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 3 58484490 58484490 + Missense_Mutation SNP A A G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 g.chr3:58484490A>G c.8A>G c.(7-9)aAt>aGt p.N3S BLCA 3 58486802 58486802 + Nonsense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr3:58486802C>T c.157C>T c.(157-159)Caa>Taa p.Q53* BLCA 3 58487085 58487085 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr3:58487085C>G c.440C>G c.(439-441)aCt>aGt p.T147S BRCA 3 58486742 58486742 + Missense_Mutation SNP T T C TCGA-E2-A570-01A-11D-A29N-09 TCGA-E2-A570-10A-01D-A29N-09 g.chr3:58486742T>C c.97T>C c.(97-99)Tac>Cac p.Y33H COAD 3 58487329 58487329 + Missense_Mutation SNP C C A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr3:58487329C>A c.684C>A c.(682-684)ttC>ttA p.F228L COADREAD 3 58487211 58487211 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:58487211C>A c.566C>A c.(565-567)tCt>tAt p.S189Y COADREAD 3 58487329 58487329 + Missense_Mutation SNP C C A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr3:58487329C>A c.684C>A c.(682-684)ttC>ttA p.F228L LIHC 3 58487086 58487086 + Silent SNP T T G TCGA-DD-AAE3-01A-11D-A40R-10 TCGA-DD-AAE3-10A-01D-A40U-10 g.chr3:58487086T>G c.441T>G c.(439-441)acT>acG p.T147T LIHC 3 58487150 58487158 + In_Frame_Del DEL GACACCAGA GACACCAGA - TCGA-DD-AAEA-01A-11D-A40R-10 TCGA-DD-AAEA-10A-01D-A40U-10 g.chr3:58487150_58487158delGACACCAGA c.505_513delGACACCAGA c.(505-513)gacaccagadel p.DTR169del LUAD 3 58487206 58487206 + Missense_Mutation SNP A A T TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr3:58487206A>T c.561A>T c.(559-561)gaA>gaT p.E187D LUSC 3 58486964 58486964 + Missense_Mutation SNP G G A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 g.chr3:58486964G>A c.319G>A c.(319-321)Gat>Aat p.D107N PAAD 3 58486991 58486991 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:58486991A>G c.346A>G c.(346-348)Act>Gct p.T116A PAAD 3 58487184 58487184 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:58487184G>A c.539G>A c.(538-540)gGa>gAa p.G180E READ 3 58487211 58487211 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:58487211C>A c.566C>A c.(565-567)tCt>tAt p.S189Y SKCM 3 58486760 58486760 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr3:58486760G>A c.115G>A c.(115-117)Gga>Aga p.G39R SKCM 3 58486761 58486761 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr3:58486761G>A c.116G>A c.(115-117)gGa>gAa p.G39E SKCM 3 58486826 58486826 + Missense_Mutation SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr3:58486826G>A c.181G>A c.(181-183)Gat>Aat p.D61N SKCM 3 58486841 58486841 + Nonsense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr3:58486841C>T c.196C>T c.(196-198)Cga>Tga p.R66* SKCM 3 58487097 58487097 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr3:58487097C>T c.452C>T c.(451-453)tCc>tTc p.S151F

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 3 58486802 58486802 single base substitution C T downstream_gene_variant BLCA-US 3 58486802 58486802 single base substitution C T exon_variant BLCA-US 3 58486802 58486802 single base substitution C T stop_gained Q44* 130C>T BLCA-US 3 58486802 58486802 single base substitution C T stop_gained Q53* 157C>T BRCA-EU 3 58473664 58473664 single base substitution G A upstream_gene_variant BRCA-EU 3 58474373 58474373 single base substitution G A upstream_gene_variant BRCA-EU 3 58475734 58475734 single base substitution G A upstream_gene_variant BRCA-EU 3 58477738 58477738 single base substitution C T upstream_gene_variant BRCA-EU 3 58478076 58478076 single base substitution G A intron_variant BRCA-EU 3 58478076 58478076 single base substitution G A upstream_gene_variant BRCA-EU 3 58480240 58480240 single base substitution C T intron_variant BRCA-EU 3 58480240 58480240 single base substitution C T upstream_gene_variant BRCA-EU 3 58484383 58484383 single base substitution C A 5_prime_UTR_variant BRCA-EU 3 58484383 58484383 single base substitution C A exon_variant BRCA-EU 3 58484383 58484383 single base substitution C A intron_variant BRCA-EU 3 58485509 58485509 single base substitution C A downstream_gene_variant BRCA-EU 3 58485509 58485509 single base substitution C A intron_variant BRCA-EU 3 58485916 58485916 single base substitution C A downstream_gene_variant BRCA-EU 3 58485916 58485916 single base substitution C A intron_variant BRCA-EU 3 58486301 58486301 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 58486301 58486301 deletion of <=200bp A - intron_variant BRCA-EU 3 58486466 58486466 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 58486466 58486466 deletion of <=200bp T - intron_variant BRCA-EU 3 58486534 58486534 single base substitution C T downstream_gene_variant BRCA-EU 3 58486534 58486534 single base substitution C T intron_variant BRCA-EU 3 58487347 58487347 single base substitution G C downstream_gene_variant BRCA-EU 3 58487347 58487347 single base substitution G C missense_variant K234N 702G>C BRCA-EU 3 58488579 58488579 single base substitution C T downstream_gene_variant BRCA-EU 3 58490876 58490896 deletion of <=200bp TTTAATGTTGCATATATGCCA - downstream_gene_variant BRCA-EU 3 58491136 58491136 single base substitution A C downstream_gene_variant BRCA-FR 3 58488248 58488248 single base substitution G A downstream_gene_variant BRCA-UK 3 58484383 58484383 single base substitution C A 5_prime_UTR_variant BRCA-UK 3 58484383 58484383 single base substitution C A exon_variant BRCA-UK 3 58484383 58484383 single base substitution C A intron_variant BRCA-US 3 58486742 58486742 single base substitution T C downstream_gene_variant BRCA-US 3 58486742 58486742 single base substitution T C exon_variant BRCA-US 3 58486742 58486742 single base substitution T C missense_variant Y24H 70T>C BRCA-US 3 58486742 58486742 single base substitution T C missense_variant Y33H 97T>C CESC-US 3 58484430 58484430 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant CESC-US 3 58484430 58484430 single base substitution C G exon_variant CESC-US 3 58484430 58484430 single base substitution C G intron_variant CESC-US 3 58490952 58490952 single base substitution C G downstream_gene_variant CESC-US 3 58490952 58490952 single base substitution C T downstream_gene_variant COCA-CN 3 58487004 58487004 single base substitution T G downstream_gene_variant COCA-CN 3 58487004 58487004 single base substitution T G missense_variant V120G 359T>G COCA-CN 3 58491127 58491127 single base substitution A G downstream_gene_variant ESAD-UK 3 58473194 58473194 deletion of <=200bp A - upstream_gene_variant ESAD-UK 3 58474619 58474619 single base substitution C A upstream_gene_variant ESAD-UK 3 58476487 58476487 single base substitution C G upstream_gene_variant ESAD-UK 3 58482872 58482872 insertion of <=200bp - CT intron_variant ESAD-UK 3 58482872 58482872 insertion of <=200bp - CT upstream_gene_variant ESAD-UK 3 58486722 58486722 single base substitution C T downstream_gene_variant ESAD-UK 3 58486722 58486722 single base substitution C T exon_variant ESAD-UK 3 58486722 58486722 single base substitution C T missense_variant S17F 50C>T ESAD-UK 3 58486722 58486722 single base substitution C T missense_variant S26F 77C>T ESAD-UK 3 58488879 58488879 single base substitution G A downstream_gene_variant ESAD-UK 3 58489241 58489241 single base substitution A T downstream_gene_variant ESAD-UK 3 58492468 58492468 single base substitution G A downstream_gene_variant KIRC-US 3 58490979 58490979 single base substitution A G downstream_gene_variant LICA-CN 3 58486927 58486927 single base substitution T G downstream_gene_variant LICA-CN 3 58486927 58486927 single base substitution T G missense_variant D94E 282T>G LICA-FR 3 58473600 58473600 single base substitution T C upstream_gene_variant LICA-FR 3 58489672 58489674 deletion of <=200bp TTT - downstream_gene_variant LICA-FR 3 58489672 58489675 deletion of <=200bp TTTT - downstream_gene_variant LINC-JP 3 58485904 58485904 single base substitution A C downstream_gene_variant LINC-JP 3 58485904 58485904 single base substitution A C intron_variant LINC-JP 3 58486436 58486436 single base substitution T G downstream_gene_variant LINC-JP 3 58486436 58486436 single base substitution T G intron_variant LINC-JP 3 58486762 58486762 single base substitution A G downstream_gene_variant LINC-JP 3 58486762 58486762 single base substitution A G exon_variant LINC-JP 3 58486762 58486762 single base substitution A G synonymous_variant G30G 90A>G LINC-JP 3 58486762 58486762 single base substitution A G synonymous_variant G39G 117A>G LINC-JP 3 58487460 58487460 single base substitution A G 3_prime_UTR_variant LINC-JP 3 58487460 58487460 single base substitution A G downstream_gene_variant LINC-JP 3 58489077 58489077 deletion of <=200bp A - downstream_gene_variant LIRI-JP 3 58479028 58479028 single base substitution G A intron_variant LIRI-JP 3 58479028 58479028 single base substitution G A upstream_gene_variant LIRI-JP 3 58481322 58481324 deletion of <=200bp ATC - intron_variant LIRI-JP 3 58481322 58481324 deletion of <=200bp ATC - upstream_gene_variant LIRI-JP 3 58481936 58481937 deletion of <=200bp AA - intron_variant LIRI-JP 3 58481936 58481937 deletion of <=200bp AA - upstream_gene_variant LIRI-JP 3 58484559 58484559 single base substitution G T downstream_gene_variant LIRI-JP 3 58484559 58484559 single base substitution G T intron_variant LIRI-JP 3 58485749 58485749 single base substitution T A downstream_gene_variant LIRI-JP 3 58485749 58485749 single base substitution T A intron_variant LIRI-JP 3 58485772 58485772 single base substitution T C downstream_gene_variant LIRI-JP 3 58485772 58485772 single base substitution T C intron_variant LIRI-JP 3 58485876 58485876 single base substitution T A downstream_gene_variant LIRI-JP 3 58485876 58485876 single base substitution T A intron_variant LIRI-JP 3 58486250 58486250 single base substitution T G downstream_gene_variant LIRI-JP 3 58486250 58486250 single base substitution T G intron_variant LIRI-JP 3 58487174 58487174 single base substitution T A downstream_gene_variant LIRI-JP 3 58487174 58487174 single base substitution T A missense_variant F177I 529T>A LIRI-JP 3 58487182 58487182 single base substitution T C downstream_gene_variant LIRI-JP 3 58487182 58487182 single base substitution T C synonymous_variant F179F 537T>C LIRI-JP 3 58487705 58487720 deletion of <=200bp AATACAAGAATGAAAG - 3_prime_UTR_variant LIRI-JP 3 58487705 58487720 deletion of <=200bp AATACAAGAATGAAAG - downstream_gene_variant LIRI-JP 3 58487855 58487855 single base substitution A C 3_prime_UTR_variant LIRI-JP 3 58487855 58487855 single base substitution A C downstream_gene_variant LIRI-JP 3 58488099 58488099 single base substitution T C downstream_gene_variant LIRI-JP 3 58488147 58488147 single base substitution A G downstream_gene_variant LIRI-JP 3 58488376 58488376 single base substitution T G downstream_gene_variant LIRI-JP 3 58488979 58488979 single base substitution T C downstream_gene_variant LIRI-JP 3 58489329 58489329 single base substitution T C downstream_gene_variant LIRI-JP 3 58490732 58490732 single base substitution T C downstream_gene_variant LIRI-JP 3 58492066 58492066 single base substitution T G downstream_gene_variant LIRI-JP 3 58492813 58492813 single base substitution T C downstream_gene_variant LUSC-KR 3 58475578 58475578 single base substitution C T upstream_gene_variant LUSC-KR 3 58476689 58476689 single base substitution G A upstream_gene_variant LUSC-KR 3 58477461 58477461 single base substitution G C upstream_gene_variant LUSC-KR 3 58482161 58482161 single base substitution A G intron_variant LUSC-KR 3 58482161 58482161 single base substitution A G upstream_gene_variant LUSC-KR 3 58485266 58485266 single base substitution C T downstream_gene_variant LUSC-KR 3 58485266 58485266 single base substitution C T intron_variant LUSC-US 3 58486964 58486964 single base substitution G A downstream_gene_variant LUSC-US 3 58486964 58486964 single base substitution G A missense_variant D107N 319G>A MALY-DE 3 58479432 58479432 single base substitution C T intron_variant MALY-DE 3 58479432 58479432 single base substitution C T upstream_gene_variant MALY-DE 3 58479897 58479897 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 3 58479897 58479897 single base substitution G T intron_variant MALY-DE 3 58479897 58479897 single base substitution G T upstream_gene_variant MELA-AU 3 58472981 58472981 single base substitution G A upstream_gene_variant MELA-AU 3 58473224 58473224 single base substitution G A upstream_gene_variant MELA-AU 3 58473271 58473271 single base substitution G A upstream_gene_variant MELA-AU 3 58473288 58473288 single base substitution G A upstream_gene_variant MELA-AU 3 58473334 58473334 single base substitution C T upstream_gene_variant MELA-AU 3 58475012 58475012 single base substitution G A upstream_gene_variant MELA-AU 3 58475090 58475090 single base substitution C T upstream_gene_variant MELA-AU 3 58475907 58475907 single base substitution C T upstream_gene_variant MELA-AU 3 58475919 58475919 single base substitution C T upstream_gene_variant MELA-AU 3 58476219 58476219 single base substitution G A upstream_gene_variant MELA-AU 3 58479247 58479247 single base substitution G A intron_variant MELA-AU 3 58479247 58479247 single base substitution G A upstream_gene_variant MELA-AU 3 58479562 58479562 single base substitution C T intron_variant MELA-AU 3 58479562 58479562 single base substitution C T upstream_gene_variant MELA-AU 3 58479703 58479703 single base substitution C T 5_prime_UTR_variant MELA-AU 3 58479703 58479703 single base substitution C T intron_variant MELA-AU 3 58479703 58479703 single base substitution C T upstream_gene_variant MELA-AU 3 58479863 58479863 single base substitution T G 5_prime_UTR_variant MELA-AU 3 58479863 58479863 single base substitution T G intron_variant MELA-AU 3 58479863 58479863 single base substitution T G upstream_gene_variant MELA-AU 3 58480540 58480540 single base substitution C T intron_variant MELA-AU 3 58480540 58480540 single base substitution C T upstream_gene_variant MELA-AU 3 58481697 58481697 single base substitution C T intron_variant MELA-AU 3 58481697 58481697 single base substitution C T upstream_gene_variant MELA-AU 3 58482508 58482508 single base substitution T C intron_variant MELA-AU 3 58482508 58482508 single base substitution T C upstream_gene_variant MELA-AU 3 58484637 58484637 single base substitution C T downstream_gene_variant MELA-AU 3 58484637 58484637 single base substitution C T intron_variant MELA-AU 3 58485157 58485157 single base substitution C T downstream_gene_variant MELA-AU 3 58485157 58485157 single base substitution C T intron_variant MELA-AU 3 58485345 58485345 single base substitution G A downstream_gene_variant MELA-AU 3 58485345 58485345 single base substitution G A intron_variant MELA-AU 3 58485576 58485576 single base substitution C T downstream_gene_variant MELA-AU 3 58485576 58485576 single base substitution C T intron_variant MELA-AU 3 58485925 58485925 single base substitution C T downstream_gene_variant MELA-AU 3 58485925 58485925 single base substitution C T intron_variant MELA-AU 3 58486299 58486300 multiple base substitution (>=2bp and <=200bp) TT AA downstream_gene_variant MELA-AU 3 58486299 58486300 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 3 58486369 58486369 single base substitution G T downstream_gene_variant MELA-AU 3 58486369 58486369 single base substitution G T intron_variant MELA-AU 3 58486967 58486967 single base substitution C T downstream_gene_variant MELA-AU 3 58486967 58486967 single base substitution C T missense_variant P108S 322C>T MELA-AU 3 58487221 58487221 single base substitution C T downstream_gene_variant MELA-AU 3 58487221 58487221 single base substitution C T synonymous_variant V192V 576C>T MELA-AU 3 58487535 58487535 single base substitution C T 3_prime_UTR_variant MELA-AU 3 58487535 58487535 single base substitution C T downstream_gene_variant MELA-AU 3 58487837 58487837 single base substitution A T 3_prime_UTR_variant MELA-AU 3 58487837 58487837 single base substitution A T downstream_gene_variant MELA-AU 3 58490343 58490344 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 58490345 58490345 single base substitution C T downstream_gene_variant MELA-AU 3 58490362 58490362 single base substitution C T downstream_gene_variant MELA-AU 3 58491063 58491063 single base substitution T G downstream_gene_variant MELA-AU 3 58491259 58491259 single base substitution C T downstream_gene_variant MELA-AU 3 58492015 58492015 single base substitution C T downstream_gene_variant MELA-AU 3 58492120 58492120 single base substitution T C downstream_gene_variant ORCA-IN 3 58476966 58476966 single base substitution C T upstream_gene_variant OV-AU 3 58477272 58477272 single base substitution G A upstream_gene_variant OV-AU 3 58483326 58483326 single base substitution A G intron_variant OV-AU 3 58483326 58483326 single base substitution A G upstream_gene_variant PACA-AU 3 58474403 58474403 single base substitution G A upstream_gene_variant PACA-AU 3 58480601 58480601 single base substitution A T intron_variant PACA-AU 3 58480601 58480601 single base substitution A T upstream_gene_variant PACA-AU 3 58491049 58491049 single base substitution C G downstream_gene_variant PACA-CA 3 58473470 58473470 single base substitution A G upstream_gene_variant PACA-CA 3 58479562 58479562 single base substitution C T intron_variant PACA-CA 3 58479562 58479562 single base substitution C T upstream_gene_variant PACA-CA 3 58486817 58486817 single base substitution A T downstream_gene_variant PACA-CA 3 58486817 58486817 single base substitution A T exon_variant PACA-CA 3 58486817 58486817 single base substitution A T missense_variant I49F 145A>T PACA-CA 3 58486817 58486817 single base substitution A T missense_variant I58F 172A>T PBCA-DE 3 58476817 58476817 single base substitution G T upstream_gene_variant PBCA-DE 3 58491354 58491354 single base substitution T C downstream_gene_variant READ-US 3 58487000 58487000 single base substitution G T downstream_gene_variant READ-US 3 58487000 58487000 single base substitution G T stop_gained E119* 355G>T RECA-EU 3 58487694 58487694 single base substitution A G 3_prime_UTR_variant RECA-EU 3 58487694 58487694 single base substitution A G downstream_gene_variant RECA-EU 3 58489483 58489483 single base substitution A G downstream_gene_variant RECA-EU 3 58491754 58491754 single base substitution G C downstream_gene_variant SKCA-BR 3 58474037 58474037 single base substitution G A upstream_gene_variant SKCA-BR 3 58474207 58474207 single base substitution G A upstream_gene_variant SKCA-BR 3 58475564 58475564 single base substitution G A upstream_gene_variant SKCA-BR 3 58478112 58478112 single base substitution T G intron_variant SKCA-BR 3 58478112 58478112 single base substitution T G upstream_gene_variant SKCA-BR 3 58480300 58480300 single base substitution A T intron_variant SKCA-BR 3 58480300 58480300 single base substitution A T upstream_gene_variant SKCA-BR 3 58482008 58482009 deletion of <=200bp TC - intron_variant SKCA-BR 3 58482008 58482009 deletion of <=200bp TC - upstream_gene_variant SKCA-BR 3 58482011 58482011 single base substitution C T intron_variant SKCA-BR 3 58482011 58482011 single base substitution C T upstream_gene_variant SKCA-BR 3 58483630 58483630 single base substitution T C 5_prime_UTR_variant SKCA-BR 3 58483630 58483630 single base substitution T C intron_variant SKCA-BR 3 58483630 58483630 single base substitution T C upstream_gene_variant SKCA-BR 3 58483704 58483704 single base substitution C T 5_prime_UTR_variant SKCA-BR 3 58483704 58483704 single base substitution C T intron_variant SKCA-BR 3 58483704 58483704 single base substitution C T upstream_gene_variant SKCA-BR 3 58483709 58483709 single base substitution C T 5_prime_UTR_variant SKCA-BR 3 58483709 58483709 single base substitution C T intron_variant SKCA-BR 3 58483709 58483709 single base substitution C T upstream_gene_variant SKCA-BR 3 58484447 58484447 single base substitution G A 5_prime_UTR_variant SKCA-BR 3 58484447 58484447 single base substitution G A exon_variant SKCA-BR 3 58485382 58485382 single base substitution C T downstream_gene_variant SKCA-BR 3 58485382 58485382 single base substitution C T intron_variant SKCA-BR 3 58492297 58492297 single base substitution A G downstream_gene_variant SKCM-US 3 58486826 58486826 single base substitution G A downstream_gene_variant SKCM-US 3 58486826 58486826 single base substitution G A missense_variant D52N 154G>A SKCM-US 3 58486826 58486826 single base substitution G A missense_variant D61N 181G>A SKCM-US 3 58486841 58486841 single base substitution C T downstream_gene_variant SKCM-US 3 58486841 58486841 single base substitution C T stop_gained R57* 169C>T SKCM-US 3 58486841 58486841 single base substitution C T stop_gained R66* 196C>T SKCM-US 3 58486915 58486915 single base substitution G A downstream_gene_variant SKCM-US 3 58486915 58486915 single base substitution G A synonymous_variant R90R 270G>A SKCM-US 3 58487097 58487097 single base substitution C T downstream_gene_variant SKCM-US 3 58487097 58487097 single base substitution C T missense_variant S151F 452C>T STAD-US 3 58486884 58486884 single base substitution C T downstream_gene_variant STAD-US 3 58486884 58486884 single base substitution C T missense_variant P71L 212C>T STAD-US 3 58486884 58486884 single base substitution C T missense_variant P80L 239C>T STAD-US 3 58487062 58487062 single base substitution C T downstream_gene_variant STAD-US 3 58487062 58487062 single base substitution C T synonymous_variant I139I 417C>T UCEC-US 3 58486763 58486763 single base substitution G A downstream_gene_variant UCEC-US 3 58486763 58486763 single base substitution G A exon_variant UCEC-US 3 58486763 58486763 single base substitution G A missense_variant A31T 91G>A UCEC-US 3 58486763 58486763 single base substitution G A missense_variant A40T 118G>A UCEC-US 3 58486807 58486807 single base substitution C T downstream_gene_variant UCEC-US 3 58486807 58486807 single base substitution C T exon_variant UCEC-US 3 58486807 58486807 single base substitution C T synonymous_variant G45G 135C>T UCEC-US 3 58486807 58486807 single base substitution C T synonymous_variant G54G 162C>T UCEC-US 3 58486885 58486885 single base substitution G A downstream_gene_variant UCEC-US 3 58486885 58486885 single base substitution G A synonymous_variant P71P 213G>A UCEC-US 3 58486885 58486885 single base substitution G A synonymous_variant P80P 240G>A UCEC-US 3 58487334 58487334 single base substitution G T downstream_gene_variant UCEC-US 3 58487334 58487334 single base substitution G T missense_variant R230M 689G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSB20 COSM110345 c.611C>T p.T204M Substitution - Missense 3:58501529-58501529 + TCGA-E2-A570-01 COSM3824493 c.97T>C p.Y33H Substitution - Missense 3:58501015-58501015 + Au8 COSM5606661 c.262C>T p.L88L Substitution - coding silent 3:58501180-58501180 + TCGA-CG-4442-01 COSM4119678 c.239C>T p.P80L Substitution - Missense 3:58501157-58501157 + 2492711 COSM5606661 c.262C>T p.L88L Substitution - coding silent 3:58501180-58501180 + PT49 COSM5934775 c.299C>T p.P100L Substitution - Missense 3:58501217-58501217 + TCGA-AX-A0J1-01 COSM1047805 c.118G>A p.A40T Substitution - Missense 3:58501036-58501036 + SC_9008 COSM5551895 c.708C>T p.D236D Substitution - coding silent 3:58501626-58501626 + HCC58T COSM3660681 c.117A>G p.G39G Substitution - coding silent 3:58501035-58501035 + TCGA-AA-A022-01 COSM1424979 c.126_127insG p.D45fs*15 Insertion - Frameshift 3:58501044-58501045 + TCGA-EE-A2MR-06 COSM3596874 c.452C>T p.S151F Substitution - Missense 3:58501370-58501370 + PCSI_0132_Pa_P_526 COSM4965491 c.172A>T p.I58F Substitution - Missense 3:58501090-58501090 + TCGA-33-4582-01 COSM731787 c.319G>A p.D107N Substitution - Missense 3:58501237-58501237 + HCC58 COSM3660681 c.117A>G p.G39G Substitution - coding silent 3:58501035-58501035 + 169 COSM3728759 c.226G>T p.E76* Substitution - Nonsense 3:58501144-58501144 + HCC084T COSM5822318 c.282T>G p.D94E Substitution - Missense 3:58501200-58501200 + HCC2998 COSM174574 c.566C>A p.S189Y Substitution - Missense 3:58501484-58501484 + Pat_05_A COSM5865173 c.127delG p.D45fs*28 Deletion - Frameshift 3:58501045-58501045 + TCGA-B5-A11E-01 COSM1047807 c.240G>A p.P80P Substitution - coding silent 3:58501158-58501158 + 587332 COSM1211693 c.268C>T p.R90W Substitution - Missense 3:58501186-58501186 + DLD1 COSM4625173 c.360T>C p.V120V Substitution - coding silent 3:58501278-58501278 + 2492714 COSM5606661 c.262C>T p.L88L Substitution - coding silent 3:58501180-58501180 + LIM1899 COSM4640557 c.109A>G p.M37V Substitution - Missense 3:58501027-58501027 + TCGA-D1-A103-01 COSM1047808 c.689G>T p.R230M Substitution - Missense 3:58501607-58501607 + 587256 COSM1211694 c.561A>C p.E187D Substitution - Missense 3:58501479-58501479 + TCGA-FD-A3SS-01 COSM3775314 c.157C>T p.Q53* Substitution - Nonsense 3:58501075-58501075 + Gp2D COSM1424979 c.126_127insG p.D45fs*15 Insertion - Frameshift 3:58501044-58501045 + TCGA-AA-3713-01 COSM1424979 c.126_127insG p.D45fs*15 Insertion - Frameshift 3:58501044-58501045 + DLD1 COSM4625172 c.306T>C p.I102I Substitution - coding silent 3:58501224-58501224 + HCC2998 COSM174574 c.566C>A p.S189Y Substitution - Missense 3:58501484-58501484 + 96T COSM110345 c.611C>T p.T204M Substitution - Missense 3:58501529-58501529 + TCGA-AA-3672-01 COSM266750 c.684C>A p.F228L Substitution - Missense 3:58501602-58501602 + TCGA-HF-7133-01 COSM4119679 c.417C>T p.I139I Substitution - coding silent 3:58501335-58501335 + CSCC-11-T COSM4556660 c.699G>A p.R233R Substitution - coding silent 3:58501617-58501617 + 234 COSM3730888 c.380G>A p.R127Q Substitution - Missense 3:58501298-58501298 + TCGA-EE-A2MT-06 COSM3596871 c.181G>A p.D61N Substitution - Missense 3:58501099-58501099 + TCGA-F5-6814-01 COSM3427818 c.355G>T p.E119* Substitution - Nonsense 3:58501273-58501273 + TCGA-GN-A26C-01 COSM3596873 c.270G>A p.R90R Substitution - coding silent 3:58501188-58501188 + RK177_C01 COSM1633291 c.529T>A p.F177I Substitution - Missense 3:58501447-58501447 + L17 COSM5369264 c.149G>A p.R50Q Substitution - Missense 3:58501067-58501067 + RK177_C01 COSM1633292 c.537T>C p.F179F Substitution - coding silent 3:58501455-58501455 + 2492713 COSM5606661 c.262C>T p.L88L Substitution - coding silent 3:58501180-58501180 + TCGA-EE-A2MJ-06 COSM3596872 c.196C>T p.R66* Substitution - Nonsense 3:58501114-58501114 + TCGA-D1-A17F-01 COSM1047806 c.162C>T p.G54G Substitution - coding silent 3:58501080-58501080 + 2492712 COSM5606661 c.262C>T p.L88L Substitution - coding silent 3:58501180-58501180 + C608 COSM4442967 c.74C>T p.T25M Substitution - Missense 3:58500992-58500992 + SC_9081 COSM5566264 c.148C>T p.R50* Substitution - Nonsense 3:58501066-58501066 + PTC-14C COSM4158271 c.698G>T p.R233L Substitution - Missense 3:58501616-58501616 + RMS66_ COSM4988011 c.293T>A p.I98N Substitution - Missense 3:58501211-58501211 + Gp5D COSM1424979 c.126_127insG p.D45fs*15 Insertion - Frameshift 3:58501044-58501045 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.13969;Hs.13982 3p14.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.711+499A>C 3 58487855 HC C T Missense p.T204M c.611C>T 3 58487256 BRCA C T Nonsense p.R66* c.196C>T 3 58486841 CM C T Synonymous p.G54G c.162C>T 3 58486807 UCEC G A Missense p.D107N c.319G>A 3 58486964 LUSC G A Missense p.D61N c.181G>A 3 58486826 CM G A Synonymous p.R90R c.270G>A 3 58486915 CM GG AA Missense p.G39K c.115_116delinsAA 3 58486760 CM