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 17 19027675 19027675 single base substitution C G upstream_gene_variant BRCA-EU 17 19052215 19052215 single base substitution C T intron_variant BRCA-EU 17 19053083 19053083 single base substitution G A intron_variant COAD-US 17 19035997 19035998 deletion of <=200bp CT - frameshift_variant L12 COAD-US 17 19035997 19035998 deletion of <=200bp CT - frameshift_variant L41 COAD-US 17 19035997 19035998 deletion of <=200bp CT - upstream_gene_variant ESAD-UK 17 19050362 19050365 deletion of <=200bp GTGC - intron_variant LAML-KR 17 19061966 19061966 single base substitution C A 3_prime_UTR_variant LUSC-KR 17 19055446 19055446 single base substitution A C intron_variant LUSC-KR 17 19055652 19055652 single base substitution C T intron_variant LUSC-KR 17 19061608 19061608 single base substitution A C intron_variant MELA-AU 17 19029425 19029425 single base substitution G A upstream_gene_variant MELA-AU 17 19035736 19035736 single base substitution C T intron_variant MELA-AU 17 19035736 19035736 single base substitution C T upstream_gene_variant MELA-AU 17 19049910 19049910 single base substitution C T intron_variant MELA-AU 17 19050522 19050522 single base substitution C T intron_variant MELA-AU 17 19053083 19053083 single base substitution G A intron_variant MELA-AU 17 19053087 19053087 single base substitution A G intron_variant PACA-CA 17 19050379 19050379 single base substitution T C intron_variant PACA-CA 17 19053083 19053083 single base substitution G A intron_variant PBCA-DE 17 19027950 19027950 single base substitution G A upstream_gene_variant PBCA-DE 17 19047593 19047595 deletion of <=200bp TGC - intron_variant PRAD-UK 17 19044905 19044905 single base substitution C A downstream_gene_variant PRAD-UK 17 19044905 19044905 single base substitution C A intron_variant SKCA-BR 17 19036480 19036480 single base substitution A G intron_variant SKCA-BR 17 19047592 19047592 insertion of <=200bp - TTGC intron_variant SKCA-BR 17 19050363 19050363 insertion of <=200bp - TGC intron_variant SKCA-BR 17 19052984 19052984 single base substitution G A intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D5-5537-01 COSM1381411 c.121_122delCT p.L41fs*48 Deletion - Frameshift 17:19132684-19132685 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.661470 17p11.2 Hs.677624;Hs.677625;Hs.677626;Hs.677628;Hs.677629;Hs.677630;Hs.677631;Hs.677632;Hs.677633;Hs.677634;Hs.677635;Hs.677636;Hs.677637;Hs.677638;Hs.677639;Hs.677640;Hs.677641;Hs.677642;Hs.677643;Hs.677644;Hs.677645;Hs.677646;Hs.677647;Hs.677648;Hs.677649;Hs.677650;Hs.677651;Hs.677652;Hs.677653;Hs.677654;Hs.677655;Hs.677656;Hs.677657;Hs.677658;Hs.677659;Hs.677660;Hs.677661;Hs.677662;Hs.677663;Hs.677664;Hs.677665;Hs.677666;Hs.677667;Hs.677668;Hs.677669;Hs.677670;Hs.677671;Hs.677672;Hs.677673;Hs.677674 17p11.2 610144