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 13 38924164 38924164 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr13:38924164A>T c.31A>T c.(31-33)Acg>Tcg p.T11S HNSC 13 38924169 38924169 + Silent SNP G G T TCGA-CV-A461-01A-41D-A25Y-08 TCGA-CV-A461-10A-01D-A25Y-08 g.chr13:38924169G>T c.36G>T c.(34-36)tcG>tcT p.S12S HNSC 13 38933471 38933474 + Splice_Site DEL GTGA GTGA - TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr13:38933471_38933474delGTGA c.e5+1 LUSC 13 38934882 38934882 + Silent SNP G G A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 g.chr13:38934882G>A c.225G>A c.(223-225)cgG>cgA p.R75R OV 13 38928430 38928441 + Splice_Site DEL AGAAGTAAGTAC AGAAGTAAGTAC - TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 g.chr13:38928430_38928441delAGAAGTAAGTAC c.114_117delAGAAGTAAGTAC c.(112-117)gaagaa>ga p.EE38del PAAD 13 38924138 38924138 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:38924138C>T c.5C>T c.(4-6)tCg>tTg p.S2L SKCM 13 38924142 38924142 + Missense_Mutation SNP G G T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 g.chr13:38924142G>T c.9G>T c.(7-9)aaG>aaT p.K3N SKCM 13 38924147 38924147 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 g.chr13:38924147C>T c.14C>T c.(13-15)tCc>tTc p.S5F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 13 38924164 38924164 single base substitution A T 5_prime_UTR_variant BLCA-US 13 38924164 38924164 single base substitution A T exon_variant BLCA-US 13 38924164 38924164 single base substitution A T missense_variant T11S 31A>T BLCA-US 13 38924164 38924164 single base substitution A T upstream_gene_variant BOCA-FR 13 38931347 38931347 single base substitution G T downstream_gene_variant BOCA-FR 13 38931347 38931347 single base substitution G T intron_variant BRCA-EU 13 38919097 38919097 single base substitution T C upstream_gene_variant BRCA-EU 13 38920855 38920855 single base substitution A G upstream_gene_variant BRCA-EU 13 38921113 38921113 single base substitution G A upstream_gene_variant BRCA-EU 13 38921864 38921864 single base substitution C T upstream_gene_variant BRCA-EU 13 38922920 38922920 single base substitution A G upstream_gene_variant BRCA-EU 13 38923237 38923237 single base substitution T G upstream_gene_variant BRCA-EU 13 38925632 38925632 single base substitution A G intron_variant BRCA-EU 13 38925800 38925800 single base substitution G A intron_variant BRCA-EU 13 38927201 38927201 single base substitution G C intron_variant BRCA-EU 13 38927495 38927495 single base substitution G T intron_variant BRCA-EU 13 38927503 38927504 deletion of <=200bp TC - intron_variant BRCA-EU 13 38928267 38928267 single base substitution G A intron_variant BRCA-EU 13 38928268 38928268 deletion of <=200bp A - intron_variant BRCA-EU 13 38928758 38928758 single base substitution A G downstream_gene_variant BRCA-EU 13 38928758 38928758 single base substitution A G exon_variant BRCA-EU 13 38928758 38928758 single base substitution A G intron_variant BRCA-EU 13 38932210 38932210 single base substitution T A downstream_gene_variant BRCA-EU 13 38932210 38932210 single base substitution T A intron_variant BRCA-EU 13 38933153 38933153 single base substitution C G downstream_gene_variant BRCA-EU 13 38933153 38933153 single base substitution C G intron_variant BRCA-EU 13 38934531 38934531 deletion of <=200bp T - downstream_gene_variant BRCA-EU 13 38934531 38934531 deletion of <=200bp T - intron_variant BRCA-EU 13 38934722 38934722 single base substitution A C downstream_gene_variant BRCA-EU 13 38934722 38934722 single base substitution A C intron_variant BRCA-EU 13 38935045 38935045 single base substitution C T 3_prime_UTR_variant BRCA-EU 13 38935045 38935045 single base substitution C T downstream_gene_variant BRCA-EU 13 38935380 38935380 single base substitution G A 3_prime_UTR_variant BRCA-EU 13 38935380 38935380 single base substitution G A downstream_gene_variant BRCA-EU 13 38938102 38938102 single base substitution C T downstream_gene_variant BRCA-EU 13 38938107 38938107 single base substitution C T downstream_gene_variant BRCA-EU 13 38938232 38938232 single base substitution G A downstream_gene_variant BRCA-EU 13 38938440 38938440 single base substitution T G downstream_gene_variant BRCA-EU 13 38938608 38938608 single base substitution T C downstream_gene_variant BRCA-EU 13 38940447 38940447 insertion of <=200bp - GTA downstream_gene_variant BRCA-EU 13 38940774 38940774 single base substitution G A downstream_gene_variant BRCA-EU 13 38941054 38941086 deletion of <=200bp AGACTCCTTTTCAGTAAATATACACATTTATAG - downstream_gene_variant BRCA-EU 13 38941789 38941789 single base substitution G C downstream_gene_variant BRCA-EU 13 38941915 38941915 single base substitution G T downstream_gene_variant BRCA-FR 13 38922920 38922920 single base substitution A G upstream_gene_variant BRCA-FR 13 38925800 38925800 single base substitution G A intron_variant BRCA-FR 13 38932890 38932890 single base substitution C T downstream_gene_variant BRCA-FR 13 38932890 38932890 single base substitution C T intron_variant BRCA-FR 13 38941789 38941789 single base substitution G C downstream_gene_variant BRCA-UK 13 38920855 38920855 single base substitution A G upstream_gene_variant BRCA-UK 13 38941915 38941915 single base substitution G T downstream_gene_variant BTCA-JP 13 38928469 38928469 single base substitution C T exon_variant BTCA-JP 13 38928469 38928469 single base substitution C T intron_variant BTCA-JP 13 38934234 38934234 single base substitution T C downstream_gene_variant BTCA-JP 13 38934234 38934234 single base substitution T C intron_variant CLLE-ES 13 38931019 38931019 single base substitution A G downstream_gene_variant CLLE-ES 13 38931019 38931019 single base substitution A G intron_variant CLLE-ES 13 38939857 38939857 single base substitution C T downstream_gene_variant COAD-US 13 38932242 38932242 single base substitution G A downstream_gene_variant COAD-US 13 38932242 38932242 single base substitution G A missense_variant A44T 130G>A COAD-US 13 38932242 38932242 single base substitution G A missense_variant A62T 184G>A COCA-CN 13 38924138 38924138 single base substitution C T missense_variant S2L 5C>T COCA-CN 13 38924138 38924138 single base substitution C T splice_region_variant COCA-CN 13 38924138 38924138 single base substitution C T upstream_gene_variant COCA-CN 13 38928387 38928387 single base substitution C T exon_variant COCA-CN 13 38928387 38928387 single base substitution C T missense_variant P24L 71C>T COCA-CN 13 38928387 38928387 single base substitution C T missense_variant P42L 125C>T COCA-CN 13 38928494 38928494 single base substitution C A exon_variant COCA-CN 13 38928494 38928494 single base substitution C A intron_variant COCA-CN 13 38931127 38931127 single base substitution T G downstream_gene_variant COCA-CN 13 38931127 38931127 single base substitution T G intron_variant ESAD-UK 13 38919040 38919040 single base substitution A G upstream_gene_variant ESAD-UK 13 38919401 38919401 single base substitution T C upstream_gene_variant ESAD-UK 13 38920907 38920907 single base substitution A G upstream_gene_variant ESAD-UK 13 38921519 38921519 single base substitution A G upstream_gene_variant ESAD-UK 13 38921619 38921619 single base substitution T A upstream_gene_variant ESAD-UK 13 38922079 38922079 deletion of <=200bp A - upstream_gene_variant ESAD-UK 13 38922093 38922093 single base substitution T C upstream_gene_variant ESAD-UK 13 38923822 38923822 single base substitution T G upstream_gene_variant ESAD-UK 13 38923908 38923908 single base substitution A G upstream_gene_variant ESAD-UK 13 38925371 38925371 single base substitution C T intron_variant ESAD-UK 13 38928923 38928923 insertion of <=200bp - T downstream_gene_variant ESAD-UK 13 38928923 38928923 insertion of <=200bp - T exon_variant ESAD-UK 13 38928923 38928923 insertion of <=200bp - T intron_variant ESAD-UK 13 38929671 38929671 insertion of <=200bp - T downstream_gene_variant ESAD-UK 13 38929671 38929671 insertion of <=200bp - T intron_variant ESAD-UK 13 38929940 38929940 single base substitution G A downstream_gene_variant ESAD-UK 13 38929940 38929940 single base substitution G A intron_variant ESAD-UK 13 38930718 38930718 single base substitution T C downstream_gene_variant ESAD-UK 13 38930718 38930718 single base substitution T C intron_variant ESAD-UK 13 38930881 38930881 single base substitution G T downstream_gene_variant ESAD-UK 13 38930881 38930881 single base substitution G T intron_variant ESAD-UK 13 38932642 38932642 single base substitution T C downstream_gene_variant ESAD-UK 13 38932642 38932642 single base substitution T C intron_variant ESAD-UK 13 38932692 38932692 single base substitution A G downstream_gene_variant ESAD-UK 13 38932692 38932692 single base substitution A G intron_variant ESAD-UK 13 38933086 38933086 single base substitution A T downstream_gene_variant ESAD-UK 13 38933086 38933086 single base substitution A T intron_variant ESAD-UK 13 38933197 38933197 single base substitution A T downstream_gene_variant ESAD-UK 13 38933197 38933197 single base substitution A T intron_variant ESAD-UK 13 38933354 38933354 single base substitution A G downstream_gene_variant ESAD-UK 13 38933354 38933354 single base substitution A G intron_variant ESAD-UK 13 38935562 38935562 single base substitution G A 3_prime_UTR_variant ESAD-UK 13 38935562 38935562 single base substitution G A downstream_gene_variant ESAD-UK 13 38936171 38936171 single base substitution G A 3_prime_UTR_variant ESAD-UK 13 38936171 38936171 single base substitution G A downstream_gene_variant ESAD-UK 13 38937094 38937094 single base substitution G A 3_prime_UTR_variant ESAD-UK 13 38937094 38937094 single base substitution G A downstream_gene_variant ESAD-UK 13 38939231 38939231 single base substitution G A downstream_gene_variant ESAD-UK 13 38941712 38941712 single base substitution G A downstream_gene_variant ESCA-CN 13 38933348 38933348 single base substitution A T downstream_gene_variant ESCA-CN 13 38933348 38933348 single base substitution A T intron_variant LICA-FR 13 38926240 38926240 deletion of <=200bp T - intron_variant LICA-FR 13 38932206 38932208 deletion of <=200bp ATA - downstream_gene_variant LICA-FR 13 38932206 38932208 deletion of <=200bp ATA - intron_variant LICA-FR 13 38938423 38938423 single base substitution G C downstream_gene_variant LICA-FR 13 38940103 38940103 single base substitution C G downstream_gene_variant LIHC-US 13 38933458 38933458 single base substitution G T downstream_gene_variant LIHC-US 13 38933458 38933458 single base substitution G T missense_variant A60S 178G>T LIHC-US 13 38933458 38933458 single base substitution G T missense_variant A78S 232G>T LINC-JP 13 38919308 38919308 single base substitution C T upstream_gene_variant LINC-JP 13 38922053 38922053 single base substitution C A upstream_gene_variant LINC-JP 13 38927863 38927863 single base substitution G T intron_variant LINC-JP 13 38929341 38929341 deletion of <=200bp T - downstream_gene_variant LINC-JP 13 38929341 38929341 deletion of <=200bp T - intron_variant LINC-JP 13 38932460 38932460 single base substitution T G downstream_gene_variant LINC-JP 13 38932460 38932460 single base substitution T G intron_variant LINC-JP 13 38934648 38934648 single base substitution A C downstream_gene_variant LINC-JP 13 38934648 38934648 single base substitution A C intron_variant LIRI-JP 13 38919351 38919351 single base substitution G C upstream_gene_variant LIRI-JP 13 38920133 38920133 single base substitution G A upstream_gene_variant LIRI-JP 13 38920293 38920294 deletion of <=200bp GA - upstream_gene_variant LIRI-JP 13 38921536 38921536 single base substitution T C upstream_gene_variant LIRI-JP 13 38924607 38924607 single base substitution T C intron_variant LIRI-JP 13 38926323 38926323 single base substitution G A intron_variant LIRI-JP 13 38928690 38928690 single base substitution A G exon_variant LIRI-JP 13 38928690 38928690 single base substitution A G intron_variant LIRI-JP 13 38929377 38929377 single base substitution C G downstream_gene_variant LIRI-JP 13 38929377 38929377 single base substitution C G intron_variant LIRI-JP 13 38930059 38930059 single base substitution A G downstream_gene_variant LIRI-JP 13 38930059 38930059 single base substitution A G intron_variant LIRI-JP 13 38930595 38930595 single base substitution A G downstream_gene_variant LIRI-JP 13 38930595 38930595 single base substitution A G intron_variant LIRI-JP 13 38931781 38931781 single base substitution A G downstream_gene_variant LIRI-JP 13 38931781 38931781 single base substitution A G intron_variant LIRI-JP 13 38931877 38931877 single base substitution G A downstream_gene_variant LIRI-JP 13 38931877 38931877 single base substitution G A intron_variant LIRI-JP 13 38932200 38932200 single base substitution A G downstream_gene_variant LIRI-JP 13 38932200 38932200 single base substitution A G intron_variant LIRI-JP 13 38932951 38932951 single base substitution T G downstream_gene_variant LIRI-JP 13 38932951 38932951 single base substitution T G intron_variant LIRI-JP 13 38935385 38935385 single base substitution G C 3_prime_UTR_variant LIRI-JP 13 38935385 38935385 single base substitution G C downstream_gene_variant LIRI-JP 13 38936911 38936911 single base substitution A G 3_prime_UTR_variant LIRI-JP 13 38936911 38936911 single base substitution A G downstream_gene_variant LIRI-JP 13 38940064 38940064 single base substitution A G downstream_gene_variant LIRI-JP 13 38940111 38940111 single base substitution A G downstream_gene_variant LIRI-JP 13 38940907 38940907 single base substitution G A downstream_gene_variant LUSC-KR 13 38920293 38920293 single base substitution G A upstream_gene_variant LUSC-KR 13 38930064 38930064 single base substitution A T downstream_gene_variant LUSC-KR 13 38930064 38930064 single base substitution A T intron_variant LUSC-KR 13 38939226 38939226 single base substitution G A downstream_gene_variant LUSC-KR 13 38939927 38939927 single base substitution T C downstream_gene_variant LUSC-US 13 38934882 38934882 single base substitution G A downstream_gene_variant LUSC-US 13 38934882 38934882 single base substitution G A synonymous_variant R75R 225G>A LUSC-US 13 38934882 38934882 single base substitution G A synonymous_variant R93R 279G>A MALY-DE 13 38920992 38920992 insertion of <=200bp - A upstream_gene_variant MALY-DE 13 38921466 38921466 single base substitution A C upstream_gene_variant MALY-DE 13 38923004 38923004 single base substitution T A upstream_gene_variant MALY-DE 13 38923021 38923021 single base substitution G C upstream_gene_variant MALY-DE 13 38924649 38924649 single base substitution G A intron_variant MALY-DE 13 38926287 38926287 single base substitution T C intron_variant MALY-DE 13 38927142 38927142 single base substitution A G intron_variant MALY-DE 13 38928822 38928822 single base substitution A G downstream_gene_variant MALY-DE 13 38928822 38928822 single base substitution A G exon_variant MALY-DE 13 38928822 38928822 single base substitution A G intron_variant MALY-DE 13 38928886 38928886 single base substitution T A downstream_gene_variant MALY-DE 13 38928886 38928886 single base substitution T A exon_variant MALY-DE 13 38928886 38928886 single base substitution T A intron_variant MALY-DE 13 38929778 38929778 single base substitution T A downstream_gene_variant MALY-DE 13 38929778 38929778 single base substitution T A intron_variant MALY-DE 13 38930412 38930412 single base substitution A T downstream_gene_variant MALY-DE 13 38930412 38930412 single base substitution A T intron_variant MALY-DE 13 38930640 38930640 single base substitution G A downstream_gene_variant MALY-DE 13 38930640 38930640 single base substitution G A intron_variant MALY-DE 13 38931503 38931503 single base substitution A T downstream_gene_variant MALY-DE 13 38931503 38931503 single base substitution A T intron_variant MALY-DE 13 38932295 38932295 single base substitution A T downstream_gene_variant MALY-DE 13 38932295 38932295 single base substitution A T intron_variant MALY-DE 13 38932373 38932373 single base substitution A G downstream_gene_variant MALY-DE 13 38932373 38932373 single base substitution A G intron_variant MALY-DE 13 38932388 38932388 single base substitution A G downstream_gene_variant MALY-DE 13 38932388 38932388 single base substitution A G intron_variant MALY-DE 13 38932784 38932784 single base substitution A G downstream_gene_variant MALY-DE 13 38932784 38932784 single base substitution A G intron_variant MALY-DE 13 38933838 38933838 single base substitution G A 3_prime_UTR_variant MALY-DE 13 38933838 38933838 single base substitution G A downstream_gene_variant MALY-DE 13 38933838 38933838 single base substitution G A intron_variant MALY-DE 13 38933930 38933930 single base substitution T G downstream_gene_variant MALY-DE 13 38933930 38933930 single base substitution T G intron_variant MALY-DE 13 38934066 38934066 single base substitution A C downstream_gene_variant MALY-DE 13 38934066 38934066 single base substitution A C intron_variant MALY-DE 13 38934203 38934203 single base substitution A G downstream_gene_variant MALY-DE 13 38934203 38934203 single base substitution A G intron_variant MALY-DE 13 38934303 38934303 single base substitution A G downstream_gene_variant MALY-DE 13 38934303 38934303 single base substitution A G intron_variant MALY-DE 13 38934351 38934351 single base substitution T A downstream_gene_variant MALY-DE 13 38934351 38934351 single base substitution T A intron_variant MALY-DE 13 38936420 38936420 single base substitution A C 3_prime_UTR_variant MALY-DE 13 38936420 38936420 single base substitution A C downstream_gene_variant MALY-DE 13 38937173 38937173 single base substitution A C downstream_gene_variant MALY-DE 13 38937792 38937792 single base substitution A G downstream_gene_variant MALY-DE 13 38939388 38939388 single base substitution C T downstream_gene_variant MALY-DE 13 38941844 38941844 single base substitution A C downstream_gene_variant MELA-AU 13 38919652 38919652 single base substitution G C upstream_gene_variant MELA-AU 13 38919757 38919757 single base substitution G A upstream_gene_variant MELA-AU 13 38920104 38920104 single base substitution G A upstream_gene_variant MELA-AU 13 38920304 38920305 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 13 38921327 38921327 single base substitution C T upstream_gene_variant MELA-AU 13 38924530 38924530 single base substitution C T intron_variant MELA-AU 13 38924982 38924982 single base substitution C T intron_variant MELA-AU 13 38925430 38925430 single base substitution A T intron_variant MELA-AU 13 38925544 38925544 single base substitution C T intron_variant MELA-AU 13 38925847 38925847 single base substitution G A intron_variant MELA-AU 13 38926332 38926332 single base substitution C T intron_variant MELA-AU 13 38926687 38926687 single base substitution C T intron_variant MELA-AU 13 38927129 38927129 single base substitution C T intron_variant MELA-AU 13 38927644 38927644 single base substitution C T intron_variant MELA-AU 13 38928998 38928998 single base substitution C G downstream_gene_variant MELA-AU 13 38928998 38928998 single base substitution C G exon_variant MELA-AU 13 38928998 38928998 single base substitution C G intron_variant MELA-AU 13 38929368 38929368 single base substitution T G downstream_gene_variant MELA-AU 13 38929368 38929368 single base substitution T G intron_variant MELA-AU 13 38929597 38929597 single base substitution C T downstream_gene_variant MELA-AU 13 38929597 38929597 single base substitution C T intron_variant MELA-AU 13 38929913 38929913 single base substitution A T downstream_gene_variant MELA-AU 13 38929913 38929913 single base substitution A T intron_variant MELA-AU 13 38930350 38930350 single base substitution T C downstream_gene_variant MELA-AU 13 38930350 38930350 single base substitution T C intron_variant MELA-AU 13 38931109 38931109 single base substitution C T downstream_gene_variant MELA-AU 13 38931109 38931109 single base substitution C T intron_variant MELA-AU 13 38931304 38931304 single base substitution C T downstream_gene_variant MELA-AU 13 38931304 38931304 single base substitution C T intron_variant MELA-AU 13 38931685 38931685 single base substitution C T downstream_gene_variant MELA-AU 13 38931685 38931685 single base substitution C T intron_variant MELA-AU 13 38932021 38932022 multiple base substitution (>=2bp and <=200bp) TC CT downstream_gene_variant MELA-AU 13 38932021 38932022 multiple base substitution (>=2bp and <=200bp) TC CT intron_variant MELA-AU 13 38932335 38932335 single base substitution T A downstream_gene_variant MELA-AU 13 38932335 38932335 single base substitution T A intron_variant MELA-AU 13 38933999 38933999 single base substitution G A downstream_gene_variant MELA-AU 13 38933999 38933999 single base substitution G A intron_variant MELA-AU 13 38934100 38934100 single base substitution C T downstream_gene_variant MELA-AU 13 38934100 38934100 single base substitution C T intron_variant MELA-AU 13 38934290 38934290 single base substitution C T downstream_gene_variant MELA-AU 13 38934290 38934290 single base substitution C T intron_variant MELA-AU 13 38934764 38934764 single base substitution C T downstream_gene_variant MELA-AU 13 38934764 38934764 single base substitution C T intron_variant MELA-AU 13 38934898 38934898 single base substitution C T downstream_gene_variant MELA-AU 13 38934898 38934898 single base substitution C T missense_variant R81C 241C>T MELA-AU 13 38934898 38934898 single base substitution C T missense_variant R99C 295C>T MELA-AU 13 38934923 38934923 single base substitution T C 3_prime_UTR_variant MELA-AU 13 38934923 38934923 single base substitution T C downstream_gene_variant MELA-AU 13 38934949 38934949 single base substitution G T 3_prime_UTR_variant MELA-AU 13 38934949 38934949 single base substitution G T downstream_gene_variant MELA-AU 13 38935624 38935624 single base substitution C T 3_prime_UTR_variant MELA-AU 13 38935624 38935624 single base substitution C T downstream_gene_variant MELA-AU 13 38936865 38936865 single base substitution C T 3_prime_UTR_variant MELA-AU 13 38936865 38936865 single base substitution C T downstream_gene_variant MELA-AU 13 38938523 38938523 single base substitution C T downstream_gene_variant MELA-AU 13 38939392 38939392 single base substitution C T downstream_gene_variant MELA-AU 13 38939419 38939419 single base substitution C T downstream_gene_variant MELA-AU 13 38939487 38939487 single base substitution T C downstream_gene_variant MELA-AU 13 38939795 38939796 multiple base substitution (>=2bp and <=200bp) CC TA downstream_gene_variant MELA-AU 13 38939821 38939821 single base substitution T G downstream_gene_variant MELA-AU 13 38939912 38939912 single base substitution C T downstream_gene_variant MELA-AU 13 38940013 38940013 single base substitution C T downstream_gene_variant MELA-AU 13 38940018 38940018 single base substitution C T downstream_gene_variant MELA-AU 13 38940502 38940502 deletion of <=200bp T - downstream_gene_variant MELA-AU 13 38940525 38940525 single base substitution C T downstream_gene_variant MELA-AU 13 38940698 38940698 single base substitution C T downstream_gene_variant MELA-AU 13 38941050 38941050 single base substitution T C downstream_gene_variant MELA-AU 13 38941128 38941128 single base substitution C T downstream_gene_variant MELA-AU 13 38942004 38942004 single base substitution T A downstream_gene_variant ORCA-IN 13 38928399 38928399 single base substitution C T exon_variant ORCA-IN 13 38928399 38928399 single base substitution C T missense_variant P28L 83C>T ORCA-IN 13 38928399 38928399 single base substitution C T missense_variant P46L 137C>T OV-AU 13 38932667 38932667 single base substitution G C downstream_gene_variant OV-AU 13 38932667 38932667 single base substitution G C intron_variant OV-AU 13 38936191 38936191 single base substitution A G 3_prime_UTR_variant OV-AU 13 38936191 38936191 single base substitution A G downstream_gene_variant OV-AU 13 38936417 38936417 single base substitution A G 3_prime_UTR_variant OV-AU 13 38936417 38936417 single base substitution A G downstream_gene_variant OV-AU 13 38941673 38941673 single base substitution A G downstream_gene_variant OV-AU 13 38941692 38941692 single base substitution G A downstream_gene_variant OV-US 13 38928430 38928441 deletion of <=200bp AGAAGTAAGTAC - exon_variant OV-US 13 38928430 38928441 deletion of <=200bp AGAAGTAAGTAC - frameshift_variant EE38 OV-US 13 38928430 38928441 deletion of <=200bp AGAAGTAAGTAC - frameshift_variant EE56 PACA-AU 13 38923044 38923044 single base substitution G T upstream_gene_variant PACA-AU 13 38931403 38931403 single base substitution A T downstream_gene_variant PACA-AU 13 38931403 38931403 single base substitution A T intron_variant PACA-AU 13 38932455 38932464 deletion of <=200bp ATAGCTTTTG - downstream_gene_variant PACA-AU 13 38932455 38932464 deletion of <=200bp ATAGCTTTTG - intron_variant PACA-AU 13 38933423 38933423 single base substitution C T downstream_gene_variant PACA-AU 13 38933423 38933423 single base substitution C T intron_variant PACA-AU 13 38933582 38933582 deletion of <=200bp T - 3_prime_UTR_variant PACA-AU 13 38933582 38933582 deletion of <=200bp T - downstream_gene_variant PACA-AU 13 38933582 38933582 deletion of <=200bp T - intron_variant PACA-AU 13 38933913 38933913 single base substitution A T 3_prime_UTR_variant PACA-AU 13 38933913 38933913 single base substitution A T downstream_gene_variant PACA-AU 13 38933913 38933913 single base substitution A T intron_variant PACA-AU 13 38940180 38940180 single base substitution C G downstream_gene_variant PACA-CA 13 38922578 38922578 single base substitution C A upstream_gene_variant PACA-CA 13 38927732 38927732 single base substitution G T intron_variant PACA-CA 13 38928535 38928535 single base substitution G A exon_variant PACA-CA 13 38928535 38928535 single base substitution G A intron_variant PACA-CA 13 38935232 38935232 single base substitution A G 3_prime_UTR_variant PACA-CA 13 38935232 38935232 single base substitution A G downstream_gene_variant PACA-CA 13 38940428 38940428 single base substitution C T downstream_gene_variant PAEN-AU 13 38931212 38931212 single base substitution G A downstream_gene_variant PAEN-AU 13 38931212 38931212 single base substitution G A intron_variant PBCA-DE 13 38922182 38922184 deletion of <=200bp AAC - upstream_gene_variant PBCA-DE 13 38926469 38926469 single base substitution C G intron_variant PBCA-DE 13 38938088 38938088 deletion of <=200bp A - downstream_gene_variant PRAD-CA 13 38932194 38932194 single base substitution G A downstream_gene_variant PRAD-CA 13 38932194 38932194 single base substitution G A intron_variant PRAD-UK 13 38923879 38923879 single base substitution G T upstream_gene_variant PRAD-UK 13 38929561 38929561 single base substitution A G downstream_gene_variant PRAD-UK 13 38929561 38929561 single base substitution A G intron_variant PRAD-UK 13 38942080 38942080 single base substitution G T downstream_gene_variant RECA-EU 13 38925971 38925971 single base substitution C T intron_variant RECA-EU 13 38933615 38933615 single base substitution G T 3_prime_UTR_variant RECA-EU 13 38933615 38933615 single base substitution G T downstream_gene_variant RECA-EU 13 38933615 38933615 single base substitution G T intron_variant SKCA-BR 13 38919238 38919238 single base substitution C T upstream_gene_variant SKCA-BR 13 38921878 38921878 single base substitution G A upstream_gene_variant SKCA-BR 13 38922011 38922011 single base substitution T G upstream_gene_variant SKCA-BR 13 38925005 38925005 single base substitution C T intron_variant SKCA-BR 13 38932442 38932442 single base substitution C T downstream_gene_variant SKCA-BR 13 38932442 38932442 single base substitution C T intron_variant SKCA-BR 13 38934638 38934638 single base substitution T G downstream_gene_variant SKCA-BR 13 38934638 38934638 single base substitution T G intron_variant SKCA-BR 13 38935166 38935166 single base substitution C T 3_prime_UTR_variant SKCA-BR 13 38935166 38935166 single base substitution C T downstream_gene_variant SKCA-BR 13 38937633 38937635 deletion of <=200bp GAA - downstream_gene_variant SKCA-BR 13 38938068 38938068 single base substitution C T downstream_gene_variant SKCA-BR 13 38938109 38938109 single base substitution C T downstream_gene_variant SKCA-BR 13 38938709 38938709 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 13 38939014 38939014 single base substitution G A downstream_gene_variant SKCA-BR 13 38941702 38941702 single base substitution C T downstream_gene_variant SKCM-US 13 38924142 38924142 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 13 38924142 38924142 single base substitution G T exon_variant SKCM-US 13 38924142 38924142 single base substitution G T missense_variant K3N 9G>T SKCM-US 13 38924142 38924142 single base substitution G T upstream_gene_variant SKCM-US 13 38924147 38924147 single base substitution C T 5_prime_UTR_variant SKCM-US 13 38924147 38924147 single base substitution C T exon_variant SKCM-US 13 38924147 38924147 single base substitution C T missense_variant S5F 14C>T SKCM-US 13 38924147 38924147 single base substitution C T upstream_gene_variant THCA-SA 13 38935068 38935068 single base substitution T C 3_prime_UTR_variant THCA-SA 13 38935068 38935068 single base substitution T C downstream_gene_variant THCA-SA 13 38936372 38936372 single base substitution A G 3_prime_UTR_variant THCA-SA 13 38936372 38936372 single base substitution A G downstream_gene_variant UCEC-US 13 38924257 38924257 single base substitution C T exon_variant UCEC-US 13 38924257 38924257 single base substitution C T intron_variant UCEC-US 13 38924257 38924257 single base substitution C T synonymous_variant I2I 6C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESO-0292 COSM1241874 c.223C>T p.R75W Substitution - Missense 13:38360743-38360743 + TCGA-13-1491-01 COSM111740 c.114_117+8delAGAAGTAAGTAC p.? Unknown 13:38354293-38354304 + C547 COSM4442370 c.241C>T p.R81C Substitution - Missense 13:38360761-38360761 + LUAD-D00147 COSM362761 c.176C>G p.P59R Substitution - Missense 13:38359319-38359319 + OSCC-GB_00410111 COSM3711059 c.83C>T p.P28L Substitution - Missense 13:38354262-38354262 + TCGA-EE-A184-06 COSM3468780 c.9G>T p.K3N Substitution - Missense 13:38350005-38350005 + 41T COSM3711059 c.83C>T p.P28L Substitution - Missense 13:38354262-38354262 + CSCC-7-T COSM4447420 c.3-5C>T p.? Unknown 13:38349994-38349994 + TCGA-CK-5916-01 COSM3688808 c.130G>A p.A44T Substitution - Missense 13:38358105-38358105 + TCGA-D9-A148-06 COSM3468781 c.14C>T p.S5F Substitution - Missense 13:38350010-38350010 + TCGA-G3-A25T-01 COSM4941571 c.178G>T p.A60S Substitution - Missense 13:38359321-38359321 + TCGA-BT-A3PK-01 COSM3793275 c.31A>T p.T11S Substitution - Missense 13:38350027-38350027 + T3033 COSM4739032 c.227T>C p.I76T Substitution - Missense 13:38360747-38360747 + TCGA-66-2791-01 COSM696614 c.225G>A p.R75R Substitution - coding silent 13:38360745-38360745 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.643621;Hs.643648;Hs.643653;Hs.643655 13q13.3 610553

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AGAAGTAAGTAC - SpliceDonorDeletion . c.117+3_117+14delAAGTACAGAAGT 13 38928430 OV A T Missense p.T11S c.31A>T 13 38924164 BLCA C T 3-UTRSNV . c.255+104C>T 13 38935016 CM C T Missense p.P43S c.127C>T 13 38932239 CM C T Missense p.S5F c.14C>T 13 38924147 CM G A Synonymous p.R75R c.225G>A 13 38934882 LUSC G T Missense p.K3N c.9G>T 13 38924142 CM T A IntronicSNV . c.190+123T>A 13 38933593 CM