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 154636767 154636767 + Silent SNP G G A TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr4:154636767G>A c.678C>T c.(676-678)atC>atT p.I226I BLCA 4 154669807 154669807 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr4:154669807C>G c.236G>C c.(235-237)cGa>cCa p.R79P BLCA 4 154669824 154669824 + Nonsense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr4:154669824C>T c.219G>A c.(217-219)tgG>tgA p.W73* COAD 4 154633684 154633684 + Frame_Shift_Del DEL T T - TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr4:154633684delT c.809delA c.(808-810)aagfs p.K270fs COAD 4 154633695 154633695 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:154633695G>A c.798C>T c.(796-798)atC>atT p.I266I COAD 4 154636777 154636777 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr4:154636777G>A c.668C>T c.(667-669)tCg>tTg p.S223L COAD 4 154649420 154649420 + Missense_Mutation SNP C C T TCGA-AA-A02H-01A-01W-A00E-09 TCGA-AA-A02H-10A-01W-A00E-09 g.chr4:154649420C>T c.340G>A c.(340-342)Gtt>Att p.V114I COAD 4 154649422 154649422 + Missense_Mutation SNP G G T TCGA-AA-A00O-01A-02W-A00E-09 TCGA-AA-A00O-10A-01W-A00E-09 g.chr4:154649422G>T c.338C>A c.(337-339)tCc>tAc p.S113Y COADREAD 4 154633684 154633684 + Frame_Shift_Del DEL T T - TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr4:154633684delT c.809delA c.(808-810)aagfs p.K270fs COADREAD 4 154633695 154633695 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:154633695G>A c.798C>T c.(796-798)atC>atT p.I266I COADREAD 4 154636703 154636703 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:154636703A>C c.742T>G c.(742-744)Tac>Gac p.Y248D COADREAD 4 154636777 154636777 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr4:154636777G>A c.668C>T c.(667-669)tCg>tTg p.S223L COADREAD 4 154649420 154649420 + Missense_Mutation SNP C C T TCGA-AA-A02H-01A-01W-A00E-09 TCGA-AA-A02H-10A-01W-A00E-09 g.chr4:154649420C>T c.340G>A c.(340-342)Gtt>Att p.V114I COADREAD 4 154649422 154649422 + Missense_Mutation SNP G G T TCGA-AA-A00O-01A-02W-A00E-09 TCGA-AA-A00O-10A-01W-A00E-09 g.chr4:154649422G>T c.338C>A c.(337-339)tCc>tAc p.S113Y ESCA 4 154631573 154631573 + Missense_Mutation SNP G G T TCGA-LN-A7HX-01A-11D-A33E-09 TCGA-LN-A7HX-10A-01D-A33H-09 g.chr4:154631573G>T c.935C>A c.(934-936)cCt>cAt p.P312H ESCA 4 154669910 154669910 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr4:154669910G>A c.133C>T c.(133-135)Cac>Tac p.H45Y GBMLGG 4 154636798 154636798 + Missense_Mutation SNP C C T TCGA-HT-8110-01A-11D-2395-08 TCGA-HT-8110-10A-01D-2396-08 g.chr4:154636798C>T c.647G>A c.(646-648)cGg>cAg p.R216Q GBMLGG 4 154649450 154649450 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:154649450G>A c.310C>T c.(310-312)Cgg>Tgg p.R104W HNSC 4 154641439 154641439 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr4:154641439G>A c.527C>T c.(526-528)tCc>tTc p.S176F HNSC 4 154649396 154649396 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 g.chr4:154649396T>C c.364A>G c.(364-366)Aga>Gga p.R122G HNSC 4 154649432 154649432 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 g.chr4:154649432C>T c.328G>A c.(328-330)Ggg>Agg p.G110R LGG 4 154636798 154636798 + Missense_Mutation SNP C C T TCGA-HT-8110-01A-11D-2395-08 TCGA-HT-8110-10A-01D-2396-08 g.chr4:154636798C>T c.647G>A c.(646-648)cGg>cAg p.R216Q LGG 4 154649450 154649450 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:154649450G>A c.310C>T c.(310-312)Cgg>Tgg p.R104W LIHC 4 154649420 154649420 + Missense_Mutation SNP C C T TCGA-DD-A3A7-01A-11D-A22F-10 TCGA-DD-A3A7-11A-11D-A22F-10 g.chr4:154649420C>T c.340G>A c.(340-342)Gtt>Att p.V114I LUAD 4 154644586 154644586 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr4:154644586C>G c.426G>C c.(424-426)ttG>ttC p.L142F LUAD 4 154649432 154649432 + Missense_Mutation SNP C C G TCGA-17-Z053-01A-01W-0747-08 TCGA-17-Z053-11A-01W-0747-08 g.chr4:154649432C>G c.328G>C c.(328-330)Ggg>Cgg p.G110R LUAD 4 154669893 154669893 + Silent SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr4:154669893G>T c.150C>A c.(148-150)tcC>tcA p.S50S OV 4 154636783 154636783 + Missense_Mutation SNP C C T TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 g.chr4:154636783C>T c.662G>A c.(661-663)aGc>aAc p.S221N READ 4 154636703 154636703 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:154636703A>C c.742T>G c.(742-744)Tac>Gac p.Y248D SKCM 4 154631608 154631608 + Silent SNP G G A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 g.chr4:154631608G>A c.900C>T c.(898-900)atC>atT p.I300I SKCM 4 154633721 154633721 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:154633721C>T c.772G>A c.(772-774)Gaa>Aaa p.E258K SKCM 4 154649358 154649358 + Splice_Site SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr4:154649358C>T c.e4+1 SKCM 4 154649372 154649372 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr4:154649372C>T c.388G>A c.(388-390)Gga>Aga p.G130R SKCM 4 154649400 154649400 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 g.chr4:154649400G>A c.360C>T c.(358-360)ctC>ctT p.L120L SKCM 4 154649452 154649452 + Nonsense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr4:154649452C>T c.308G>A c.(307-309)tGg>tAg p.W103* SKCM 4 154649461 154649461 + Frame_Shift_Del DEL A A - TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr4:154649461delA c.299delT c.(298-300)ttafs p.L100fs SKCM 4 154649469 154649469 + Silent SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr4:154649469C>T c.291G>A c.(289-291)acG>acA p.T97T SKCM 4 154649471 154649471 + Missense_Mutation SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr4:154649471T>C c.289A>G c.(289-291)Acg>Gcg p.T97A SKCM 4 154649477 154649477 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr4:154649477A>T c.283T>A c.(283-285)Tat>Aat p.Y95N

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 154626418 154626418 single base substitution C G downstream_gene_variant BLCA-US 4 154669807 154669807 single base substitution C G 3_prime_UTR_variant BLCA-US 4 154669807 154669807 single base substitution C G exon_variant BLCA-US 4 154669807 154669807 single base substitution C G intron_variant BLCA-US 4 154669807 154669807 single base substitution C G missense_variant D3H 7G>C BLCA-US 4 154669807 154669807 single base substitution C G missense_variant R79P 236G>C BOCA-FR 4 154648853 154648853 single base substitution G A intron_variant BRCA-EU 4 154626950 154626950 single base substitution G A downstream_gene_variant BRCA-EU 4 154628518 154628518 single base substitution G A downstream_gene_variant BRCA-EU 4 154629462 154629462 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 154630998 154630998 single base substitution C G downstream_gene_variant BRCA-EU 4 154631158 154631158 single base substitution G C downstream_gene_variant BRCA-EU 4 154631556 154631556 single base substitution C A downstream_gene_variant BRCA-EU 4 154631556 154631556 single base substitution C A missense_variant V318F 952G>T BRCA-EU 4 154632065 154632065 single base substitution A G downstream_gene_variant BRCA-EU 4 154632065 154632065 single base substitution A G intron_variant BRCA-EU 4 154633599 154633599 single base substitution C T downstream_gene_variant BRCA-EU 4 154633599 154633599 single base substitution C T intron_variant BRCA-EU 4 154635773 154635773 insertion of <=200bp - T 3_prime_UTR_variant BRCA-EU 4 154635773 154635773 insertion of <=200bp - T intron_variant BRCA-EU 4 154637108 154637108 single base substitution C T downstream_gene_variant BRCA-EU 4 154637108 154637108 single base substitution C T intron_variant BRCA-EU 4 154637650 154637650 single base substitution G A downstream_gene_variant BRCA-EU 4 154637650 154637650 single base substitution G A intron_variant BRCA-EU 4 154638737 154638737 single base substitution C G downstream_gene_variant BRCA-EU 4 154638737 154638737 single base substitution C G intron_variant BRCA-EU 4 154638954 154638954 single base substitution C T downstream_gene_variant BRCA-EU 4 154638954 154638954 single base substitution C T intron_variant BRCA-EU 4 154638979 154638979 single base substitution C G downstream_gene_variant BRCA-EU 4 154638979 154638979 single base substitution C G intron_variant BRCA-EU 4 154639523 154639523 single base substitution C G downstream_gene_variant BRCA-EU 4 154639523 154639523 single base substitution C G intron_variant BRCA-EU 4 154640331 154640331 single base substitution C G downstream_gene_variant BRCA-EU 4 154640331 154640331 single base substitution C G intron_variant BRCA-EU 4 154640438 154640438 single base substitution C G downstream_gene_variant BRCA-EU 4 154640438 154640438 single base substitution C G intron_variant BRCA-EU 4 154640442 154640442 single base substitution C G downstream_gene_variant BRCA-EU 4 154640442 154640442 single base substitution C G intron_variant BRCA-EU 4 154640880 154640880 single base substitution G A downstream_gene_variant BRCA-EU 4 154640880 154640880 single base substitution G A intron_variant BRCA-EU 4 154641879 154641879 single base substitution C A downstream_gene_variant BRCA-EU 4 154641879 154641879 single base substitution C A intron_variant BRCA-EU 4 154644035 154644035 single base substitution C T downstream_gene_variant BRCA-EU 4 154644035 154644035 single base substitution C T intron_variant BRCA-EU 4 154644341 154644341 single base substitution C G downstream_gene_variant BRCA-EU 4 154644341 154644341 single base substitution C G intron_variant BRCA-EU 4 154644820 154644820 single base substitution T C intron_variant BRCA-EU 4 154644962 154644962 single base substitution G T intron_variant BRCA-EU 4 154645989 154645989 single base substitution G A intron_variant BRCA-EU 4 154646195 154646195 single base substitution G A intron_variant BRCA-EU 4 154647259 154647259 single base substitution T G intron_variant BRCA-EU 4 154647364 154647364 single base substitution C T intron_variant BRCA-EU 4 154648008 154648008 single base substitution C T intron_variant BRCA-EU 4 154648483 154648529 deletion of <=200bp ATAACATGAATTCATGTATTTGGATATCCATTTTTATCATCACATTT - intron_variant BRCA-EU 4 154649539 154649539 single base substitution T C intron_variant BRCA-EU 4 154649801 154649801 single base substitution A C intron_variant BRCA-EU 4 154653119 154653119 single base substitution C A intron_variant BRCA-EU 4 154655711 154655711 single base substitution G C intron_variant BRCA-EU 4 154657983 154657983 single base substitution C T intron_variant BRCA-EU 4 154660624 154660624 single base substitution C A intron_variant BRCA-EU 4 154661410 154661410 single base substitution C T intron_variant BRCA-EU 4 154661594 154661594 insertion of <=200bp - T intron_variant BRCA-EU 4 154662888 154662888 deletion of <=200bp T - intron_variant BRCA-EU 4 154663331 154663331 single base substitution C T intron_variant BRCA-EU 4 154665579 154665579 single base substitution A G downstream_gene_variant BRCA-EU 4 154665579 154665579 single base substitution A G intron_variant BRCA-EU 4 154666206 154666206 single base substitution T A downstream_gene_variant BRCA-EU 4 154666206 154666206 single base substitution T A intron_variant BRCA-EU 4 154666550 154666550 single base substitution C G downstream_gene_variant BRCA-EU 4 154666550 154666550 single base substitution C G intron_variant BRCA-EU 4 154667528 154667528 single base substitution C A downstream_gene_variant BRCA-EU 4 154667528 154667528 single base substitution C A intron_variant BRCA-EU 4 154667634 154667634 single base substitution T G downstream_gene_variant BRCA-EU 4 154667634 154667634 single base substitution T G intron_variant BRCA-EU 4 154667979 154667979 single base substitution G A downstream_gene_variant BRCA-EU 4 154667979 154667979 single base substitution G A intron_variant BRCA-EU 4 154668749 154668749 single base substitution G A downstream_gene_variant BRCA-EU 4 154668749 154668749 single base substitution G A intron_variant BRCA-EU 4 154669715 154669715 single base substitution C G exon_variant BRCA-EU 4 154669715 154669715 single base substitution C G intron_variant BRCA-EU 4 154671640 154671640 single base substitution C G intron_variant BRCA-EU 4 154671640 154671640 single base substitution C G upstream_gene_variant BRCA-EU 4 154673107 154673107 single base substitution G A intron_variant BRCA-EU 4 154673107 154673107 single base substitution G A upstream_gene_variant BRCA-EU 4 154673133 154673133 single base substitution C G intron_variant BRCA-EU 4 154673133 154673133 single base substitution C G upstream_gene_variant BRCA-EU 4 154673149 154673149 single base substitution C T intron_variant BRCA-EU 4 154673149 154673149 single base substitution C T upstream_gene_variant BRCA-EU 4 154673698 154673698 single base substitution C A intron_variant BRCA-EU 4 154673698 154673698 single base substitution C A upstream_gene_variant BRCA-EU 4 154674086 154674086 deletion of <=200bp A - intron_variant BRCA-EU 4 154674086 154674086 deletion of <=200bp A - upstream_gene_variant BRCA-EU 4 154675278 154675278 single base substitution C T intron_variant BRCA-EU 4 154675668 154675668 single base substitution T A intron_variant BRCA-EU 4 154680037 154680037 single base substitution C T intron_variant BRCA-EU 4 154682243 154682243 single base substitution C A upstream_gene_variant BRCA-EU 4 154682287 154682287 single base substitution G T upstream_gene_variant BRCA-EU 4 154682734 154682734 single base substitution G A upstream_gene_variant BRCA-EU 4 154682842 154682842 single base substitution C T upstream_gene_variant BRCA-EU 4 154684816 154684816 single base substitution C T upstream_gene_variant BRCA-EU 4 154684986 154684986 single base substitution C T upstream_gene_variant BRCA-EU 4 154685718 154685718 single base substitution T C upstream_gene_variant BRCA-EU 4 154685920 154685920 single base substitution A G upstream_gene_variant BRCA-EU 4 154685950 154685950 single base substitution G A upstream_gene_variant BRCA-FR 4 154644303 154644303 single base substitution T A downstream_gene_variant BRCA-FR 4 154644303 154644303 single base substitution T A intron_variant BRCA-FR 4 154661410 154661410 single base substitution C T intron_variant BRCA-KR 4 154641443 154641443 single base substitution C G 3_prime_UTR_variant BRCA-KR 4 154641443 154641443 single base substitution C G downstream_gene_variant BRCA-KR 4 154641443 154641443 single base substitution C G exon_variant BRCA-KR 4 154641443 154641443 single base substitution C G missense_variant D115H 343G>C BRCA-KR 4 154641443 154641443 single base substitution C G missense_variant D175H 523G>C BRCA-KR 4 154641443 154641443 single base substitution C G missense_variant D47H 139G>C BRCA-UK 4 154628518 154628518 single base substitution G A downstream_gene_variant BRCA-UK 4 154651594 154651594 single base substitution T G intron_variant BTCA-JP 4 154631736 154631736 single base substitution G A downstream_gene_variant BTCA-JP 4 154631736 154631736 single base substitution G A intron_variant BTCA-JP 4 154633599 154633599 single base substitution C G downstream_gene_variant BTCA-JP 4 154633599 154633599 single base substitution C G intron_variant BTCA-JP 4 154649438 154649438 single base substitution T A 3_prime_UTR_variant BTCA-JP 4 154649438 154649438 single base substitution T A exon_variant BTCA-JP 4 154649438 154649438 single base substitution T A intron_variant BTCA-JP 4 154649438 154649438 single base substitution T A missense_variant M108L 322A>T BTCA-JP 4 154649438 154649438 single base substitution T A missense_variant M48L 142A>T CLLE-ES 4 154627043 154627043 single base substitution A G downstream_gene_variant CLLE-ES 4 154669218 154669218 single base substitution G A downstream_gene_variant CLLE-ES 4 154669218 154669218 single base substitution G A intron_variant CLLE-ES 4 154680391 154680391 single base substitution C A intron_variant COAD-US 4 154626282 154626282 insertion of <=200bp - A downstream_gene_variant COAD-US 4 154626369 154626369 single base substitution G A downstream_gene_variant COAD-US 4 154631563 154631563 single base substitution T C downstream_gene_variant COAD-US 4 154631563 154631563 single base substitution T C missense_variant I315M 945A>G COAD-US 4 154631587 154631587 single base substitution C G downstream_gene_variant COAD-US 4 154631587 154631587 single base substitution C G missense_variant L307F 921G>C COAD-US 4 154636777 154636777 single base substitution G A 3_prime_UTR_variant COAD-US 4 154636777 154636777 single base substitution G A downstream_gene_variant COAD-US 4 154636777 154636777 single base substitution G A missense_variant S223L 668C>T COAD-US 4 154636777 154636777 single base substitution G A missense_variant S95L 284C>T COAD-US 4 154669887 154669887 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 4 154669887 154669887 single base substitution G A exon_variant COAD-US 4 154669887 154669887 single base substitution G A intron_variant COAD-US 4 154669887 154669887 single base substitution G A synonymous_variant H52H 156C>T COCA-CN 4 154626360 154626360 single base substitution C T downstream_gene_variant COCA-CN 4 154633604 154633604 single base substitution A C downstream_gene_variant COCA-CN 4 154633604 154633604 single base substitution A C intron_variant COCA-CN 4 154633853 154633853 single base substitution T C downstream_gene_variant COCA-CN 4 154633853 154633853 single base substitution T C intron_variant COCA-CN 4 154636767 154636767 single base substitution G T 3_prime_UTR_variant COCA-CN 4 154636767 154636767 single base substitution G T downstream_gene_variant COCA-CN 4 154636767 154636767 single base substitution G T synonymous_variant I226I 678C>A COCA-CN 4 154636767 154636767 single base substitution G T synonymous_variant I98I 294C>A COCA-CN 4 154644591 154644591 single base substitution G T 3_prime_UTR_variant COCA-CN 4 154644591 154644591 single base substitution G T exon_variant COCA-CN 4 154644591 154644591 single base substitution G T missense_variant L13I 37C>A COCA-CN 4 154644591 154644591 single base substitution G T missense_variant L141I 421C>A COCA-CN 4 154644591 154644591 single base substitution G T missense_variant L81I 241C>A EOPC-DE 4 154646078 154646078 single base substitution A G intron_variant EOPC-DE 4 154648214 154648214 single base substitution G A intron_variant EOPC-DE 4 154680507 154680507 single base substitution C T intron_variant ESAD-UK 4 154626337 154626337 single base substitution A T downstream_gene_variant ESAD-UK 4 154626617 154626617 insertion of <=200bp - G downstream_gene_variant ESAD-UK 4 154627228 154627228 single base substitution T G downstream_gene_variant ESAD-UK 4 154627815 154627815 single base substitution T G downstream_gene_variant ESAD-UK 4 154629435 154629435 single base substitution C G downstream_gene_variant ESAD-UK 4 154630122 154630122 single base substitution G T downstream_gene_variant ESAD-UK 4 154630123 154630123 single base substitution C T downstream_gene_variant ESAD-UK 4 154630467 154630467 single base substitution C G downstream_gene_variant ESAD-UK 4 154631936 154631936 single base substitution A G downstream_gene_variant ESAD-UK 4 154631936 154631936 single base substitution A G intron_variant ESAD-UK 4 154632662 154632662 deletion of <=200bp T - downstream_gene_variant ESAD-UK 4 154632662 154632662 deletion of <=200bp T - intron_variant ESAD-UK 4 154632696 154632696 single base substitution G A downstream_gene_variant ESAD-UK 4 154632696 154632696 single base substitution G A intron_variant ESAD-UK 4 154633258 154633258 single base substitution T C downstream_gene_variant ESAD-UK 4 154633258 154633258 single base substitution T C intron_variant ESAD-UK 4 154633684 154633684 insertion of <=200bp - T 3_prime_UTR_variant ESAD-UK 4 154633684 154633684 insertion of <=200bp - T downstream_gene_variant ESAD-UK 4 154633684 154633684 insertion of <=200bp - T frameshift_variant K270K? ESAD-UK 4 154634947 154634947 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 4 154634947 154634947 deletion of <=200bp A - intron_variant ESAD-UK 4 154635185 154635185 single base substitution G T 3_prime_UTR_variant ESAD-UK 4 154635185 154635185 single base substitution G T intron_variant ESAD-UK 4 154636791 154636791 single base substitution A C 3_prime_UTR_variant ESAD-UK 4 154636791 154636791 single base substitution A C downstream_gene_variant ESAD-UK 4 154636791 154636791 single base substitution A C synonymous_variant P218P 654T>G ESAD-UK 4 154636791 154636791 single base substitution A C synonymous_variant P90P 270T>G ESAD-UK 4 154637294 154637294 single base substitution A C downstream_gene_variant ESAD-UK 4 154637294 154637294 single base substitution A C intron_variant ESAD-UK 4 154637383 154637383 single base substitution C T downstream_gene_variant ESAD-UK 4 154637383 154637383 single base substitution C T intron_variant ESAD-UK 4 154637551 154637551 single base substitution G A downstream_gene_variant ESAD-UK 4 154637551 154637551 single base substitution G A intron_variant ESAD-UK 4 154637717 154637717 single base substitution T C downstream_gene_variant ESAD-UK 4 154637717 154637717 single base substitution T C intron_variant ESAD-UK 4 154639464 154639464 single base substitution T G downstream_gene_variant ESAD-UK 4 154639464 154639464 single base substitution T G intron_variant ESAD-UK 4 154640644 154640644 single base substitution T C downstream_gene_variant ESAD-UK 4 154640644 154640644 single base substitution T C intron_variant ESAD-UK 4 154642553 154642553 single base substitution G A downstream_gene_variant ESAD-UK 4 154642553 154642553 single base substitution G A intron_variant ESAD-UK 4 154643601 154643601 single base substitution G T downstream_gene_variant ESAD-UK 4 154643601 154643601 single base substitution G T intron_variant ESAD-UK 4 154645145 154645145 single base substitution A C intron_variant ESAD-UK 4 154645434 154645434 deletion of <=200bp G - intron_variant ESAD-UK 4 154645544 154645544 single base substitution C T intron_variant ESAD-UK 4 154646318 154646318 single base substitution C T intron_variant ESAD-UK 4 154647537 154647537 single base substitution G A intron_variant ESAD-UK 4 154648018 154648018 single base substitution T G intron_variant ESAD-UK 4 154650545 154650545 single base substitution G A intron_variant ESAD-UK 4 154653016 154653016 deletion of <=200bp A - intron_variant ESAD-UK 4 154653949 154653949 single base substitution G T intron_variant ESAD-UK 4 154654106 154654106 single base substitution A G intron_variant ESAD-UK 4 154656616 154656616 single base substitution A G intron_variant ESAD-UK 4 154660593 154660593 insertion of <=200bp - CAGGC intron_variant ESAD-UK 4 154664266 154664266 single base substitution C T intron_variant ESAD-UK 4 154664560 154664560 single base substitution T C downstream_gene_variant ESAD-UK 4 154664560 154664560 single base substitution T C intron_variant ESAD-UK 4 154667475 154667475 single base substitution T C downstream_gene_variant ESAD-UK 4 154667475 154667475 single base substitution T C intron_variant ESAD-UK 4 154669575 154669575 single base substitution C A downstream_gene_variant ESAD-UK 4 154669575 154669575 single base substitution C A exon_variant ESAD-UK 4 154669575 154669575 single base substitution C A intron_variant ESAD-UK 4 154670875 154670875 deletion of <=200bp A - intron_variant ESAD-UK 4 154670875 154670875 deletion of <=200bp A - upstream_gene_variant ESAD-UK 4 154671572 154671572 single base substitution A C intron_variant ESAD-UK 4 154671572 154671572 single base substitution A C upstream_gene_variant ESAD-UK 4 154672749 154672749 single base substitution T A intron_variant ESAD-UK 4 154672749 154672749 single base substitution T A upstream_gene_variant ESAD-UK 4 154675195 154675195 single base substitution G A intron_variant ESAD-UK 4 154675333 154675333 single base substitution A G intron_variant ESAD-UK 4 154677876 154677876 single base substitution G T intron_variant ESAD-UK 4 154680557 154680557 single base substitution C T intron_variant ESAD-UK 4 154683199 154683199 single base substitution T C upstream_gene_variant ESAD-UK 4 154685497 154685497 single base substitution T G upstream_gene_variant ESAD-UK 4 154686319 154686319 single base substitution C T upstream_gene_variant GACA-CN 4 154649363 154649363 single base substitution G A 3_prime_UTR_variant GACA-CN 4 154649363 154649363 single base substitution G A exon_variant GACA-CN 4 154649363 154649363 single base substitution G A intron_variant GACA-CN 4 154649363 154649363 single base substitution G A missense_variant P133S 397C>T GACA-CN 4 154649363 154649363 single base substitution G A missense_variant P73S 217C>T LAML-KR 4 154631563 154631563 single base substitution T C downstream_gene_variant LAML-KR 4 154631563 154631563 single base substitution T C missense_variant I315M 945A>G LAML-KR 4 154641489 154641489 single base substitution T C downstream_gene_variant LAML-KR 4 154641489 154641489 single base substitution T C intron_variant LAML-KR 4 154646260 154646260 single base substitution T G intron_variant LAML-KR 4 154667745 154667745 single base substitution G T downstream_gene_variant LAML-KR 4 154667745 154667745 single base substitution G T intron_variant LGG-US 4 154636798 154636798 single base substitution C T 3_prime_UTR_variant LGG-US 4 154636798 154636798 single base substitution C T downstream_gene_variant LGG-US 4 154636798 154636798 single base substitution C T missense_variant R216Q 647G>A LGG-US 4 154636798 154636798 single base substitution C T missense_variant R88Q 263G>A LICA-CN 4 154636706 154636706 single base substitution T A 3_prime_UTR_variant LICA-CN 4 154636706 154636706 single base substitution T A downstream_gene_variant LICA-CN 4 154636706 154636706 single base substitution T A missense_variant T119S 355A>T LICA-CN 4 154636706 154636706 single base substitution T A missense_variant T247S 739A>T LICA-FR 4 154629024 154629024 single base substitution G T downstream_gene_variant LICA-FR 4 154645717 154645717 single base substitution C A intron_variant LICA-FR 4 154680156 154680156 single base substitution G A intron_variant LICA-FR 4 154680972 154680972 single base substitution C T 5_prime_UTR_variant LICA-FR 4 154680972 154680972 single base substitution C T exon_variant LICA-FR 4 154680972 154680972 single base substitution C T intron_variant LICA-FR 4 154680972 154680972 single base substitution C T missense_variant E15K 43G>A LIHC-US 4 154636682 154636682 single base substitution C T 3_prime_UTR_variant LIHC-US 4 154636682 154636682 single base substitution C T downstream_gene_variant LIHC-US 4 154636682 154636682 single base substitution C T missense_variant V127M 379G>A LIHC-US 4 154636682 154636682 single base substitution C T missense_variant V255I 763G>A LIHC-US 4 154636682 154636682 single base substitution C T splice_region_variant LIHC-US 4 154649420 154649420 single base substitution C T 3_prime_UTR_variant LIHC-US 4 154649420 154649420 single base substitution C T exon_variant LIHC-US 4 154649420 154649420 single base substitution C T intron_variant LIHC-US 4 154649420 154649420 single base substitution C T missense_variant V114I 340G>A LIHC-US 4 154649420 154649420 single base substitution C T missense_variant V54I 160G>A LINC-JP 4 154627582 154627582 single base substitution C G downstream_gene_variant LINC-JP 4 154630928 154630928 single base substitution A G downstream_gene_variant LINC-JP 4 154631676 154631676 single base substitution G C downstream_gene_variant LINC-JP 4 154631676 154631676 single base substitution G C intron_variant LINC-JP 4 154637031 154637031 single base substitution G A downstream_gene_variant LINC-JP 4 154637031 154637031 single base substitution G A intron_variant LINC-JP 4 154650052 154650052 single base substitution C T intron_variant LINC-JP 4 154652809 154652809 single base substitution G A intron_variant LINC-JP 4 154654062 154654062 single base substitution G T intron_variant LINC-JP 4 154656932 154656932 single base substitution T C intron_variant LINC-JP 4 154661932 154661932 single base substitution A G intron_variant LINC-JP 4 154662591 154662591 single base substitution A G intron_variant LINC-JP 4 154663622 154663622 single base substitution A G intron_variant LINC-JP 4 154666162 154666162 single base substitution A T downstream_gene_variant LINC-JP 4 154666162 154666162 single base substitution A T intron_variant LINC-JP 4 154679927 154679927 deletion of <=200bp A - intron_variant LIRI-JP 4 154626447 154626447 single base substitution T C downstream_gene_variant LIRI-JP 4 154626508 154626508 single base substitution G T downstream_gene_variant LIRI-JP 4 154630302 154630302 single base substitution C T downstream_gene_variant LIRI-JP 4 154630324 154630324 single base substitution T C downstream_gene_variant LIRI-JP 4 154630748 154630748 single base substitution C T downstream_gene_variant LIRI-JP 4 154631240 154631240 single base substitution G A downstream_gene_variant LIRI-JP 4 154632624 154632624 single base substitution G T downstream_gene_variant LIRI-JP 4 154632624 154632624 single base substitution G T intron_variant LIRI-JP 4 154634878 154634878 deletion of <=200bp T - 3_prime_UTR_variant LIRI-JP 4 154634878 154634878 deletion of <=200bp T - intron_variant LIRI-JP 4 154637754 154637754 single base substitution A T downstream_gene_variant LIRI-JP 4 154637754 154637754 single base substitution A T intron_variant LIRI-JP 4 154638648 154638648 single base substitution T C downstream_gene_variant LIRI-JP 4 154638648 154638648 single base substitution T C intron_variant LIRI-JP 4 154639521 154639521 single base substitution C T downstream_gene_variant LIRI-JP 4 154639521 154639521 single base substitution C T intron_variant LIRI-JP 4 154640177 154640177 single base substitution T C downstream_gene_variant LIRI-JP 4 154640177 154640177 single base substitution T C intron_variant LIRI-JP 4 154640622 154640622 single base substitution C T downstream_gene_variant LIRI-JP 4 154640622 154640622 single base substitution C T intron_variant LIRI-JP 4 154645171 154645171 single base substitution G T intron_variant LIRI-JP 4 154645291 154645291 single base substitution G A intron_variant LIRI-JP 4 154646043 154646043 single base substitution G C intron_variant LIRI-JP 4 154646044 154646044 single base substitution T C intron_variant LIRI-JP 4 154648509 154648509 single base substitution T C intron_variant LIRI-JP 4 154648543 154648543 single base substitution C T intron_variant LIRI-JP 4 154648914 154648914 deletion of <=200bp C - intron_variant LIRI-JP 4 154649336 154649336 single base substitution G T intron_variant LIRI-JP 4 154650131 154650131 single base substitution T A intron_variant LIRI-JP 4 154652345 154652345 single base substitution T C intron_variant LIRI-JP 4 154652496 154652496 single base substitution A G intron_variant LIRI-JP 4 154653436 154653436 single base substitution T C intron_variant LIRI-JP 4 154656582 154656582 single base substitution A G intron_variant LIRI-JP 4 154656612 154656612 single base substitution T A intron_variant LIRI-JP 4 154657341 154657341 single base substitution C T intron_variant LIRI-JP 4 154657599 154657599 single base substitution G T intron_variant LIRI-JP 4 154660495 154660495 single base substitution C G intron_variant LIRI-JP 4 154662647 154662647 single base substitution T C intron_variant LIRI-JP 4 154663978 154663978 single base substitution T C intron_variant LIRI-JP 4 154664697 154664697 deletion of <=200bp T - downstream_gene_variant LIRI-JP 4 154664697 154664697 deletion of <=200bp T - intron_variant LIRI-JP 4 154668430 154668430 single base substitution A G downstream_gene_variant LIRI-JP 4 154668430 154668430 single base substitution A G intron_variant LIRI-JP 4 154668534 154668534 single base substitution C T downstream_gene_variant LIRI-JP 4 154668534 154668534 single base substitution C T intron_variant LIRI-JP 4 154670278 154670278 single base substitution G A intron_variant LIRI-JP 4 154670278 154670278 single base substitution G A upstream_gene_variant LIRI-JP 4 154671605 154671605 single base substitution T C intron_variant LIRI-JP 4 154671605 154671605 single base substitution T C upstream_gene_variant LIRI-JP 4 154671694 154671694 single base substitution A G intron_variant LIRI-JP 4 154671694 154671694 single base substitution A G upstream_gene_variant LIRI-JP 4 154674214 154674214 single base substitution A G intron_variant LIRI-JP 4 154674214 154674214 single base substitution A G upstream_gene_variant LIRI-JP 4 154676345 154676345 single base substitution A G intron_variant LIRI-JP 4 154677222 154677222 single base substitution C A intron_variant LIRI-JP 4 154677223 154677223 single base substitution T C intron_variant LIRI-JP 4 154678034 154678034 single base substitution G C intron_variant LIRI-JP 4 154678823 154678823 single base substitution G A intron_variant LIRI-JP 4 154679676 154679676 single base substitution A G intron_variant LIRI-JP 4 154680203 154680203 single base substitution T A intron_variant LIRI-JP 4 154680987 154680987 single base substitution C G 5_prime_UTR_variant LIRI-JP 4 154680987 154680987 single base substitution C G exon_variant LIRI-JP 4 154680987 154680987 single base substitution C G intron_variant LIRI-JP 4 154680987 154680987 single base substitution C G missense_variant A10P 28G>C LIRI-JP 4 154681599 154681599 deletion of <=200bp A - upstream_gene_variant LIRI-JP 4 154683086 154683086 single base substitution A G upstream_gene_variant LIRI-JP 4 154684237 154684237 single base substitution A G upstream_gene_variant LIRI-JP 4 154685643 154685643 single base substitution G T upstream_gene_variant LIRI-JP 4 154685983 154685983 single base substitution G A upstream_gene_variant LIRI-JP 4 154686306 154686306 single base substitution A T upstream_gene_variant LUSC-KR 4 154626966 154626966 single base substitution A G downstream_gene_variant LUSC-KR 4 154631563 154631563 single base substitution T C downstream_gene_variant LUSC-KR 4 154631563 154631563 single base substitution T C missense_variant I315M 945A>G LUSC-KR 4 154641489 154641489 single base substitution T C downstream_gene_variant LUSC-KR 4 154641489 154641489 single base substitution T C intron_variant LUSC-KR 4 154645947 154645947 single base substitution T C intron_variant LUSC-KR 4 154645949 154645949 single base substitution T A intron_variant LUSC-KR 4 154645950 154645950 single base substitution G T intron_variant LUSC-KR 4 154646312 154646312 single base substitution C A intron_variant LUSC-KR 4 154662874 154662874 single base substitution A G intron_variant LUSC-KR 4 154669382 154669382 single base substitution A G downstream_gene_variant LUSC-KR 4 154669382 154669382 single base substitution A G intron_variant LUSC-KR 4 154673830 154673830 single base substitution A T intron_variant LUSC-KR 4 154673830 154673830 single base substitution A T upstream_gene_variant LUSC-KR 4 154674054 154674054 single base substitution G A intron_variant LUSC-KR 4 154674054 154674054 single base substitution G A upstream_gene_variant LUSC-KR 4 154678754 154678754 single base substitution C G intron_variant LUSC-KR 4 154683514 154683514 single base substitution A T upstream_gene_variant MALY-DE 4 154627448 154627448 single base substitution T C downstream_gene_variant MALY-DE 4 154627546 154627546 single base substitution C G downstream_gene_variant MALY-DE 4 154642189 154642189 single base substitution C T downstream_gene_variant MALY-DE 4 154642189 154642189 single base substitution C T intron_variant MALY-DE 4 154644049 154644049 single base substitution C T downstream_gene_variant MALY-DE 4 154644049 154644049 single base substitution C T intron_variant MALY-DE 4 154644868 154644868 single base substitution C T intron_variant MALY-DE 4 154645519 154645519 deletion of <=200bp A - intron_variant MALY-DE 4 154645826 154645826 single base substitution C T intron_variant MALY-DE 4 154647226 154647227 deletion of <=200bp TG - intron_variant MALY-DE 4 154654093 154654093 single base substitution T A intron_variant MALY-DE 4 154668465 154668465 single base substitution A G downstream_gene_variant MALY-DE 4 154668465 154668465 single base substitution A G intron_variant MALY-DE 4 154671820 154671820 single base substitution G A intron_variant MALY-DE 4 154671820 154671820 single base substitution G A upstream_gene_variant MALY-DE 4 154672570 154672570 deletion of <=200bp A - intron_variant MALY-DE 4 154672570 154672570 deletion of <=200bp A - upstream_gene_variant MALY-DE 4 154674214 154674214 single base substitution A G intron_variant MALY-DE 4 154674214 154674214 single base substitution A G upstream_gene_variant MELA-AU 4 154626361 154626361 single base substitution G A downstream_gene_variant MELA-AU 4 154626816 154626816 single base substitution T A downstream_gene_variant MELA-AU 4 154626929 154626929 single base substitution C T downstream_gene_variant MELA-AU 4 154627108 154627108 single base substitution C T downstream_gene_variant MELA-AU 4 154627218 154627218 single base substitution C T downstream_gene_variant MELA-AU 4 154627315 154627315 single base substitution T C downstream_gene_variant MELA-AU 4 154627424 154627424 single base substitution C T downstream_gene_variant MELA-AU 4 154627476 154627476 single base substitution C T downstream_gene_variant MELA-AU 4 154627480 154627480 single base substitution T A downstream_gene_variant MELA-AU 4 154627559 154627559 single base substitution T A downstream_gene_variant MELA-AU 4 154628065 154628065 single base substitution C T downstream_gene_variant MELA-AU 4 154628073 154628073 single base substitution C T downstream_gene_variant MELA-AU 4 154628476 154628476 single base substitution G A downstream_gene_variant MELA-AU 4 154628511 154628511 single base substitution G A downstream_gene_variant MELA-AU 4 154628610 154628610 single base substitution G A downstream_gene_variant MELA-AU 4 154628729 154628729 single base substitution G A downstream_gene_variant MELA-AU 4 154629052 154629052 single base substitution C T downstream_gene_variant MELA-AU 4 154629085 154629085 single base substitution C T downstream_gene_variant MELA-AU 4 154629694 154629694 single base substitution A T downstream_gene_variant MELA-AU 4 154629759 154629759 single base substitution T C downstream_gene_variant MELA-AU 4 154629852 154629852 single base substitution T C downstream_gene_variant MELA-AU 4 154629853 154629853 single base substitution C T downstream_gene_variant MELA-AU 4 154630360 154630360 single base substitution G A downstream_gene_variant MELA-AU 4 154630433 154630433 single base substitution G A downstream_gene_variant MELA-AU 4 154630619 154630619 single base substitution C T downstream_gene_variant MELA-AU 4 154630783 154630783 single base substitution G A downstream_gene_variant MELA-AU 4 154630793 154630793 single base substitution C T downstream_gene_variant MELA-AU 4 154631068 154631068 single base substitution G A downstream_gene_variant MELA-AU 4 154631262 154631262 single base substitution C T downstream_gene_variant MELA-AU 4 154633033 154633033 single base substitution C T downstream_gene_variant MELA-AU 4 154633033 154633033 single base substitution C T intron_variant MELA-AU 4 154633230 154633230 single base substitution C T downstream_gene_variant MELA-AU 4 154633230 154633230 single base substitution C T intron_variant MELA-AU 4 154633257 154633257 single base substitution T A downstream_gene_variant MELA-AU 4 154633257 154633257 single base substitution T A intron_variant MELA-AU 4 154633688 154633688 single base substitution T C 3_prime_UTR_variant MELA-AU 4 154633688 154633688 single base substitution T C downstream_gene_variant MELA-AU 4 154633688 154633688 single base substitution T C missense_variant K269E 805A>G MELA-AU 4 154633822 154633822 single base substitution G A downstream_gene_variant MELA-AU 4 154633822 154633822 single base substitution G A intron_variant MELA-AU 4 154633856 154633856 single base substitution C T downstream_gene_variant MELA-AU 4 154633856 154633856 single base substitution C T intron_variant MELA-AU 4 154634774 154634774 single base substitution C T 3_prime_UTR_variant MELA-AU 4 154634774 154634774 single base substitution C T intron_variant MELA-AU 4 154635317 154635317 single base substitution C T 3_prime_UTR_variant MELA-AU 4 154635317 154635317 single base substitution C T intron_variant MELA-AU 4 154635317 154635318 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 4 154635317 154635318 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 154635625 154635625 single base substitution G A 3_prime_UTR_variant MELA-AU 4 154635625 154635625 single base substitution G A intron_variant MELA-AU 4 154635994 154635994 single base substitution C T 3_prime_UTR_variant MELA-AU 4 154635994 154635994 single base substitution C T intron_variant MELA-AU 4 154636359 154636359 single base substitution G A 3_prime_UTR_variant MELA-AU 4 154636359 154636359 single base substitution G A downstream_gene_variant MELA-AU 4 154636359 154636359 single base substitution G A intron_variant MELA-AU 4 154636553 154636553 single base substitution G A 3_prime_UTR_variant MELA-AU 4 154636553 154636553 single base substitution G A downstream_gene_variant MELA-AU 4 154636553 154636553 single base substitution G A intron_variant MELA-AU 4 154636553 154636553 single base substitution G A missense_variant P170S 508C>T MELA-AU 4 154636619 154636619 single base substitution G A 3_prime_UTR_variant MELA-AU 4 154636619 154636619 single base substitution G A downstream_gene_variant MELA-AU 4 154636619 154636619 single base substitution G A intron_variant MELA-AU 4 154636619 154636619 single base substitution G A missense_variant P148S 442C>T MELA-AU 4 154636631 154636631 single base substitution G A 3_prime_UTR_variant MELA-AU 4 154636631 154636631 single base substitution G A downstream_gene_variant MELA-AU 4 154636631 154636631 single base substitution G A intron_variant MELA-AU 4 154636631 154636631 single base substitution G A missense_variant P144S 430C>T MELA-AU 4 154636665 154636665 single base substitution C T 3_prime_UTR_variant MELA-AU 4 154636665 154636665 single base substitution C T downstream_gene_variant MELA-AU 4 154636665 154636665 single base substitution C T intron_variant MELA-AU 4 154636665 154636665 single base substitution C T synonymous_variant R132R 396G>A MELA-AU 4 154636819 154636819 single base substitution C A downstream_gene_variant MELA-AU 4 154636819 154636819 single base substitution C A intron_variant MELA-AU 4 154636819 154636819 single base substitution C A splice_region_variant MELA-AU 4 154637193 154637193 single base substitution G A downstream_gene_variant MELA-AU 4 154637193 154637193 single base substitution G A intron_variant MELA-AU 4 154637528 154637528 single base substitution G A downstream_gene_variant MELA-AU 4 154637528 154637528 single base substitution G A intron_variant MELA-AU 4 154637633 154637633 single base substitution G A downstream_gene_variant MELA-AU 4 154637633 154637633 single base substitution G A intron_variant MELA-AU 4 154637648 154637649 multiple base substitution (>=2bp and <=200bp) CC GT downstream_gene_variant MELA-AU 4 154637648 154637649 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 4 154637747 154637747 single base substitution G A downstream_gene_variant MELA-AU 4 154637747 154637747 single base substitution G A intron_variant MELA-AU 4 154637807 154637807 single base substitution C T downstream_gene_variant MELA-AU 4 154637807 154637807 single base substitution C T intron_variant MELA-AU 4 154637957 154637957 single base substitution G A downstream_gene_variant MELA-AU 4 154637957 154637957 single base substitution G A intron_variant MELA-AU 4 154638127 154638127 single base substitution C T downstream_gene_variant MELA-AU 4 154638127 154638127 single base substitution C T intron_variant MELA-AU 4 154638369 154638369 single base substitution C T downstream_gene_variant MELA-AU 4 154638369 154638369 single base substitution C T intron_variant MELA-AU 4 154638487 154638487 single base substitution T C downstream_gene_variant MELA-AU 4 154638487 154638487 single base substitution T C intron_variant MELA-AU 4 154638535 154638535 single base substitution T C downstream_gene_variant MELA-AU 4 154638535 154638535 single base substitution T C intron_variant MELA-AU 4 154638538 154638538 single base substitution C T downstream_gene_variant MELA-AU 4 154638538 154638538 single base substitution C T intron_variant MELA-AU 4 154638553 154638553 single base substitution G A downstream_gene_variant MELA-AU 4 154638553 154638553 single base substitution G A intron_variant MELA-AU 4 154638618 154638618 single base substitution G A downstream_gene_variant MELA-AU 4 154638618 154638618 single base substitution G A intron_variant MELA-AU 4 154638682 154638682 single base substitution C A downstream_gene_variant MELA-AU 4 154638682 154638682 single base substitution C A intron_variant MELA-AU 4 154638734 154638734 single base substitution T G downstream_gene_variant MELA-AU 4 154638734 154638734 single base substitution T G intron_variant MELA-AU 4 154638929 154638929 single base substitution C T downstream_gene_variant MELA-AU 4 154638929 154638929 single base substitution C T intron_variant MELA-AU 4 154638930 154638930 single base substitution C T downstream_gene_variant MELA-AU 4 154638930 154638930 single base substitution C T intron_variant MELA-AU 4 154638936 154638936 single base substitution C T downstream_gene_variant MELA-AU 4 154638936 154638936 single base substitution C T intron_variant MELA-AU 4 154639145 154639145 single base substitution C T downstream_gene_variant MELA-AU 4 154639145 154639145 single base substitution C T intron_variant MELA-AU 4 154639264 154639264 single base substitution G T downstream_gene_variant MELA-AU 4 154639264 154639264 single base substitution G T intron_variant MELA-AU 4 154639316 154639316 single base substitution C T downstream_gene_variant MELA-AU 4 154639316 154639316 single base substitution C T intron_variant MELA-AU 4 154639447 154639447 single base substitution T C downstream_gene_variant MELA-AU 4 154639447 154639447 single base substitution T C intron_variant MELA-AU 4 154639546 154639546 single base substitution A G downstream_gene_variant MELA-AU 4 154639546 154639546 single base substitution A G intron_variant MELA-AU 4 154639607 154639607 single base substitution T C downstream_gene_variant MELA-AU 4 154639607 154639607 single base substitution T C intron_variant MELA-AU 4 154640064 154640064 single base substitution C A downstream_gene_variant MELA-AU 4 154640064 154640064 single base substitution C A intron_variant MELA-AU 4 154640104 154640104 single base substitution C T downstream_gene_variant MELA-AU 4 154640104 154640104 single base substitution C T intron_variant MELA-AU 4 154640248 154640248 single base substitution C T downstream_gene_variant MELA-AU 4 154640248 154640248 single base substitution C T intron_variant MELA-AU 4 154640451 154640451 single base substitution G A downstream_gene_variant MELA-AU 4 154640451 154640451 single base substitution G A intron_variant MELA-AU 4 154641620 154641620 single base substitution C T downstream_gene_variant MELA-AU 4 154641620 154641620 single base substitution C T intron_variant MELA-AU 4 154641654 154641654 single base substitution C T downstream_gene_variant MELA-AU 4 154641654 154641654 single base substitution C T intron_variant MELA-AU 4 154641789 154641789 single base substitution C T downstream_gene_variant MELA-AU 4 154641789 154641789 single base substitution C T intron_variant MELA-AU 4 154641851 154641851 single base substitution C T downstream_gene_variant MELA-AU 4 154641851 154641851 single base substitution C T intron_variant MELA-AU 4 154642700 154642700 single base substitution C T downstream_gene_variant MELA-AU 4 154642700 154642700 single base substitution C T intron_variant MELA-AU 4 154643029 154643029 single base substitution A G downstream_gene_variant MELA-AU 4 154643029 154643029 single base substitution A G intron_variant MELA-AU 4 154643195 154643195 single base substitution C T downstream_gene_variant MELA-AU 4 154643195 154643195 single base substitution C T intron_variant MELA-AU 4 154643440 154643440 single base substitution T C downstream_gene_variant MELA-AU 4 154643440 154643440 single base substitution T C intron_variant MELA-AU 4 154643794 154643794 single base substitution C T downstream_gene_variant MELA-AU 4 154643794 154643794 single base substitution C T intron_variant MELA-AU 4 154644029 154644029 single base substitution G A downstream_gene_variant MELA-AU 4 154644029 154644029 single base substitution G A intron_variant MELA-AU 4 154644286 154644286 single base substitution C T downstream_gene_variant MELA-AU 4 154644286 154644286 single base substitution C T intron_variant MELA-AU 4 154644352 154644352 single base substitution C T downstream_gene_variant MELA-AU 4 154644352 154644352 single base substitution C T intron_variant MELA-AU 4 154644541 154644541 single base substitution C T 3_prime_UTR_variant MELA-AU 4 154644541 154644541 single base substitution C T downstream_gene_variant MELA-AU 4 154644541 154644541 single base substitution C T exon_variant MELA-AU 4 154644541 154644541 single base substitution C T synonymous_variant A157A 471G>A MELA-AU 4 154644541 154644541 single base substitution C T synonymous_variant A29A 87G>A MELA-AU 4 154644541 154644541 single base substitution C T synonymous_variant A97A 291G>A MELA-AU 4 154644655 154644655 single base substitution G A intron_variant MELA-AU 4 154644767 154644767 single base substitution A C intron_variant MELA-AU 4 154644800 154644800 single base substitution C T intron_variant MELA-AU 4 154644905 154644905 single base substitution C T intron_variant MELA-AU 4 154644920 154644920 single base substitution C T intron_variant MELA-AU 4 154645163 154645163 single base substitution C T intron_variant MELA-AU 4 154645261 154645261 single base substitution C T intron_variant MELA-AU 4 154645268 154645268 single base substitution C T intron_variant MELA-AU 4 154645346 154645346 single base substitution C T intron_variant MELA-AU 4 154645356 154645356 single base substitution C T intron_variant MELA-AU 4 154645875 154645875 single base substitution G A intron_variant MELA-AU 4 154646374 154646375 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 4 154646849 154646849 single base substitution C T intron_variant MELA-AU 4 154647033 154647033 single base substitution C T intron_variant MELA-AU 4 154647061 154647061 single base substitution G A intron_variant MELA-AU 4 154647367 154647367 single base substitution C T intron_variant MELA-AU 4 154647578 154647578 single base substitution C T intron_variant MELA-AU 4 154647614 154647614 single base substitution A T intron_variant MELA-AU 4 154647646 154647646 single base substitution C T intron_variant MELA-AU 4 154647799 154647799 single base substitution G A intron_variant MELA-AU 4 154647820 154647820 single base substitution C T intron_variant MELA-AU 4 154648185 154648185 single base substitution T A intron_variant MELA-AU 4 154648511 154648511 single base substitution C T intron_variant MELA-AU 4 154648612 154648612 single base substitution G A intron_variant MELA-AU 4 154648674 154648674 single base substitution C T intron_variant MELA-AU 4 154649263 154649264 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 154649315 154649315 single base substitution T C intron_variant MELA-AU 4 154649431 154649431 single base substitution C T 3_prime_UTR_variant MELA-AU 4 154649431 154649431 single base substitution C T exon_variant MELA-AU 4 154649431 154649431 single base substitution C T intron_variant MELA-AU 4 154649431 154649431 single base substitution C T missense_variant G110E 329G>A MELA-AU 4 154649431 154649431 single base substitution C T missense_variant G50E 149G>A MELA-AU 4 154649564 154649564 single base substitution G A intron_variant MELA-AU 4 154649665 154649665 single base substitution C T intron_variant MELA-AU 4 154649666 154649666 single base substitution C T intron_variant MELA-AU 4 154649754 154649754 single base substitution C T intron_variant MELA-AU 4 154649791 154649791 single base substitution G A intron_variant MELA-AU 4 154649871 154649871 single base substitution C T intron_variant MELA-AU 4 154650258 154650258 single base substitution C T intron_variant MELA-AU 4 154650409 154650409 single base substitution G A intron_variant MELA-AU 4 154650412 154650412 single base substitution T A intron_variant MELA-AU 4 154650975 154650976 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 154650976 154650976 single base substitution G A intron_variant MELA-AU 4 154651064 154651064 single base substitution C T intron_variant MELA-AU 4 154651782 154651782 single base substitution C T intron_variant MELA-AU 4 154651821 154651821 single base substitution C T intron_variant MELA-AU 4 154651948 154651948 single base substitution C T intron_variant MELA-AU 4 154652157 154652157 single base substitution G A intron_variant MELA-AU 4 154652174 154652174 single base substitution A T intron_variant MELA-AU 4 154652817 154652817 single base substitution A G intron_variant MELA-AU 4 154652824 154652824 single base substitution A G intron_variant MELA-AU 4 154652855 154652855 single base substitution G A intron_variant MELA-AU 4 154653164 154653164 single base substitution C T intron_variant MELA-AU 4 154653420 154653420 single base substitution G A intron_variant MELA-AU 4 154654576 154654576 single base substitution A G intron_variant MELA-AU 4 154654999 154654999 single base substitution C T intron_variant MELA-AU 4 154655005 154655005 single base substitution T A intron_variant MELA-AU 4 154655272 154655272 single base substitution T C intron_variant MELA-AU 4 154655918 154655918 single base substitution C T intron_variant MELA-AU 4 154655921 154655921 single base substitution G A intron_variant MELA-AU 4 154655937 154655937 single base substitution C T intron_variant MELA-AU 4 154656016 154656016 single base substitution G A intron_variant MELA-AU 4 154656233 154656233 single base substitution A G intron_variant MELA-AU 4 154656282 154656282 single base substitution C T intron_variant MELA-AU 4 154656529 154656529 single base substitution C T intron_variant MELA-AU 4 154657065 154657065 single base substitution G A intron_variant MELA-AU 4 154657211 154657211 single base substitution G A intron_variant MELA-AU 4 154657476 154657476 single base substitution G C intron_variant MELA-AU 4 154658060 154658060 single base substitution G A intron_variant MELA-AU 4 154658268 154658268 single base substitution C T intron_variant MELA-AU 4 154658280 154658280 single base substitution G A intron_variant MELA-AU 4 154658577 154658577 single base substitution C T intron_variant MELA-AU 4 154658611 154658611 single base substitution T C intron_variant MELA-AU 4 154658678 154658678 single base substitution T A intron_variant MELA-AU 4 154658786 154658786 single base substitution T G intron_variant MELA-AU 4 154658805 154658805 single base substitution G A intron_variant MELA-AU 4 154658865 154658865 single base substitution G A intron_variant MELA-AU 4 154659151 154659151 single base substitution T A intron_variant MELA-AU 4 154659208 154659208 single base substitution C G intron_variant MELA-AU 4 154659226 154659226 single base substitution G A intron_variant MELA-AU 4 154659311 154659311 single base substitution C T intron_variant MELA-AU 4 154659409 154659409 single base substitution C T intron_variant MELA-AU 4 154659428 154659428 single base substitution C T intron_variant MELA-AU 4 154659506 154659506 single base substitution T C intron_variant MELA-AU 4 154659558 154659558 single base substitution G A intron_variant MELA-AU 4 154659606 154659606 single base substitution G A intron_variant MELA-AU 4 154659667 154659667 single base substitution C T intron_variant MELA-AU 4 154659952 154659952 single base substitution C T intron_variant MELA-AU 4 154659995 154659995 single base substitution G A intron_variant MELA-AU 4 154660500 154660500 single base substitution G A intron_variant MELA-AU 4 154661265 154661265 single base substitution C T intron_variant MELA-AU 4 154661741 154661741 single base substitution A T intron_variant MELA-AU 4 154661873 154661873 single base substitution C T intron_variant MELA-AU 4 154661898 154661898 single base substitution C T intron_variant MELA-AU 4 154661917 154661917 single base substitution C T intron_variant MELA-AU 4 154662125 154662125 single base substitution G A intron_variant MELA-AU 4 154662499 154662499 single base substitution G A intron_variant MELA-AU 4 154662708 154662708 single base substitution C T intron_variant MELA-AU 4 154662808 154662808 single base substitution C T intron_variant MELA-AU 4 154662901 154662901 single base substitution C T intron_variant MELA-AU 4 154663127 154663127 single base substitution G A intron_variant MELA-AU 4 154663206 154663206 single base substitution C T intron_variant MELA-AU 4 154663352 154663352 single base substitution G A intron_variant MELA-AU 4 154663585 154663585 single base substitution G A intron_variant MELA-AU 4 154663671 154663671 single base substitution C T intron_variant MELA-AU 4 154664187 154664187 single base substitution G A intron_variant MELA-AU 4 154664343 154664343 single base substitution G A intron_variant MELA-AU 4 154664344 154664344 single base substitution G A intron_variant MELA-AU 4 154664412 154664412 single base substitution C T intron_variant MELA-AU 4 154664477 154664477 single base substitution G A intron_variant MELA-AU 4 154664924 154664924 single base substitution G A downstream_gene_variant MELA-AU 4 154664924 154664924 single base substitution G A intron_variant MELA-AU 4 154664947 154664948 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 154664947 154664948 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 154664960 154664960 single base substitution C T downstream_gene_variant MELA-AU 4 154664960 154664960 single base substitution C T intron_variant MELA-AU 4 154665658 154665658 single base substitution C T downstream_gene_variant MELA-AU 4 154665658 154665658 single base substitution C T intron_variant MELA-AU 4 154665709 154665709 single base substitution G A downstream_gene_variant MELA-AU 4 154665709 154665709 single base substitution G A intron_variant MELA-AU 4 154665781 154665781 single base substitution G A downstream_gene_variant MELA-AU 4 154665781 154665781 single base substitution G A intron_variant MELA-AU 4 154665859 154665859 single base substitution G A downstream_gene_variant MELA-AU 4 154665859 154665859 single base substitution G A intron_variant MELA-AU 4 154666005 154666005 single base substitution G A downstream_gene_variant MELA-AU 4 154666005 154666005 single base substitution G A intron_variant MELA-AU 4 154666393 154666393 single base substitution G A downstream_gene_variant MELA-AU 4 154666393 154666393 single base substitution G A intron_variant MELA-AU 4 154666415 154666415 single base substitution C T downstream_gene_variant MELA-AU 4 154666415 154666415 single base substitution C T intron_variant MELA-AU 4 154666445 154666445 single base substitution G A downstream_gene_variant MELA-AU 4 154666445 154666445 single base substitution G A intron_variant MELA-AU 4 154666485 154666485 single base substitution G A downstream_gene_variant MELA-AU 4 154666485 154666485 single base substitution G A intron_variant MELA-AU 4 154666891 154666891 single base substitution C T downstream_gene_variant MELA-AU 4 154666891 154666891 single base substitution C T intron_variant MELA-AU 4 154667443 154667443 single base substitution G A downstream_gene_variant MELA-AU 4 154667443 154667443 single base substitution G A intron_variant MELA-AU 4 154667561 154667561 single base substitution C T downstream_gene_variant MELA-AU 4 154667561 154667561 single base substitution C T intron_variant MELA-AU 4 154667563 154667563 single base substitution C T downstream_gene_variant MELA-AU 4 154667563 154667563 single base substitution C T intron_variant MELA-AU 4 154668791 154668791 single base substitution A C downstream_gene_variant MELA-AU 4 154668791 154668791 single base substitution A C intron_variant MELA-AU 4 154668925 154668925 single base substitution A G downstream_gene_variant MELA-AU 4 154668925 154668925 single base substitution A G intron_variant MELA-AU 4 154668985 154668985 single base substitution C T downstream_gene_variant MELA-AU 4 154668985 154668985 single base substitution C T intron_variant MELA-AU 4 154669071 154669071 single base substitution A T downstream_gene_variant MELA-AU 4 154669071 154669071 single base substitution A T intron_variant MELA-AU 4 154669657 154669657 single base substitution A C downstream_gene_variant MELA-AU 4 154669657 154669657 single base substitution A C exon_variant MELA-AU 4 154669657 154669657 single base substitution A C intron_variant MELA-AU 4 154670554 154670554 single base substitution G A intron_variant MELA-AU 4 154670554 154670554 single base substitution G A upstream_gene_variant MELA-AU 4 154670555 154670555 single base substitution G A intron_variant MELA-AU 4 154670555 154670555 single base substitution G A upstream_gene_variant MELA-AU 4 154670610 154670610 single base substitution G A intron_variant MELA-AU 4 154670610 154670610 single base substitution G A upstream_gene_variant MELA-AU 4 154671106 154671106 single base substitution C T intron_variant MELA-AU 4 154671106 154671106 single base substitution C T upstream_gene_variant MELA-AU 4 154671548 154671548 single base substitution C T intron_variant MELA-AU 4 154671548 154671548 single base substitution C T upstream_gene_variant MELA-AU 4 154671820 154671820 single base substitution G A intron_variant MELA-AU 4 154671820 154671820 single base substitution G A upstream_gene_variant MELA-AU 4 154672170 154672170 single base substitution G A intron_variant MELA-AU 4 154672170 154672170 single base substitution G A upstream_gene_variant MELA-AU 4 154672204 154672204 single base substitution A G intron_variant MELA-AU 4 154672204 154672204 single base substitution A G upstream_gene_variant MELA-AU 4 154672206 154672206 single base substitution G A intron_variant MELA-AU 4 154672206 154672206 single base substitution G A upstream_gene_variant MELA-AU 4 154672210 154672210 single base substitution G A intron_variant MELA-AU 4 154672210 154672210 single base substitution G A upstream_gene_variant MELA-AU 4 154672234 154672234 single base substitution C T intron_variant MELA-AU 4 154672234 154672234 single base substitution C T upstream_gene_variant MELA-AU 4 154672419 154672419 single base substitution G A intron_variant MELA-AU 4 154672419 154672419 single base substitution G A upstream_gene_variant MELA-AU 4 154672702 154672702 single base substitution G A intron_variant MELA-AU 4 154672702 154672702 single base substitution G A upstream_gene_variant MELA-AU 4 154672716 154672716 single base substitution G A intron_variant MELA-AU 4 154672716 154672716 single base substitution G A upstream_gene_variant MELA-AU 4 154672960 154672960 single base substitution G A intron_variant MELA-AU 4 154672960 154672960 single base substitution G A upstream_gene_variant MELA-AU 4 154673165 154673165 single base substitution G A intron_variant MELA-AU 4 154673165 154673165 single base substitution G A upstream_gene_variant MELA-AU 4 154673348 154673348 single base substitution C T intron_variant MELA-AU 4 154673348 154673348 single base substitution C T upstream_gene_variant MELA-AU 4 154673527 154673527 single base substitution G A intron_variant MELA-AU 4 154673527 154673527 single base substitution G A upstream_gene_variant MELA-AU 4 154673723 154673723 single base substitution C T intron_variant MELA-AU 4 154673723 154673723 single base substitution C T upstream_gene_variant MELA-AU 4 154673816 154673816 single base substitution A T intron_variant MELA-AU 4 154673816 154673816 single base substitution A T upstream_gene_variant MELA-AU 4 154673820 154673820 single base substitution T G intron_variant MELA-AU 4 154673820 154673820 single base substitution T G upstream_gene_variant MELA-AU 4 154674415 154674415 single base substitution G A intron_variant MELA-AU 4 154674415 154674415 single base substitution G A upstream_gene_variant MELA-AU 4 154674416 154674416 single base substitution G A intron_variant MELA-AU 4 154674416 154674416 single base substitution G A upstream_gene_variant MELA-AU 4 154674492 154674494 deletion of <=200bp AAC - intron_variant MELA-AU 4 154674492 154674494 deletion of <=200bp AAC - upstream_gene_variant MELA-AU 4 154674712 154674712 single base substitution C T intron_variant MELA-AU 4 154674712 154674712 single base substitution C T upstream_gene_variant MELA-AU 4 154674726 154674726 single base substitution C T intron_variant MELA-AU 4 154674726 154674726 single base substitution C T upstream_gene_variant MELA-AU 4 154674914 154674914 single base substitution T C intron_variant MELA-AU 4 154675317 154675317 single base substitution G A intron_variant MELA-AU 4 154675333 154675333 single base substitution A G intron_variant MELA-AU 4 154675507 154675507 single base substitution G A intron_variant MELA-AU 4 154675576 154675576 single base substitution G A intron_variant MELA-AU 4 154675962 154675962 single base substitution G A intron_variant MELA-AU 4 154676151 154676151 single base substitution C T intron_variant MELA-AU 4 154676164 154676164 single base substitution G A intron_variant MELA-AU 4 154676349 154676349 single base substitution G A intron_variant MELA-AU 4 154676435 154676435 single base substitution C T intron_variant MELA-AU 4 154676496 154676496 single base substitution C T intron_variant MELA-AU 4 154676664 154676664 single base substitution G A intron_variant MELA-AU 4 154676801 154676801 single base substitution C T intron_variant MELA-AU 4 154676860 154676860 single base substitution G A intron_variant MELA-AU 4 154677019 154677019 single base substitution G A intron_variant MELA-AU 4 154677462 154677462 single base substitution C T intron_variant MELA-AU 4 154678316 154678316 single base substitution C T intron_variant MELA-AU 4 154678886 154678886 single base substitution G A intron_variant MELA-AU 4 154678921 154678921 single base substitution C T intron_variant MELA-AU 4 154678978 154678978 single base substitution G A intron_variant MELA-AU 4 154679017 154679017 single base substitution G A intron_variant MELA-AU 4 154679147 154679147 single base substitution A T intron_variant MELA-AU 4 154679253 154679253 single base substitution G A intron_variant MELA-AU 4 154679357 154679357 single base substitution C T intron_variant MELA-AU 4 154679523 154679523 single base substitution G A intron_variant MELA-AU 4 154679729 154679729 single base substitution C T intron_variant MELA-AU 4 154680500 154680500 single base substitution A G intron_variant MELA-AU 4 154680592 154680592 single base substitution G A intron_variant MELA-AU 4 154680593 154680593 single base substitution G A intron_variant MELA-AU 4 154680710 154680710 single base substitution G A intron_variant MELA-AU 4 154681391 154681391 single base substitution A C upstream_gene_variant MELA-AU 4 154681520 154681520 single base substitution G A upstream_gene_variant MELA-AU 4 154681580 154681580 single base substitution C T upstream_gene_variant MELA-AU 4 154682010 154682010 single base substitution G A upstream_gene_variant MELA-AU 4 154682244 154682244 single base substitution C T upstream_gene_variant MELA-AU 4 154682397 154682397 single base substitution G A upstream_gene_variant MELA-AU 4 154682435 154682435 single base substitution G A upstream_gene_variant MELA-AU 4 154682520 154682520 single base substitution G A upstream_gene_variant MELA-AU 4 154682599 154682599 single base substitution G A upstream_gene_variant MELA-AU 4 154682612 154682612 single base substitution A G upstream_gene_variant MELA-AU 4 154682927 154682927 single base substitution G A upstream_gene_variant MELA-AU 4 154683046 154683046 single base substitution G A upstream_gene_variant MELA-AU 4 154683303 154683303 single base substitution T C upstream_gene_variant MELA-AU 4 154683529 154683529 single base substitution C T upstream_gene_variant MELA-AU 4 154683760 154683760 single base substitution A C upstream_gene_variant MELA-AU 4 154683909 154683909 single base substitution C T upstream_gene_variant MELA-AU 4 154684191 154684191 single base substitution T C upstream_gene_variant MELA-AU 4 154684356 154684356 single base substitution C T upstream_gene_variant MELA-AU 4 154685466 154685466 single base substitution G A upstream_gene_variant MELA-AU 4 154685812 154685812 single base substitution C T upstream_gene_variant MELA-AU 4 154686324 154686325 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant ORCA-IN 4 154668904 154668904 single base substitution C T downstream_gene_variant ORCA-IN 4 154668904 154668904 single base substitution C T intron_variant OV-AU 4 154630529 154630529 single base substitution C G downstream_gene_variant OV-AU 4 154633051 154633051 single base substitution C T downstream_gene_variant OV-AU 4 154633051 154633051 single base substitution C T intron_variant OV-AU 4 154637697 154637697 single base substitution C G downstream_gene_variant OV-AU 4 154637697 154637697 single base substitution C G intron_variant OV-AU 4 154638865 154638865 single base substitution T G downstream_gene_variant OV-AU 4 154638865 154638865 single base substitution T G intron_variant OV-AU 4 154648282 154648282 single base substitution C G intron_variant OV-AU 4 154651008 154651008 single base substitution T C intron_variant OV-AU 4 154651368 154651368 single base substitution G A intron_variant OV-AU 4 154651602 154651602 single base substitution A C intron_variant OV-AU 4 154654956 154654956 single base substitution T G intron_variant OV-AU 4 154662843 154662843 single base substitution T C intron_variant OV-AU 4 154666752 154666752 single base substitution C A downstream_gene_variant OV-AU 4 154666752 154666752 single base substitution C A intron_variant OV-AU 4 154668828 154668828 single base substitution T A downstream_gene_variant OV-AU 4 154668828 154668828 single base substitution T A intron_variant OV-AU 4 154672665 154672665 single base substitution C A intron_variant OV-AU 4 154672665 154672665 single base substitution C A upstream_gene_variant OV-AU 4 154673951 154673951 single base substitution G T intron_variant OV-AU 4 154673951 154673951 single base substitution G T upstream_gene_variant OV-AU 4 154677861 154677861 single base substitution C T intron_variant OV-AU 4 154684511 154684511 single base substitution C A upstream_gene_variant OV-AU 4 154685501 154685501 single base substitution T A upstream_gene_variant PACA-AU 4 154627583 154627583 deletion of <=200bp T - downstream_gene_variant PACA-AU 4 154634313 154634313 single base substitution C G 3_prime_UTR_variant PACA-AU 4 154634313 154634313 single base substitution C G intron_variant PACA-AU 4 154638684 154638684 single base substitution C A downstream_gene_variant PACA-AU 4 154638684 154638684 single base substitution C A intron_variant PACA-AU 4 154638686 154638686 single base substitution A C downstream_gene_variant PACA-AU 4 154638686 154638686 single base substitution A C intron_variant PACA-AU 4 154643568 154643568 single base substitution G A downstream_gene_variant PACA-AU 4 154643568 154643568 single base substitution G A intron_variant PACA-AU 4 154645932 154645932 single base substitution C T intron_variant PACA-AU 4 154648714 154648714 single base substitution A T intron_variant PACA-AU 4 154657555 154657555 deletion of <=200bp A - intron_variant PACA-AU 4 154663099 154663099 single base substitution T C intron_variant PACA-AU 4 154665720 154665720 deletion of <=200bp T - downstream_gene_variant PACA-AU 4 154665720 154665720 deletion of <=200bp T - intron_variant PACA-AU 4 154668923 154668923 single base substitution C T downstream_gene_variant PACA-AU 4 154668923 154668923 single base substitution C T intron_variant PACA-AU 4 154668964 154668964 single base substitution G A downstream_gene_variant PACA-AU 4 154668964 154668964 single base substitution G A intron_variant PACA-AU 4 154670002 154670002 single base substitution C A intron_variant PACA-AU 4 154670002 154670002 single base substitution C A upstream_gene_variant PACA-AU 4 154676823 154676823 single base substitution A C intron_variant PACA-AU 4 154681704 154681704 single base substitution G T upstream_gene_variant PACA-AU 4 154682768 154682768 single base substitution G A upstream_gene_variant PACA-AU 4 154684691 154684691 single base substitution T C upstream_gene_variant PACA-CA 4 154627461 154627461 single base substitution A C downstream_gene_variant PACA-CA 4 154637029 154637029 single base substitution C T downstream_gene_variant PACA-CA 4 154637029 154637029 single base substitution C T intron_variant PACA-CA 4 154637639 154637639 single base substitution T C downstream_gene_variant PACA-CA 4 154637639 154637639 single base substitution T C intron_variant PACA-CA 4 154641449 154641449 single base substitution C T 3_prime_UTR_variant PACA-CA 4 154641449 154641449 single base substitution C T downstream_gene_variant PACA-CA 4 154641449 154641449 single base substitution C T exon_variant PACA-CA 4 154641449 154641449 single base substitution C T missense_variant A113T 337G>A PACA-CA 4 154641449 154641449 single base substitution C T missense_variant A173T 517G>A PACA-CA 4 154641449 154641449 single base substitution C T missense_variant A45T 133G>A PACA-CA 4 154641494 154641494 single base substitution C T downstream_gene_variant PACA-CA 4 154641494 154641494 single base substitution C T intron_variant PACA-CA 4 154644505 154644505 insertion of <=200bp - A downstream_gene_variant PACA-CA 4 154644505 154644505 insertion of <=200bp - A frameshift_variant F109F? PACA-CA 4 154644505 154644505 insertion of <=200bp - A frameshift_variant F169F? PACA-CA 4 154644505 154644505 insertion of <=200bp - A frameshift_variant F41F? PACA-CA 4 154644505 154644505 insertion of <=200bp - A splice_region_variant PACA-CA 4 154644546 154644546 single base substitution A T 3_prime_UTR_variant PACA-CA 4 154644546 154644546 single base substitution A T downstream_gene_variant PACA-CA 4 154644546 154644546 single base substitution A T exon_variant PACA-CA 4 154644546 154644546 single base substitution A T missense_variant L156M 466T>A PACA-CA 4 154644546 154644546 single base substitution A T missense_variant L28M 82T>A PACA-CA 4 154644546 154644546 single base substitution A T missense_variant L96M 286T>A PACA-CA 4 154645837 154645837 single base substitution T C intron_variant PACA-CA 4 154649782 154649782 single base substitution G A intron_variant PACA-CA 4 154654442 154654442 single base substitution T C intron_variant PACA-CA 4 154658921 154658921 single base substitution A T intron_variant PACA-CA 4 154660545 154660545 single base substitution C T intron_variant PACA-CA 4 154661478 154661478 single base substitution G A intron_variant PACA-CA 4 154666647 154666647 single base substitution T C downstream_gene_variant PACA-CA 4 154666647 154666647 single base substitution T C intron_variant PACA-CA 4 154669735 154669735 deletion of <=200bp A - exon_variant PACA-CA 4 154669735 154669735 deletion of <=200bp A - intron_variant PACA-CA 4 154671105 154671105 single base substitution T C intron_variant PACA-CA 4 154671105 154671105 single base substitution T C upstream_gene_variant PACA-CA 4 154674613 154674613 single base substitution C T intron_variant PACA-CA 4 154674613 154674613 single base substitution C T upstream_gene_variant PACA-CA 4 154675000 154675000 single base substitution T G intron_variant PACA-CA 4 154676224 154676224 single base substitution G A intron_variant PACA-CA 4 154681446 154681446 insertion of <=200bp - G upstream_gene_variant PACA-CA 4 154681915 154681915 single base substitution G A upstream_gene_variant PAEN-AU 4 154626886 154626888 deletion of <=200bp TTG - downstream_gene_variant PAEN-AU 4 154644009 154644009 single base substitution T C downstream_gene_variant PAEN-AU 4 154644009 154644009 single base substitution T C intron_variant PAEN-IT 4 154662219 154662219 single base substitution T C intron_variant PAEN-IT 4 154676088 154676088 single base substitution A G intron_variant PBCA-DE 4 154627424 154627424 single base substitution C T downstream_gene_variant PBCA-DE 4 154628889 154628889 single base substitution T C downstream_gene_variant PBCA-DE 4 154637708 154637708 insertion of <=200bp - T downstream_gene_variant PBCA-DE 4 154637708 154637708 insertion of <=200bp - T intron_variant PBCA-DE 4 154642310 154642310 insertion of <=200bp - T downstream_gene_variant PBCA-DE 4 154642310 154642310 insertion of <=200bp - T intron_variant PBCA-DE 4 154651843 154651843 insertion of <=200bp - A intron_variant PBCA-DE 4 154654097 154654097 single base substitution C T intron_variant PBCA-DE 4 154654145 154654145 single base substitution C T intron_variant PBCA-DE 4 154660482 154660482 single base substitution A C intron_variant PBCA-DE 4 154660729 154660729 single base substitution G T intron_variant PBCA-DE 4 154665895 154665895 insertion of <=200bp - A downstream_gene_variant PBCA-DE 4 154665895 154665895 insertion of <=200bp - A intron_variant PBCA-DE 4 154673672 154673673 deletion of <=200bp TT - intron_variant PBCA-DE 4 154673672 154673673 deletion of <=200bp TT - upstream_gene_variant PBCA-DE 4 154675049 154675049 single base substitution G A intron_variant PRAD-CA 4 154630607 154630607 single base substitution G T downstream_gene_variant PRAD-CA 4 154646694 154646694 single base substitution A C intron_variant PRAD-CA 4 154653615 154653615 single base substitution G T intron_variant PRAD-CA 4 154655104 154655104 single base substitution T C intron_variant PRAD-CA 4 154673717 154673717 single base substitution G T intron_variant PRAD-CA 4 154673717 154673717 single base substitution G T upstream_gene_variant PRAD-UK 4 154627096 154627096 single base substitution G A downstream_gene_variant PRAD-UK 4 154628113 154628113 single base substitution G A downstream_gene_variant PRAD-UK 4 154634545 154634545 single base substitution A C 3_prime_UTR_variant PRAD-UK 4 154634545 154634545 single base substitution A C intron_variant PRAD-UK 4 154634598 154634598 single base substitution C A 3_prime_UTR_variant PRAD-UK 4 154634598 154634598 single base substitution C A intron_variant PRAD-UK 4 154637569 154637569 single base substitution T A downstream_gene_variant PRAD-UK 4 154637569 154637569 single base substitution T A intron_variant PRAD-UK 4 154638172 154638172 single base substitution G A downstream_gene_variant PRAD-UK 4 154638172 154638172 single base substitution G A intron_variant PRAD-UK 4 154645487 154645487 single base substitution C A intron_variant PRAD-UK 4 154649029 154649029 single base substitution T C intron_variant PRAD-UK 4 154655445 154655445 single base substitution A G intron_variant PRAD-UK 4 154662514 154662514 single base substitution G T intron_variant PRAD-UK 4 154668360 154668360 single base substitution G T downstream_gene_variant PRAD-UK 4 154668360 154668360 single base substitution G T intron_variant PRAD-UK 4 154669471 154669474 deletion of <=200bp CCAT - downstream_gene_variant PRAD-UK 4 154669471 154669474 deletion of <=200bp CCAT - intron_variant PRAD-UK 4 154675149 154675149 single base substitution C T intron_variant PRAD-UK 4 154678120 154678120 single base substitution G T intron_variant PRAD-UK 4 154683089 154683089 single base substitution G A upstream_gene_variant PRAD-UK 4 154685159 154685159 single base substitution G T upstream_gene_variant READ-US 4 154626302 154626302 single base substitution G A downstream_gene_variant RECA-EU 4 154635434 154635434 single base substitution C T 3_prime_UTR_variant RECA-EU 4 154635434 154635434 single base substitution C T intron_variant RECA-EU 4 154641609 154641609 single base substitution A T downstream_gene_variant RECA-EU 4 154641609 154641609 single base substitution A T intron_variant RECA-EU 4 154643840 154643840 single base substitution T G downstream_gene_variant RECA-EU 4 154643840 154643840 single base substitution T G intron_variant RECA-EU 4 154645604 154645604 single base substitution C G intron_variant RECA-EU 4 154655823 154655823 single base substitution T C intron_variant RECA-EU 4 154666821 154666821 single base substitution A G downstream_gene_variant RECA-EU 4 154666821 154666821 single base substitution A G intron_variant RECA-EU 4 154666821 154666821 single base substitution A G splice_region_variant RECA-EU 4 154668520 154668520 single base substitution C G downstream_gene_variant RECA-EU 4 154668520 154668520 single base substitution C G intron_variant RECA-EU 4 154673144 154673144 single base substitution G A intron_variant RECA-EU 4 154673144 154673144 single base substitution G A upstream_gene_variant RECA-EU 4 154675333 154675333 single base substitution A G intron_variant RECA-EU 4 154681776 154681776 single base substitution G C upstream_gene_variant SKCA-BR 4 154626734 154626734 single base substitution T G downstream_gene_variant SKCA-BR 4 154627418 154627418 single base substitution C T downstream_gene_variant SKCA-BR 4 154629235 154629235 single base substitution G A downstream_gene_variant SKCA-BR 4 154629236 154629236 single base substitution G A downstream_gene_variant SKCA-BR 4 154631189 154631189 single base substitution T G downstream_gene_variant SKCA-BR 4 154634020 154634020 single base substitution C T downstream_gene_variant SKCA-BR 4 154634020 154634020 single base substitution C T intron_variant SKCA-BR 4 154634491 154634491 single base substitution C T 3_prime_UTR_variant SKCA-BR 4 154634491 154634491 single base substitution C T intron_variant SKCA-BR 4 154637215 154637216 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 4 154637215 154637216 deletion of <=200bp CA - intron_variant SKCA-BR 4 154638021 154638021 single base substitution G A downstream_gene_variant SKCA-BR 4 154638021 154638021 single base substitution G A intron_variant SKCA-BR 4 154638348 154638348 single base substitution C T downstream_gene_variant SKCA-BR 4 154638348 154638348 single base substitution C T intron_variant SKCA-BR 4 154639375 154639386 deletion of <=200bp TTTGTTTGTTTG - downstream_gene_variant SKCA-BR 4 154639375 154639386 deletion of <=200bp TTTGTTTGTTTG - intron_variant SKCA-BR 4 154639379 154639382 deletion of <=200bp TTTG - downstream_gene_variant SKCA-BR 4 154639379 154639382 deletion of <=200bp TTTG - intron_variant SKCA-BR 4 154639593 154639593 single base substitution G A downstream_gene_variant SKCA-BR 4 154639593 154639593 single base substitution G A intron_variant SKCA-BR 4 154640022 154640022 single base substitution C T downstream_gene_variant SKCA-BR 4 154640022 154640022 single base substitution C T intron_variant SKCA-BR 4 154640139 154640139 single base substitution C T downstream_gene_variant SKCA-BR 4 154640139 154640139 single base substitution C T intron_variant SKCA-BR 4 154642473 154642473 single base substitution G A downstream_gene_variant SKCA-BR 4 154642473 154642473 single base substitution G A intron_variant SKCA-BR 4 154643402 154643402 single base substitution G A downstream_gene_variant SKCA-BR 4 154643402 154643402 single base substitution G A intron_variant SKCA-BR 4 154643602 154643602 single base substitution G A downstream_gene_variant SKCA-BR 4 154643602 154643602 single base substitution G A intron_variant SKCA-BR 4 154643749 154643749 single base substitution G A downstream_gene_variant SKCA-BR 4 154643749 154643749 single base substitution G A intron_variant SKCA-BR 4 154648853 154648853 single base substitution G A intron_variant SKCA-BR 4 154649715 154649715 single base substitution C T intron_variant SKCA-BR 4 154652817 154652817 insertion of <=200bp - AAGAG intron_variant SKCA-BR 4 154656019 154656019 single base substitution G A intron_variant SKCA-BR 4 154658957 154658957 single base substitution C T intron_variant SKCA-BR 4 154661579 154661579 single base substitution C T intron_variant SKCA-BR 4 154663424 154663424 insertion of <=200bp - CA intron_variant SKCA-BR 4 154666024 154666024 single base substitution G A downstream_gene_variant SKCA-BR 4 154666024 154666024 single base substitution G A intron_variant SKCA-BR 4 154666435 154666435 single base substitution G A downstream_gene_variant SKCA-BR 4 154666435 154666435 single base substitution G A intron_variant SKCA-BR 4 154667584 154667621 deletion of <=200bp TCCGTAGCTCTCCTAGGCTGGAGTTGCATGCTGCATGC - downstream_gene_variant SKCA-BR 4 154667584 154667621 deletion of <=200bp TCCGTAGCTCTCCTAGGCTGGAGTTGCATGCTGCATGC - intron_variant SKCA-BR 4 154670898 154670898 single base substitution C T intron_variant SKCA-BR 4 154670898 154670898 single base substitution C T upstream_gene_variant SKCA-BR 4 154672157 154672157 single base substitution C T intron_variant SKCA-BR 4 154672157 154672157 single base substitution C T upstream_gene_variant SKCA-BR 4 154672206 154672206 single base substitution G A intron_variant SKCA-BR 4 154672206 154672206 single base substitution G A upstream_gene_variant SKCA-BR 4 154673441 154673441 single base substitution G A intron_variant SKCA-BR 4 154673441 154673441 single base substitution G A upstream_gene_variant SKCA-BR 4 154673568 154673568 single base substitution G A intron_variant SKCA-BR 4 154673568 154673568 single base substitution G A upstream_gene_variant SKCA-BR 4 154675321 154675321 insertion of <=200bp - CA intron_variant SKCA-BR 4 154675963 154675963 single base substitution G A intron_variant SKCA-BR 4 154675987 154675987 single base substitution G A intron_variant SKCA-BR 4 154678086 154678086 single base substitution C T intron_variant SKCA-BR 4 154678087 154678087 single base substitution C T intron_variant SKCA-BR 4 154678363 154678363 single base substitution A C intron_variant SKCA-BR 4 154679806 154679806 single base substitution C T intron_variant SKCA-BR 4 154681446 154681446 single base substitution T G upstream_gene_variant SKCA-BR 4 154682028 154682028 single base substitution C T upstream_gene_variant SKCA-BR 4 154682563 154682563 single base substitution T C upstream_gene_variant SKCA-BR 4 154683524 154683524 single base substitution C T upstream_gene_variant SKCA-BR 4 154684355 154684355 single base substitution C T upstream_gene_variant SKCA-BR 4 154685724 154685724 single base substitution G A upstream_gene_variant SKCM-US 4 154626295 154626295 single base substitution C T downstream_gene_variant SKCM-US 4 154626372 154626372 single base substitution G C downstream_gene_variant SKCM-US 4 154626391 154626391 single base substitution C T downstream_gene_variant SKCM-US 4 154631608 154631608 single base substitution G A downstream_gene_variant SKCM-US 4 154631608 154631608 single base substitution G A synonymous_variant I300I 900C>T SKCM-US 4 154633721 154633721 single base substitution C T 3_prime_UTR_variant SKCM-US 4 154633721 154633721 single base substitution C T downstream_gene_variant SKCM-US 4 154633721 154633721 single base substitution C T missense_variant E258K 772G>A SKCM-US 4 154649358 154649358 single base substitution C T intron_variant SKCM-US 4 154649358 154649358 single base substitution C T splice_donor_variant SKCM-US 4 154649372 154649372 single base substitution C T 3_prime_UTR_variant SKCM-US 4 154649372 154649372 single base substitution C T exon_variant SKCM-US 4 154649372 154649372 single base substitution C T intron_variant SKCM-US 4 154649372 154649372 single base substitution C T missense_variant G130R 388G>A SKCM-US 4 154649372 154649372 single base substitution C T missense_variant G70R 208G>A SKCM-US 4 154649400 154649400 single base substitution G A 3_prime_UTR_variant SKCM-US 4 154649400 154649400 single base substitution G A exon_variant SKCM-US 4 154649400 154649400 single base substitution G A intron_variant SKCM-US 4 154649400 154649400 single base substitution G A synonymous_variant L120L 360C>T SKCM-US 4 154649400 154649400 single base substitution G A synonymous_variant L60L 180C>T SKCM-US 4 154649452 154649452 single base substitution C T 3_prime_UTR_variant SKCM-US 4 154649452 154649452 single base substitution C T exon_variant SKCM-US 4 154649452 154649452 single base substitution C T intron_variant SKCM-US 4 154649452 154649452 single base substitution C T stop_gained W103* 308G>A SKCM-US 4 154649452 154649452 single base substitution C T stop_gained W43* 128G>A SKCM-US 4 154649461 154649461 deletion of <=200bp A - 3_prime_UTR_variant SKCM-US 4 154649461 154649461 deletion of <=200bp A - exon_variant SKCM-US 4 154649461 154649461 deletion of <=200bp A - frameshift_variant L100 SKCM-US 4 154649461 154649461 deletion of <=200bp A - frameshift_variant L40 SKCM-US 4 154649461 154649461 deletion of <=200bp A - intron_variant SKCM-US 4 154649469 154649469 single base substitution C T 3_prime_UTR_variant SKCM-US 4 154649469 154649469 single base substitution C T exon_variant SKCM-US 4 154649469 154649469 single base substitution C T intron_variant SKCM-US 4 154649469 154649469 single base substitution C T synonymous_variant T37T 111G>A SKCM-US 4 154649469 154649469 single base substitution C T synonymous_variant T97T 291G>A SKCM-US 4 154649471 154649471 single base substitution T C 3_prime_UTR_variant SKCM-US 4 154649471 154649471 single base substitution T C exon_variant SKCM-US 4 154649471 154649471 single base substitution T C intron_variant SKCM-US 4 154649471 154649471 single base substitution T C missense_variant T37A 109A>G SKCM-US 4 154649471 154649471 single base substitution T C missense_variant T97A 289A>G SKCM-US 4 154649477 154649477 single base substitution A T 3_prime_UTR_variant SKCM-US 4 154649477 154649477 single base substitution A T exon_variant SKCM-US 4 154649477 154649477 single base substitution A T intron_variant SKCM-US 4 154649477 154649477 single base substitution A T missense_variant Y35N 103T>A SKCM-US 4 154649477 154649477 single base substitution A T missense_variant Y95N 283T>A STAD-US 4 154633709 154633709 single base substitution G A 3_prime_UTR_variant STAD-US 4 154633709 154633709 single base substitution G A downstream_gene_variant STAD-US 4 154633709 154633709 single base substitution G A stop_gained R262* 784C>T STAD-US 4 154636790 154636790 single base substitution T C 3_prime_UTR_variant STAD-US 4 154636790 154636790 single base substitution T C downstream_gene_variant STAD-US 4 154636790 154636790 single base substitution T C missense_variant T219A 655A>G STAD-US 4 154636790 154636790 single base substitution T C missense_variant T91A 271A>G STAD-US 4 154644505 154644505 single base substitution G T downstream_gene_variant STAD-US 4 154644505 154644505 single base substitution G T missense_variant F109L 327C>A STAD-US 4 154644505 154644505 single base substitution G T missense_variant F169L 507C>A STAD-US 4 154644505 154644505 single base substitution G T missense_variant F41L 123C>A STAD-US 4 154644505 154644505 single base substitution G T splice_region_variant STAD-US 4 154649450 154649450 single base substitution G A 3_prime_UTR_variant STAD-US 4 154649450 154649450 single base substitution G A exon_variant STAD-US 4 154649450 154649450 single base substitution G A intron_variant STAD-US 4 154649450 154649450 single base substitution G A missense_variant R104W 310C>T STAD-US 4 154649450 154649450 single base substitution G A missense_variant R44W 130C>T UCEC-US 4 154626316 154626316 single base substitution C T downstream_gene_variant UCEC-US 4 154631573 154631573 single base substitution G T downstream_gene_variant UCEC-US 4 154631573 154631573 single base substitution G T missense_variant P312H 935C>A UCEC-US 4 154636776 154636776 single base substitution C T 3_prime_UTR_variant UCEC-US 4 154636776 154636776 single base substitution C T downstream_gene_variant UCEC-US 4 154636776 154636776 single base substitution C T synonymous_variant S223S 669G>A UCEC-US 4 154636776 154636776 single base substitution C T synonymous_variant S95S 285G>A UCEC-US 4 154636799 154636799 single base substitution G A 3_prime_UTR_variant UCEC-US 4 154636799 154636799 single base substitution G A downstream_gene_variant UCEC-US 4 154636799 154636799 single base substitution G A missense_variant R216W 646C>T UCEC-US 4 154636799 154636799 single base substitution G A missense_variant R88W 262C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A059-01 COSM1052265 c.646C>T p.R216W Substitution - Missense 4:153715647-153715647 - TCGA-AM-5821-01 COSM3760436 c.945A>G p.I315M Substitution - Missense 4:153710411-153710411 - BD114T COSM5502917 c.322A>T p.M108L Substitution - Missense 4:153728286-153728286 - PCSI_0090_Pa_X COSM3380843 c.517G>A p.A173T Substitution - Missense 4:153720297-153720297 - TCGA-D9-A6EC-06 COSM4402714 c.401+1G>A p.? Unknown 4:153728206-153728206 - 545 COSM287497 c.340G>A p.V114I Substitution - Missense 4:153728268-153728268 - CSCC-27-T COSM3128600 c.389G>A p.G130E Substitution - Missense 4:153728219-153728219 - 2218463 COSM4421288 c.595G>A p.E199K Substitution - Missense 4:153720219-153720219 - 415 COSM4421289 c.595G>A p.E199K Substitution - Missense 4:153720219-153720219 - PCSI_0090_Pa_X COSM3380842 c.517G>A p.A173T Substitution - Missense 4:153720297-153720297 - TCGA-ER-A198-06 COSM3601047 c.900C>T p.I300I Substitution - coding silent 4:153710456-153710456 - YULETA COSM3601052 c.360C>T p.L120L Substitution - coding silent 4:153728248-153728248 - TCGA-AP-A059-01 COSM1052263 c.646C>T p.R216W Substitution - Missense 4:153715647-153715647 - TCGA-EE-A2MS-06 COSM3601056 c.283T>A p.Y95N Substitution - Missense 4:153728325-153728325 - 2492722 COSM4394732 c.291G>A p.T97T Substitution - coding silent 4:153728317-153728317 - PT37 COSM5918498 c.913C>T p.R305C Substitution - Missense 4:153710443-153710443 - 587238 COSM1223942 c.661A>C p.S221R Substitution - Missense 4:153715632-153715632 - TCGA-AM-5820-01 COSM3696488 c.156C>T p.H52H Substitution - coding silent 4:153748735-153748735 - KPOPBR-31-T COSM5964000 c.523G>C p.D175H Substitution - Missense 4:153720291-153720291 - PCSI_0300_Pa_P_526 COSM4962588 c.466T>A p.L156M Substitution - Missense 4:153723394-153723394 - TCGA-B5-A0JZ-01 COSM1052266 c.331A>G p.M111V Substitution - Missense 4:153728277-153728277 - 2492720 COSM4394733 c.291G>A p.T97T Substitution - coding silent 4:153728317-153728317 - TCGA-CC-A7IF-01 COSM4915494 c.763G>A p.V255I Substitution - Missense 4:153715530-153715530 - 385 COSM4426980 c.145G>A p.D49N Substitution - Missense 4:153748746-153748746 - SNU-283 COSM3128615 c.136C>T p.R46W Substitution - Missense 4:153748755-153748755 - LUAD-F00282 COSM367368 c.401G>A p.R134Q Substitution - Missense 4:153728207-153728207 - TCGA-FW-A3R5-06 COSM3917274 c.772G>A p.E258K Substitution - Missense 4:153712569-153712569 - TCGA-EE-A29E-06 COSM3601050 c.388G>A p.G130R Substitution - Missense 4:153728220-153728220 - SNUH_G45_S1 COSM3760436 c.945A>G p.I315M Substitution - Missense 4:153710411-153710411 - SNUH_G45_S1 COSM3760435 c.945A>G p.I315M Substitution - Missense 4:153710411-153710411 - 2177 COSM5011352 c.535T>A p.F179I Substitution - Missense 4:153720279-153720279 - CN-AML-08-T COSM3760436 c.945A>G p.I315M Substitution - Missense 4:153710411-153710411 - 2177 COSM5011351 c.535T>A p.F179I Substitution - Missense 4:153720279-153720279 - PT37 COSM5918499 c.913C>T p.R305C Substitution - Missense 4:153710443-153710443 - TCGA-AM-5821-01 COSM3760437 c.921G>C p.L307F Substitution - Missense 4:153710435-153710435 - 2492729 COSM5727859 c.860G>A p.S287N Substitution - Missense 4:153712481-153712481 - 2218463 COSM4421289 c.595G>A p.E199K Substitution - Missense 4:153720219-153720219 - CSCC-27-T COSM3128601 c.389G>A p.G130E Substitution - Missense 4:153728219-153728219 - TCGA-BG-A0VW-01 COSM1052259 c.935C>A p.P312H Substitution - Missense 4:153710421-153710421 - SW948 COSM3128595 c.528C>G p.S176S Substitution - coding silent 4:153720286-153720286 - CSCC-49-T COSM367368 c.401G>A p.R134Q Substitution - Missense 4:153728207-153728207 - TCGA-AG-A002-01 COSM263371 c.742T>G p.Y248D Substitution - Missense 4:153715551-153715551 - C086 COSM3128600 c.389G>A p.G130E Substitution - Missense 4:153728219-153728219 - TCGA-AM-5820-01 COSM3696489 c.156C>T p.H52H Substitution - coding silent 4:153748735-153748735 - SC_9055 COSM5563071 c.278C>G p.P93R Substitution - Missense 4:153728330-153728330 - CHC1725T COSM4800814 c.43G>A p.E15K Substitution - Missense 4:153759820-153759820 - TCGA-CG-4305-01 COSM3128606 c.310C>T p.R104W Substitution - Missense 4:153728298-153728298 - TCGA-HT-8110-01 COSM3974768 c.647G>A p.R216Q Substitution - Missense 4:153715646-153715646 - P01-28 COSM247065 c.875G>A p.R292H Substitution - Missense 4:153710481-153710481 - TCGA-AA-3966-01 COSM273194 c.809delA p.K270fs*13 Deletion - Frameshift 4:153712532-153712532 - TCGA-HU-A4G2-01 COSM4122854 c.784C>T p.R262* Substitution - Nonsense 4:153712557-153712557 - ESCC-D20 COSM5045890 c.521G>C p.R174T Substitution - Missense 4:153720293-153720293 - TCGA-HU-A4G2-01 COSM4122853 c.784C>T p.R262* Substitution - Nonsense 4:153712557-153712557 - T578 COSM4722056 c.378A>G p.K126K Substitution - coding silent 4:153728230-153728230 - TCGA-EE-A29E-06 COSM3601049 c.388G>A p.G130R Substitution - Missense 4:153728220-153728220 - PCSI_0090_Pa_P COSM3380843 c.517G>A p.A173T Substitution - Missense 4:153720297-153720297 - ESCC-D20 COSM5045889 c.521G>C p.R174T Substitution - Missense 4:153720293-153720293 - PT25 COSM5904795 c.507C>T p.F169F Substitution - coding silent 4:153723353-153723353 - SNUH_G10_S1 COSM3760436 c.945A>G p.I315M Substitution - Missense 4:153710411-153710411 - HCT116 COSM3128580 c.665T>C p.L222S Substitution - Missense 4:153715628-153715628 - 2492729 COSM5727858 c.860G>A p.S287N Substitution - Missense 4:153712481-153712481 - CHC1725T COSM4800814 c.43G>A p.E15K Substitution - Missense 4:153759820-153759820 - CN-AML-08-T COSM3760435 c.945A>G p.I315M Substitution - Missense 4:153710411-153710411 - PD11349a COSM5782910 c.952G>T p.V318F Substitution - Missense 4:153710404-153710404 - TCGA-AA-A010-01 COSM284624 c.798C>T p.I266I Substitution - coding silent 4:153712543-153712543 - CN-AML-NR-08-Dx COSM3760435 c.945A>G p.I315M Substitution - Missense 4:153710411-153710411 - 545 COSM241439 c.340G>A p.V114I Substitution - Missense 4:153728268-153728268 - TCGA-EE-A3JD-06 COSM4394732 c.291G>A p.T97T Substitution - coding silent 4:153728317-153728317 - TCGA-AA-A02H-01 COSM287497 c.340G>A p.V114I Substitution - Missense 4:153728268-153728268 - TCGA-AA-3510-01 COSM1428004 c.668C>T p.S223L Substitution - Missense 4:153715625-153715625 - HCC063T COSM5812850 c.739A>T p.T247S Substitution - Missense 4:153715554-153715554 - Pa36X COSM87453 c.411C>A p.Y137* Substitution - Nonsense 4:153723449-153723449 - T3021 COSM4722049 c.742T>C p.Y248H Substitution - Missense 4:153715551-153715551 - TCGA-BG-A0VW-01 COSM1052257 c.935C>A p.P312H Substitution - Missense 4:153710421-153710421 - CHC1725T COSM4800815 c.43G>A p.E15K Substitution - Missense 4:153759820-153759820 - HCC063T COSM5812849 c.739A>T p.T247S Substitution - Missense 4:153715554-153715554 - TCGA-AA-3966-01 COSM273195 c.809delA p.K270fs*13 Deletion - Frameshift 4:153712532-153712532 - TCGA-EE-A29E-06 COSM3601053 c.308G>A p.W103* Substitution - Nonsense 4:153728300-153728300 - PCSI_0300_Pa_P_526 COSM4962589 c.466T>A p.L156M Substitution - Missense 4:153723394-153723394 - WA50 COSM241439 c.340G>A p.V114I Substitution - Missense 4:153728268-153728268 - SW948 COSM3128594 c.528C>G p.S176S Substitution - coding silent 4:153720286-153720286 - 2492720 COSM4394732 c.291G>A p.T97T Substitution - coding silent 4:153728317-153728317 - 2492721 COSM4394732 c.291G>A p.T97T Substitution - coding silent 4:153728317-153728317 - C008 COSM5523704 c.901C>T p.L301L Substitution - coding silent 4:153710455-153710455 - BD114T COSM5502918 c.322A>T p.M108L Substitution - Missense 4:153728286-153728286 - TCGA-HT-8110-01 COSM3974767 c.647G>A p.R216Q Substitution - Missense 4:153715646-153715646 - TCGA-23-2072-01 COSM86834 c.662G>A p.S221N Substitution - Missense 4:153715631-153715631 - TCGA-CC-A7IF-01 COSM4915495 c.763G>A p.V255I Substitution - Missense 4:153715530-153715530 - TCGA-AA-3510-01 COSM1428003 c.668C>T p.S223L Substitution - Missense 4:153715625-153715625 - T2940 COSM4722053 c.652C>T p.P218S Substitution - Missense 4:153715641-153715641 - TCGA-EE-A29E-06 COSM3601054 c.308G>A p.W103* Substitution - Nonsense 4:153728300-153728300 - TCGA-BT-A3PJ-01 COSM3775627 c.236G>C p.R79P Substitution - Missense 4:153748655-153748655 - PD11349a COSM5782909 c.952G>T p.V318F Substitution - Missense 4:153710404-153710404 - SC_9058 COSM1618499 c.14C>T p.T5M Substitution - Missense 4:153759849-153759849 - YULETA COSM3601051 c.360C>T p.L120L Substitution - coding silent 4:153728248-153728248 - TCGA-FW-A3R5-06 COSM3917273 c.772G>A p.E258K Substitution - Missense 4:153712569-153712569 - CHC1725T COSM4800815 c.43G>A p.E15K Substitution - Missense 4:153759820-153759820 - GC1_T COSM3748837 c.397C>T p.P133S Substitution - Missense 4:153728211-153728211 - TCGA-EE-A3JD-06 COSM4394733 c.291G>A p.T97T Substitution - coding silent 4:153728317-153728317 - SNUH_G16_S1 COSM3760436 c.945A>G p.I315M Substitution - Missense 4:153710411-153710411 - I2L-P7-Tumor-Organoid COSM5356218 c.539G>A p.G180D Substitution - Missense 4:153720275-153720275 - TCGA-AA-A00O-01 COSM298929 c.338C>A p.S113Y Substitution - Missense 4:153728270-153728270 - TCGA-DA-A1I1-06 COSM3601051 c.360C>T p.L120L Substitution - coding silent 4:153728248-153728248 - T3021 COSM4722050 c.742T>C p.Y248H Substitution - Missense 4:153715551-153715551 - SNU-283 COSM3128614 c.136C>T p.R46W Substitution - Missense 4:153748755-153748755 - RK308_C01 COSM3767741 c.28G>C p.A10P Substitution - Missense 4:153759835-153759835 - LUAD-F00282 COSM367367 c.401G>A p.R134Q Substitution - Missense 4:153728207-153728207 - PT42 COSM4330216 c.764+5C>T p.? Unknown 4:153715524-153715524 - Sample_1 COSM5021456 c.765-6C>G p.? Unknown 4:153712582-153712582 - RK308_C01 COSM3767742 c.28G>C p.A10P Substitution - Missense 4:153759835-153759835 - TCGA-AA-A02H-01 COSM241439 c.340G>A p.V114I Substitution - Missense 4:153728268-153728268 - 2492722 COSM4394733 c.291G>A p.T97T Substitution - coding silent 4:153728317-153728317 - SNUH_G26_S1 COSM3760435 c.945A>G p.I315M Substitution - Missense 4:153710411-153710411 - 49M COSM5592909 c.579G>A p.M193I Substitution - Missense 4:153720235-153720235 - TCGA-EE-A2MS-06 COSM3601055 c.283T>A p.Y95N Substitution - Missense 4:153728325-153728325 - 12-P4072 COSM4584851 c.799G>C p.V267L Substitution - Missense 4:153712542-153712542 - 587238 COSM1223943 c.661A>C p.S221R Substitution - Missense 4:153715632-153715632 - PT42 COSM4330215 c.764+5C>T p.? Unknown 4:153715524-153715524 - HCT116 COSM3128581 c.665T>C p.L222S Substitution - Missense 4:153715628-153715628 - 49M COSM5592908 c.579G>A p.M193I Substitution - Missense 4:153720235-153720235 - TCGA-B5-A0JZ-01 COSM1052268 c.331A>G p.M111V Substitution - Missense 4:153728277-153728277 - PT25 COSM5904794 c.507C>T p.F169F Substitution - coding silent 4:153723353-153723353 - TCGA-AA-A010-01 COSM284623 c.798C>T p.I266I Substitution - coding silent 4:153712543-153712543 - 385 COSM4426981 c.145G>A p.D49N Substitution - Missense 4:153748746-153748746 - TCGA-A5-A0GP-01 COSM1052262 c.669G>A p.S223S Substitution - coding silent 4:153715624-153715624 - CN-AML-NR-08-Dx COSM3760436 c.945A>G p.I315M Substitution - Missense 4:153710411-153710411 - I2L-P7-Tumor-Organoid COSM5356219 c.539G>A p.G180D Substitution - Missense 4:153720275-153720275 - TCGA-DD-A3A7-01 COSM241439 c.340G>A p.V114I Substitution - Missense 4:153728268-153728268 - TCGA-D9-A6EC-06 COSM4404016 c.289A>G p.T97A Substitution - Missense 4:153728319-153728319 - TCGA-A5-A0GP-01 COSM1052260 c.669G>A p.S223S Substitution - coding silent 4:153715624-153715624 - TCGA-CG-4466-01 COSM4122858 c.507C>A p.F169L Substitution - Missense 4:153723353-153723353 - TCGA-AA-A00O-01 COSM298928 c.338C>A p.S113Y Substitution - Missense 4:153728270-153728270 - 2492723 COSM4394732 c.291G>A p.T97T Substitution - coding silent 4:153728317-153728317 - TCGA-DA-A1I1-06 COSM3601052 c.360C>T p.L120L Substitution - coding silent 4:153728248-153728248 - T2940 COSM4722052 c.652C>T p.P218S Substitution - Missense 4:153715641-153715641 - 2492721 COSM4394733 c.291G>A p.T97T Substitution - coding silent 4:153728317-153728317 - HCC119T COSM1618498 c.14C>T p.T5M Substitution - Missense 4:153759849-153759849 - TCGA-AM-5821-01 COSM3760435 c.945A>G p.I315M Substitution - Missense 4:153710411-153710411 - 3206A7_019_T COSM5040845 c.748C>G p.L250V Substitution - Missense 4:153715545-153715545 - 12-P4072 COSM4584852 c.799G>C p.V267L Substitution - Missense 4:153712542-153712542 - C008 COSM5523703 c.901C>T p.L301L Substitution - coding silent 4:153710455-153710455 - TCGA-ER-A198-06 COSM3601048 c.900C>T p.I300I Substitution - coding silent 4:153710456-153710456 - GC1_T COSM3748838 c.397C>T p.P133S Substitution - Missense 4:153728211-153728211 - 19 COSM5746372 c.575T>C p.V192A Substitution - Missense 4:153720239-153720239 - 415 COSM4421288 c.595G>A p.E199K Substitution - Missense 4:153720219-153720219 - PCSI_0090_Pa_P COSM3380842 c.517G>A p.A173T Substitution - Missense 4:153720297-153720297 - P01-28 COSM247066 c.875G>A p.R292H Substitution - Missense 4:153710481-153710481 - HN_63021 COSM125895 c.333G>T p.M111I Substitution - Missense 4:153728275-153728275 - SNUH_G26_S1 COSM3760436 c.945A>G p.I315M Substitution - Missense 4:153710411-153710411 - CSCC-49-T COSM367367 c.401G>A p.R134Q Substitution - Missense 4:153728207-153728207 - T578 COSM4722055 c.378A>G p.K126K Substitution - coding silent 4:153728230-153728230 - TCGA-DD-A3A7-01 COSM287497 c.340G>A p.V114I Substitution - Missense 4:153728268-153728268 - PR-05-3595 COSM247063 c.799G>A p.V267I Substitution - Missense 4:153712542-153712542 - SNUH_G16_S1 COSM3760435 c.945A>G p.I315M Substitution - Missense 4:153710411-153710411 - SC_9055 COSM5563070 c.278C>G p.P93R Substitution - Missense 4:153728330-153728330 - TCGA-D9-A6EC-06 COSM4404017 c.289A>G p.T97A Substitution - Missense 4:153728319-153728319 - 19 COSM5746373 c.575T>C p.V192A Substitution - Missense 4:153720239-153720239 - TCGA-AM-5821-01 COSM3760438 c.921G>C p.L307F Substitution - Missense 4:153710435-153710435 - Sample_1 COSM5021455 c.765-6C>G p.? Unknown 4:153712582-153712582 - TCGA-BT-A3PJ-01 COSM3775626 c.236G>C p.R79P Substitution - Missense 4:153748655-153748655 - TCGA-CG-5721-01 COSM4122855 c.655A>G p.T219A Substitution - Missense 4:153715638-153715638 - KPOPBR-31-T COSM5964001 c.523G>C p.D175H Substitution - Missense 4:153720291-153720291 - 2492723 COSM4394733 c.291G>A p.T97T Substitution - coding silent 4:153728317-153728317 - TCGA-CG-4305-01 COSM3128607 c.310C>T p.R104W Substitution - Missense 4:153728298-153728298 - TCGA-AG-A002-01 COSM263372 c.742T>G p.Y248D Substitution - Missense 4:153715551-153715551 - HCC119T COSM1618499 c.14C>T p.T5M Substitution - Missense 4:153759849-153759849 - TCGA-D9-A6EC-06 COSM4402713 c.401+1G>A p.? Unknown 4:153728206-153728206 - TCGA-CG-4466-01 COSM4122859 c.507C>A p.F169L Substitution - Missense 4:153723353-153723353 - TCGA-CG-5721-01 COSM4122856 c.655A>G p.T219A Substitution - Missense 4:153715638-153715638 - PR-05-3595 COSM247064 c.799G>A p.V267I Substitution - Missense 4:153712542-153712542 - C086 COSM3128601 c.389G>A p.G130E Substitution - Missense 4:153728219-153728219 - 3206A7_019_T COSM5040846 c.748C>G p.L250V Substitution - Missense 4:153715545-153715545 - SC_9058 COSM1618498 c.14C>T p.T5M Substitution - Missense 4:153759849-153759849 - SNUH_G10_S1 COSM3760435 c.945A>G p.I315M Substitution - Missense 4:153710411-153710411 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.388364 4q31.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.L100Yfs*43 c.299delT 4 154649461 CM A G 3-UTRSNV . c.984+121T>C 4 154631403 MM A G Synonymous p.I65I c.195T>C 4 154669848 BRCA A T 3-UTRSNV . c.984+62T>A 4 154631462 MM A T Missense p.Y95N c.283T>A 4 154649477 CM C A Missense p.M111I c.333G>T 4 154649427 HNSC C A Missense p.M55I c.165G>T 4 154669878 STAD C A Nonsense p.Y137* c.411C>A 4 154644601 PAAD C G Missense p.G110R c.328G>C 4 154649432 LUAD C G Missense p.R79P c.236G>C 4 154669807 BLCA C G Missense p.W290S c.869G>C 4 154631639 LUAD C T IntronicSNV . c.764+16G>A 4 154636665 CM C T Missense p.G191E c.572G>A 4 154641394 CM C T Missense p.S221N c.662G>A 4 154636783 OV C T Missense p.V114I c.340G>A 4 154649420 COREAD C T Synonymous p.S223S c.669G>A 4 154636776 UCEC C T Synonymous p.T97T c.291G>A 4 154649469 CM G A IntronicSNV . c.510-23C>T 4 154641479 CM G A Missense p.R104W c.310C>T 4 154649450 STAD G A Missense p.S113F c.338C>T 4 154649422 CM G A Nonsense p.R125* c.373C>T 4 154649387 CM G A Synonymous p.I300I c.900C>T 4 154631608 CM G A Synonymous p.L120L c.360C>T 4 154649400 CM G A Synonymous p.N35N c.105C>T 4 154669938 STAD G C Missense p.A198G c.593C>G 4 154641373 LUAD G T Missense p.F169L c.507C>A 4 154644505 STAD G T Missense p.P312H c.935C>A 4 154631573 UCEC G T Missense p.S113Y c.338C>A 4 154649422 COREAD T C Missense p.R122G c.364A>G 4 154649396 HNSC