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 4 41259007 41259007 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 g.chr4:41259007C>G c.14C>G c.(13-15)cCg>cGg p.P5R BLCA 4 41262687 41262687 + Missense_Mutation SNP G G C TCGA-4Z-AA81-01A-11D-A391-08 TCGA-4Z-AA81-10A-01D-A394-08 g.chr4:41262687G>C c.198G>C c.(196-198)caG>caC p.Q66H BLCA 4 41263746 41263746 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 g.chr4:41263746C>T c.340C>T c.(340-342)Ctg>Ttg p.L114L BLCA 4 41265302 41265302 + Missense_Mutation SNP G G A TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr4:41265302G>A c.520G>A c.(520-522)Gaa>Aaa p.E174K BRCA 4 41262732 41262732 + Silent SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr4:41262732C>T c.243C>T c.(241-243)ttC>ttT p.F81F BRCA 4 41266170 41266170 + Silent SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr4:41266170C>T c.577C>T c.(577-579)Ctg>Ttg p.L193L CESC 4 41262670 41262670 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr4:41262670A>C c.181A>C c.(181-183)Aac>Cac p.N61H COAD 4 41262789 41262789 + Silent SNP C C A TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr4:41262789C>A c.300C>A c.(298-300)gcC>gcA p.A100A COAD 4 41263795 41263795 + Missense_Mutation SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr4:41263795C>T c.389C>T c.(388-390)gCa>gTa p.A130V COAD 4 41263916 41263916 + Silent SNP C C T TCGA-AA-3980-01A-02W-0995-10 TCGA-AA-3980-10A-01W-0999-10 g.chr4:41263916C>T c.435C>T c.(433-435)gcC>gcT p.A145A COAD 4 41266139 41266139 + Silent SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr4:41266139G>A c.546G>A c.(544-546)ccG>ccA p.P182P COADREAD 4 41262789 41262789 + Silent SNP C C A TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr4:41262789C>A c.300C>A c.(298-300)gcC>gcA p.A100A COADREAD 4 41263795 41263795 + Missense_Mutation SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr4:41263795C>T c.389C>T c.(388-390)gCa>gTa p.A130V COADREAD 4 41263916 41263916 + Silent SNP C C T TCGA-AA-3980-01A-02W-0995-10 TCGA-AA-3980-10A-01W-0999-10 g.chr4:41263916C>T c.435C>T c.(433-435)gcC>gcT p.A145A COADREAD 4 41266139 41266139 + Silent SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr4:41266139G>A c.546G>A c.(544-546)ccG>ccA p.P182P COADREAD 4 41270067 41270067 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:41270067G>A c.649G>A c.(649-651)Gtg>Atg p.V217M HNSC 4 41265298 41265298 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 g.chr4:41265298C>T c.516C>T c.(514-516)ctC>ctT p.L172L KICH 4 41259633 41259633 + Missense_Mutation SNP C C A TCGA-KL-8334-01A-11D-2310-10 TCGA-KL-8334-11A-01D-2310-10 g.chr4:41259633C>A c.53C>A c.(52-54)tCc>tAc p.S18Y KIPAN 4 41259633 41259633 + Missense_Mutation SNP C C A TCGA-KL-8334-01A-11D-2310-10 TCGA-KL-8334-11A-01D-2310-10 g.chr4:41259633C>A c.53C>A c.(52-54)tCc>tAc p.S18Y LIHC 4 41266155 41266155 + Missense_Mutation SNP A A T TCGA-ED-A7PZ-01A-11D-A33Q-10 TCGA-ED-A7PZ-10A-01D-A33Q-10 g.chr4:41266155A>T c.562A>T c.(562-564)Agt>Tgt p.S188C LUAD 4 41258998 41258998 + Missense_Mutation SNP A A T TCGA-44-A47A-01A-21D-A24D-08 TCGA-44-A47A-10A-01D-A24F-08 g.chr4:41258998A>T c.5A>T c.(4-6)cAg>cTg p.Q2L LUAD 4 41262814 41262814 + Splice_Site SNP G G T TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr4:41262814G>T c.325G>T c.(325-327)Gag>Tag p.E109* LUAD 4 41266139 41266139 + Silent SNP G G A TCGA-55-8085-01A-11D-2238-08 TCGA-55-8085-10A-01D-2238-08 g.chr4:41266139G>A c.546G>A c.(544-546)ccG>ccA p.P182P LUAD 4 41270006 41270006 + Missense_Mutation SNP C C A TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr4:41270006C>A c.588C>A c.(586-588)gaC>gaA p.D196E LUAD 4 41270013 41270013 + Missense_Mutation SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 g.chr4:41270013A>G c.595A>G c.(595-597)Aag>Gag p.K199E READ 4 41270067 41270067 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:41270067G>A c.649G>A c.(649-651)Gtg>Atg p.V217M SKCM 4 41262675 41262675 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr4:41262675C>T c.186C>T c.(184-186)ttC>ttT p.F62F SKCM 4 41262768 41262768 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr4:41262768C>T c.279C>T c.(277-279)atC>atT p.I93I SKCM 4 41262768 41262768 + Silent SNP C C T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr4:41262768C>T c.279C>T c.(277-279)atC>atT p.I93I SKCM 4 41263915 41263915 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:41263915C>T c.434C>T c.(433-435)gCc>gTc p.A145V SKCM 4 41265263 41265263 + Missense_Mutation SNP C C T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr4:41265263C>T c.481C>T c.(481-483)Cat>Tat p.H161Y SKCM 4 41265263 41265263 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr4:41265263C>T c.481C>T c.(481-483)Cat>Tat p.H161Y SKCM 4 41265263 41265263 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr4:41265263C>T c.481C>T c.(481-483)Cat>Tat p.H161Y SKCM 4 41266174 41266174 + Missense_Mutation SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr4:41266174T>C c.581T>C c.(580-582)cTg>cCg p.L194P

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 4 41259008 41259008 single base substitution G A exon_variant BLCA-CN 4 41259008 41259008 single base substitution G A synonymous_variant P5P 15G>A BLCA-CN 4 41259008 41259008 single base substitution G A upstream_gene_variant BLCA-US 4 41259007 41259007 single base substitution C G exon_variant BLCA-US 4 41259007 41259007 single base substitution C G missense_variant P5R 14C>G BLCA-US 4 41259007 41259007 single base substitution C G upstream_gene_variant BLCA-US 4 41263746 41263746 single base substitution C T 3_prime_UTR_variant BLCA-US 4 41263746 41263746 single base substitution C T downstream_gene_variant BLCA-US 4 41263746 41263746 single base substitution C T exon_variant BLCA-US 4 41263746 41263746 single base substitution C T synonymous_variant L114L 340C>T BLCA-US 4 41263746 41263746 single base substitution C T upstream_gene_variant BRCA-EU 4 41253493 41253493 single base substitution G A upstream_gene_variant BRCA-EU 4 41253674 41253674 single base substitution G C upstream_gene_variant BRCA-EU 4 41253854 41253854 single base substitution C T upstream_gene_variant BRCA-EU 4 41254388 41254388 single base substitution G C upstream_gene_variant BRCA-EU 4 41254937 41254937 single base substitution T C upstream_gene_variant BRCA-EU 4 41256311 41256311 single base substitution T A upstream_gene_variant BRCA-EU 4 41256481 41256481 single base substitution T A upstream_gene_variant BRCA-EU 4 41256587 41256587 deletion of <=200bp A - upstream_gene_variant BRCA-EU 4 41257438 41257438 single base substitution C A upstream_gene_variant BRCA-EU 4 41258457 41258457 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 4 41258457 41258457 single base substitution C T upstream_gene_variant BRCA-EU 4 41258536 41258536 deletion of <=200bp G - intron_variant BRCA-EU 4 41258536 41258536 deletion of <=200bp G - upstream_gene_variant BRCA-EU 4 41259422 41259422 single base substitution A T exon_variant BRCA-EU 4 41259422 41259422 single base substitution A T intron_variant BRCA-EU 4 41259422 41259422 single base substitution A T upstream_gene_variant BRCA-EU 4 41259430 41259430 single base substitution C A exon_variant BRCA-EU 4 41259430 41259430 single base substitution C A intron_variant BRCA-EU 4 41259430 41259430 single base substitution C A upstream_gene_variant BRCA-EU 4 41259897 41259897 single base substitution C T downstream_gene_variant BRCA-EU 4 41259897 41259897 single base substitution C T intron_variant BRCA-EU 4 41259897 41259897 single base substitution C T upstream_gene_variant BRCA-EU 4 41260518 41260518 single base substitution G C downstream_gene_variant BRCA-EU 4 41260518 41260518 single base substitution G C intron_variant BRCA-EU 4 41260518 41260518 single base substitution G C upstream_gene_variant BRCA-EU 4 41260947 41260947 single base substitution G C downstream_gene_variant BRCA-EU 4 41260947 41260947 single base substitution G C intron_variant BRCA-EU 4 41260947 41260947 single base substitution G C upstream_gene_variant BRCA-EU 4 41262183 41262183 single base substitution C G downstream_gene_variant BRCA-EU 4 41262183 41262183 single base substitution C G intron_variant BRCA-EU 4 41262183 41262183 single base substitution C G upstream_gene_variant BRCA-EU 4 41262512 41262512 single base substitution G A downstream_gene_variant BRCA-EU 4 41262512 41262512 single base substitution G A intron_variant BRCA-EU 4 41262512 41262512 single base substitution G A upstream_gene_variant BRCA-EU 4 41262623 41262623 single base substitution A G downstream_gene_variant BRCA-EU 4 41262623 41262623 single base substitution A G intron_variant BRCA-EU 4 41262623 41262623 single base substitution A G upstream_gene_variant BRCA-EU 4 41265639 41265639 single base substitution C T downstream_gene_variant BRCA-EU 4 41265639 41265639 single base substitution C T intron_variant BRCA-EU 4 41265709 41265709 single base substitution G C downstream_gene_variant BRCA-EU 4 41265709 41265709 single base substitution G C intron_variant BRCA-EU 4 41265898 41265898 single base substitution C T downstream_gene_variant BRCA-EU 4 41265898 41265898 single base substitution C T intron_variant BRCA-EU 4 41266377 41266377 single base substitution C G downstream_gene_variant BRCA-EU 4 41266377 41266377 single base substitution C G exon_variant BRCA-EU 4 41266377 41266377 single base substitution C G intron_variant BRCA-EU 4 41267711 41267711 single base substitution T A downstream_gene_variant BRCA-EU 4 41267711 41267711 single base substitution T A intron_variant BRCA-EU 4 41267823 41267823 single base substitution A G downstream_gene_variant BRCA-EU 4 41267823 41267823 single base substitution A G intron_variant BRCA-EU 4 41269813 41269813 single base substitution C G downstream_gene_variant BRCA-EU 4 41269813 41269813 single base substitution C G intron_variant BRCA-EU 4 41269941 41269941 single base substitution C T downstream_gene_variant BRCA-EU 4 41269941 41269941 single base substitution C T intron_variant BRCA-EU 4 41271611 41271611 single base substitution C G downstream_gene_variant BRCA-EU 4 41274753 41274753 single base substitution G A downstream_gene_variant BRCA-EU 4 41275092 41275092 single base substitution G C downstream_gene_variant BRCA-EU 4 41275403 41275403 deletion of <=200bp T - downstream_gene_variant BRCA-FR 4 41253674 41253674 single base substitution G C upstream_gene_variant BRCA-FR 4 41274753 41274753 single base substitution G A downstream_gene_variant BRCA-KR 4 41262817 41262817 single base substitution A G downstream_gene_variant BRCA-KR 4 41262817 41262817 single base substitution A G intron_variant BRCA-KR 4 41262817 41262817 single base substitution A G splice_region_variant BRCA-KR 4 41262817 41262817 single base substitution A G upstream_gene_variant BRCA-UK 4 41262594 41262594 single base substitution G C downstream_gene_variant BRCA-UK 4 41262594 41262594 single base substitution G C intron_variant BRCA-UK 4 41262594 41262594 single base substitution G C upstream_gene_variant BRCA-US 4 41262732 41262732 single base substitution C T 3_prime_UTR_variant BRCA-US 4 41262732 41262732 single base substitution C T downstream_gene_variant BRCA-US 4 41262732 41262732 single base substitution C T exon_variant BRCA-US 4 41262732 41262732 single base substitution C T synonymous_variant F81F 243C>T BRCA-US 4 41262732 41262732 single base substitution C T upstream_gene_variant BRCA-US 4 41266170 41266170 single base substitution C T 3_prime_UTR_variant BRCA-US 4 41266170 41266170 single base substitution C T downstream_gene_variant BRCA-US 4 41266170 41266170 single base substitution C T exon_variant BRCA-US 4 41266170 41266170 single base substitution C T synonymous_variant L177L 529C>T BRCA-US 4 41266170 41266170 single base substitution C T synonymous_variant L193L 577C>T CESC-US 4 41262670 41262670 single base substitution A C downstream_gene_variant CESC-US 4 41262670 41262670 single base substitution A C exon_variant CESC-US 4 41262670 41262670 single base substitution A C missense_variant N61H 181A>C CESC-US 4 41262670 41262670 single base substitution A C upstream_gene_variant CLLE-ES 4 41255886 41255886 single base substitution G A upstream_gene_variant COAD-US 4 41263938 41263938 single base substitution C T downstream_gene_variant COAD-US 4 41263938 41263938 single base substitution C T exon_variant COAD-US 4 41263938 41263938 single base substitution C T intron_variant COAD-US 4 41263938 41263938 single base substitution C T missense_variant R153W 457C>T COAD-US 4 41263938 41263938 single base substitution C T splice_region_variant COAD-US 4 41266139 41266139 single base substitution G A 3_prime_UTR_variant COAD-US 4 41266139 41266139 single base substitution G A downstream_gene_variant COAD-US 4 41266139 41266139 single base substitution G A exon_variant COAD-US 4 41266139 41266139 single base substitution G A synonymous_variant P166P 498G>A COAD-US 4 41266139 41266139 single base substitution G A synonymous_variant P182P 546G>A COCA-CN 4 41258947 41258947 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 4 41258947 41258947 single base substitution C A exon_variant COCA-CN 4 41258947 41258947 single base substitution C A intron_variant COCA-CN 4 41258947 41258947 single base substitution C A upstream_gene_variant COCA-CN 4 41259633 41259633 single base substitution C A exon_variant COCA-CN 4 41259633 41259633 single base substitution C A missense_variant S18Y 53C>A COCA-CN 4 41259633 41259633 single base substitution C A upstream_gene_variant COCA-CN 4 41262678 41262678 single base substitution G T downstream_gene_variant COCA-CN 4 41262678 41262678 single base substitution G T exon_variant COCA-CN 4 41262678 41262678 single base substitution G T missense_variant R63S 189G>T COCA-CN 4 41262678 41262678 single base substitution G T upstream_gene_variant COCA-CN 4 41262898 41262898 single base substitution G T downstream_gene_variant COCA-CN 4 41262898 41262898 single base substitution G T intron_variant COCA-CN 4 41262898 41262898 single base substitution G T upstream_gene_variant COCA-CN 4 41266372 41266372 single base substitution A C downstream_gene_variant COCA-CN 4 41266372 41266372 single base substitution A C exon_variant COCA-CN 4 41266372 41266372 single base substitution A C intron_variant ESAD-UK 4 41255733 41255733 single base substitution A C upstream_gene_variant ESAD-UK 4 41256995 41256995 single base substitution G A upstream_gene_variant ESAD-UK 4 41258821 41258821 single base substitution G T intron_variant ESAD-UK 4 41258821 41258821 single base substitution G T splice_donor_variant ESAD-UK 4 41258821 41258821 single base substitution G T upstream_gene_variant ESAD-UK 4 41259061 41259061 single base substitution G A intron_variant ESAD-UK 4 41259061 41259061 single base substitution G A upstream_gene_variant ESAD-UK 4 41259259 41259259 single base substitution G A exon_variant ESAD-UK 4 41259259 41259259 single base substitution G A intron_variant ESAD-UK 4 41259259 41259259 single base substitution G A upstream_gene_variant ESAD-UK 4 41262985 41262985 single base substitution C G downstream_gene_variant ESAD-UK 4 41262985 41262985 single base substitution C G intron_variant ESAD-UK 4 41262985 41262985 single base substitution C G upstream_gene_variant ESAD-UK 4 41266349 41266349 single base substitution C T downstream_gene_variant ESAD-UK 4 41266349 41266349 single base substitution C T exon_variant ESAD-UK 4 41266349 41266349 single base substitution C T intron_variant ESAD-UK 4 41267720 41267720 single base substitution G C downstream_gene_variant ESAD-UK 4 41267720 41267720 single base substitution G C intron_variant ESAD-UK 4 41269283 41269283 single base substitution C T downstream_gene_variant ESAD-UK 4 41269283 41269283 single base substitution C T intron_variant ESAD-UK 4 41269361 41269361 single base substitution C T downstream_gene_variant ESAD-UK 4 41269361 41269361 single base substitution C T intron_variant ESAD-UK 4 41269362 41269362 single base substitution G A downstream_gene_variant ESAD-UK 4 41269362 41269362 single base substitution G A intron_variant ESAD-UK 4 41269870 41269870 single base substitution G T downstream_gene_variant ESAD-UK 4 41269870 41269870 single base substitution G T intron_variant ESAD-UK 4 41270034 41270034 single base substitution G A 3_prime_UTR_variant ESAD-UK 4 41270034 41270034 single base substitution G A downstream_gene_variant ESAD-UK 4 41270034 41270034 single base substitution G A exon_variant ESAD-UK 4 41270034 41270034 single base substitution G A missense_variant E190K 568G>A ESAD-UK 4 41270034 41270034 single base substitution G A missense_variant E206K 616G>A ESAD-UK 4 41270034 41270034 single base substitution G A synonymous_variant P215P 645G>A ESAD-UK 4 41272028 41272028 single base substitution T A downstream_gene_variant ESAD-UK 4 41272029 41272029 single base substitution A T downstream_gene_variant ESCA-CN 4 41263719 41263719 deletion of <=200bp T - downstream_gene_variant ESCA-CN 4 41263719 41263719 deletion of <=200bp T - intron_variant ESCA-CN 4 41263719 41263719 deletion of <=200bp T - upstream_gene_variant ESCA-CN 4 41265989 41265989 single base substitution C G downstream_gene_variant ESCA-CN 4 41265989 41265989 single base substitution C G intron_variant LAML-KR 4 41265989 41265989 single base substitution C G downstream_gene_variant LAML-KR 4 41265989 41265989 single base substitution C G intron_variant LAML-KR 4 41265994 41265994 single base substitution C A downstream_gene_variant LAML-KR 4 41265994 41265994 single base substitution C A intron_variant LICA-CN 4 41270019 41270019 single base substitution T A 3_prime_UTR_variant LICA-CN 4 41270019 41270019 single base substitution T A downstream_gene_variant LICA-CN 4 41270019 41270019 single base substitution T A exon_variant LICA-CN 4 41270019 41270019 single base substitution T A missense_variant C185S 553T>A LICA-CN 4 41270019 41270019 single base substitution T A missense_variant C201S 601T>A LICA-CN 4 41270019 41270019 single base substitution T A synonymous_variant S210S 630T>A LICA-FR 4 41272595 41272595 single base substitution C T downstream_gene_variant LICA-FR 4 41273472 41273472 single base substitution T G downstream_gene_variant LICA-FR 4 41273826 41273826 single base substitution C T downstream_gene_variant LIHC-US 4 41266155 41266155 single base substitution A T 3_prime_UTR_variant LIHC-US 4 41266155 41266155 single base substitution A T downstream_gene_variant LIHC-US 4 41266155 41266155 single base substitution A T exon_variant LIHC-US 4 41266155 41266155 single base substitution A T missense_variant S172C 514A>T LIHC-US 4 41266155 41266155 single base substitution A T missense_variant S188C 562A>T LINC-JP 4 41258818 41258818 single base substitution G C intron_variant LINC-JP 4 41258818 41258818 single base substitution G C splice_region_variant LINC-JP 4 41258818 41258818 single base substitution G C upstream_gene_variant LINC-JP 4 41259032 41259032 single base substitution C T exon_variant LINC-JP 4 41259032 41259032 single base substitution C T intron_variant LINC-JP 4 41259032 41259032 single base substitution C T splice_region_variant LINC-JP 4 41259032 41259032 single base substitution C T upstream_gene_variant LINC-JP 4 41260520 41260520 insertion of <=200bp - T downstream_gene_variant LINC-JP 4 41260520 41260520 insertion of <=200bp - T intron_variant LINC-JP 4 41260520 41260520 insertion of <=200bp - T upstream_gene_variant LINC-JP 4 41264110 41264110 single base substitution A G downstream_gene_variant LINC-JP 4 41264110 41264110 single base substitution A G intron_variant LINC-JP 4 41264111 41264111 single base substitution G T downstream_gene_variant LINC-JP 4 41264111 41264111 single base substitution G T intron_variant LINC-JP 4 41265414 41265414 single base substitution T C downstream_gene_variant LINC-JP 4 41265414 41265414 single base substitution T C intron_variant LINC-JP 4 41270216 41270216 single base substitution G T 3_prime_UTR_variant LINC-JP 4 41270216 41270216 single base substitution G T downstream_gene_variant LINC-JP 4 41270216 41270216 single base substitution G T exon_variant LINC-JP 4 41272029 41272029 single base substitution A T downstream_gene_variant LINC-JP 4 41275221 41275221 single base substitution A G downstream_gene_variant LIRI-JP 4 41255660 41255660 single base substitution C T upstream_gene_variant LIRI-JP 4 41257174 41257174 single base substitution C T upstream_gene_variant LIRI-JP 4 41260509 41260509 single base substitution A G downstream_gene_variant LIRI-JP 4 41260509 41260509 single base substitution A G intron_variant LIRI-JP 4 41260509 41260509 single base substitution A G upstream_gene_variant LIRI-JP 4 41261648 41261648 single base substitution G T downstream_gene_variant LIRI-JP 4 41261648 41261648 single base substitution G T intron_variant LIRI-JP 4 41261648 41261648 single base substitution G T upstream_gene_variant LIRI-JP 4 41262076 41262076 single base substitution C T downstream_gene_variant LIRI-JP 4 41262076 41262076 single base substitution C T intron_variant LIRI-JP 4 41262076 41262076 single base substitution C T upstream_gene_variant LIRI-JP 4 41262275 41262275 single base substitution G A downstream_gene_variant LIRI-JP 4 41262275 41262275 single base substitution G A intron_variant LIRI-JP 4 41262275 41262275 single base substitution G A upstream_gene_variant LIRI-JP 4 41263810 41263811 deletion of <=200bp AG - 3_prime_UTR_variant LIRI-JP 4 41263810 41263811 deletion of <=200bp AG - downstream_gene_variant LIRI-JP 4 41263810 41263811 deletion of <=200bp AG - exon_variant LIRI-JP 4 41263810 41263811 deletion of <=200bp AG - frameshift_variant K135 LIRI-JP 4 41265744 41265744 single base substitution G A downstream_gene_variant LIRI-JP 4 41265744 41265744 single base substitution G A intron_variant LIRI-JP 4 41265947 41265947 single base substitution G T downstream_gene_variant LIRI-JP 4 41265947 41265947 single base substitution G T intron_variant LIRI-JP 4 41270564 41270564 single base substitution A G downstream_gene_variant LIRI-JP 4 41271476 41271476 single base substitution C G downstream_gene_variant LUSC-KR 4 41255897 41255897 single base substitution C T upstream_gene_variant LUSC-KR 4 41256020 41256020 single base substitution C A upstream_gene_variant LUSC-KR 4 41256417 41256417 single base substitution C T upstream_gene_variant LUSC-KR 4 41257445 41257445 single base substitution C G upstream_gene_variant LUSC-KR 4 41265919 41265919 single base substitution C G downstream_gene_variant LUSC-KR 4 41265919 41265919 single base substitution C G intron_variant LUSC-KR 4 41265989 41265989 single base substitution C G downstream_gene_variant LUSC-KR 4 41265989 41265989 single base substitution C G intron_variant LUSC-KR 4 41265994 41265994 single base substitution C A downstream_gene_variant LUSC-KR 4 41265994 41265994 single base substitution C A intron_variant LUSC-KR 4 41266295 41266295 single base substitution C T downstream_gene_variant LUSC-KR 4 41266295 41266295 single base substitution C T exon_variant LUSC-KR 4 41266295 41266295 single base substitution C T intron_variant LUSC-KR 4 41272793 41272793 single base substitution A G downstream_gene_variant LUSC-KR 4 41272811 41272811 single base substitution T C downstream_gene_variant MALY-DE 4 41254315 41254315 single base substitution C T upstream_gene_variant MALY-DE 4 41255166 41255166 single base substitution C A upstream_gene_variant MALY-DE 4 41272018 41272018 deletion of <=200bp T - downstream_gene_variant MALY-DE 4 41272244 41272244 single base substitution C T downstream_gene_variant MELA-AU 4 41253500 41253500 single base substitution G A upstream_gene_variant MELA-AU 4 41253521 41253521 single base substitution C T upstream_gene_variant MELA-AU 4 41253886 41253886 single base substitution G A upstream_gene_variant MELA-AU 4 41253922 41253922 single base substitution C T upstream_gene_variant MELA-AU 4 41253974 41253993 deletion of <=200bp TTGTAGCCAAGGATAATTAT - upstream_gene_variant MELA-AU 4 41254195 41254195 single base substitution C T upstream_gene_variant MELA-AU 4 41254291 41254291 single base substitution C T upstream_gene_variant MELA-AU 4 41254312 41254312 single base substitution G A upstream_gene_variant MELA-AU 4 41254313 41254313 single base substitution G A upstream_gene_variant MELA-AU 4 41254339 41254339 single base substitution C T upstream_gene_variant MELA-AU 4 41254449 41254449 single base substitution C T upstream_gene_variant MELA-AU 4 41254492 41254492 single base substitution G A upstream_gene_variant MELA-AU 4 41254953 41254953 single base substitution C T upstream_gene_variant MELA-AU 4 41255085 41255085 single base substitution C T upstream_gene_variant MELA-AU 4 41255205 41255205 single base substitution G A upstream_gene_variant MELA-AU 4 41255527 41255527 single base substitution G A upstream_gene_variant MELA-AU 4 41255543 41255543 single base substitution T A upstream_gene_variant MELA-AU 4 41255578 41255578 single base substitution C T upstream_gene_variant MELA-AU 4 41255620 41255620 single base substitution C T upstream_gene_variant MELA-AU 4 41256097 41256097 single base substitution G A upstream_gene_variant MELA-AU 4 41256128 41256128 single base substitution A G upstream_gene_variant MELA-AU 4 41256221 41256221 single base substitution C T upstream_gene_variant MELA-AU 4 41256302 41256302 deletion of <=200bp A - upstream_gene_variant MELA-AU 4 41256420 41256420 single base substitution G A upstream_gene_variant MELA-AU 4 41256586 41256586 single base substitution T A upstream_gene_variant MELA-AU 4 41256587 41256587 deletion of <=200bp A - upstream_gene_variant MELA-AU 4 41256751 41256751 single base substitution T A upstream_gene_variant MELA-AU 4 41256967 41256967 single base substitution C T upstream_gene_variant MELA-AU 4 41256996 41256996 single base substitution G A upstream_gene_variant MELA-AU 4 41257306 41257306 single base substitution C T upstream_gene_variant MELA-AU 4 41257420 41257420 single base substitution C T upstream_gene_variant MELA-AU 4 41257433 41257433 single base substitution C T upstream_gene_variant MELA-AU 4 41257459 41257459 single base substitution C T upstream_gene_variant MELA-AU 4 41257719 41257720 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 4 41257753 41257753 single base substitution C T upstream_gene_variant MELA-AU 4 41258066 41258066 single base substitution C T upstream_gene_variant MELA-AU 4 41258070 41258070 single base substitution C T upstream_gene_variant MELA-AU 4 41258331 41258332 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 41258737 41258737 single base substitution C T 5_prime_UTR_variant MELA-AU 4 41258737 41258737 single base substitution C T upstream_gene_variant MELA-AU 4 41259511 41259511 single base substitution C T exon_variant MELA-AU 4 41259511 41259511 single base substitution C T intron_variant MELA-AU 4 41259511 41259511 single base substitution C T upstream_gene_variant MELA-AU 4 41259846 41259846 single base substitution C T downstream_gene_variant MELA-AU 4 41259846 41259846 single base substitution C T intron_variant MELA-AU 4 41259846 41259846 single base substitution C T upstream_gene_variant MELA-AU 4 41259910 41259910 single base substitution C T downstream_gene_variant MELA-AU 4 41259910 41259910 single base substitution C T intron_variant MELA-AU 4 41259910 41259910 single base substitution C T upstream_gene_variant MELA-AU 4 41260491 41260491 single base substitution G A downstream_gene_variant MELA-AU 4 41260491 41260491 single base substitution G A intron_variant MELA-AU 4 41260491 41260491 single base substitution G A upstream_gene_variant MELA-AU 4 41261359 41261359 single base substitution C T downstream_gene_variant MELA-AU 4 41261359 41261359 single base substitution C T intron_variant MELA-AU 4 41261359 41261359 single base substitution C T upstream_gene_variant MELA-AU 4 41261405 41261405 single base substitution G A downstream_gene_variant MELA-AU 4 41261405 41261405 single base substitution G A intron_variant MELA-AU 4 41261405 41261405 single base substitution G A upstream_gene_variant MELA-AU 4 41261792 41261792 single base substitution C T downstream_gene_variant MELA-AU 4 41261792 41261792 single base substitution C T intron_variant MELA-AU 4 41261792 41261792 single base substitution C T upstream_gene_variant MELA-AU 4 41261855 41261855 single base substitution C T downstream_gene_variant MELA-AU 4 41261855 41261855 single base substitution C T intron_variant MELA-AU 4 41261855 41261855 single base substitution C T upstream_gene_variant MELA-AU 4 41261883 41261883 single base substitution T A downstream_gene_variant MELA-AU 4 41261883 41261883 single base substitution T A intron_variant MELA-AU 4 41261883 41261883 single base substitution T A upstream_gene_variant MELA-AU 4 41261967 41261967 single base substitution C T downstream_gene_variant MELA-AU 4 41261967 41261967 single base substitution C T intron_variant MELA-AU 4 41261967 41261967 single base substitution C T upstream_gene_variant MELA-AU 4 41261980 41261980 single base substitution C T downstream_gene_variant MELA-AU 4 41261980 41261980 single base substitution C T intron_variant MELA-AU 4 41261980 41261980 single base substitution C T upstream_gene_variant MELA-AU 4 41262678 41262678 single base substitution G A downstream_gene_variant MELA-AU 4 41262678 41262678 single base substitution G A exon_variant MELA-AU 4 41262678 41262678 single base substitution G A synonymous_variant R63R 189G>A MELA-AU 4 41262678 41262678 single base substitution G A upstream_gene_variant MELA-AU 4 41263210 41263210 single base substitution C T downstream_gene_variant MELA-AU 4 41263210 41263210 single base substitution C T intron_variant MELA-AU 4 41263210 41263210 single base substitution C T upstream_gene_variant MELA-AU 4 41263579 41263579 single base substitution G A downstream_gene_variant MELA-AU 4 41263579 41263579 single base substitution G A intron_variant MELA-AU 4 41263579 41263579 single base substitution G A upstream_gene_variant MELA-AU 4 41263586 41263586 single base substitution G A downstream_gene_variant MELA-AU 4 41263586 41263586 single base substitution G A intron_variant MELA-AU 4 41263586 41263586 single base substitution G A upstream_gene_variant MELA-AU 4 41264432 41264432 single base substitution C T downstream_gene_variant MELA-AU 4 41264432 41264432 single base substitution C T intron_variant MELA-AU 4 41264673 41264673 single base substitution C T downstream_gene_variant MELA-AU 4 41264673 41264673 single base substitution C T intron_variant MELA-AU 4 41264680 41264680 single base substitution C T downstream_gene_variant MELA-AU 4 41264680 41264680 single base substitution C T intron_variant MELA-AU 4 41264685 41264685 single base substitution C T downstream_gene_variant MELA-AU 4 41264685 41264685 single base substitution C T intron_variant MELA-AU 4 41264821 41264821 single base substitution C T downstream_gene_variant MELA-AU 4 41264821 41264821 single base substitution C T intron_variant MELA-AU 4 41265235 41265235 single base substitution T G downstream_gene_variant MELA-AU 4 41265235 41265235 single base substitution T G intron_variant MELA-AU 4 41265235 41265235 single base substitution T G splice_region_variant MELA-AU 4 41265263 41265263 single base substitution C T 3_prime_UTR_variant MELA-AU 4 41265263 41265263 single base substitution C T downstream_gene_variant MELA-AU 4 41265263 41265263 single base substitution C T exon_variant MELA-AU 4 41265263 41265263 single base substitution C T missense_variant H145Y 433C>T MELA-AU 4 41265263 41265263 single base substitution C T missense_variant H161Y 481C>T MELA-AU 4 41265354 41265355 multiple base substitution (>=2bp and <=200bp) CT TG downstream_gene_variant MELA-AU 4 41265354 41265355 multiple base substitution (>=2bp and <=200bp) CT TG intron_variant MELA-AU 4 41265409 41265409 single base substitution C T downstream_gene_variant MELA-AU 4 41265409 41265409 single base substitution C T intron_variant MELA-AU 4 41265483 41265483 single base substitution C T downstream_gene_variant MELA-AU 4 41265483 41265483 single base substitution C T intron_variant MELA-AU 4 41265701 41265701 single base substitution C T downstream_gene_variant MELA-AU 4 41265701 41265701 single base substitution C T intron_variant MELA-AU 4 41265799 41265799 single base substitution C T downstream_gene_variant MELA-AU 4 41265799 41265799 single base substitution C T intron_variant MELA-AU 4 41265803 41265803 single base substitution C T downstream_gene_variant MELA-AU 4 41265803 41265803 single base substitution C T intron_variant MELA-AU 4 41266617 41266617 single base substitution C T downstream_gene_variant MELA-AU 4 41266617 41266617 single base substitution C T intron_variant MELA-AU 4 41266636 41266636 single base substitution T C downstream_gene_variant MELA-AU 4 41266636 41266636 single base substitution T C intron_variant MELA-AU 4 41267014 41267014 single base substitution G A downstream_gene_variant MELA-AU 4 41267014 41267014 single base substitution G A intron_variant MELA-AU 4 41267469 41267469 single base substitution C T downstream_gene_variant MELA-AU 4 41267469 41267469 single base substitution C T intron_variant MELA-AU 4 41267571 41267571 single base substitution G A downstream_gene_variant MELA-AU 4 41267571 41267571 single base substitution G A intron_variant MELA-AU 4 41267968 41267968 single base substitution G A downstream_gene_variant MELA-AU 4 41267968 41267968 single base substitution G A intron_variant MELA-AU 4 41268101 41268101 single base substitution A G downstream_gene_variant MELA-AU 4 41268101 41268101 single base substitution A G intron_variant MELA-AU 4 41268183 41268183 single base substitution C T downstream_gene_variant MELA-AU 4 41268183 41268183 single base substitution C T intron_variant MELA-AU 4 41268566 41268566 single base substitution G A downstream_gene_variant MELA-AU 4 41268566 41268566 single base substitution G A intron_variant MELA-AU 4 41268639 41268639 single base substitution C T downstream_gene_variant MELA-AU 4 41268639 41268639 single base substitution C T intron_variant MELA-AU 4 41268809 41268809 single base substitution A G downstream_gene_variant MELA-AU 4 41268809 41268809 single base substitution A G intron_variant MELA-AU 4 41268899 41268899 single base substitution A T downstream_gene_variant MELA-AU 4 41268899 41268899 single base substitution A T intron_variant MELA-AU 4 41269040 41269040 single base substitution C T downstream_gene_variant MELA-AU 4 41269040 41269040 single base substitution C T intron_variant MELA-AU 4 41269057 41269057 single base substitution G A downstream_gene_variant MELA-AU 4 41269057 41269057 single base substitution G A intron_variant MELA-AU 4 41269098 41269098 single base substitution C T downstream_gene_variant MELA-AU 4 41269098 41269098 single base substitution C T intron_variant MELA-AU 4 41269470 41269470 single base substitution G A downstream_gene_variant MELA-AU 4 41269470 41269470 single base substitution G A intron_variant MELA-AU 4 41269675 41269675 single base substitution C T downstream_gene_variant MELA-AU 4 41269675 41269675 single base substitution C T intron_variant MELA-AU 4 41269818 41269818 single base substitution C T downstream_gene_variant MELA-AU 4 41269818 41269818 single base substitution C T intron_variant MELA-AU 4 41269822 41269822 single base substitution G A downstream_gene_variant MELA-AU 4 41269822 41269822 single base substitution G A intron_variant MELA-AU 4 41269839 41269839 single base substitution C T downstream_gene_variant MELA-AU 4 41269839 41269839 single base substitution C T intron_variant MELA-AU 4 41269941 41269941 single base substitution C T downstream_gene_variant MELA-AU 4 41269941 41269941 single base substitution C T intron_variant MELA-AU 4 41269955 41269955 single base substitution C T downstream_gene_variant MELA-AU 4 41269955 41269955 single base substitution C T intron_variant MELA-AU 4 41270128 41270128 single base substitution C T 3_prime_UTR_variant MELA-AU 4 41270128 41270128 single base substitution C T downstream_gene_variant MELA-AU 4 41270128 41270128 single base substitution C T exon_variant MELA-AU 4 41270211 41270211 single base substitution G A 3_prime_UTR_variant MELA-AU 4 41270211 41270211 single base substitution G A downstream_gene_variant MELA-AU 4 41270211 41270211 single base substitution G A exon_variant MELA-AU 4 41270780 41270780 single base substitution C T downstream_gene_variant MELA-AU 4 41270899 41270899 single base substitution G A downstream_gene_variant MELA-AU 4 41271427 41271427 single base substitution C T downstream_gene_variant MELA-AU 4 41271631 41271631 single base substitution C T downstream_gene_variant MELA-AU 4 41271686 41271686 single base substitution C T downstream_gene_variant MELA-AU 4 41271703 41271703 single base substitution G A downstream_gene_variant MELA-AU 4 41271720 41271720 single base substitution C T downstream_gene_variant MELA-AU 4 41271755 41271755 single base substitution C T downstream_gene_variant MELA-AU 4 41271787 41271788 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 41272174 41272174 single base substitution G T downstream_gene_variant MELA-AU 4 41272290 41272290 single base substitution G A downstream_gene_variant MELA-AU 4 41272374 41272374 single base substitution T A downstream_gene_variant MELA-AU 4 41272388 41272388 single base substitution G A downstream_gene_variant MELA-AU 4 41273712 41273712 single base substitution C T downstream_gene_variant MELA-AU 4 41273948 41273948 single base substitution G A downstream_gene_variant MELA-AU 4 41274041 41274041 single base substitution G A downstream_gene_variant MELA-AU 4 41274081 41274081 single base substitution G A downstream_gene_variant MELA-AU 4 41274863 41274863 single base substitution G A downstream_gene_variant MELA-AU 4 41275099 41275099 single base substitution G A downstream_gene_variant MELA-AU 4 41275270 41275270 single base substitution C T downstream_gene_variant MELA-AU 4 41275433 41275433 single base substitution C T downstream_gene_variant MELA-AU 4 41275434 41275434 single base substitution C T downstream_gene_variant ORCA-IN 4 41254386 41254386 single base substitution C G upstream_gene_variant OV-AU 4 41258757 41258757 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant OV-AU 4 41258757 41258757 single base substitution C G upstream_gene_variant OV-AU 4 41259067 41259067 single base substitution G T intron_variant OV-AU 4 41259067 41259067 single base substitution G T upstream_gene_variant OV-AU 4 41269045 41269045 single base substitution G A downstream_gene_variant OV-AU 4 41269045 41269045 single base substitution G A intron_variant PACA-AU 4 41264683 41264683 single base substitution T C downstream_gene_variant PACA-AU 4 41264683 41264683 single base substitution T C intron_variant PACA-AU 4 41266125 41266125 single base substitution C T 3_prime_UTR_variant PACA-AU 4 41266125 41266125 single base substitution C T downstream_gene_variant PACA-AU 4 41266125 41266125 single base substitution C T exon_variant PACA-AU 4 41266125 41266125 single base substitution C T stop_gained R162* 484C>T PACA-AU 4 41266125 41266125 single base substitution C T stop_gained R178* 532C>T PACA-AU 4 41267997 41267997 single base substitution A T downstream_gene_variant PACA-AU 4 41267997 41267997 single base substitution A T intron_variant PACA-AU 4 41270149 41270149 deletion of <=200bp C - 3_prime_UTR_variant PACA-AU 4 41270149 41270149 deletion of <=200bp C - downstream_gene_variant PACA-AU 4 41270149 41270149 deletion of <=200bp C - exon_variant PACA-AU 4 41273926 41273926 single base substitution G A downstream_gene_variant PACA-CA 4 41255411 41255411 single base substitution T C upstream_gene_variant PACA-CA 4 41260516 41260516 deletion of <=200bp C - downstream_gene_variant PACA-CA 4 41260516 41260516 deletion of <=200bp C - intron_variant PACA-CA 4 41260516 41260516 deletion of <=200bp C - upstream_gene_variant PACA-CA 4 41262167 41262167 single base substitution G A downstream_gene_variant PACA-CA 4 41262167 41262167 single base substitution G A intron_variant PACA-CA 4 41262167 41262167 single base substitution G A upstream_gene_variant PACA-CA 4 41264475 41264475 single base substitution T A downstream_gene_variant PACA-CA 4 41264475 41264475 single base substitution T A intron_variant PACA-CA 4 41269543 41269543 single base substitution G A downstream_gene_variant PACA-CA 4 41269543 41269543 single base substitution G A intron_variant PACA-CA 4 41269753 41269753 single base substitution T G downstream_gene_variant PACA-CA 4 41269753 41269753 single base substitution T G intron_variant PACA-CA 4 41272028 41272028 insertion of <=200bp - TA downstream_gene_variant PACA-CA 4 41272028 41272028 single base substitution T A downstream_gene_variant PAEN-IT 4 41259864 41259864 single base substitution C A downstream_gene_variant PAEN-IT 4 41259864 41259864 single base substitution C A intron_variant PAEN-IT 4 41259864 41259864 single base substitution C A upstream_gene_variant PAEN-IT 4 41267322 41267322 single base substitution G A downstream_gene_variant PAEN-IT 4 41267322 41267322 single base substitution G A intron_variant PBCA-DE 4 41258969 41258969 single base substitution T C 5_prime_UTR_variant PBCA-DE 4 41258969 41258969 single base substitution T C exon_variant PBCA-DE 4 41258969 41258969 single base substitution T C splice_region_variant PBCA-DE 4 41258969 41258969 single base substitution T C upstream_gene_variant PBCA-DE 4 41268594 41268594 insertion of <=200bp - A downstream_gene_variant PBCA-DE 4 41268594 41268594 insertion of <=200bp - A intron_variant PBCA-DE 4 41272018 41272018 insertion of <=200bp - T downstream_gene_variant PRAD-CA 4 41257045 41257045 single base substitution C T upstream_gene_variant PRAD-CA 4 41270451 41270451 single base substitution C T 3_prime_UTR_variant PRAD-CA 4 41270451 41270451 single base substitution C T downstream_gene_variant PRAD-CA 4 41270478 41270478 single base substitution C G downstream_gene_variant PRAD-UK 4 41254849 41254849 single base substitution A C upstream_gene_variant PRAD-UK 4 41255086 41255086 single base substitution T A upstream_gene_variant READ-US 4 41265248 41265248 single base substitution G T 3_prime_UTR_variant READ-US 4 41265248 41265248 single base substitution G T downstream_gene_variant READ-US 4 41265248 41265248 single base substitution G T exon_variant READ-US 4 41265248 41265248 single base substitution G T missense_variant D140Y 418G>T READ-US 4 41265248 41265248 single base substitution G T missense_variant D156Y 466G>T READ-US 4 41265248 41265248 single base substitution G T splice_region_variant RECA-EU 4 41258364 41258364 single base substitution A G upstream_gene_variant RECA-EU 4 41258958 41258958 single base substitution C T 5_prime_UTR_variant RECA-EU 4 41258958 41258958 single base substitution C T exon_variant RECA-EU 4 41258958 41258958 single base substitution C T intron_variant RECA-EU 4 41258958 41258958 single base substitution C T upstream_gene_variant RECA-EU 4 41267066 41267066 single base substitution A G downstream_gene_variant RECA-EU 4 41267066 41267066 single base substitution A G intron_variant RECA-EU 4 41270394 41270394 single base substitution G A 3_prime_UTR_variant RECA-EU 4 41270394 41270394 single base substitution G A downstream_gene_variant RECA-EU 4 41270394 41270394 single base substitution G A exon_variant RECA-EU 4 41270681 41270681 single base substitution G C downstream_gene_variant RECA-EU 4 41273906 41273906 single base substitution T G downstream_gene_variant SKCA-BR 4 41253903 41253903 single base substitution C T upstream_gene_variant SKCA-BR 4 41255119 41255119 single base substitution C G upstream_gene_variant SKCA-BR 4 41255875 41255875 single base substitution G A upstream_gene_variant SKCA-BR 4 41256530 41256530 single base substitution C T upstream_gene_variant SKCA-BR 4 41256817 41256817 single base substitution G A upstream_gene_variant SKCA-BR 4 41259897 41259897 single base substitution C T downstream_gene_variant SKCA-BR 4 41259897 41259897 single base substitution C T intron_variant SKCA-BR 4 41259897 41259897 single base substitution C T upstream_gene_variant SKCA-BR 4 41262744 41262744 single base substitution C T 3_prime_UTR_variant SKCA-BR 4 41262744 41262744 single base substitution C T downstream_gene_variant SKCA-BR 4 41262744 41262744 single base substitution C T exon_variant SKCA-BR 4 41262744 41262744 single base substitution C T synonymous_variant T85T 255C>T SKCA-BR 4 41262744 41262744 single base substitution C T upstream_gene_variant SKCA-BR 4 41262796 41262796 single base substitution C T 3_prime_UTR_variant SKCA-BR 4 41262796 41262796 single base substitution C T downstream_gene_variant SKCA-BR 4 41262796 41262796 single base substitution C T exon_variant SKCA-BR 4 41262796 41262796 single base substitution C T stop_gained Q103* 307C>T SKCA-BR 4 41262796 41262796 single base substitution C T upstream_gene_variant SKCA-BR 4 41263124 41263124 single base substitution A C downstream_gene_variant SKCA-BR 4 41263124 41263124 single base substitution A C intron_variant SKCA-BR 4 41263124 41263124 single base substitution A C upstream_gene_variant SKCA-BR 4 41263528 41263528 single base substitution G A downstream_gene_variant SKCA-BR 4 41263528 41263528 single base substitution G A intron_variant SKCA-BR 4 41263528 41263528 single base substitution G A upstream_gene_variant SKCA-BR 4 41263782 41263782 single base substitution C T 3_prime_UTR_variant SKCA-BR 4 41263782 41263782 single base substitution C T downstream_gene_variant SKCA-BR 4 41263782 41263782 single base substitution C T exon_variant SKCA-BR 4 41263782 41263782 single base substitution C T missense_variant P126S 376C>T SKCA-BR 4 41264015 41264015 single base substitution C T downstream_gene_variant SKCA-BR 4 41264015 41264015 single base substitution C T intron_variant SKCA-BR 4 41264105 41264105 single base substitution A T downstream_gene_variant SKCA-BR 4 41264105 41264105 single base substitution A T intron_variant SKCA-BR 4 41264224 41264224 single base substitution A G downstream_gene_variant SKCA-BR 4 41264224 41264224 single base substitution A G intron_variant SKCA-BR 4 41264508 41264508 single base substitution T A downstream_gene_variant SKCA-BR 4 41264508 41264508 single base substitution T A intron_variant SKCA-BR 4 41265102 41265102 single base substitution G A downstream_gene_variant SKCA-BR 4 41265102 41265102 single base substitution G A intron_variant SKCA-BR 4 41266295 41266295 single base substitution C T downstream_gene_variant SKCA-BR 4 41266295 41266295 single base substitution C T exon_variant SKCA-BR 4 41266295 41266295 single base substitution C T intron_variant SKCA-BR 4 41268244 41268244 single base substitution T G downstream_gene_variant SKCA-BR 4 41268244 41268244 single base substitution T G intron_variant SKCA-BR 4 41271853 41271853 single base substitution C T downstream_gene_variant SKCA-BR 4 41272600 41272600 single base substitution A C downstream_gene_variant SKCA-BR 4 41274175 41274175 single base substitution G A downstream_gene_variant SKCA-BR 4 41274276 41274276 single base substitution G A downstream_gene_variant SKCA-BR 4 41274417 41274417 single base substitution C T downstream_gene_variant SKCA-BR 4 41274786 41274786 single base substitution G A downstream_gene_variant SKCA-BR 4 41275359 41275359 single base substitution A G downstream_gene_variant SKCM-US 4 41262675 41262675 single base substitution C T downstream_gene_variant SKCM-US 4 41262675 41262675 single base substitution C T exon_variant SKCM-US 4 41262675 41262675 single base substitution C T synonymous_variant F62F 186C>T SKCM-US 4 41262675 41262675 single base substitution C T upstream_gene_variant SKCM-US 4 41262709 41262709 single base substitution G A 3_prime_UTR_variant SKCM-US 4 41262709 41262709 single base substitution G A downstream_gene_variant SKCM-US 4 41262709 41262709 single base substitution G A exon_variant SKCM-US 4 41262709 41262709 single base substitution G A missense_variant E74K 220G>A SKCM-US 4 41262709 41262709 single base substitution G A upstream_gene_variant SKCM-US 4 41262768 41262768 single base substitution C T 3_prime_UTR_variant SKCM-US 4 41262768 41262768 single base substitution C T downstream_gene_variant SKCM-US 4 41262768 41262768 single base substitution C T exon_variant SKCM-US 4 41262768 41262768 single base substitution C T synonymous_variant I93I 279C>T SKCM-US 4 41262768 41262768 single base substitution C T upstream_gene_variant SKCM-US 4 41263915 41263915 single base substitution C T 3_prime_UTR_variant SKCM-US 4 41263915 41263915 single base substitution C T downstream_gene_variant SKCM-US 4 41263915 41263915 single base substitution C T exon_variant SKCM-US 4 41263915 41263915 single base substitution C T intron_variant SKCM-US 4 41263915 41263915 single base substitution C T missense_variant A145V 434C>T SKCM-US 4 41265263 41265263 single base substitution C T 3_prime_UTR_variant SKCM-US 4 41265263 41265263 single base substitution C T downstream_gene_variant SKCM-US 4 41265263 41265263 single base substitution C T exon_variant SKCM-US 4 41265263 41265263 single base substitution C T missense_variant H145Y 433C>T SKCM-US 4 41265263 41265263 single base substitution C T missense_variant H161Y 481C>T SKCM-US 4 41266174 41266174 single base substitution T C 3_prime_UTR_variant SKCM-US 4 41266174 41266174 single base substitution T C downstream_gene_variant SKCM-US 4 41266174 41266174 single base substitution T C exon_variant SKCM-US 4 41266174 41266174 single base substitution T C missense_variant L178P 533T>C SKCM-US 4 41266174 41266174 single base substitution T C missense_variant L194P 581T>C STAD-US 4 41266152 41266152 single base substitution G A 3_prime_UTR_variant STAD-US 4 41266152 41266152 single base substitution G A downstream_gene_variant STAD-US 4 41266152 41266152 single base substitution G A exon_variant STAD-US 4 41266152 41266152 single base substitution G A missense_variant A171T 511G>A STAD-US 4 41266152 41266152 single base substitution G A missense_variant A187T 559G>A UCEC-US 4 41263939 41263939 single base substitution G A downstream_gene_variant UCEC-US 4 41263939 41263939 single base substitution G A exon_variant UCEC-US 4 41263939 41263939 single base substitution G A intron_variant UCEC-US 4 41263939 41263939 single base substitution G A missense_variant R153Q 458G>A UCEC-US 4 41263939 41263939 single base substitution G A splice_region_variant UCEC-US 4 41266144 41266144 single base substitution A G 3_prime_UTR_variant UCEC-US 4 41266144 41266144 single base substitution A G downstream_gene_variant UCEC-US 4 41266144 41266144 single base substitution A G exon_variant UCEC-US 4 41266144 41266144 single base substitution A G missense_variant N168S 503A>G UCEC-US 4 41266144 41266144 single base substitution A G missense_variant N184S 551A>G UCEC-US 4 41270025 41270025 single base substitution G T 3_prime_UTR_variant UCEC-US 4 41270025 41270025 single base substitution G T downstream_gene_variant UCEC-US 4 41270025 41270025 single base substitution G T exon_variant UCEC-US 4 41270025 41270025 single base substitution G T missense_variant E212D 636G>T UCEC-US 4 41270025 41270025 single base substitution G T stop_gained E187* 559G>T UCEC-US 4 41270025 41270025 single base substitution G T stop_gained E203* 607G>T UCEC-US 4 41270034 41270034 single base substitution G T 3_prime_UTR_variant UCEC-US 4 41270034 41270034 single base substitution G T downstream_gene_variant UCEC-US 4 41270034 41270034 single base substitution G T exon_variant UCEC-US 4 41270034 41270034 single base substitution G T stop_gained E190* 568G>T UCEC-US 4 41270034 41270034 single base substitution G T stop_gained E206* 616G>T UCEC-US 4 41270034 41270034 single base substitution G T synonymous_variant P215P 645G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand I2L-P24Ta-Tumor-Organoid COSM5356050 c.370A>C p.M124L Substitution - Missense 4:41261759-41261759 + TCGA-D5-6930-01 COSM1429708 c.546G>A p.P182P Substitution - coding silent 4:41264122-41264122 + PT37 COSM3696648 c.457C>T p.R153W Substitution - Missense 4:41261921-41261921 + HCC2998 COSM1055380 c.607G>T p.E203* Substitution - Nonsense 4:41268008-41268008 + RK056_C01 COSM1633684 c.404_405delAG p.N136fs*1 Deletion - Frameshift 4:41261793-41261794 + SW403 COSM4332740 c.299C>A p.A100D Substitution - Missense 4:41260771-41260771 + ESCC_1 COSM4124703 c.559G>A p.A187T Substitution - Missense 4:41264135-41264135 + I2L-P24Ta-Tumor-Biopsy COSM5356050 c.370A>C p.M124L Substitution - Missense 4:41261759-41261759 + PTC-70C COSM4159070 c.53C>A p.S18Y Substitution - Missense 4:41257616-41257616 + PTC-7C COSM4159070 c.53C>A p.S18Y Substitution - Missense 4:41257616-41257616 + TCGA-FD-A3SL-01 COSM3775844 c.14C>G p.P5R Substitution - Missense 4:41256990-41256990 + 2293782 COSM4609069 c.537G>T p.M179I Substitution - Missense 4:41264113-41264113 + CSCC-31-T COSM4548886 c.459G>A p.R153R Substitution - coding silent 4:41261923-41261923 + TCGA-AA-3980-01 COSM297787 c.435C>T p.A145A Substitution - coding silent 4:41261899-41261899 + DLD1 COSM4625295 c.127C>T p.P43S Substitution - Missense 4:41257690-41257690 + TCGA-BR-4184-01 COSM4124703 c.559G>A p.A187T Substitution - Missense 4:41264135-41264135 + TCGA-EE-A2MI-06 COSM230547 c.481C>T p.H161Y Substitution - Missense 4:41263246-41263246 + PTC-10C COSM4159070 c.53C>A p.S18Y Substitution - Missense 4:41257616-41257616 + HCC107 COSM1618817 c.33+6C>T p.? Unknown 4:41257015-41257015 + TCGA-EE-A29N-06 COSM230547 c.481C>T p.H161Y Substitution - Missense 4:41263246-41263246 + TCGA-FW-A3R5-06 COSM3917777 c.434C>T p.A145V Substitution - Missense 4:41261898-41261898 + TCGA-BF-A3DL-01 COSM4904476 c.220G>A p.E74K Substitution - Missense 4:41260692-41260692 + TCGA-AP-A05J-01 COSM1055381 c.616G>T p.E206* Substitution - Nonsense 4:41268017-41268017 + Br27P COSM40738 c.298G>A p.A100T Substitution - Missense 4:41260770-41260770 + TCGA-EI-6917-01 COSM3428503 c.466G>T p.D156Y Substitution - Missense 4:41263231-41263231 + B35-Tumor COSM1753727 c.15G>A p.P5P Substitution - coding silent 4:41256991-41256991 + TCGA-EE-A3AA-06 COSM230547 c.481C>T p.H161Y Substitution - Missense 4:41263246-41263246 + TCGA-AC-A23H-01 COSM3825850 c.577C>T p.L193L Substitution - coding silent 4:41264153-41264153 + TCGA-BS-A0UF-01 COSM1055380 c.607G>T p.E203* Substitution - Nonsense 4:41268008-41268008 + I2L-P24Tb-Tumor-Biopsy COSM5356050 c.370A>C p.M124L Substitution - Missense 4:41261759-41261759 + HCC107T COSM1618817 c.33+6C>T p.? Unknown 4:41257015-41257015 + TCGA-D9-A6EC-06 COSM4400519 c.581T>C p.L194P Substitution - Missense 4:41264157-41264157 + TCGA-FS-A1ZW-06 COSM3603776 c.279C>T p.I93I Substitution - coding silent 4:41260751-41260751 + RMS106_ COSM4159070 c.53C>A p.S18Y Substitution - Missense 4:41257616-41257616 + HCC058T COSM5805487 c.601T>A p.C201S Substitution - Missense 4:41268002-41268002 + 145 COSM3735259 c.485T>C p.F162S Substitution - Missense 4:41263250-41263250 + T578 COSM4739000 c.352C>A p.L118I Substitution - Missense 4:41261741-41261741 + TCGA-D1-A174-01 COSM1055379 c.551A>G p.N184S Substitution - Missense 4:41264127-41264127 + TCGA-FU-A3HZ-01 COSM4839209 c.181A>C p.N61H Substitution - Missense 4:41260653-41260653 + TCGA-GV-A3QK-01 COSM3775845 c.340C>T p.L114L Substitution - coding silent 4:41261729-41261729 + SWE-2A COSM1178195 c.526G>A p.D176N Substitution - Missense 4:41263291-41263291 + Pat_24_B COSM5866397 c.289C>T p.H97Y Substitution - Missense 4:41260761-41260761 + SCMC_RM2_ COSM4159070 c.53C>A p.S18Y Substitution - Missense 4:41257616-41257616 + TCGA-AC-A23H-01 COSM3825849 c.243C>T p.F81F Substitution - coding silent 4:41260715-41260715 + CA2 COSM1055378 c.458G>A p.R153Q Substitution - Missense 4:41261922-41261922 + ME050T COSM230547 c.481C>T p.H161Y Substitution - Missense 4:41263246-41263246 + T2269 COSM4124703 c.559G>A p.A187T Substitution - Missense 4:41264135-41264135 + TCGA-EE-A2MR-06 COSM3603776 c.279C>T p.I93I Substitution - coding silent 4:41260751-41260751 + HCT15 COSM4625295 c.127C>T p.P43S Substitution - Missense 4:41257690-41257690 + HCC2998 COSM1055380 c.607G>T p.E203* Substitution - Nonsense 4:41268008-41268008 + LP6007594 COSM4410097 c.616G>A p.E206K Substitution - Missense 4:41268017-41268017 + TCGA-CA-6718-01 COSM3696648 c.457C>T p.R153W Substitution - Missense 4:41261921-41261921 + I2L-P24Tb-Tumor-Organoid COSM5356050 c.370A>C p.M124L Substitution - Missense 4:41261759-41261759 + B35 COSM1753727 c.15G>A p.P5P Substitution - coding silent 4:41256991-41256991 + 12T COSM108758 c.480C>T p.F160F Substitution - coding silent 4:41263245-41263245 + TCGA-EE-A2MR-06 COSM3603775 c.186C>T p.F62F Substitution - coding silent 4:41260658-41260658 + Pat_24_A COSM5866397 c.289C>T p.H97Y Substitution - Missense 4:41260761-41260761 + TCGA-ED-A7PZ-01 COSM4916868 c.562A>T p.S188C Substitution - Missense 4:41264138-41264138 + sysucc-966T COSM4159070 c.53C>A p.S18Y Substitution - Missense 4:41257616-41257616 + 8016470 COSM3392864 c.532C>T p.R178* Substitution - Nonsense 4:41264108-41264108 + HCT8 COSM4625295 c.127C>T p.P43S Substitution - Missense 4:41257690-41257690 + TCGA-A5-A0VP-01 COSM1055378 c.458G>A p.R153Q Substitution - Missense 4:41261922-41261922 + T3152 COSM4738999 c.144G>A p.A48A Substitution - coding silent 4:41257707-41257707 + KPOPBR-03-T COSM5964817 c.325+3A>G p.? Unknown 4:41260800-41260800 + PTC-515C COSM4159070 c.53C>A p.S18Y Substitution - Missense 4:41257616-41257616 + DLD1 COSM4625296 c.552C>A p.N184K Substitution - Missense 4:41264128-41264128 + RMS111_ COSM4159070 c.53C>A p.S18Y Substitution - Missense 4:41257616-41257616 + PD8628a COSM3720276 c.436G>A p.V146M Substitution - Missense 4:41261900-41261900 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.518731 4p14 191342 2479826|CGAP|BC000332|A/G|non-coding||41|Validated; 2479826|CGAP|BC006305|A/G|non-coding||12|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AG - Frameshift p.K135Efs*2 c.403_404delAA 4 41263809 HC A G Missense p.N184S c.551A>G 4 41266144 UCEC A G Synonymous p.G111G c.333A>G 4 41263739 LUAD C A Missense p.D196E c.588C>A 4 41270006 LUAD C T IntronicSNV . c.585+98C>T 4 41266276 CM C T Missense p.H161Y c.481C>T 4 41265263 CM C T Synonymous p.A145A c.435C>T 4 41263916 COREAD C T Synonymous p.I93I c.279C>T 4 41262768 CM C T Synonymous p.L172L c.516C>T 4 41265298 HNSC G A Missense p.A100T c.298G>A 4 41262787 GBM G A Missense p.E74K c.220G>A 4 41262709 CM G A Missense p.G111E c.332G>A 4 41263738 CM G A Missense p.R153Q c.458G>A 4 41263939 UCEC GCC - IntronicDeletion . c.174+13_174+15delGCC 4 41259767 ESCA G T 5-UTRSNV . c.1-15G>T 4 41258979 CM G T Nonsense p.E206* c.616G>T 4 41270034 UCEC