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 1 949726 949726 + Silent SNP C C T TCGA-DK-AA6X-01A-12D-A42E-08 TCGA-DK-AA6X-10A-01D-A42H-08 g.chr1:949726C>T c.366C>T c.(364-366)ttC>ttT p.F122F BLCA 1 949846 949846 + Silent SNP C C T TCGA-E7-A6MF-01A-12D-A32B-08 TCGA-E7-A6MF-10B-01D-A329-08 g.chr1:949846C>T c.486C>T c.(484-486)ggC>ggT p.G162G BLCA 1 949846 949846 + Silent SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 g.chr1:949846C>T c.486C>T c.(484-486)ggC>ggT p.G162G CESC 1 949717 949717 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 g.chr1:949717C>T c.357C>T c.(355-357)gaC>gaT p.D119D COAD 1 949491 949491 + Missense_Mutation SNP G G T TCGA-D5-6920-01A-11D-1924-10 TCGA-D5-6920-10A-01D-1924-10 g.chr1:949491G>T c.131G>T c.(130-132)cGt>cTt p.R44L COADREAD 1 949491 949491 + Missense_Mutation SNP G G T TCGA-D5-6920-01A-11D-1924-10 TCGA-D5-6920-10A-01D-1924-10 g.chr1:949491G>T c.131G>T c.(130-132)cGt>cTt p.R44L GBMLGG 1 949506 949506 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:949506C>T c.146C>T c.(145-147)cCg>cTg p.P49L HNSC 1 949534 949534 + Silent SNP C C T TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr1:949534C>T c.174C>T c.(172-174)gtC>gtT p.V58V HNSC 1 949561 949561 + Silent SNP C C A TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr1:949561C>A c.201C>A c.(199-201)ccC>ccA p.P67P KIPAN 1 949654 949654 + Silent SNP A A G TCGA-BP-4351-01A-01D-1366-10 TCGA-BP-4351-11A-01D-1366-10 g.chr1:949654A>G c.294A>G c.(292-294)gtA>gtG p.V98V KIRC 1 949654 949654 + Silent SNP A A G TCGA-BP-4351-01A-01D-1366-10 TCGA-BP-4351-11A-01D-1366-10 g.chr1:949654A>G c.294A>G c.(292-294)gtA>gtG p.V98V LGG 1 949506 949506 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:949506C>T c.146C>T c.(145-147)cCg>cTg p.P49L LUAD 1 949579 949579 + Silent SNP G G T TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr1:949579G>T c.219G>T c.(217-219)ctG>ctT p.L73L LUSC 1 949562 949562 + Missense_Mutation SNP G G A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 g.chr1:949562G>A c.202G>A c.(202-204)Ggc>Agc p.G68S PRAD 1 949846 949846 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr1:949846C>T c.486C>T c.(484-486)ggC>ggT p.G162G SKCM 1 949739 949739 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr1:949739G>A c.379G>A c.(379-381)Gag>Aag p.E127K

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 1 944039 944039 single base substitution G A upstream_gene_variant BRCA-EU 1 944695 944695 single base substitution A G upstream_gene_variant BRCA-EU 1 945132 945132 single base substitution A T upstream_gene_variant BRCA-EU 1 945386 945386 single base substitution A G upstream_gene_variant BRCA-EU 1 945456 945456 single base substitution G A upstream_gene_variant BRCA-EU 1 946146 946146 deletion of <=200bp G - upstream_gene_variant BRCA-EU 1 947471 947471 single base substitution G A upstream_gene_variant BRCA-EU 1 948877 948877 single base substitution G C 5_prime_UTR_variant BRCA-EU 1 949245 949245 single base substitution G C intron_variant BRCA-EU 1 950041 950041 single base substitution C G downstream_gene_variant BRCA-EU 1 950567 950567 single base substitution G A downstream_gene_variant BRCA-EU 1 952531 952531 single base substitution G C downstream_gene_variant BRCA-EU 1 953320 953320 single base substitution C T downstream_gene_variant BRCA-EU 1 953955 953955 single base substitution C T downstream_gene_variant BRCA-EU 1 954061 954061 single base substitution G A downstream_gene_variant BRCA-EU 1 954112 954112 single base substitution G A downstream_gene_variant CESC-US 1 949717 949717 single base substitution C T synonymous_variant D119D 357C>T COAD-US 1 949491 949491 single base substitution G T missense_variant R44L 131G>T COAD-US 1 949608 949608 single base substitution G A missense_variant S83N 248G>A COCA-CN 1 949038 949038 single base substitution G T intron_variant COCA-CN 1 953527 953527 single base substitution G A downstream_gene_variant ESAD-UK 1 944364 944364 single base substitution C T upstream_gene_variant ESAD-UK 1 944577 944577 single base substitution G C upstream_gene_variant ESAD-UK 1 946134 946134 single base substitution T G upstream_gene_variant ESAD-UK 1 946612 946612 single base substitution C T upstream_gene_variant ESAD-UK 1 947056 947056 single base substitution C T upstream_gene_variant ESAD-UK 1 948768 948768 deletion of <=200bp G - upstream_gene_variant ESAD-UK 1 948939 948939 single base substitution C T 5_prime_UTR_variant ESAD-UK 1 949880 949880 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 951607 951607 insertion of <=200bp - T downstream_gene_variant KIRC-US 1 949654 949654 single base substitution A G synonymous_variant V98V 294A>G LAML-KR 1 948786 948786 single base substitution C A upstream_gene_variant LAML-KR 1 953317 953317 single base substitution T C downstream_gene_variant LICA-FR 1 947937 947937 single base substitution A T upstream_gene_variant LIRI-JP 1 950063 950063 single base substitution G A downstream_gene_variant LUSC-KR 1 947125 947125 single base substitution C T upstream_gene_variant LUSC-KR 1 953465 953465 single base substitution G T downstream_gene_variant LUSC-US 1 949562 949562 single base substitution G A missense_variant G68S 202G>A MALY-DE 1 947298 947298 single base substitution C T upstream_gene_variant MALY-DE 1 952917 952917 single base substitution G A downstream_gene_variant MALY-DE 1 954803 954803 single base substitution A C downstream_gene_variant MELA-AU 1 943991 943991 single base substitution C T upstream_gene_variant MELA-AU 1 944450 944450 single base substitution G A upstream_gene_variant MELA-AU 1 944857 944857 single base substitution C T upstream_gene_variant MELA-AU 1 945142 945142 single base substitution C T upstream_gene_variant MELA-AU 1 945502 945502 single base substitution G A upstream_gene_variant MELA-AU 1 947027 947027 single base substitution C T upstream_gene_variant MELA-AU 1 947152 947152 single base substitution C T upstream_gene_variant MELA-AU 1 947283 947283 single base substitution C T upstream_gene_variant MELA-AU 1 947573 947573 single base substitution C T upstream_gene_variant MELA-AU 1 948030 948030 single base substitution C T upstream_gene_variant MELA-AU 1 948508 948508 single base substitution C T upstream_gene_variant MELA-AU 1 948580 948580 single base substitution C T upstream_gene_variant MELA-AU 1 948736 948736 single base substitution C T upstream_gene_variant MELA-AU 1 949009 949009 single base substitution C T intron_variant MELA-AU 1 949116 949116 single base substitution C T intron_variant MELA-AU 1 949327 949327 single base substitution T C intron_variant MELA-AU 1 949739 949739 single base substitution G A missense_variant E127K 379G>A MELA-AU 1 949807 949807 single base substitution C T synonymous_variant F149F 447C>T MELA-AU 1 950496 950496 single base substitution C T downstream_gene_variant MELA-AU 1 950947 950947 single base substitution G T downstream_gene_variant MELA-AU 1 951070 951070 single base substitution C T downstream_gene_variant MELA-AU 1 951562 951562 single base substitution C T downstream_gene_variant MELA-AU 1 952329 952329 single base substitution C T downstream_gene_variant MELA-AU 1 952789 952789 single base substitution C T downstream_gene_variant MELA-AU 1 953550 953550 single base substitution C T downstream_gene_variant MELA-AU 1 953719 953719 single base substitution G A downstream_gene_variant MELA-AU 1 953754 953754 single base substitution C T downstream_gene_variant MELA-AU 1 953758 953758 single base substitution G A downstream_gene_variant MELA-AU 1 954747 954747 single base substitution C T downstream_gene_variant ORCA-IN 1 949717 949717 single base substitution C A missense_variant D119E 357C>A OV-AU 1 951977 951977 single base substitution A C downstream_gene_variant OV-AU 1 953016 953016 single base substitution T C downstream_gene_variant PACA-AU 1 949846 949846 single base substitution C T synonymous_variant G162G 486C>T PACA-AU 1 951786 951786 single base substitution A T downstream_gene_variant PACA-AU 1 952276 952276 single base substitution G A downstream_gene_variant PACA-AU 1 952608 952614 deletion of <=200bp CTCGCGG - downstream_gene_variant PACA-CA 1 945183 945183 single base substitution G C upstream_gene_variant PACA-CA 1 945704 945704 single base substitution G A upstream_gene_variant PACA-CA 1 947751 947751 single base substitution C T upstream_gene_variant PACA-CA 1 950220 950220 single base substitution C T downstream_gene_variant PACA-CA 1 951714 951714 single base substitution T G downstream_gene_variant PACA-CA 1 953465 953465 single base substitution G T downstream_gene_variant PACA-CA 1 954631 954631 single base substitution C T downstream_gene_variant PACA-CA 1 954706 954707 deletion of <=200bp CT - downstream_gene_variant PBCA-DE 1 947018 947018 single base substitution C T upstream_gene_variant PRAD-CA 1 953354 953354 single base substitution G A downstream_gene_variant PRAD-UK 1 947745 947745 single base substitution C T upstream_gene_variant PRAD-UK 1 949497 949497 single base substitution C A missense_variant A46D 137C>A PRAD-US 1 949846 949846 single base substitution C T synonymous_variant G162G 486C>T RECA-EU 1 943835 943835 single base substitution G A upstream_gene_variant RECA-EU 1 944232 944232 single base substitution C T upstream_gene_variant SKCA-BR 1 947136 947136 single base substitution A G upstream_gene_variant SKCA-BR 1 948656 948656 single base substitution T G upstream_gene_variant SKCA-BR 1 948662 948662 single base substitution T G upstream_gene_variant SKCA-BR 1 953317 953317 single base substitution T C downstream_gene_variant SKCA-BR 1 953354 953354 single base substitution G A downstream_gene_variant SKCA-BR 1 953952 953952 single base substitution G A downstream_gene_variant SKCA-BR 1 953955 953955 single base substitution C T downstream_gene_variant SKCA-BR 1 953956 953956 single base substitution C T downstream_gene_variant SKCA-BR 1 954856 954856 single base substitution G A downstream_gene_variant SKCA-BR 1 954859 954860 deletion of <=200bp TG - downstream_gene_variant SKCA-BR 1 954867 954867 single base substitution C G downstream_gene_variant SKCA-BR 1 954879 954879 single base substitution G A downstream_gene_variant SKCM-US 1 949739 949739 single base substitution G A missense_variant E127K 379G>A STAD-US 1 949723 949723 single base substitution G A synonymous_variant L121L 363G>A UCEC-US 1 949415 949415 single base substitution C T synonymous_variant L19L 55C>T UCEC-US 1 949538 949538 single base substitution C A missense_variant L60I 178C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand OSCC-GB_00660111 COSM4888753 c.357C>A p.D119E Substitution - Missense 1:1014337-1014337 + TCGA-EJ-7782-01 COSM3386404 c.486C>T p.G162G Substitution - coding silent 1:1014466-1014466 + SNU-175 COSM2260823 c.209C>T p.T70M Substitution - Missense 1:1014189-1014189 + PTC-28C COSM3751464 c.248G>A p.S83N Substitution - Missense 1:1014228-1014228 + 8058344 COSM3386404 c.486C>T p.G162G Substitution - coding silent 1:1014466-1014466 + HCT-116 COSM1667054 c.392T>C p.L131P Substitution - Missense 1:1014372-1014372 + HN_62860 COSM128249 c.84G>A p.L28L Substitution - coding silent 1:1014064-1014064 + TCGA-D5-6920-01 COSM1344977 c.131G>T p.R44L Substitution - Missense 1:1014111-1014111 + H838 COSM1193109 c.382G>T p.G128W Substitution - Missense 1:1014362-1014362 + SW480 COSM2260809 c.118G>A p.A40T Substitution - Missense 1:1014098-1014098 + HCT116 COSM1667054 c.392T>C p.L131P Substitution - Missense 1:1014372-1014372 + SC_9038 COSM5558638 c.454C>A p.L152M Substitution - Missense 1:1014434-1014434 + TCGA-BP-4351-01 COSM3773520 c.294A>G p.V98V Substitution - coding silent 1:1014274-1014274 + TCGA-BS-A0UL-01 COSM913499 c.178C>A p.L60I Substitution - Missense 1:1014158-1014158 + SW620 COSM2260809 c.118G>A p.A40T Substitution - Missense 1:1014098-1014098 + 1N31-VS-1T31 COSM4974185 c.151G>A p.G51S Substitution - Missense 1:1014131-1014131 + TCGA-34-5928-01 COSM682636 c.202G>A p.G68S Substitution - Missense 1:1014182-1014182 + RD COSM1197159 c.446T>C p.F149S Substitution - Missense 1:1014426-1014426 + 587284 COSM1210934 c.109G>A p.G37S Substitution - Missense 1:1014089-1014089 + TCGA-AM-5821-01 COSM3751464 c.248G>A p.S83N Substitution - Missense 1:1014228-1014228 + LXFL529 COSM1197159 c.446T>C p.F149S Substitution - Missense 1:1014426-1014426 + TCGA-EE-A29L-06 COSM3493572 c.379G>A p.E127K Substitution - Missense 1:1014359-1014359 + TCGA-CD-A48A-01 COSM4010722 c.363G>A p.L121L Substitution - coding silent 1:1014343-1014343 + 19M COSM5578750 c.390C>T p.P130P Substitution - coding silent 1:1014370-1014370 + TCGA-MY-A5BD-01 COSM4855772 c.357C>T p.D119D Substitution - coding silent 1:1014337-1014337 + TCGA-D1-A103-01 COSM913497 c.55C>T p.L19L Substitution - coding silent 1:1014035-1014035 + 0025_CRUK_PC_0025_T1_DNA COSM5421511 c.137C>A p.A46D Substitution - Missense 1:1014117-1014117 + EGC15 COSM5053767 c.146C>T p.P49L Substitution - Missense 1:1014126-1014126 + SNU-C2B COSM4651381 c.159G>A p.A53A Substitution - coding silent 1:1014139-1014139 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.458485 1p36.33 147571 2449349|CGAP|BC009507|A/G|coding|Val98Val|334|Candidate; 2449353|CGAP|BC009507|C/T|non-coding||8|Candidate; 1509484|dbSNP|BC009507|C/T|coding|Pro67Pro|241|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.L60I c.178C>A 1 949538 UCEC G A Missense p.A61T c.181G>A 1 949541 LUAD G A Missense p.E127K c.379G>A 1 949739 CM G A Missense p.G68S c.202G>A 1 949562 LUSC G A Missense p.R92H c.275G>A 1 949635 STAD G A Missense p.S112N c.335G>A 1 949695 CM G A Synonymous p.L28L c.84G>A 1 949444 HNSC