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 3 3192572 3192572 + Missense_Mutation SNP C C T TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr3:3192572C>T c.1306G>A c.(1306-1308)Gac>Aac p.D436N BLCA 3 3192584 3192584 + Missense_Mutation SNP C C T TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr3:3192584C>T c.1294G>A c.(1294-1296)Gaa>Aaa p.E432K BLCA 3 3194143 3194143 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr3:3194143G>C c.1145C>G c.(1144-1146)cCt>cGt p.P382R BRCA 3 3192638 3192638 + Missense_Mutation SNP A A G TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 g.chr3:3192638A>G c.1240T>C c.(1240-1242)Ttt>Ctt p.F414L BRCA 3 3221322 3221322 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 g.chr3:3221322T>G c.50A>C c.(49-51)cAc>cCc p.H17P CESC 3 3215804 3215804 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 g.chr3:3215804C>T c.316G>A c.(316-318)Gaa>Aaa p.E106K COAD 3 3192604 3192604 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr3:3192604G>A c.1274C>T c.(1273-1275)aCg>aTg p.T425M COAD 3 3197946 3197946 + Missense_Mutation SNP T T G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:3197946T>G c.707A>C c.(706-708)aAt>aCt p.N236T COAD 3 3215765 3215765 + Missense_Mutation SNP T T C TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr3:3215765T>C c.355A>G c.(355-357)Acc>Gcc p.T119A COAD 3 3215788 3215788 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr3:3215788C>T c.332G>A c.(331-333)cGg>cAg p.R111Q COAD 3 3216859 3216859 + Silent SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr3:3216859C>T c.162G>A c.(160-162)ccG>ccA p.P54P COAD 3 3216903 3216903 + Missense_Mutation SNP C C T TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr3:3216903C>T c.118G>A c.(118-120)Gaa>Aaa p.E40K COADREAD 3 3192604 3192604 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr3:3192604G>A c.1274C>T c.(1273-1275)aCg>aTg p.T425M COADREAD 3 3197946 3197946 + Missense_Mutation SNP T T G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:3197946T>G c.707A>C c.(706-708)aAt>aCt p.N236T COADREAD 3 3215765 3215765 + Missense_Mutation SNP T T C TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr3:3215765T>C c.355A>G c.(355-357)Acc>Gcc p.T119A COADREAD 3 3215788 3215788 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr3:3215788C>T c.332G>A c.(331-333)cGg>cAg p.R111Q COADREAD 3 3215804 3215804 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:3215804C>A c.316G>T c.(316-318)Gaa>Taa p.E106* COADREAD 3 3216859 3216859 + Silent SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr3:3216859C>T c.162G>A c.(160-162)ccG>ccA p.P54P COADREAD 3 3216903 3216903 + Missense_Mutation SNP C C T TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr3:3216903C>T c.118G>A c.(118-120)Gaa>Aaa p.E40K ESCA 3 3192657 3192657 + Frame_Shift_Del DEL T T - TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 g.chr3:3192657delT c.1221delA c.(1219-1221)aaafs p.K407fs ESCA 3 3192670 3192670 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 g.chr3:3192670G>A c.1208C>T c.(1207-1209)aCg>aTg p.T403M GBMLGG 3 3214594 3214594 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:3214594C>A c.393G>T c.(391-393)agG>agT p.R131S HNSC 3 3215782 3215782 + Missense_Mutation SNP A A G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 g.chr3:3215782A>G c.338T>C c.(337-339)tTa>tCa p.L113S HNSC 3 3215894 3215894 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 g.chr3:3215894C>T c.226G>A c.(226-228)Gac>Aac p.D76N KIPAN 3 3209360 3209360 + Silent SNP T T C TCGA-AL-7173-01A-11D-2136-08 TCGA-AL-7173-10A-01D-2136-08 g.chr3:3209360T>C c.645A>G c.(643-645)agA>agG p.R215R KIPAN 3 3209472 3209472 + Missense_Mutation SNP T T G TCGA-IA-A40X-01A-11D-A25F-10 TCGA-IA-A40X-10A-01D-A25F-10 g.chr3:3209472T>G c.533A>C c.(532-534)cAg>cCg p.Q178P KIRP 3 3209360 3209360 + Silent SNP T T C TCGA-AL-7173-01A-11D-2136-08 TCGA-AL-7173-10A-01D-2136-08 g.chr3:3209360T>C c.645A>G c.(643-645)agA>agG p.R215R KIRP 3 3209472 3209472 + Missense_Mutation SNP T T G TCGA-IA-A40X-01A-11D-A25F-10 TCGA-IA-A40X-10A-01D-A25F-10 g.chr3:3209472T>G c.533A>C c.(532-534)cAg>cCg p.Q178P LGG 3 3214594 3214594 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:3214594C>A c.393G>T c.(391-393)agG>agT p.R131S LIHC 3 3221342 3221342 + Silent SNP A A G TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr3:3221342A>G c.30T>C c.(28-30)gcT>gcC p.A10A LUAD 3 3221358 3221358 + Missense_Mutation SNP C C A TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr3:3221358C>A c.14G>T c.(13-15)gGa>gTa p.G5V OV 3 3215765 3215765 + Missense_Mutation SNP T T C TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 g.chr3:3215765T>C c.355A>G c.(355-357)Acc>Gcc p.T119A PAAD 3 3215924 3215924 + Nonsense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:3215924C>A c.196G>T c.(196-198)Gaa>Taa p.E66* PRAD 3 3215789 3215789 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:3215789G>A c.331C>T c.(331-333)Cgg>Tgg p.R111W READ 3 3215804 3215804 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:3215804C>A c.316G>T c.(316-318)Gaa>Taa p.E106*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 3 3192660 3192660 single base substitution T G downstream_gene_variant BLCA-CN 3 3192660 3192660 single base substitution T G exon_variant BLCA-CN 3 3192660 3192660 single base substitution T G missense_variant K357N 1071A>C BLCA-CN 3 3192660 3192660 single base substitution T G missense_variant K405N 1215A>C BLCA-CN 3 3192660 3192660 single base substitution T G missense_variant K406N 1218A>C BLCA-US 3 3189210 3189210 single base substitution G A downstream_gene_variant BLCA-US 3 3194143 3194143 single base substitution G C downstream_gene_variant BLCA-US 3 3194143 3194143 single base substitution G C exon_variant BLCA-US 3 3194143 3194143 single base substitution G C intron_variant BLCA-US 3 3194143 3194143 single base substitution G C missense_variant P381R 1142C>G BLCA-US 3 3194143 3194143 single base substitution G C missense_variant P382R 1145C>G BOCA-FR 3 3214017 3214017 single base substitution T C downstream_gene_variant BOCA-FR 3 3214017 3214017 single base substitution T C exon_variant BOCA-FR 3 3214017 3214017 single base substitution T C intron_variant BRCA-EU 3 3186604 3186605 deletion of <=200bp TA - downstream_gene_variant BRCA-EU 3 3186959 3186959 single base substitution C T downstream_gene_variant BRCA-EU 3 3189086 3189086 insertion of <=200bp - T downstream_gene_variant BRCA-EU 3 3189358 3189358 single base substitution T C downstream_gene_variant BRCA-EU 3 3189685 3189685 single base substitution T C downstream_gene_variant BRCA-EU 3 3195634 3195634 single base substitution C T downstream_gene_variant BRCA-EU 3 3195634 3195634 single base substitution C T exon_variant BRCA-EU 3 3195634 3195634 single base substitution C T intron_variant BRCA-EU 3 3196369 3196369 single base substitution G A downstream_gene_variant BRCA-EU 3 3196369 3196369 single base substitution G A exon_variant BRCA-EU 3 3196369 3196369 single base substitution G A intron_variant BRCA-EU 3 3196369 3196369 single base substitution G A upstream_gene_variant BRCA-EU 3 3199700 3199700 single base substitution G A intron_variant BRCA-EU 3 3199700 3199700 single base substitution G A upstream_gene_variant BRCA-EU 3 3200073 3200073 single base substitution C T intron_variant BRCA-EU 3 3200073 3200073 single base substitution C T upstream_gene_variant BRCA-EU 3 3201090 3201090 single base substitution G C intron_variant BRCA-EU 3 3201090 3201090 single base substitution G C upstream_gene_variant BRCA-EU 3 3201917 3201917 single base substitution G T intron_variant BRCA-EU 3 3201917 3201917 single base substitution G T upstream_gene_variant BRCA-EU 3 3202127 3202127 single base substitution G C intron_variant BRCA-EU 3 3202127 3202127 single base substitution G C upstream_gene_variant BRCA-EU 3 3203551 3203551 single base substitution C A intron_variant BRCA-EU 3 3204001 3204001 deletion of <=200bp T - intron_variant BRCA-EU 3 3204181 3204181 single base substitution T C downstream_gene_variant BRCA-EU 3 3204181 3204181 single base substitution T C intron_variant BRCA-EU 3 3205409 3205409 single base substitution G C downstream_gene_variant BRCA-EU 3 3205409 3205409 single base substitution G C intron_variant BRCA-EU 3 3205446 3205446 single base substitution A G downstream_gene_variant BRCA-EU 3 3205446 3205446 single base substitution A G intron_variant BRCA-EU 3 3205500 3205503 deletion of <=200bp AAAC - downstream_gene_variant BRCA-EU 3 3205500 3205503 deletion of <=200bp AAAC - intron_variant BRCA-EU 3 3208095 3208095 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 3208095 3208095 deletion of <=200bp T - intron_variant BRCA-EU 3 3212484 3212484 single base substitution G C downstream_gene_variant BRCA-EU 3 3212484 3212484 single base substitution G C intron_variant BRCA-EU 3 3212583 3212583 single base substitution G A downstream_gene_variant BRCA-EU 3 3212583 3212583 single base substitution G A intron_variant BRCA-EU 3 3213165 3213165 single base substitution T A downstream_gene_variant BRCA-EU 3 3213165 3213165 single base substitution T A intron_variant BRCA-EU 3 3213522 3213522 single base substitution A G downstream_gene_variant BRCA-EU 3 3213522 3213522 single base substitution A G intron_variant BRCA-EU 3 3214921 3214921 single base substitution T C downstream_gene_variant BRCA-EU 3 3214921 3214921 single base substitution T C intron_variant BRCA-EU 3 3214921 3214921 single base substitution T C upstream_gene_variant BRCA-EU 3 3216972 3216972 single base substitution G T intron_variant BRCA-EU 3 3216972 3216972 single base substitution G T upstream_gene_variant BRCA-EU 3 3220573 3220573 single base substitution T C intron_variant BRCA-EU 3 3220573 3220573 single base substitution T C upstream_gene_variant BRCA-EU 3 3221982 3221982 single base substitution G A upstream_gene_variant BRCA-EU 3 3222160 3222160 single base substitution G T upstream_gene_variant BRCA-EU 3 3224969 3224969 single base substitution A G upstream_gene_variant BRCA-EU 3 3226254 3226254 insertion of <=200bp - T upstream_gene_variant BRCA-FR 3 3196369 3196369 single base substitution G A downstream_gene_variant BRCA-FR 3 3196369 3196369 single base substitution G A exon_variant BRCA-FR 3 3196369 3196369 single base substitution G A intron_variant BRCA-FR 3 3196369 3196369 single base substitution G A upstream_gene_variant BRCA-FR 3 3199289 3199289 single base substitution A C intron_variant BRCA-FR 3 3199289 3199289 single base substitution A C upstream_gene_variant BRCA-FR 3 3201090 3201090 single base substitution G C intron_variant BRCA-FR 3 3201090 3201090 single base substitution G C upstream_gene_variant BRCA-FR 3 3214186 3214186 single base substitution T G downstream_gene_variant BRCA-FR 3 3214186 3214186 single base substitution T G exon_variant BRCA-FR 3 3214186 3214186 single base substitution T G intron_variant BRCA-FR 3 3217522 3217522 single base substitution A G intron_variant BRCA-FR 3 3217522 3217522 single base substitution A G upstream_gene_variant BRCA-FR 3 3219762 3219762 single base substitution C A intron_variant BRCA-FR 3 3219762 3219762 single base substitution C A upstream_gene_variant BRCA-UK 3 3199700 3199700 single base substitution G A intron_variant BRCA-UK 3 3199700 3199700 single base substitution G A upstream_gene_variant BRCA-UK 3 3225734 3225734 single base substitution G C upstream_gene_variant BRCA-US 3 3189137 3189137 single base substitution T C downstream_gene_variant BRCA-US 3 3189148 3189148 single base substitution G A downstream_gene_variant BRCA-US 3 3189187 3189187 single base substitution G A downstream_gene_variant BRCA-US 3 3189339 3189339 single base substitution A G downstream_gene_variant BRCA-US 3 3192638 3192638 single base substitution A G downstream_gene_variant BRCA-US 3 3192638 3192638 single base substitution A G exon_variant BRCA-US 3 3192638 3192638 single base substitution A G missense_variant F365L 1093T>C BRCA-US 3 3192638 3192638 single base substitution A G missense_variant F413L 1237T>C BRCA-US 3 3192638 3192638 single base substitution A G missense_variant F414L 1240T>C BRCA-US 3 3221322 3221322 single base substitution T G exon_variant BRCA-US 3 3221322 3221322 single base substitution T G missense_variant H12P 35A>C BRCA-US 3 3221322 3221322 single base substitution T G missense_variant H17P 50A>C BRCA-US 3 3221322 3221322 single base substitution T G upstream_gene_variant BTCA-JP 3 3192603 3192603 single base substitution C T downstream_gene_variant BTCA-JP 3 3192603 3192603 single base substitution C T exon_variant BTCA-JP 3 3192603 3192603 single base substitution C T synonymous_variant T376T 1128G>A BTCA-JP 3 3192603 3192603 single base substitution C T synonymous_variant T424T 1272G>A BTCA-JP 3 3192603 3192603 single base substitution C T synonymous_variant T425T 1275G>A BTCA-JP 3 3196463 3196463 single base substitution A C downstream_gene_variant BTCA-JP 3 3196463 3196463 single base substitution A C exon_variant BTCA-JP 3 3196463 3196463 single base substitution A C missense_variant L263R 788T>G BTCA-JP 3 3196463 3196463 single base substitution A C missense_variant L267R 800T>G BTCA-JP 3 3196463 3196463 single base substitution A C missense_variant L268R 803T>G BTCA-JP 3 3196463 3196463 single base substitution A C upstream_gene_variant BTCA-JP 3 3215788 3215788 single base substitution C T exon_variant BTCA-JP 3 3215788 3215788 single base substitution C T missense_variant R106Q 317G>A BTCA-JP 3 3215788 3215788 single base substitution C T missense_variant R110Q 329G>A BTCA-JP 3 3215788 3215788 single base substitution C T missense_variant R111Q 332G>A BTCA-JP 3 3215788 3215788 single base substitution C T upstream_gene_variant BTCA-JP 3 3216977 3216977 deletion of <=200bp A - intron_variant BTCA-JP 3 3216977 3216977 deletion of <=200bp A - upstream_gene_variant CESC-US 3 3215804 3215804 single base substitution C T exon_variant CESC-US 3 3215804 3215804 single base substitution C T missense_variant E101K 301G>A CESC-US 3 3215804 3215804 single base substitution C T missense_variant E105K 313G>A CESC-US 3 3215804 3215804 single base substitution C T missense_variant E106K 316G>A CESC-US 3 3215804 3215804 single base substitution C T upstream_gene_variant CLLE-ES 3 3192201 3192201 deletion of <=200bp G - 3_prime_UTR_variant CLLE-ES 3 3192201 3192201 deletion of <=200bp G - downstream_gene_variant CLLE-ES 3 3192201 3192201 deletion of <=200bp G - exon_variant CLLE-ES 3 3193179 3193179 single base substitution A T downstream_gene_variant CLLE-ES 3 3193179 3193179 single base substitution A T intron_variant COAD-US 3 3189279 3189279 single base substitution A G downstream_gene_variant COAD-US 3 3215788 3215788 single base substitution C T exon_variant COAD-US 3 3215788 3215788 single base substitution C T missense_variant R106Q 317G>A COAD-US 3 3215788 3215788 single base substitution C T missense_variant R110Q 329G>A COAD-US 3 3215788 3215788 single base substitution C T missense_variant R111Q 332G>A COAD-US 3 3215788 3215788 single base substitution C T upstream_gene_variant COCA-CN 3 3188042 3188042 single base substitution A C downstream_gene_variant COCA-CN 3 3188231 3188232 multiple base substitution (>=2bp and <=200bp) GA AG downstream_gene_variant COCA-CN 3 3189373 3189373 single base substitution G T downstream_gene_variant COCA-CN 3 3195249 3195249 single base substitution G T downstream_gene_variant COCA-CN 3 3195249 3195249 single base substitution G T exon_variant COCA-CN 3 3195249 3195249 single base substitution G T intron_variant COCA-CN 3 3209394 3209394 single base substitution T G downstream_gene_variant COCA-CN 3 3209394 3209394 single base substitution T G exon_variant COCA-CN 3 3209394 3209394 single base substitution T G missense_variant K199T 596A>C COCA-CN 3 3209394 3209394 single base substitution T G missense_variant K203T 608A>C COCA-CN 3 3209394 3209394 single base substitution T G missense_variant K204T 611A>C COCA-CN 3 3214750 3214750 single base substitution T G downstream_gene_variant COCA-CN 3 3214750 3214750 single base substitution T G intron_variant COCA-CN 3 3214750 3214750 single base substitution T G upstream_gene_variant COCA-CN 3 3215654 3215654 single base substitution G A exon_variant COCA-CN 3 3215654 3215654 single base substitution G A intron_variant COCA-CN 3 3215654 3215654 single base substitution G A upstream_gene_variant COCA-CN 3 3215950 3215950 single base substitution A T intron_variant COCA-CN 3 3215950 3215950 single base substitution A T splice_region_variant COCA-CN 3 3215950 3215950 single base substitution A T upstream_gene_variant EOPC-DE 3 3219218 3219218 single base substitution T C intron_variant EOPC-DE 3 3219218 3219218 single base substitution T C upstream_gene_variant EOPC-DE 3 3222274 3222274 single base substitution G A upstream_gene_variant ESAD-UK 3 3187439 3187439 single base substitution A C downstream_gene_variant ESAD-UK 3 3187898 3187898 single base substitution T G downstream_gene_variant ESAD-UK 3 3189484 3189484 single base substitution T G downstream_gene_variant ESAD-UK 3 3189608 3189608 single base substitution A G downstream_gene_variant ESAD-UK 3 3191599 3191599 single base substitution C T downstream_gene_variant ESAD-UK 3 3191599 3191599 single base substitution C T exon_variant ESAD-UK 3 3191968 3191968 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 3191968 3191968 single base substitution C T downstream_gene_variant ESAD-UK 3 3191968 3191968 single base substitution C T exon_variant ESAD-UK 3 3192833 3192833 single base substitution T G downstream_gene_variant ESAD-UK 3 3192833 3192833 single base substitution T G intron_variant ESAD-UK 3 3197652 3197652 single base substitution G A downstream_gene_variant ESAD-UK 3 3197652 3197652 single base substitution G A exon_variant ESAD-UK 3 3197652 3197652 single base substitution G A intron_variant ESAD-UK 3 3197652 3197652 single base substitution G A upstream_gene_variant ESAD-UK 3 3201469 3201469 single base substitution C A intron_variant ESAD-UK 3 3201469 3201469 single base substitution C A upstream_gene_variant ESAD-UK 3 3203872 3203872 single base substitution C T intron_variant ESAD-UK 3 3206573 3206573 single base substitution G A downstream_gene_variant ESAD-UK 3 3206573 3206573 single base substitution G A intron_variant ESAD-UK 3 3209214 3209214 single base substitution G A 3_prime_UTR_variant ESAD-UK 3 3209214 3209214 single base substitution G A downstream_gene_variant ESAD-UK 3 3209214 3209214 single base substitution G A intron_variant ESAD-UK 3 3210997 3210997 single base substitution T C downstream_gene_variant ESAD-UK 3 3210997 3210997 single base substitution T C intron_variant ESAD-UK 3 3213484 3213484 single base substitution A C downstream_gene_variant ESAD-UK 3 3213484 3213484 single base substitution A C intron_variant ESAD-UK 3 3214213 3214213 single base substitution C T downstream_gene_variant ESAD-UK 3 3214213 3214213 single base substitution C T exon_variant ESAD-UK 3 3214213 3214213 single base substitution C T intron_variant ESAD-UK 3 3214471 3214471 single base substitution T A downstream_gene_variant ESAD-UK 3 3214471 3214471 single base substitution T A exon_variant ESAD-UK 3 3214471 3214471 single base substitution T A synonymous_variant T167T 501A>T ESAD-UK 3 3214471 3214471 single base substitution T A synonymous_variant T171T 513A>T ESAD-UK 3 3214471 3214471 single base substitution T A synonymous_variant T172T 516A>T ESAD-UK 3 3215101 3215101 single base substitution T A downstream_gene_variant ESAD-UK 3 3215101 3215101 single base substitution T A intron_variant ESAD-UK 3 3215101 3215101 single base substitution T A upstream_gene_variant ESAD-UK 3 3215841 3215841 single base substitution G A exon_variant ESAD-UK 3 3215841 3215841 single base substitution G A synonymous_variant P88P 264C>T ESAD-UK 3 3215841 3215841 single base substitution G A synonymous_variant P92P 276C>T ESAD-UK 3 3215841 3215841 single base substitution G A synonymous_variant P93P 279C>T ESAD-UK 3 3215841 3215841 single base substitution G A upstream_gene_variant ESAD-UK 3 3216444 3216444 single base substitution A T intron_variant ESAD-UK 3 3216444 3216444 single base substitution A T upstream_gene_variant ESAD-UK 3 3216613 3216613 single base substitution C T intron_variant ESAD-UK 3 3216613 3216613 single base substitution C T upstream_gene_variant ESAD-UK 3 3218091 3218091 single base substitution C T intron_variant ESAD-UK 3 3218091 3218091 single base substitution C T upstream_gene_variant ESAD-UK 3 3218973 3218973 single base substitution C T intron_variant ESAD-UK 3 3218973 3218973 single base substitution C T upstream_gene_variant ESAD-UK 3 3219516 3219516 single base substitution C T intron_variant ESAD-UK 3 3219516 3219516 single base substitution C T upstream_gene_variant ESAD-UK 3 3220505 3220505 single base substitution T C intron_variant ESAD-UK 3 3220505 3220505 single base substitution T C upstream_gene_variant ESAD-UK 3 3220570 3220570 insertion of <=200bp - C intron_variant ESAD-UK 3 3220570 3220570 insertion of <=200bp - C upstream_gene_variant ESAD-UK 3 3220572 3220572 single base substitution T C intron_variant ESAD-UK 3 3220572 3220572 single base substitution T C upstream_gene_variant ESAD-UK 3 3223243 3223243 single base substitution T C upstream_gene_variant ESAD-UK 3 3223574 3223574 single base substitution G T upstream_gene_variant ESAD-UK 3 3224660 3224660 deletion of <=200bp C - upstream_gene_variant ESAD-UK 3 3225185 3225185 single base substitution A C upstream_gene_variant KIRP-US 3 3189651 3189651 single base substitution G C downstream_gene_variant KIRP-US 3 3209360 3209360 single base substitution T C downstream_gene_variant KIRP-US 3 3209360 3209360 single base substitution T C exon_variant KIRP-US 3 3209360 3209360 single base substitution T C synonymous_variant R210R 630A>G KIRP-US 3 3209360 3209360 single base substitution T C synonymous_variant R214R 642A>G KIRP-US 3 3209360 3209360 single base substitution T C synonymous_variant R215R 645A>G KIRP-US 3 3209472 3209472 single base substitution T G downstream_gene_variant KIRP-US 3 3209472 3209472 single base substitution T G exon_variant KIRP-US 3 3209472 3209472 single base substitution T G missense_variant Q173P 518A>C KIRP-US 3 3209472 3209472 single base substitution T G missense_variant Q177P 530A>C KIRP-US 3 3209472 3209472 single base substitution T G missense_variant Q178P 533A>C LICA-FR 3 3186281 3186284 deletion of <=200bp TTTA - downstream_gene_variant LICA-FR 3 3193835 3193835 insertion of <=200bp - TT downstream_gene_variant LICA-FR 3 3193835 3193835 insertion of <=200bp - TT intron_variant LICA-FR 3 3209000 3209000 single base substitution T C downstream_gene_variant LICA-FR 3 3209000 3209000 single base substitution T C intron_variant LIHC-US 3 3186326 3186329 deletion of <=200bp AGTT - downstream_gene_variant LIHC-US 3 3189269 3189269 single base substitution T C downstream_gene_variant LIHC-US 3 3221334 3221334 single base substitution T C exon_variant LIHC-US 3 3221334 3221334 single base substitution T C missense_variant N13S 38A>G LIHC-US 3 3221334 3221334 single base substitution T C missense_variant N8S 23A>G LIHC-US 3 3221334 3221334 single base substitution T C upstream_gene_variant LINC-JP 3 3186312 3186312 single base substitution T G downstream_gene_variant LINC-JP 3 3186329 3186329 single base substitution T G downstream_gene_variant LINC-JP 3 3187843 3187843 single base substitution G C downstream_gene_variant LINC-JP 3 3189855 3189861 deletion of <=200bp AAAGCAG - downstream_gene_variant LINC-JP 3 3191139 3191139 single base substitution G A downstream_gene_variant LINC-JP 3 3191139 3191139 single base substitution G A exon_variant LINC-JP 3 3210438 3210455 deletion of <=200bp TTAGAAAGTATCTAAGTT - downstream_gene_variant LINC-JP 3 3210438 3210455 deletion of <=200bp TTAGAAAGTATCTAAGTT - intron_variant LINC-JP 3 3212771 3212771 single base substitution G C downstream_gene_variant LINC-JP 3 3212771 3212771 single base substitution G C intron_variant LINC-JP 3 3215475 3215475 single base substitution T A downstream_gene_variant LINC-JP 3 3215475 3215475 single base substitution T A intron_variant LINC-JP 3 3215475 3215475 single base substitution T A upstream_gene_variant LINC-JP 3 3215795 3215795 single base substitution T C exon_variant LINC-JP 3 3215795 3215795 single base substitution T C missense_variant M104V 310A>G LINC-JP 3 3215795 3215795 single base substitution T C missense_variant M108V 322A>G LINC-JP 3 3215795 3215795 single base substitution T C missense_variant M109V 325A>G LINC-JP 3 3215795 3215795 single base substitution T C upstream_gene_variant LINC-JP 3 3215949 3215949 single base substitution T C intron_variant LINC-JP 3 3215949 3215949 single base substitution T C splice_region_variant LINC-JP 3 3215949 3215949 single base substitution T C upstream_gene_variant LINC-JP 3 3216705 3216705 single base substitution T C intron_variant LINC-JP 3 3216705 3216705 single base substitution T C upstream_gene_variant LINC-JP 3 3217140 3217140 single base substitution T A intron_variant LINC-JP 3 3217140 3217140 single base substitution T A upstream_gene_variant LINC-JP 3 3217635 3217635 single base substitution T C intron_variant LINC-JP 3 3217635 3217635 single base substitution T C upstream_gene_variant LINC-JP 3 3220734 3220734 single base substitution A G intron_variant LINC-JP 3 3220734 3220734 single base substitution A G upstream_gene_variant LIRI-JP 3 3185947 3185947 single base substitution T G downstream_gene_variant LIRI-JP 3 3185960 3185960 deletion of <=200bp T - downstream_gene_variant LIRI-JP 3 3186116 3186116 single base substitution T G downstream_gene_variant LIRI-JP 3 3186128 3186128 single base substitution T G downstream_gene_variant LIRI-JP 3 3187231 3187231 single base substitution A C downstream_gene_variant LIRI-JP 3 3187276 3187276 single base substitution A C downstream_gene_variant LIRI-JP 3 3187573 3187573 single base substitution A G downstream_gene_variant LIRI-JP 3 3188186 3188186 single base substitution A G downstream_gene_variant LIRI-JP 3 3188314 3188314 insertion of <=200bp - GC downstream_gene_variant LIRI-JP 3 3188596 3188596 single base substitution G A downstream_gene_variant LIRI-JP 3 3189451 3189451 single base substitution T C downstream_gene_variant LIRI-JP 3 3190016 3190021 deletion of <=200bp TCTGGA - downstream_gene_variant LIRI-JP 3 3190382 3190382 single base substitution A T downstream_gene_variant LIRI-JP 3 3190491 3190491 single base substitution T G downstream_gene_variant LIRI-JP 3 3190601 3190601 single base substitution T G downstream_gene_variant LIRI-JP 3 3191003 3191003 single base substitution A G downstream_gene_variant LIRI-JP 3 3191003 3191003 single base substitution A G exon_variant LIRI-JP 3 3198947 3198947 single base substitution A C intron_variant LIRI-JP 3 3198947 3198947 single base substitution A C upstream_gene_variant LIRI-JP 3 3199484 3199484 single base substitution G T intron_variant LIRI-JP 3 3199484 3199484 single base substitution G T upstream_gene_variant LIRI-JP 3 3199729 3199740 deletion of <=200bp TATATTTGAGAC - intron_variant LIRI-JP 3 3199729 3199740 deletion of <=200bp TATATTTGAGAC - upstream_gene_variant LIRI-JP 3 3199842 3199842 single base substitution C T intron_variant LIRI-JP 3 3199842 3199842 single base substitution C T upstream_gene_variant LIRI-JP 3 3202293 3202293 single base substitution A G intron_variant LIRI-JP 3 3202293 3202293 single base substitution A G upstream_gene_variant LIRI-JP 3 3202305 3202305 single base substitution A C intron_variant LIRI-JP 3 3202305 3202305 single base substitution A C upstream_gene_variant LIRI-JP 3 3205727 3205727 single base substitution T A downstream_gene_variant LIRI-JP 3 3205727 3205727 single base substitution T A intron_variant LIRI-JP 3 3206417 3206417 single base substitution G A downstream_gene_variant LIRI-JP 3 3206417 3206417 single base substitution G A intron_variant LIRI-JP 3 3211596 3211597 deletion of <=200bp TG - downstream_gene_variant LIRI-JP 3 3211596 3211597 deletion of <=200bp TG - intron_variant LIRI-JP 3 3211638 3211639 deletion of <=200bp CA - downstream_gene_variant LIRI-JP 3 3211638 3211639 deletion of <=200bp CA - intron_variant LIRI-JP 3 3211751 3211751 single base substitution C A downstream_gene_variant LIRI-JP 3 3211751 3211751 single base substitution C A intron_variant LIRI-JP 3 3213687 3213687 single base substitution A G downstream_gene_variant LIRI-JP 3 3213687 3213687 single base substitution A G intron_variant LIRI-JP 3 3214011 3214011 single base substitution T C downstream_gene_variant LIRI-JP 3 3214011 3214011 single base substitution T C exon_variant LIRI-JP 3 3214011 3214011 single base substitution T C intron_variant LIRI-JP 3 3215434 3215434 single base substitution T C downstream_gene_variant LIRI-JP 3 3215434 3215434 single base substitution T C intron_variant LIRI-JP 3 3215434 3215434 single base substitution T C upstream_gene_variant LIRI-JP 3 3218243 3218243 single base substitution A G intron_variant LIRI-JP 3 3218243 3218243 single base substitution A G upstream_gene_variant LIRI-JP 3 3218354 3218354 single base substitution A C intron_variant LIRI-JP 3 3218354 3218354 single base substitution A C upstream_gene_variant LIRI-JP 3 3219005 3219005 single base substitution C T intron_variant LIRI-JP 3 3219005 3219005 single base substitution C T upstream_gene_variant LIRI-JP 3 3219120 3219120 single base substitution T C intron_variant LIRI-JP 3 3219120 3219120 single base substitution T C upstream_gene_variant LIRI-JP 3 3219610 3219610 single base substitution G A intron_variant LIRI-JP 3 3219610 3219610 single base substitution G A upstream_gene_variant LIRI-JP 3 3220755 3220755 single base substitution G A intron_variant LIRI-JP 3 3220755 3220755 single base substitution G A upstream_gene_variant LIRI-JP 3 3221589 3221589 single base substitution C A upstream_gene_variant LIRI-JP 3 3224049 3224049 single base substitution A G upstream_gene_variant LIRI-JP 3 3226251 3226251 single base substitution G A upstream_gene_variant LUSC-KR 3 3186442 3186442 single base substitution G C downstream_gene_variant LUSC-KR 3 3187210 3187210 single base substitution A T downstream_gene_variant LUSC-KR 3 3189432 3189432 single base substitution G A downstream_gene_variant LUSC-KR 3 3195798 3195798 single base substitution C G downstream_gene_variant LUSC-KR 3 3195798 3195798 single base substitution C G exon_variant LUSC-KR 3 3195798 3195798 single base substitution C G intron_variant LUSC-KR 3 3197576 3197576 single base substitution G C downstream_gene_variant LUSC-KR 3 3197576 3197576 single base substitution G C exon_variant LUSC-KR 3 3197576 3197576 single base substitution G C intron_variant LUSC-KR 3 3197576 3197576 single base substitution G C upstream_gene_variant LUSC-KR 3 3198201 3198201 single base substitution C T exon_variant LUSC-KR 3 3198201 3198201 single base substitution C T intron_variant LUSC-KR 3 3198201 3198201 single base substitution C T upstream_gene_variant LUSC-KR 3 3214300 3214300 single base substitution C A downstream_gene_variant LUSC-KR 3 3214300 3214300 single base substitution C A exon_variant LUSC-KR 3 3214300 3214300 single base substitution C A intron_variant LUSC-KR 3 3215933 3215933 single base substitution C G exon_variant LUSC-KR 3 3215933 3215933 single base substitution C G missense_variant D58H 172G>C LUSC-KR 3 3215933 3215933 single base substitution C G missense_variant D62H 184G>C LUSC-KR 3 3215933 3215933 single base substitution C G missense_variant D63H 187G>C LUSC-KR 3 3215933 3215933 single base substitution C G upstream_gene_variant LUSC-KR 3 3220063 3220063 single base substitution T C intron_variant LUSC-KR 3 3220063 3220063 single base substitution T C upstream_gene_variant LUSC-KR 3 3221529 3221529 single base substitution A G upstream_gene_variant LUSC-KR 3 3222853 3222853 single base substitution C A upstream_gene_variant LUSC-KR 3 3226394 3226394 single base substitution C T upstream_gene_variant MALY-DE 3 3186252 3186252 single base substitution C T downstream_gene_variant MALY-DE 3 3191411 3191411 single base substitution T C downstream_gene_variant MALY-DE 3 3191411 3191411 single base substitution T C exon_variant MALY-DE 3 3191575 3191575 single base substitution A G downstream_gene_variant MALY-DE 3 3191575 3191575 single base substitution A G exon_variant MALY-DE 3 3192934 3192934 single base substitution C T downstream_gene_variant MALY-DE 3 3192934 3192934 single base substitution C T intron_variant MALY-DE 3 3196579 3196579 single base substitution T G downstream_gene_variant MALY-DE 3 3196579 3196579 single base substitution T G exon_variant MALY-DE 3 3196579 3196579 single base substitution T G intron_variant MALY-DE 3 3196579 3196579 single base substitution T G upstream_gene_variant MALY-DE 3 3198771 3198771 single base substitution T C intron_variant MALY-DE 3 3198771 3198771 single base substitution T C upstream_gene_variant MALY-DE 3 3202092 3202094 deletion of <=200bp CTT - intron_variant MALY-DE 3 3202092 3202094 deletion of <=200bp CTT - upstream_gene_variant MALY-DE 3 3212921 3212921 single base substitution T C downstream_gene_variant MALY-DE 3 3212921 3212921 single base substitution T C intron_variant MELA-AU 3 3186658 3186658 single base substitution T C downstream_gene_variant MELA-AU 3 3187346 3187346 single base substitution A G downstream_gene_variant MELA-AU 3 3187572 3187572 single base substitution C T downstream_gene_variant MELA-AU 3 3189039 3189039 single base substitution A T downstream_gene_variant MELA-AU 3 3189827 3189827 single base substitution A T downstream_gene_variant MELA-AU 3 3190641 3190641 single base substitution A G downstream_gene_variant MELA-AU 3 3190865 3190865 single base substitution G A downstream_gene_variant MELA-AU 3 3190865 3190865 single base substitution G A exon_variant MELA-AU 3 3191056 3191056 single base substitution C A downstream_gene_variant MELA-AU 3 3191056 3191056 single base substitution C A exon_variant MELA-AU 3 3195631 3195631 single base substitution T A downstream_gene_variant MELA-AU 3 3195631 3195631 single base substitution T A exon_variant MELA-AU 3 3195631 3195631 single base substitution T A intron_variant MELA-AU 3 3195636 3195636 single base substitution T A downstream_gene_variant MELA-AU 3 3195636 3195636 single base substitution T A exon_variant MELA-AU 3 3195636 3195636 single base substitution T A intron_variant MELA-AU 3 3195636 3195636 single base substitution T A splice_region_variant MELA-AU 3 3195729 3195729 single base substitution G A downstream_gene_variant MELA-AU 3 3195729 3195729 single base substitution G A exon_variant MELA-AU 3 3195729 3195729 single base substitution G A missense_variant P284L 851C>T MELA-AU 3 3195729 3195729 single base substitution G A missense_variant P288L 863C>T MELA-AU 3 3195729 3195729 single base substitution G A missense_variant P289L 866C>T MELA-AU 3 3196294 3196294 single base substitution G A downstream_gene_variant MELA-AU 3 3196294 3196294 single base substitution G A exon_variant MELA-AU 3 3196294 3196294 single base substitution G A intron_variant MELA-AU 3 3196294 3196294 single base substitution G A upstream_gene_variant MELA-AU 3 3196296 3196296 single base substitution A T downstream_gene_variant MELA-AU 3 3196296 3196296 single base substitution A T exon_variant MELA-AU 3 3196296 3196296 single base substitution A T intron_variant MELA-AU 3 3196296 3196296 single base substitution A T upstream_gene_variant MELA-AU 3 3196300 3196300 single base substitution T C downstream_gene_variant MELA-AU 3 3196300 3196300 single base substitution T C exon_variant MELA-AU 3 3196300 3196300 single base substitution T C intron_variant MELA-AU 3 3196300 3196300 single base substitution T C upstream_gene_variant MELA-AU 3 3198514 3198514 single base substitution T C intron_variant MELA-AU 3 3198514 3198514 single base substitution T C upstream_gene_variant MELA-AU 3 3200401 3200401 single base substitution G A intron_variant MELA-AU 3 3200401 3200401 single base substitution G A upstream_gene_variant MELA-AU 3 3200403 3200403 single base substitution A C intron_variant MELA-AU 3 3200403 3200403 single base substitution A C upstream_gene_variant MELA-AU 3 3202613 3202613 single base substitution G A intron_variant MELA-AU 3 3202613 3202613 single base substitution G A upstream_gene_variant MELA-AU 3 3203136 3203136 single base substitution C T intron_variant MELA-AU 3 3203136 3203136 single base substitution C T upstream_gene_variant MELA-AU 3 3203554 3203554 single base substitution A G intron_variant MELA-AU 3 3205026 3205026 single base substitution A G downstream_gene_variant MELA-AU 3 3205026 3205026 single base substitution A G intron_variant MELA-AU 3 3205843 3205843 single base substitution G A downstream_gene_variant MELA-AU 3 3205843 3205843 single base substitution G A intron_variant MELA-AU 3 3206232 3206232 single base substitution G A downstream_gene_variant MELA-AU 3 3206232 3206232 single base substitution G A intron_variant MELA-AU 3 3206484 3206484 single base substitution G T downstream_gene_variant MELA-AU 3 3206484 3206484 single base substitution G T intron_variant MELA-AU 3 3207289 3207289 deletion of <=200bp T - downstream_gene_variant MELA-AU 3 3207289 3207289 deletion of <=200bp T - intron_variant MELA-AU 3 3208537 3208537 deletion of <=200bp A - downstream_gene_variant MELA-AU 3 3208537 3208537 deletion of <=200bp A - intron_variant MELA-AU 3 3208898 3208898 single base substitution G A downstream_gene_variant MELA-AU 3 3208898 3208898 single base substitution G A intron_variant MELA-AU 3 3209010 3209010 single base substitution G A downstream_gene_variant MELA-AU 3 3209010 3209010 single base substitution G A intron_variant MELA-AU 3 3209323 3209324 multiple base substitution (>=2bp and <=200bp) GG TA downstream_gene_variant MELA-AU 3 3209323 3209324 multiple base substitution (>=2bp and <=200bp) GG TA exon_variant MELA-AU 3 3209323 3209324 multiple base substitution (>=2bp and <=200bp) GG TA missense_variant YQ222YK MELA-AU 3 3209323 3209324 multiple base substitution (>=2bp and <=200bp) GG TA missense_variant YQ226YK MELA-AU 3 3209323 3209324 multiple base substitution (>=2bp and <=200bp) GG TA missense_variant YQ227YK MELA-AU 3 3209453 3209453 single base substitution A C downstream_gene_variant MELA-AU 3 3209453 3209453 single base substitution A C exon_variant MELA-AU 3 3209453 3209453 single base substitution A C missense_variant I179M 537T>G MELA-AU 3 3209453 3209453 single base substitution A C missense_variant I183M 549T>G MELA-AU 3 3209453 3209453 single base substitution A C missense_variant I184M 552T>G MELA-AU 3 3212258 3212258 single base substitution G A downstream_gene_variant MELA-AU 3 3212258 3212258 single base substitution G A intron_variant MELA-AU 3 3212512 3212512 single base substitution G A downstream_gene_variant MELA-AU 3 3212512 3212512 single base substitution G A intron_variant MELA-AU 3 3213140 3213140 single base substitution C T downstream_gene_variant MELA-AU 3 3213140 3213140 single base substitution C T intron_variant MELA-AU 3 3214125 3214125 single base substitution C A downstream_gene_variant MELA-AU 3 3214125 3214125 single base substitution C A exon_variant MELA-AU 3 3214125 3214125 single base substitution C A intron_variant MELA-AU 3 3214618 3214618 single base substitution A C downstream_gene_variant MELA-AU 3 3214618 3214618 single base substitution A C intron_variant MELA-AU 3 3214618 3214618 single base substitution A C upstream_gene_variant MELA-AU 3 3214993 3214993 single base substitution C T downstream_gene_variant MELA-AU 3 3214993 3214993 single base substitution C T intron_variant MELA-AU 3 3214993 3214993 single base substitution C T upstream_gene_variant MELA-AU 3 3215367 3215367 single base substitution G A downstream_gene_variant MELA-AU 3 3215367 3215367 single base substitution G A intron_variant MELA-AU 3 3215367 3215367 single base substitution G A upstream_gene_variant MELA-AU 3 3215699 3215699 single base substitution C T exon_variant MELA-AU 3 3215699 3215699 single base substitution C T intron_variant MELA-AU 3 3215699 3215699 single base substitution C T upstream_gene_variant MELA-AU 3 3215842 3215842 single base substitution G A exon_variant MELA-AU 3 3215842 3215842 single base substitution G A missense_variant P88L 263C>T MELA-AU 3 3215842 3215842 single base substitution G A missense_variant P92L 275C>T MELA-AU 3 3215842 3215842 single base substitution G A missense_variant P93L 278C>T MELA-AU 3 3215842 3215842 single base substitution G A upstream_gene_variant MELA-AU 3 3216069 3216069 single base substitution A C intron_variant MELA-AU 3 3216069 3216069 single base substitution A C upstream_gene_variant MELA-AU 3 3216981 3216981 single base substitution A C intron_variant MELA-AU 3 3216981 3216981 single base substitution A C upstream_gene_variant MELA-AU 3 3217692 3217692 single base substitution G A intron_variant MELA-AU 3 3217692 3217692 single base substitution G A upstream_gene_variant MELA-AU 3 3217908 3217908 single base substitution A T intron_variant MELA-AU 3 3217908 3217908 single base substitution A T upstream_gene_variant MELA-AU 3 3218927 3218927 single base substitution C T intron_variant MELA-AU 3 3218927 3218927 single base substitution C T upstream_gene_variant MELA-AU 3 3218944 3218944 single base substitution G A intron_variant MELA-AU 3 3218944 3218944 single base substitution G A upstream_gene_variant MELA-AU 3 3220138 3220138 single base substitution A G intron_variant MELA-AU 3 3220138 3220138 single base substitution A G upstream_gene_variant MELA-AU 3 3220195 3220196 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 3 3220195 3220196 multiple base substitution (>=2bp and <=200bp) GG CA upstream_gene_variant MELA-AU 3 3220313 3220313 single base substitution A G intron_variant MELA-AU 3 3220313 3220313 single base substitution A G upstream_gene_variant MELA-AU 3 3220503 3220503 single base substitution G A intron_variant MELA-AU 3 3220503 3220503 single base substitution G A upstream_gene_variant MELA-AU 3 3220968 3220968 single base substitution A G intron_variant MELA-AU 3 3220968 3220968 single base substitution A G upstream_gene_variant MELA-AU 3 3221037 3221037 single base substitution A C intron_variant MELA-AU 3 3221037 3221037 single base substitution A C upstream_gene_variant MELA-AU 3 3221425 3221425 single base substitution G A upstream_gene_variant MELA-AU 3 3221432 3221432 single base substitution C T upstream_gene_variant MELA-AU 3 3221454 3221454 single base substitution C T upstream_gene_variant MELA-AU 3 3221469 3221469 single base substitution C T upstream_gene_variant MELA-AU 3 3221644 3221645 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 3221804 3221804 single base substitution G A upstream_gene_variant MELA-AU 3 3222319 3222319 single base substitution G A upstream_gene_variant MELA-AU 3 3222625 3222625 single base substitution G A upstream_gene_variant MELA-AU 3 3222635 3222635 single base substitution G A upstream_gene_variant MELA-AU 3 3222837 3222837 single base substitution C T upstream_gene_variant MELA-AU 3 3223087 3223087 single base substitution C T upstream_gene_variant MELA-AU 3 3223275 3223275 single base substitution T C upstream_gene_variant MELA-AU 3 3223291 3223291 single base substitution G A upstream_gene_variant MELA-AU 3 3223424 3223424 single base substitution G A upstream_gene_variant MELA-AU 3 3223429 3223429 single base substitution G A upstream_gene_variant MELA-AU 3 3223899 3223899 single base substitution A C upstream_gene_variant MELA-AU 3 3224045 3224045 single base substitution T G upstream_gene_variant MELA-AU 3 3224116 3224116 single base substitution C T upstream_gene_variant MELA-AU 3 3224122 3224122 single base substitution G A upstream_gene_variant MELA-AU 3 3224315 3224315 single base substitution G A upstream_gene_variant MELA-AU 3 3224328 3224328 single base substitution C T upstream_gene_variant MELA-AU 3 3224349 3224349 single base substitution C A upstream_gene_variant MELA-AU 3 3224438 3224438 single base substitution T G upstream_gene_variant MELA-AU 3 3224443 3224443 single base substitution G A upstream_gene_variant MELA-AU 3 3224482 3224482 single base substitution C T upstream_gene_variant MELA-AU 3 3224554 3224554 single base substitution A G upstream_gene_variant MELA-AU 3 3224631 3224631 single base substitution G A upstream_gene_variant MELA-AU 3 3224790 3224790 single base substitution C T upstream_gene_variant MELA-AU 3 3224818 3224818 single base substitution C T upstream_gene_variant MELA-AU 3 3224823 3224823 single base substitution C T upstream_gene_variant MELA-AU 3 3224902 3224902 single base substitution G A upstream_gene_variant MELA-AU 3 3225038 3225038 single base substitution C T upstream_gene_variant MELA-AU 3 3225283 3225283 single base substitution C T upstream_gene_variant MELA-AU 3 3225395 3225395 single base substitution C T upstream_gene_variant MELA-AU 3 3225411 3225411 single base substitution T A upstream_gene_variant MELA-AU 3 3225449 3225449 single base substitution G A upstream_gene_variant MELA-AU 3 3225808 3225808 single base substitution C T upstream_gene_variant MELA-AU 3 3225852 3225852 single base substitution C T upstream_gene_variant MELA-AU 3 3225941 3225941 single base substitution C T upstream_gene_variant MELA-AU 3 3226158 3226158 single base substitution A G upstream_gene_variant MELA-AU 3 3226187 3226187 single base substitution G A upstream_gene_variant MELA-AU 3 3226223 3226223 single base substitution C T upstream_gene_variant MELA-AU 3 3226226 3226226 single base substitution G A upstream_gene_variant MELA-AU 3 3226351 3226351 single base substitution T C upstream_gene_variant ORCA-IN 3 3187695 3187695 single base substitution G C downstream_gene_variant ORCA-IN 3 3192682 3192682 single base substitution C A downstream_gene_variant ORCA-IN 3 3192682 3192682 single base substitution C A exon_variant ORCA-IN 3 3192682 3192682 single base substitution C A missense_variant G350V 1049G>T ORCA-IN 3 3192682 3192682 single base substitution C A missense_variant G398V 1193G>T ORCA-IN 3 3192682 3192682 single base substitution C A missense_variant G399V 1196G>T ORCA-IN 3 3208995 3208995 single base substitution G A downstream_gene_variant ORCA-IN 3 3208995 3208995 single base substitution G A intron_variant ORCA-IN 3 3225672 3225672 single base substitution G T upstream_gene_variant OV-AU 3 3193390 3193390 single base substitution C G downstream_gene_variant OV-AU 3 3193390 3193390 single base substitution C G intron_variant OV-AU 3 3208890 3208890 single base substitution T C downstream_gene_variant OV-AU 3 3208890 3208890 single base substitution T C intron_variant OV-AU 3 3210643 3210643 single base substitution C A downstream_gene_variant OV-AU 3 3210643 3210643 single base substitution C A intron_variant OV-AU 3 3211640 3211640 single base substitution C T downstream_gene_variant OV-AU 3 3211640 3211640 single base substitution C T intron_variant OV-AU 3 3212071 3212071 single base substitution T C downstream_gene_variant OV-AU 3 3212071 3212071 single base substitution T C intron_variant OV-AU 3 3215942 3215942 single base substitution G A exon_variant OV-AU 3 3215942 3215942 single base substitution G A synonymous_variant L55L 163C>T OV-AU 3 3215942 3215942 single base substitution G A synonymous_variant L59L 175C>T OV-AU 3 3215942 3215942 single base substitution G A synonymous_variant L60L 178C>T OV-AU 3 3215942 3215942 single base substitution G A upstream_gene_variant OV-AU 3 3216749 3216749 single base substitution A G intron_variant OV-AU 3 3216749 3216749 single base substitution A G upstream_gene_variant OV-AU 3 3222587 3222587 single base substitution G T upstream_gene_variant OV-AU 3 3222856 3222856 single base substitution G A upstream_gene_variant OV-AU 3 3225064 3225064 single base substitution A G upstream_gene_variant OV-AU 3 3225318 3225318 single base substitution T C upstream_gene_variant OV-US 3 3215765 3215765 single base substitution T C exon_variant OV-US 3 3215765 3215765 single base substitution T C missense_variant T114A 340A>G OV-US 3 3215765 3215765 single base substitution T C missense_variant T118A 352A>G OV-US 3 3215765 3215765 single base substitution T C missense_variant T119A 355A>G OV-US 3 3215765 3215765 single base substitution T C upstream_gene_variant PACA-AU 3 3189904 3189904 single base substitution G T downstream_gene_variant PACA-AU 3 3189951 3189951 single base substitution T A downstream_gene_variant PACA-AU 3 3190615 3190617 deletion of <=200bp TTA - downstream_gene_variant PACA-AU 3 3191962 3191962 deletion of <=200bp A - 3_prime_UTR_variant PACA-AU 3 3191962 3191962 deletion of <=200bp A - downstream_gene_variant PACA-AU 3 3191962 3191962 deletion of <=200bp A - exon_variant PACA-AU 3 3203610 3203610 single base substitution G A intron_variant PACA-AU 3 3207400 3207400 single base substitution C A downstream_gene_variant PACA-AU 3 3207400 3207400 single base substitution C A intron_variant PACA-AU 3 3207924 3207924 single base substitution G A downstream_gene_variant PACA-AU 3 3207924 3207924 single base substitution G A intron_variant PACA-AU 3 3214631 3214631 single base substitution G C downstream_gene_variant PACA-AU 3 3214631 3214631 single base substitution G C intron_variant PACA-AU 3 3214631 3214631 single base substitution G C upstream_gene_variant PACA-AU 3 3215446 3215446 single base substitution T A downstream_gene_variant PACA-AU 3 3215446 3215446 single base substitution T A intron_variant PACA-AU 3 3215446 3215446 single base substitution T A upstream_gene_variant PACA-AU 3 3219887 3219887 single base substitution A T intron_variant PACA-AU 3 3219887 3219887 single base substitution A T upstream_gene_variant PACA-AU 3 3220355 3220355 single base substitution G T intron_variant PACA-AU 3 3220355 3220355 single base substitution G T upstream_gene_variant PACA-AU 3 3220572 3220572 single base substitution T C intron_variant PACA-AU 3 3220572 3220572 single base substitution T C upstream_gene_variant PACA-AU 3 3222650 3222656 deletion of <=200bp TTGAAGG - upstream_gene_variant PACA-AU 3 3223114 3223114 single base substitution C T upstream_gene_variant PACA-AU 3 3224364 3224364 single base substitution G C upstream_gene_variant PACA-AU 3 3225405 3225405 single base substitution A G upstream_gene_variant PACA-CA 3 3185713 3185713 single base substitution C A downstream_gene_variant PACA-CA 3 3187265 3187265 single base substitution A G downstream_gene_variant PACA-CA 3 3188339 3188339 single base substitution T C downstream_gene_variant PACA-CA 3 3189942 3189942 single base substitution G T downstream_gene_variant PACA-CA 3 3197090 3197090 single base substitution T C downstream_gene_variant PACA-CA 3 3197090 3197090 single base substitution T C exon_variant PACA-CA 3 3197090 3197090 single base substitution T C intron_variant PACA-CA 3 3197090 3197090 single base substitution T C upstream_gene_variant PACA-CA 3 3199235 3199235 single base substitution C T intron_variant PACA-CA 3 3199235 3199235 single base substitution C T upstream_gene_variant PACA-CA 3 3202810 3202810 insertion of <=200bp - A intron_variant PACA-CA 3 3202810 3202810 insertion of <=200bp - A upstream_gene_variant PACA-CA 3 3203669 3203669 single base substitution G T intron_variant PACA-CA 3 3209293 3209293 single base substitution G A 3_prime_UTR_variant PACA-CA 3 3209293 3209293 single base substitution G A downstream_gene_variant PACA-CA 3 3209293 3209293 single base substitution G A intron_variant PACA-CA 3 3210264 3210264 single base substitution G T downstream_gene_variant PACA-CA 3 3210264 3210264 single base substitution G T intron_variant PACA-CA 3 3212606 3212606 single base substitution C T downstream_gene_variant PACA-CA 3 3212606 3212606 single base substitution C T intron_variant PACA-CA 3 3215307 3215307 single base substitution G T downstream_gene_variant PACA-CA 3 3215307 3215307 single base substitution G T intron_variant PACA-CA 3 3215307 3215307 single base substitution G T upstream_gene_variant PACA-CA 3 3215654 3215654 single base substitution G A exon_variant PACA-CA 3 3215654 3215654 single base substitution G A intron_variant PACA-CA 3 3215654 3215654 single base substitution G A upstream_gene_variant PACA-CA 3 3216133 3216133 single base substitution T C intron_variant PACA-CA 3 3216133 3216133 single base substitution T C upstream_gene_variant PACA-CA 3 3217307 3217307 insertion of <=200bp - T intron_variant PACA-CA 3 3217307 3217307 insertion of <=200bp - T upstream_gene_variant PACA-CA 3 3217932 3217932 single base substitution G T intron_variant PACA-CA 3 3217932 3217932 single base substitution G T upstream_gene_variant PACA-CA 3 3217998 3217998 single base substitution C A intron_variant PACA-CA 3 3217998 3217998 single base substitution C A upstream_gene_variant PACA-CA 3 3219703 3219703 insertion of <=200bp - AC intron_variant PACA-CA 3 3219703 3219703 insertion of <=200bp - AC upstream_gene_variant PACA-CA 3 3224214 3224214 single base substitution A G upstream_gene_variant PACA-CA 3 3224877 3224877 single base substitution G A upstream_gene_variant PACA-CA 3 3225842 3225842 single base substitution C T upstream_gene_variant PAEN-AU 3 3187726 3187726 single base substitution C A downstream_gene_variant PAEN-AU 3 3220134 3220134 single base substitution A C intron_variant PAEN-AU 3 3220134 3220134 single base substitution A C upstream_gene_variant PBCA-DE 3 3206358 3206358 single base substitution G T downstream_gene_variant PBCA-DE 3 3206358 3206358 single base substitution G T intron_variant PBCA-DE 3 3213736 3213736 insertion of <=200bp - T downstream_gene_variant PBCA-DE 3 3213736 3213736 insertion of <=200bp - T intron_variant PBCA-DE 3 3226262 3226262 single base substitution A T upstream_gene_variant PRAD-UK 3 3189267 3189267 single base substitution G A downstream_gene_variant PRAD-UK 3 3200896 3200896 single base substitution G A intron_variant PRAD-UK 3 3200896 3200896 single base substitution G A upstream_gene_variant PRAD-UK 3 3210292 3210292 single base substitution C T downstream_gene_variant PRAD-UK 3 3210292 3210292 single base substitution C T intron_variant PRAD-UK 3 3214067 3214067 single base substitution C T downstream_gene_variant PRAD-UK 3 3214067 3214067 single base substitution C T exon_variant PRAD-UK 3 3214067 3214067 single base substitution C T intron_variant PRAD-UK 3 3218357 3218357 single base substitution T C intron_variant PRAD-UK 3 3218357 3218357 single base substitution T C upstream_gene_variant READ-US 3 3189192 3189192 deletion of <=200bp T - downstream_gene_variant READ-US 3 3195711 3195711 single base substitution C A downstream_gene_variant READ-US 3 3195711 3195711 single base substitution C A exon_variant READ-US 3 3195711 3195711 single base substitution C A missense_variant R290I 869G>T READ-US 3 3195711 3195711 single base substitution C A missense_variant R294I 881G>T READ-US 3 3195711 3195711 single base substitution C A missense_variant R295I 884G>T READ-US 3 3196472 3196472 single base substitution T C downstream_gene_variant READ-US 3 3196472 3196472 single base substitution T C exon_variant READ-US 3 3196472 3196472 single base substitution T C missense_variant D260G 779A>G READ-US 3 3196472 3196472 single base substitution T C missense_variant D264G 791A>G READ-US 3 3196472 3196472 single base substitution T C missense_variant D265G 794A>G READ-US 3 3196472 3196472 single base substitution T C upstream_gene_variant RECA-EU 3 3190358 3190358 single base substitution C T downstream_gene_variant RECA-EU 3 3202670 3202670 single base substitution C G intron_variant RECA-EU 3 3202670 3202670 single base substitution C G upstream_gene_variant RECA-EU 3 3213653 3213653 single base substitution G T downstream_gene_variant RECA-EU 3 3213653 3213653 single base substitution G T intron_variant RECA-EU 3 3226031 3226031 single base substitution T G upstream_gene_variant SKCA-BR 3 3190488 3190488 insertion of <=200bp - TATTA downstream_gene_variant SKCA-BR 3 3193511 3193511 insertion of <=200bp - GCAAACAAA downstream_gene_variant SKCA-BR 3 3193511 3193511 insertion of <=200bp - GCAAACAAA intron_variant SKCA-BR 3 3193843 3193843 insertion of <=200bp - TTTC downstream_gene_variant SKCA-BR 3 3193843 3193843 insertion of <=200bp - TTTC intron_variant SKCA-BR 3 3206096 3206096 single base substitution A C downstream_gene_variant SKCA-BR 3 3206096 3206096 single base substitution A C intron_variant SKCA-BR 3 3206281 3206281 single base substitution C T downstream_gene_variant SKCA-BR 3 3206281 3206281 single base substitution C T intron_variant SKCA-BR 3 3208619 3208619 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 3 3208619 3208619 insertion of <=200bp - TA intron_variant SKCA-BR 3 3208790 3208790 single base substitution G A downstream_gene_variant SKCA-BR 3 3208790 3208790 single base substitution G A intron_variant SKCA-BR 3 3213689 3213689 single base substitution G A downstream_gene_variant SKCA-BR 3 3213689 3213689 single base substitution G A intron_variant SKCA-BR 3 3220477 3220477 single base substitution G T intron_variant SKCA-BR 3 3220477 3220477 single base substitution G T upstream_gene_variant SKCA-BR 3 3220489 3220489 single base substitution T C intron_variant SKCA-BR 3 3220489 3220489 single base substitution T C upstream_gene_variant SKCA-BR 3 3220634 3220634 single base substitution G C intron_variant SKCA-BR 3 3220634 3220634 single base substitution G C upstream_gene_variant SKCA-BR 3 3224291 3224291 single base substitution G A upstream_gene_variant SKCA-BR 3 3224790 3224790 single base substitution C T upstream_gene_variant STAD-US 3 3188145 3188145 single base substitution G A downstream_gene_variant STAD-US 3 3188232 3188232 deletion of <=200bp A - downstream_gene_variant STAD-US 3 3189371 3189371 single base substitution A G downstream_gene_variant STAD-US 3 3189636 3189636 single base substitution A G downstream_gene_variant STAD-US 3 3189779 3189779 deletion of <=200bp A - downstream_gene_variant STAD-US 3 3192623 3192623 single base substitution G A downstream_gene_variant STAD-US 3 3192623 3192623 single base substitution G A exon_variant STAD-US 3 3192623 3192623 single base substitution G A stop_gained R370* 1108C>T STAD-US 3 3192623 3192623 single base substitution G A stop_gained R418* 1252C>T STAD-US 3 3192623 3192623 single base substitution G A stop_gained R419* 1255C>T STAD-US 3 3192625 3192625 single base substitution G A downstream_gene_variant STAD-US 3 3192625 3192625 single base substitution G A exon_variant STAD-US 3 3192625 3192625 single base substitution G A missense_variant T369M 1106C>T STAD-US 3 3192625 3192625 single base substitution G A missense_variant T417M 1250C>T STAD-US 3 3192625 3192625 single base substitution G A missense_variant T418M 1253C>T STAD-US 3 3192649 3192649 single base substitution G A downstream_gene_variant STAD-US 3 3192649 3192649 single base substitution G A exon_variant STAD-US 3 3192649 3192649 single base substitution G A missense_variant S361L 1082C>T STAD-US 3 3192649 3192649 single base substitution G A missense_variant S409L 1226C>T STAD-US 3 3192649 3192649 single base substitution G A missense_variant S410L 1229C>T STAD-US 3 3195744 3195744 single base substitution A G downstream_gene_variant STAD-US 3 3195744 3195744 single base substitution A G exon_variant STAD-US 3 3195744 3195744 single base substitution A G missense_variant V279A 836T>C STAD-US 3 3195744 3195744 single base substitution A G missense_variant V283A 848T>C STAD-US 3 3195744 3195744 single base substitution A G missense_variant V284A 851T>C STAD-US 3 3209403 3209403 single base substitution G A downstream_gene_variant STAD-US 3 3209403 3209403 single base substitution G A exon_variant STAD-US 3 3209403 3209403 single base substitution G A missense_variant S196F 587C>T STAD-US 3 3209403 3209403 single base substitution G A missense_variant S200F 599C>T STAD-US 3 3209403 3209403 single base substitution G A missense_variant S201F 602C>T STAD-US 3 3221317 3221317 single base substitution G A exon_variant STAD-US 3 3221317 3221317 single base substitution G A missense_variant P14S 40C>T STAD-US 3 3221317 3221317 single base substitution G A missense_variant P19S 55C>T STAD-US 3 3221317 3221317 single base substitution G A upstream_gene_variant THCA-SA 3 3189685 3189685 insertion of <=200bp - G downstream_gene_variant THCA-US 3 3189629 3189629 single base substitution C T downstream_gene_variant UCEC-US 3 3186365 3186365 single base substitution G T downstream_gene_variant UCEC-US 3 3188246 3188246 single base substitution T C downstream_gene_variant UCEC-US 3 3188258 3188258 single base substitution A C downstream_gene_variant UCEC-US 3 3188271 3188271 single base substitution C A downstream_gene_variant UCEC-US 3 3189241 3189241 single base substitution G A downstream_gene_variant UCEC-US 3 3189343 3189343 single base substitution G T downstream_gene_variant UCEC-US 3 3189373 3189373 single base substitution G T downstream_gene_variant UCEC-US 3 3189701 3189701 single base substitution G T downstream_gene_variant UCEC-US 3 3189768 3189768 single base substitution G A downstream_gene_variant UCEC-US 3 3192695 3192695 single base substitution C T downstream_gene_variant UCEC-US 3 3192695 3192695 single base substitution C T exon_variant UCEC-US 3 3192695 3192695 single base substitution C T missense_variant A346T 1036G>A UCEC-US 3 3192695 3192695 single base substitution C T missense_variant A394T 1180G>A UCEC-US 3 3192695 3192695 single base substitution C T missense_variant A395T 1183G>A UCEC-US 3 3192700 3192700 single base substitution A G downstream_gene_variant UCEC-US 3 3192700 3192700 single base substitution A G exon_variant UCEC-US 3 3192700 3192700 single base substitution A G missense_variant I344T 1031T>C UCEC-US 3 3192700 3192700 single base substitution A G missense_variant I392T 1175T>C UCEC-US 3 3192700 3192700 single base substitution A G missense_variant I393T 1178T>C UCEC-US 3 3195127 3195127 single base substitution T C downstream_gene_variant UCEC-US 3 3195127 3195127 single base substitution T C exon_variant UCEC-US 3 3195127 3195127 single base substitution T C missense_variant T328A 982A>G UCEC-US 3 3195127 3195127 single base substitution T C missense_variant T332A 994A>G UCEC-US 3 3195127 3195127 single base substitution T C missense_variant T333A 997A>G UCEC-US 3 3196451 3196451 single base substitution G T downstream_gene_variant UCEC-US 3 3196451 3196451 single base substitution G T exon_variant UCEC-US 3 3196451 3196451 single base substitution G T missense_variant S267Y 800C>A UCEC-US 3 3196451 3196451 single base substitution G T missense_variant S271Y 812C>A UCEC-US 3 3196451 3196451 single base substitution G T missense_variant S272Y 815C>A UCEC-US 3 3196451 3196451 single base substitution G T upstream_gene_variant UCEC-US 3 3197908 3197908 single base substitution C T exon_variant UCEC-US 3 3197908 3197908 single base substitution C T missense_variant D244N 730G>A UCEC-US 3 3197908 3197908 single base substitution C T missense_variant D248N 742G>A UCEC-US 3 3197908 3197908 single base substitution C T missense_variant D249N 745G>A UCEC-US 3 3197908 3197908 single base substitution C T upstream_gene_variant UCEC-US 3 3197928 3197928 single base substitution C T exon_variant UCEC-US 3 3197928 3197928 single base substitution C T missense_variant R237H 710G>A UCEC-US 3 3197928 3197928 single base substitution C T missense_variant R241H 722G>A UCEC-US 3 3197928 3197928 single base substitution C T missense_variant R242H 725G>A UCEC-US 3 3197928 3197928 single base substitution C T upstream_gene_variant UCEC-US 3 3209330 3209330 single base substitution C T downstream_gene_variant UCEC-US 3 3209330 3209330 single base substitution C T exon_variant UCEC-US 3 3209330 3209330 single base substitution C T synonymous_variant Q220Q 660G>A UCEC-US 3 3209330 3209330 single base substitution C T synonymous_variant Q224Q 672G>A UCEC-US 3 3209330 3209330 single base substitution C T synonymous_variant Q225Q 675G>A UCEC-US 3 3214475 3214475 single base substitution C A downstream_gene_variant UCEC-US 3 3214475 3214475 single base substitution C A exon_variant UCEC-US 3 3214475 3214475 single base substitution C A missense_variant R166I 497G>T UCEC-US 3 3214475 3214475 single base substitution C A missense_variant R170I 509G>T UCEC-US 3 3214475 3214475 single base substitution C A missense_variant R171I 512G>T UCEC-US 3 3216892 3216892 single base substitution T C exon_variant UCEC-US 3 3216892 3216892 single base substitution T C intron_variant UCEC-US 3 3216892 3216892 single base substitution T C synonymous_variant K38K 114A>G UCEC-US 3 3216892 3216892 single base substitution T C synonymous_variant K42K 126A>G UCEC-US 3 3216892 3216892 single base substitution T C synonymous_variant K43K 129A>G UCEC-US 3 3216892 3216892 single base substitution T C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand S0057 COSM5883813 c.1271C>A p.P424H Substitution - Missense 3:3150923-3150923 - TCGA-LL-A5YO-01 COSM4391610 c.1240T>C p.F414L Substitution - Missense 3:3150954-3150954 - LS411 COSM2984025 c.639C>A p.V213V Substitution - coding silent 3:3167682-3167682 - TCGA-BR-8363-01 COSM4116872 c.851T>C p.V284A Substitution - Missense 3:3154060-3154060 - PTC-54C COSM4157968 c.1184C>A p.A395E Substitution - Missense 3:3151010-3151010 - TCGA-EK-A2RN-01 COSM4823075 c.316G>A p.E106K Substitution - Missense 3:3174120-3174120 - Gp5D COSM2984038 c.151A>G p.T51A Substitution - Missense 3:3175186-3175186 - SC_9021 COSM5559439 c.1110G>C p.L370L Substitution - coding silent 3:3152494-3152494 - SC_9097 COSM5555335 c.1031G>T p.G344V Substitution - Missense 3:3152573-3152573 - TCGA-A6-5661-01 COSM1422379 c.332G>A p.R111Q Substitution - Missense 3:3174104-3174104 - TCGA-E2-A15I-01 COSM3823665 c.50A>C p.H17P Substitution - Missense 3:3179638-3179638 - TCGA-AX-A06H-01 COSM1043611 c.1183G>A p.A395T Substitution - Missense 3:3151011-3151011 - ESCC_60 COSM5632752 c.742T>C p.Y248H Substitution - Missense 3:3156227-3156227 - 1N61-VS-1T61 COSM4977785 c.399A>G p.A133A Substitution - coding silent 3:3172904-3172904 - TCGA-AP-A051-01 COSM1043616 c.725G>A p.R242H Substitution - Missense 3:3156244-3156244 - TCGA-IA-A40X-01 COSM3993027 c.533A>C p.Q178P Substitution - Missense 3:3167788-3167788 - TCGA-BR-6452-01 COSM4116869 c.1255C>T p.R419* Substitution - Nonsense 3:3150939-3150939 - TCGA-BT-A2LB-01 COSM3774911 c.1145C>G p.P382R Substitution - Missense 3:3152459-3152459 - TCGA-AP-A054-01 COSM1043612 c.1178T>C p.I393T Substitution - Missense 3:3151016-3151016 - BD57T COSM1422379 c.332G>A p.R111Q Substitution - Missense 3:3174104-3174104 - HCC132 COSM1617482 c.325A>G p.M109V Substitution - Missense 3:3174111-3174111 - I2L-P19Ta-Tumor-Organoid COSM5354971 c.1239delA p.K413fs*5 Deletion - Frameshift 3:3150955-3150955 - TCGA-BR-8078-01 COSM4116880 c.55C>T p.P19S Substitution - Missense 3:3179633-3179633 - TC32 COSM4584249 c.1115G>T p.G372V Substitution - Missense 3:3152489-3152489 - TCGA-F5-6814-01 COSM3749831 c.794A>G p.D265G Substitution - Missense 3:3154788-3154788 - OSCC-GB_01120111 COSM4884754 c.1196G>T p.G399V Substitution - Missense 3:3150998-3150998 - TCGA-D7-8572-01 COSM4116870 c.1253C>T p.T418M Substitution - Missense 3:3150941-3150941 - ESO-721 COSM1249101 c.802C>A p.L268I Substitution - Missense 3:3154780-3154780 - I2L-P19Ta-Tumor-Biopsy COSM5354971 c.1239delA p.K413fs*5 Deletion - Frameshift 3:3150955-3150955 - K-562 COSM1669926 c.1033C>T p.P345S Substitution - Missense 3:3152571-3152571 - TCGA-AL-7173-01 COSM3993026 c.645A>G p.R215R Substitution - coding silent 3:3167676-3167676 - Gp2D COSM2984038 c.151A>G p.T51A Substitution - Missense 3:3175186-3175186 - TCGA-AX-A05Z-01 COSM1043639 c.675G>A p.Q225Q Substitution - coding silent 3:3167646-3167646 - 7T COSM5575614 c.280G>A p.G94R Substitution - Missense 3:3174156-3174156 - STC246 COSM2983934 c.1118G>A p.R373Q Substitution - Missense 3:3152486-3152486 - SNUH_G76_S1 COSM4417520 c.1209G>A p.T403T Substitution - coding silent 3:3150985-3150985 - TCGA-FV-A4ZP-01 COSM4929467 c.38A>G p.N13S Substitution - Missense 3:3179650-3179650 - PD11752a COSM5792946 c.951+10G>A p.? Unknown 3:3153950-3153950 - TCGA-B0-5710-01 COSM480019 c.503T>C p.L168P Substitution - Missense 3:3172800-3172800 - HN_00190 COSM122352 c.671G>T p.W224L Substitution - Missense 3:3167650-3167650 - TCGA-AP-A0LM-01 COSM1043641 c.129A>G p.K43K Substitution - coding silent 3:3175208-3175208 - RKO COSM2983931 c.1271C>T p.P424L Substitution - Missense 3:3150923-3150923 - TCGA-BR-6452-01 COSM4116871 c.1229C>T p.S410L Substitution - Missense 3:3150965-3150965 - 587284 COSM1202254 c.667T>C p.W223R Substitution - Missense 3:3167654-3167654 - pfg017T COSM1642234 c.846_847delCA p.Y282fs*1 Deletion - Frameshift 3:3154064-3154065 - LS411 COSM2984036 c.206G>A p.G69D Substitution - Missense 3:3174230-3174230 - TCGA-A5-A0GP-01 COSM1043614 c.815C>A p.S272Y Substitution - Missense 3:3154767-3154767 - LC_S25 COSM1186188 c.8G>C p.G3A Substitution - Missense 3:3179680-3179680 - 587222 COSM1043614 c.815C>A p.S272Y Substitution - Missense 3:3154767-3154767 - PT23_2 COSM5903462 c.625C>T p.P209S Substitution - Missense 3:3167696-3167696 - HN_63021 COSM122351 c.1208C>T p.T403M Substitution - Missense 3:3150986-3150986 - TCGA-B5-A0JY-01 COSM1043640 c.512G>T p.R171I Substitution - Missense 3:3172791-3172791 - B85-0-Tumor COSM1753158 c.1218A>C p.K406N Substitution - Missense 3:3150976-3150976 - HCC27 COSM3660482 c.175-4A>G p.? Unknown 3:3174265-3174265 - C608 COSM4442959 c.236A>G p.Q79R Substitution - Missense 3:3174200-3174200 - HX33T COSM3660482 c.175-4A>G p.? Unknown 3:3174265-3174265 - PT49 COSM1692303 c.895C>T p.L299F Substitution - Missense 3:3154016-3154016 - TCGA-BR-4361-01 COSM4116873 c.602C>T p.S201F Substitution - Missense 3:3167719-3167719 - TCGA-23-1118-01 COSM74258 c.355A>G p.T119A Substitution - Missense 3:3174081-3174081 - ESCC_96 COSM5637684 c.435A>T p.R145R Substitution - coding silent 3:3172868-3172868 - TCGA-AP-A0LM-01 COSM1043613 c.997A>G p.T333A Substitution - Missense 3:3153443-3153443 - LAU63 COSM232093 c.394G>A p.E132K Substitution - Missense 3:3172909-3172909 - AOCS-004-1-5 COSM4149847 c.178C>T p.L60L Substitution - coding silent 3:3174258-3174258 - CSCC-20-T COSM2984027 c.559G>A p.E187K Substitution - Missense 3:3167762-3167762 - SS6003117 COSM3414435 c.516A>T p.T172T Substitution - coding silent 3:3172787-3172787 - I2L-P19Ta-Tumor-Organoid COSM5355308 c.479T>A p.I160N Substitution - Missense 3:3172824-3172824 - B85-0 COSM1753158 c.1218A>C p.K406N Substitution - Missense 3:3150976-3150976 - TCGA-F5-6814-01 COSM3427514 c.884G>T p.R295I Substitution - Missense 3:3154027-3154027 - YULLON COSM1692303 c.895C>T p.L299F Substitution - Missense 3:3154016-3154016 - CSCC-35-T COSM4570246 c.248T>C p.V83A Substitution - Missense 3:3174188-3174188 - 399 COSM4429259 c.307C>A p.H103N Substitution - Missense 3:3174129-3174129 - HCC27T COSM3660482 c.175-4A>G p.? Unknown 3:3174265-3174265 - HCC132T COSM1617482 c.325A>G p.M109V Substitution - Missense 3:3174111-3174111 - TCGA-B5-A1MY-01 COSM1043615 c.745G>A p.D249N Substitution - Missense 3:3156224-3156224 - 413LT COSM4382150 c.920G>A p.R307Q Substitution - Missense 3:3153991-3153991 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.18925 3p26.2 609262 878791|dbSNP|BC067811|A/G|non-coding||2118|Candidate; 1515386|dbSNP|BC017419|C/T|coding|His73His|236|Validated; 1515386|dbSNP|BC067811|C/T|coding|His72His|229|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.I393T c.1178T>C 3 3192700 UCEC A G Missense p.L113S c.338T>C 3 3215782 HNSC A T IntronicSNV . c.1149-450T>A 3 3193179 CLL C A Missense p.W224L c.671G>T 3 3209334 HNSC C T IntronicSNV . c.835+127G>A 3 3196304 CM C T Missense p.A395T c.1183G>A 3 3192695 UCEC C T Missense p.D117N c.349G>A 3 3215771 COREAD C T Missense p.D249N c.745G>A 3 3197908 UCEC C T Missense p.M89I c.267G>A 3 3215853 COREAD G A IntronicSNV . c.836-7C>T 3 3195766 CM G A Missense p.T403M c.1208C>T 3 3192670 HNSC G C Missense p.P382R c.1145C>G 3 3194143 BLCA GG AA Missense p.P19L c.55_56delinsTT 3 3221316 CM G T Missense p.L268I c.802C>A 3 3196464 ESCA G T Missense p.S272Y c.815C>A 3 3196451 UCEC T C Missense p.T119A c.355A>G 3 3215765 OV TG - Frameshift p.Y282*fs*1 c.846_847delCA 3 3195748 STAD