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 ACC 17 80616520 80616520 + Missense_Mutation SNP T T C TCGA-OR-A5LB-01A-11D-A29I-10 TCGA-OR-A5LB-10A-01D-A29L-10 g.chr17:80616520T>C c.412A>G c.(412-414)Acg>Gcg p.T138A BLCA 17 80615888 80615888 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr17:80615888C>G c.688G>C c.(688-690)Ggc>Cgc p.G230R BLCA 17 80616443 80616443 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr17:80616443G>A c.489C>T c.(487-489)atC>atT p.I163I BLCA 17 80616472 80616472 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr17:80616472C>G c.460G>C c.(460-462)Gag>Cag p.E154Q BRCA 17 80615975 80615975 + Missense_Mutation SNP C C T TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 g.chr17:80615975C>T c.601G>A c.(601-603)Gtg>Atg p.V201M COAD 17 80615786 80615786 + Frame_Shift_Del DEL G G - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:80615786delG c.790delC c.(790-792)cagfs p.Q264fs COAD 17 80615938 80615938 + Missense_Mutation SNP G G A TCGA-AA-3956-01A-02W-0995-10 TCGA-AA-3956-10A-01W-0995-10 g.chr17:80615938G>A c.638C>T c.(637-639)cCg>cTg p.P213L COAD 17 80616540 80616540 + Missense_Mutation SNP G G T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr17:80616540G>T c.392C>A c.(391-393)gCg>gAg p.A131E COADREAD 17 80615786 80615786 + Frame_Shift_Del DEL G G - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:80615786delG c.790delC c.(790-792)cagfs p.Q264fs COADREAD 17 80615938 80615938 + Missense_Mutation SNP G G A TCGA-AA-3956-01A-02W-0995-10 TCGA-AA-3956-10A-01W-0995-10 g.chr17:80615938G>A c.638C>T c.(637-639)cCg>cTg p.P213L COADREAD 17 80616540 80616540 + Missense_Mutation SNP G G T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr17:80616540G>T c.392C>A c.(391-393)gCg>gAg p.A131E DLBC 17 80616397 80616397 + Missense_Mutation SNP C C T TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr17:80616397C>T c.535G>A c.(535-537)Ggg>Agg p.G179R HNSC 17 80615774 80615775 + Frame_Shift_Ins INS - - G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 g.chr17:80615774_80615775insG c.801_802insC c.(799-804)cccaaafs p.K268fs HNSC 17 80615805 80615805 + Silent SNP C C A TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr17:80615805C>A c.771G>T c.(769-771)gtG>gtT p.V257V HNSC 17 80622390 80622390 + Missense_Mutation SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr17:80622390C>T c.185G>A c.(184-186)cGg>cAg p.R62Q KIPAN 17 80615875 80615875 + Missense_Mutation SNP C C T TCGA-B4-5836-01A-11D-1669-08 TCGA-B4-5836-10A-01D-1669-08 g.chr17:80615875C>T c.701G>A c.(700-702)aGg>aAg p.R234K KIPAN 17 80617514 80617514 + Missense_Mutation SNP T T A TCGA-P4-A5E8-01A-11D-A28G-10 TCGA-P4-A5E8-11A-12D-A28G-10 g.chr17:80617514T>A c.284A>T c.(283-285)gAc>gTc p.D95V KIPAN 17 80622419 80622419 + Missense_Mutation SNP C C A TCGA-BP-4801-01A-02D-1421-08 TCGA-BP-4801-11A-01D-1421-08 g.chr17:80622419C>A c.156G>T c.(154-156)aaG>aaT p.K52N KIPAN 17 80656364 80656364 + Missense_Mutation SNP C C G TCGA-5P-A9K3-01A-11D-A42J-10 TCGA-5P-A9K3-10A-01D-A42M-10 g.chr17:80656364C>G c.109G>C c.(109-111)Ggc>Cgc p.G37R KIRC 17 80615875 80615875 + Missense_Mutation SNP C C T TCGA-B4-5836-01A-11D-1669-08 TCGA-B4-5836-10A-01D-1669-08 g.chr17:80615875C>T c.701G>A c.(700-702)aGg>aAg p.R234K KIRC 17 80622419 80622419 + Missense_Mutation SNP C C A TCGA-BP-4801-01A-02D-1421-08 TCGA-BP-4801-11A-01D-1421-08 g.chr17:80622419C>A c.156G>T c.(154-156)aaG>aaT p.K52N KIRP 17 80617514 80617514 + Missense_Mutation SNP T T A TCGA-P4-A5E8-01A-11D-A28G-10 TCGA-P4-A5E8-11A-12D-A28G-10 g.chr17:80617514T>A c.284A>T c.(283-285)gAc>gTc p.D95V KIRP 17 80656364 80656364 + Missense_Mutation SNP C C G TCGA-5P-A9K3-01A-11D-A42J-10 TCGA-5P-A9K3-10A-01D-A42M-10 g.chr17:80656364C>G c.109G>C c.(109-111)Ggc>Cgc p.G37R LIHC 17 80615904 80615904 + Frame_Shift_Del DEL G G - TCGA-DD-A115-01A-11D-A12Z-10 TCGA-DD-A115-10A-01D-A12Z-10 g.chr17:80615904delG c.672delC c.(670-672)tccfs p.S224fs LUAD 17 80616388 80616388 + Missense_Mutation SNP G G A TCGA-99-8025-01A-11D-2238-08 TCGA-99-8025-10A-01D-2238-08 g.chr17:80616388G>A c.544C>T c.(544-546)Cgg>Tgg p.R182W LUAD 17 80622412 80622412 + Missense_Mutation SNP T T A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 g.chr17:80622412T>A c.163A>T c.(163-165)Acc>Tcc p.T55S LUAD 17 80622416 80622416 + Silent SNP C C A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr17:80622416C>A c.159G>T c.(157-159)acG>acT p.T53T LUSC 17 80618872 80618872 + Silent SNP C C A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 g.chr17:80618872C>A c.255G>T c.(253-255)cgG>cgT p.R85R PAAD 17 80616499 80616499 + Missense_Mutation SNP C C T TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chr17:80616499C>T c.433G>A c.(433-435)Gcc>Acc p.A145T SKCM 17 80616413 80616413 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 g.chr17:80616413G>A c.519C>T c.(517-519)atC>atT p.I173I SKCM 17 80616413 80616413 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr17:80616413G>A c.519C>T c.(517-519)atC>atT p.I173I SKCM 17 80616565 80616565 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr17:80616565G>A c.367C>T c.(367-369)Ctg>Ttg p.L123L

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 80617461 80617461 single base substitution C T 5_prime_UTR_variant BLCA-CN 17 80617461 80617461 single base substitution C T downstream_gene_variant BLCA-CN 17 80617461 80617461 single base substitution C T exon_variant BLCA-CN 17 80617461 80617461 single base substitution C T missense_variant D113N 337G>A BLCA-CN 17 80617461 80617461 single base substitution C T missense_variant D40N 118G>A BLCA-CN 17 80617461 80617461 single base substitution C T upstream_gene_variant BLCA-US 17 80616443 80616443 single base substitution G A 5_prime_UTR_variant BLCA-US 17 80616443 80616443 single base substitution G A downstream_gene_variant BLCA-US 17 80616443 80616443 single base substitution G A exon_variant BLCA-US 17 80616443 80616443 single base substitution G A intron_variant BLCA-US 17 80616443 80616443 single base substitution G A splice_region_variant BLCA-US 17 80616443 80616443 single base substitution G A synonymous_variant I163I 489C>T BLCA-US 17 80616443 80616443 single base substitution G A upstream_gene_variant BLCA-US 17 80616472 80616472 single base substitution C G 5_prime_UTR_variant BLCA-US 17 80616472 80616472 single base substitution C G downstream_gene_variant BLCA-US 17 80616472 80616472 single base substitution C G exon_variant BLCA-US 17 80616472 80616472 single base substitution C G intron_variant BLCA-US 17 80616472 80616472 single base substitution C G missense_variant E154Q 460G>C BLCA-US 17 80616472 80616472 single base substitution C G upstream_gene_variant BOCA-FR 17 80624583 80624583 single base substitution G T intron_variant BOCA-FR 17 80624583 80624583 single base substitution G T upstream_gene_variant BOCA-FR 17 80624672 80624672 single base substitution C A intron_variant BOCA-FR 17 80624672 80624672 single base substitution C A upstream_gene_variant BRCA-EU 17 80608427 80608427 single base substitution G C downstream_gene_variant BRCA-EU 17 80610574 80610574 single base substitution G C downstream_gene_variant BRCA-EU 17 80611506 80611506 single base substitution T G downstream_gene_variant BRCA-EU 17 80611780 80611780 single base substitution C T downstream_gene_variant BRCA-EU 17 80612046 80612046 single base substitution C T downstream_gene_variant BRCA-EU 17 80613137 80613137 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 80613137 80613137 single base substitution C T downstream_gene_variant BRCA-EU 17 80613137 80613137 single base substitution C T exon_variant BRCA-EU 17 80613308 80613308 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 80613308 80613308 single base substitution C G downstream_gene_variant BRCA-EU 17 80613308 80613308 single base substitution C G exon_variant BRCA-EU 17 80614269 80614269 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 80614269 80614269 single base substitution C T downstream_gene_variant BRCA-EU 17 80614269 80614269 single base substitution C T intron_variant BRCA-EU 17 80617571 80617571 single base substitution G A downstream_gene_variant BRCA-EU 17 80617571 80617571 single base substitution G A exon_variant BRCA-EU 17 80617571 80617571 single base substitution G A intron_variant BRCA-EU 17 80617571 80617571 single base substitution G A upstream_gene_variant BRCA-EU 17 80619703 80619703 single base substitution C T intron_variant BRCA-EU 17 80619703 80619703 single base substitution C T upstream_gene_variant BRCA-EU 17 80620013 80620013 single base substitution G A intron_variant BRCA-EU 17 80620013 80620013 single base substitution G A upstream_gene_variant BRCA-EU 17 80620353 80620353 single base substitution G A intron_variant BRCA-EU 17 80620353 80620353 single base substitution G A upstream_gene_variant BRCA-EU 17 80620714 80620714 single base substitution G A intron_variant BRCA-EU 17 80620714 80620714 single base substitution G A upstream_gene_variant BRCA-EU 17 80623999 80623999 single base substitution G A intron_variant BRCA-EU 17 80623999 80623999 single base substitution G A upstream_gene_variant BRCA-EU 17 80624069 80624069 single base substitution C T intron_variant BRCA-EU 17 80624069 80624069 single base substitution C T upstream_gene_variant BRCA-EU 17 80625068 80625068 single base substitution C A intron_variant BRCA-EU 17 80625068 80625068 single base substitution C A upstream_gene_variant BRCA-EU 17 80625631 80625631 single base substitution G A intron_variant BRCA-EU 17 80625631 80625631 single base substitution G A upstream_gene_variant BRCA-EU 17 80627090 80627090 single base substitution G A intron_variant BRCA-EU 17 80627090 80627090 single base substitution G A upstream_gene_variant BRCA-EU 17 80627512 80627512 single base substitution G C intron_variant BRCA-EU 17 80627512 80627512 single base substitution G C upstream_gene_variant BRCA-EU 17 80627727 80627727 single base substitution A G intron_variant BRCA-EU 17 80627727 80627727 single base substitution A G upstream_gene_variant BRCA-EU 17 80628195 80628195 single base substitution G T intron_variant BRCA-EU 17 80630384 80630384 single base substitution C T intron_variant BRCA-EU 17 80630555 80630555 insertion of <=200bp - ATGA intron_variant BRCA-EU 17 80630575 80630575 insertion of <=200bp - C intron_variant BRCA-EU 17 80630580 80630580 single base substitution G C intron_variant BRCA-EU 17 80630625 80630625 single base substitution G C intron_variant BRCA-EU 17 80630975 80630975 single base substitution G A intron_variant BRCA-EU 17 80630999 80630999 single base substitution G C intron_variant BRCA-EU 17 80633931 80633931 insertion of <=200bp - CACCAATGT intron_variant BRCA-EU 17 80634237 80634237 single base substitution C G intron_variant BRCA-EU 17 80634734 80634776 multiple base substitution (>=2bp and <=200bp) TCAGGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTA TCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTAGGATTA intron_variant BRCA-EU 17 80635594 80635594 single base substitution G A intron_variant BRCA-EU 17 80639197 80639197 single base substitution T G intron_variant BRCA-EU 17 80639817 80639817 single base substitution G A intron_variant BRCA-EU 17 80639870 80639870 single base substitution C T intron_variant BRCA-EU 17 80639936 80639936 single base substitution G A intron_variant BRCA-EU 17 80641736 80641736 single base substitution G A intron_variant BRCA-EU 17 80642276 80642276 single base substitution C G intron_variant BRCA-EU 17 80642459 80642459 single base substitution G A intron_variant BRCA-EU 17 80642584 80642584 single base substitution G A intron_variant BRCA-EU 17 80643401 80643401 single base substitution C T intron_variant BRCA-EU 17 80644258 80644258 single base substitution G C intron_variant BRCA-EU 17 80644539 80644539 single base substitution G T intron_variant BRCA-EU 17 80644742 80644742 single base substitution G C intron_variant BRCA-EU 17 80644855 80644855 single base substitution G T intron_variant BRCA-EU 17 80644892 80644892 single base substitution C G intron_variant BRCA-EU 17 80645661 80645661 single base substitution C A intron_variant BRCA-EU 17 80645988 80645988 single base substitution C G intron_variant BRCA-EU 17 80646146 80646146 single base substitution G A intron_variant BRCA-EU 17 80648305 80648305 single base substitution C T intron_variant BRCA-EU 17 80648978 80648978 single base substitution C A intron_variant BRCA-EU 17 80649153 80649153 single base substitution G A intron_variant BRCA-EU 17 80650590 80650590 single base substitution T A intron_variant BRCA-EU 17 80651892 80651892 single base substitution G C intron_variant BRCA-EU 17 80652122 80652122 single base substitution C G intron_variant BRCA-EU 17 80652362 80652362 single base substitution C A intron_variant BRCA-EU 17 80652395 80652395 single base substitution G C intron_variant BRCA-EU 17 80652396 80652396 single base substitution A C intron_variant BRCA-EU 17 80652677 80652677 single base substitution G C intron_variant BRCA-EU 17 80653137 80653137 single base substitution A G intron_variant BRCA-EU 17 80653956 80653956 single base substitution G A intron_variant BRCA-EU 17 80654204 80654204 single base substitution G T intron_variant BRCA-EU 17 80654278 80654278 single base substitution C G 5_prime_UTR_variant BRCA-EU 17 80654278 80654278 single base substitution C G exon_variant BRCA-EU 17 80654278 80654278 single base substitution C G intron_variant BRCA-EU 17 80655456 80655456 single base substitution G C intron_variant BRCA-EU 17 80655456 80655456 single base substitution G C upstream_gene_variant BRCA-EU 17 80656740 80656740 single base substitution T C upstream_gene_variant BRCA-EU 17 80656887 80656887 single base substitution C A upstream_gene_variant BRCA-EU 17 80657292 80657295 deletion of <=200bp TGTC - upstream_gene_variant BRCA-EU 17 80657854 80657854 single base substitution G A upstream_gene_variant BRCA-EU 17 80658312 80658312 single base substitution G A upstream_gene_variant BRCA-EU 17 80659375 80659375 single base substitution G A upstream_gene_variant BRCA-EU 17 80659443 80659443 single base substitution T C upstream_gene_variant BRCA-EU 17 80660268 80660268 single base substitution C A upstream_gene_variant BRCA-EU 17 80660273 80660273 single base substitution G A upstream_gene_variant BRCA-EU 17 80660644 80660644 single base substitution G A upstream_gene_variant BRCA-EU 17 80660812 80660812 single base substitution G A upstream_gene_variant BRCA-EU 17 80660927 80660927 single base substitution A C upstream_gene_variant BRCA-EU 17 80661024 80661024 single base substitution G A upstream_gene_variant BRCA-FR 17 80610574 80610574 single base substitution G C downstream_gene_variant BRCA-FR 17 80613308 80613308 single base substitution C G 3_prime_UTR_variant BRCA-FR 17 80613308 80613308 single base substitution C G downstream_gene_variant BRCA-FR 17 80613308 80613308 single base substitution C G exon_variant BRCA-FR 17 80617571 80617571 single base substitution G A downstream_gene_variant BRCA-FR 17 80617571 80617571 single base substitution G A exon_variant BRCA-FR 17 80617571 80617571 single base substitution G A intron_variant BRCA-FR 17 80617571 80617571 single base substitution G A upstream_gene_variant BRCA-FR 17 80627512 80627512 single base substitution G C intron_variant BRCA-FR 17 80627512 80627512 single base substitution G C upstream_gene_variant BRCA-FR 17 80627727 80627727 single base substitution A G intron_variant BRCA-FR 17 80627727 80627727 single base substitution A G upstream_gene_variant BRCA-FR 17 80642584 80642584 single base substitution G A intron_variant BRCA-FR 17 80645988 80645988 single base substitution C G intron_variant BRCA-FR 17 80652122 80652122 single base substitution C G intron_variant BRCA-FR 17 80652396 80652396 single base substitution A C intron_variant BRCA-FR 17 80655456 80655456 single base substitution G C intron_variant BRCA-FR 17 80655456 80655456 single base substitution G C upstream_gene_variant BRCA-FR 17 80660273 80660273 single base substitution G A upstream_gene_variant BRCA-FR 17 80660503 80660503 single base substitution C T upstream_gene_variant BRCA-KR 17 80615785 80615785 single base substitution T G downstream_gene_variant BRCA-KR 17 80615785 80615785 single base substitution T G exon_variant BRCA-KR 17 80615785 80615785 single base substitution T G missense_variant Q264P 791A>C BRCA-KR 17 80615785 80615785 single base substitution T G missense_variant Q85P 254A>C BRCA-KR 17 80615785 80615785 single base substitution T G upstream_gene_variant BRCA-UK 17 80608427 80608427 single base substitution G C downstream_gene_variant BRCA-UK 17 80624939 80624939 single base substitution C T intron_variant BRCA-UK 17 80624939 80624939 single base substitution C T upstream_gene_variant BRCA-UK 17 80648978 80648978 single base substitution C A intron_variant BRCA-UK 17 80660644 80660644 single base substitution G A upstream_gene_variant BRCA-US 17 80615975 80615975 single base substitution C T 3_prime_UTR_variant BRCA-US 17 80615975 80615975 single base substitution C T downstream_gene_variant BRCA-US 17 80615975 80615975 single base substitution C T exon_variant BRCA-US 17 80615975 80615975 single base substitution C T missense_variant V201M 601G>A BRCA-US 17 80615975 80615975 single base substitution C T missense_variant V22M 64G>A BRCA-US 17 80615975 80615975 single base substitution C T upstream_gene_variant BTCA-JP 17 80615639 80615639 single base substitution C T 3_prime_UTR_variant BTCA-JP 17 80615639 80615639 single base substitution C T downstream_gene_variant BTCA-JP 17 80615639 80615639 single base substitution C T exon_variant BTCA-JP 17 80615639 80615639 single base substitution C T upstream_gene_variant BTCA-JP 17 80616569 80616569 single base substitution C A 5_prime_UTR_variant BTCA-JP 17 80616569 80616569 single base substitution C A downstream_gene_variant BTCA-JP 17 80616569 80616569 single base substitution C A exon_variant BTCA-JP 17 80616569 80616569 single base substitution C A intron_variant BTCA-JP 17 80616569 80616569 single base substitution C A missense_variant K121N 363G>T BTCA-JP 17 80616569 80616569 single base substitution C A upstream_gene_variant BTCA-JP 17 80616595 80616595 single base substitution G A downstream_gene_variant BTCA-JP 17 80616595 80616595 single base substitution G A exon_variant BTCA-JP 17 80616595 80616595 single base substitution G A intron_variant BTCA-JP 17 80616595 80616595 single base substitution G A splice_region_variant BTCA-JP 17 80616595 80616595 single base substitution G A upstream_gene_variant CESC-US 17 80632388 80632388 insertion of <=200bp - C intron_variant CESC-US 17 80632513 80632513 insertion of <=200bp - A intron_variant CLLE-ES 17 80617502 80617502 single base substitution C T 5_prime_UTR_variant CLLE-ES 17 80617502 80617502 single base substitution C T downstream_gene_variant CLLE-ES 17 80617502 80617502 single base substitution C T exon_variant CLLE-ES 17 80617502 80617502 single base substitution C T missense_variant R26H 77G>A CLLE-ES 17 80617502 80617502 single base substitution C T missense_variant R99H 296G>A CLLE-ES 17 80617502 80617502 single base substitution C T upstream_gene_variant CLLE-ES 17 80621467 80621467 single base substitution G A intron_variant CLLE-ES 17 80621467 80621467 single base substitution G A upstream_gene_variant CLLE-ES 17 80627187 80627187 single base substitution G A intron_variant CLLE-ES 17 80627187 80627187 single base substitution G A upstream_gene_variant CLLE-ES 17 80630087 80630087 single base substitution C A intron_variant CLLE-ES 17 80630145 80630145 insertion of <=200bp - A intron_variant CLLE-ES 17 80644755 80644755 single base substitution G C intron_variant COAD-US 17 80615785 80615785 single base substitution T G downstream_gene_variant COAD-US 17 80615785 80615785 single base substitution T G exon_variant COAD-US 17 80615785 80615785 single base substitution T G missense_variant Q264P 791A>C COAD-US 17 80615785 80615785 single base substitution T G missense_variant Q85P 254A>C COAD-US 17 80615785 80615785 single base substitution T G upstream_gene_variant COAD-US 17 80615786 80615786 deletion of <=200bp G - downstream_gene_variant COAD-US 17 80615786 80615786 deletion of <=200bp G - exon_variant COAD-US 17 80615786 80615786 deletion of <=200bp G - frameshift_variant Q264 COAD-US 17 80615786 80615786 deletion of <=200bp G - frameshift_variant Q85 COAD-US 17 80615786 80615786 deletion of <=200bp G - upstream_gene_variant COAD-US 17 80616540 80616540 single base substitution G T 5_prime_UTR_variant COAD-US 17 80616540 80616540 single base substitution G T downstream_gene_variant COAD-US 17 80616540 80616540 single base substitution G T exon_variant COAD-US 17 80616540 80616540 single base substitution G T intron_variant COAD-US 17 80616540 80616540 single base substitution G T missense_variant A131E 392C>A COAD-US 17 80616540 80616540 single base substitution G T upstream_gene_variant COCA-CN 17 80617659 80617659 single base substitution T G downstream_gene_variant COCA-CN 17 80617659 80617659 single base substitution T G intron_variant COCA-CN 17 80617659 80617659 single base substitution T G upstream_gene_variant COCA-CN 17 80618868 80618868 single base substitution C T 5_prime_UTR_variant COCA-CN 17 80618868 80618868 single base substitution C T downstream_gene_variant COCA-CN 17 80618868 80618868 single base substitution C T exon_variant COCA-CN 17 80618868 80618868 single base substitution C T missense_variant A14T 40G>A COCA-CN 17 80618868 80618868 single base substitution C T missense_variant A87T 259G>A COCA-CN 17 80618868 80618868 single base substitution C T upstream_gene_variant COCA-CN 17 80626037 80626037 single base substitution G A intron_variant COCA-CN 17 80626037 80626037 single base substitution G A upstream_gene_variant COCA-CN 17 80630006 80630006 single base substitution C T intron_variant EOPC-DE 17 80644769 80644769 single base substitution G C intron_variant EOPC-DE 17 80648319 80648319 single base substitution A G intron_variant ESAD-UK 17 80613112 80613112 single base substitution G A 3_prime_UTR_variant ESAD-UK 17 80613112 80613112 single base substitution G A downstream_gene_variant ESAD-UK 17 80613112 80613112 single base substitution G A exon_variant ESAD-UK 17 80617574 80617574 single base substitution G A downstream_gene_variant ESAD-UK 17 80617574 80617574 single base substitution G A exon_variant ESAD-UK 17 80617574 80617574 single base substitution G A intron_variant ESAD-UK 17 80617574 80617574 single base substitution G A upstream_gene_variant ESAD-UK 17 80621719 80621719 single base substitution G A intron_variant ESAD-UK 17 80621719 80621719 single base substitution G A upstream_gene_variant ESAD-UK 17 80623809 80623809 insertion of <=200bp - T intron_variant ESAD-UK 17 80623809 80623809 insertion of <=200bp - T upstream_gene_variant ESAD-UK 17 80624273 80624273 single base substitution G A intron_variant ESAD-UK 17 80624273 80624273 single base substitution G A upstream_gene_variant ESAD-UK 17 80624857 80624857 single base substitution G A intron_variant ESAD-UK 17 80624857 80624857 single base substitution G A upstream_gene_variant ESAD-UK 17 80626501 80626502 deletion of <=200bp TG - intron_variant ESAD-UK 17 80626501 80626502 deletion of <=200bp TG - upstream_gene_variant ESAD-UK 17 80627011 80627011 single base substitution C T intron_variant ESAD-UK 17 80627011 80627011 single base substitution C T upstream_gene_variant ESAD-UK 17 80627198 80627198 single base substitution G A intron_variant ESAD-UK 17 80627198 80627198 single base substitution G A upstream_gene_variant ESAD-UK 17 80630166 80630169 deletion of <=200bp AACT - intron_variant ESAD-UK 17 80631284 80631284 single base substitution T A intron_variant ESAD-UK 17 80632799 80632799 single base substitution A T intron_variant ESAD-UK 17 80634902 80634902 single base substitution G A intron_variant ESAD-UK 17 80641492 80641492 single base substitution T C intron_variant ESAD-UK 17 80648614 80648615 deletion of <=200bp AG - intron_variant ESAD-UK 17 80649703 80649703 single base substitution C T intron_variant ESAD-UK 17 80650774 80650774 single base substitution G A intron_variant ESAD-UK 17 80651578 80651578 single base substitution G A intron_variant ESAD-UK 17 80652405 80652405 single base substitution C A intron_variant ESAD-UK 17 80653326 80653326 single base substitution C T intron_variant ESAD-UK 17 80653587 80653587 single base substitution G A intron_variant ESAD-UK 17 80654165 80654165 single base substitution G A intron_variant ESAD-UK 17 80656794 80656794 single base substitution A G upstream_gene_variant ESAD-UK 17 80657685 80657688 deletion of <=200bp TCGC - upstream_gene_variant ESAD-UK 17 80658527 80658527 single base substitution A G upstream_gene_variant ESAD-UK 17 80659027 80659027 single base substitution A G upstream_gene_variant ESCA-CN 17 80656288 80656288 single base substitution G C intron_variant ESCA-CN 17 80656288 80656288 single base substitution G C upstream_gene_variant KIRC-US 17 80622419 80622419 single base substitution C A 5_prime_UTR_variant KIRC-US 17 80622419 80622419 single base substitution C A exon_variant KIRC-US 17 80622419 80622419 single base substitution C A missense_variant K52N 156G>T KIRC-US 17 80622419 80622419 single base substitution C A upstream_gene_variant KIRP-US 17 80617514 80617514 single base substitution T A 5_prime_UTR_variant KIRP-US 17 80617514 80617514 single base substitution T A downstream_gene_variant KIRP-US 17 80617514 80617514 single base substitution T A exon_variant KIRP-US 17 80617514 80617514 single base substitution T A missense_variant D22V 65A>T KIRP-US 17 80617514 80617514 single base substitution T A missense_variant D95V 284A>T KIRP-US 17 80617514 80617514 single base substitution T A upstream_gene_variant LAML-KR 17 80622483 80622483 single base substitution G T exon_variant LAML-KR 17 80622483 80622483 single base substitution G T intron_variant LAML-KR 17 80622483 80622483 single base substitution G T upstream_gene_variant LAML-KR 17 80629023 80629023 single base substitution C T intron_variant LAML-KR 17 80629072 80629072 single base substitution C T intron_variant LAML-KR 17 80629133 80629133 single base substitution C T intron_variant LAML-KR 17 80629387 80629387 single base substitution C T intron_variant LAML-KR 17 80632176 80632176 single base substitution T C intron_variant LAML-KR 17 80651968 80651968 single base substitution A T intron_variant LICA-FR 17 80608518 80608519 deletion of <=200bp AA - downstream_gene_variant LICA-FR 17 80609051 80609051 single base substitution T G downstream_gene_variant LICA-FR 17 80618445 80618445 single base substitution C T downstream_gene_variant LICA-FR 17 80618445 80618445 single base substitution C T intron_variant LICA-FR 17 80618445 80618445 single base substitution C T upstream_gene_variant LICA-FR 17 80628401 80628401 single base substitution G A intron_variant LICA-FR 17 80629386 80629386 single base substitution C T intron_variant LICA-FR 17 80629387 80629387 single base substitution C T intron_variant LICA-FR 17 80629497 80629497 single base substitution G C intron_variant LICA-FR 17 80629499 80629499 single base substitution T C intron_variant LICA-FR 17 80629681 80629681 single base substitution C T intron_variant LICA-FR 17 80643981 80643982 deletion of <=200bp TT - intron_variant LICA-FR 17 80656451 80656451 single base substitution C A 5_prime_UTR_variant LICA-FR 17 80656451 80656451 single base substitution C A exon_variant LICA-FR 17 80656451 80656451 single base substitution C A missense_variant V8F 22G>T LICA-FR 17 80656451 80656451 single base substitution C A upstream_gene_variant LIHC-US 17 80615904 80615904 deletion of <=200bp G - 3_prime_UTR_variant LIHC-US 17 80615904 80615904 deletion of <=200bp G - downstream_gene_variant LIHC-US 17 80615904 80615904 deletion of <=200bp G - exon_variant LIHC-US 17 80615904 80615904 deletion of <=200bp G - frameshift_variant S224 LIHC-US 17 80615904 80615904 deletion of <=200bp G - frameshift_variant S45 LIHC-US 17 80615904 80615904 deletion of <=200bp G - upstream_gene_variant LINC-JP 17 80611990 80611990 single base substitution A G downstream_gene_variant LINC-JP 17 80615919 80615919 single base substitution T G 3_prime_UTR_variant LINC-JP 17 80615919 80615919 single base substitution T G downstream_gene_variant LINC-JP 17 80615919 80615919 single base substitution T G exon_variant LINC-JP 17 80615919 80615919 single base substitution T G missense_variant R219S 657A>C LINC-JP 17 80615919 80615919 single base substitution T G missense_variant R40S 120A>C LINC-JP 17 80615919 80615919 single base substitution T G upstream_gene_variant LINC-JP 17 80616569 80616569 single base substitution C A 5_prime_UTR_variant LINC-JP 17 80616569 80616569 single base substitution C A downstream_gene_variant LINC-JP 17 80616569 80616569 single base substitution C A exon_variant LINC-JP 17 80616569 80616569 single base substitution C A intron_variant LINC-JP 17 80616569 80616569 single base substitution C A missense_variant K121N 363G>T LINC-JP 17 80616569 80616569 single base substitution C A upstream_gene_variant LINC-JP 17 80623103 80623103 deletion of <=200bp A - intron_variant LINC-JP 17 80623103 80623103 deletion of <=200bp A - upstream_gene_variant LINC-JP 17 80652495 80652495 single base substitution T C intron_variant LINC-JP 17 80652697 80652697 single base substitution T C intron_variant LINC-JP 17 80656608 80656608 single base substitution A T upstream_gene_variant LINC-JP 17 80660429 80660429 insertion of <=200bp - T upstream_gene_variant LIRI-JP 17 80609680 80609680 single base substitution G A downstream_gene_variant LIRI-JP 17 80610590 80610590 single base substitution G C downstream_gene_variant LIRI-JP 17 80612845 80612846 deletion of <=200bp TC - downstream_gene_variant LIRI-JP 17 80616100 80616100 single base substitution C G downstream_gene_variant LIRI-JP 17 80616100 80616100 single base substitution C G exon_variant LIRI-JP 17 80616100 80616100 single base substitution C G intron_variant LIRI-JP 17 80616100 80616100 single base substitution C G upstream_gene_variant LIRI-JP 17 80616734 80616734 single base substitution G A downstream_gene_variant LIRI-JP 17 80616734 80616734 single base substitution G A exon_variant LIRI-JP 17 80616734 80616734 single base substitution G A intron_variant LIRI-JP 17 80616734 80616734 single base substitution G A upstream_gene_variant LIRI-JP 17 80617852 80617852 single base substitution C T downstream_gene_variant LIRI-JP 17 80617852 80617852 single base substitution C T intron_variant LIRI-JP 17 80617852 80617852 single base substitution C T upstream_gene_variant LIRI-JP 17 80619710 80619710 single base substitution C G intron_variant LIRI-JP 17 80619710 80619710 single base substitution C G upstream_gene_variant LIRI-JP 17 80623551 80623551 single base substitution T C intron_variant LIRI-JP 17 80623551 80623551 single base substitution T C upstream_gene_variant LIRI-JP 17 80623599 80623599 single base substitution C T intron_variant LIRI-JP 17 80623599 80623599 single base substitution C T upstream_gene_variant LIRI-JP 17 80625072 80625072 single base substitution G T intron_variant LIRI-JP 17 80625072 80625072 single base substitution G T upstream_gene_variant LIRI-JP 17 80625313 80625323 deletion of <=200bp CCTGTGCAGCG - intron_variant LIRI-JP 17 80625313 80625323 deletion of <=200bp CCTGTGCAGCG - upstream_gene_variant LIRI-JP 17 80625484 80625484 single base substitution G A intron_variant LIRI-JP 17 80625484 80625484 single base substitution G A upstream_gene_variant LIRI-JP 17 80628088 80628088 single base substitution G A intron_variant LIRI-JP 17 80630853 80630853 single base substitution G T intron_variant LIRI-JP 17 80631798 80631798 single base substitution C T intron_variant LIRI-JP 17 80631954 80631954 single base substitution C T intron_variant LIRI-JP 17 80640602 80640602 single base substitution T C intron_variant LIRI-JP 17 80640919 80640919 single base substitution T C intron_variant LIRI-JP 17 80641811 80641811 single base substitution T C intron_variant LIRI-JP 17 80642610 80642610 single base substitution C A intron_variant LIRI-JP 17 80643356 80643356 single base substitution T C intron_variant LIRI-JP 17 80643358 80643358 single base substitution G T intron_variant LIRI-JP 17 80651946 80651946 single base substitution G A intron_variant LIRI-JP 17 80654747 80654747 single base substitution G T intron_variant LIRI-JP 17 80654747 80654747 single base substitution G T upstream_gene_variant LIRI-JP 17 80658763 80658763 single base substitution G A upstream_gene_variant LUSC-KR 17 80623780 80623780 single base substitution A C intron_variant LUSC-KR 17 80623780 80623780 single base substitution A C upstream_gene_variant LUSC-KR 17 80626917 80626917 single base substitution T C intron_variant LUSC-KR 17 80626917 80626917 single base substitution T C upstream_gene_variant LUSC-KR 17 80630412 80630412 single base substitution T C intron_variant LUSC-KR 17 80631502 80631502 single base substitution T G intron_variant LUSC-KR 17 80631560 80631560 single base substitution T C intron_variant LUSC-KR 17 80637678 80637678 single base substitution C A intron_variant LUSC-KR 17 80648399 80648399 single base substitution A G intron_variant LUSC-KR 17 80648518 80648518 single base substitution A G intron_variant LUSC-KR 17 80651082 80651082 single base substitution C A intron_variant LUSC-KR 17 80654963 80654963 single base substitution G A intron_variant LUSC-KR 17 80654963 80654963 single base substitution G A upstream_gene_variant LUSC-KR 17 80660972 80660972 single base substitution G A upstream_gene_variant LUSC-KR 17 80661480 80661480 single base substitution G C upstream_gene_variant LUSC-US 17 80618872 80618872 single base substitution C A 5_prime_UTR_variant LUSC-US 17 80618872 80618872 single base substitution C A downstream_gene_variant LUSC-US 17 80618872 80618872 single base substitution C A exon_variant LUSC-US 17 80618872 80618872 single base substitution C A synonymous_variant R12R 36G>T LUSC-US 17 80618872 80618872 single base substitution C A synonymous_variant R85R 255G>T LUSC-US 17 80618872 80618872 single base substitution C A upstream_gene_variant MALY-DE 17 80609026 80609027 deletion of <=200bp AC - downstream_gene_variant MALY-DE 17 80611642 80611642 single base substitution A T downstream_gene_variant MALY-DE 17 80612177 80612177 single base substitution C T downstream_gene_variant MALY-DE 17 80618564 80618565 deletion of <=200bp AC - downstream_gene_variant MALY-DE 17 80618564 80618565 deletion of <=200bp AC - intron_variant MALY-DE 17 80618564 80618565 deletion of <=200bp AC - upstream_gene_variant MALY-DE 17 80619283 80619283 single base substitution G A intron_variant MALY-DE 17 80619283 80619283 single base substitution G A upstream_gene_variant MALY-DE 17 80629981 80629981 deletion of <=200bp T - intron_variant MALY-DE 17 80634314 80634314 insertion of <=200bp - C intron_variant MALY-DE 17 80651183 80651183 single base substitution G A intron_variant MALY-DE 17 80651970 80651970 single base substitution A T intron_variant MALY-DE 17 80660559 80660559 single base substitution G C upstream_gene_variant MELA-AU 17 80607861 80607861 single base substitution C T downstream_gene_variant MELA-AU 17 80608182 80608182 single base substitution G A downstream_gene_variant MELA-AU 17 80609299 80609299 single base substitution G A downstream_gene_variant MELA-AU 17 80609760 80609760 single base substitution A C downstream_gene_variant MELA-AU 17 80610256 80610257 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 17 80610276 80610276 single base substitution G A downstream_gene_variant MELA-AU 17 80612651 80612651 single base substitution T C downstream_gene_variant MELA-AU 17 80613113 80613113 single base substitution G A 3_prime_UTR_variant MELA-AU 17 80613113 80613113 single base substitution G A downstream_gene_variant MELA-AU 17 80613113 80613113 single base substitution G A exon_variant MELA-AU 17 80613333 80613333 single base substitution G A 3_prime_UTR_variant MELA-AU 17 80613333 80613333 single base substitution G A downstream_gene_variant MELA-AU 17 80613333 80613333 single base substitution G A exon_variant MELA-AU 17 80614178 80614178 single base substitution G A 3_prime_UTR_variant MELA-AU 17 80614178 80614178 single base substitution G A downstream_gene_variant MELA-AU 17 80614178 80614178 single base substitution G A intron_variant MELA-AU 17 80614322 80614322 single base substitution G A 3_prime_UTR_variant MELA-AU 17 80614322 80614322 single base substitution G A downstream_gene_variant MELA-AU 17 80614322 80614322 single base substitution G A intron_variant MELA-AU 17 80614491 80614491 single base substitution G A 3_prime_UTR_variant MELA-AU 17 80614491 80614491 single base substitution G A downstream_gene_variant MELA-AU 17 80614491 80614491 single base substitution G A exon_variant MELA-AU 17 80615440 80615440 single base substitution G A 3_prime_UTR_variant MELA-AU 17 80615440 80615440 single base substitution G A downstream_gene_variant MELA-AU 17 80615440 80615440 single base substitution G A exon_variant MELA-AU 17 80615440 80615440 single base substitution G A upstream_gene_variant MELA-AU 17 80615669 80615669 single base substitution C T 3_prime_UTR_variant MELA-AU 17 80615669 80615669 single base substitution C T downstream_gene_variant MELA-AU 17 80615669 80615669 single base substitution C T exon_variant MELA-AU 17 80615669 80615669 single base substitution C T upstream_gene_variant MELA-AU 17 80616018 80616018 single base substitution G A downstream_gene_variant MELA-AU 17 80616018 80616018 single base substitution G A exon_variant MELA-AU 17 80616018 80616018 single base substitution G A intron_variant MELA-AU 17 80616018 80616018 single base substitution G A upstream_gene_variant MELA-AU 17 80616413 80616413 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 80616413 80616413 single base substitution G A downstream_gene_variant MELA-AU 17 80616413 80616413 single base substitution G A exon_variant MELA-AU 17 80616413 80616413 single base substitution G A intron_variant MELA-AU 17 80616413 80616413 single base substitution G A missense_variant S123L 368C>T MELA-AU 17 80616413 80616413 single base substitution G A synonymous_variant I173I 519C>T MELA-AU 17 80616413 80616413 single base substitution G A upstream_gene_variant MELA-AU 17 80616565 80616565 single base substitution G C 5_prime_UTR_variant MELA-AU 17 80616565 80616565 single base substitution G C downstream_gene_variant MELA-AU 17 80616565 80616565 single base substitution G C exon_variant MELA-AU 17 80616565 80616565 single base substitution G C intron_variant MELA-AU 17 80616565 80616565 single base substitution G C missense_variant L123V 367C>G MELA-AU 17 80616565 80616565 single base substitution G C upstream_gene_variant MELA-AU 17 80616832 80616832 single base substitution G A downstream_gene_variant MELA-AU 17 80616832 80616832 single base substitution G A exon_variant MELA-AU 17 80616832 80616832 single base substitution G A intron_variant MELA-AU 17 80616832 80616832 single base substitution G A upstream_gene_variant MELA-AU 17 80617462 80617462 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 80617462 80617462 single base substitution G A downstream_gene_variant MELA-AU 17 80617462 80617462 single base substitution G A exon_variant MELA-AU 17 80617462 80617462 single base substitution G A synonymous_variant I112I 336C>T MELA-AU 17 80617462 80617462 single base substitution G A synonymous_variant I39I 117C>T MELA-AU 17 80617462 80617462 single base substitution G A upstream_gene_variant MELA-AU 17 80617964 80617964 single base substitution G A downstream_gene_variant MELA-AU 17 80617964 80617964 single base substitution G A intron_variant MELA-AU 17 80617964 80617964 single base substitution G A upstream_gene_variant MELA-AU 17 80618850 80618850 single base substitution G A downstream_gene_variant MELA-AU 17 80618850 80618850 single base substitution G A intron_variant MELA-AU 17 80618850 80618850 single base substitution G A upstream_gene_variant MELA-AU 17 80618901 80618901 single base substitution A G 5_prime_UTR_variant MELA-AU 17 80618901 80618901 single base substitution A G downstream_gene_variant MELA-AU 17 80618901 80618901 single base substitution A G exon_variant MELA-AU 17 80618901 80618901 single base substitution A G missense_variant F3L 7T>C MELA-AU 17 80618901 80618901 single base substitution A G missense_variant F76L 226T>C MELA-AU 17 80618901 80618901 single base substitution A G upstream_gene_variant MELA-AU 17 80618986 80618986 single base substitution G A exon_variant MELA-AU 17 80618986 80618986 single base substitution G A intron_variant MELA-AU 17 80618986 80618986 single base substitution G A upstream_gene_variant MELA-AU 17 80619084 80619084 single base substitution G A exon_variant MELA-AU 17 80619084 80619084 single base substitution G A intron_variant MELA-AU 17 80619084 80619084 single base substitution G A upstream_gene_variant MELA-AU 17 80619512 80619512 single base substitution C T intron_variant MELA-AU 17 80619512 80619512 single base substitution C T upstream_gene_variant MELA-AU 17 80619527 80619527 single base substitution C T intron_variant MELA-AU 17 80619527 80619527 single base substitution C T upstream_gene_variant MELA-AU 17 80619822 80619822 single base substitution G A intron_variant MELA-AU 17 80619822 80619822 single base substitution G A upstream_gene_variant MELA-AU 17 80620848 80620848 single base substitution G A intron_variant MELA-AU 17 80620848 80620848 single base substitution G A upstream_gene_variant MELA-AU 17 80621370 80621370 single base substitution G A intron_variant MELA-AU 17 80621370 80621370 single base substitution G A upstream_gene_variant MELA-AU 17 80621409 80621409 single base substitution G A intron_variant MELA-AU 17 80621409 80621409 single base substitution G A upstream_gene_variant MELA-AU 17 80621825 80621825 single base substitution G A intron_variant MELA-AU 17 80621825 80621825 single base substitution G A upstream_gene_variant MELA-AU 17 80621844 80621844 single base substitution G A intron_variant MELA-AU 17 80621844 80621844 single base substitution G A upstream_gene_variant MELA-AU 17 80621909 80621909 single base substitution G A intron_variant MELA-AU 17 80621909 80621909 single base substitution G A upstream_gene_variant MELA-AU 17 80622303 80622303 single base substitution G A intron_variant MELA-AU 17 80622303 80622303 single base substitution G A upstream_gene_variant MELA-AU 17 80622352 80622352 single base substitution C T intron_variant MELA-AU 17 80622352 80622352 single base substitution C T upstream_gene_variant MELA-AU 17 80622390 80622390 single base substitution C T 5_prime_UTR_variant MELA-AU 17 80622390 80622390 single base substitution C T exon_variant MELA-AU 17 80622390 80622390 single base substitution C T missense_variant R62Q 185G>A MELA-AU 17 80622390 80622390 single base substitution C T upstream_gene_variant MELA-AU 17 80622618 80622618 single base substitution G A exon_variant MELA-AU 17 80622618 80622618 single base substitution G A intron_variant MELA-AU 17 80622618 80622618 single base substitution G A upstream_gene_variant MELA-AU 17 80622734 80622735 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 17 80622734 80622735 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 80622734 80622735 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 80623116 80623116 single base substitution G A intron_variant MELA-AU 17 80623116 80623116 single base substitution G A upstream_gene_variant MELA-AU 17 80623770 80623770 single base substitution A C intron_variant MELA-AU 17 80623770 80623770 single base substitution A C upstream_gene_variant MELA-AU 17 80623909 80623920 deletion of <=200bp CACCTGCCACCA - intron_variant MELA-AU 17 80623909 80623920 deletion of <=200bp CACCTGCCACCA - upstream_gene_variant MELA-AU 17 80624343 80624343 single base substitution A G intron_variant MELA-AU 17 80624343 80624343 single base substitution A G upstream_gene_variant MELA-AU 17 80624832 80624832 single base substitution G A intron_variant MELA-AU 17 80624832 80624832 single base substitution G A upstream_gene_variant MELA-AU 17 80625455 80625455 single base substitution G A intron_variant MELA-AU 17 80625455 80625455 single base substitution G A upstream_gene_variant MELA-AU 17 80625629 80625629 single base substitution C T intron_variant MELA-AU 17 80625629 80625629 single base substitution C T upstream_gene_variant MELA-AU 17 80625727 80625727 single base substitution G A intron_variant MELA-AU 17 80625727 80625727 single base substitution G A upstream_gene_variant MELA-AU 17 80625898 80625898 single base substitution G A intron_variant MELA-AU 17 80625898 80625898 single base substitution G A upstream_gene_variant MELA-AU 17 80626426 80626426 single base substitution G A intron_variant MELA-AU 17 80626426 80626426 single base substitution G A upstream_gene_variant MELA-AU 17 80626499 80626499 single base substitution C T intron_variant MELA-AU 17 80626499 80626499 single base substitution C T upstream_gene_variant MELA-AU 17 80627039 80627039 single base substitution C T intron_variant MELA-AU 17 80627039 80627039 single base substitution C T upstream_gene_variant MELA-AU 17 80627177 80627178 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 80627177 80627178 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 80627198 80627198 single base substitution G A intron_variant MELA-AU 17 80627198 80627198 single base substitution G A upstream_gene_variant MELA-AU 17 80627566 80627566 single base substitution G A intron_variant MELA-AU 17 80627566 80627566 single base substitution G A upstream_gene_variant MELA-AU 17 80627672 80627672 single base substitution C T intron_variant MELA-AU 17 80627672 80627672 single base substitution C T upstream_gene_variant MELA-AU 17 80628111 80628111 single base substitution G A intron_variant MELA-AU 17 80628585 80628585 single base substitution A G intron_variant MELA-AU 17 80628930 80628930 single base substitution C T intron_variant MELA-AU 17 80629474 80629474 single base substitution T C intron_variant MELA-AU 17 80629974 80629974 single base substitution C T intron_variant MELA-AU 17 80631157 80631157 single base substitution A T intron_variant MELA-AU 17 80631218 80631218 single base substitution G A intron_variant MELA-AU 17 80631231 80631231 single base substitution T G intron_variant MELA-AU 17 80631784 80631784 single base substitution G A intron_variant MELA-AU 17 80632297 80632298 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 80632569 80632569 single base substitution G A intron_variant MELA-AU 17 80632759 80632759 single base substitution G A intron_variant MELA-AU 17 80632782 80632782 single base substitution G T intron_variant MELA-AU 17 80632985 80632985 single base substitution G A intron_variant MELA-AU 17 80633075 80633075 single base substitution C T intron_variant MELA-AU 17 80633469 80633469 single base substitution G A intron_variant MELA-AU 17 80634433 80634433 single base substitution C T intron_variant MELA-AU 17 80634607 80634607 single base substitution G A intron_variant MELA-AU 17 80634747 80634747 single base substitution C T intron_variant MELA-AU 17 80635472 80635472 single base substitution G A intron_variant MELA-AU 17 80635503 80635503 single base substitution G A intron_variant MELA-AU 17 80635958 80635958 single base substitution G A intron_variant MELA-AU 17 80636634 80636634 single base substitution G A intron_variant MELA-AU 17 80636892 80636892 single base substitution G A intron_variant MELA-AU 17 80637032 80637032 single base substitution G A intron_variant MELA-AU 17 80637039 80637039 single base substitution G A intron_variant MELA-AU 17 80637434 80637434 single base substitution G A intron_variant MELA-AU 17 80637919 80637919 single base substitution G A intron_variant MELA-AU 17 80638175 80638175 single base substitution G A intron_variant MELA-AU 17 80638247 80638247 single base substitution G T intron_variant MELA-AU 17 80638504 80638504 single base substitution G A intron_variant MELA-AU 17 80638800 80638801 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 80639312 80639312 single base substitution G A intron_variant MELA-AU 17 80639858 80639858 single base substitution T A intron_variant MELA-AU 17 80639876 80639876 single base substitution C T intron_variant MELA-AU 17 80639967 80639967 single base substitution G A intron_variant MELA-AU 17 80640469 80640469 single base substitution G A intron_variant MELA-AU 17 80641061 80641061 single base substitution G A intron_variant MELA-AU 17 80641090 80641090 single base substitution T C intron_variant MELA-AU 17 80641265 80641265 single base substitution G A intron_variant MELA-AU 17 80641657 80641657 single base substitution G A intron_variant MELA-AU 17 80642466 80642466 single base substitution A T intron_variant MELA-AU 17 80642918 80642918 single base substitution G A intron_variant MELA-AU 17 80642997 80642997 single base substitution G A intron_variant MELA-AU 17 80643469 80643469 single base substitution G A intron_variant MELA-AU 17 80644787 80644787 single base substitution G C intron_variant MELA-AU 17 80644848 80644849 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 80644899 80644899 single base substitution T A intron_variant MELA-AU 17 80647425 80647425 single base substitution G A intron_variant MELA-AU 17 80648133 80648133 single base substitution G A intron_variant MELA-AU 17 80648161 80648161 single base substitution G A intron_variant MELA-AU 17 80648420 80648420 single base substitution G A intron_variant MELA-AU 17 80648421 80648421 single base substitution G A intron_variant MELA-AU 17 80648451 80648451 single base substitution G A intron_variant MELA-AU 17 80648683 80648683 single base substitution C T intron_variant MELA-AU 17 80649689 80649690 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 80649857 80649857 single base substitution C T intron_variant MELA-AU 17 80650276 80650276 single base substitution G A intron_variant MELA-AU 17 80650509 80650509 single base substitution C A intron_variant MELA-AU 17 80650658 80650658 single base substitution G A intron_variant MELA-AU 17 80650847 80650847 single base substitution G A intron_variant MELA-AU 17 80651121 80651121 single base substitution G A intron_variant MELA-AU 17 80651163 80651163 single base substitution G C intron_variant MELA-AU 17 80651317 80651317 single base substitution G A intron_variant MELA-AU 17 80651383 80651383 single base substitution G A intron_variant MELA-AU 17 80651598 80651599 multiple base substitution (>=2bp and <=200bp) CA AC intron_variant MELA-AU 17 80651605 80651605 single base substitution C A intron_variant MELA-AU 17 80651719 80651719 single base substitution G A intron_variant MELA-AU 17 80651980 80651980 single base substitution G A intron_variant MELA-AU 17 80652334 80652334 single base substitution G A intron_variant MELA-AU 17 80652438 80652438 single base substitution C T intron_variant MELA-AU 17 80652572 80652572 single base substitution G A intron_variant MELA-AU 17 80652814 80652814 single base substitution G A intron_variant MELA-AU 17 80652869 80652870 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 80652982 80652982 single base substitution C G intron_variant MELA-AU 17 80652989 80652989 single base substitution G A intron_variant MELA-AU 17 80652996 80652996 single base substitution A G intron_variant MELA-AU 17 80653218 80653218 single base substitution G A intron_variant MELA-AU 17 80653840 80653840 single base substitution G A intron_variant MELA-AU 17 80653906 80653906 single base substitution C T intron_variant MELA-AU 17 80654702 80654702 single base substitution G A 5_prime_UTR_variant MELA-AU 17 80654702 80654702 single base substitution G A exon_variant MELA-AU 17 80654702 80654702 single base substitution G A intron_variant MELA-AU 17 80655498 80655498 single base substitution C T intron_variant MELA-AU 17 80655498 80655498 single base substitution C T upstream_gene_variant MELA-AU 17 80656809 80656809 single base substitution G A upstream_gene_variant MELA-AU 17 80656848 80656848 single base substitution G A upstream_gene_variant MELA-AU 17 80656864 80656864 single base substitution G A upstream_gene_variant MELA-AU 17 80657278 80657278 single base substitution T C upstream_gene_variant MELA-AU 17 80657661 80657661 single base substitution G A upstream_gene_variant MELA-AU 17 80657796 80657796 single base substitution C T upstream_gene_variant MELA-AU 17 80657841 80657841 single base substitution G A upstream_gene_variant MELA-AU 17 80658062 80658062 single base substitution C T upstream_gene_variant MELA-AU 17 80658523 80658523 single base substitution C T upstream_gene_variant MELA-AU 17 80658526 80658526 single base substitution G A upstream_gene_variant MELA-AU 17 80658742 80658742 single base substitution G A upstream_gene_variant MELA-AU 17 80658908 80658908 single base substitution C T upstream_gene_variant MELA-AU 17 80659040 80659040 single base substitution C T upstream_gene_variant MELA-AU 17 80659143 80659143 single base substitution G A upstream_gene_variant MELA-AU 17 80659303 80659303 single base substitution C T upstream_gene_variant MELA-AU 17 80659526 80659526 single base substitution C T upstream_gene_variant MELA-AU 17 80659624 80659624 single base substitution G A upstream_gene_variant MELA-AU 17 80659753 80659753 single base substitution C T upstream_gene_variant MELA-AU 17 80660024 80660024 single base substitution C T upstream_gene_variant MELA-AU 17 80660037 80660037 single base substitution G A upstream_gene_variant MELA-AU 17 80660268 80660269 multiple base substitution (>=2bp and <=200bp) CC AT upstream_gene_variant MELA-AU 17 80660308 80660308 single base substitution G A upstream_gene_variant MELA-AU 17 80660389 80660389 single base substitution G A upstream_gene_variant MELA-AU 17 80660395 80660395 single base substitution G A upstream_gene_variant MELA-AU 17 80660486 80660486 single base substitution T G upstream_gene_variant MELA-AU 17 80660690 80660690 single base substitution G A upstream_gene_variant MELA-AU 17 80660789 80660789 single base substitution C T upstream_gene_variant MELA-AU 17 80660844 80660844 single base substitution C T upstream_gene_variant MELA-AU 17 80661104 80661104 single base substitution C T upstream_gene_variant MELA-AU 17 80661104 80661105 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 80661117 80661117 single base substitution G A upstream_gene_variant MELA-AU 17 80661132 80661132 single base substitution G A upstream_gene_variant MELA-AU 17 80661134 80661134 single base substitution T C upstream_gene_variant MELA-AU 17 80661136 80661136 single base substitution C T upstream_gene_variant MELA-AU 17 80661162 80661162 single base substitution C T upstream_gene_variant MELA-AU 17 80661288 80661288 single base substitution C T upstream_gene_variant MELA-AU 17 80661489 80661489 single base substitution G A upstream_gene_variant ORCA-IN 17 80613726 80613726 single base substitution G C 3_prime_UTR_variant ORCA-IN 17 80613726 80613726 single base substitution G C downstream_gene_variant ORCA-IN 17 80613726 80613726 single base substitution G C intron_variant ORCA-IN 17 80634182 80634182 single base substitution T C intron_variant OV-AU 17 80609983 80609983 single base substitution C T downstream_gene_variant OV-AU 17 80612523 80612523 single base substitution C T downstream_gene_variant OV-AU 17 80622909 80622909 single base substitution A G intron_variant OV-AU 17 80622909 80622909 single base substitution A G upstream_gene_variant OV-AU 17 80623944 80623944 single base substitution G A intron_variant OV-AU 17 80623944 80623944 single base substitution G A upstream_gene_variant OV-AU 17 80627721 80627721 single base substitution G A intron_variant OV-AU 17 80627721 80627721 single base substitution G A upstream_gene_variant OV-AU 17 80638543 80638543 single base substitution A T intron_variant OV-AU 17 80642983 80642983 single base substitution C A intron_variant OV-AU 17 80655816 80655816 single base substitution C T intron_variant OV-AU 17 80655816 80655816 single base substitution C T upstream_gene_variant OV-AU 17 80656433 80656433 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant OV-AU 17 80656433 80656433 single base substitution G C exon_variant OV-AU 17 80656433 80656433 single base substitution G C missense_variant L14V 40C>G OV-AU 17 80656433 80656433 single base substitution G C upstream_gene_variant PACA-AU 17 80610068 80610068 single base substitution C A downstream_gene_variant PACA-AU 17 80614419 80614419 single base substitution G A 3_prime_UTR_variant PACA-AU 17 80614419 80614419 single base substitution G A downstream_gene_variant PACA-AU 17 80614419 80614419 single base substitution G A exon_variant PACA-AU 17 80614570 80614570 single base substitution G A 3_prime_UTR_variant PACA-AU 17 80614570 80614570 single base substitution G A downstream_gene_variant PACA-AU 17 80614570 80614570 single base substitution G A exon_variant PACA-AU 17 80615095 80615095 single base substitution C A 3_prime_UTR_variant PACA-AU 17 80615095 80615095 single base substitution C A downstream_gene_variant PACA-AU 17 80615095 80615095 single base substitution C A exon_variant PACA-AU 17 80615095 80615095 single base substitution C A upstream_gene_variant PACA-AU 17 80620885 80620885 single base substitution C A intron_variant PACA-AU 17 80620885 80620885 single base substitution C A upstream_gene_variant PACA-AU 17 80622836 80622837 deletion of <=200bp CT - intron_variant PACA-AU 17 80622836 80622837 deletion of <=200bp CT - upstream_gene_variant PACA-AU 17 80630197 80630197 single base substitution A C intron_variant PACA-AU 17 80634565 80634565 single base substitution G A intron_variant PACA-AU 17 80641275 80641275 single base substitution G T intron_variant PACA-AU 17 80655766 80655766 single base substitution C T intron_variant PACA-AU 17 80655766 80655766 single base substitution C T upstream_gene_variant PACA-AU 17 80661216 80661216 single base substitution G A upstream_gene_variant PACA-CA 17 80608171 80608171 single base substitution A G downstream_gene_variant PACA-CA 17 80609902 80609902 single base substitution G A downstream_gene_variant PACA-CA 17 80616646 80616646 single base substitution G A downstream_gene_variant PACA-CA 17 80616646 80616646 single base substitution G A exon_variant PACA-CA 17 80616646 80616646 single base substitution G A intron_variant PACA-CA 17 80616646 80616646 single base substitution G A upstream_gene_variant PACA-CA 17 80617674 80617674 single base substitution A C downstream_gene_variant PACA-CA 17 80617674 80617674 single base substitution A C intron_variant PACA-CA 17 80617674 80617674 single base substitution A C upstream_gene_variant PACA-CA 17 80623782 80623782 single base substitution A C intron_variant PACA-CA 17 80623782 80623782 single base substitution A C upstream_gene_variant PACA-CA 17 80629160 80629160 single base substitution A G intron_variant PACA-CA 17 80629179 80629179 single base substitution C T intron_variant PACA-CA 17 80629460 80629460 insertion of <=200bp - AC intron_variant PACA-CA 17 80629566 80629567 deletion of <=200bp AA - intron_variant PACA-CA 17 80629623 80629623 insertion of <=200bp - AC intron_variant PACA-CA 17 80629919 80629919 single base substitution C G intron_variant PACA-CA 17 80630250 80630250 single base substitution C G intron_variant PACA-CA 17 80635521 80635521 single base substitution G A intron_variant PACA-CA 17 80637357 80637357 single base substitution C A intron_variant PACA-CA 17 80637623 80637623 insertion of <=200bp - CTA intron_variant PACA-CA 17 80637624 80637624 insertion of <=200bp - GGA intron_variant PACA-CA 17 80638348 80638348 single base substitution G T intron_variant PACA-CA 17 80648319 80648319 single base substitution A G intron_variant PACA-CA 17 80650355 80650355 single base substitution G C intron_variant PACA-CA 17 80652180 80652180 single base substitution C T intron_variant PACA-CA 17 80652185 80652185 single base substitution C T intron_variant PACA-CA 17 80652322 80652322 single base substitution C T intron_variant PACA-CA 17 80652348 80652348 single base substitution C T intron_variant PACA-CA 17 80652702 80652702 single base substitution C T intron_variant PACA-CA 17 80653099 80653099 single base substitution C T intron_variant PACA-CA 17 80653166 80653166 single base substitution C T intron_variant PACA-CA 17 80653404 80653404 single base substitution C T intron_variant PACA-CA 17 80653707 80653707 single base substitution C T intron_variant PACA-CA 17 80653786 80653786 single base substitution C G intron_variant PACA-CA 17 80653821 80653821 single base substitution C G intron_variant PACA-CA 17 80653844 80653844 single base substitution C A intron_variant PACA-CA 17 80658367 80658367 single base substitution T G upstream_gene_variant PACA-CA 17 80660579 80660579 single base substitution T C upstream_gene_variant PACA-CA 17 80660863 80660863 single base substitution T C upstream_gene_variant PAEN-AU 17 80609793 80609793 single base substitution C T downstream_gene_variant PAEN-AU 17 80610364 80610364 single base substitution G A downstream_gene_variant PAEN-AU 17 80610932 80610932 single base substitution G A downstream_gene_variant PAEN-AU 17 80629207 80629207 single base substitution T C intron_variant PAEN-AU 17 80629438 80629438 single base substitution C T intron_variant PAEN-AU 17 80629975 80629975 single base substitution C A intron_variant PAEN-AU 17 80634229 80634229 single base substitution A C intron_variant PAEN-AU 17 80655594 80655594 single base substitution A C intron_variant PAEN-AU 17 80655594 80655594 single base substitution A C upstream_gene_variant PAEN-IT 17 80619291 80619291 single base substitution C A intron_variant PAEN-IT 17 80619291 80619291 single base substitution C A upstream_gene_variant PAEN-IT 17 80627505 80627505 single base substitution G T intron_variant PAEN-IT 17 80627505 80627505 single base substitution G T upstream_gene_variant PBCA-DE 17 80609026 80609026 insertion of <=200bp - AC downstream_gene_variant PBCA-DE 17 80609026 80609027 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 17 80616683 80616683 single base substitution C T downstream_gene_variant PBCA-DE 17 80616683 80616683 single base substitution C T exon_variant PBCA-DE 17 80616683 80616683 single base substitution C T intron_variant PBCA-DE 17 80616683 80616683 single base substitution C T upstream_gene_variant PBCA-DE 17 80619081 80619081 single base substitution G A exon_variant PBCA-DE 17 80619081 80619081 single base substitution G A intron_variant PBCA-DE 17 80619081 80619081 single base substitution G A upstream_gene_variant PBCA-DE 17 80619804 80619804 single base substitution T G intron_variant PBCA-DE 17 80619804 80619804 single base substitution T G upstream_gene_variant PBCA-DE 17 80658840 80658840 single base substitution C A upstream_gene_variant PRAD-CA 17 80613417 80613417 single base substitution G C 3_prime_UTR_variant PRAD-CA 17 80613417 80613417 single base substitution G C downstream_gene_variant PRAD-CA 17 80613417 80613417 single base substitution G C exon_variant PRAD-CA 17 80613588 80613588 single base substitution C T 3_prime_UTR_variant PRAD-CA 17 80613588 80613588 single base substitution C T downstream_gene_variant PRAD-CA 17 80613588 80613588 single base substitution C T intron_variant PRAD-CA 17 80628835 80628835 single base substitution G A intron_variant PRAD-CA 17 80640903 80640903 single base substitution C T intron_variant PRAD-CA 17 80651602 80651602 single base substitution C A intron_variant PRAD-UK 17 80632426 80632440 multiple base substitution (>=2bp and <=200bp) AATGGCGTGAACCCA AGTCACTGAGGCTG intron_variant PRAD-UK 17 80644134 80644134 single base substitution C G intron_variant RECA-EU 17 80620752 80620752 single base substitution C G intron_variant RECA-EU 17 80620752 80620752 single base substitution C G upstream_gene_variant RECA-EU 17 80628353 80628353 single base substitution G A intron_variant RECA-EU 17 80632956 80632956 single base substitution G A intron_variant RECA-EU 17 80639116 80639116 single base substitution G A intron_variant RECA-EU 17 80639562 80639562 single base substitution A C intron_variant RECA-EU 17 80641996 80641996 single base substitution C T intron_variant RECA-EU 17 80644228 80644228 single base substitution T G intron_variant RECA-EU 17 80646402 80646402 single base substitution G A intron_variant SKCA-BR 17 80609299 80609299 single base substitution G A downstream_gene_variant SKCA-BR 17 80613515 80613515 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 80613515 80613515 single base substitution G A downstream_gene_variant SKCA-BR 17 80613515 80613515 single base substitution G A exon_variant SKCA-BR 17 80613516 80613516 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 80613516 80613516 single base substitution G A downstream_gene_variant SKCA-BR 17 80613516 80613516 single base substitution G A exon_variant SKCA-BR 17 80616720 80616720 single base substitution C T downstream_gene_variant SKCA-BR 17 80616720 80616720 single base substitution C T exon_variant SKCA-BR 17 80616720 80616720 single base substitution C T intron_variant SKCA-BR 17 80616720 80616720 single base substitution C T upstream_gene_variant SKCA-BR 17 80619806 80619806 single base substitution G A intron_variant SKCA-BR 17 80619806 80619806 single base substitution G A upstream_gene_variant SKCA-BR 17 80620517 80620517 single base substitution G A intron_variant SKCA-BR 17 80620517 80620517 single base substitution G A upstream_gene_variant SKCA-BR 17 80622337 80622337 single base substitution G A intron_variant SKCA-BR 17 80622337 80622337 single base substitution G A upstream_gene_variant SKCA-BR 17 80623769 80623769 single base substitution A C intron_variant SKCA-BR 17 80623769 80623769 single base substitution A C upstream_gene_variant SKCA-BR 17 80623908 80623920 deletion of <=200bp GCACCTGCCACCA - intron_variant SKCA-BR 17 80623908 80623920 deletion of <=200bp GCACCTGCCACCA - upstream_gene_variant SKCA-BR 17 80623920 80623920 single base substitution A G intron_variant SKCA-BR 17 80623920 80623920 single base substitution A G upstream_gene_variant SKCA-BR 17 80626095 80626095 single base substitution G A intron_variant SKCA-BR 17 80626095 80626095 single base substitution G A upstream_gene_variant SKCA-BR 17 80626425 80626425 single base substitution G A intron_variant SKCA-BR 17 80626425 80626425 single base substitution G A upstream_gene_variant SKCA-BR 17 80626426 80626426 single base substitution G A intron_variant SKCA-BR 17 80626426 80626426 single base substitution G A upstream_gene_variant SKCA-BR 17 80627288 80627288 single base substitution T G intron_variant SKCA-BR 17 80627288 80627288 single base substitution T G upstream_gene_variant SKCA-BR 17 80628184 80628184 single base substitution C T intron_variant SKCA-BR 17 80628410 80628411 deletion of <=200bp AT - intron_variant SKCA-BR 17 80629181 80629181 single base substitution C T intron_variant SKCA-BR 17 80630029 80630029 single base substitution G C intron_variant SKCA-BR 17 80630054 80630056 deletion of <=200bp ACT - intron_variant SKCA-BR 17 80630086 80630086 single base substitution C T intron_variant SKCA-BR 17 80630195 80630195 single base substitution C T intron_variant SKCA-BR 17 80630196 80630196 single base substitution C A intron_variant SKCA-BR 17 80630218 80630222 deletion of <=200bp ACACT - intron_variant SKCA-BR 17 80632513 80632514 deletion of <=200bp TA - intron_variant SKCA-BR 17 80633551 80633551 single base substitution C T intron_variant SKCA-BR 17 80633740 80633740 single base substitution A G intron_variant SKCA-BR 17 80637244 80637244 single base substitution G A intron_variant SKCA-BR 17 80638644 80638644 single base substitution A G intron_variant SKCA-BR 17 80641343 80641343 single base substitution G T intron_variant SKCA-BR 17 80641731 80641731 single base substitution G T intron_variant SKCA-BR 17 80642096 80642096 insertion of <=200bp - CAA intron_variant SKCA-BR 17 80644436 80644436 single base substitution G A intron_variant SKCA-BR 17 80644932 80644932 single base substitution G A intron_variant SKCA-BR 17 80650474 80650474 single base substitution T G intron_variant SKCA-BR 17 80653966 80653966 single base substitution G A intron_variant SKCA-BR 17 80653968 80653968 single base substitution A C intron_variant SKCA-BR 17 80655719 80655719 single base substitution G A intron_variant SKCA-BR 17 80655719 80655719 single base substitution G A upstream_gene_variant SKCA-BR 17 80655720 80655720 single base substitution G A intron_variant SKCA-BR 17 80655720 80655720 single base substitution G A upstream_gene_variant SKCA-BR 17 80658395 80658395 single base substitution A T upstream_gene_variant SKCA-BR 17 80660803 80660803 single base substitution C T upstream_gene_variant SKCM-US 17 80616413 80616413 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 17 80616413 80616413 single base substitution G A downstream_gene_variant SKCM-US 17 80616413 80616413 single base substitution G A exon_variant SKCM-US 17 80616413 80616413 single base substitution G A intron_variant SKCM-US 17 80616413 80616413 single base substitution G A missense_variant S123L 368C>T SKCM-US 17 80616413 80616413 single base substitution G A synonymous_variant I173I 519C>T SKCM-US 17 80616413 80616413 single base substitution G A upstream_gene_variant SKCM-US 17 80616565 80616565 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 17 80616565 80616565 single base substitution G A downstream_gene_variant SKCM-US 17 80616565 80616565 single base substitution G A exon_variant SKCM-US 17 80616565 80616565 single base substitution G A intron_variant SKCM-US 17 80616565 80616565 single base substitution G A synonymous_variant L123L 367C>T SKCM-US 17 80616565 80616565 single base substitution G A upstream_gene_variant SKCM-US 17 80617461 80617461 single base substitution C T 5_prime_UTR_variant SKCM-US 17 80617461 80617461 single base substitution C T downstream_gene_variant SKCM-US 17 80617461 80617461 single base substitution C T exon_variant SKCM-US 17 80617461 80617461 single base substitution C T missense_variant D113N 337G>A SKCM-US 17 80617461 80617461 single base substitution C T missense_variant D40N 118G>A SKCM-US 17 80617461 80617461 single base substitution C T upstream_gene_variant STAD-US 17 80615771 80615771 single base substitution T G downstream_gene_variant STAD-US 17 80615771 80615771 single base substitution T G exon_variant STAD-US 17 80615771 80615771 single base substitution T G missense_variant N269H 805A>C STAD-US 17 80615771 80615771 single base substitution T G missense_variant N90H 268A>C STAD-US 17 80615771 80615771 single base substitution T G upstream_gene_variant STAD-US 17 80615775 80615775 insertion of <=200bp - G downstream_gene_variant STAD-US 17 80615775 80615775 insertion of <=200bp - G exon_variant STAD-US 17 80615775 80615775 insertion of <=200bp - G frameshift_variant P267P? STAD-US 17 80615775 80615775 insertion of <=200bp - G frameshift_variant P88P? STAD-US 17 80615775 80615775 insertion of <=200bp - G upstream_gene_variant STAD-US 17 80615786 80615786 insertion of <=200bp - G downstream_gene_variant STAD-US 17 80615786 80615786 insertion of <=200bp - G exon_variant STAD-US 17 80615786 80615786 insertion of <=200bp - G frameshift_variant Q264P? STAD-US 17 80615786 80615786 insertion of <=200bp - G frameshift_variant Q85P? STAD-US 17 80615786 80615786 insertion of <=200bp - G upstream_gene_variant STAD-US 17 80616484 80616484 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 17 80616484 80616484 single base substitution C T downstream_gene_variant STAD-US 17 80616484 80616484 single base substitution C T exon_variant STAD-US 17 80616484 80616484 single base substitution C T intron_variant STAD-US 17 80616484 80616484 single base substitution C T missense_variant V150M 448G>A STAD-US 17 80616484 80616484 single base substitution C T upstream_gene_variant STAD-US 17 80617530 80617530 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 17 80617530 80617530 single base substitution C T downstream_gene_variant STAD-US 17 80617530 80617530 single base substitution C T exon_variant STAD-US 17 80617530 80617530 single base substitution C T missense_variant V17M 49G>A STAD-US 17 80617530 80617530 single base substitution C T missense_variant V90M 268G>A STAD-US 17 80617530 80617530 single base substitution C T upstream_gene_variant THCA-SA 17 80617477 80617477 deletion of <=200bp T - 5_prime_UTR_variant THCA-SA 17 80617477 80617477 deletion of <=200bp T - downstream_gene_variant THCA-SA 17 80617477 80617477 deletion of <=200bp T - exon_variant THCA-SA 17 80617477 80617477 deletion of <=200bp T - frameshift_variant R107 THCA-SA 17 80617477 80617477 deletion of <=200bp T - frameshift_variant R34 THCA-SA 17 80617477 80617477 deletion of <=200bp T - upstream_gene_variant UCEC-US 17 80615899 80615899 single base substitution G A 3_prime_UTR_variant UCEC-US 17 80615899 80615899 single base substitution G A downstream_gene_variant UCEC-US 17 80615899 80615899 single base substitution G A exon_variant UCEC-US 17 80615899 80615899 single base substitution G A missense_variant S226L 677C>T UCEC-US 17 80615899 80615899 single base substitution G A missense_variant S47L 140C>T UCEC-US 17 80615899 80615899 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 10748 COSM3728252 c.540G>A p.M180I Substitution - Missense 17:82658516-82658516 - Gp2D COSM2807072 c.7G>A p.A3T Substitution - Missense 17:82698590-82698590 - TCGA-EE-A29X-06 COSM2807048 c.519C>T p.I173I Substitution - coding silent 17:82658537-82658537 - TCGA-BR-4361-01 COSM4070934 c.805A>C p.N269H Substitution - Missense 17:82657895-82657895 - TCGA-BR-8078-01 COSM4070935 c.448G>A p.V150M Substitution - Missense 17:82658608-82658608 - CSCC-62-T COSM4487525 c.319C>T p.R107* Substitution - Nonsense 17:82659603-82659603 - ESCC_84 COSM5649787 c.125C>A p.P42Q Substitution - Missense 17:82698472-82698472 - T3091 COSM4719846 c.791delA p.Q264fs*>15 Deletion - Frameshift 17:82657909-82657909 - TCGA-EE-A2GC-06 COSM3523896 c.367C>T p.L123L Substitution - coding silent 17:82658689-82658689 - 10P2 COSM1387527 c.790_791insC p.Q264fs*>16 Insertion - Frameshift 17:82657909-82657910 - UM-SCC-2 COSM4603314 c.791_792insC p.Q264fs*>16 Insertion - Frameshift 17:82657908-82657909 - TCGA-DK-A2I4-01 COSM3796255 c.489C>T p.I163I Substitution - coding silent 17:82658567-82658567 - TCGA-AA-3492-01 COSM1387528 c.392C>A p.A131E Substitution - Missense 17:82658664-82658664 - ESO-0292 COSM253082 c.790delC p.Q264fs*>15 Deletion - Frameshift 17:82657910-82657910 - PTC_221 COSM5960159 c.321delA p.W108fs*43 Deletion - Frameshift 17:82659601-82659601 - MOLT-4 COSM1683531 c.325_326insT p.K110fs*1 Insertion - Frameshift 17:82659596-82659597 - TCGA-BP-4801-01 COSM473581 c.156G>T p.K52N Substitution - Missense 17:82664543-82664543 - CCC67T COSM3717796 c.363G>T p.K121N Substitution - Missense 17:82658693-82658693 - ESCC_129 COSM5641819 c.790C>G p.Q264E Substitution - Missense 17:82657910-82657910 - 1115154 COSM5570119 c.158C>T p.T53M Substitution - Missense 17:82664541-82664541 - 2000362 COSM1582367 c.407T>G p.V136G Substitution - Missense 17:82658649-82658649 - LUAD-B01811 COSM355851 c.203+1G>T p.? Unknown 17:82664495-82664495 - B37 COSM1750431 c.337G>A p.D113N Substitution - Missense 17:82659585-82659585 - CRC-02T COSM5454634 c.259G>A p.A87T Substitution - Missense 17:82660992-82660992 - C135 COSM1387527 c.790_791insC p.Q264fs*>16 Insertion - Frameshift 17:82657909-82657910 - TCGA-B4-5836-01 COSM1494074 c.701G>A p.R234K Substitution - Missense 17:82657999-82657999 - S0057 COSM5882964 c.64G>T p.D22Y Substitution - Missense 17:82698533-82698533 - Gp5D COSM2807072 c.7G>A p.A3T Substitution - Missense 17:82698590-82698590 - 723-03-2TD COSM5028401 c.296G>A p.R99H Substitution - Missense 17:82659626-82659626 - TCGA-CG-4442-01 COSM4070936 c.268G>A p.V90M Substitution - Missense 17:82659654-82659654 - OV207 COSM253082 c.790delC p.Q264fs*>15 Deletion - Frameshift 17:82657910-82657910 - MB128PT COSM88052 c.791A>C p.Q264P Substitution - Missense 17:82657909-82657909 - CCC67 COSM3717796 c.363G>T p.K121N Substitution - Missense 17:82658693-82658693 - HCC106 COSM1611028 c.657A>C p.R219S Substitution - Missense 17:82658043-82658043 - TCGA-A6-6781-01 COSM253082 c.790delC p.Q264fs*>15 Deletion - Frameshift 17:82657910-82657910 - B37-Tumor COSM1750431 c.337G>A p.D113N Substitution - Missense 17:82659585-82659585 - BZ08 COSM5758022 c.22G>A p.V8I Substitution - Missense 17:82698575-82698575 - CSB22 COSM5028401 c.296G>A p.R99H Substitution - Missense 17:82659626-82659626 - HCC106T COSM1611028 c.657A>C p.R219S Substitution - Missense 17:82658043-82658043 - YUPAER COSM5387731 c.396C>T p.F132F Substitution - coding silent 17:82658660-82658660 - 09_4178 COSM1644929 c.764G>C p.R255P Substitution - Missense 17:82657936-82657936 - TCGA-EB-A3Y7-01 COSM1750431 c.337G>A p.D113N Substitution - Missense 17:82659585-82659585 - 3N24-VS-3T24 COSM4979731 c.258C>T p.G86G Substitution - coding silent 17:82660993-82660993 - LIM2551 COSM253082 c.790delC p.Q264fs*>15 Deletion - Frameshift 17:82657910-82657910 - TCGA-A8-A09B-01 COSM437845 c.601G>A p.V201M Substitution - Missense 17:82658099-82658099 - TCGA-D1-A17Q-01 COSM986161 c.677C>T p.S226L Substitution - Missense 17:82658023-82658023 - TCGA-BT-A20T-01 COSM417905 c.486C>A p.N162K Substitution - Missense 17:82658570-82658570 - TCGA-EE-A2ML-06 COSM2807048 c.519C>T p.I173I Substitution - coding silent 17:82658537-82658537 - ESO-077 COSM1263704 c.400C>T p.R134W Substitution - Missense 17:82658656-82658656 - TCGA-D5-6924-01 COSM88052 c.791A>C p.Q264P Substitution - Missense 17:82657909-82657909 - CHC1192T COSM4803513 c.22G>T p.V8F Substitution - Missense 17:82698575-82698575 - BD124T COSM2807056 c.343-6C>T p.? Unknown 17:82658719-82658719 - T2417 COSM4719847 c.558G>A p.P186P Substitution - coding silent 17:82658498-82658498 - PT27 COSM5906066 c.637C>T p.P213S Substitution - Missense 17:82658063-82658063 - Mel-2 COSM3726921 c.611C>A p.T204K Substitution - Missense 17:82658089-82658089 - CSCC-20-T COSM4495151 c.447C>T p.G149G Substitution - coding silent 17:82658609-82658609 - AOCS-130-1-0 COSM4139980 c.40C>G p.L14V Substitution - Missense 17:82698557-82698557 - NOKSI COSM4596161 c.541G>A p.D181N Substitution - Missense 17:82658515-82658515 - PTC-46C COSM88052 c.791A>C p.Q264P Substitution - Missense 17:82657909-82657909 - TCGA-P4-A5E8-01 COSM4414584 c.284A>T p.D95V Substitution - Missense 17:82659638-82659638 - TCGA-63-5131-01 COSM708560 c.255G>T p.R85R Substitution - coding silent 17:82660996-82660996 - pfg122T COSM4070935 c.448G>A p.V150M Substitution - Missense 17:82658608-82658608 - KPOPBR-48-T COSM88052 c.791A>C p.Q264P Substitution - Missense 17:82657909-82657909 - TCGA-BT-A0YX-01 COSM417904 c.460G>C p.E154Q Substitution - Missense 17:82658596-82658596 - pfg068T COSM253082 c.790delC p.Q264fs*>15 Deletion - Frameshift 17:82657910-82657910 - CHC1192T COSM4803513 c.22G>T p.V8F Substitution - Missense 17:82698575-82698575 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.484068 17q25.3 2478124|CGAP|BC018039|A/G|non-coding||1411|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer CA - IntronicDeletion . c.143-11713_143-11712delTG 17 80634144 CLL - CA IntronicInsertion . c.143-6717_143-6716insTG 17 80629148 CM C A Missense p.K52N c.156G>T 17 80622419 RCCC C A Synonymous p.R85R c.255G>T 17 80618872 LUSC C G Missense p.E154Q c.460G>C 17 80616472 BLCA C T Missense p.R99H c.296G>A 17 80617502 BRCA C T Missense p.V201M c.601G>A 17 80615975 BRCA G A IntronicSNV . c.143-4755C>T 17 80627187 CLL G A Missense p.P213L c.638C>T 17 80615938 COREAD G A Missense p.T138M c.413C>T 17 80616519 BRCA G A Synonymous p.I163I c.489C>T 17 80616443 BLCA G A Synonymous p.I173I c.519C>T 17 80616413 CM G A Synonymous p.L123L c.367C>T 17 80616565 CM G C Synonymous p.A10A c.30C>G 17 80656443 CM T A Missense p.T55S c.163A>T 17 80622412 LUAD - T IntronicInsertion . c.143-7719dupA 17 80630150 CM