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 47004453 47004453 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr17:47004453C>T c.1022C>T c.(1021-1023)tCa>tTa p.S341L BRCA 17 46990262 46990262 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr17:46990262C>T c.457C>T c.(457-459)Cgg>Tgg p.R153W CESC 17 46998528 46998528 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 g.chr17:46998528C>T c.697C>T c.(697-699)Cat>Tat p.H233Y COAD 17 46990283 46990283 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:46990283A>G c.478A>G c.(478-480)Atc>Gtc p.I160V COADREAD 17 46990283 46990283 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:46990283A>G c.478A>G c.(478-480)Atc>Gtc p.I160V GBMLGG 17 47000214 47000214 + Missense_Mutation SNP T T C TCGA-VM-A8C8-01A-11D-A36O-08 TCGA-VM-A8C8-10A-01D-A367-08 g.chr17:47000214T>C c.809T>C c.(808-810)gTg>gCg p.V270A LGG 17 47000214 47000214 + Missense_Mutation SNP T T C TCGA-VM-A8C8-01A-11D-A36O-08 TCGA-VM-A8C8-10A-01D-A367-08 g.chr17:47000214T>C c.809T>C c.(808-810)gTg>gCg p.V270A LIHC 17 46988176 46988176 + Silent SNP C C T TCGA-UB-A7MD-01A-12D-A34Z-10 TCGA-UB-A7MD-10A-01D-A34Z-10 g.chr17:46988176C>T c.324C>T c.(322-324)atC>atT p.I108I LUAD 17 46988226 46988226 + Missense_Mutation SNP C C T TCGA-86-8075-01A-11D-2238-08 TCGA-86-8075-10A-01D-2238-08 g.chr17:46988226C>T c.374C>T c.(373-375)aCt>aTt p.T125I LUAD 17 46990242 46990242 + Missense_Mutation SNP G G T TCGA-71-8520-01A-11D-2393-08 TCGA-71-8520-10A-01D-2393-08 g.chr17:46990242G>T c.437G>T c.(436-438)gGt>gTt p.G146V LUAD 17 46998559 46998559 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr17:46998559G>T c.728G>T c.(727-729)tGt>tTt p.C243F LUSC 17 47004450 47004450 + Missense_Mutation SNP G G T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 g.chr17:47004450G>T c.1019G>T c.(1018-1020)aGt>aTt p.S340I PRAD 17 47004470 47004470 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:47004470G>T c.1039G>T c.(1039-1041)Gac>Tac p.D347Y SKCM 17 46990249 46990249 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr17:46990249C>T c.444C>T c.(442-444)ttC>ttT p.F148F SKCM 17 46998547 46998547 + Missense_Mutation SNP A A G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr17:46998547A>G c.716A>G c.(715-717)aAc>aGc p.N239S SKCM 17 47000226 47000226 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr17:47000226C>T c.821C>T c.(820-822)tCc>tTc p.S274F

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 47010623 47010623 single base substitution G A downstream_gene_variant BLCA-US 17 47004453 47004453 single base substitution C T 3_prime_UTR_variant BLCA-US 17 47004453 47004453 single base substitution C T downstream_gene_variant BLCA-US 17 47004453 47004453 single base substitution C T exon_variant BLCA-US 17 47004453 47004453 single base substitution C T missense_variant S341L 1022C>T BOCA-FR 17 47003088 47003088 single base substitution A C downstream_gene_variant BOCA-FR 17 47003088 47003088 single base substitution A C intron_variant BRCA-EU 17 46981636 46981636 single base substitution C G upstream_gene_variant BRCA-EU 17 46982163 46982163 single base substitution C G upstream_gene_variant BRCA-EU 17 46983295 46983295 single base substitution G A upstream_gene_variant BRCA-EU 17 46983800 46983800 single base substitution G A upstream_gene_variant BRCA-EU 17 46984037 46984037 single base substitution C G upstream_gene_variant BRCA-EU 17 46984207 46984207 single base substitution G T upstream_gene_variant BRCA-EU 17 46984908 46984908 single base substitution G A upstream_gene_variant BRCA-EU 17 46985298 46985298 single base substitution G C upstream_gene_variant BRCA-EU 17 46987244 46987244 single base substitution A G intron_variant BRCA-EU 17 46987244 46987244 single base substitution A G upstream_gene_variant BRCA-EU 17 46988009 46988009 single base substitution G C 5_prime_UTR_variant BRCA-EU 17 46988009 46988009 single base substitution G C intron_variant BRCA-EU 17 46988009 46988009 single base substitution G C upstream_gene_variant BRCA-EU 17 46988637 46988637 single base substitution C A exon_variant BRCA-EU 17 46988637 46988637 single base substitution C A intron_variant BRCA-EU 17 46988637 46988637 single base substitution C A upstream_gene_variant BRCA-EU 17 46988783 46988783 single base substitution G C exon_variant BRCA-EU 17 46988783 46988783 single base substitution G C intron_variant BRCA-EU 17 46988783 46988783 single base substitution G C upstream_gene_variant BRCA-EU 17 46988843 46988843 single base substitution G C exon_variant BRCA-EU 17 46988843 46988843 single base substitution G C intron_variant BRCA-EU 17 46988843 46988843 single base substitution G C upstream_gene_variant BRCA-EU 17 46989149 46989149 single base substitution T G exon_variant BRCA-EU 17 46989149 46989149 single base substitution T G intron_variant BRCA-EU 17 46989149 46989149 single base substitution T G upstream_gene_variant BRCA-EU 17 46990196 46990196 single base substitution A G exon_variant BRCA-EU 17 46990196 46990196 single base substitution A G intron_variant BRCA-EU 17 46990196 46990196 single base substitution A G missense_variant I131V 391A>G BRCA-EU 17 46990196 46990196 single base substitution A G missense_variant I23V 67A>G BRCA-EU 17 46990196 46990196 single base substitution A G splice_region_variant BRCA-EU 17 46990196 46990196 single base substitution A G upstream_gene_variant BRCA-EU 17 46993037 46993037 single base substitution C T intron_variant BRCA-EU 17 46993037 46993037 single base substitution C T upstream_gene_variant BRCA-EU 17 46993070 46993070 single base substitution A G intron_variant BRCA-EU 17 46993070 46993070 single base substitution A G upstream_gene_variant BRCA-EU 17 46993905 46993905 single base substitution G A downstream_gene_variant BRCA-EU 17 46993905 46993905 single base substitution G A intron_variant BRCA-EU 17 46993905 46993905 single base substitution G A upstream_gene_variant BRCA-EU 17 46994314 46994314 single base substitution G C downstream_gene_variant BRCA-EU 17 46994314 46994314 single base substitution G C intron_variant BRCA-EU 17 46994314 46994314 single base substitution G C upstream_gene_variant BRCA-EU 17 46994319 46994319 single base substitution C T downstream_gene_variant BRCA-EU 17 46994319 46994319 single base substitution C T intron_variant BRCA-EU 17 46994319 46994319 single base substitution C T upstream_gene_variant BRCA-EU 17 46994918 46994918 single base substitution G C downstream_gene_variant BRCA-EU 17 46994918 46994918 single base substitution G C intron_variant BRCA-EU 17 46994918 46994918 single base substitution G C upstream_gene_variant BRCA-EU 17 46995003 46995003 single base substitution G C downstream_gene_variant BRCA-EU 17 46995003 46995003 single base substitution G C intron_variant BRCA-EU 17 46995003 46995003 single base substitution G C upstream_gene_variant BRCA-EU 17 46995547 46995547 single base substitution G A downstream_gene_variant BRCA-EU 17 46995547 46995547 single base substitution G A intron_variant BRCA-EU 17 46995547 46995547 single base substitution G A upstream_gene_variant BRCA-EU 17 47000724 47000724 single base substitution G A downstream_gene_variant BRCA-EU 17 47000724 47000724 single base substitution G A intron_variant BRCA-EU 17 47001970 47001970 single base substitution G A downstream_gene_variant BRCA-EU 17 47001970 47001970 single base substitution G A intron_variant BRCA-EU 17 47002112 47002112 single base substitution G A downstream_gene_variant BRCA-EU 17 47002112 47002112 single base substitution G A intron_variant BRCA-EU 17 47002197 47002197 single base substitution G C downstream_gene_variant BRCA-EU 17 47002197 47002197 single base substitution G C intron_variant BRCA-EU 17 47004282 47004282 single base substitution A G downstream_gene_variant BRCA-EU 17 47004282 47004282 single base substitution A G intron_variant BRCA-EU 17 47004585 47004585 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 47004585 47004585 single base substitution C G downstream_gene_variant BRCA-EU 17 47004585 47004585 single base substitution C G exon_variant BRCA-EU 17 47004733 47004733 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 47004733 47004733 single base substitution C T downstream_gene_variant BRCA-EU 17 47004733 47004733 single base substitution C T exon_variant BRCA-EU 17 47005979 47005979 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 47005979 47005979 single base substitution G A downstream_gene_variant BRCA-EU 17 47005979 47005979 single base substitution G A exon_variant BRCA-EU 17 47007316 47007316 single base substitution C G downstream_gene_variant BRCA-EU 17 47007661 47007661 single base substitution C T downstream_gene_variant BRCA-EU 17 47009232 47009232 single base substitution G A downstream_gene_variant BRCA-EU 17 47009372 47009373 deletion of <=200bp AG - downstream_gene_variant BRCA-EU 17 47010074 47010074 single base substitution C T downstream_gene_variant BRCA-EU 17 47010104 47010104 single base substitution A G downstream_gene_variant BRCA-EU 17 47010220 47010220 single base substitution T A downstream_gene_variant BRCA-FR 17 46983276 46983276 single base substitution A G upstream_gene_variant BRCA-FR 17 46983289 46983289 single base substitution T G upstream_gene_variant BRCA-FR 17 46985298 46985298 single base substitution G C upstream_gene_variant BRCA-FR 17 46988009 46988009 single base substitution G C 5_prime_UTR_variant BRCA-FR 17 46988009 46988009 single base substitution G C intron_variant BRCA-FR 17 46988009 46988009 single base substitution G C upstream_gene_variant BRCA-FR 17 46988843 46988843 single base substitution G C exon_variant BRCA-FR 17 46988843 46988843 single base substitution G C intron_variant BRCA-FR 17 46988843 46988843 single base substitution G C upstream_gene_variant BRCA-FR 17 46994319 46994319 single base substitution C T downstream_gene_variant BRCA-FR 17 46994319 46994319 single base substitution C T intron_variant BRCA-FR 17 46994319 46994319 single base substitution C T upstream_gene_variant BRCA-FR 17 46998790 46998790 single base substitution G C downstream_gene_variant BRCA-FR 17 46998790 46998790 single base substitution G C intron_variant BRCA-FR 17 46999680 46999680 single base substitution C T downstream_gene_variant BRCA-FR 17 46999680 46999680 single base substitution C T intron_variant BRCA-FR 17 47009232 47009232 single base substitution G A downstream_gene_variant BRCA-UK 17 46990195 46990195 single base substitution G A exon_variant BRCA-UK 17 46990195 46990195 single base substitution G A intron_variant BRCA-UK 17 46990195 46990195 single base substitution G A splice_acceptor_variant BRCA-UK 17 46990195 46990195 single base substitution G A upstream_gene_variant BRCA-UK 17 47000575 47000575 single base substitution C G downstream_gene_variant BRCA-UK 17 47000575 47000575 single base substitution C G intron_variant BRCA-US 17 46990262 46990262 single base substitution C T exon_variant BRCA-US 17 46990262 46990262 single base substitution C T intron_variant BRCA-US 17 46990262 46990262 single base substitution C T missense_variant R153W 457C>T BRCA-US 17 46990262 46990262 single base substitution C T missense_variant R45W 133C>T BRCA-US 17 46990262 46990262 single base substitution C T upstream_gene_variant BTCA-JP 17 46998569 46998569 single base substitution C T 3_prime_UTR_variant BTCA-JP 17 46998569 46998569 single base substitution C T exon_variant BTCA-JP 17 46998569 46998569 single base substitution C T synonymous_variant H159H 477C>T BTCA-JP 17 46998569 46998569 single base substitution C T synonymous_variant H246H 738C>T BTCA-JP 17 46998569 46998569 single base substitution C T synonymous_variant H2H 6C>T BTCA-JP 17 47004392 47004392 single base substitution C T 3_prime_UTR_variant BTCA-JP 17 47004392 47004392 single base substitution C T downstream_gene_variant BTCA-JP 17 47004392 47004392 single base substitution C T exon_variant BTCA-JP 17 47004392 47004392 single base substitution C T missense_variant R321C 961C>T CESC-US 17 46998528 46998528 single base substitution C T 3_prime_UTR_variant CESC-US 17 46998528 46998528 single base substitution C T exon_variant CESC-US 17 46998528 46998528 single base substitution C T missense_variant H146Y 436C>T CESC-US 17 46998528 46998528 single base substitution C T missense_variant H233Y 697C>T CESC-US 17 46998528 46998528 single base substitution C T upstream_gene_variant CESC-US 17 47007747 47007747 single base substitution T C downstream_gene_variant CLLE-ES 17 46989377 46989377 single base substitution G T exon_variant CLLE-ES 17 46989377 46989377 single base substitution G T intron_variant CLLE-ES 17 46989377 46989377 single base substitution G T upstream_gene_variant COCA-CN 17 46988100 46988100 single base substitution C G 5_prime_UTR_variant COCA-CN 17 46988100 46988100 single base substitution C G intron_variant COCA-CN 17 46988100 46988100 single base substitution C G upstream_gene_variant COCA-CN 17 46993370 46993370 single base substitution G A exon_variant COCA-CN 17 46993370 46993370 single base substitution G A intron_variant COCA-CN 17 46993564 46993564 single base substitution G A downstream_gene_variant COCA-CN 17 46993564 46993564 single base substitution G A intron_variant COCA-CN 17 46993564 46993564 single base substitution G A upstream_gene_variant COCA-CN 17 47000251 47000251 single base substitution C T 3_prime_UTR_variant COCA-CN 17 47000251 47000251 single base substitution C T downstream_gene_variant COCA-CN 17 47000251 47000251 single base substitution C T exon_variant COCA-CN 17 47000251 47000251 single base substitution C T synonymous_variant Y282Y 846C>T COCA-CN 17 47000251 47000251 single base substitution C T synonymous_variant Y38Y 114C>T COCA-CN 17 47010801 47010801 single base substitution A T downstream_gene_variant EOPC-DE 17 46986557 46986557 single base substitution A C intron_variant EOPC-DE 17 46986557 46986557 single base substitution A C upstream_gene_variant ESAD-UK 17 46981373 46981373 single base substitution C G upstream_gene_variant ESAD-UK 17 46981476 46981476 single base substitution T G upstream_gene_variant ESAD-UK 17 46982694 46982694 single base substitution A G upstream_gene_variant ESAD-UK 17 46983850 46983850 single base substitution C T upstream_gene_variant ESAD-UK 17 46983946 46983946 single base substitution C T upstream_gene_variant ESAD-UK 17 46985840 46985840 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 17 46985840 46985840 single base substitution C T upstream_gene_variant ESAD-UK 17 46990379 46990379 single base substitution C A exon_variant ESAD-UK 17 46990379 46990379 single base substitution C A intron_variant ESAD-UK 17 46990379 46990379 single base substitution C A missense_variant L192I 574C>A ESAD-UK 17 46990379 46990379 single base substitution C A missense_variant L84I 250C>A ESAD-UK 17 46990379 46990379 single base substitution C A upstream_gene_variant ESAD-UK 17 46990524 46990524 single base substitution G C intron_variant ESAD-UK 17 46990524 46990524 single base substitution G C upstream_gene_variant ESAD-UK 17 46990914 46990914 single base substitution A G intron_variant ESAD-UK 17 46990914 46990914 single base substitution A G upstream_gene_variant ESAD-UK 17 46994260 46994260 single base substitution G T downstream_gene_variant ESAD-UK 17 46994260 46994260 single base substitution G T intron_variant ESAD-UK 17 46994260 46994260 single base substitution G T upstream_gene_variant ESAD-UK 17 46994488 46994488 single base substitution G A downstream_gene_variant ESAD-UK 17 46994488 46994488 single base substitution G A intron_variant ESAD-UK 17 46994488 46994488 single base substitution G A upstream_gene_variant ESAD-UK 17 46994564 46994564 single base substitution G T downstream_gene_variant ESAD-UK 17 46994564 46994564 single base substitution G T intron_variant ESAD-UK 17 46994564 46994564 single base substitution G T upstream_gene_variant ESAD-UK 17 46994575 46994575 single base substitution G C downstream_gene_variant ESAD-UK 17 46994575 46994575 single base substitution G C intron_variant ESAD-UK 17 46994575 46994575 single base substitution G C upstream_gene_variant ESAD-UK 17 46994650 46994650 single base substitution G T downstream_gene_variant ESAD-UK 17 46994650 46994650 single base substitution G T intron_variant ESAD-UK 17 46994650 46994650 single base substitution G T upstream_gene_variant ESAD-UK 17 46994745 46994745 single base substitution G A downstream_gene_variant ESAD-UK 17 46994745 46994745 single base substitution G A intron_variant ESAD-UK 17 46994745 46994745 single base substitution G A upstream_gene_variant ESAD-UK 17 46995734 46995734 single base substitution C T downstream_gene_variant ESAD-UK 17 46995734 46995734 single base substitution C T intron_variant ESAD-UK 17 46995734 46995734 single base substitution C T upstream_gene_variant ESAD-UK 17 46997983 46997983 single base substitution C A downstream_gene_variant ESAD-UK 17 46997983 46997983 single base substitution C A intron_variant ESAD-UK 17 46997983 46997983 single base substitution C A upstream_gene_variant ESAD-UK 17 47002434 47002434 single base substitution C T downstream_gene_variant ESAD-UK 17 47002434 47002434 single base substitution C T intron_variant ESAD-UK 17 47002804 47002804 single base substitution G C downstream_gene_variant ESAD-UK 17 47002804 47002804 single base substitution G C intron_variant ESAD-UK 17 47002825 47002825 single base substitution T G downstream_gene_variant ESAD-UK 17 47002825 47002825 single base substitution T G intron_variant ESAD-UK 17 47003338 47003338 single base substitution C T downstream_gene_variant ESAD-UK 17 47003338 47003338 single base substitution C T intron_variant ESAD-UK 17 47007213 47007213 single base substitution C T downstream_gene_variant ESAD-UK 17 47008067 47008067 single base substitution G T downstream_gene_variant ESAD-UK 17 47009722 47009722 single base substitution C T downstream_gene_variant ESAD-UK 17 47011276 47011276 single base substitution A G downstream_gene_variant ESAD-UK 17 47011417 47011417 single base substitution G A downstream_gene_variant ESCA-CN 17 46998599 46998599 single base substitution G A 3_prime_UTR_variant ESCA-CN 17 46998599 46998599 single base substitution G A exon_variant ESCA-CN 17 46998599 46998599 single base substitution G A missense_variant M12I 36G>A ESCA-CN 17 46998599 46998599 single base substitution G A missense_variant M169I 507G>A ESCA-CN 17 46998599 46998599 single base substitution G A missense_variant M256I 768G>A ESCA-CN 17 47000110 47000110 single base substitution C T downstream_gene_variant ESCA-CN 17 47000110 47000110 single base substitution C T intron_variant ESCA-CN 17 47000251 47000251 single base substitution C T 3_prime_UTR_variant ESCA-CN 17 47000251 47000251 single base substitution C T downstream_gene_variant ESCA-CN 17 47000251 47000251 single base substitution C T exon_variant ESCA-CN 17 47000251 47000251 single base substitution C T synonymous_variant Y282Y 846C>T ESCA-CN 17 47000251 47000251 single base substitution C T synonymous_variant Y38Y 114C>T ESCA-CN 17 47004723 47004723 single base substitution G A 3_prime_UTR_variant ESCA-CN 17 47004723 47004723 single base substitution G A downstream_gene_variant ESCA-CN 17 47004723 47004723 single base substitution G A exon_variant ESCA-CN 17 47006371 47006371 insertion of <=200bp - T 3_prime_UTR_variant ESCA-CN 17 47006371 47006371 insertion of <=200bp - T downstream_gene_variant ESCA-CN 17 47006371 47006371 insertion of <=200bp - T exon_variant LAML-KR 17 46983195 46983195 single base substitution A G upstream_gene_variant LAML-KR 17 46984781 46984781 single base substitution G T upstream_gene_variant LAML-KR 17 46994110 46994110 single base substitution T C downstream_gene_variant LAML-KR 17 46994110 46994110 single base substitution T C intron_variant LAML-KR 17 46994110 46994110 single base substitution T C upstream_gene_variant LAML-KR 17 46997394 46997394 single base substitution A T downstream_gene_variant LAML-KR 17 46997394 46997394 single base substitution A T intron_variant LAML-KR 17 46997394 46997394 single base substitution A T upstream_gene_variant LAML-KR 17 47000691 47000691 single base substitution A T downstream_gene_variant LAML-KR 17 47000691 47000691 single base substitution A T intron_variant LICA-FR 17 46990343 46990343 single base substitution A T exon_variant LICA-FR 17 46990343 46990343 single base substitution A T intron_variant LICA-FR 17 46990343 46990343 single base substitution A T missense_variant N180Y 538A>T LICA-FR 17 46990343 46990343 single base substitution A T missense_variant N72Y 214A>T LICA-FR 17 46990343 46990343 single base substitution A T upstream_gene_variant LICA-FR 17 47002228 47002228 single base substitution G A downstream_gene_variant LICA-FR 17 47002228 47002228 single base substitution G A intron_variant LICA-FR 17 47002644 47002644 deletion of <=200bp A - downstream_gene_variant LICA-FR 17 47002644 47002644 deletion of <=200bp A - intron_variant LICA-FR 17 47007123 47007152 deletion of <=200bp TTGGTGAAATTTAAGTGAGCTGTATGTAAA - downstream_gene_variant LIHC-US 17 46988176 46988176 single base substitution C T 5_prime_UTR_variant LIHC-US 17 46988176 46988176 single base substitution C T exon_variant LIHC-US 17 46988176 46988176 single base substitution C T intron_variant LIHC-US 17 46988176 46988176 single base substitution C T synonymous_variant I108I 324C>T LIHC-US 17 46988176 46988176 single base substitution C T upstream_gene_variant LINC-JP 17 46993162 46993162 single base substitution G T exon_variant LINC-JP 17 46993162 46993162 single base substitution G T intron_variant LINC-JP 17 46993636 46993636 single base substitution G T downstream_gene_variant LINC-JP 17 46993636 46993636 single base substitution G T intron_variant LINC-JP 17 46993636 46993636 single base substitution G T upstream_gene_variant LINC-JP 17 46995956 46995956 single base substitution A G downstream_gene_variant LINC-JP 17 46995956 46995956 single base substitution A G intron_variant LINC-JP 17 46995956 46995956 single base substitution A G upstream_gene_variant LINC-JP 17 47000817 47000817 single base substitution A C downstream_gene_variant LINC-JP 17 47000817 47000817 single base substitution A C intron_variant LINC-JP 17 47005087 47005087 single base substitution G A 3_prime_UTR_variant LINC-JP 17 47005087 47005087 single base substitution G A downstream_gene_variant LINC-JP 17 47005087 47005087 single base substitution G A exon_variant LINC-JP 17 47007053 47007053 single base substitution C T downstream_gene_variant LIRI-JP 17 46983011 46983011 single base substitution T C upstream_gene_variant LIRI-JP 17 46983383 46983383 single base substitution G T upstream_gene_variant LIRI-JP 17 46987535 46987535 single base substitution A G intron_variant LIRI-JP 17 46987535 46987535 single base substitution A G upstream_gene_variant LIRI-JP 17 46990998 46990998 single base substitution A T intron_variant LIRI-JP 17 46990998 46990998 single base substitution A T upstream_gene_variant LIRI-JP 17 46991844 46991844 single base substitution G A intron_variant LIRI-JP 17 46991844 46991844 single base substitution G A upstream_gene_variant LIRI-JP 17 46994277 46994277 single base substitution A G downstream_gene_variant LIRI-JP 17 46994277 46994277 single base substitution A G intron_variant LIRI-JP 17 46994277 46994277 single base substitution A G upstream_gene_variant LIRI-JP 17 46994401 46994401 single base substitution G T downstream_gene_variant LIRI-JP 17 46994401 46994401 single base substitution G T intron_variant LIRI-JP 17 46994401 46994401 single base substitution G T upstream_gene_variant LIRI-JP 17 46994617 46994617 single base substitution A C downstream_gene_variant LIRI-JP 17 46994617 46994617 single base substitution A C intron_variant LIRI-JP 17 46994617 46994617 single base substitution A C upstream_gene_variant LIRI-JP 17 46995332 46995332 single base substitution A G downstream_gene_variant LIRI-JP 17 46995332 46995332 single base substitution A G intron_variant LIRI-JP 17 46995332 46995332 single base substitution A G upstream_gene_variant LIRI-JP 17 46997542 46997542 single base substitution C A downstream_gene_variant LIRI-JP 17 46997542 46997542 single base substitution C A intron_variant LIRI-JP 17 46997542 46997542 single base substitution C A upstream_gene_variant LIRI-JP 17 46998848 46998848 single base substitution T G downstream_gene_variant LIRI-JP 17 46998848 46998848 single base substitution T G intron_variant LIRI-JP 17 47007345 47007345 single base substitution C A downstream_gene_variant LIRI-JP 17 47007872 47007872 single base substitution T G downstream_gene_variant LIRI-JP 17 47007932 47007932 single base substitution C T downstream_gene_variant LIRI-JP 17 47008492 47008492 single base substitution T C downstream_gene_variant LIRI-JP 17 47008806 47008806 single base substitution A T downstream_gene_variant LIRI-JP 17 47009688 47009688 single base substitution A C downstream_gene_variant LIRI-JP 17 47011412 47011412 single base substitution T G downstream_gene_variant LUSC-KR 17 46983118 46983118 single base substitution C A upstream_gene_variant LUSC-KR 17 46983606 46983606 single base substitution C A upstream_gene_variant LUSC-KR 17 46990296 46990296 single base substitution G A exon_variant LUSC-KR 17 46990296 46990296 single base substitution G A intron_variant LUSC-KR 17 46990296 46990296 single base substitution G A missense_variant R164Q 491G>A LUSC-KR 17 46990296 46990296 single base substitution G A missense_variant R56Q 167G>A LUSC-KR 17 46990296 46990296 single base substitution G A upstream_gene_variant LUSC-KR 17 46993667 46993667 single base substitution T G downstream_gene_variant LUSC-KR 17 46993667 46993667 single base substitution T G intron_variant LUSC-KR 17 46993667 46993667 single base substitution T G upstream_gene_variant LUSC-KR 17 46998607 46998607 single base substitution G A 3_prime_UTR_variant LUSC-KR 17 46998607 46998607 single base substitution G A exon_variant LUSC-KR 17 46998607 46998607 single base substitution G A missense_variant G15E 44G>A LUSC-KR 17 46998607 46998607 single base substitution G A missense_variant G172E 515G>A LUSC-KR 17 46998607 46998607 single base substitution G A missense_variant G259E 776G>A LUSC-KR 17 47000691 47000691 single base substitution A T downstream_gene_variant LUSC-KR 17 47000691 47000691 single base substitution A T intron_variant LUSC-KR 17 47007003 47007003 single base substitution G A downstream_gene_variant LUSC-US 17 47004450 47004450 single base substitution G T 3_prime_UTR_variant LUSC-US 17 47004450 47004450 single base substitution G T downstream_gene_variant LUSC-US 17 47004450 47004450 single base substitution G T exon_variant LUSC-US 17 47004450 47004450 single base substitution G T missense_variant S340I 1019G>T MALY-DE 17 46987271 46987271 single base substitution C T intron_variant MALY-DE 17 46987271 46987271 single base substitution C T upstream_gene_variant MALY-DE 17 46999403 46999411 deletion of <=200bp ATGGTGAAT - downstream_gene_variant MALY-DE 17 46999403 46999411 deletion of <=200bp ATGGTGAAT - intron_variant MALY-DE 17 47005927 47005927 single base substitution G C 3_prime_UTR_variant MALY-DE 17 47005927 47005927 single base substitution G C downstream_gene_variant MALY-DE 17 47005927 47005927 single base substitution G C exon_variant MALY-DE 17 47007659 47007659 single base substitution A T downstream_gene_variant MALY-DE 17 47007755 47007755 single base substitution T A downstream_gene_variant MALY-DE 17 47008336 47008336 single base substitution A C downstream_gene_variant MALY-DE 17 47008570 47008570 single base substitution A T downstream_gene_variant MALY-DE 17 47009907 47009907 single base substitution G A downstream_gene_variant MELA-AU 17 46981156 46981156 single base substitution G A upstream_gene_variant MELA-AU 17 46981200 46981200 single base substitution C T upstream_gene_variant MELA-AU 17 46981330 46981330 single base substitution G A upstream_gene_variant MELA-AU 17 46981515 46981515 single base substitution G A upstream_gene_variant MELA-AU 17 46982242 46982242 single base substitution C T upstream_gene_variant MELA-AU 17 46982303 46982303 single base substitution C T upstream_gene_variant MELA-AU 17 46983329 46983329 single base substitution T A upstream_gene_variant MELA-AU 17 46983902 46983902 single base substitution G A upstream_gene_variant MELA-AU 17 46984075 46984075 single base substitution A G upstream_gene_variant MELA-AU 17 46984704 46984704 single base substitution G A upstream_gene_variant MELA-AU 17 46984800 46984800 single base substitution G A upstream_gene_variant MELA-AU 17 46985669 46985669 single base substitution G A upstream_gene_variant MELA-AU 17 46986048 46986048 single base substitution C T synonymous_variant G61G 183C>T MELA-AU 17 46986048 46986048 single base substitution C T upstream_gene_variant MELA-AU 17 46986835 46986835 single base substitution C T intron_variant MELA-AU 17 46986835 46986835 single base substitution C T upstream_gene_variant MELA-AU 17 46989139 46989139 single base substitution C G exon_variant MELA-AU 17 46989139 46989139 single base substitution C G intron_variant MELA-AU 17 46989139 46989139 single base substitution C G upstream_gene_variant MELA-AU 17 46989934 46989934 single base substitution G C exon_variant MELA-AU 17 46989934 46989934 single base substitution G C intron_variant MELA-AU 17 46989934 46989934 single base substitution G C upstream_gene_variant MELA-AU 17 46991003 46991003 single base substitution C T intron_variant MELA-AU 17 46991003 46991003 single base substitution C T upstream_gene_variant MELA-AU 17 46991386 46991386 single base substitution C T intron_variant MELA-AU 17 46991386 46991386 single base substitution C T upstream_gene_variant MELA-AU 17 46991669 46991669 single base substitution C T intron_variant MELA-AU 17 46991669 46991669 single base substitution C T upstream_gene_variant MELA-AU 17 46991955 46991955 single base substitution G A intron_variant MELA-AU 17 46991955 46991955 single base substitution G A upstream_gene_variant MELA-AU 17 46992104 46992104 single base substitution C T intron_variant MELA-AU 17 46992104 46992104 single base substitution C T upstream_gene_variant MELA-AU 17 46992274 46992275 multiple base substitution (>=2bp and <=200bp) TC CT intron_variant MELA-AU 17 46992274 46992275 multiple base substitution (>=2bp and <=200bp) TC CT upstream_gene_variant MELA-AU 17 46992442 46992443 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 46992442 46992443 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 46993574 46993574 single base substitution G A downstream_gene_variant MELA-AU 17 46993574 46993574 single base substitution G A intron_variant MELA-AU 17 46993574 46993574 single base substitution G A upstream_gene_variant MELA-AU 17 46993649 46993649 single base substitution C T downstream_gene_variant MELA-AU 17 46993649 46993649 single base substitution C T intron_variant MELA-AU 17 46993649 46993649 single base substitution C T upstream_gene_variant MELA-AU 17 46993808 46993808 single base substitution T C downstream_gene_variant MELA-AU 17 46993808 46993808 single base substitution T C intron_variant MELA-AU 17 46993808 46993808 single base substitution T C upstream_gene_variant MELA-AU 17 46993815 46993815 single base substitution A G downstream_gene_variant MELA-AU 17 46993815 46993815 single base substitution A G intron_variant MELA-AU 17 46993815 46993815 single base substitution A G upstream_gene_variant MELA-AU 17 46994195 46994195 single base substitution A C downstream_gene_variant MELA-AU 17 46994195 46994195 single base substitution A C intron_variant MELA-AU 17 46994195 46994195 single base substitution A C upstream_gene_variant MELA-AU 17 46994792 46994792 single base substitution G A downstream_gene_variant MELA-AU 17 46994792 46994792 single base substitution G A intron_variant MELA-AU 17 46994792 46994792 single base substitution G A upstream_gene_variant MELA-AU 17 46995059 46995059 single base substitution C T downstream_gene_variant MELA-AU 17 46995059 46995059 single base substitution C T intron_variant MELA-AU 17 46995059 46995059 single base substitution C T upstream_gene_variant MELA-AU 17 46995322 46995322 single base substitution G A downstream_gene_variant MELA-AU 17 46995322 46995322 single base substitution G A intron_variant MELA-AU 17 46995322 46995322 single base substitution G A upstream_gene_variant MELA-AU 17 46995787 46995787 single base substitution C T downstream_gene_variant MELA-AU 17 46995787 46995787 single base substitution C T intron_variant MELA-AU 17 46995787 46995787 single base substitution C T upstream_gene_variant MELA-AU 17 46996942 46996942 single base substitution C T downstream_gene_variant MELA-AU 17 46996942 46996942 single base substitution C T intron_variant MELA-AU 17 46996942 46996942 single base substitution C T upstream_gene_variant MELA-AU 17 46996974 46996974 single base substitution G A downstream_gene_variant MELA-AU 17 46996974 46996974 single base substitution G A intron_variant MELA-AU 17 46996974 46996974 single base substitution G A upstream_gene_variant MELA-AU 17 46997482 46997482 single base substitution C T downstream_gene_variant MELA-AU 17 46997482 46997482 single base substitution C T intron_variant MELA-AU 17 46997482 46997482 single base substitution C T upstream_gene_variant MELA-AU 17 46997878 46997878 single base substitution A G downstream_gene_variant MELA-AU 17 46997878 46997878 single base substitution A G intron_variant MELA-AU 17 46997878 46997878 single base substitution A G upstream_gene_variant MELA-AU 17 46997891 46997891 single base substitution C T downstream_gene_variant MELA-AU 17 46997891 46997891 single base substitution C T intron_variant MELA-AU 17 46997891 46997891 single base substitution C T upstream_gene_variant MELA-AU 17 46998667 46998667 single base substitution T A downstream_gene_variant MELA-AU 17 46998667 46998667 single base substitution T A intron_variant MELA-AU 17 46998669 46998669 single base substitution C T downstream_gene_variant MELA-AU 17 46998669 46998669 single base substitution C T intron_variant MELA-AU 17 46999482 46999482 single base substitution C T downstream_gene_variant MELA-AU 17 46999482 46999482 single base substitution C T intron_variant MELA-AU 17 46999664 46999664 single base substitution A T downstream_gene_variant MELA-AU 17 46999664 46999664 single base substitution A T intron_variant MELA-AU 17 47000227 47000227 single base substitution C T 3_prime_UTR_variant MELA-AU 17 47000227 47000227 single base substitution C T downstream_gene_variant MELA-AU 17 47000227 47000227 single base substitution C T exon_variant MELA-AU 17 47000227 47000227 single base substitution C T synonymous_variant S274S 822C>T MELA-AU 17 47000227 47000227 single base substitution C T synonymous_variant S30S 90C>T MELA-AU 17 47000231 47000231 single base substitution C T 3_prime_UTR_variant MELA-AU 17 47000231 47000231 single base substitution C T downstream_gene_variant MELA-AU 17 47000231 47000231 single base substitution C T exon_variant MELA-AU 17 47000231 47000231 single base substitution C T synonymous_variant L276L 826C>T MELA-AU 17 47000231 47000231 single base substitution C T synonymous_variant L32L 94C>T MELA-AU 17 47000925 47000925 single base substitution C T downstream_gene_variant MELA-AU 17 47000925 47000925 single base substitution C T intron_variant MELA-AU 17 47001051 47001051 single base substitution C T downstream_gene_variant MELA-AU 17 47001051 47001051 single base substitution C T intron_variant MELA-AU 17 47001099 47001123 deletion of <=200bp TTTTTTTTTTTTTAAAGGCAGGTTC - downstream_gene_variant MELA-AU 17 47001099 47001123 deletion of <=200bp TTTTTTTTTTTTTAAAGGCAGGTTC - intron_variant MELA-AU 17 47001427 47001427 single base substitution C A downstream_gene_variant MELA-AU 17 47001427 47001427 single base substitution C A intron_variant MELA-AU 17 47001572 47001572 single base substitution C T downstream_gene_variant MELA-AU 17 47001572 47001572 single base substitution C T intron_variant MELA-AU 17 47002242 47002242 single base substitution A G downstream_gene_variant MELA-AU 17 47002242 47002242 single base substitution A G intron_variant MELA-AU 17 47002257 47002257 single base substitution C T downstream_gene_variant MELA-AU 17 47002257 47002257 single base substitution C T intron_variant MELA-AU 17 47002678 47002678 single base substitution G T downstream_gene_variant MELA-AU 17 47002678 47002678 single base substitution G T intron_variant MELA-AU 17 47004270 47004270 single base substitution C T downstream_gene_variant MELA-AU 17 47004270 47004270 single base substitution C T intron_variant MELA-AU 17 47004557 47004557 single base substitution C T 3_prime_UTR_variant MELA-AU 17 47004557 47004557 single base substitution C T downstream_gene_variant MELA-AU 17 47004557 47004557 single base substitution C T exon_variant MELA-AU 17 47006115 47006115 single base substitution C T 3_prime_UTR_variant MELA-AU 17 47006115 47006115 single base substitution C T downstream_gene_variant MELA-AU 17 47006115 47006115 single base substitution C T exon_variant MELA-AU 17 47006235 47006235 single base substitution C T 3_prime_UTR_variant MELA-AU 17 47006235 47006235 single base substitution C T downstream_gene_variant MELA-AU 17 47006235 47006235 single base substitution C T exon_variant MELA-AU 17 47006719 47006719 single base substitution G A downstream_gene_variant MELA-AU 17 47008754 47008754 single base substitution G A downstream_gene_variant MELA-AU 17 47009173 47009173 single base substitution G A downstream_gene_variant MELA-AU 17 47009175 47009175 single base substitution A G downstream_gene_variant MELA-AU 17 47009977 47009977 single base substitution T A downstream_gene_variant MELA-AU 17 47011265 47011265 single base substitution C T downstream_gene_variant ORCA-IN 17 47010708 47010708 single base substitution T C downstream_gene_variant OV-AU 17 46980802 46980802 single base substitution T C upstream_gene_variant OV-AU 17 46990038 46990038 single base substitution G C exon_variant OV-AU 17 46990038 46990038 single base substitution G C intron_variant OV-AU 17 46990038 46990038 single base substitution G C upstream_gene_variant OV-AU 17 47002785 47002785 single base substitution T C downstream_gene_variant OV-AU 17 47002785 47002785 single base substitution T C intron_variant OV-AU 17 47006044 47006044 single base substitution C T 3_prime_UTR_variant OV-AU 17 47006044 47006044 single base substitution C T downstream_gene_variant OV-AU 17 47006044 47006044 single base substitution C T exon_variant OV-AU 17 47010309 47010309 single base substitution G A downstream_gene_variant PACA-AU 17 46982892 46982892 single base substitution C T upstream_gene_variant PACA-AU 17 46983137 46983137 deletion of <=200bp A - upstream_gene_variant PACA-AU 17 46989844 46989844 single base substitution A G exon_variant PACA-AU 17 46989844 46989844 single base substitution A G intron_variant PACA-AU 17 46989844 46989844 single base substitution A G upstream_gene_variant PACA-AU 17 46990136 46990136 single base substitution C T exon_variant PACA-AU 17 46990136 46990136 single base substitution C T intron_variant PACA-AU 17 46990136 46990136 single base substitution C T upstream_gene_variant PACA-AU 17 46997388 46997388 single base substitution T A downstream_gene_variant PACA-AU 17 46997388 46997388 single base substitution T A intron_variant PACA-AU 17 46997388 46997388 single base substitution T A upstream_gene_variant PACA-AU 17 47000513 47000513 single base substitution C G downstream_gene_variant PACA-AU 17 47000513 47000513 single base substitution C G intron_variant PACA-AU 17 47001557 47001557 single base substitution C T downstream_gene_variant PACA-AU 17 47001557 47001557 single base substitution C T intron_variant PACA-AU 17 47001601 47001601 single base substitution C G downstream_gene_variant PACA-AU 17 47001601 47001601 single base substitution C G intron_variant PACA-CA 17 46988411 46988411 single base substitution A T intron_variant PACA-CA 17 46988411 46988411 single base substitution A T upstream_gene_variant PACA-CA 17 46989622 46989622 single base substitution G T exon_variant PACA-CA 17 46989622 46989622 single base substitution G T intron_variant PACA-CA 17 46989622 46989622 single base substitution G T upstream_gene_variant PACA-CA 17 46996475 46996475 single base substitution T A downstream_gene_variant PACA-CA 17 46996475 46996475 single base substitution T A intron_variant PACA-CA 17 46996475 46996475 single base substitution T A upstream_gene_variant PACA-CA 17 46997163 46997163 single base substitution G A downstream_gene_variant PACA-CA 17 46997163 46997163 single base substitution G A intron_variant PACA-CA 17 46997163 46997163 single base substitution G A upstream_gene_variant PACA-CA 17 47001935 47001935 single base substitution C T downstream_gene_variant PACA-CA 17 47001935 47001935 single base substitution C T intron_variant PACA-CA 17 47002754 47002754 deletion of <=200bp C - downstream_gene_variant PACA-CA 17 47002754 47002754 deletion of <=200bp C - intron_variant PACA-CA 17 47003606 47003612 deletion of <=200bp TTACCAT - downstream_gene_variant PACA-CA 17 47003606 47003612 deletion of <=200bp TTACCAT - intron_variant PACA-CA 17 47003930 47003930 single base substitution G A downstream_gene_variant PACA-CA 17 47003930 47003930 single base substitution G A intron_variant PACA-CA 17 47007497 47007497 single base substitution G A downstream_gene_variant PACA-CA 17 47010755 47010755 single base substitution T C downstream_gene_variant PAEN-IT 17 46998100 46998100 single base substitution T C downstream_gene_variant PAEN-IT 17 46998100 46998100 single base substitution T C intron_variant PAEN-IT 17 46998100 46998100 single base substitution T C upstream_gene_variant PBCA-DE 17 46987583 46987583 single base substitution C A intron_variant PBCA-DE 17 46987583 46987583 single base substitution C A upstream_gene_variant PBCA-DE 17 46993572 46993572 insertion of <=200bp - G downstream_gene_variant PBCA-DE 17 46993572 46993572 insertion of <=200bp - G intron_variant PBCA-DE 17 46993572 46993572 insertion of <=200bp - G upstream_gene_variant PBCA-DE 17 47000839 47000839 deletion of <=200bp A - downstream_gene_variant PBCA-DE 17 47000839 47000839 deletion of <=200bp A - intron_variant PBCA-DE 17 47002426 47002426 single base substitution C G downstream_gene_variant PBCA-DE 17 47002426 47002426 single base substitution C G intron_variant PBCA-DE 17 47007750 47007750 single base substitution C T downstream_gene_variant PRAD-CA 17 46985402 46985402 single base substitution A T upstream_gene_variant PRAD-CA 17 46990859 46990859 single base substitution G A intron_variant PRAD-CA 17 46990859 46990859 single base substitution G A upstream_gene_variant PRAD-CA 17 47006478 47006478 single base substitution C T downstream_gene_variant PRAD-UK 17 46989504 46989504 deletion of <=200bp T - exon_variant PRAD-UK 17 46989504 46989504 deletion of <=200bp T - intron_variant PRAD-UK 17 46989504 46989504 deletion of <=200bp T - upstream_gene_variant PRAD-UK 17 46989542 46989560 deletion of <=200bp CAATAGGTTTGATCCTCTG - exon_variant PRAD-UK 17 46989542 46989560 deletion of <=200bp CAATAGGTTTGATCCTCTG - intron_variant PRAD-UK 17 46989542 46989560 deletion of <=200bp CAATAGGTTTGATCCTCTG - upstream_gene_variant PRAD-UK 17 46990706 46990706 deletion of <=200bp T - intron_variant PRAD-UK 17 46990706 46990706 deletion of <=200bp T - upstream_gene_variant PRAD-UK 17 46999708 46999708 single base substitution C A downstream_gene_variant PRAD-UK 17 46999708 46999708 single base substitution C A intron_variant PRAD-UK 17 46999709 46999709 single base substitution A C downstream_gene_variant PRAD-UK 17 46999709 46999709 single base substitution A C intron_variant RECA-EU 17 46988483 46988483 single base substitution G A intron_variant RECA-EU 17 46988483 46988483 single base substitution G A upstream_gene_variant RECA-EU 17 46988726 46988726 single base substitution C T exon_variant RECA-EU 17 46988726 46988726 single base substitution C T intron_variant RECA-EU 17 46988726 46988726 single base substitution C T upstream_gene_variant RECA-EU 17 46991373 46991373 single base substitution C T intron_variant RECA-EU 17 46991373 46991373 single base substitution C T upstream_gene_variant RECA-EU 17 47003116 47003116 single base substitution A G downstream_gene_variant RECA-EU 17 47003116 47003116 single base substitution A G intron_variant RECA-EU 17 47009277 47009277 single base substitution C T downstream_gene_variant SKCA-BR 17 46982517 46982518 deletion of <=200bp AG - upstream_gene_variant SKCA-BR 17 46986616 46986616 single base substitution C T intron_variant SKCA-BR 17 46986616 46986616 single base substitution C T upstream_gene_variant SKCA-BR 17 46988288 46988288 single base substitution C T intron_variant SKCA-BR 17 46988288 46988288 single base substitution C T upstream_gene_variant SKCA-BR 17 46988304 46988304 single base substitution G A intron_variant SKCA-BR 17 46988304 46988304 single base substitution G A upstream_gene_variant SKCA-BR 17 46991292 46991292 single base substitution T A intron_variant SKCA-BR 17 46991292 46991292 single base substitution T A upstream_gene_variant SKCA-BR 17 46991293 46991293 single base substitution C A intron_variant SKCA-BR 17 46991293 46991293 single base substitution C A upstream_gene_variant SKCA-BR 17 46996434 46996434 single base substitution G C downstream_gene_variant SKCA-BR 17 46996434 46996434 single base substitution G C intron_variant SKCA-BR 17 46996434 46996434 single base substitution G C upstream_gene_variant SKCA-BR 17 47000003 47000003 single base substitution C T downstream_gene_variant SKCA-BR 17 47000003 47000003 single base substitution C T intron_variant SKCA-BR 17 47002902 47002902 single base substitution C T downstream_gene_variant SKCA-BR 17 47002902 47002902 single base substitution C T intron_variant SKCA-BR 17 47003840 47003840 single base substitution T C downstream_gene_variant SKCA-BR 17 47003840 47003840 single base substitution T C intron_variant SKCA-BR 17 47004090 47004090 single base substitution G A downstream_gene_variant SKCA-BR 17 47004090 47004090 single base substitution G A intron_variant SKCA-BR 17 47005193 47005193 single base substitution A G 3_prime_UTR_variant SKCA-BR 17 47005193 47005193 single base substitution A G downstream_gene_variant SKCA-BR 17 47005193 47005193 single base substitution A G exon_variant SKCA-BR 17 47005410 47005410 single base substitution A C 3_prime_UTR_variant SKCA-BR 17 47005410 47005410 single base substitution A C downstream_gene_variant SKCA-BR 17 47005410 47005410 single base substitution A C exon_variant SKCA-BR 17 47010372 47010372 single base substitution C T downstream_gene_variant SKCM-US 17 46990249 46990249 single base substitution C T exon_variant SKCM-US 17 46990249 46990249 single base substitution C T intron_variant SKCM-US 17 46990249 46990249 single base substitution C T synonymous_variant F148F 444C>T SKCM-US 17 46990249 46990249 single base substitution C T synonymous_variant F40F 120C>T SKCM-US 17 46990249 46990249 single base substitution C T upstream_gene_variant SKCM-US 17 46998547 46998547 single base substitution A G 3_prime_UTR_variant SKCM-US 17 46998547 46998547 single base substitution A G exon_variant SKCM-US 17 46998547 46998547 single base substitution A G missense_variant N152S 455A>G SKCM-US 17 46998547 46998547 single base substitution A G missense_variant N239S 716A>G SKCM-US 17 46998547 46998547 single base substitution A G upstream_gene_variant SKCM-US 17 47000226 47000226 single base substitution C T 3_prime_UTR_variant SKCM-US 17 47000226 47000226 single base substitution C T downstream_gene_variant SKCM-US 17 47000226 47000226 single base substitution C T exon_variant SKCM-US 17 47000226 47000226 single base substitution C T missense_variant S274F 821C>T SKCM-US 17 47000226 47000226 single base substitution C T missense_variant S30F 89C>T SKCM-US 17 47004478 47004478 single base substitution T C downstream_gene_variant SKCM-US 17 47004478 47004478 single base substitution T C exon_variant SKCM-US 17 47004478 47004478 single base substitution T C synonymous_variant H349H 1047T>C STAD-US 17 46998578 46998578 single base substitution C G 3_prime_UTR_variant STAD-US 17 46998578 46998578 single base substitution C G exon_variant STAD-US 17 46998578 46998578 single base substitution C G missense_variant I162M 486C>G STAD-US 17 46998578 46998578 single base substitution C G missense_variant I249M 747C>G STAD-US 17 46998578 46998578 single base substitution C G missense_variant I5M 15C>G THCA-SA 17 47005588 47005588 single base substitution C T 3_prime_UTR_variant THCA-SA 17 47005588 47005588 single base substitution C T downstream_gene_variant THCA-SA 17 47005588 47005588 single base substitution C T exon_variant UCEC-US 17 46990343 46990343 single base substitution A G exon_variant UCEC-US 17 46990343 46990343 single base substitution A G intron_variant UCEC-US 17 46990343 46990343 single base substitution A G missense_variant N180D 538A>G UCEC-US 17 46990343 46990343 single base substitution A G missense_variant N72D 214A>G UCEC-US 17 46990343 46990343 single base substitution A G upstream_gene_variant UCEC-US 17 47000242 47000242 single base substitution C T 3_prime_UTR_variant UCEC-US 17 47000242 47000242 single base substitution C T downstream_gene_variant UCEC-US 17 47000242 47000242 single base substitution C T exon_variant UCEC-US 17 47000242 47000242 single base substitution C T synonymous_variant Y279Y 837C>T UCEC-US 17 47000242 47000242 single base substitution C T synonymous_variant Y35Y 105C>T UCEC-US 17 47004419 47004419 single base substitution A C 3_prime_UTR_variant UCEC-US 17 47004419 47004419 single base substitution A C downstream_gene_variant UCEC-US 17 47004419 47004419 single base substitution A C exon_variant UCEC-US 17 47004419 47004419 single base substitution A C missense_variant N330H 988A>C UCEC-US 17 47004424 47004424 single base substitution G T 3_prime_UTR_variant UCEC-US 17 47004424 47004424 single base substitution G T downstream_gene_variant UCEC-US 17 47004424 47004424 single base substitution G T exon_variant UCEC-US 17 47004424 47004424 single base substitution G T missense_variant E331D 993G>T UCEC-US 17 47009026 47009026 single base substitution G A downstream_gene_variant UCEC-US 17 47009068 47009068 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EE-A3JI-06 COSM3518811 c.444C>T p.F148F Substitution - coding silent 17:48912887-48912887 + BD165T COSM5505927 c.738C>T p.H246H Substitution - coding silent 17:48921207-48921207 + T3021 COSM4738713 c.384G>C p.M128I Substitution - Missense 17:48910874-48910874 + Ad3 COSM4440929 c.475C>T p.P159S Substitution - Missense 17:48912918-48912918 + MO_1215 COSM5570632 c.364G>A p.V122I Substitution - Missense 17:48910854-48910854 + ZZUFHECRKL-G045T COSM5437806 c.846C>T p.Y282Y Substitution - coding silent 17:48922889-48922889 + T1743 COSM4738715 c.458G>A p.R153Q Substitution - Missense 17:48912901-48912901 + pfg008T COSM4754390 c.664T>C p.Y222H Substitution - Missense 17:48916161-48916161 + ESCC_170 COSM5649277 c.826C>A p.L276M Substitution - Missense 17:48922869-48922869 + Pat_01_A COSM5852842 c.604C>T p.P202S Substitution - Missense 17:48916101-48916101 + PT46 COSM5929788 c.589G>A p.G197R Substitution - Missense 17:48916086-48916086 + ESCC_142 COSM5643728 c.490C>T p.R164W Substitution - Missense 17:48912933-48912933 + TCGA-BS-A0UA-01 COSM3355989 c.837C>T p.Y279Y Substitution - coding silent 17:48922880-48922880 + TCGA-AN-A046-01 COSM3819882 c.457C>T p.R153W Substitution - Missense 17:48912900-48912900 + TCGA-CD-8535-01 COSM4067419 c.747C>G p.I249M Substitution - Missense 17:48921216-48921216 + TCGA-D1-A17Q-01 COSM3355989 c.837C>T p.Y279Y Substitution - coding silent 17:48922880-48922880 + TCGA-UB-A7MD-01 COSM4933087 c.324C>T p.I108I Substitution - coding silent 17:48910814-48910814 + PD24223a COSM5798134 c.391A>G p.I131V Substitution - Missense 17:48912834-48912834 + TCGA-D9-A6EC-06 COSM4401828 c.716A>G p.N239S Substitution - Missense 17:48921185-48921185 + YUOMEGA COSM5386609 c.1045C>T p.H349Y Substitution - Missense 17:48927114-48927114 + 05-P8068 COSM4268359 c.468C>T p.P156P Substitution - coding silent 17:48912911-48912911 + TCGA-EB-A430-01 COSM3518815 c.1047T>C p.H349H Substitution - coding silent 17:48927116-48927116 + J90_T COSM3958496 c.491G>A p.R164Q Substitution - Missense 17:48912934-48912934 + BD124T COSM5493603 c.961C>T p.R321C Substitution - Missense 17:48927030-48927030 + Gp5D COSM4268352 c.410G>A p.G137D Substitution - Missense 17:48912853-48912853 + SJHGG058_A COSM4971144 c.812delT p.M271fs*44 Deletion - Frameshift 17:48922855-48922855 + J11_T COSM3958498 c.776G>A p.G259E Substitution - Missense 17:48921245-48921245 + ESCC_BICR_008T COSM5428840 c.768G>A p.M256I Substitution - Missense 17:48921237-48921237 + VLTS-5 COSM5702878 c.548G>A p.R183H Substitution - Missense 17:48912991-48912991 + TCGA-D3-A5GO-06 COSM3518813 c.821C>T p.S274F Substitution - Missense 17:48922864-48922864 + sysucc-880T COSM5437806 c.846C>T p.Y282Y Substitution - coding silent 17:48922889-48922889 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.514297 17q21.32 611362

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.M128V c.382A>G 17 46988234 BRCA C T Missense p.P202S c.604C>T 17 46993463 ESCA C T Missense p.S341L c.1022C>T 17 47004453 BLCA C T Synonymous p.F148F c.444C>T 17 46990249 CM C T Synonymous p.L210L c.630C>T 17 46993489 CM G A SpliceAcceptorSNV . c.391-1G>A 17 46990195 BRCA G A Synonymous p.L352L c.1056G>A 17 47004487 ESCA G T Missense p.R164L c.491G>T 17 46990296 STAD G T Missense p.S340I c.1019G>T 17 47004450 LUSC G T Nonsense p.E225* c.673G>T 17 46993532 MM T C IntronicSNV . c.894+297T>C 17 47000596 CLL