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 17 18927599 18927599 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 g.chr17:18927599C>T c.397G>A c.(397-399)Gac>Aac p.D133N COAD 17 18927546 18927546 + Silent SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr17:18927546G>A c.450C>T c.(448-450)gaC>gaT p.D150D COADREAD 17 18927546 18927546 + Silent SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr17:18927546G>A c.450C>T c.(448-450)gaC>gaT p.D150D ESCA 17 18925357 18925357 + Missense_Mutation SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 g.chr17:18925357C>T c.569G>A c.(568-570)cGc>cAc p.R190H GBMLGG 17 18925335 18925335 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:18925335C>T c.591G>A c.(589-591)cgG>cgA p.R197R GBMLGG 17 18927576 18927576 + Silent SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 g.chr17:18927576G>A c.420C>T c.(418-420)atC>atT p.I140I LGG 17 18925335 18925335 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:18925335C>T c.591G>A c.(589-591)cgG>cgA p.R197R LGG 17 18927576 18927576 + Silent SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 g.chr17:18927576G>A c.420C>T c.(418-420)atC>atT p.I140I LUAD 17 18925292 18925292 + Missense_Mutation SNP C C A TCGA-97-A4M7-01A-11D-A24P-08 TCGA-97-A4M7-10A-01D-A24P-08 g.chr17:18925292C>A c.634G>T c.(634-636)Gtg>Ttg p.V212L LUAD 17 18927649 18927649 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr17:18927649C>T c.347G>A c.(346-348)gGg>gAg p.G116E PAAD 17 18925281 18925281 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:18925281C>T c.645G>A c.(643-645)gtG>gtA p.V215V SKCM 17 18925352 18925352 + Missense_Mutation SNP C C T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr17:18925352C>T c.574G>A c.(574-576)Gac>Aac p.D192N SKCM 17 18927554 18927554 + Silent SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr17:18927554G>A c.442C>T c.(442-444)Ctg>Ttg p.L148L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 17 18923029 18923029 single base substitution G T downstream_gene_variant BRCA-EU 17 18920953 18920953 single base substitution C T downstream_gene_variant BRCA-EU 17 18921577 18921577 single base substitution G T downstream_gene_variant BRCA-EU 17 18922814 18922814 single base substitution C A downstream_gene_variant BRCA-EU 17 18922887 18922887 single base substitution C T downstream_gene_variant BRCA-EU 17 18924661 18924661 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 18924661 18924661 single base substitution C G downstream_gene_variant BRCA-EU 17 18925936 18925936 single base substitution C A intron_variant BRCA-EU 17 18928950 18928950 single base substitution T G intron_variant BRCA-EU 17 18930659 18930659 single base substitution G A intron_variant BRCA-EU 17 18933600 18933600 single base substitution G C intron_variant BRCA-EU 17 18944680 18944680 single base substitution C T intron_variant BRCA-EU 17 18950934 18950934 single base substitution A C 5_prime_UTR_variant BRCA-EU 17 18950934 18950934 single base substitution A C upstream_gene_variant BRCA-EU 17 18953146 18953146 single base substitution T C upstream_gene_variant BRCA-EU 17 18953175 18953175 single base substitution G C upstream_gene_variant BRCA-FR 17 18920953 18920953 single base substitution C T downstream_gene_variant BRCA-FR 17 18922814 18922814 single base substitution C A downstream_gene_variant BRCA-FR 17 18953175 18953175 single base substitution G C upstream_gene_variant BRCA-FR 17 18953448 18953448 single base substitution A C upstream_gene_variant BRCA-US 17 18922757 18922757 single base substitution C T downstream_gene_variant BRCA-US 17 18922811 18922811 single base substitution C T downstream_gene_variant CLLE-ES 17 18921766 18921766 single base substitution G T downstream_gene_variant CLLE-ES 17 18925337 18925337 single base substitution G A 3_prime_UTR_variant CLLE-ES 17 18925337 18925337 single base substitution G A missense_variant R168W 502C>T CLLE-ES 17 18925337 18925337 single base substitution G A missense_variant R197W 589C>T CLLE-ES 17 18925337 18925337 single base substitution G A synonymous_variant G140G 420C>T CLLE-ES 17 18927396 18927396 single base substitution G A intron_variant COAD-US 17 18922781 18922781 single base substitution C T downstream_gene_variant COAD-US 17 18923700 18923700 single base substitution C A downstream_gene_variant COCA-CN 17 18920782 18920782 single base substitution G T downstream_gene_variant COCA-CN 17 18923105 18923105 single base substitution C T downstream_gene_variant COCA-CN 17 18927379 18927379 single base substitution C T intron_variant COCA-CN 17 18928450 18928450 single base substitution G A intron_variant ESAD-UK 17 18921838 18921838 single base substitution G A downstream_gene_variant ESAD-UK 17 18922761 18922761 single base substitution G T downstream_gene_variant ESAD-UK 17 18923071 18923071 single base substitution A C downstream_gene_variant ESAD-UK 17 18924412 18924412 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 18924412 18924412 single base substitution C T downstream_gene_variant ESAD-UK 17 18924810 18924810 single base substitution C A 3_prime_UTR_variant ESAD-UK 17 18924810 18924810 single base substitution C A downstream_gene_variant ESAD-UK 17 18925401 18925401 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 18925401 18925401 single base substitution C T missense_variant R119H 356G>A ESAD-UK 17 18925401 18925401 single base substitution C T synonymous_variant S146S 438G>A ESAD-UK 17 18925401 18925401 single base substitution C T synonymous_variant S175S 525G>A ESAD-UK 17 18928180 18928180 single base substitution A G intron_variant ESCA-CN 17 18925402 18925402 single base substitution G A 3_prime_UTR_variant ESCA-CN 17 18925402 18925402 single base substitution G A missense_variant R119C 355C>T ESCA-CN 17 18925402 18925402 single base substitution G A missense_variant S146L 437C>T ESCA-CN 17 18925402 18925402 single base substitution G A missense_variant S175L 524C>T LAML-KR 17 18928950 18928950 single base substitution T G intron_variant LAML-KR 17 18931218 18931218 single base substitution G A intron_variant LGG-US 17 18927576 18927576 single base substitution G A 3_prime_UTR_variant LGG-US 17 18927576 18927576 single base substitution G A intron_variant LGG-US 17 18927576 18927576 single base substitution G A synonymous_variant I111I 333C>T LGG-US 17 18927576 18927576 single base substitution G A synonymous_variant I140I 420C>T LINC-JP 17 18920775 18920775 single base substitution G A downstream_gene_variant LINC-JP 17 18923772 18923772 single base substitution A T downstream_gene_variant LINC-JP 17 18928027 18928027 single base substitution A G intron_variant LIRI-JP 17 18920327 18920327 single base substitution T C downstream_gene_variant LIRI-JP 17 18922490 18922490 single base substitution G A downstream_gene_variant LIRI-JP 17 18922757 18922757 single base substitution C A downstream_gene_variant LIRI-JP 17 18924723 18924723 single base substitution C T 3_prime_UTR_variant LIRI-JP 17 18924723 18924723 single base substitution C T downstream_gene_variant LIRI-JP 17 18927396 18927396 single base substitution G A intron_variant LUSC-KR 17 18919353 18919353 single base substitution A T downstream_gene_variant LUSC-KR 17 18920563 18920563 single base substitution G T downstream_gene_variant LUSC-KR 17 18922124 18922124 single base substitution G T downstream_gene_variant LUSC-KR 17 18924526 18924526 single base substitution G A 3_prime_UTR_variant LUSC-KR 17 18924526 18924526 single base substitution G A downstream_gene_variant LUSC-KR 17 18928285 18928285 single base substitution T C intron_variant LUSC-KR 17 18928450 18928450 single base substitution G A intron_variant LUSC-KR 17 18928950 18928950 single base substitution T G intron_variant LUSC-KR 17 18930797 18930797 single base substitution G A intron_variant LUSC-KR 17 18934819 18934819 single base substitution C A downstream_gene_variant LUSC-KR 17 18934819 18934819 single base substitution C A intron_variant LUSC-KR 17 18946774 18946774 single base substitution C A intron_variant LUSC-KR 17 18946774 18946774 single base substitution C A upstream_gene_variant LUSC-KR 17 18951491 18951491 single base substitution A G upstream_gene_variant LUSC-KR 17 18952917 18952917 single base substitution T C upstream_gene_variant MALY-DE 17 18925880 18925880 single base substitution C G intron_variant MALY-DE 17 18933310 18933310 insertion of <=200bp - TG intron_variant MELA-AU 17 18919038 18919038 single base substitution C T downstream_gene_variant MELA-AU 17 18919073 18919073 single base substitution C T downstream_gene_variant MELA-AU 17 18919074 18919074 single base substitution C T downstream_gene_variant MELA-AU 17 18919827 18919827 single base substitution G A downstream_gene_variant MELA-AU 17 18919909 18919909 single base substitution C T downstream_gene_variant MELA-AU 17 18920039 18920039 single base substitution C T downstream_gene_variant MELA-AU 17 18920392 18920392 single base substitution C T downstream_gene_variant MELA-AU 17 18921330 18921330 single base substitution G A downstream_gene_variant MELA-AU 17 18921437 18921437 single base substitution C T downstream_gene_variant MELA-AU 17 18921456 18921456 single base substitution A T downstream_gene_variant MELA-AU 17 18921582 18921582 single base substitution G A downstream_gene_variant MELA-AU 17 18921644 18921644 single base substitution C A downstream_gene_variant MELA-AU 17 18921763 18921763 single base substitution C T downstream_gene_variant MELA-AU 17 18922130 18922130 single base substitution C T downstream_gene_variant MELA-AU 17 18922263 18922263 single base substitution C T downstream_gene_variant MELA-AU 17 18922494 18922494 single base substitution G A downstream_gene_variant MELA-AU 17 18922796 18922796 single base substitution C T downstream_gene_variant MELA-AU 17 18923013 18923013 single base substitution C T downstream_gene_variant MELA-AU 17 18923393 18923393 single base substitution A G downstream_gene_variant MELA-AU 17 18923631 18923631 single base substitution C T downstream_gene_variant MELA-AU 17 18923669 18923669 single base substitution C T downstream_gene_variant MELA-AU 17 18923984 18923993 deletion of <=200bp GATTTCTGAC - 3_prime_UTR_variant MELA-AU 17 18923984 18923993 deletion of <=200bp GATTTCTGAC - downstream_gene_variant MELA-AU 17 18923984 18923993 deletion of <=200bp GATTTCTGAC - intragenic_variant MELA-AU 17 18924180 18924180 single base substitution C T 3_prime_UTR_variant MELA-AU 17 18924180 18924180 single base substitution C T downstream_gene_variant MELA-AU 17 18924226 18924226 single base substitution C T 3_prime_UTR_variant MELA-AU 17 18924226 18924226 single base substitution C T downstream_gene_variant MELA-AU 17 18924344 18924344 single base substitution C T 3_prime_UTR_variant MELA-AU 17 18924344 18924344 single base substitution C T downstream_gene_variant MELA-AU 17 18924574 18924574 single base substitution G A 3_prime_UTR_variant MELA-AU 17 18924574 18924574 single base substitution G A downstream_gene_variant MELA-AU 17 18924577 18924577 single base substitution C T 3_prime_UTR_variant MELA-AU 17 18924577 18924577 single base substitution C T downstream_gene_variant MELA-AU 17 18924826 18924826 single base substitution A G 3_prime_UTR_variant MELA-AU 17 18924826 18924826 single base substitution A G downstream_gene_variant MELA-AU 17 18925008 18925009 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 17 18925008 18925009 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 18925028 18925028 single base substitution G A 3_prime_UTR_variant MELA-AU 17 18925028 18925028 single base substitution G A downstream_gene_variant MELA-AU 17 18925284 18925284 single base substitution G A 3_prime_UTR_variant MELA-AU 17 18925284 18925284 single base substitution G A missense_variant P158L 473C>T MELA-AU 17 18925284 18925284 single base substitution G A synonymous_variant P185P 555C>T MELA-AU 17 18925284 18925284 single base substitution G A synonymous_variant P214P 642C>T MELA-AU 17 18925489 18925489 single base substitution C T intron_variant MELA-AU 17 18925688 18925688 single base substitution C T intron_variant MELA-AU 17 18925782 18925782 single base substitution G A intron_variant MELA-AU 17 18925924 18925924 single base substitution G A intron_variant MELA-AU 17 18926001 18926001 single base substitution C T intron_variant MELA-AU 17 18926434 18926434 single base substitution G A intron_variant MELA-AU 17 18926826 18926826 single base substitution A G intron_variant MELA-AU 17 18927256 18927256 single base substitution G A intron_variant MELA-AU 17 18927297 18927297 single base substitution C T intron_variant MELA-AU 17 18927410 18927410 single base substitution C T intron_variant MELA-AU 17 18927466 18927466 single base substitution C T intron_variant MELA-AU 17 18927514 18927514 single base substitution C T intron_variant MELA-AU 17 18927548 18927548 single base substitution C T 3_prime_UTR_variant MELA-AU 17 18927548 18927548 single base substitution C T intron_variant MELA-AU 17 18927548 18927548 single base substitution C T missense_variant D121N 361G>A MELA-AU 17 18927548 18927548 single base substitution C T missense_variant D150N 448G>A MELA-AU 17 18927708 18927708 single base substitution G A intron_variant MELA-AU 17 18927733 18927733 single base substitution C T intron_variant MELA-AU 17 18928163 18928163 single base substitution C T intron_variant MELA-AU 17 18928256 18928256 single base substitution C T intron_variant MELA-AU 17 18928951 18928951 single base substitution A G intron_variant MELA-AU 17 18928962 18928962 single base substitution G T intron_variant MELA-AU 17 18928966 18928967 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 18930799 18930799 single base substitution A G intron_variant MELA-AU 17 18931347 18931347 single base substitution A C intron_variant MELA-AU 17 18933535 18933535 single base substitution C T intron_variant MELA-AU 17 18934767 18934767 single base substitution C T downstream_gene_variant MELA-AU 17 18934767 18934767 single base substitution C T intron_variant MELA-AU 17 18934834 18934834 single base substitution G T downstream_gene_variant MELA-AU 17 18934834 18934834 single base substitution G T intron_variant MELA-AU 17 18935230 18935231 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 17 18935230 18935231 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 17 18944140 18944140 single base substitution G A intron_variant MELA-AU 17 18944181 18944181 single base substitution C T intron_variant MELA-AU 17 18944639 18944639 single base substitution C T intron_variant MELA-AU 17 18944680 18944680 single base substitution C T intron_variant MELA-AU 17 18944705 18944705 single base substitution C T intron_variant MELA-AU 17 18945380 18945380 single base substitution C T intron_variant MELA-AU 17 18945426 18945426 single base substitution C T intron_variant MELA-AU 17 18946843 18946843 single base substitution G C intron_variant MELA-AU 17 18946843 18946843 single base substitution G C upstream_gene_variant ORCA-IN 17 18922175 18922175 single base substitution C T downstream_gene_variant OV-AU 17 18921022 18921022 single base substitution C G downstream_gene_variant OV-AU 17 18921984 18921984 single base substitution G A downstream_gene_variant PACA-AU 17 18921182 18921198 deletion of <=200bp CCTCTGGGTTTGGGGGT - downstream_gene_variant PACA-AU 17 18922729 18922729 single base substitution C T downstream_gene_variant PACA-AU 17 18925598 18925598 single base substitution C G intron_variant PACA-AU 17 18947279 18947279 single base substitution T C intron_variant PACA-AU 17 18947279 18947279 single base substitution T C upstream_gene_variant PACA-AU 17 18951035 18951035 single base substitution C G upstream_gene_variant PACA-CA 17 18921983 18921983 single base substitution G A downstream_gene_variant PACA-CA 17 18922775 18922775 single base substitution G C downstream_gene_variant PACA-CA 17 18930785 18930785 single base substitution G A intron_variant PACA-CA 17 18944709 18944709 single base substitution G T intron_variant PBCA-DE 17 18921383 18921383 single base substitution T C downstream_gene_variant PRAD-UK 17 18947195 18947195 single base substitution C A intron_variant PRAD-UK 17 18947195 18947195 single base substitution C A upstream_gene_variant PRAD-UK 17 18954611 18954611 single base substitution G A upstream_gene_variant PRAD-US 17 18923109 18923109 single base substitution C T downstream_gene_variant SKCA-BR 17 18920566 18920566 single base substitution T G downstream_gene_variant SKCA-BR 17 18921607 18921607 single base substitution G A downstream_gene_variant SKCA-BR 17 18921662 18921662 single base substitution C T downstream_gene_variant SKCA-BR 17 18922842 18922842 single base substitution C T downstream_gene_variant SKCA-BR 17 18922970 18922970 single base substitution G C downstream_gene_variant SKCA-BR 17 18923441 18923441 single base substitution A C downstream_gene_variant SKCA-BR 17 18927996 18927996 single base substitution T C intron_variant SKCA-BR 17 18928949 18928949 single base substitution G A intron_variant SKCA-BR 17 18930795 18930795 insertion of <=200bp - GCA intron_variant SKCA-BR 17 18930797 18930797 insertion of <=200bp - GCACA intron_variant SKCA-BR 17 18933543 18933546 deletion of <=200bp GGCA - intron_variant SKCA-BR 17 18945326 18945326 single base substitution C T intron_variant SKCA-BR 17 18954245 18954245 single base substitution C T upstream_gene_variant SKCM-US 17 18923082 18923082 single base substitution G A downstream_gene_variant SKCM-US 17 18923089 18923089 single base substitution C T downstream_gene_variant SKCM-US 17 18923163 18923163 single base substitution C T downstream_gene_variant SKCM-US 17 18923669 18923669 single base substitution C T downstream_gene_variant SKCM-US 17 18923740 18923740 single base substitution C T downstream_gene_variant SKCM-US 17 18925352 18925352 single base substitution C T 3_prime_UTR_variant SKCM-US 17 18925352 18925352 single base substitution C T missense_variant D163N 487G>A SKCM-US 17 18925352 18925352 single base substitution C T missense_variant D192N 574G>A SKCM-US 17 18925352 18925352 single base substitution C T synonymous_variant Q135Q 405G>A STAD-US 17 18922781 18922781 single base substitution C T downstream_gene_variant STAD-US 17 18923170 18923170 single base substitution G A downstream_gene_variant STAD-US 17 18923663 18923663 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand YUBER COSM1709996 c.346G>A p.G116R Substitution - Missense 17:19024337-19024337 - 115-1917-01TD COSM5418574 c.589C>T p.R197W Substitution - Missense 17:19022024-19022024 - T1760 COSM4688398 c.535T>C p.F179L Substitution - Missense 17:19022078-19022078 - CSCC-7-T COSM4544784 c.363G>A p.W121* Substitution - Nonsense 17:19024320-19024320 - CSCC-55-T COSM4490095 c.357C>T p.F119F Substitution - coding silent 17:19024326-19024326 - CSCC-16-T COSM4554669 c.627G>A p.R209R Substitution - coding silent 17:19021986-19021986 - YULONE COSM5385834 c.626G>A p.R209Q Substitution - Missense 17:19021987-19021987 - ZZUFHECRKL-G014T COSM5437448 c.524C>T p.S175L Substitution - Missense 17:19022089-19022089 - S01516 COSM5669045 c.574G>T p.D192Y Substitution - Missense 17:19022039-19022039 - TCGA-BT-A20T-01 COSM417155 c.397G>A p.D133N Substitution - Missense 17:19024286-19024286 - T3091 COSM4688397 c.569G>A p.R190H Substitution - Missense 17:19022044-19022044 - TCGA-HT-7860-01 COSM3969871 c.420C>T p.I140I Substitution - coding silent 17:19024263-19024263 - TCGA-ER-A19G-06 COSM3515019 c.574G>A p.D192N Substitution - Missense 17:19022039-19022039 - 587342 COSM1208831 c.344C>T p.S115L Substitution - Missense 17:19024339-19024339 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.567416 17p11.2 604330

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C T Missense p.D133N c.397G>A 17 18927599 BLCA C T Missense p.D192N c.574G>A 17 18925352 CM