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 58902743 58902743 single base substitution G A upstream_gene_variant BRCA-EU 19 58904778 58904778 single base substitution A G upstream_gene_variant BRCA-EU 19 58906888 58906888 single base substitution C G upstream_gene_variant BRCA-EU 19 58907834 58907834 single base substitution G A synonymous_variant L126L 378G>A BRCA-EU 19 58908512 58908512 single base substitution G T downstream_gene_variant BRCA-EU 19 58908880 58908880 single base substitution C T downstream_gene_variant BRCA-UK 19 58906486 58906486 single base substitution G C upstream_gene_variant BRCA-US 19 58904526 58904526 single base substitution G A upstream_gene_variant BRCA-US 19 58904744 58904744 single base substitution G C upstream_gene_variant BRCA-US 19 58904783 58904783 single base substitution A G upstream_gene_variant BTCA-JP 19 58904465 58904465 single base substitution G A upstream_gene_variant BTCA-JP 19 58907817 58907817 single base substitution C G missense_variant R121G 361C>G BTCA-JP 19 58908283 58908283 single base substitution C G missense_variant P276R 827C>G CESC-US 19 58904758 58904758 single base substitution C G upstream_gene_variant CESC-US 19 58906057 58906057 single base substitution G A upstream_gene_variant COAD-US 19 58904396 58904396 single base substitution G A upstream_gene_variant COAD-US 19 58904801 58904801 single base substitution G A upstream_gene_variant COAD-US 19 58906065 58906065 single base substitution A G upstream_gene_variant COAD-US 19 58906084 58906084 single base substitution C T upstream_gene_variant COCA-CN 19 58908237 58908237 single base substitution G A missense_variant A261T 781G>A COCA-CN 19 58908257 58908257 single base substitution G A synonymous_variant T267T 801G>A COCA-CN 19 58908450 58908450 single base substitution C T downstream_gene_variant EOPC-DE 19 58910525 58910525 single base substitution C G downstream_gene_variant ESAD-UK 19 58904813 58904813 single base substitution C T upstream_gene_variant ESAD-UK 19 58907307 58907307 single base substitution C T upstream_gene_variant ESAD-UK 19 58908081 58908081 single base substitution G A missense_variant A209T 625G>A ESAD-UK 19 58910708 58910708 single base substitution G A downstream_gene_variant ESAD-UK 19 58912019 58912019 single base substitution G C downstream_gene_variant ESAD-UK 19 58912086 58912086 single base substitution G A downstream_gene_variant ESAD-UK 19 58912446 58912446 single base substitution A C downstream_gene_variant ESCA-CN 19 58906163 58906163 single base substitution T C upstream_gene_variant GBM-US 19 58904370 58904370 single base substitution G T upstream_gene_variant LAML-KR 19 58904292 58904292 single base substitution C T upstream_gene_variant LAML-KR 19 58906163 58906163 single base substitution T C upstream_gene_variant LGG-US 19 58907569 58907571 deletion of <=200bp AGG - inframe_deletion QE38Q LICA-FR 19 58903179 58903179 single base substitution G A upstream_gene_variant LICA-FR 19 58903511 58903511 single base substitution A G upstream_gene_variant LICA-FR 19 58904401 58904401 single base substitution A G upstream_gene_variant LICA-FR 19 58907098 58907098 single base substitution T G upstream_gene_variant LINC-JP 19 58912287 58912287 single base substitution C T downstream_gene_variant LINC-JP 19 58912579 58912588 deletion of <=200bp CTTCTCTCCT - downstream_gene_variant LIRI-JP 19 58905251 58905253 deletion of <=200bp GTT - upstream_gene_variant LUSC-KR 19 58903364 58903364 single base substitution A G upstream_gene_variant LUSC-KR 19 58904396 58904396 single base substitution G A upstream_gene_variant LUSC-KR 19 58904791 58904791 single base substitution T A upstream_gene_variant LUSC-KR 19 58906247 58906247 single base substitution C A upstream_gene_variant LUSC-KR 19 58907073 58907073 single base substitution G C upstream_gene_variant LUSC-KR 19 58908911 58908911 single base substitution G A downstream_gene_variant LUSC-KR 19 58909677 58909677 single base substitution G T downstream_gene_variant LUSC-KR 19 58912666 58912666 single base substitution C A downstream_gene_variant LUSC-US 19 58906108 58906108 single base substitution C G upstream_gene_variant MALY-DE 19 58912273 58912273 single base substitution G A downstream_gene_variant MELA-AU 19 58902547 58902547 single base substitution C T upstream_gene_variant MELA-AU 19 58902967 58902967 single base substitution C T upstream_gene_variant MELA-AU 19 58903121 58903121 single base substitution C T upstream_gene_variant MELA-AU 19 58903229 58903229 single base substitution G A upstream_gene_variant MELA-AU 19 58904836 58904836 single base substitution C T upstream_gene_variant MELA-AU 19 58904978 58904978 single base substitution A G upstream_gene_variant MELA-AU 19 58904986 58904986 single base substitution C T upstream_gene_variant MELA-AU 19 58904990 58904990 single base substitution A C upstream_gene_variant MELA-AU 19 58905059 58905059 single base substitution C T upstream_gene_variant MELA-AU 19 58906053 58906053 single base substitution C T upstream_gene_variant MELA-AU 19 58906385 58906385 single base substitution C G upstream_gene_variant MELA-AU 19 58906686 58906686 single base substitution T A upstream_gene_variant MELA-AU 19 58907248 58907248 single base substitution C T upstream_gene_variant MELA-AU 19 58907637 58907637 single base substitution C T missense_variant P61S 181C>T MELA-AU 19 58908741 58908741 single base substitution C T downstream_gene_variant MELA-AU 19 58908801 58908801 single base substitution C T downstream_gene_variant MELA-AU 19 58909164 58909164 single base substitution C T downstream_gene_variant MELA-AU 19 58909231 58909231 single base substitution G A downstream_gene_variant MELA-AU 19 58909302 58909303 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 58909441 58909441 single base substitution A G downstream_gene_variant MELA-AU 19 58909494 58909494 single base substitution G A downstream_gene_variant MELA-AU 19 58909912 58909912 single base substitution G A downstream_gene_variant MELA-AU 19 58910038 58910038 single base substitution C T downstream_gene_variant MELA-AU 19 58911423 58911424 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 58911708 58911708 single base substitution G A downstream_gene_variant MELA-AU 19 58912159 58912159 single base substitution G A downstream_gene_variant MELA-AU 19 58912378 58912378 single base substitution G A downstream_gene_variant MELA-AU 19 58912438 58912438 single base substitution G A downstream_gene_variant MELA-AU 19 58912557 58912557 single base substitution C T downstream_gene_variant MELA-AU 19 58912838 58912838 single base substitution G A downstream_gene_variant PACA-AU 19 58903700 58903700 single base substitution A G upstream_gene_variant PACA-AU 19 58912803 58912803 single base substitution G T downstream_gene_variant PACA-AU 19 58912970 58912970 single base substitution G C downstream_gene_variant PACA-CA 19 58903300 58903300 single base substitution A C upstream_gene_variant PACA-CA 19 58905118 58905118 single base substitution C T upstream_gene_variant PACA-CA 19 58910205 58910205 single base substitution G A downstream_gene_variant PACA-CA 19 58910250 58910250 insertion of <=200bp - T downstream_gene_variant PACA-CA 19 58911347 58911347 single base substitution C T downstream_gene_variant PBCA-DE 19 58911154 58911154 single base substitution T C downstream_gene_variant PRAD-UK 19 58905257 58905257 single base substitution C G upstream_gene_variant PRAD-UK 19 58909663 58909663 single base substitution G A downstream_gene_variant RECA-EU 19 58909451 58909451 single base substitution A T downstream_gene_variant SKCA-BR 19 58905089 58905089 insertion of <=200bp - CTG upstream_gene_variant SKCA-BR 19 58905958 58905958 single base substitution C T upstream_gene_variant SKCA-BR 19 58906041 58906041 single base substitution C T upstream_gene_variant SKCA-BR 19 58907591 58907591 single base substitution A G synonymous_variant E45E 135A>G SKCA-BR 19 58908217 58908217 single base substitution C G missense_variant P254R 761C>G SKCA-BR 19 58908228 58908228 single base substitution T G missense_variant W258G 772T>G SKCA-BR 19 58908972 58908972 single base substitution A G downstream_gene_variant SKCA-BR 19 58909718 58909720 deletion of <=200bp TTC - downstream_gene_variant SKCM-US 19 58904729 58904729 single base substitution C T upstream_gene_variant SKCM-US 19 58904809 58904809 single base substitution G A upstream_gene_variant SKCM-US 19 58906062 58906062 single base substitution C T upstream_gene_variant SKCM-US 19 58907569 58907571 deletion of <=200bp AGG - inframe_deletion QE38Q STAD-US 19 58904472 58904472 single base substitution G A upstream_gene_variant STAD-US 19 58904820 58904820 single base substitution C T upstream_gene_variant STAD-US 19 58906110 58906110 single base substitution A G upstream_gene_variant UCEC-US 19 58904471 58904471 single base substitution C T upstream_gene_variant UCEC-US 19 58904474 58904474 single base substitution C A upstream_gene_variant UCEC-US 19 58904549 58904549 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand sysucc-1038T COSM5765733 c.801G>A p.T267T Substitution - coding silent 19:58396890-58396890 + BD87T COSM5505454 c.827C>G p.P276R Substitution - Missense 19:58396916-58396916 + sysucc-783T COSM5484345 c.781G>A p.A261T Substitution - Missense 19:58396870-58396870 + MSK-PCa1_organoid COSM5423575 c.944_945insG p.A316fs*>2 Insertion - Frameshift 19:58397033-58397034 + 392 COSM4428219 c.666C>T p.L222L Substitution - coding silent 19:58396755-58396755 + PD13760a COSM5786868 c.378G>A p.L126L Substitution - coding silent 19:58396467-58396467 + BD114T COSM5504623 c.361C>G p.R121G Substitution - Missense 19:58396450-58396450 + LP6007404-DNA_A01 COSM4416422 c.625G>A p.A209T Substitution - Missense 19:58396714-58396714 + ESCC_78 COSM5635477 c.214G>C p.D72H Substitution - Missense 19:58396303-58396303 + Au3 COSM5601744 c.686C>T p.S229F Substitution - Missense 19:58396775-58396775 +