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 BRCA 19 9939519 9939519 + Silent SNP G G A TCGA-GM-A3NY-01A-11D-A21Q-09 TCGA-GM-A3NY-10A-01D-A21Q-09 g.chr19:9939519G>A c.147G>A c.(145-147)acG>acA p.T49T GBMLGG 19 9939539 9939539 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:9939539C>A c.167C>A c.(166-168)tCt>tAt p.S56Y LGG 19 9939539 9939539 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:9939539C>A c.167C>A c.(166-168)tCt>tAt p.S56Y LUAD 19 9939267 9939267 + Splice_Site SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 g.chr19:9939267G>A c.e3-1

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 19 9933699 9933699 single base substitution C T upstream_gene_variant BRCA-EU 19 9935934 9935934 single base substitution A T upstream_gene_variant BRCA-EU 19 9936775 9936775 single base substitution G C upstream_gene_variant BRCA-EU 19 9936818 9936818 single base substitution G A upstream_gene_variant BRCA-EU 19 9937144 9937144 single base substitution C T upstream_gene_variant BRCA-EU 19 9938451 9938451 single base substitution G A upstream_gene_variant BRCA-EU 19 9938718 9938718 single base substitution C T 5_prime_UTR_variant BRCA-EU 19 9938718 9938718 single base substitution C T intron_variant BRCA-EU 19 9940004 9940004 single base substitution G A downstream_gene_variant BRCA-EU 19 9940004 9940004 single base substitution G A exon_variant BRCA-EU 19 9940004 9940004 single base substitution G A intron_variant BRCA-EU 19 9940758 9940758 single base substitution G A 3_prime_UTR_variant BRCA-EU 19 9940758 9940758 single base substitution G A downstream_gene_variant BRCA-EU 19 9940758 9940758 single base substitution G A exon_variant BRCA-EU 19 9942263 9942263 single base substitution T A downstream_gene_variant BRCA-EU 19 9943813 9943813 single base substitution A T downstream_gene_variant BRCA-EU 19 9945061 9945061 single base substitution C G downstream_gene_variant BRCA-EU 19 9945131 9945131 single base substitution C T downstream_gene_variant BRCA-EU 19 9945277 9945277 single base substitution C T downstream_gene_variant BRCA-EU 19 9945511 9945511 single base substitution C A downstream_gene_variant BRCA-EU 19 9945527 9945527 single base substitution G T downstream_gene_variant BRCA-FR 19 9938451 9938451 single base substitution G A upstream_gene_variant BRCA-FR 19 9940004 9940004 single base substitution G A downstream_gene_variant BRCA-FR 19 9940004 9940004 single base substitution G A exon_variant BRCA-FR 19 9940004 9940004 single base substitution G A intron_variant BRCA-US 19 9939519 9939519 single base substitution G A downstream_gene_variant BRCA-US 19 9939519 9939519 single base substitution G A exon_variant BRCA-US 19 9939519 9939519 single base substitution G A intron_variant BRCA-US 19 9939519 9939519 single base substitution G A missense_variant R20Q 59G>A BRCA-US 19 9939519 9939519 single base substitution G A synonymous_variant T49T 147G>A ESAD-UK 19 9933817 9933817 single base substitution G A upstream_gene_variant ESAD-UK 19 9933974 9933974 single base substitution A T upstream_gene_variant ESAD-UK 19 9934367 9934367 single base substitution G A upstream_gene_variant ESAD-UK 19 9935172 9935172 single base substitution G A upstream_gene_variant ESAD-UK 19 9936676 9936676 single base substitution T G upstream_gene_variant ESAD-UK 19 9936702 9936702 single base substitution G A upstream_gene_variant ESAD-UK 19 9937252 9937252 single base substitution C T upstream_gene_variant ESAD-UK 19 9937316 9937316 insertion of <=200bp - ATAA upstream_gene_variant ESAD-UK 19 9938577 9938577 single base substitution T G 5_prime_UTR_variant ESAD-UK 19 9938577 9938577 single base substitution T G exon_variant ESAD-UK 19 9938577 9938577 single base substitution T G upstream_gene_variant ESAD-UK 19 9938971 9938971 single base substitution G C intron_variant ESAD-UK 19 9938973 9938973 single base substitution T C intron_variant ESAD-UK 19 9939695 9939695 single base substitution G C downstream_gene_variant ESAD-UK 19 9939695 9939695 single base substitution G C exon_variant ESAD-UK 19 9939695 9939695 single base substitution G C intron_variant ESAD-UK 19 9941744 9941744 single base substitution G A downstream_gene_variant LICA-FR 19 9940173 9940173 deletion of <=200bp T - downstream_gene_variant LICA-FR 19 9940173 9940173 deletion of <=200bp T - exon_variant LICA-FR 19 9940173 9940173 deletion of <=200bp T - intron_variant LINC-JP 19 9939104 9939104 single base substitution C T exon_variant LINC-JP 19 9939104 9939104 single base substitution C T intron_variant LINC-JP 19 9939781 9939781 single base substitution G T downstream_gene_variant LINC-JP 19 9939781 9939781 single base substitution G T exon_variant LINC-JP 19 9939781 9939781 single base substitution G T intron_variant LIRI-JP 19 9936491 9936491 single base substitution T C upstream_gene_variant LIRI-JP 19 9944219 9944219 single base substitution G A downstream_gene_variant LUSC-KR 19 9934370 9934370 single base substitution C T upstream_gene_variant LUSC-KR 19 9935022 9935022 single base substitution G A upstream_gene_variant LUSC-KR 19 9940451 9940451 single base substitution G T downstream_gene_variant LUSC-KR 19 9940451 9940451 single base substitution G T exon_variant LUSC-KR 19 9940451 9940451 single base substitution G T intron_variant MALY-DE 19 9938835 9938835 single base substitution G C intron_variant MALY-DE 19 9942247 9942247 single base substitution T G downstream_gene_variant MELA-AU 19 9933669 9933669 single base substitution G A upstream_gene_variant MELA-AU 19 9933990 9933990 single base substitution G A upstream_gene_variant MELA-AU 19 9935151 9935151 single base substitution G A upstream_gene_variant MELA-AU 19 9935162 9935162 single base substitution G A upstream_gene_variant MELA-AU 19 9935393 9935393 single base substitution G A upstream_gene_variant MELA-AU 19 9936327 9936327 single base substitution G A upstream_gene_variant MELA-AU 19 9938081 9938081 single base substitution G A upstream_gene_variant MELA-AU 19 9938103 9938103 single base substitution G A upstream_gene_variant MELA-AU 19 9938234 9938234 single base substitution G A upstream_gene_variant MELA-AU 19 9938503 9938503 single base substitution G A upstream_gene_variant MELA-AU 19 9938506 9938506 single base substitution G A upstream_gene_variant MELA-AU 19 9938548 9938548 single base substitution G A upstream_gene_variant MELA-AU 19 9938553 9938553 single base substitution C T upstream_gene_variant MELA-AU 19 9938579 9938579 single base substitution C T 5_prime_UTR_variant MELA-AU 19 9938579 9938579 single base substitution C T exon_variant MELA-AU 19 9938579 9938579 single base substitution C T upstream_gene_variant MELA-AU 19 9938579 9938580 multiple base substitution (>=2bp and <=200bp) CC TA 5_prime_UTR_variant MELA-AU 19 9938579 9938580 multiple base substitution (>=2bp and <=200bp) CC TA exon_variant MELA-AU 19 9938579 9938580 multiple base substitution (>=2bp and <=200bp) CC TA upstream_gene_variant MELA-AU 19 9938864 9938864 single base substitution T C intron_variant MELA-AU 19 9938902 9938902 single base substitution A T intron_variant MELA-AU 19 9939188 9939189 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 19 9939188 9939189 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 9940648 9940648 single base substitution C T downstream_gene_variant MELA-AU 19 9940648 9940648 single base substitution C T exon_variant MELA-AU 19 9940648 9940648 single base substitution C T missense_variant S33F 98C>T MELA-AU 19 9940648 9940648 single base substitution C T synonymous_variant I62I 186C>T MELA-AU 19 9940708 9940708 single base substitution C T 3_prime_UTR_variant MELA-AU 19 9940708 9940708 single base substitution C T downstream_gene_variant MELA-AU 19 9940708 9940708 single base substitution C T exon_variant MELA-AU 19 9940918 9940918 single base substitution G C downstream_gene_variant MELA-AU 19 9942556 9942556 single base substitution C T downstream_gene_variant MELA-AU 19 9943583 9943583 single base substitution G A downstream_gene_variant MELA-AU 19 9943624 9943624 single base substitution C T downstream_gene_variant MELA-AU 19 9943668 9943668 single base substitution C T downstream_gene_variant MELA-AU 19 9943817 9943817 single base substitution A T downstream_gene_variant MELA-AU 19 9944396 9944396 single base substitution T C downstream_gene_variant MELA-AU 19 9944704 9944705 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 9945791 9945791 single base substitution G A downstream_gene_variant OV-AU 19 9941176 9941176 single base substitution C T downstream_gene_variant PACA-AU 19 9935021 9935021 single base substitution C T upstream_gene_variant PACA-AU 19 9936275 9936275 single base substitution T A upstream_gene_variant PACA-AU 19 9937348 9937348 single base substitution A T upstream_gene_variant PACA-AU 19 9938189 9938189 single base substitution C T upstream_gene_variant PACA-AU 19 9942263 9942263 single base substitution T A downstream_gene_variant PACA-AU 19 9943156 9943158 deletion of <=200bp GGA - downstream_gene_variant PACA-AU 19 9944805 9944805 single base substitution G A downstream_gene_variant PACA-CA 19 9933588 9933602 deletion of <=200bp AGAACATTTTGAAAA - upstream_gene_variant PACA-CA 19 9933591 9933591 single base substitution A G upstream_gene_variant PACA-CA 19 9934520 9934520 single base substitution G T upstream_gene_variant PACA-CA 19 9936339 9936339 single base substitution G A upstream_gene_variant PACA-CA 19 9937348 9937348 single base substitution A T upstream_gene_variant PACA-CA 19 9938857 9938857 single base substitution C T intron_variant PACA-CA 19 9939283 9939283 single base substitution C T exon_variant PACA-CA 19 9939283 9939283 single base substitution C T intron_variant PACA-CA 19 9939283 9939283 single base substitution C T synonymous_variant I24I 72C>T PACA-CA 19 9939415 9939415 single base substitution C T exon_variant PACA-CA 19 9939415 9939415 single base substitution C T intron_variant PACA-CA 19 9942633 9942633 single base substitution C T downstream_gene_variant PBCA-DE 19 9933782 9933782 single base substitution T C upstream_gene_variant PBCA-DE 19 9935439 9935439 single base substitution C T upstream_gene_variant PBCA-DE 19 9942347 9942347 single base substitution T G downstream_gene_variant PRAD-CA 19 9938423 9938423 single base substitution C T upstream_gene_variant PRAD-CA 19 9939913 9939913 single base substitution G A downstream_gene_variant PRAD-CA 19 9939913 9939913 single base substitution G A exon_variant PRAD-CA 19 9939913 9939913 single base substitution G A intron_variant PRAD-UK 19 9934412 9934412 deletion of <=200bp C - upstream_gene_variant RECA-EU 19 9938338 9938338 single base substitution C T upstream_gene_variant RECA-EU 19 9939222 9939222 single base substitution T C exon_variant RECA-EU 19 9939222 9939222 single base substitution T C intron_variant RECA-EU 19 9939660 9939660 single base substitution G A downstream_gene_variant RECA-EU 19 9939660 9939660 single base substitution G A exon_variant RECA-EU 19 9939660 9939660 single base substitution G A intron_variant SKCA-BR 19 9934456 9934456 single base substitution A G upstream_gene_variant SKCA-BR 19 9937789 9937789 single base substitution T A upstream_gene_variant SKCA-BR 19 9938541 9938541 single base substitution G A upstream_gene_variant SKCA-BR 19 9940159 9940159 single base substitution G A downstream_gene_variant SKCA-BR 19 9940159 9940159 single base substitution G A exon_variant SKCA-BR 19 9940159 9940159 single base substitution G A intron_variant SKCA-BR 19 9943987 9943987 single base substitution G A downstream_gene_variant UCEC-US 19 9939272 9939272 single base substitution G A exon_variant UCEC-US 19 9939272 9939272 single base substitution G A intron_variant UCEC-US 19 9939272 9939272 single base substitution G A missense_variant D21N 61G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-GM-A3NY-01 COSM3836370 c.147G>A p.T49T Substitution - coding silent 19:9828843-9828843 + 587342 COSM1231585 c.89T>C p.L30P Substitution - Missense 19:9828624-9828624 + TCGA-AP-A051-01 COSM1004384 c.61G>A p.D21N Substitution - Missense 19:9828596-9828596 + 435 COSM4433850 c.7G>A p.E3K Substitution - Missense 19:9828344-9828344 + TCGA-CJ-5671-01 COSM475647 c.162C>T p.H54H Substitution - coding silent 19:9828858-9828858 + M021 COSM1740474 c.91A>T p.I31F Substitution - Missense 19:9828626-9828626 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.534473;Hs.534477 19p13.3 606849