime_UTR_variant THCA-SA 9 37867033 37867033 single base substitution A C downstream_gene_variant UCEC-US 9 37819291 37819291 single base substitution G A exon_variant UCEC-US 9 37819291 37819291 single base substitution G A synonymous_variant V182V 546G>A UCEC-US 9 37842190 37842190 single base substitution C A intron_variant UCEC-US 9 37842190 37842190 single base substitution C A missense_variant T253N 758C>A UCEC-US 9 37842225 37842225 single base substitution A G intron_variant UCEC-US 9 37842225 37842225 single base substitution A G missense_variant T265A 793A>G UCEC-US 9 37854962 37854962 single base substitution G T exon_variant UCEC-US 9 37854962 37854962 single base substitution G T missense_variant R346I 1037G>T UCEC-US 9 37854962 37854962 single base substitution G T upstream_gene_variant UCEC-US 9 37860048 37860048 single base substitution T C exon_variant UCEC-US 9 37860048 37860048 single base substitution T C missense_variant V353A 1058T>C UCEC-US 9 37860048 37860048 single base substitution T C missense_variant V390A 1169T>C UCEC-US 9 37860089 37860089 single base substitution C A exon_variant UCEC-US 9 37860089 37860089 single base substitution C A missense_variant L367I 1099C>A UCEC-US 9 37860089 37860089 single base substitution C A missense_variant L404I 1210C>A UCEC-US 9 37860137 37860137 single base substitution C A exon_variant UCEC-US 9 37860137 37860137 single base substitution C A missense_variant P383T 1147C>A UCEC-US 9 37860137 37860137 single base substitution C A missense_variant P420T 1258C>A UCEC-US 9 37861176 37861176 single base substitution C T downstream_gene_variant UCEC-US 9 37861176 37861176 single base substitution C T exon_variant UCEC-US 9 37861176 37861176 single base substitution C T stop_gained R414* 1240C>T UCEC-US 9 37861176 37861176 single base substitution C T stop_gained R451* 1351C>T UCEC-US 9 37861177 37861177 single base substitution G A downstream_gene_variant UCEC-US 9 37861177 37861177 single base substitution G A exon_variant UCEC-US 9 37861177 37861177 single base substitution G A missense_variant R414Q 1241G>A UCEC-US 9 37861177 37861177 single base substitution G A missense_variant R451Q 1352G>A UCEC-US 9 37861311 37861311 single base substitution C T downstream_gene_variant UCEC-US 9 37861311 37861311 single base substitution C T exon_variant UCEC-US 9 37861311 37861311 single base substitution C T missense_variant R459C 1375C>T UCEC-US 9 37861311 37861311 single base substitution C T missense_variant R496C 1486C>T UCEC-US 9 37861385 37861385 single base substitution G T downstream_gene_variant UCEC-US 9 37861385 37861385 single base substitution G T exon_variant UCEC-US 9 37861385 37861385 single base substitution G T synonymous_variant V483V 1449G>T UCEC-US 9 37861385 37861385 single base substitution G T synonymous_variant V520V 1560G>T UCEC-US 9 37861389 37861389 single base substitution C T downstream_gene_variant UCEC-US 9 37861389 37861389 single base substitution C T exon_variant UCEC-US 9 37861389 37861389 single base substitution C T missense_variant R485C 1453C>T UCEC-US 9 37861389 37861389 single base substitution C T missense_variant R522C 1564C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 587376 COSM1203036 c.998C>A p.S333Y Substitution - Missense 9:37854926-37854926 + H1155 COSM1196147 c.1555C>T p.R519W Substitution - Missense 9:37861383-37861383 + T231 COSM4676309 c.1348G>T p.V450L Substitution - Missense 9:37861176-37861176 + CSCC-20-T COSM4524623 c.1283G>A p.R428Q Substitution - Missense 9:37860165-37860165 + TCGA-AP-A051-01 COSM1109078 c.1351C>T p.R451* Substitution - Nonsense 9:37861179-37861179 + QC2-34-T2 COSM5654818 c.1384A>T p.T462S Substitution - Missense 9:37861212-37861212 + PD6415a COSM5774735 c.1495G>C p.G499R Substitution - Missense 9:37861323-37861323 + TCGA-B5-A0JY-01 COSM1109073 c.793A>G p.T265A Substitution - Missense 9:37842228-37842228 + TCGA-BK-A0CB-01 COSM1109081 c.1560G>T p.V520V Substitution - coding silent 9:37861388-37861388 + CHC879T COSM4806123 c.315G>T p.K105N Substitution - Missense 9:37801181-37801181 + TCGA-QG-A5Z2-01 COSM5186737 c.609delA p.T205fs*10 Deletion - Frameshift 9:37819357-37819357 + TCGA-B5-A0JZ-01 COSM1109072 c.758C>A p.T253N Substitution - Missense 9:37842193-37842193 + TCGA-AX-A05Z-01 COSM1109074 c.1037G>T p.R346I Substitution - Missense 9:37854965-37854965 + NB-0478 COSM1284414 c.515_516insA p.F172fs*17 Insertion - Frameshift 9:37801381-37801382 + I2L-P7-Tumor-Organoid COSM5359137 c.1055-8delT p.? Unknown 9:37857233-37857233 + CSCC-38-T COSM4466634 c.1445C>T p.P482L Substitution - Missense 9:37861273-37861273 + sysucc-882T COSM5447858 c.341C>T p.A114V Substitution - Missense 9:37801207-37801207 + SC_9054 COSM5559958 c.212T>C p.L71P Substitution - Missense 9:37801078-37801078 + TCGA-A6-2686-01 COSM5086220 c.940T>A p.L314M Substitution - Missense 9:37854868-37854868 + I2L-P19Tb-Tumor-Organoid COSM5359404 c.1565G>A p.R522H Substitution - Missense 9:37861393-37861393 + TCGA-HQ-A2OE-01 COSM1314840 c.739T>C p.C247R Substitution - Missense 9:37842174-37842174 + TCGA-BS-A0UF-01 COSM1109080 c.1486C>T p.R496C Substitution - Missense 9:37861314-37861314 + C662 COSM4443716 c.1014C>A p.S338R Substitution - Missense 9:37854942-37854942 + TCGA-BS-A0UJ-01 COSM1109075 c.1169T>C p.V390A Substitution - Missense 9:37860051-37860051 + J33_T COSM4139381 c.1572G>T p.L524L Substitution - coding silent 9:37861400-37861400 + ME015T COSM224786 c.1156C>G p.Q386E Substitution - Missense 9:37857342-37857342 + TCGA-CM-4743-01 COSM1462449 c.1228G>A p.G410R Substitution - Missense 9:37860110-37860110 + TCGA-AX-A05Z-01 COSM1109076 c.1210C>A p.L404I Substitution - Missense 9:37860092-37860092 + TCGA-BS-A0UF-01 COSM1109077 c.1258C>A p.P420T Substitution - Missense 9:37860140-37860140 + TCGA-HU-A4GH-01 COSM3907412 c.1673A>C p.K558T Substitution - Missense 9:37861501-37861501 + MO_1410 COSM5559839 c.185T>A p.L62Q Substitution - Missense 9:37801051-37801051 + YUBER COSM1701097 c.667C>T p.R223W Substitution - Missense 9:37842102-37842102 + CLL066 COSM1292854 c.35A>G p.D12G Substitution - Missense 9:37800901-37800901 + TCGA-D7-A4YV-01 COSM3907411 c.1368C>T p.R456R Substitution - coding silent 9:37861196-37861196 + TCGA-CC-A7IH-01 COSM4923972 c.1313G>T p.C438F Substitution - Missense 9:37861141-37861141 + PD23574a COSM5771250 c.510C>A p.A170A Substitution - coding silent 9:37801376-37801376 + BD192T COSM5499683 c.1313G>A p.C438Y Substitution - Missense 9:37861141-37861141 + HCC153 COSM2775885 c.705A>G p.A235A Substitution - coding silent 9:37842140-37842140 + S0049 COSM5884858 c.148C>T p.P50S Substitution - Missense 9:37801014-37801014 + TCGA-EI-6513-01 COSM5078673 c.431_432insG p.N144fs*7 Insertion - Frameshift 9:37801297-37801298 + TCGA-EI-6917-01 COSM256734 c.1178G>A p.R393Q Substitution - Missense 9:37860060-37860060 + TCGA-A8-A0A6-01 COSM3848558 c.868T>G p.C290G Substitution - Missense 9:37854796-37854796 + TCGA-22-0944-01 COSM753415 c.538G>T p.G180W Substitution - Missense 9:37801404-37801404 + TCGA-A2-A3Y0-01 COSM5835749 c.860_861insT p.E287fs*7 Insertion - Frameshift 9:37854788-37854789 + TCGA-DK-A1AC-01 COSM1314839 c.694A>T p.T232S Substitution - Missense 9:37842129-37842129 + ESCC_BICR_012T COSM5433239 c.1220G>C p.S407T Substitution - Missense 9:37860102-37860102 + TCGA-AG-3892-01 COSM256734 c.1178G>A p.R393Q Substitution - Missense 9:37860060-37860060 + H358 COSM1194105 c.879G>C p.K293N Substitution - Missense 9:37854807-37854807 + TCGA-AA-3858-01 COSM295909 c.729C>T p.N243N Substitution - coding silent 9:37842164-37842164 + TCGA-BH-A1EY-01 COSM1490027 c.1446C>G p.P482P Substitution - coding silent 9:37861274-37861274 + TCGA-A2-A3Y0-01 COSM5835747 c.858_859insT p.E287fs*1 Insertion - Frameshift 9:37854786-37854787 + T3724 COSM4676311 c.1395T>C p.I465I Substitution - coding silent 9:37861223-37861223 + CHC879T COSM4806123 c.315G>T p.K105N Substitution - Missense 9:37801181-37801181 + TCGA-B0-4710-01 COSM487468 c.563A>G p.E188G Substitution - Missense 9:37819311-37819311 + 6115121 COSM5568102 c.998C>T p.S333F Substitution - Missense 9:37854926-37854926 + TCGA-18-3419-01 COSM753414 c.1668G>A p.Q556Q Substitution - coding silent 9:37861496-37861496 + TCGA-BT-A3PJ-01 COSM3780019 c.1501G>A p.D501N Substitution - Missense 9:37861329-37861329 + LUAD-LC15C COSM342064 c.1016A>G p.Y339C Substitution - Missense 9:37854944-37854944 + TCGA-A2-A3Y0-01 COSM5835748 c.859_860insGT p.E287fs*19 Insertion - Frameshift 9:37854787-37854788 + T2769 COSM4676310 c.1379G>A p.R460Q Substitution - Missense 9:37861207-37861207 + TCGA-AP-A056-01 COSM1109079 c.1352G>A p.R451Q Substitution - Missense 9:37861180-37861180 + PT08_1 COSM5893345 c.1166G>T p.G389V Substitution - Missense 9:37860048-37860048 + NCI-H727 COSM2775881 c.658C>T p.L220F Substitution - Missense 9:37842093-37842093 + PT08_2 COSM5893345 c.1166G>T p.G389V Substitution - Missense 9:37860048-37860048 + LOVO COSM4645685 c.102G>T p.P34P Substitution - coding silent 9:37800968-37800968 + YUFIT COSM5411090 c.1094C>T p.S365F Substitution - Missense 9:37857280-37857280 + LIM2551 COSM4614083 c.102_103insC p.S36fs*8 Insertion - Frameshift 9:37800968-37800969 + TCGA-AP-A054-01 COSM1109082 c.1564C>T p.R522C Substitution - Missense 9:37861392-37861392 + SC_9061 COSM5556545 c.1140C>T p.H380H Substitution - coding silent 9:37857326-37857326 + HCT8 COSM2775885 c.705A>G p.A235A Substitution - coding silent 9:37842140-37842140 + HCC153T COSM2775885 c.705A>G p.A235A Substitution - coding silent 9:37842140-37842140 + TCGA-BG-A0LX-01 COSM1109071 c.546G>A p.V182V Substitution - coding silent 9:37819294-37819294 + Br27P COSM40760 c.1381C>T p.L461L Substitution - coding silent 9:37861209-37861209 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.118394 9p13.2 273931|dbSNP|BC003520|A/G|non-coding||2280|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A Frameshift p.N173Kfs*16 c.518dupA 9 37801379 NB A G Missense p.D12G c.35A>G 9 37800898 CLL A G Synonymous p.P392P c.1176A>G 9 37860055 HNSC A - IntronicDeletion . c.654-6262delT 9 37835824 HC C A Missense p.T253N c.758C>A 9 37842190 UCEC C G Missense p.Q386E c.1156C>G 9 37857339 CM C G Missense p.R383G c.1147C>G 9 37857330 THCA C G Synonymous p.P482P c.1446C>G 9 37861271 BRCA C T Missense p.R522C c.1564C>T 9 37861389 UCEC C T Synonymous p.N243N c.729C>T 9 37842161 COREAD G A Missense p.D501N c.1501G>A 9 37861326 BLCA G A Missense p.R346K c.1037G>A 9 37854962 HNSC G A Synonymous p.Q556Q c.1668G>A 9 37861493 LUSC G A Synonymous p.V182V c.546G>A 9 37819291 UCEC G T Missense p.G180W c.538G>T 9 37801401 LUSC G T Synonymous p.V520V c.1560G>T 9 37861385 UCEC T C Missense p.C247R c.739T>C 9 37842171 BLCA