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 COAD 3 134197488 134197488 + Missense_Mutation SNP A A G TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr3:134197488A>G c.169T>C c.(169-171)Tgg>Cgg p.W57R COADREAD 3 134197488 134197488 + Missense_Mutation SNP A A G TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr3:134197488A>G c.169T>C c.(169-171)Tgg>Cgg p.W57R ESCA 3 134201686 134201686 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr3:134201686C>G c.61G>C c.(61-63)Gaa>Caa p.E21Q LUAD 3 134197443 134197444 + Frame_Shift_Ins INS - - G TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr3:134197443_134197444insG c.213_214insC c.(211-216)cccattfs p.I72fs LUSC 3 134197492 134197492 + Missense_Mutation SNP C C T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr3:134197492C>T c.165G>A c.(163-165)atG>atA p.M55I

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 3 134192942 134192942 single base substitution C G downstream_gene_variant BRCA-EU 3 134193429 134193429 single base substitution C G downstream_gene_variant BRCA-EU 3 134194501 134194501 single base substitution G A downstream_gene_variant BRCA-EU 3 134195317 134195317 single base substitution C T downstream_gene_variant BRCA-EU 3 134196050 134196050 single base substitution T C downstream_gene_variant BRCA-EU 3 134198802 134198802 single base substitution A T downstream_gene_variant BRCA-EU 3 134198802 134198802 single base substitution A T intron_variant BRCA-EU 3 134200333 134200333 single base substitution C G downstream_gene_variant BRCA-EU 3 134200333 134200333 single base substitution C G intron_variant BRCA-EU 3 134200420 134200420 single base substitution C T downstream_gene_variant BRCA-EU 3 134200420 134200420 single base substitution C T intron_variant BRCA-EU 3 134200965 134200965 single base substitution C T downstream_gene_variant BRCA-EU 3 134200965 134200965 single base substitution C T intron_variant BRCA-EU 3 134202790 134202790 single base substitution C T intron_variant BRCA-EU 3 134202790 134202790 single base substitution C T upstream_gene_variant BRCA-EU 3 134203844 134203844 single base substitution T C intron_variant BRCA-EU 3 134203844 134203844 single base substitution T C upstream_gene_variant BRCA-EU 3 134204289 134204289 single base substitution G C 5_prime_UTR_variant BRCA-EU 3 134204289 134204289 single base substitution G C exon_variant BRCA-EU 3 134204289 134204289 single base substitution G C intron_variant BRCA-EU 3 134204289 134204289 single base substitution G C upstream_gene_variant BRCA-EU 3 134204521 134204521 single base substitution C T 5_prime_UTR_variant BRCA-EU 3 134204521 134204521 single base substitution C T exon_variant BRCA-EU 3 134204521 134204521 single base substitution C T intron_variant BRCA-EU 3 134204521 134204521 single base substitution C T upstream_gene_variant BRCA-EU 3 134205848 134205848 single base substitution T G upstream_gene_variant BRCA-EU 3 134206474 134206474 single base substitution G A upstream_gene_variant BRCA-EU 3 134206489 134206489 single base substitution A G upstream_gene_variant BRCA-EU 3 134206635 134206635 single base substitution C G upstream_gene_variant BRCA-EU 3 134207044 134207044 single base substitution C G upstream_gene_variant BRCA-EU 3 134207550 134207550 single base substitution G A upstream_gene_variant BRCA-EU 3 134207951 134207951 single base substitution C T upstream_gene_variant BRCA-FR 3 134196050 134196050 single base substitution T C downstream_gene_variant ESAD-UK 3 134191564 134191564 single base substitution C T downstream_gene_variant ESAD-UK 3 134194590 134194590 single base substitution C A downstream_gene_variant ESAD-UK 3 134197208 134197208 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 134197208 134197208 single base substitution C T downstream_gene_variant ESAD-UK 3 134199330 134199330 single base substitution C T downstream_gene_variant ESAD-UK 3 134199330 134199330 single base substitution C T intron_variant ESAD-UK 3 134199890 134199890 single base substitution T G downstream_gene_variant ESAD-UK 3 134199890 134199890 single base substitution T G intron_variant ESAD-UK 3 134200814 134200814 single base substitution T G downstream_gene_variant ESAD-UK 3 134200814 134200814 single base substitution T G intron_variant ESAD-UK 3 134201659 134201659 single base substitution C T exon_variant ESAD-UK 3 134201659 134201659 single base substitution C T missense_variant A30T 88G>A ESAD-UK 3 134203389 134203389 single base substitution G A intron_variant ESAD-UK 3 134203389 134203389 single base substitution G A upstream_gene_variant ESAD-UK 3 134207324 134207324 single base substitution G A upstream_gene_variant ESAD-UK 3 134208287 134208287 single base substitution G C upstream_gene_variant ESAD-UK 3 134208571 134208571 deletion of <=200bp A - upstream_gene_variant LIRI-JP 3 134191996 134191996 single base substitution C T downstream_gene_variant LIRI-JP 3 134195031 134195031 single base substitution C T downstream_gene_variant LIRI-JP 3 134197288 134197288 single base substitution A C 3_prime_UTR_variant LIRI-JP 3 134197288 134197288 single base substitution A C downstream_gene_variant LIRI-JP 3 134198502 134198502 single base substitution T C downstream_gene_variant LIRI-JP 3 134198502 134198502 single base substitution T C intron_variant LIRI-JP 3 134202806 134202806 single base substitution T G intron_variant LIRI-JP 3 134202806 134202806 single base substitution T G upstream_gene_variant LIRI-JP 3 134203418 134203418 single base substitution G A intron_variant LIRI-JP 3 134203418 134203418 single base substitution G A upstream_gene_variant LIRI-JP 3 134205870 134205870 single base substitution G A upstream_gene_variant LIRI-JP 3 134205871 134205871 single base substitution C A upstream_gene_variant LIRI-JP 3 134209884 134209884 single base substitution A G upstream_gene_variant LUSC-KR 3 134193365 134193365 single base substitution G T downstream_gene_variant LUSC-KR 3 134194487 134194487 single base substitution C G downstream_gene_variant LUSC-KR 3 134195964 134195964 single base substitution C A downstream_gene_variant LUSC-KR 3 134196383 134196383 single base substitution C G downstream_gene_variant LUSC-KR 3 134200398 134200398 single base substitution C T downstream_gene_variant LUSC-KR 3 134200398 134200398 single base substitution C T intron_variant LUSC-KR 3 134206073 134206073 single base substitution T A upstream_gene_variant LUSC-US 3 134197492 134197492 single base substitution C T downstream_gene_variant LUSC-US 3 134197492 134197492 single base substitution C T exon_variant LUSC-US 3 134197492 134197492 single base substitution C T missense_variant M55I 165G>A MALY-DE 3 134194629 134194629 single base substitution A T downstream_gene_variant MALY-DE 3 134198187 134198187 insertion of <=200bp - T downstream_gene_variant MALY-DE 3 134198187 134198187 insertion of <=200bp - T intron_variant MALY-DE 3 134207591 134207591 single base substitution C T upstream_gene_variant MELA-AU 3 134191681 134191681 single base substitution G A downstream_gene_variant MELA-AU 3 134191815 134191815 single base substitution G A downstream_gene_variant MELA-AU 3 134191823 134191823 single base substitution C T downstream_gene_variant MELA-AU 3 134192096 134192096 single base substitution G A downstream_gene_variant MELA-AU 3 134192213 134192213 single base substitution G A downstream_gene_variant MELA-AU 3 134192246 134192246 single base substitution G A downstream_gene_variant MELA-AU 3 134193066 134193066 single base substitution A T downstream_gene_variant MELA-AU 3 134193340 134193340 single base substitution G A downstream_gene_variant MELA-AU 3 134193558 134193558 single base substitution G A downstream_gene_variant MELA-AU 3 134193888 134193888 single base substitution G C downstream_gene_variant MELA-AU 3 134195157 134195157 single base substitution G A downstream_gene_variant MELA-AU 3 134195212 134195212 single base substitution G A downstream_gene_variant MELA-AU 3 134197411 134197411 single base substitution C T 3_prime_UTR_variant MELA-AU 3 134197411 134197411 single base substitution C T downstream_gene_variant MELA-AU 3 134197411 134197411 single base substitution C T exon_variant MELA-AU 3 134197758 134197758 single base substitution G A downstream_gene_variant MELA-AU 3 134197758 134197758 single base substitution G A intron_variant MELA-AU 3 134199025 134199025 single base substitution G A downstream_gene_variant MELA-AU 3 134199025 134199025 single base substitution G A intron_variant MELA-AU 3 134199029 134199029 single base substitution G A downstream_gene_variant MELA-AU 3 134199029 134199029 single base substitution G A intron_variant MELA-AU 3 134199565 134199565 single base substitution C T downstream_gene_variant MELA-AU 3 134199565 134199565 single base substitution C T intron_variant MELA-AU 3 134199804 134199804 single base substitution G A downstream_gene_variant MELA-AU 3 134199804 134199804 single base substitution G A intron_variant MELA-AU 3 134199837 134199837 single base substitution G A downstream_gene_variant MELA-AU 3 134199837 134199837 single base substitution G A intron_variant MELA-AU 3 134199906 134199906 single base substitution G A downstream_gene_variant MELA-AU 3 134199906 134199906 single base substitution G A intron_variant MELA-AU 3 134200670 134200670 single base substitution G A downstream_gene_variant MELA-AU 3 134200670 134200670 single base substitution G A intron_variant MELA-AU 3 134201501 134201501 single base substitution G A downstream_gene_variant MELA-AU 3 134201501 134201501 single base substitution G A intron_variant MELA-AU 3 134201871 134201871 single base substitution T C exon_variant MELA-AU 3 134201871 134201871 single base substitution T C intron_variant MELA-AU 3 134203207 134203207 single base substitution C T intron_variant MELA-AU 3 134203207 134203207 single base substitution C T upstream_gene_variant MELA-AU 3 134204178 134204178 single base substitution C T 5_prime_UTR_variant MELA-AU 3 134204178 134204178 single base substitution C T exon_variant MELA-AU 3 134204178 134204178 single base substitution C T intron_variant MELA-AU 3 134204178 134204178 single base substitution C T upstream_gene_variant MELA-AU 3 134206590 134206590 single base substitution C T upstream_gene_variant MELA-AU 3 134206778 134206778 single base substitution C T upstream_gene_variant MELA-AU 3 134207000 134207000 single base substitution T C upstream_gene_variant MELA-AU 3 134207057 134207057 single base substitution T C upstream_gene_variant MELA-AU 3 134207185 134207185 single base substitution G A upstream_gene_variant MELA-AU 3 134207333 134207333 single base substitution C T upstream_gene_variant MELA-AU 3 134208267 134208267 single base substitution C T upstream_gene_variant MELA-AU 3 134208378 134208378 single base substitution C T upstream_gene_variant MELA-AU 3 134208594 134208594 single base substitution C T upstream_gene_variant MELA-AU 3 134209082 134209082 single base substitution C T upstream_gene_variant MELA-AU 3 134209181 134209181 single base substitution T G upstream_gene_variant MELA-AU 3 134209446 134209446 single base substitution C T upstream_gene_variant MELA-AU 3 134209541 134209541 single base substitution C T upstream_gene_variant MELA-AU 3 134210525 134210525 single base substitution G A upstream_gene_variant ORCA-IN 3 134195716 134195716 single base substitution C T downstream_gene_variant ORCA-IN 3 134204523 134204523 single base substitution C T 5_prime_UTR_variant ORCA-IN 3 134204523 134204523 single base substitution C T exon_variant ORCA-IN 3 134204523 134204523 single base substitution C T intron_variant ORCA-IN 3 134204523 134204523 single base substitution C T upstream_gene_variant OV-AU 3 134191777 134191777 single base substitution T G downstream_gene_variant OV-AU 3 134192557 134192557 single base substitution T A downstream_gene_variant OV-AU 3 134194326 134194326 single base substitution C A downstream_gene_variant OV-AU 3 134195143 134195143 single base substitution G A downstream_gene_variant OV-AU 3 134198882 134198882 single base substitution C G downstream_gene_variant OV-AU 3 134198882 134198882 single base substitution C G intron_variant OV-AU 3 134200174 134200174 single base substitution C G downstream_gene_variant OV-AU 3 134200174 134200174 single base substitution C G intron_variant OV-AU 3 134200297 134200297 single base substitution C G downstream_gene_variant OV-AU 3 134200297 134200297 single base substitution C G intron_variant OV-AU 3 134203594 134203594 single base substitution C G intron_variant OV-AU 3 134203594 134203594 single base substitution C G upstream_gene_variant OV-AU 3 134204877 134204877 single base substitution T G intron_variant OV-AU 3 134204877 134204877 single base substitution T G upstream_gene_variant OV-AU 3 134204977 134204977 single base substitution C G intron_variant OV-AU 3 134204977 134204977 single base substitution C G upstream_gene_variant OV-AU 3 134209653 134209653 single base substitution C G upstream_gene_variant OV-AU 3 134209938 134209938 single base substitution G A upstream_gene_variant PACA-AU 3 134193288 134193288 deletion of <=200bp T - downstream_gene_variant PACA-AU 3 134195541 134195541 single base substitution G A downstream_gene_variant PACA-CA 3 134192514 134192514 single base substitution T A downstream_gene_variant PACA-CA 3 134193903 134193903 single base substitution G T downstream_gene_variant PACA-CA 3 134194542 134194542 single base substitution T C downstream_gene_variant PACA-CA 3 134195382 134195382 single base substitution C T downstream_gene_variant PACA-CA 3 134206248 134206248 single base substitution C G upstream_gene_variant PACA-CA 3 134206863 134206863 single base substitution G A upstream_gene_variant PACA-CA 3 134208701 134208701 single base substitution G T upstream_gene_variant PACA-CA 3 134209439 134209439 deletion of <=200bp T - upstream_gene_variant PBCA-DE 3 134200480 134200480 single base substitution T A downstream_gene_variant PBCA-DE 3 134200480 134200480 single base substitution T A intron_variant PRAD-UK 3 134193216 134193216 single base substitution T C downstream_gene_variant PRAD-UK 3 134207727 134207727 single base substitution C T upstream_gene_variant PRAD-UK 3 134209700 134209700 single base substitution G T upstream_gene_variant RECA-EU 3 134195995 134195995 single base substitution G A downstream_gene_variant SKCA-BR 3 134195885 134195885 single base substitution A G downstream_gene_variant SKCA-BR 3 134199719 134199719 single base substitution G A downstream_gene_variant SKCA-BR 3 134199719 134199719 single base substitution G A intron_variant SKCA-BR 3 134202934 134202934 single base substitution G C intron_variant SKCA-BR 3 134202934 134202934 single base substitution G C upstream_gene_variant SKCA-BR 3 134204661 134204661 single base substitution T G 5_prime_UTR_variant SKCA-BR 3 134204661 134204661 single base substitution T G intron_variant SKCA-BR 3 134204661 134204661 single base substitution T G upstream_gene_variant SKCA-BR 3 134204839 134204839 single base substitution C T 5_prime_UTR_variant SKCA-BR 3 134204839 134204839 single base substitution C T intron_variant SKCA-BR 3 134204839 134204839 single base substitution C T upstream_gene_variant SKCA-BR 3 134204845 134204845 single base substitution T C 5_prime_UTR_variant SKCA-BR 3 134204845 134204845 single base substitution T C intron_variant SKCA-BR 3 134204845 134204845 single base substitution T C upstream_gene_variant SKCA-BR 3 134205920 134205920 single base substitution A G upstream_gene_variant SKCA-BR 3 134210183 134210183 single base substitution A G upstream_gene_variant STAD-US 3 134201677 134201677 single base substitution G A exon_variant STAD-US 3 134201677 134201677 single base substitution G A synonymous_variant L24L 70C>T THCA-SA 3 134197429 134197429 single base substitution G A 3_prime_UTR_variant THCA-SA 3 134197429 134197429 single base substitution G A downstream_gene_variant THCA-SA 3 134197429 134197429 single base substitution G A exon_variant UCEC-US 3 134201661 134201661 single base substitution A G exon_variant UCEC-US 3 134201661 134201661 single base substitution A G missense_variant V29A 86T>C UCEC-US 3 134201761 134201761 single base substitution G T 5_prime_UTR_variant UCEC-US 3 134201761 134201761 single base substitution G T exon_variant UCEC-US 3 134204834 134204836 deletion of <=200bp CCC - 5_prime_UTR_variant UCEC-US 3 134204834 134204836 deletion of <=200bp CCC - intron_variant UCEC-US 3 134204834 134204836 deletion of <=200bp CCC - upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand MZ7-mel COSM22078 c.171G>A p.W57* Substitution - Nonsense 3:134478644-134478644 - TCGA-22-5473-01 COSM728318 c.165G>A p.M55I Substitution - Missense 3:134478650-134478650 - Pat_34_A COSM5863576 c.146C>T p.S49F Substitution - Missense 3:134478669-134478669 - HCT8 COSM4634910 c.33C>T p.I11I Substitution - coding silent 3:134482872-134482872 - TCGA-AP-A056-01 COSM1038666 c.86T>C p.V29A Substitution - Missense 3:134482819-134482819 - LUAD-NYU1051S COSM368851 c.88G>T p.A30S Substitution - Missense 3:134482817-134482817 - TCGA-BR-8487-01 COSM3122702 c.70C>T p.L24L Substitution - coding silent 3:134482835-134482835 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.106909 3q22.2 614484

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C T Missense p.M55I c.165G>A 3 134197492 LUSC