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 33902844 33902844 + Missense_Mutation SNP G G T TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr17:33902844G>T c.1037C>A c.(1036-1038)aCa>aAa p.T346K BLCA 17 33902981 33902981 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 g.chr17:33902981C>T c.900G>A c.(898-900)atG>atA p.M300I BLCA 17 33902993 33902993 + Silent SNP G G C TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr17:33902993G>C c.888C>G c.(886-888)ctC>ctG p.L296L BLCA 17 33903110 33903110 + Silent SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 g.chr17:33903110G>A c.771C>T c.(769-771)ttC>ttT p.F257F BLCA 17 33903113 33903113 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr17:33903113G>C c.768C>G c.(766-768)ttC>ttG p.F256L BLCA 17 33904291 33904291 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr17:33904291G>C c.446C>G c.(445-447)tCt>tGt p.S149C BLCA 17 33904370 33904370 + Missense_Mutation SNP G G A TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr17:33904370G>A c.367C>T c.(367-369)Ctt>Ttt p.L123F BLCA 17 33904532 33904532 + Silent SNP G G A TCGA-FD-A6TK-01A-42D-A339-08 TCGA-FD-A6TK-10A-21D-A339-08 g.chr17:33904532G>A c.205C>T c.(205-207)Ctg>Ttg p.L69L CESC 17 33904559 33904559 + Missense_Mutation SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 g.chr17:33904559C>G c.178G>C c.(178-180)Gat>Cat p.D60H COAD 17 33903059 33903059 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:33903059C>A c.822G>T c.(820-822)aaG>aaT p.K274N COAD 17 33903068 33903068 + Missense_Mutation SNP T T G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:33903068T>G c.813A>C c.(811-813)gaA>gaC p.E271D COAD 17 33903143 33903143 + Silent SNP G G T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr17:33903143G>T c.738C>A c.(736-738)tcC>tcA p.S246S COAD 17 33904198 33904198 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr17:33904198C>T c.539G>A c.(538-540)cGa>cAa p.R180Q COAD 17 33904385 33904385 + Missense_Mutation SNP T T C TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr17:33904385T>C c.352A>G c.(352-354)Atg>Gtg p.M118V COAD 17 33904946 33904946 + Missense_Mutation SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr17:33904946G>A c.95C>T c.(94-96)gCa>gTa p.A32V COADREAD 17 33903059 33903059 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:33903059C>A c.822G>T c.(820-822)aaG>aaT p.K274N COADREAD 17 33903068 33903068 + Missense_Mutation SNP T T G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:33903068T>G c.813A>C c.(811-813)gaA>gaC p.E271D COADREAD 17 33903143 33903143 + Silent SNP G G T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr17:33903143G>T c.738C>A c.(736-738)tcC>tcA p.S246S COADREAD 17 33904198 33904198 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr17:33904198C>T c.539G>A c.(538-540)cGa>cAa p.R180Q COADREAD 17 33904198 33904198 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:33904198C>T c.539G>A c.(538-540)cGa>cAa p.R180Q COADREAD 17 33904385 33904385 + Missense_Mutation SNP T T C TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr17:33904385T>C c.352A>G c.(352-354)Atg>Gtg p.M118V COADREAD 17 33904465 33904465 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:33904465C>A c.272G>T c.(271-273)aGa>aTa p.R91I COADREAD 17 33904946 33904946 + Missense_Mutation SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr17:33904946G>A c.95C>T c.(94-96)gCa>gTa p.A32V GBM 17 33904178 33904178 + Nonsense_Mutation SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 g.chr17:33904178G>A c.559C>T c.(559-561)Cag>Tag p.Q187* GBM 17 33904306 33904306 + Missense_Mutation SNP G G C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 g.chr17:33904306G>C c.431C>G c.(430-432)tCt>tGt p.S144C GBMLGG 17 33904178 33904178 + Nonsense_Mutation SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 g.chr17:33904178G>A c.559C>T c.(559-561)Cag>Tag p.Q187* GBMLGG 17 33904225 33904225 + Missense_Mutation SNP T T A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:33904225T>A c.512A>T c.(511-513)gAa>gTa p.E171V GBMLGG 17 33904306 33904306 + Missense_Mutation SNP G G C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 g.chr17:33904306G>C c.431C>G c.(430-432)tCt>tGt p.S144C HNSC 17 33903191 33903191 + Missense_Mutation SNP C C A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 g.chr17:33903191C>A c.690G>T c.(688-690)gaG>gaT p.E230D HNSC 17 33904241 33904241 + Missense_Mutation SNP C C A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 g.chr17:33904241C>A c.496G>T c.(496-498)Gtg>Ttg p.V166L KIPAN 17 33903054 33903054 + Missense_Mutation SNP A A G TCGA-UZ-A9PR-01A-11D-A42J-10 TCGA-UZ-A9PR-10A-01D-A42M-10 g.chr17:33903054A>G c.827T>C c.(826-828)tTg>tCg p.L276S KIPAN 17 33904058 33904058 + Splice_Site DEL T T - TCGA-GL-A9DE-01A-11D-A36X-10 TCGA-GL-A9DE-10A-01D-A370-10 g.chr17:33904058delT c.679delA c.(679-681)agt>gt p.S227fs KIPAN 17 33904061 33904062 + Missense_Mutation DNP TG TG CA TCGA-GL-A9DE-01A-11D-A36X-10 TCGA-GL-A9DE-10A-01D-A370-10 g.chr17:33904061_33904062TG>CA c.675_676CA>TG c.(673-678)gcCAgg>gcTGgg p.R226G KIPAN 17 33904481 33904481 + Missense_Mutation SNP A A C TCGA-B1-A47M-01A-11D-A25F-10 TCGA-B1-A47M-10A-01D-A25F-10 g.chr17:33904481A>C c.256T>G c.(256-258)Ttt>Gtt p.F86V KIRP 17 33903054 33903054 + Missense_Mutation SNP A A G TCGA-UZ-A9PR-01A-11D-A42J-10 TCGA-UZ-A9PR-10A-01D-A42M-10 g.chr17:33903054A>G c.827T>C c.(826-828)tTg>tCg p.L276S KIRP 17 33904058 33904058 + Splice_Site DEL T T - TCGA-GL-A9DE-01A-11D-A36X-10 TCGA-GL-A9DE-10A-01D-A370-10 g.chr17:33904058delT c.679delA c.(679-681)agt>gt p.S227fs KIRP 17 33904061 33904062 + Missense_Mutation DNP TG TG CA TCGA-GL-A9DE-01A-11D-A36X-10 TCGA-GL-A9DE-10A-01D-A370-10 g.chr17:33904061_33904062TG>CA c.675_676CA>TG c.(673-678)gcCAgg>gcTGgg p.R226G KIRP 17 33904481 33904481 + Missense_Mutation SNP A A C TCGA-B1-A47M-01A-11D-A25F-10 TCGA-B1-A47M-10A-01D-A25F-10 g.chr17:33904481A>C c.256T>G c.(256-258)Ttt>Gtt p.F86V LGG 17 33904225 33904225 + Missense_Mutation SNP T T A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:33904225T>A c.512A>T c.(511-513)gAa>gTa p.E171V LUAD 17 33903138 33903138 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr17:33903138G>C c.743C>G c.(742-744)tCt>tGt p.S248C LUAD 17 33904285 33904285 + Missense_Mutation SNP C C T TCGA-97-A4M7-01A-11D-A24P-08 TCGA-97-A4M7-10A-01D-A24P-08 g.chr17:33904285C>T c.452G>A c.(451-453)cGc>cAc p.R151H LUAD 17 33904426 33904426 + Missense_Mutation SNP G G C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 g.chr17:33904426G>C c.311C>G c.(310-312)gCt>gGt p.A104G LUSC 17 33902880 33902880 + Missense_Mutation SNP C C A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 g.chr17:33902880C>A c.1001G>T c.(1000-1002)aGg>aTg p.R334M LUSC 17 33904106 33904106 + Missense_Mutation SNP G G C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 g.chr17:33904106G>C c.631C>G c.(631-633)Ctg>Gtg p.L211V LUSC 17 33904306 33904306 + Missense_Mutation SNP G G C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 g.chr17:33904306G>C c.431C>G c.(430-432)tCt>tGt p.S144C LUSC 17 33904432 33904432 + Missense_Mutation SNP C C A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 g.chr17:33904432C>A c.305G>T c.(304-306)aGa>aTa p.R102I OV 17 33904543 33904543 + Missense_Mutation SNP A A G TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 g.chr17:33904543A>G c.194T>C c.(193-195)cTg>cCg p.L65P PAAD 17 33902992 33902993 + Frame_Shift_Del DEL AG AG - TCGA-OE-A75W-01A-12D-A32N-08 TCGA-OE-A75W-10A-01D-A32N-08 g.chr17:33902992_33902993delAG c.888_889delCT c.(886-891)ctcttafs p.LL296fs PAAD 17 33904391 33904391 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:33904391A>G c.346T>C c.(346-348)Tct>Cct p.S116P PAAD 17 33904476 33904476 + Silent SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 g.chr17:33904476G>A c.261C>T c.(259-261)taC>taT p.Y87Y PRAD 17 33903106 33903107 + Frame_Shift_Ins INS - - C TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 g.chr17:33903106_33903107insC c.774_775insG c.(772-777)ttgcagfs p.Q259fs READ 17 33904198 33904198 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:33904198C>T c.539G>A c.(538-540)cGa>cAa p.R180Q READ 17 33904465 33904465 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:33904465C>A c.272G>T c.(271-273)aGa>aTa p.R91I SKCM 17 33904921 33904921 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr17:33904921C>T c.120G>A c.(118-120)gtG>gtA p.V40V SKCM 17 33904984 33904984 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr17:33904984G>A c.57C>T c.(55-57)tcC>tcT p.S19S SKCM 17 33904985 33904985 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr17:33904985G>A c.56C>T c.(55-57)tCc>tTc p.S19F

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 17 33902981 33902981 single base substitution C T downstream_gene_variant BLCA-US 17 33902981 33902981 single base substitution C T exon_variant BLCA-US 17 33902981 33902981 single base substitution C T missense_variant M300I 900G>A BLCA-US 17 33903110 33903110 single base substitution G A downstream_gene_variant BLCA-US 17 33903110 33903110 single base substitution G A exon_variant BLCA-US 17 33903110 33903110 single base substitution G A synonymous_variant F257F 771C>T BLCA-US 17 33903113 33903113 single base substitution G C downstream_gene_variant BLCA-US 17 33903113 33903113 single base substitution G C exon_variant BLCA-US 17 33903113 33903113 single base substitution G C missense_variant F256L 768C>G BRCA-EU 17 33897005 33897005 single base substitution G A downstream_gene_variant BRCA-EU 17 33900450 33900450 single base substitution G A downstream_gene_variant BRCA-EU 17 33903138 33903138 single base substitution G C downstream_gene_variant BRCA-EU 17 33903138 33903138 single base substitution G C exon_variant BRCA-EU 17 33903138 33903138 single base substitution G C missense_variant S248C 743C>G BRCA-EU 17 33903876 33903876 single base substitution A T downstream_gene_variant BRCA-EU 17 33903876 33903876 single base substitution A T intron_variant BRCA-EU 17 33905806 33905806 single base substitution C T 5_prime_UTR_variant BRCA-EU 17 33905806 33905806 single base substitution C T upstream_gene_variant BRCA-EU 17 33905920 33905920 single base substitution C T upstream_gene_variant BRCA-EU 17 33906661 33906661 single base substitution G C upstream_gene_variant BRCA-EU 17 33907404 33907404 single base substitution A G upstream_gene_variant BRCA-EU 17 33909791 33909791 single base substitution A G upstream_gene_variant BRCA-FR 17 33905920 33905920 single base substitution C T upstream_gene_variant BRCA-UK 17 33899641 33899641 single base substitution G A downstream_gene_variant BRCA-UK 17 33903355 33903355 single base substitution C G downstream_gene_variant BRCA-UK 17 33903355 33903355 single base substitution C G intron_variant CESC-US 17 33904559 33904559 single base substitution C G exon_variant CESC-US 17 33904559 33904559 single base substitution C G missense_variant D60H 178G>C CLLE-ES 17 33904915 33904915 single base substitution C G missense_variant K42N 126G>C CLLE-ES 17 33904915 33904915 single base substitution C G splice_region_variant COAD-US 17 33903059 33903059 single base substitution C A downstream_gene_variant COAD-US 17 33903059 33903059 single base substitution C A exon_variant COAD-US 17 33903059 33903059 single base substitution C A missense_variant K274N 822G>T COAD-US 17 33903143 33903143 single base substitution G T downstream_gene_variant COAD-US 17 33903143 33903143 single base substitution G T exon_variant COAD-US 17 33903143 33903143 single base substitution G T synonymous_variant S246S 738C>A COAD-US 17 33904198 33904198 single base substitution C T exon_variant COAD-US 17 33904198 33904198 single base substitution C T missense_variant R180Q 539G>A COCA-CN 17 33902763 33902763 single base substitution G A 3_prime_UTR_variant COCA-CN 17 33902763 33902763 single base substitution G A downstream_gene_variant COCA-CN 17 33903019 33903019 single base substitution G T downstream_gene_variant COCA-CN 17 33903019 33903019 single base substitution G T exon_variant COCA-CN 17 33903019 33903019 single base substitution G T missense_variant L288I 862C>A COCA-CN 17 33904276 33904276 single base substitution C T exon_variant COCA-CN 17 33904276 33904276 single base substitution C T missense_variant R154Q 461G>A COCA-CN 17 33904465 33904465 single base substitution C A exon_variant COCA-CN 17 33904465 33904465 single base substitution C A missense_variant R91I 272G>T ESAD-UK 17 33899451 33899451 single base substitution A G downstream_gene_variant ESAD-UK 17 33902284 33902284 insertion of <=200bp - C 3_prime_UTR_variant ESAD-UK 17 33902284 33902284 insertion of <=200bp - C downstream_gene_variant ESAD-UK 17 33906381 33906381 single base substitution T A upstream_gene_variant ESAD-UK 17 33906662 33906662 single base substitution A G upstream_gene_variant ESAD-UK 17 33907133 33907133 single base substitution T A upstream_gene_variant ESAD-UK 17 33908572 33908572 insertion of <=200bp - A upstream_gene_variant ESAD-UK 17 33908573 33908573 single base substitution T A upstream_gene_variant ESAD-UK 17 33910532 33910532 insertion of <=200bp - TCTC upstream_gene_variant ESCA-CN 17 33904328 33904328 single base substitution G A exon_variant ESCA-CN 17 33904328 33904328 single base substitution G A synonymous_variant L137L 409C>T GBM-US 17 33904178 33904178 single base substitution G A exon_variant GBM-US 17 33904178 33904178 single base substitution G A stop_gained Q187* 559C>T GBM-US 17 33904306 33904306 single base substitution G C exon_variant GBM-US 17 33904306 33904306 single base substitution G C missense_variant S144C 431C>G KIRP-US 17 33903043 33903043 single base substitution G A downstream_gene_variant KIRP-US 17 33903043 33903043 single base substitution G A exon_variant KIRP-US 17 33903043 33903043 single base substitution G A missense_variant P280S 838C>T KIRP-US 17 33904481 33904481 single base substitution A C exon_variant KIRP-US 17 33904481 33904481 single base substitution A C missense_variant F86V 256T>G LICA-FR 17 33897866 33897866 single base substitution T C downstream_gene_variant LINC-JP 17 33904785 33904785 single base substitution T A intron_variant LIRI-JP 17 33897656 33897656 single base substitution G A downstream_gene_variant LIRI-JP 17 33902799 33902799 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 33902799 33902799 single base substitution T C downstream_gene_variant LIRI-JP 17 33905025 33905025 single base substitution C A exon_variant LIRI-JP 17 33905025 33905025 single base substitution C A missense_variant A6S 16G>T LIRI-JP 17 33905085 33905085 single base substitution C G 5_prime_UTR_variant LIRI-JP 17 33905257 33905257 single base substitution C A 5_prime_UTR_variant LIRI-JP 17 33905257 33905257 single base substitution C A intron_variant LIRI-JP 17 33905355 33905355 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 17 33905355 33905355 single base substitution G C intron_variant LIRI-JP 17 33909204 33909204 single base substitution G T upstream_gene_variant LIRI-JP 17 33909556 33909556 single base substitution G A upstream_gene_variant LIRI-JP 17 33910363 33910363 single base substitution G T upstream_gene_variant LUSC-KR 17 33897866 33897866 single base substitution T C downstream_gene_variant LUSC-KR 17 33900571 33900571 single base substitution G T downstream_gene_variant LUSC-KR 17 33907030 33907030 single base substitution G A upstream_gene_variant LUSC-KR 17 33909247 33909247 single base substitution A T upstream_gene_variant LUSC-KR 17 33910087 33910087 single base substitution G A upstream_gene_variant LUSC-US 17 33902880 33902880 single base substitution C A downstream_gene_variant LUSC-US 17 33902880 33902880 single base substitution C A exon_variant LUSC-US 17 33902880 33902880 single base substitution C A missense_variant R334M 1001G>T LUSC-US 17 33904106 33904106 single base substitution G C exon_variant LUSC-US 17 33904106 33904106 single base substitution G C missense_variant L211V 631C>G LUSC-US 17 33904306 33904306 single base substitution G C exon_variant LUSC-US 17 33904306 33904306 single base substitution G C missense_variant S144C 431C>G LUSC-US 17 33904432 33904432 single base substitution C A exon_variant LUSC-US 17 33904432 33904432 single base substitution C A missense_variant R102I 305G>T MALY-DE 17 33902285 33902285 insertion of <=200bp - C 3_prime_UTR_variant MALY-DE 17 33902285 33902285 insertion of <=200bp - C downstream_gene_variant MALY-DE 17 33908912 33908912 single base substitution A G upstream_gene_variant MELA-AU 17 33897032 33897032 single base substitution C T downstream_gene_variant MELA-AU 17 33897034 33897035 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 33897829 33897829 single base substitution C T downstream_gene_variant MELA-AU 17 33898130 33898130 single base substitution G A downstream_gene_variant MELA-AU 17 33899134 33899134 single base substitution C T downstream_gene_variant MELA-AU 17 33900848 33900848 single base substitution C T downstream_gene_variant MELA-AU 17 33900890 33900890 single base substitution C T downstream_gene_variant MELA-AU 17 33901129 33901129 single base substitution A T downstream_gene_variant MELA-AU 17 33901479 33901479 single base substitution T A downstream_gene_variant MELA-AU 17 33902518 33902518 single base substitution G A 3_prime_UTR_variant MELA-AU 17 33902518 33902518 single base substitution G A downstream_gene_variant MELA-AU 17 33904921 33904921 single base substitution C T exon_variant MELA-AU 17 33904921 33904921 single base substitution C T synonymous_variant V40V 120G>A MELA-AU 17 33905289 33905289 single base substitution G A 5_prime_UTR_variant MELA-AU 17 33905289 33905289 single base substitution G A intron_variant MELA-AU 17 33905362 33905362 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 33905362 33905362 single base substitution A G intron_variant MELA-AU 17 33905605 33905605 single base substitution G A 5_prime_UTR_variant MELA-AU 17 33905605 33905605 single base substitution G A intron_variant MELA-AU 17 33905605 33905605 single base substitution G A upstream_gene_variant MELA-AU 17 33905644 33905644 single base substitution G A 5_prime_UTR_variant MELA-AU 17 33905644 33905644 single base substitution G A intron_variant MELA-AU 17 33905644 33905644 single base substitution G A upstream_gene_variant MELA-AU 17 33907114 33907114 single base substitution G A upstream_gene_variant MELA-AU 17 33907549 33907549 single base substitution C T upstream_gene_variant MELA-AU 17 33908609 33908609 single base substitution C T upstream_gene_variant MELA-AU 17 33908888 33908888 single base substitution C T upstream_gene_variant MELA-AU 17 33909227 33909227 single base substitution G A upstream_gene_variant MELA-AU 17 33909412 33909412 single base substitution G A upstream_gene_variant MELA-AU 17 33909579 33909579 single base substitution C A upstream_gene_variant MELA-AU 17 33910016 33910016 single base substitution G A upstream_gene_variant MELA-AU 17 33910555 33910555 single base substitution C T upstream_gene_variant MELA-AU 17 33910557 33910557 single base substitution C T upstream_gene_variant ORCA-IN 17 33905807 33905807 single base substitution G C 5_prime_UTR_variant ORCA-IN 17 33905807 33905807 single base substitution G C upstream_gene_variant PACA-AU 17 33897858 33897858 single base substitution C T downstream_gene_variant PACA-AU 17 33898343 33898343 single base substitution T C downstream_gene_variant PACA-AU 17 33903057 33903057 single base substitution G T downstream_gene_variant PACA-AU 17 33903057 33903057 single base substitution G T exon_variant PACA-AU 17 33903057 33903057 single base substitution G T stop_gained S275* 824C>A PACA-AU 17 33904199 33904199 single base substitution G A exon_variant PACA-AU 17 33904199 33904199 single base substitution G A stop_gained R180* 538C>T PACA-AU 17 33908572 33908572 single base substitution T A upstream_gene_variant PACA-AU 17 33909635 33909635 single base substitution T G upstream_gene_variant PACA-CA 17 33901064 33901064 single base substitution G A downstream_gene_variant PACA-CA 17 33902721 33902721 single base substitution C T 3_prime_UTR_variant PACA-CA 17 33902721 33902721 single base substitution C T downstream_gene_variant PACA-CA 17 33902759 33902759 single base substitution C T 3_prime_UTR_variant PACA-CA 17 33902759 33902759 single base substitution C T downstream_gene_variant PACA-CA 17 33902852 33902852 single base substitution A C downstream_gene_variant PACA-CA 17 33902852 33902852 single base substitution A C exon_variant PACA-CA 17 33902852 33902852 single base substitution A C synonymous_variant G343G 1029T>G PACA-CA 17 33902882 33902882 single base substitution C T downstream_gene_variant PACA-CA 17 33902882 33902882 single base substitution C T exon_variant PACA-CA 17 33902882 33902882 single base substitution C T synonymous_variant V333V 999G>A PACA-CA 17 33902941 33902941 single base substitution C T downstream_gene_variant PACA-CA 17 33902941 33902941 single base substitution C T exon_variant PACA-CA 17 33902941 33902941 single base substitution C T missense_variant D314N 940G>A PACA-CA 17 33903038 33903038 single base substitution A C downstream_gene_variant PACA-CA 17 33903038 33903038 single base substitution A C exon_variant PACA-CA 17 33903038 33903038 single base substitution A C synonymous_variant T281T 843T>G PACA-CA 17 33903098 33903098 single base substitution A C downstream_gene_variant PACA-CA 17 33903098 33903098 single base substitution A C exon_variant PACA-CA 17 33903098 33903098 single base substitution A C synonymous_variant L261L 783T>G PACA-CA 17 33903193 33903193 single base substitution C T downstream_gene_variant PACA-CA 17 33903193 33903193 single base substitution C T exon_variant PACA-CA 17 33903193 33903193 single base substitution C T missense_variant E230K 688G>A PACA-CA 17 33903252 33903252 single base substitution C T downstream_gene_variant PACA-CA 17 33903252 33903252 single base substitution C T intron_variant PACA-CA 17 33903453 33903453 single base substitution C T downstream_gene_variant PACA-CA 17 33903453 33903453 single base substitution C T intron_variant PACA-CA 17 33903635 33903635 single base substitution C T downstream_gene_variant PACA-CA 17 33903635 33903635 single base substitution C T intron_variant PACA-CA 17 33903669 33903669 single base substitution C T downstream_gene_variant PACA-CA 17 33903669 33903669 single base substitution C T intron_variant PACA-CA 17 33903769 33903769 single base substitution C T downstream_gene_variant PACA-CA 17 33903769 33903769 single base substitution C T intron_variant PACA-CA 17 33903946 33903946 single base substitution C T downstream_gene_variant PACA-CA 17 33903946 33903946 single base substitution C T intron_variant PACA-CA 17 33903966 33903966 single base substitution A G downstream_gene_variant PACA-CA 17 33903966 33903966 single base substitution A G intron_variant PACA-CA 17 33904136 33904136 single base substitution C T exon_variant PACA-CA 17 33904136 33904136 single base substitution C T missense_variant G201S 601G>A PACA-CA 17 33904158 33904158 single base substitution C T exon_variant PACA-CA 17 33904158 33904158 single base substitution C T synonymous_variant L193L 579G>A PACA-CA 17 33904222 33904222 single base substitution C T exon_variant PACA-CA 17 33904222 33904222 single base substitution C T missense_variant G172E 515G>A PACA-CA 17 33904239 33904239 single base substitution C T exon_variant PACA-CA 17 33904239 33904239 single base substitution C T synonymous_variant V166V 498G>A PACA-CA 17 33904353 33904353 single base substitution C T exon_variant PACA-CA 17 33904353 33904353 single base substitution C T synonymous_variant V128V 384G>A PACA-CA 17 33904359 33904359 single base substitution C T exon_variant PACA-CA 17 33904359 33904359 single base substitution C T synonymous_variant L126L 378G>A PACA-CA 17 33904538 33904538 single base substitution C T exon_variant PACA-CA 17 33904538 33904538 single base substitution C T missense_variant D67N 199G>A PACA-CA 17 33904556 33904556 single base substitution C T exon_variant PACA-CA 17 33904556 33904556 single base substitution C T missense_variant E61K 181G>A PACA-CA 17 33904820 33904820 single base substitution G A intron_variant PACA-CA 17 33905297 33905297 single base substitution T C 5_prime_UTR_variant PACA-CA 17 33905297 33905297 single base substitution T C intron_variant PACA-CA 17 33907853 33907853 single base substitution G A upstream_gene_variant PACA-CA 17 33907880 33907880 single base substitution A G upstream_gene_variant PACA-CA 17 33909080 33909080 single base substitution C T upstream_gene_variant PBCA-DE 17 33909154 33909154 single base substitution G C upstream_gene_variant PRAD-CA 17 33903823 33903823 single base substitution G T downstream_gene_variant PRAD-CA 17 33903823 33903823 single base substitution G T intron_variant PRAD-CA 17 33906290 33906290 single base substitution A T upstream_gene_variant PRAD-US 17 33903106 33903106 insertion of <=200bp - C downstream_gene_variant PRAD-US 17 33903106 33903106 insertion of <=200bp - C exon_variant PRAD-US 17 33903106 33903106 insertion of <=200bp - C frameshift_variant Q259R? RECA-EU 17 33901410 33901410 single base substitution T C downstream_gene_variant RECA-EU 17 33901801 33901801 single base substitution A C downstream_gene_variant RECA-EU 17 33909432 33909432 single base substitution T G upstream_gene_variant SKCA-BR 17 33897747 33897749 deletion of <=200bp TTC - downstream_gene_variant SKCA-BR 17 33898150 33898150 single base substitution C T downstream_gene_variant SKCA-BR 17 33899073 33899073 single base substitution C T downstream_gene_variant SKCA-BR 17 33901113 33901113 single base substitution A C downstream_gene_variant SKCA-BR 17 33903522 33903522 single base substitution C A downstream_gene_variant SKCA-BR 17 33903522 33903522 single base substitution C A intron_variant SKCA-BR 17 33905644 33905644 single base substitution G A 5_prime_UTR_variant SKCA-BR 17 33905644 33905644 single base substitution G A intron_variant SKCA-BR 17 33905644 33905644 single base substitution G A upstream_gene_variant SKCA-BR 17 33908314 33908314 insertion of <=200bp - TACAA upstream_gene_variant SKCA-BR 17 33908572 33908572 single base substitution T A upstream_gene_variant SKCA-BR 17 33909299 33909299 single base substitution T G upstream_gene_variant SKCA-BR 17 33910218 33910218 single base substitution T C upstream_gene_variant SKCA-BR 17 33910533 33910539 deletion of <=200bp TTCTCTC - upstream_gene_variant SKCA-BR 17 33910535 33910535 single base substitution C T upstream_gene_variant SKCA-BR 17 33910547 33910547 single base substitution C T upstream_gene_variant SKCA-BR 17 33910549 33910549 single base substitution C T upstream_gene_variant SKCM-US 17 33904921 33904921 single base substitution C T exon_variant SKCM-US 17 33904921 33904921 single base substitution C T synonymous_variant V40V 120G>A STAD-US 17 33903184 33903184 single base substitution T G downstream_gene_variant STAD-US 17 33903184 33903184 single base substitution T G exon_variant STAD-US 17 33903184 33903184 single base substitution T G missense_variant N233H 697A>C STAD-US 17 33905039 33905040 deletion of <=200bp AT - exon_variant STAD-US 17 33905039 33905040 deletion of <=200bp AT - frameshift_variant M1 THCA-SA 17 33902635 33902635 single base substitution G T 3_prime_UTR_variant THCA-SA 17 33902635 33902635 single base substitution G T downstream_gene_variant UCEC-US 17 33902830 33902830 single base substitution G T downstream_gene_variant UCEC-US 17 33902830 33902830 single base substitution G T exon_variant UCEC-US 17 33902830 33902830 single base substitution G T missense_variant L351M 1051C>A UCEC-US 17 33904176 33904176 single base substitution C T exon_variant UCEC-US 17 33904176 33904176 single base substitution C T synonymous_variant Q187Q 561G>A UCEC-US 17 33904198 33904198 single base substitution C T exon_variant UCEC-US 17 33904198 33904198 single base substitution C T missense_variant R180Q 539G>A UCEC-US 17 33904203 33904203 single base substitution T G exon_variant UCEC-US 17 33904203 33904203 single base substitution T G missense_variant Q178H 534A>C UCEC-US 17 33904276 33904276 single base substitution C T exon_variant UCEC-US 17 33904276 33904276 single base substitution C T missense_variant R154Q 461G>A UCEC-US 17 33904281 33904281 single base substitution C T exon_variant UCEC-US 17 33904281 33904281 single base substitution C T stop_gained W152* 456G>A UCEC-US 17 33904322 33904322 single base substitution C A exon_variant UCEC-US 17 33904322 33904322 single base substitution C A stop_gained E139* 415G>T UCEC-US 17 33904940 33904940 single base substitution C A exon_variant UCEC-US 17 33904940 33904940 single base substitution C A missense_variant R34I 101G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand I2L-P19Ta-Tumor-Organoid COSM5364075 c.508T>C p.W170R Substitution - Missense 17:35577210-35577210 - PCSI_0208_Pa_P COSM3378146 c.199G>A p.D67N Substitution - Missense 17:35577519-35577519 - Gp5D COSM3181858 c.500A>G p.N167S Substitution - Missense 17:35577218-35577218 - TCGA-AA-3510-01 COSM176755 c.539G>A p.R180Q Substitution - Missense 17:35577179-35577179 - TCGA-06-6697-01 COSM3402783 c.559C>T p.Q187* Substitution - Nonsense 17:35577159-35577159 - CSCC-60-T COSM4550855 c.511G>A p.E171K Substitution - Missense 17:35577207-35577207 - PCSI_0208_Pa_P_526 COSM3378140 c.843T>G p.T281T Substitution - coding silent 17:35576019-35576019 - PCSI_0208_Pa_P COSM3378142 c.579G>A p.L193L Substitution - coding silent 17:35577139-35577139 - RK170_C01 COSM1630149 c.16G>T p.A6S Substitution - Missense 17:35578006-35578006 - TCGA-BR-8680-01 COSM4065592 c.697A>C p.N233H Substitution - Missense 17:35576165-35576165 - PCSI_0208_Pa_P_526 COSM3378138 c.999G>A p.V333V Substitution - coding silent 17:35575863-35575863 - TCGA-B9-5156-01 COSM3988927 c.838C>T p.P280S Substitution - Missense 17:35576024-35576024 - 1N26-VS-1T26 COSM4973502 c.980G>A p.R327H Substitution - Missense 17:35575882-35575882 - 2492726 COSM5725328 c.885C>T p.P295P Substitution - coding silent 17:35575977-35575977 - L04 COSM5368665 c.565C>T p.H189Y Substitution - Missense 17:35577153-35577153 - Pat_01_A COSM5852256 c.49C>T p.Q17* Substitution - Nonsense 17:35577973-35577973 - TCGA-66-2795-01 COSM705498 c.1001G>T p.R334M Substitution - Missense 17:35575861-35575861 - TCGA-D1-A17Q-01 COSM977987 c.461G>A p.R154Q Substitution - Missense 17:35577257-35577257 - RKO COSM4614799 c.368_370delTTC p.L123delL Deletion - In frame 17:35577348-35577350 - TCGA-AP-A05N-01 COSM977985 c.561G>A p.Q187Q Substitution - coding silent 17:35577157-35577157 - PCSI_0208_Pa_P COSM3378145 c.378G>A p.L126L Substitution - coding silent 17:35577340-35577340 - PD11360a COSM1520624 c.743C>G p.S248C Substitution - Missense 17:35576119-35576119 - PCSI_0208_Pa_P_526 COSM3378147 c.181G>A p.E61K Substitution - Missense 17:35577537-35577537 - TCGA-G2-A2EO-01 COSM1302669 c.768C>G p.F256L Substitution - Missense 17:35576094-35576094 - 8048316 COSM3387807 c.538C>T p.R180* Substitution - Nonsense 17:35577180-35577180 - ESCC-128T COSM3937337 c.409C>T p.L137L Substitution - coding silent 17:35577309-35577309 - ESO-859 COSM1239806 c.1029T>C p.G343G Substitution - coding silent 17:35575833-35575833 - TCGA-CA-6717-01 COSM1382511 c.822G>T p.K274N Substitution - Missense 17:35576040-35576040 - 587222 COSM1220216 c.184A>C p.I62L Substitution - Missense 17:35577534-35577534 - LIM2405 COSM4642098 c.259T>C p.Y87H Substitution - Missense 17:35577459-35577459 - PCSI_0208_Pa_P_526 COSM3378146 c.199G>A p.D67N Substitution - Missense 17:35577519-35577519 - 761 COSM145774 c.126G>C p.K42N Substitution - Missense 17:35577896-35577896 - CSCC-7-T COSM4488243 c.32C>T p.A11V Substitution - Missense 17:35577990-35577990 - Gp2D COSM3181858 c.500A>G p.N167S Substitution - Missense 17:35577218-35577218 - PCSI_0208_Pa_P COSM3378137 c.1029T>G p.G343G Substitution - coding silent 17:35575833-35575833 - TCGA-GD-A3OQ-01 COSM1302668 c.771C>T p.F257F Substitution - coding silent 17:35576091-35576091 - Pat_41_B COSM5852255 c.625C>T p.Q209* Substitution - Nonsense 17:35577093-35577093 - pfg144T COSM4752505 c.443C>G p.P148R Substitution - Missense 17:35577275-35577275 - TCGA-AX-A05Z-01 COSM977984 c.1051C>A p.L351M Substitution - Missense 17:35575811-35575811 - TCGA-B1-A47M-01 COSM4414649 c.256T>G p.F86V Substitution - Missense 17:35577462-35577462 - PCSI_0208_Pa_P COSM3378143 c.515G>A p.G172E Substitution - Missense 17:35577203-35577203 - P53 COSM329010 c.354G>T p.M118I Substitution - Missense 17:35577364-35577364 - CRC-02T COSM5454540 c.862C>A p.L288I Substitution - Missense 17:35576000-35576000 - C008 COSM5523448 c.930C>T p.T310T Substitution - coding silent 17:35575932-35575932 - PCSI_0208_Pa_P COSM3378139 c.940G>A p.D314N Substitution - Missense 17:35575922-35575922 - PCSI_0208_Pa_P COSM3378140 c.843T>G p.T281T Substitution - coding silent 17:35576019-35576019 - TCGA-AD-6964-01 COSM1382512 c.738C>A p.S246S Substitution - coding silent 17:35576124-35576124 - TCGA-DK-A2I1-01 COSM1302667 c.900G>A p.M300I Substitution - Missense 17:35575962-35575962 - TCGA-29-1781-01 COSM1324031 c.194T>C p.L65P Substitution - Missense 17:35577524-35577524 - TCGA-FU-A23K-01 COSM460364 c.178G>C p.D60H Substitution - Missense 17:35577540-35577540 - 761-01-1TD COSM145774 c.126G>C p.K42N Substitution - Missense 17:35577896-35577896 - 1409_T COSM3958229 c.433A>G p.I145V Substitution - Missense 17:35577285-35577285 - PCSI_0208_Pa_P COSM3378144 c.498G>A p.V166V Substitution - coding silent 17:35577220-35577220 - HCT8 COSM4634188 c.349A>T p.I117F Substitution - Missense 17:35577369-35577369 - PCSI_0208_Pa_P_526 COSM3378137 c.1029T>G p.G343G Substitution - coding silent 17:35575833-35575833 - C008 COSM5523447 c.931C>T p.R311W Substitution - Missense 17:35575931-35575931 - TCGA-A5-A0VQ-01 COSM977988 c.456G>A p.W152* Substitution - Nonsense 17:35577262-35577262 - TCGA-EE-A2GB-06 COSM3516305 c.120G>A p.V40V Substitution - coding silent 17:35577902-35577902 - PCSI_0208_Pa_P_526 COSM3378145 c.378G>A p.L126L Substitution - coding silent 17:35577340-35577340 - TCGA-66-2782-01 COSM705497 c.631C>G p.L211V Substitution - Missense 17:35577087-35577087 - TCGA-BS-A0UF-01 COSM176755 c.539G>A p.R180Q Substitution - Missense 17:35577179-35577179 - TCGA-06-0743-01 COSM705496 c.431C>G p.S144C Substitution - Missense 17:35577287-35577287 - TCGA-AX-A0J0-01 COSM977990 c.101G>T p.R34I Substitution - Missense 17:35577921-35577921 - Pat_41_B COSM5852254 c.674C>T p.A225V Substitution - Missense 17:35577044-35577044 - 587224 COSM1220215 c.703G>A p.A235T Substitution - Missense 17:35576159-35576159 - ESCC_5 COSM5623156 c.670C>T p.P224S Substitution - Missense 17:35577048-35577048 - HCC2998 COSM3181850 c.880T>G p.S294A Substitution - Missense 17:35575982-35575982 - PCSI_0208_Pa_P_526 COSM5031770 c.688G>A p.E230K Substitution - Missense 17:35576174-35576174 - TCGA-18-3411-01 COSM705495 c.305G>T p.R102I Substitution - Missense 17:35577413-35577413 - ESCC_170 COSM5649302 c.157_158insT p.G53fs*8 Insertion - Frameshift 17:35577560-35577561 - PCSI_0208_Pa_P COSM3378141 c.783T>G p.L261L Substitution - coding silent 17:35576079-35576079 - 8035749 COSM4781602 c.824C>A p.S275* Substitution - Nonsense 17:35576038-35576038 - PCSI_0472_Pa_P_526 COSM5031481 c.601G>A p.G201S Substitution - Missense 17:35577117-35577117 - PCSI_0208_Pa_P_526 COSM5031705 c.384G>A p.V128V Substitution - coding silent 17:35577334-35577334 - PCSI_0208_Pa_P_526 COSM3378143 c.515G>A p.G172E Substitution - Missense 17:35577203-35577203 - PCSI_0208_Pa_P COSM3378147 c.181G>A p.E61K Substitution - Missense 17:35577537-35577537 - PCSI_0208_Pa_P_526 COSM3378139 c.940G>A p.D314N Substitution - Missense 17:35575922-35575922 - PCSI_0208_Pa_P COSM3378138 c.999G>A p.V333V Substitution - coding silent 17:35575863-35575863 - TCGA-34-2608-01 COSM705496 c.431C>G p.S144C Substitution - Missense 17:35577287-35577287 - TCGA-D1-A17Q-01 COSM977989 c.415G>T p.E139* Substitution - Nonsense 17:35577303-35577303 - PCSI_0208_Pa_P_526 COSM3378141 c.783T>G p.L261L Substitution - coding silent 17:35576079-35576079 - TCGA-B5-A11E-01 COSM977986 c.534A>C p.Q178H Substitution - Missense 17:35577184-35577184 - 6 COSM1237240 c.990T>C p.F330F Substitution - coding silent 17:35575872-35575872 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.591186;Hs.591190 17q12 601758 2476242|CGAP|BC031085|C/G|non-coding||2435|Validated; 1517392|dbSNP|BC031085|A/G|non-coding||2516|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 5-UTRSNV . c.1-15T>C 17 33905055 CM A G Synonymous p.G343G c.1029T>C 17 33902852 ESCA C A Missense p.R102I c.305G>T 17 33904432 LUSC C A Missense p.R334M c.1001G>T 17 33902880 LUSC C A Missense p.W170L c.509G>T 17 33904228 STAD - C Frameshift p.Q259Afs*4 c.774dupG 17 33903107 PRAD C G Missense p.K42N c.126G>C 17 33904915 CLL C T Missense p.M300I c.900G>A 17 33902981 BLCA C T Nonsense p.W152* c.456G>A 17 33904281 UCEC C T Synonymous p.Q187Q c.561G>A 17 33904176 UCEC C T Synonymous p.V40V c.120G>A 17 33904921 CM G A Nonsense p.Q187* c.559C>T 17 33904178 GBM G A Synonymous p.F257F c.771C>T 17 33903110 BLCA G C Missense p.A104G c.311C>G 17 33904426 LUAD G C Missense p.F256L c.768C>G 17 33903113 BLCA G C Missense p.L211V c.631C>G 17 33904106 LUSC G C Missense p.S144C c.431C>G 17 33904306 GBM G C Missense p.S144C c.431C>G 17 33904306 LUSC G C Synonymous p.L70L c.210C>G 17 33904527 STAD GG AA Missense p.S19F c.56_57delinsTT 17 33904984 CM G T Missense p.F54L c.162C>A 17 33904575 LUAD T C 3-UTRSNV . c.1077+5A>G 17 33902799 HC