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 2 203748982 203748982 + Silent SNP A A G TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr2:203748982A>G c.927T>C c.(925-927)tgT>tgC p.C309C BLCA 2 203765749 203765749 + Splice_Site SNP G G A TCGA-GD-A2C5-01A-12D-A17V-08 TCGA-GD-A2C5-10A-01D-A17V-08 g.chr2:203765749G>A c.230C>T c.(229-231)tCa>tTa p.S77L BRCA 2 203747488 203747488 + Nonsense_Mutation SNP A A T TCGA-OL-A5RW-01A-11D-A28B-09 TCGA-OL-A5RW-10A-01D-A28E-09 g.chr2:203747488A>T c.1140T>A c.(1138-1140)taT>taA p.Y380* CESC 2 203748344 203748344 + Missense_Mutation SNP C C A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 g.chr2:203748344C>A c.1109G>T c.(1108-1110)tGg>tTg p.W370L CHOL 2 203748929 203748929 + Missense_Mutation SNP C C T TCGA-YR-A95A-01A-12D-A417-09 TCGA-YR-A95A-10A-01D-A41A-09 g.chr2:203748929C>T c.980G>A c.(979-981)cGa>cAa p.R327Q COAD 2 203759314 203759314 + Silent SNP G G T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr2:203759314G>T c.645C>A c.(643-645)atC>atA p.I215I COAD 2 203760821 203760821 + Silent SNP T T C TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr2:203760821T>C c.576A>G c.(574-576)gtA>gtG p.V192V COAD 2 203764338 203764338 + Missense_Mutation SNP T T C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr2:203764338T>C c.254A>G c.(253-255)tAc>tGc p.Y85C COADREAD 2 203759314 203759314 + Silent SNP G G T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr2:203759314G>T c.645C>A c.(643-645)atC>atA p.I215I COADREAD 2 203760821 203760821 + Silent SNP T T C TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr2:203760821T>C c.576A>G c.(574-576)gtA>gtG p.V192V COADREAD 2 203764338 203764338 + Missense_Mutation SNP T T C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr2:203764338T>C c.254A>G c.(253-255)tAc>tGc p.Y85C ESCA 2 203745605 203745605 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 g.chr2:203745605G>A c.1250C>T c.(1249-1251)aCc>aTc p.T417I GBMLGG 2 203760929 203760929 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:203760929G>A c.468C>T c.(466-468)tgC>tgT p.C156C GBMLGG 2 203772675 203772675 + Missense_Mutation SNP C C T TCGA-S9-A7IQ-01A-21D-A34A-08 TCGA-S9-A7IQ-10A-01D-A34A-08 g.chr2:203772675C>T c.49G>A c.(49-51)Gta>Ata p.V17I HNSC 2 203745631 203745631 + Silent SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 g.chr2:203745631T>C c.1224A>G c.(1222-1224)aaA>aaG p.K408K HNSC 2 203747437 203747437 + Silent SNP T T C TCGA-CV-7242-01A-11D-2012-08 TCGA-CV-7242-10A-01D-2013-08 g.chr2:203747437T>C c.1191A>G c.(1189-1191)acA>acG p.T397T HNSC 2 203748374 203748374 + Missense_Mutation SNP G G A TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr2:203748374G>A c.1079C>T c.(1078-1080)tCa>tTa p.S360L HNSC 2 203748997 203748997 + Silent SNP G G A TCGA-P3-A6T4-01A-11D-A34J-08 TCGA-P3-A6T4-10A-01D-A34M-08 g.chr2:203748997G>A c.912C>T c.(910-912)tcC>tcT p.S304S HNSC 2 203760839 203760839 + Missense_Mutation SNP T T A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 g.chr2:203760839T>A c.558A>T c.(556-558)agA>agT p.R186S HNSC 2 203764342 203764342 + Missense_Mutation SNP C C G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 g.chr2:203764342C>G c.250G>C c.(250-252)Gaa>Caa p.E84Q HNSC 2 203772641 203772641 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 g.chr2:203772641G>C c.83C>G c.(82-84)tCt>tGt p.S28C HNSC 2 203776182 203776182 + 5'Flank SNP T T A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr2:203776182T>A KIPAN 2 203762106 203762106 + Missense_Mutation SNP C C T TCGA-J7-6720-01A-11D-2136-08 TCGA-J7-6720-10A-01D-2136-08 g.chr2:203762106C>T c.371G>A c.(370-372)cGg>cAg p.R124Q KIRP 2 203762106 203762106 + Missense_Mutation SNP C C T TCGA-J7-6720-01A-11D-2136-08 TCGA-J7-6720-10A-01D-2136-08 g.chr2:203762106C>T c.371G>A c.(370-372)cGg>cAg p.R124Q LGG 2 203760929 203760929 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:203760929G>A c.468C>T c.(466-468)tgC>tgT p.C156C LGG 2 203772675 203772675 + Missense_Mutation SNP C C T TCGA-S9-A7IQ-01A-21D-A34A-08 TCGA-S9-A7IQ-10A-01D-A34A-08 g.chr2:203772675C>T c.49G>A c.(49-51)Gta>Ata p.V17I LIHC 2 203765765 203765765 + Missense_Mutation SNP T T C TCGA-UB-AA0U-01A-11D-A382-10 TCGA-UB-AA0U-10A-01D-A385-10 g.chr2:203765765T>C c.214A>G c.(214-216)Atg>Gtg p.M72V LUAD 2 203745650 203745650 + Missense_Mutation SNP C C A TCGA-99-8025-01A-11D-2238-08 TCGA-99-8025-10A-01D-2238-08 g.chr2:203745650C>A c.1205G>T c.(1204-1206)aGt>aTt p.S402I LUAD 2 203764280 203764280 + Silent SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 g.chr2:203764280G>A c.312C>T c.(310-312)atC>atT p.I104I LUAD 2 203765834 203765834 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr2:203765834T>C c.145A>G c.(145-147)Aaa>Gaa p.K49E LUAD 2 203776157 203776157 + 5'Flank SNP A A G TCGA-91-6836-01A-21D-1855-08 TCGA-91-6836-11A-01D-1855-08 g.chr2:203776157A>G LUSC 2 203748393 203748393 + Missense_Mutation SNP G G A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 g.chr2:203748393G>A c.1060C>T c.(1060-1062)Cat>Tat p.H354Y LUSC 2 203760895 203760895 + Missense_Mutation SNP G G C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr2:203760895G>C c.502C>G c.(502-504)Ctc>Gtc p.L168V LUSC 2 203762032 203762032 + Missense_Mutation SNP C C A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 g.chr2:203762032C>A c.445G>T c.(445-447)Gtg>Ttg p.V149L PRAD 2 203760881 203760881 + Nonsense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:203760881C>T c.516G>A c.(514-516)tgG>tgA p.W172* SKCM 2 203748933 203748933 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr2:203748933G>A c.976C>T c.(976-978)Ccc>Tcc p.P326S SKCM 2 203759326 203759326 + Silent SNP C C T TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr2:203759326C>T c.633G>A c.(631-633)aaG>aaA p.K211K SKCM 2 203762097 203762097 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr2:203762097G>A c.380C>T c.(379-381)tCc>tTc p.S127F SKCM 2 203762100 203762100 + Missense_Mutation SNP C C A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 g.chr2:203762100C>A c.377G>T c.(376-378)tGg>tTg p.W126L SKCM 2 203764284 203764284 + Missense_Mutation SNP C C A TCGA-ER-A19B-06A-11D-A196-08 TCGA-ER-A19B-10A-01D-A198-08 g.chr2:203764284C>A c.308G>T c.(307-309)tGg>tTg p.W103L SKCM 2 203765755 203765755 + Missense_Mutation SNP A A G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr2:203765755A>G c.224T>C c.(223-225)aTc>aCc p.I75T

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 2 203772587 203772587 single base substitution C A splice_donor_variant BLCA-US 2 203765749 203765749 single base substitution G A missense_variant S77L 230C>T BLCA-US 2 203765749 203765749 single base substitution G A splice_region_variant BLCA-US 2 203825996 203825996 single base substitution G C intron_variant BLCA-US 2 203826043 203826043 single base substitution G A intron_variant BLCA-US 2 203831743 203831743 single base substitution G A intron_variant BLCA-US 2 203831746 203831746 single base substitution A G intron_variant BLCA-US 2 203839184 203839184 single base substitution G A intron_variant BLCA-US 2 203842024 203842024 single base substitution C G intron_variant BLCA-US 2 203847053 203847053 single base substitution G C intron_variant BOCA-FR 2 203882566 203882566 single base substitution C T upstream_gene_variant BRCA-EU 2 203735566 203735566 single base substitution G A downstream_gene_variant BRCA-EU 2 203736592 203736592 single base substitution C G downstream_gene_variant BRCA-EU 2 203737028 203737028 single base substitution G A downstream_gene_variant BRCA-EU 2 203737195 203737195 single base substitution C T downstream_gene_variant BRCA-EU 2 203737741 203737741 single base substitution G T downstream_gene_variant BRCA-EU 2 203738224 203738224 single base substitution C T downstream_gene_variant BRCA-EU 2 203740994 203740994 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 203740994 203740994 single base substitution C T downstream_gene_variant BRCA-EU 2 203741884 203741884 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 203741884 203741884 single base substitution C G downstream_gene_variant BRCA-EU 2 203742140 203742140 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 203742140 203742140 single base substitution G C downstream_gene_variant BRCA-EU 2 203742372 203742372 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 203742372 203742372 single base substitution G A downstream_gene_variant BRCA-EU 2 203743085 203743085 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 203743085 203743085 single base substitution C T downstream_gene_variant BRCA-EU 2 203743996 203743996 single base substitution C A 3_prime_UTR_variant BRCA-EU 2 203743996 203743996 single base substitution C A downstream_gene_variant BRCA-EU 2 203744769 203744769 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 2 203744769 203744769 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 203745732 203745732 single base substitution A T downstream_gene_variant BRCA-EU 2 203745732 203745732 single base substitution A T intron_variant BRCA-EU 2 203746568 203746568 single base substitution T C downstream_gene_variant BRCA-EU 2 203746568 203746568 single base substitution T C intron_variant BRCA-EU 2 203749060 203749060 single base substitution T G exon_variant BRCA-EU 2 203749060 203749060 single base substitution T G intron_variant BRCA-EU 2 203749060 203749060 single base substitution T G upstream_gene_variant BRCA-EU 2 203749494 203749494 single base substitution G C intron_variant BRCA-EU 2 203749494 203749494 single base substitution G C upstream_gene_variant BRCA-EU 2 203750432 203750432 single base substitution G C intron_variant BRCA-EU 2 203750432 203750432 single base substitution G C upstream_gene_variant BRCA-EU 2 203750862 203750862 single base substitution G C intron_variant BRCA-EU 2 203750862 203750862 single base substitution G C upstream_gene_variant BRCA-EU 2 203753191 203753191 single base substitution A T intron_variant BRCA-EU 2 203753191 203753191 single base substitution A T upstream_gene_variant BRCA-EU 2 203754217 203754217 deletion of <=200bp A - intron_variant BRCA-EU 2 203754217 203754217 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 203755328 203755328 deletion of <=200bp A - intron_variant BRCA-EU 2 203756649 203756649 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 203756649 203756649 deletion of <=200bp A - intron_variant BRCA-EU 2 203756785 203756785 single base substitution A G downstream_gene_variant BRCA-EU 2 203756785 203756785 single base substitution A G intron_variant BRCA-EU 2 203757705 203757705 single base substitution C G downstream_gene_variant BRCA-EU 2 203757705 203757705 single base substitution C G intron_variant BRCA-EU 2 203757705 203757705 single base substitution C G upstream_gene_variant BRCA-EU 2 203762114 203762114 single base substitution C T downstream_gene_variant BRCA-EU 2 203762114 203762114 single base substitution C T exon_variant BRCA-EU 2 203762114 203762114 single base substitution C T synonymous_variant K121K 363G>A BRCA-EU 2 203762114 203762114 single base substitution C T upstream_gene_variant BRCA-EU 2 203762892 203762892 single base substitution G C downstream_gene_variant BRCA-EU 2 203762892 203762892 single base substitution G C intron_variant BRCA-EU 2 203762892 203762892 single base substitution G C upstream_gene_variant BRCA-EU 2 203763471 203763471 single base substitution G A downstream_gene_variant BRCA-EU 2 203763471 203763471 single base substitution G A intron_variant BRCA-EU 2 203763471 203763471 single base substitution G A upstream_gene_variant BRCA-EU 2 203764742 203764742 deletion of <=200bp G - intron_variant BRCA-EU 2 203766776 203766776 single base substitution G C intron_variant BRCA-EU 2 203766776 203766776 single base substitution G C upstream_gene_variant BRCA-EU 2 203766823 203766823 deletion of <=200bp G - intron_variant BRCA-EU 2 203766823 203766823 deletion of <=200bp G - upstream_gene_variant BRCA-EU 2 203768627 203768627 single base substitution G A intron_variant BRCA-EU 2 203768627 203768627 single base substitution G A upstream_gene_variant BRCA-EU 2 203770327 203770327 single base substitution C T intron_variant BRCA-EU 2 203770327 203770327 single base substitution C T upstream_gene_variant BRCA-EU 2 203770386 203770386 single base substitution C G intron_variant BRCA-EU 2 203770386 203770386 single base substitution C G upstream_gene_variant BRCA-EU 2 203770425 203770425 single base substitution G T intron_variant BRCA-EU 2 203770425 203770425 single base substitution G T upstream_gene_variant BRCA-EU 2 203770629 203770629 single base substitution T C intron_variant BRCA-EU 2 203770629 203770629 single base substitution T C upstream_gene_variant BRCA-EU 2 203776406 203776406 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 2 203776406 203776406 single base substitution G A intron_variant BRCA-EU 2 203779401 203779401 single base substitution C T intron_variant BRCA-EU 2 203779401 203779401 single base substitution C T upstream_gene_variant BRCA-EU 2 203779779 203779779 single base substitution C T intron_variant BRCA-EU 2 203779779 203779779 single base substitution C T upstream_gene_variant BRCA-EU 2 203780876 203780876 single base substitution T C intron_variant BRCA-EU 2 203780876 203780876 single base substitution T C upstream_gene_variant BRCA-EU 2 203781071 203781071 deletion of <=200bp C - intron_variant BRCA-EU 2 203781071 203781071 deletion of <=200bp C - upstream_gene_variant BRCA-EU 2 203781090 203781090 single base substitution G C intron_variant BRCA-EU 2 203781090 203781090 single base substitution G C upstream_gene_variant BRCA-EU 2 203781102 203781102 single base substitution C A intron_variant BRCA-EU 2 203781102 203781102 single base substitution C A upstream_gene_variant BRCA-EU 2 203781380 203781382 deletion of <=200bp AAT - intron_variant BRCA-EU 2 203781380 203781382 deletion of <=200bp AAT - upstream_gene_variant BRCA-EU 2 203781445 203781445 deletion of <=200bp T - intron_variant BRCA-EU 2 203781445 203781445 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 203782268 203782268 single base substitution T C intron_variant BRCA-EU 2 203782771 203782771 deletion of <=200bp T - intron_variant BRCA-EU 2 203783087 203783087 deletion of <=200bp A - intron_variant BRCA-EU 2 203783532 203783532 single base substitution T C intron_variant BRCA-EU 2 203784312 203784312 single base substitution C T intron_variant BRCA-EU 2 203787716 203787716 single base substitution G A intron_variant BRCA-EU 2 203788069 203788069 single base substitution G T intron_variant BRCA-EU 2 203788110 203788110 deletion of <=200bp A - intron_variant BRCA-EU 2 203788338 203788338 insertion of <=200bp - A intron_variant BRCA-EU 2 203788563 203788563 single base substitution A T intron_variant BRCA-EU 2 203790713 203790713 single base substitution G T intron_variant BRCA-EU 2 203791519 203791519 single base substitution C G intron_variant BRCA-EU 2 203791824 203791824 single base substitution C T intron_variant BRCA-EU 2 203793827 203793827 single base substitution C G intron_variant BRCA-EU 2 203795411 203795411 single base substitution G C intron_variant BRCA-EU 2 203795460 203795460 single base substitution A C intron_variant BRCA-EU 2 203795477 203795477 single base substitution G C intron_variant BRCA-EU 2 203797085 203797085 single base substitution C T intron_variant BRCA-EU 2 203798485 203798485 single base substitution G A intron_variant BRCA-EU 2 203799278 203799278 single base substitution C G intron_variant BRCA-EU 2 203799353 203799353 single base substitution G T intron_variant BRCA-EU 2 203804442 203804442 single base substitution C T intron_variant BRCA-EU 2 203804888 203804888 single base substitution T C intron_variant BRCA-EU 2 203805451 203805451 single base substitution G C intron_variant BRCA-EU 2 203806967 203806967 single base substitution G C intron_variant BRCA-EU 2 203807314 203807314 single base substitution T G intron_variant BRCA-EU 2 203809856 203809856 single base substitution T G intron_variant BRCA-EU 2 203810539 203810539 single base substitution G C intron_variant BRCA-EU 2 203810772 203810772 single base substitution T A intron_variant BRCA-EU 2 203811711 203811711 single base substitution G A intron_variant BRCA-EU 2 203812159 203812159 single base substitution T A intron_variant BRCA-EU 2 203813414 203813414 single base substitution G C intron_variant BRCA-EU 2 203813588 203813588 single base substitution C T intron_variant BRCA-EU 2 203813604 203813604 single base substitution A G intron_variant BRCA-EU 2 203813619 203813619 single base substitution G A intron_variant BRCA-EU 2 203814079 203814079 single base substitution A G intron_variant BRCA-EU 2 203814961 203814961 single base substitution A G intron_variant BRCA-EU 2 203815690 203815690 single base substitution G A intron_variant BRCA-EU 2 203815779 203815779 deletion of <=200bp T - intron_variant BRCA-EU 2 203817766 203817766 single base substitution G T intron_variant BRCA-EU 2 203818145 203818145 single base substitution G C intron_variant BRCA-EU 2 203820486 203820486 single base substitution G C intron_variant BRCA-EU 2 203823470 203823470 single base substitution A G intron_variant BRCA-EU 2 203823853 203823853 single base substitution A T intron_variant BRCA-EU 2 203824993 203824993 single base substitution G C intron_variant BRCA-EU 2 203825510 203825510 single base substitution C T intron_variant BRCA-EU 2 203826780 203826780 single base substitution A G intron_variant BRCA-EU 2 203830759 203830759 single base substitution G T intron_variant BRCA-EU 2 203833342 203833342 single base substitution A G intron_variant BRCA-EU 2 203835421 203835421 single base substitution G A intron_variant BRCA-EU 2 203837067 203837067 single base substitution G C intron_variant BRCA-EU 2 203837659 203837659 insertion of <=200bp - T intron_variant BRCA-EU 2 203837783 203837783 single base substitution G A intron_variant BRCA-EU 2 203838043 203838043 single base substitution A C intron_variant BRCA-EU 2 203838668 203838668 single base substitution G A intron_variant BRCA-EU 2 203838721 203838721 single base substitution G A intron_variant BRCA-EU 2 203839136 203839136 single base substitution G A intron_variant BRCA-EU 2 203840208 203840208 single base substitution T A intron_variant BRCA-EU 2 203840710 203840710 single base substitution G A intron_variant BRCA-EU 2 203841617 203841617 single base substitution G C intron_variant BRCA-EU 2 203842519 203842519 single base substitution C G intron_variant BRCA-EU 2 203843626 203843626 single base substitution A C intron_variant BRCA-EU 2 203844708 203844708 single base substitution T A intron_variant BRCA-EU 2 203846377 203846377 single base substitution C A intron_variant BRCA-EU 2 203846400 203846400 single base substitution C A intron_variant BRCA-EU 2 203846545 203846545 single base substitution G A intron_variant BRCA-EU 2 203847855 203847855 single base substitution C A intron_variant BRCA-EU 2 203848363 203848363 single base substitution C T intron_variant BRCA-EU 2 203848524 203848524 single base substitution G C intron_variant BRCA-EU 2 203850782 203850782 single base substitution G C intron_variant BRCA-EU 2 203851754 203851754 single base substitution T C intron_variant BRCA-EU 2 203853256 203853256 single base substitution C T intron_variant BRCA-EU 2 203853678 203853678 deletion of <=200bp T - intron_variant BRCA-EU 2 203854217 203854217 single base substitution C G intron_variant BRCA-EU 2 203854378 203854378 single base substitution C G intron_variant BRCA-EU 2 203857787 203857787 single base substitution G A intron_variant BRCA-EU 2 203857981 203857981 single base substitution A T intron_variant BRCA-EU 2 203858521 203858521 deletion of <=200bp T - intron_variant BRCA-EU 2 203862265 203862265 single base substitution A T intron_variant BRCA-EU 2 203863448 203863448 single base substitution C A intron_variant BRCA-EU 2 203864273 203864273 single base substitution A T intron_variant BRCA-EU 2 203865841 203865841 single base substitution A G intron_variant BRCA-EU 2 203865979 203865979 single base substitution G T intron_variant BRCA-EU 2 203866495 203866495 single base substitution C T intron_variant BRCA-EU 2 203866584 203866584 single base substitution C T intron_variant BRCA-EU 2 203869384 203869384 single base substitution C T intron_variant BRCA-EU 2 203869425 203869425 deletion of <=200bp A - intron_variant BRCA-EU 2 203870025 203870025 insertion of <=200bp - A intron_variant BRCA-EU 2 203870851 203870851 single base substitution C A intron_variant BRCA-EU 2 203870928 203870928 single base substitution C G intron_variant BRCA-EU 2 203870940 203870940 deletion of <=200bp T - intron_variant BRCA-EU 2 203871036 203871036 single base substitution G T intron_variant BRCA-EU 2 203871243 203871243 single base substitution G C intron_variant BRCA-EU 2 203871800 203871800 single base substitution C T intron_variant BRCA-EU 2 203872520 203872520 single base substitution G C intron_variant BRCA-EU 2 203872552 203872552 deletion of <=200bp T - intron_variant BRCA-EU 2 203873106 203873106 single base substitution G T intron_variant BRCA-EU 2 203873442 203873442 single base substitution C G intron_variant BRCA-EU 2 203874215 203874215 single base substitution C G intron_variant BRCA-EU 2 203874741 203874741 single base substitution C T intron_variant BRCA-EU 2 203876919 203876919 single base substitution C G intron_variant BRCA-EU 2 203877161 203877161 single base substitution G C intron_variant BRCA-EU 2 203877452 203877452 single base substitution C T intron_variant BRCA-EU 2 203877713 203877713 single base substitution T G intron_variant BRCA-EU 2 203878381 203878381 single base substitution A C intron_variant BRCA-EU 2 203879386 203879386 single base substitution C G exon_variant BRCA-EU 2 203881585 203881585 single base substitution C T upstream_gene_variant BRCA-EU 2 203884353 203884353 single base substitution G C upstream_gene_variant BRCA-FR 2 203754716 203754716 single base substitution G A intron_variant BRCA-FR 2 203755616 203755616 single base substitution T C intron_variant BRCA-FR 2 203757705 203757705 single base substitution C G downstream_gene_variant BRCA-FR 2 203757705 203757705 single base substitution C G intron_variant BRCA-FR 2 203757705 203757705 single base substitution C G upstream_gene_variant BRCA-FR 2 203766776 203766776 single base substitution G C intron_variant BRCA-FR 2 203766776 203766776 single base substitution G C upstream_gene_variant BRCA-FR 2 203768338 203768338 single base substitution A C intron_variant BRCA-FR 2 203768338 203768338 single base substitution A C upstream_gene_variant BRCA-FR 2 203776592 203776592 single base substitution G C 5_prime_UTR_variant BRCA-FR 2 203776592 203776592 single base substitution G C intron_variant BRCA-FR 2 203781090 203781090 single base substitution G C intron_variant BRCA-FR 2 203781090 203781090 single base substitution G C upstream_gene_variant BRCA-FR 2 203787716 203787716 single base substitution G A intron_variant BRCA-FR 2 203788069 203788069 single base substitution G T intron_variant BRCA-FR 2 203795411 203795411 single base substitution G C intron_variant BRCA-FR 2 203811216 203811216 single base substitution A T intron_variant BRCA-FR 2 203811711 203811711 single base substitution G A intron_variant BRCA-FR 2 203811985 203811985 single base substitution G T intron_variant BRCA-FR 2 203829021 203829021 single base substitution G A intron_variant BRCA-FR 2 203838721 203838721 single base substitution G A intron_variant BRCA-FR 2 203839136 203839136 single base substitution G A intron_variant BRCA-FR 2 203842519 203842519 single base substitution C G intron_variant BRCA-FR 2 203847855 203847855 single base substitution C A intron_variant BRCA-FR 2 203854217 203854217 single base substitution C G intron_variant BRCA-FR 2 203854378 203854378 single base substitution C G intron_variant BRCA-FR 2 203858006 203858006 single base substitution G C intron_variant BRCA-FR 2 203860943 203860943 single base substitution C A intron_variant BRCA-FR 2 203865009 203865009 single base substitution G A intron_variant BRCA-FR 2 203866584 203866584 single base substitution C T intron_variant BRCA-FR 2 203876919 203876919 single base substitution C G intron_variant BRCA-FR 2 203877161 203877161 single base substitution G C intron_variant BRCA-FR 2 203877452 203877452 single base substitution C T intron_variant BRCA-UK 2 203742140 203742140 single base substitution G C 3_prime_UTR_variant BRCA-UK 2 203742140 203742140 single base substitution G C downstream_gene_variant BRCA-UK 2 203770327 203770327 single base substitution C T intron_variant BRCA-UK 2 203770327 203770327 single base substitution C T upstream_gene_variant BRCA-UK 2 203799362 203799362 single base substitution G A intron_variant BRCA-US 2 203747488 203747488 single base substitution A T downstream_gene_variant BRCA-US 2 203747488 203747488 single base substitution A T exon_variant BRCA-US 2 203747488 203747488 single base substitution A T stop_gained Y380* 1140T>A BRCA-US 2 203817332 203817332 single base substitution A C intron_variant BRCA-US 2 203825996 203825996 single base substitution G C intron_variant BRCA-US 2 203826027 203826027 single base substitution A G intron_variant BRCA-US 2 203826061 203826061 single base substitution T A intron_variant BRCA-US 2 203848276 203848276 single base substitution G C intron_variant BRCA-US 2 203848327 203848327 single base substitution A G intron_variant BTCA-JP 2 203748555 203748555 single base substitution G T downstream_gene_variant BTCA-JP 2 203748555 203748555 single base substitution G T intron_variant BTCA-JP 2 203748555 203748555 single base substitution G T upstream_gene_variant BTCA-JP 2 203762146 203762146 deletion of <=200bp A - downstream_gene_variant BTCA-JP 2 203762146 203762146 deletion of <=200bp A - splice_region_variant BTCA-JP 2 203762146 203762146 deletion of <=200bp A - upstream_gene_variant BTCA-JP 2 203807442 203807442 deletion of <=200bp T - intron_variant BTCA-JP 2 203848201 203848201 single base substitution T G intron_variant BTCA-JP 2 203881054 203881054 single base substitution G A upstream_gene_variant CESC-US 2 203748344 203748344 single base substitution C A downstream_gene_variant CESC-US 2 203748344 203748344 single base substitution C A exon_variant CESC-US 2 203748344 203748344 single base substitution C A missense_variant W370L 1109G>T CESC-US 2 203748344 203748344 single base substitution C A upstream_gene_variant CESC-US 2 203807466 203807466 single base substitution C G intron_variant CESC-US 2 203826051 203826051 single base substitution G C intron_variant CLLE-ES 2 203743849 203743849 single base substitution G T 3_prime_UTR_variant CLLE-ES 2 203743849 203743849 single base substitution G T downstream_gene_variant CLLE-ES 2 203752803 203752803 single base substitution A G intron_variant CLLE-ES 2 203752803 203752803 single base substitution A G upstream_gene_variant CLLE-ES 2 203792452 203792452 single base substitution C T intron_variant CLLE-ES 2 203819943 203819943 single base substitution C T intron_variant CLLE-ES 2 203821596 203821596 single base substitution C T intron_variant CLLE-ES 2 203865482 203865482 single base substitution G T intron_variant CLLE-ES 2 203868201 203868201 single base substitution T A intron_variant COAD-US 2 203806678 203806678 insertion of <=200bp - A intron_variant COAD-US 2 203831743 203831743 single base substitution G A intron_variant COAD-US 2 203846925 203846925 single base substitution C A intron_variant COAD-US 2 203848249 203848249 single base substitution A G intron_variant COAD-US 2 203848307 203848307 insertion of <=200bp - A intron_variant COCA-CN 2 203747301 203747301 single base substitution T G downstream_gene_variant COCA-CN 2 203747301 203747301 single base substitution T G intron_variant COCA-CN 2 203748385 203748385 single base substitution C T downstream_gene_variant COCA-CN 2 203748385 203748385 single base substitution C T exon_variant COCA-CN 2 203748385 203748385 single base substitution C T synonymous_variant Q356Q 1068G>A COCA-CN 2 203748385 203748385 single base substitution C T upstream_gene_variant COCA-CN 2 203760910 203760910 single base substitution T C downstream_gene_variant COCA-CN 2 203760910 203760910 single base substitution T C exon_variant COCA-CN 2 203760910 203760910 single base substitution T C missense_variant M163V 487A>G COCA-CN 2 203760910 203760910 single base substitution T C upstream_gene_variant COCA-CN 2 203761899 203761899 single base substitution G T downstream_gene_variant COCA-CN 2 203761899 203761899 single base substitution G T intron_variant COCA-CN 2 203761899 203761899 single base substitution G T upstream_gene_variant COCA-CN 2 203762145 203762145 single base substitution G T downstream_gene_variant COCA-CN 2 203762145 203762145 single base substitution G T splice_region_variant COCA-CN 2 203762145 203762145 single base substitution G T upstream_gene_variant COCA-CN 2 203765788 203765788 single base substitution A G exon_variant COCA-CN 2 203765788 203765788 single base substitution A G missense_variant M64T 191T>C COCA-CN 2 203776161 203776161 single base substitution C A intron_variant COCA-CN 2 203776161 203776161 single base substitution C A missense_variant K13N 39G>T COCA-CN 2 203807777 203807777 single base substitution T C intron_variant COCA-CN 2 203825937 203825937 single base substitution T G intron_variant COCA-CN 2 203834668 203834668 single base substitution T G intron_variant COCA-CN 2 203836208 203836208 single base substitution T G intron_variant COCA-CN 2 203836451 203836451 single base substitution A G intron_variant COCA-CN 2 203839181 203839181 single base substitution G T intron_variant COCA-CN 2 203841934 203841934 single base substitution T C intron_variant COCA-CN 2 203846361 203846361 single base substitution C T intron_variant COCA-CN 2 203846518 203846518 single base substitution G T intron_variant COCA-CN 2 203846925 203846925 single base substitution C A intron_variant COCA-CN 2 203848311 203848311 single base substitution A C intron_variant EOPC-DE 2 203773831 203773831 single base substitution T C intron_variant EOPC-DE 2 203800282 203800282 single base substitution G T intron_variant EOPC-DE 2 203857653 203857653 single base substitution T C intron_variant EOPC-DE 2 203857842 203857842 single base substitution A G intron_variant ESAD-UK 2 203735953 203735953 single base substitution G A downstream_gene_variant ESAD-UK 2 203736163 203736163 deletion of <=200bp C - downstream_gene_variant ESAD-UK 2 203737113 203737113 single base substitution G T downstream_gene_variant ESAD-UK 2 203738176 203738176 single base substitution T C downstream_gene_variant ESAD-UK 2 203738649 203738649 single base substitution G A downstream_gene_variant ESAD-UK 2 203740290 203740290 single base substitution T C 3_prime_UTR_variant ESAD-UK 2 203743542 203743542 single base substitution T C 3_prime_UTR_variant ESAD-UK 2 203743542 203743542 single base substitution T C downstream_gene_variant ESAD-UK 2 203743749 203743749 single base substitution A G 3_prime_UTR_variant ESAD-UK 2 203743749 203743749 single base substitution A G downstream_gene_variant ESAD-UK 2 203744170 203744170 single base substitution G C 3_prime_UTR_variant ESAD-UK 2 203744170 203744170 single base substitution G C downstream_gene_variant ESAD-UK 2 203744444 203744444 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 203744444 203744444 single base substitution C T downstream_gene_variant ESAD-UK 2 203747341 203747341 single base substitution G A downstream_gene_variant ESAD-UK 2 203747341 203747341 single base substitution G A intron_variant ESAD-UK 2 203747661 203747661 single base substitution C T downstream_gene_variant ESAD-UK 2 203747661 203747661 single base substitution C T intron_variant ESAD-UK 2 203747661 203747661 single base substitution C T upstream_gene_variant ESAD-UK 2 203749034 203749034 single base substitution A C exon_variant ESAD-UK 2 203749034 203749034 single base substitution A C intron_variant ESAD-UK 2 203749034 203749034 single base substitution A C splice_region_variant ESAD-UK 2 203749034 203749034 single base substitution A C upstream_gene_variant ESAD-UK 2 203750046 203750046 single base substitution T A intron_variant ESAD-UK 2 203750046 203750046 single base substitution T A upstream_gene_variant ESAD-UK 2 203751007 203751007 single base substitution C G intron_variant ESAD-UK 2 203751007 203751007 single base substitution C G upstream_gene_variant ESAD-UK 2 203753717 203753717 single base substitution G A intron_variant ESAD-UK 2 203753717 203753717 single base substitution G A upstream_gene_variant ESAD-UK 2 203755010 203755010 single base substitution A C intron_variant ESAD-UK 2 203756319 203756319 single base substitution T G downstream_gene_variant ESAD-UK 2 203756319 203756319 single base substitution T G intron_variant ESAD-UK 2 203756532 203756532 single base substitution C T downstream_gene_variant ESAD-UK 2 203756532 203756532 single base substitution C T intron_variant ESAD-UK 2 203756705 203756705 single base substitution C G downstream_gene_variant ESAD-UK 2 203756705 203756705 single base substitution C G intron_variant ESAD-UK 2 203756782 203756782 single base substitution C T downstream_gene_variant ESAD-UK 2 203756782 203756782 single base substitution C T intron_variant ESAD-UK 2 203757560 203757560 single base substitution T A downstream_gene_variant ESAD-UK 2 203757560 203757560 single base substitution T A intron_variant ESAD-UK 2 203757560 203757560 single base substitution T A upstream_gene_variant ESAD-UK 2 203758884 203758884 single base substitution C T downstream_gene_variant ESAD-UK 2 203758884 203758884 single base substitution C T intron_variant ESAD-UK 2 203758884 203758884 single base substitution C T upstream_gene_variant ESAD-UK 2 203760708 203760708 single base substitution G A downstream_gene_variant ESAD-UK 2 203760708 203760708 single base substitution G A intron_variant ESAD-UK 2 203760708 203760708 single base substitution G A upstream_gene_variant ESAD-UK 2 203761658 203761658 single base substitution C A downstream_gene_variant ESAD-UK 2 203761658 203761658 single base substitution C A intron_variant ESAD-UK 2 203761658 203761658 single base substitution C A upstream_gene_variant ESAD-UK 2 203764221 203764221 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 203764221 203764221 deletion of <=200bp A - intron_variant ESAD-UK 2 203764221 203764221 deletion of <=200bp A - upstream_gene_variant ESAD-UK 2 203764729 203764729 single base substitution T G intron_variant ESAD-UK 2 203766580 203766580 deletion of <=200bp T - intron_variant ESAD-UK 2 203766580 203766580 deletion of <=200bp T - upstream_gene_variant ESAD-UK 2 203766580 203766580 single base substitution T G intron_variant ESAD-UK 2 203766580 203766580 single base substitution T G upstream_gene_variant ESAD-UK 2 203770831 203770831 single base substitution C T intron_variant ESAD-UK 2 203770831 203770831 single base substitution C T upstream_gene_variant ESAD-UK 2 203771778 203771778 single base substitution T C intron_variant ESAD-UK 2 203778143 203778143 single base substitution C A intron_variant ESAD-UK 2 203778143 203778143 single base substitution C A upstream_gene_variant ESAD-UK 2 203778347 203778347 single base substitution G T intron_variant ESAD-UK 2 203778347 203778347 single base substitution G T upstream_gene_variant ESAD-UK 2 203779794 203779794 single base substitution C A intron_variant ESAD-UK 2 203779794 203779794 single base substitution C A upstream_gene_variant ESAD-UK 2 203782173 203782173 single base substitution C A intron_variant ESAD-UK 2 203782421 203782421 single base substitution T C intron_variant ESAD-UK 2 203783202 203783202 single base substitution C T intron_variant ESAD-UK 2 203784501 203784501 single base substitution C T intron_variant ESAD-UK 2 203791408 203791408 single base substitution G T intron_variant ESAD-UK 2 203791584 203791584 single base substitution C T intron_variant ESAD-UK 2 203792360 203792360 single base substitution A T intron_variant ESAD-UK 2 203793614 203793614 single base substitution G A intron_variant ESAD-UK 2 203794507 203794507 single base substitution G C intron_variant ESAD-UK 2 203795840 203795840 single base substitution G T intron_variant ESAD-UK 2 203797034 203797034 single base substitution A G intron_variant ESAD-UK 2 203797161 203797161 single base substitution T C intron_variant ESAD-UK 2 203798952 203798952 single base substitution A C intron_variant ESAD-UK 2 203801918 203801918 single base substitution T C intron_variant ESAD-UK 2 203802027 203802027 single base substitution C G intron_variant ESAD-UK 2 203802331 203802331 deletion of <=200bp T - intron_variant ESAD-UK 2 203802505 203802505 single base substitution G A intron_variant ESAD-UK 2 203803581 203803581 single base substitution G C intron_variant ESAD-UK 2 203804308 203804308 single base substitution G C intron_variant ESAD-UK 2 203805681 203805681 deletion of <=200bp T - intron_variant ESAD-UK 2 203805866 203805866 single base substitution G A intron_variant ESAD-UK 2 203807443 203807443 insertion of <=200bp - G intron_variant ESAD-UK 2 203809526 203809526 single base substitution T C intron_variant ESAD-UK 2 203809528 203809528 single base substitution C A intron_variant ESAD-UK 2 203809530 203809530 single base substitution A C intron_variant ESAD-UK 2 203810597 203810597 single base substitution G C intron_variant ESAD-UK 2 203812173 203812173 single base substitution A T intron_variant ESAD-UK 2 203813755 203813755 single base substitution T C intron_variant ESAD-UK 2 203814054 203814054 single base substitution A C intron_variant ESAD-UK 2 203814240 203814240 insertion of <=200bp - TTTTTA intron_variant ESAD-UK 2 203814916 203814916 single base substitution G C intron_variant ESAD-UK 2 203816587 203816587 single base substitution G A intron_variant ESAD-UK 2 203816656 203816656 single base substitution A G intron_variant ESAD-UK 2 203817164 203817164 single base substitution G A intron_variant ESAD-UK 2 203821471 203821471 single base substitution A G intron_variant ESAD-UK 2 203825154 203825154 single base substitution G A intron_variant ESAD-UK 2 203825440 203825440 single base substitution C T intron_variant ESAD-UK 2 203825990 203825993 deletion of <=200bp GTAA - intron_variant ESAD-UK 2 203826396 203826396 single base substitution G A intron_variant ESAD-UK 2 203827162 203827162 single base substitution C T intron_variant ESAD-UK 2 203836335 203836335 single base substitution A C intron_variant ESAD-UK 2 203837537 203837537 single base substitution T C intron_variant ESAD-UK 2 203838527 203838527 single base substitution T G intron_variant ESAD-UK 2 203839496 203839496 single base substitution C T intron_variant ESAD-UK 2 203840186 203840186 single base substitution G T intron_variant ESAD-UK 2 203841312 203841312 single base substitution G A intron_variant ESAD-UK 2 203846674 203846674 single base substitution A C intron_variant ESAD-UK 2 203847474 203847474 single base substitution T A intron_variant ESAD-UK 2 203847718 203847718 single base substitution C T intron_variant ESAD-UK 2 203848166 203848166 single base substitution T C intron_variant ESAD-UK 2 203848775 203848775 single base substitution A G intron_variant ESAD-UK 2 203853217 203853217 single base substitution G A intron_variant ESAD-UK 2 203854287 203854287 single base substitution C G intron_variant ESAD-UK 2 203855630 203855630 single base substitution C T intron_variant ESAD-UK 2 203855988 203855988 single base substitution G A intron_variant ESAD-UK 2 203856981 203856981 single base substitution G A intron_variant ESAD-UK 2 203857049 203857049 single base substitution G T intron_variant ESAD-UK 2 203857296 203857296 single base substitution G A intron_variant ESAD-UK 2 203858688 203858688 single base substitution C G intron_variant ESAD-UK 2 203858812 203858812 single base substitution C T intron_variant ESAD-UK 2 203859865 203859865 single base substitution T A intron_variant ESAD-UK 2 203860126 203860126 single base substitution G C intron_variant ESAD-UK 2 203862070 203862070 single base substitution T G intron_variant ESAD-UK 2 203863136 203863136 deletion of <=200bp T - intron_variant ESAD-UK 2 203863267 203863267 single base substitution G C intron_variant ESAD-UK 2 203863675 203863675 single base substitution C T intron_variant ESAD-UK 2 203863698 203863698 single base substitution G A intron_variant ESAD-UK 2 203865014 203865014 deletion of <=200bp T - intron_variant ESAD-UK 2 203865033 203865033 single base substitution T A intron_variant ESAD-UK 2 203865273 203865273 single base substitution T G intron_variant ESAD-UK 2 203865355 203865355 single base substitution G A intron_variant ESAD-UK 2 203866365 203866365 single base substitution T A intron_variant ESAD-UK 2 203868105 203868105 single base substitution C T intron_variant ESAD-UK 2 203868943 203868943 insertion of <=200bp - A intron_variant ESAD-UK 2 203870307 203870307 insertion of <=200bp - A intron_variant ESAD-UK 2 203870307 203870307 single base substitution C T intron_variant ESAD-UK 2 203872268 203872268 single base substitution C T intron_variant ESAD-UK 2 203874665 203874665 single base substitution T C intron_variant ESAD-UK 2 203875539 203875539 single base substitution T C intron_variant ESAD-UK 2 203876304 203876304 single base substitution G T intron_variant ESAD-UK 2 203877082 203877082 single base substitution C T intron_variant ESAD-UK 2 203877917 203877917 single base substitution A T intron_variant ESAD-UK 2 203878085 203878085 single base substitution T G intron_variant ESAD-UK 2 203879373 203879373 single base substitution C T exon_variant ESAD-UK 2 203879438 203879438 single base substitution T A exon_variant ESAD-UK 2 203879452 203879452 single base substitution A C exon_variant ESAD-UK 2 203881220 203881220 single base substitution C G upstream_gene_variant ESAD-UK 2 203882276 203882276 single base substitution C T upstream_gene_variant ESCA-CN 2 203757449 203757449 single base substitution G A downstream_gene_variant ESCA-CN 2 203757449 203757449 single base substitution G A intron_variant ESCA-CN 2 203757449 203757449 single base substitution G A upstream_gene_variant ESCA-CN 2 203772630 203772630 single base substitution C T exon_variant ESCA-CN 2 203772630 203772630 single base substitution C T missense_variant D32N 94G>A ESCA-CN 2 203846763 203846763 single base substitution A G intron_variant GBM-US 2 203806678 203806678 single base substitution C T intron_variant GBM-US 2 203846966 203846966 single base substitution T C intron_variant KIRC-US 2 203818776 203818776 single base substitution T G intron_variant KIRP-US 2 203762106 203762106 single base substitution C T downstream_gene_variant KIRP-US 2 203762106 203762106 single base substitution C T exon_variant KIRP-US 2 203762106 203762106 single base substitution C T missense_variant R124Q 371G>A KIRP-US 2 203762106 203762106 single base substitution C T upstream_gene_variant KIRP-US 2 203848266 203848266 single base substitution A G intron_variant LAML-KR 2 203751278 203751278 single base substitution G C intron_variant LAML-KR 2 203751278 203751278 single base substitution G C upstream_gene_variant LAML-KR 2 203765075 203765075 single base substitution T A intron_variant LAML-KR 2 203792540 203792540 single base substitution G T intron_variant LAML-KR 2 203816604 203816604 single base substitution G A intron_variant LAML-KR 2 203853714 203853714 single base substitution A T intron_variant LICA-CN 2 203762118 203762118 single base substitution T A downstream_gene_variant LICA-CN 2 203762118 203762118 single base substitution T A exon_variant LICA-CN 2 203762118 203762118 single base substitution T A missense_variant D120V 359A>T LICA-CN 2 203762118 203762118 single base substitution T A upstream_gene_variant LICA-CN 2 203836406 203836406 single base substitution C G intron_variant LICA-FR 2 203746100 203746100 single base substitution C T downstream_gene_variant LICA-FR 2 203746100 203746100 single base substitution C T intron_variant LICA-FR 2 203752650 203752650 single base substitution T A intron_variant LICA-FR 2 203752650 203752650 single base substitution T A upstream_gene_variant LICA-FR 2 203752656 203752656 single base substitution C A intron_variant LICA-FR 2 203752656 203752656 single base substitution C A upstream_gene_variant LICA-FR 2 203757417 203757417 single base substitution C G downstream_gene_variant LICA-FR 2 203757417 203757417 single base substitution C G exon_variant LICA-FR 2 203757417 203757417 single base substitution C G missense_variant D222H 664G>C LICA-FR 2 203757417 203757417 single base substitution C G upstream_gene_variant LICA-FR 2 203768899 203768899 single base substitution G A intron_variant LICA-FR 2 203768899 203768899 single base substitution G A upstream_gene_variant LICA-FR 2 203786502 203786502 single base substitution A G intron_variant LICA-FR 2 203808408 203808408 insertion of <=200bp - TCGCCAAGGCTGGAGTACAGTGGCCCGA intron_variant LICA-FR 2 203829625 203829625 single base substitution C T intron_variant LICA-FR 2 203844522 203844522 insertion of <=200bp - A intron_variant LICA-FR 2 203860823 203860823 deletion of <=200bp A - intron_variant LICA-FR 2 203862552 203862552 single base substitution T C intron_variant LICA-FR 2 203862866 203862866 single base substitution C G intron_variant LIHC-US 2 203834660 203834660 single base substitution A G intron_variant LIHC-US 2 203834662 203834662 single base substitution A G intron_variant LIHC-US 2 203834763 203834763 single base substitution G A intron_variant LINC-JP 2 203748248 203748248 single base substitution T A downstream_gene_variant LINC-JP 2 203748248 203748248 single base substitution T A exon_variant LINC-JP 2 203748248 203748248 single base substitution T A intron_variant LINC-JP 2 203748248 203748248 single base substitution T A upstream_gene_variant LINC-JP 2 203748555 203748555 single base substitution G T downstream_gene_variant LINC-JP 2 203748555 203748555 single base substitution G T intron_variant LINC-JP 2 203748555 203748555 single base substitution G T upstream_gene_variant LINC-JP 2 203749066 203749066 deletion of <=200bp A - exon_variant LINC-JP 2 203749066 203749066 deletion of <=200bp A - intron_variant LINC-JP 2 203749066 203749066 deletion of <=200bp A - upstream_gene_variant LINC-JP 2 203749479 203749479 single base substitution A G intron_variant LINC-JP 2 203749479 203749479 single base substitution A G upstream_gene_variant LINC-JP 2 203757353 203757353 single base substitution A T downstream_gene_variant LINC-JP 2 203757353 203757353 single base substitution A T exon_variant LINC-JP 2 203757353 203757353 single base substitution A T stop_gained L243* 728T>A LINC-JP 2 203776293 203776293 single base substitution T C 5_prime_UTR_variant LINC-JP 2 203776293 203776293 single base substitution T C intron_variant LINC-JP 2 203823212 203823212 single base substitution A G intron_variant LINC-JP 2 203824823 203824823 single base substitution A G intron_variant LINC-JP 2 203826296 203826296 single base substitution C G intron_variant LINC-JP 2 203834698 203834698 single base substitution A T intron_variant LINC-JP 2 203847148 203847148 single base substitution C T intron_variant LINC-JP 2 203882514 203882514 single base substitution A G upstream_gene_variant LIRI-JP 2 203738579 203738579 single base substitution G A downstream_gene_variant LIRI-JP 2 203740164 203740164 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 203740403 203740403 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 203740403 203740403 single base substitution G A downstream_gene_variant LIRI-JP 2 203743507 203743507 single base substitution T A 3_prime_UTR_variant LIRI-JP 2 203743507 203743507 single base substitution T A downstream_gene_variant LIRI-JP 2 203744593 203744593 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 203744593 203744593 single base substitution T C downstream_gene_variant LIRI-JP 2 203748458 203748458 single base substitution G A downstream_gene_variant LIRI-JP 2 203748458 203748458 single base substitution G A exon_variant LIRI-JP 2 203748458 203748458 single base substitution G A missense_variant S332F 995C>T LIRI-JP 2 203748458 203748458 single base substitution G A upstream_gene_variant LIRI-JP 2 203749002 203749002 single base substitution T C exon_variant LIRI-JP 2 203749002 203749002 single base substitution T C missense_variant I303V 907A>G LIRI-JP 2 203749002 203749002 single base substitution T C upstream_gene_variant LIRI-JP 2 203754884 203754884 single base substitution T A intron_variant LIRI-JP 2 203755657 203755657 single base substitution T C intron_variant LIRI-JP 2 203756088 203756088 single base substitution C T downstream_gene_variant LIRI-JP 2 203756088 203756088 single base substitution C T intron_variant LIRI-JP 2 203758442 203758442 single base substitution G A downstream_gene_variant LIRI-JP 2 203758442 203758442 single base substitution G A intron_variant LIRI-JP 2 203758442 203758442 single base substitution G A upstream_gene_variant LIRI-JP 2 203760520 203760520 single base substitution T A downstream_gene_variant LIRI-JP 2 203760520 203760520 single base substitution T A intron_variant LIRI-JP 2 203760520 203760520 single base substitution T A upstream_gene_variant LIRI-JP 2 203763180 203763180 single base substitution T G downstream_gene_variant LIRI-JP 2 203763180 203763180 single base substitution T G intron_variant LIRI-JP 2 203763180 203763180 single base substitution T G upstream_gene_variant LIRI-JP 2 203766839 203766839 single base substitution G T intron_variant LIRI-JP 2 203766839 203766839 single base substitution G T upstream_gene_variant LIRI-JP 2 203769627 203769627 single base substitution A G intron_variant LIRI-JP 2 203769627 203769627 single base substitution A G upstream_gene_variant LIRI-JP 2 203770573 203770573 single base substitution A C intron_variant LIRI-JP 2 203770573 203770573 single base substitution A C upstream_gene_variant LIRI-JP 2 203774052 203774052 single base substitution C T intron_variant LIRI-JP 2 203775106 203775106 single base substitution C T intron_variant LIRI-JP 2 203780164 203780164 single base substitution C T intron_variant LIRI-JP 2 203780164 203780164 single base substitution C T upstream_gene_variant LIRI-JP 2 203780208 203780208 single base substitution T C intron_variant LIRI-JP 2 203780208 203780208 single base substitution T C upstream_gene_variant LIRI-JP 2 203783016 203783016 single base substitution G C intron_variant LIRI-JP 2 203784213 203784213 single base substitution C T intron_variant LIRI-JP 2 203784811 203784813 deletion of <=200bp TAA - intron_variant LIRI-JP 2 203785082 203785082 single base substitution G A intron_variant LIRI-JP 2 203793175 203793175 single base substitution C T intron_variant LIRI-JP 2 203793302 203793302 single base substitution C T intron_variant LIRI-JP 2 203795332 203795332 single base substitution A C intron_variant LIRI-JP 2 203797930 203797930 single base substitution T G intron_variant LIRI-JP 2 203800601 203800601 single base substitution A G intron_variant LIRI-JP 2 203808739 203808739 single base substitution A G intron_variant LIRI-JP 2 203812954 203812954 single base substitution T G intron_variant LIRI-JP 2 203815846 203815846 single base substitution T C intron_variant LIRI-JP 2 203817349 203817349 single base substitution T A intron_variant LIRI-JP 2 203821818 203821818 single base substitution A G intron_variant LIRI-JP 2 203822893 203822893 single base substitution T G intron_variant LIRI-JP 2 203823883 203823883 single base substitution A G intron_variant LIRI-JP 2 203833648 203833648 single base substitution G A intron_variant LIRI-JP 2 203833842 203833842 single base substitution G A intron_variant LIRI-JP 2 203834373 203834373 single base substitution C T intron_variant LIRI-JP 2 203834628 203834628 single base substitution T G intron_variant LIRI-JP 2 203836298 203836298 single base substitution T C intron_variant LIRI-JP 2 203838803 203838803 single base substitution T G intron_variant LIRI-JP 2 203841401 203841401 single base substitution A G intron_variant LIRI-JP 2 203842225 203842225 single base substitution C T intron_variant LIRI-JP 2 203842714 203842714 single base substitution G A intron_variant LIRI-JP 2 203844778 203844778 single base substitution T C intron_variant LIRI-JP 2 203845141 203845141 single base substitution A C intron_variant LIRI-JP 2 203845888 203845888 single base substitution C G intron_variant LIRI-JP 2 203851062 203851062 single base substitution A G intron_variant LIRI-JP 2 203853455 203853455 single base substitution C G intron_variant LIRI-JP 2 203856819 203856819 single base substitution A G intron_variant LIRI-JP 2 203858826 203858826 single base substitution G C intron_variant LIRI-JP 2 203859898 203859898 deletion of <=200bp G - intron_variant LIRI-JP 2 203860012 203860014 deletion of <=200bp TCA - intron_variant LIRI-JP 2 203865189 203865189 single base substitution C A intron_variant LIRI-JP 2 203869223 203869223 single base substitution C A intron_variant LIRI-JP 2 203871529 203871529 single base substitution G C intron_variant LIRI-JP 2 203874138 203874138 single base substitution A T intron_variant LIRI-JP 2 203877082 203877082 single base substitution C T intron_variant LIRI-JP 2 203877949 203877949 single base substitution T C intron_variant LIRI-JP 2 203878652 203878652 single base substitution T C intron_variant LIRI-JP 2 203881931 203881931 single base substitution A G upstream_gene_variant LIRI-JP 2 203883121 203883121 single base substitution T G upstream_gene_variant LIRI-JP 2 203884329 203884329 single base substitution G T upstream_gene_variant LUSC-KR 2 203734888 203734888 single base substitution C T downstream_gene_variant LUSC-KR 2 203739810 203739810 single base substitution C G 3_prime_UTR_variant LUSC-KR 2 203740129 203740129 single base substitution G T 3_prime_UTR_variant LUSC-KR 2 203743945 203743945 single base substitution G A 3_prime_UTR_variant LUSC-KR 2 203743945 203743945 single base substitution G A downstream_gene_variant LUSC-KR 2 203744034 203744034 single base substitution G A 3_prime_UTR_variant LUSC-KR 2 203744034 203744034 single base substitution G A downstream_gene_variant LUSC-KR 2 203745232 203745232 single base substitution C A 3_prime_UTR_variant LUSC-KR 2 203745232 203745232 single base substitution C A downstream_gene_variant LUSC-KR 2 203748521 203748521 single base substitution G A downstream_gene_variant LUSC-KR 2 203748521 203748521 single base substitution G A intron_variant LUSC-KR 2 203748521 203748521 single base substitution G A upstream_gene_variant LUSC-KR 2 203753922 203753922 single base substitution C A intron_variant LUSC-KR 2 203753922 203753922 single base substitution C A upstream_gene_variant LUSC-KR 2 203755509 203755509 single base substitution A T intron_variant LUSC-KR 2 203761333 203761333 single base substitution G C downstream_gene_variant LUSC-KR 2 203761333 203761333 single base substitution G C intron_variant LUSC-KR 2 203761333 203761333 single base substitution G C upstream_gene_variant LUSC-KR 2 203763306 203763306 single base substitution G C downstream_gene_variant LUSC-KR 2 203763306 203763306 single base substitution G C intron_variant LUSC-KR 2 203763306 203763306 single base substitution G C upstream_gene_variant LUSC-KR 2 203769467 203769467 single base substitution C T intron_variant LUSC-KR 2 203769467 203769467 single base substitution C T upstream_gene_variant LUSC-KR 2 203769681 203769681 single base substitution C G intron_variant LUSC-KR 2 203769681 203769681 single base substitution C G upstream_gene_variant LUSC-KR 2 203769764 203769764 single base substitution C G intron_variant LUSC-KR 2 203769764 203769764 single base substitution C G upstream_gene_variant LUSC-KR 2 203772773 203772773 single base substitution T C intron_variant LUSC-KR 2 203777426 203777426 single base substitution A G intron_variant LUSC-KR 2 203777426 203777426 single base substitution A G upstream_gene_variant LUSC-KR 2 203779134 203779134 single base substitution A C intron_variant LUSC-KR 2 203779134 203779134 single base substitution A C upstream_gene_variant LUSC-KR 2 203782613 203782613 single base substitution G T intron_variant LUSC-KR 2 203786618 203786618 single base substitution G C intron_variant LUSC-KR 2 203793228 203793228 single base substitution G T intron_variant LUSC-KR 2 203793680 203793680 single base substitution T C intron_variant LUSC-KR 2 203793681 203793681 single base substitution G T intron_variant LUSC-KR 2 203800670 203800670 single base substitution A G intron_variant LUSC-KR 2 203806290 203806290 single base substitution G A intron_variant LUSC-KR 2 203806455 203806455 single base substitution A C intron_variant LUSC-KR 2 203808063 203808063 single base substitution C T intron_variant LUSC-KR 2 203814464 203814464 single base substitution G C intron_variant LUSC-KR 2 203821019 203821019 single base substitution C T intron_variant LUSC-KR 2 203821207 203821207 single base substitution G A intron_variant LUSC-KR 2 203829155 203829155 single base substitution A T intron_variant LUSC-KR 2 203833496 203833496 single base substitution G A intron_variant LUSC-KR 2 203834856 203834856 single base substitution G A intron_variant LUSC-KR 2 203835293 203835293 single base substitution C G intron_variant LUSC-KR 2 203848724 203848724 single base substitution G A intron_variant LUSC-KR 2 203862189 203862189 single base substitution C A intron_variant LUSC-KR 2 203862351 203862351 single base substitution A T intron_variant LUSC-KR 2 203864124 203864124 single base substitution C T intron_variant LUSC-KR 2 203867053 203867053 single base substitution G T intron_variant LUSC-KR 2 203878720 203878720 single base substitution G T intron_variant LUSC-KR 2 203878850 203878850 single base substitution T C intron_variant LUSC-KR 2 203879199 203879199 single base substitution C G intron_variant LUSC-US 2 203748393 203748393 single base substitution G A downstream_gene_variant LUSC-US 2 203748393 203748393 single base substitution G A exon_variant LUSC-US 2 203748393 203748393 single base substitution G A missense_variant H354Y 1060C>T LUSC-US 2 203748393 203748393 single base substitution G A upstream_gene_variant LUSC-US 2 203760895 203760895 single base substitution G C downstream_gene_variant LUSC-US 2 203760895 203760895 single base substitution G C exon_variant LUSC-US 2 203760895 203760895 single base substitution G C missense_variant L168V 502C>G LUSC-US 2 203760895 203760895 single base substitution G C upstream_gene_variant LUSC-US 2 203762032 203762032 single base substitution C A downstream_gene_variant LUSC-US 2 203762032 203762032 single base substitution C A exon_variant LUSC-US 2 203762032 203762032 single base substitution C A missense_variant V149L 445G>T LUSC-US 2 203762032 203762032 single base substitution C A upstream_gene_variant LUSC-US 2 203820411 203820411 single base substitution C T intron_variant LUSC-US 2 203847162 203847162 single base substitution T A intron_variant MALY-DE 2 203736590 203736590 single base substitution A T downstream_gene_variant MALY-DE 2 203778996 203778996 single base substitution T G intron_variant MALY-DE 2 203778996 203778996 single base substitution T G upstream_gene_variant MALY-DE 2 203793159 203793159 single base substitution G A intron_variant MALY-DE 2 203807283 203807283 single base substitution A C intron_variant MALY-DE 2 203823879 203823879 single base substitution A T intron_variant MALY-DE 2 203823952 203823952 single base substitution A G intron_variant MALY-DE 2 203830144 203830144 single base substitution T C intron_variant MALY-DE 2 203832985 203832985 single base substitution C T intron_variant MALY-DE 2 203839407 203839407 single base substitution C T intron_variant MALY-DE 2 203845280 203845280 single base substitution T C intron_variant MALY-DE 2 203865799 203865800 deletion of <=200bp GT - intron_variant MALY-DE 2 203878080 203878080 single base substitution C T intron_variant MELA-AU 2 203734634 203734634 single base substitution G A downstream_gene_variant MELA-AU 2 203735705 203735705 single base substitution G A downstream_gene_variant MELA-AU 2 203735953 203735953 single base substitution G T downstream_gene_variant MELA-AU 2 203735970 203735970 single base substitution G A downstream_gene_variant MELA-AU 2 203736031 203736032 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 203736241 203736241 single base substitution C T downstream_gene_variant MELA-AU 2 203736318 203736319 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 203736537 203736537 single base substitution C T downstream_gene_variant MELA-AU 2 203737369 203737369 single base substitution C T downstream_gene_variant MELA-AU 2 203740161 203740161 single base substitution G A 3_prime_UTR_variant MELA-AU 2 203740185 203740185 single base substitution C T 3_prime_UTR_variant MELA-AU 2 203740286 203740286 single base substitution T A 3_prime_UTR_variant MELA-AU 2 203741288 203741289 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 2 203741288 203741289 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 203741595 203741595 single base substitution A C 3_prime_UTR_variant MELA-AU 2 203741595 203741595 single base substitution A C downstream_gene_variant MELA-AU 2 203742621 203742621 single base substitution G T 3_prime_UTR_variant MELA-AU 2 203742621 203742621 single base substitution G T downstream_gene_variant MELA-AU 2 203742664 203742664 single base substitution G A 3_prime_UTR_variant MELA-AU 2 203742664 203742664 single base substitution G A downstream_gene_variant MELA-AU 2 203742890 203742890 single base substitution G A 3_prime_UTR_variant MELA-AU 2 203742890 203742890 single base substitution G A downstream_gene_variant MELA-AU 2 203743234 203743234 single base substitution A G 3_prime_UTR_variant MELA-AU 2 203743234 203743234 single base substitution A G downstream_gene_variant MELA-AU 2 203743679 203743679 single base substitution G A 3_prime_UTR_variant MELA-AU 2 203743679 203743679 single base substitution G A downstream_gene_variant MELA-AU 2 203743799 203743799 single base substitution G A 3_prime_UTR_variant MELA-AU 2 203743799 203743799 single base substitution G A downstream_gene_variant MELA-AU 2 203743834 203743834 single base substitution A G 3_prime_UTR_variant MELA-AU 2 203743834 203743834 single base substitution A G downstream_gene_variant MELA-AU 2 203743943 203743943 single base substitution G A 3_prime_UTR_variant MELA-AU 2 203743943 203743943 single base substitution G A downstream_gene_variant MELA-AU 2 203743982 203743982 single base substitution G C 3_prime_UTR_variant MELA-AU 2 203743982 203743982 single base substitution G C downstream_gene_variant MELA-AU 2 203744134 203744134 single base substitution A T 3_prime_UTR_variant MELA-AU 2 203744134 203744134 single base substitution A T downstream_gene_variant MELA-AU 2 203745055 203745055 single base substitution G A 3_prime_UTR_variant MELA-AU 2 203745055 203745055 single base substitution G A downstream_gene_variant MELA-AU 2 203745464 203745464 single base substitution G A 3_prime_UTR_variant MELA-AU 2 203745464 203745464 single base substitution G A downstream_gene_variant MELA-AU 2 203745464 203745464 single base substitution G A exon_variant MELA-AU 2 203746290 203746290 single base substitution G A downstream_gene_variant MELA-AU 2 203746290 203746290 single base substitution G A intron_variant MELA-AU 2 203746730 203746730 single base substitution T A downstream_gene_variant MELA-AU 2 203746730 203746730 single base substitution T A intron_variant MELA-AU 2 203746956 203746956 single base substitution A G downstream_gene_variant MELA-AU 2 203746956 203746956 single base substitution A G intron_variant MELA-AU 2 203747147 203747147 single base substitution G A downstream_gene_variant MELA-AU 2 203747147 203747147 single base substitution G A intron_variant MELA-AU 2 203747664 203747664 single base substitution C T downstream_gene_variant MELA-AU 2 203747664 203747664 single base substitution C T intron_variant MELA-AU 2 203747664 203747664 single base substitution C T upstream_gene_variant MELA-AU 2 203749392 203749392 single base substitution C T intron_variant MELA-AU 2 203749392 203749392 single base substitution C T upstream_gene_variant MELA-AU 2 203749858 203749858 single base substitution G A intron_variant MELA-AU 2 203749858 203749858 single base substitution G A upstream_gene_variant MELA-AU 2 203750691 203750691 single base substitution G A intron_variant MELA-AU 2 203750691 203750691 single base substitution G A upstream_gene_variant MELA-AU 2 203750983 203750983 single base substitution C T intron_variant MELA-AU 2 203750983 203750983 single base substitution C T upstream_gene_variant MELA-AU 2 203752276 203752276 single base substitution G A intron_variant MELA-AU 2 203752276 203752276 single base substitution G A upstream_gene_variant MELA-AU 2 203753245 203753245 single base substitution G A intron_variant MELA-AU 2 203753245 203753245 single base substitution G A upstream_gene_variant MELA-AU 2 203753857 203753857 single base substitution G A intron_variant MELA-AU 2 203753857 203753857 single base substitution G A upstream_gene_variant MELA-AU 2 203753923 203753923 single base substitution G A intron_variant MELA-AU 2 203753923 203753923 single base substitution G A upstream_gene_variant MELA-AU 2 203754225 203754225 single base substitution G A intron_variant MELA-AU 2 203754225 203754225 single base substitution G A upstream_gene_variant MELA-AU 2 203754646 203754646 single base substitution G A intron_variant MELA-AU 2 203754859 203754859 single base substitution G A intron_variant MELA-AU 2 203755592 203755592 single base substitution C T intron_variant MELA-AU 2 203756150 203756150 single base substitution G A downstream_gene_variant MELA-AU 2 203756150 203756150 single base substitution G A intron_variant MELA-AU 2 203756227 203756227 single base substitution G A downstream_gene_variant MELA-AU 2 203756227 203756227 single base substitution G A intron_variant MELA-AU 2 203756627 203756627 single base substitution A G downstream_gene_variant MELA-AU 2 203756627 203756627 single base substitution A G intron_variant MELA-AU 2 203757061 203757062 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 203757061 203757062 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 203757513 203757513 deletion of <=200bp T - downstream_gene_variant MELA-AU 2 203757513 203757513 deletion of <=200bp T - intron_variant MELA-AU 2 203757513 203757513 deletion of <=200bp T - upstream_gene_variant MELA-AU 2 203757539 203757539 single base substitution G A downstream_gene_variant MELA-AU 2 203757539 203757539 single base substitution G A intron_variant MELA-AU 2 203757539 203757539 single base substitution G A upstream_gene_variant MELA-AU 2 203757691 203757691 single base substitution T C downstream_gene_variant MELA-AU 2 203757691 203757691 single base substitution T C intron_variant MELA-AU 2 203757691 203757691 single base substitution T C upstream_gene_variant MELA-AU 2 203757872 203757872 single base substitution G A downstream_gene_variant MELA-AU 2 203757872 203757872 single base substitution G A intron_variant MELA-AU 2 203757872 203757872 single base substitution G A upstream_gene_variant MELA-AU 2 203758257 203758257 single base substitution T A downstream_gene_variant MELA-AU 2 203758257 203758257 single base substitution T A intron_variant MELA-AU 2 203758257 203758257 single base substitution T A upstream_gene_variant MELA-AU 2 203759370 203759370 single base substitution G A downstream_gene_variant MELA-AU 2 203759370 203759370 single base substitution G A exon_variant MELA-AU 2 203759370 203759370 single base substitution G A intron_variant MELA-AU 2 203759370 203759370 single base substitution G A upstream_gene_variant MELA-AU 2 203759927 203759927 single base substitution T C downstream_gene_variant MELA-AU 2 203759927 203759927 single base substitution T C intron_variant MELA-AU 2 203759927 203759927 single base substitution T C upstream_gene_variant MELA-AU 2 203760381 203760381 single base substitution G A downstream_gene_variant MELA-AU 2 203760381 203760381 single base substitution G A intron_variant MELA-AU 2 203760381 203760381 single base substitution G A upstream_gene_variant MELA-AU 2 203761008 203761008 single base substitution G A downstream_gene_variant MELA-AU 2 203761008 203761008 single base substitution G A intron_variant MELA-AU 2 203761008 203761008 single base substitution G A upstream_gene_variant MELA-AU 2 203761397 203761397 single base substitution G A downstream_gene_variant MELA-AU 2 203761397 203761397 single base substitution G A intron_variant MELA-AU 2 203761397 203761397 single base substitution G A upstream_gene_variant MELA-AU 2 203762226 203762226 single base substitution G A downstream_gene_variant MELA-AU 2 203762226 203762226 single base substitution G A intron_variant MELA-AU 2 203762226 203762226 single base substitution G A upstream_gene_variant MELA-AU 2 203762806 203762806 single base substitution A C downstream_gene_variant MELA-AU 2 203762806 203762806 single base substitution A C intron_variant MELA-AU 2 203762806 203762806 single base substitution A C upstream_gene_variant MELA-AU 2 203762937 203762937 single base substitution G A downstream_gene_variant MELA-AU 2 203762937 203762937 single base substitution G A intron_variant MELA-AU 2 203762937 203762937 single base substitution G A upstream_gene_variant MELA-AU 2 203763024 203763024 single base substitution C A downstream_gene_variant MELA-AU 2 203763024 203763024 single base substitution C A intron_variant MELA-AU 2 203763024 203763024 single base substitution C A upstream_gene_variant MELA-AU 2 203764202 203764202 single base substitution A G downstream_gene_variant MELA-AU 2 203764202 203764202 single base substitution A G intron_variant MELA-AU 2 203764202 203764202 single base substitution A G upstream_gene_variant MELA-AU 2 203764553 203764553 single base substitution G A intron_variant MELA-AU 2 203764556 203764556 single base substitution A T intron_variant MELA-AU 2 203764742 203764742 deletion of <=200bp G - intron_variant MELA-AU 2 203766395 203766395 single base substitution C T intron_variant MELA-AU 2 203766395 203766395 single base substitution C T upstream_gene_variant MELA-AU 2 203766843 203766843 single base substitution G A intron_variant MELA-AU 2 203766843 203766843 single base substitution G A upstream_gene_variant MELA-AU 2 203767064 203767064 single base substitution G A intron_variant MELA-AU 2 203767064 203767064 single base substitution G A upstream_gene_variant MELA-AU 2 203767177 203767177 single base substitution G A intron_variant MELA-AU 2 203767177 203767177 single base substitution G A upstream_gene_variant MELA-AU 2 203767420 203767420 single base substitution C T intron_variant MELA-AU 2 203767420 203767420 single base substitution C T upstream_gene_variant MELA-AU 2 203768007 203768007 single base substitution A T intron_variant MELA-AU 2 203768007 203768007 single base substitution A T upstream_gene_variant MELA-AU 2 203768046 203768046 single base substitution C T intron_variant MELA-AU 2 203768046 203768046 single base substitution C T upstream_gene_variant MELA-AU 2 203768303 203768303 single base substitution G A intron_variant MELA-AU 2 203768303 203768303 single base substitution G A upstream_gene_variant MELA-AU 2 203768320 203768320 single base substitution G A intron_variant MELA-AU 2 203768320 203768320 single base substitution G A upstream_gene_variant MELA-AU 2 203768652 203768652 single base substitution G A intron_variant MELA-AU 2 203768652 203768652 single base substitution G A upstream_gene_variant MELA-AU 2 203769463 203769463 single base substitution G A intron_variant MELA-AU 2 203769463 203769463 single base substitution G A upstream_gene_variant MELA-AU 2 203769757 203769757 single base substitution G A intron_variant MELA-AU 2 203769757 203769757 single base substitution G A upstream_gene_variant MELA-AU 2 203770136 203770136 single base substitution G A intron_variant MELA-AU 2 203770136 203770136 single base substitution G A upstream_gene_variant MELA-AU 2 203770966 203770966 single base substitution G A intron_variant MELA-AU 2 203771861 203771861 single base substitution G A intron_variant MELA-AU 2 203772925 203772925 single base substitution A G intron_variant MELA-AU 2 203773353 203773353 single base substitution G A intron_variant MELA-AU 2 203774964 203774964 single base substitution G A intron_variant MELA-AU 2 203775022 203775022 single base substitution G A intron_variant MELA-AU 2 203775138 203775138 single base substitution C T intron_variant MELA-AU 2 203775148 203775148 single base substitution A C intron_variant MELA-AU 2 203775165 203775165 deletion of <=200bp G - intron_variant MELA-AU 2 203775918 203775918 single base substitution G A intron_variant MELA-AU 2 203776215 203776215 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 2 203776215 203776215 single base substitution C G intron_variant MELA-AU 2 203776227 203776227 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 2 203776227 203776227 single base substitution G A intron_variant MELA-AU 2 203778503 203778503 single base substitution T C intron_variant MELA-AU 2 203778503 203778503 single base substitution T C upstream_gene_variant MELA-AU 2 203778685 203778685 single base substitution C T intron_variant MELA-AU 2 203778685 203778685 single base substitution C T upstream_gene_variant MELA-AU 2 203778694 203778694 single base substitution G A intron_variant MELA-AU 2 203778694 203778694 single base substitution G A upstream_gene_variant MELA-AU 2 203779367 203779367 single base substitution T G intron_variant MELA-AU 2 203779367 203779367 single base substitution T G upstream_gene_variant MELA-AU 2 203779772 203779772 single base substitution C T intron_variant MELA-AU 2 203779772 203779772 single base substitution C T upstream_gene_variant MELA-AU 2 203780285 203780285 single base substitution C T intron_variant MELA-AU 2 203780285 203780285 single base substitution C T upstream_gene_variant MELA-AU 2 203780737 203780737 single base substitution C T intron_variant MELA-AU 2 203780737 203780737 single base substitution C T upstream_gene_variant MELA-AU 2 203781573 203781573 single base substitution C T intron_variant MELA-AU 2 203781573 203781573 single base substitution C T upstream_gene_variant MELA-AU 2 203782902 203782902 single base substitution C G intron_variant MELA-AU 2 203783188 203783188 single base substitution G T intron_variant MELA-AU 2 203783592 203783592 single base substitution C T intron_variant MELA-AU 2 203783844 203783844 single base substitution T C intron_variant MELA-AU 2 203784916 203784916 single base substitution C T intron_variant MELA-AU 2 203784968 203784968 single base substitution C T intron_variant MELA-AU 2 203785554 203785554 single base substitution C T intron_variant MELA-AU 2 203785766 203785766 single base substitution C T intron_variant MELA-AU 2 203786043 203786043 single base substitution C T intron_variant MELA-AU 2 203786749 203786749 single base substitution C T intron_variant MELA-AU 2 203787492 203787492 single base substitution C T intron_variant MELA-AU 2 203787547 203787547 single base substitution G T intron_variant MELA-AU 2 203787642 203787642 single base substitution C T intron_variant MELA-AU 2 203788223 203788223 single base substitution C T intron_variant MELA-AU 2 203788979 203788979 single base substitution C T intron_variant MELA-AU 2 203789485 203789485 single base substitution C T intron_variant MELA-AU 2 203790310 203790311 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 2 203790527 203790527 single base substitution C T intron_variant MELA-AU 2 203790742 203790742 single base substitution C T intron_variant MELA-AU 2 203790987 203790987 single base substitution T A intron_variant MELA-AU 2 203791146 203791146 single base substitution C T intron_variant MELA-AU 2 203791161 203791161 single base substitution C T intron_variant MELA-AU 2 203792563 203792563 single base substitution C T intron_variant MELA-AU 2 203793281 203793281 single base substitution C T intron_variant MELA-AU 2 203793566 203793566 single base substitution G A intron_variant MELA-AU 2 203793599 203793599 single base substitution C T intron_variant MELA-AU 2 203793612 203793612 single base substitution C T intron_variant MELA-AU 2 203794006 203794006 single base substitution C T intron_variant MELA-AU 2 203794169 203794169 single base substitution T A intron_variant MELA-AU 2 203794376 203794376 single base substitution C T intron_variant MELA-AU 2 203794691 203794691 single base substitution T A intron_variant MELA-AU 2 203794750 203794750 single base substitution C T intron_variant MELA-AU 2 203794893 203794893 single base substitution C T intron_variant MELA-AU 2 203794929 203794929 single base substitution T A intron_variant MELA-AU 2 203797236 203797236 single base substitution G A intron_variant MELA-AU 2 203797563 203797564 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 203797628 203797628 single base substitution C T intron_variant MELA-AU 2 203798264 203798264 single base substitution G A intron_variant MELA-AU 2 203798328 203798328 single base substitution C T intron_variant MELA-AU 2 203798637 203798637 single base substitution G A intron_variant MELA-AU 2 203798969 203798969 single base substitution C T intron_variant MELA-AU 2 203799165 203799165 single base substitution T C intron_variant MELA-AU 2 203799392 203799392 single base substitution C T intron_variant MELA-AU 2 203799411 203799411 single base substitution C T intron_variant MELA-AU 2 203799571 203799572 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 203799625 203799625 single base substitution C T intron_variant MELA-AU 2 203799786 203799786 single base substitution T A intron_variant MELA-AU 2 203800553 203800553 single base substitution C T intron_variant MELA-AU 2 203800647 203800647 single base substitution C T intron_variant MELA-AU 2 203800861 203800861 single base substitution C T intron_variant MELA-AU 2 203801088 203801088 single base substitution G A intron_variant MELA-AU 2 203801427 203801427 single base substitution C A intron_variant MELA-AU 2 203803112 203803112 single base substitution G A intron_variant MELA-AU 2 203803423 203803423 single base substitution G A intron_variant MELA-AU 2 203803551 203803551 single base substitution C T intron_variant MELA-AU 2 203803798 203803798 single base substitution C T intron_variant MELA-AU 2 203803846 203803846 single base substitution C T intron_variant MELA-AU 2 203804353 203804353 single base substitution A T intron_variant MELA-AU 2 203804420 203804420 single base substitution T A intron_variant MELA-AU 2 203805912 203805912 single base substitution A C intron_variant MELA-AU 2 203806645 203806645 single base substitution C T intron_variant MELA-AU 2 203807023 203807023 single base substitution G A intron_variant MELA-AU 2 203808450 203808450 single base substitution A G intron_variant MELA-AU 2 203809517 203809517 single base substitution T G intron_variant MELA-AU 2 203809979 203809979 single base substitution C T intron_variant MELA-AU 2 203811129 203811129 single base substitution C G intron_variant MELA-AU 2 203811821 203811821 single base substitution C T intron_variant MELA-AU 2 203812003 203812003 single base substitution G A intron_variant MELA-AU 2 203812036 203812036 single base substitution C T intron_variant MELA-AU 2 203812129 203812129 single base substitution C T intron_variant MELA-AU 2 203812282 203812282 single base substitution A G intron_variant MELA-AU 2 203813031 203813031 single base substitution T C intron_variant MELA-AU 2 203813233 203813233 single base substitution C T intron_variant MELA-AU 2 203813347 203813347 single base substitution C T intron_variant MELA-AU 2 203813567 203813567 single base substitution C T intron_variant MELA-AU 2 203813600 203813600 single base substitution T A intron_variant MELA-AU 2 203813635 203813635 single base substitution C T intron_variant MELA-AU 2 203814011 203814011 single base substitution C T intron_variant MELA-AU 2 203814642 203814642 single base substitution T G intron_variant MELA-AU 2 203815132 203815132 single base substitution C T intron_variant MELA-AU 2 203815139 203815139 single base substitution C T intron_variant MELA-AU 2 203815417 203815417 single base substitution C T intron_variant MELA-AU 2 203815734 203815734 single base substitution A T intron_variant MELA-AU 2 203815747 203815747 single base substitution C T intron_variant MELA-AU 2 203815897 203815897 single base substitution G A intron_variant MELA-AU 2 203816773 203816773 single base substitution C T intron_variant MELA-AU 2 203817179 203817179 single base substitution C T intron_variant MELA-AU 2 203817287 203817287 single base substitution C T intron_variant MELA-AU 2 203817321 203817321 single base substitution C T intron_variant MELA-AU 2 203817638 203817638 single base substitution C T intron_variant MELA-AU 2 203817768 203817768 deletion of <=200bp C - intron_variant MELA-AU 2 203818165 203818165 single base substitution C T intron_variant MELA-AU 2 203818249 203818249 single base substitution C T intron_variant MELA-AU 2 203818581 203818581 single base substitution G A intron_variant MELA-AU 2 203818902 203818902 single base substitution G A intron_variant MELA-AU 2 203819311 203819311 single base substitution C A intron_variant MELA-AU 2 203819809 203819809 single base substitution C T intron_variant MELA-AU 2 203821018 203821018 single base substitution C T intron_variant MELA-AU 2 203821310 203821310 single base substitution C T intron_variant MELA-AU 2 203821440 203821440 single base substitution C T intron_variant MELA-AU 2 203821708 203821708 single base substitution T C intron_variant MELA-AU 2 203821742 203821742 single base substitution C T intron_variant MELA-AU 2 203821836 203821836 single base substitution T A intron_variant MELA-AU 2 203822150 203822150 single base substitution G A intron_variant MELA-AU 2 203822226 203822226 single base substitution C T intron_variant MELA-AU 2 203822345 203822345 single base substitution C T intron_variant MELA-AU 2 203822347 203822347 single base substitution C T intron_variant MELA-AU 2 203822490 203822490 single base substitution C A intron_variant MELA-AU 2 203822642 203822643 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 203823684 203823684 single base substitution G A intron_variant MELA-AU 2 203823973 203823973 single base substitution T C intron_variant MELA-AU 2 203824150 203824150 single base substitution C T intron_variant MELA-AU 2 203824257 203824257 single base substitution C T intron_variant MELA-AU 2 203824469 203824469 single base substitution T C intron_variant MELA-AU 2 203824527 203824527 single base substitution C T intron_variant MELA-AU 2 203824645 203824645 single base substitution C T intron_variant MELA-AU 2 203825153 203825153 single base substitution C T intron_variant MELA-AU 2 203825193 203825193 single base substitution G A intron_variant MELA-AU 2 203825288 203825288 single base substitution C T intron_variant MELA-AU 2 203825305 203825305 single base substitution T A intron_variant MELA-AU 2 203825452 203825453 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 203826108 203826108 single base substitution C T intron_variant MELA-AU 2 203826403 203826403 single base substitution C T intron_variant MELA-AU 2 203826474 203826474 single base substitution C T intron_variant MELA-AU 2 203827255 203827255 single base substitution C T intron_variant MELA-AU 2 203827336 203827336 single base substitution C T intron_variant MELA-AU 2 203827459 203827459 single base substitution C T intron_variant MELA-AU 2 203827802 203827802 single base substitution G A intron_variant MELA-AU 2 203828028 203828028 single base substitution G A intron_variant MELA-AU 2 203828064 203828064 single base substitution C T intron_variant MELA-AU 2 203828232 203828232 single base substitution G A intron_variant MELA-AU 2 203828734 203828734 single base substitution C T intron_variant MELA-AU 2 203828826 203828826 single base substitution C T intron_variant MELA-AU 2 203828943 203828943 single base substitution C T intron_variant MELA-AU 2 203829014 203829014 single base substitution T C intron_variant MELA-AU 2 203829563 203829571 deletion of <=200bp TCTAAAAGA - intron_variant MELA-AU 2 203829627 203829627 single base substitution C T intron_variant MELA-AU 2 203829636 203829636 single base substitution A G intron_variant MELA-AU 2 203830285 203830285 single base substitution T C intron_variant MELA-AU 2 203831103 203831103 single base substitution A G intron_variant MELA-AU 2 203831977 203831977 single base substitution C T intron_variant MELA-AU 2 203832998 203832998 single base substitution C T intron_variant MELA-AU 2 203833107 203833107 single base substitution A T intron_variant MELA-AU 2 203833378 203833378 single base substitution T G intron_variant MELA-AU 2 203833463 203833463 single base substitution C T intron_variant MELA-AU 2 203833680 203833680 single base substitution T C intron_variant MELA-AU 2 203833760 203833760 single base substitution C T intron_variant MELA-AU 2 203834320 203834320 single base substitution A T intron_variant MELA-AU 2 203834533 203834533 single base substitution A T intron_variant MELA-AU 2 203834753 203834753 single base substitution G C intron_variant MELA-AU 2 203834965 203834965 single base substitution C T intron_variant MELA-AU 2 203835436 203835436 single base substitution C T intron_variant MELA-AU 2 203836291 203836291 single base substitution C T intron_variant MELA-AU 2 203836313 203836313 single base substitution C T intron_variant MELA-AU 2 203836795 203836795 single base substitution A G intron_variant MELA-AU 2 203837537 203837537 single base substitution T C intron_variant MELA-AU 2 203837671 203837671 single base substitution T A intron_variant MELA-AU 2 203838121 203838121 single base substitution C T intron_variant MELA-AU 2 203838496 203838496 single base substitution G A intron_variant MELA-AU 2 203839170 203839170 single base substitution C T intron_variant MELA-AU 2 203839282 203839282 single base substitution T A intron_variant MELA-AU 2 203839632 203839632 single base substitution T A intron_variant MELA-AU 2 203840090 203840091 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 203840691 203840691 single base substitution C T intron_variant MELA-AU 2 203840795 203840795 single base substitution C T intron_variant MELA-AU 2 203840900 203840900 single base substitution A G intron_variant MELA-AU 2 203841353 203841353 single base substitution C T intron_variant MELA-AU 2 203841703 203841703 single base substitution G A intron_variant MELA-AU 2 203842367 203842367 single base substitution C T intron_variant MELA-AU 2 203842667 203842667 single base substitution C T intron_variant MELA-AU 2 203843087 203843087 single base substitution C T intron_variant MELA-AU 2 203843337 203843337 single base substitution G A intron_variant MELA-AU 2 203843576 203843576 single base substitution T C intron_variant MELA-AU 2 203843625 203843625 single base substitution G A intron_variant MELA-AU 2 203844306 203844306 single base substitution C T intron_variant MELA-AU 2 203844309 203844309 single base substitution A C intron_variant MELA-AU 2 203844406 203844406 single base substitution C T intron_variant MELA-AU 2 203844533 203844533 single base substitution A C intron_variant MELA-AU 2 203844603 203844603 single base substitution C T intron_variant MELA-AU 2 203844762 203844763 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 203845261 203845261 single base substitution C T intron_variant MELA-AU 2 203845718 203845718 single base substitution C G intron_variant MELA-AU 2 203845722 203845722 single base substitution C T intron_variant MELA-AU 2 203845947 203845947 single base substitution G A intron_variant MELA-AU 2 203846036 203846036 single base substitution G A intron_variant MELA-AU 2 203846112 203846112 single base substitution C T intron_variant MELA-AU 2 203846166 203846166 single base substitution C G intron_variant MELA-AU 2 203846761 203846761 single base substitution C T intron_variant MELA-AU 2 203846940 203846940 single base substitution A G intron_variant MELA-AU 2 203847403 203847403 single base substitution A G intron_variant MELA-AU 2 203847415 203847415 single base substitution C T intron_variant MELA-AU 2 203848867 203848867 single base substitution G A intron_variant MELA-AU 2 203849224 203849224 single base substitution C T intron_variant MELA-AU 2 203850219 203850219 single base substitution C T intron_variant MELA-AU 2 203850769 203850769 single base substitution C T intron_variant MELA-AU 2 203850920 203850920 single base substitution C T intron_variant MELA-AU 2 203851614 203851614 single base substitution T C intron_variant MELA-AU 2 203852047 203852047 single base substitution C T intron_variant MELA-AU 2 203852113 203852113 single base substitution C T intron_variant MELA-AU 2 203852174 203852174 single base substitution C T intron_variant MELA-AU 2 203852534 203852534 single base substitution T C intron_variant MELA-AU 2 203852788 203852788 single base substitution C T intron_variant MELA-AU 2 203852967 203852967 single base substitution C T intron_variant MELA-AU 2 203853006 203853006 single base substitution C T intron_variant MELA-AU 2 203853344 203853344 single base substitution C T intron_variant MELA-AU 2 203853547 203853547 single base substitution G T intron_variant MELA-AU 2 203855068 203855068 single base substitution C T intron_variant MELA-AU 2 203855197 203855197 single base substitution T G intron_variant MELA-AU 2 203855545 203855545 single base substitution T A intron_variant MELA-AU 2 203855584 203855584 single base substitution C T intron_variant MELA-AU 2 203856010 203856010 single base substitution C T intron_variant MELA-AU 2 203856194 203856195 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 203856857 203856857 single base substitution G A intron_variant MELA-AU 2 203858063 203858063 single base substitution C T intron_variant MELA-AU 2 203858066 203858066 single base substitution C T intron_variant MELA-AU 2 203858154 203858154 single base substitution C T intron_variant MELA-AU 2 203858502 203858502 single base substitution C T intron_variant MELA-AU 2 203858605 203858605 single base substitution C T intron_variant MELA-AU 2 203859176 203859176 single base substitution G A intron_variant MELA-AU 2 203859368 203859368 single base substitution C T intron_variant MELA-AU 2 203859476 203859476 single base substitution G A intron_variant MELA-AU 2 203860231 203860231 single base substitution C T intron_variant MELA-AU 2 203860476 203860476 single base substitution C T intron_variant MELA-AU 2 203860548 203860548 single base substitution G A intron_variant MELA-AU 2 203860744 203860744 single base substitution G A intron_variant MELA-AU 2 203860755 203860755 single base substitution C T intron_variant MELA-AU 2 203861010 203861010 single base substitution C T intron_variant MELA-AU 2 203861368 203861368 single base substitution T A intron_variant MELA-AU 2 203861577 203861577 single base substitution C T intron_variant MELA-AU 2 203861717 203861717 single base substitution C T intron_variant MELA-AU 2 203862193 203862193 single base substitution C T intron_variant MELA-AU 2 203862415 203862415 single base substitution A G intron_variant MELA-AU 2 203862431 203862431 single base substitution T A intron_variant MELA-AU 2 203862566 203862566 single base substitution G A intron_variant MELA-AU 2 203862729 203862729 single base substitution C A intron_variant MELA-AU 2 203862947 203862947 single base substitution C T intron_variant MELA-AU 2 203863189 203863189 single base substitution C T intron_variant MELA-AU 2 203863332 203863332 single base substitution C T intron_variant MELA-AU 2 203863817 203863817 single base substitution C T intron_variant MELA-AU 2 203863875 203863875 single base substitution C T intron_variant MELA-AU 2 203864069 203864069 single base substitution C T intron_variant MELA-AU 2 203864822 203864822 single base substitution C T intron_variant MELA-AU 2 203864964 203864964 single base substitution G A intron_variant MELA-AU 2 203865009 203865009 single base substitution G A intron_variant MELA-AU 2 203865085 203865085 single base substitution G A intron_variant MELA-AU 2 203865705 203865705 single base substitution C T intron_variant MELA-AU 2 203865734 203865734 single base substitution T G intron_variant MELA-AU 2 203865798 203865798 single base substitution C T intron_variant MELA-AU 2 203865920 203865920 single base substitution C T intron_variant MELA-AU 2 203866079 203866079 single base substitution G A intron_variant MELA-AU 2 203866711 203866711 single base substitution T C intron_variant MELA-AU 2 203867110 203867110 single base substitution C T intron_variant MELA-AU 2 203867606 203867606 single base substitution G A intron_variant MELA-AU 2 203867736 203867737 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 203868066 203868066 single base substitution T C intron_variant MELA-AU 2 203868113 203868113 single base substitution C T intron_variant MELA-AU 2 203868152 203868152 single base substitution C T intron_variant MELA-AU 2 203868314 203868314 single base substitution C T intron_variant MELA-AU 2 203868324 203868324 single base substitution C T intron_variant MELA-AU 2 203868374 203868375 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 2 203868433 203868433 single base substitution G A intron_variant MELA-AU 2 203868512 203868512 single base substitution G A intron_variant MELA-AU 2 203868536 203868536 single base substitution G A intron_variant MELA-AU 2 203869018 203869018 single base substitution C T intron_variant MELA-AU 2 203869220 203869220 single base substitution C T intron_variant MELA-AU 2 203869345 203869345 single base substitution G A intron_variant MELA-AU 2 203869475 203869476 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 203869855 203869855 single base substitution C T intron_variant MELA-AU 2 203870034 203870034 single base substitution C T intron_variant MELA-AU 2 203870381 203870381 single base substitution A G intron_variant MELA-AU 2 203870461 203870461 single base substitution G A intron_variant MELA-AU 2 203870559 203870559 single base substitution C T intron_variant MELA-AU 2 203870812 203870812 single base substitution A C intron_variant MELA-AU 2 203871118 203871118 single base substitution G A intron_variant MELA-AU 2 203871303 203871303 single base substitution G A intron_variant MELA-AU 2 203871364 203871364 single base substitution T C intron_variant MELA-AU 2 203871490 203871490 single base substitution G A intron_variant MELA-AU 2 203871606 203871606 single base substitution C A intron_variant MELA-AU 2 203871676 203871676 single base substitution C T intron_variant MELA-AU 2 203871695 203871695 single base substitution G A intron_variant MELA-AU 2 203871862 203871862 single base substitution C T intron_variant MELA-AU 2 203872147 203872147 single base substitution G A intron_variant MELA-AU 2 203872377 203872377 single base substitution C T intron_variant MELA-AU 2 203872620 203872620 single base substitution C T intron_variant MELA-AU 2 203872892 203872892 single base substitution T G intron_variant MELA-AU 2 203872905 203872905 single base substitution C T intron_variant MELA-AU 2 203873793 203873793 single base substitution C T intron_variant MELA-AU 2 203873888 203873888 single base substitution G A intron_variant MELA-AU 2 203874176 203874176 single base substitution G A intron_variant MELA-AU 2 203874229 203874229 single base substitution G A intron_variant MELA-AU 2 203875114 203875114 single base substitution G A intron_variant MELA-AU 2 203875478 203875478 single base substitution C T intron_variant MELA-AU 2 203875577 203875577 single base substitution G A intron_variant MELA-AU 2 203876243 203876243 single base substitution G A intron_variant MELA-AU 2 203876583 203876583 single base substitution C T intron_variant MELA-AU 2 203876613 203876613 single base substitution G A intron_variant MELA-AU 2 203876868 203876868 single base substitution C T intron_variant MELA-AU 2 203877109 203877109 single base substitution C T intron_variant MELA-AU 2 203877182 203877182 single base substitution G A intron_variant MELA-AU 2 203877288 203877288 single base substitution G A intron_variant MELA-AU 2 203877562 203877562 single base substitution G A intron_variant MELA-AU 2 203877717 203877717 single base substitution G A intron_variant MELA-AU 2 203877747 203877747 single base substitution C T intron_variant MELA-AU 2 203878194 203878194 single base substitution C T intron_variant MELA-AU 2 203879298 203879298 single base substitution G A exon_variant MELA-AU 2 203879554 203879554 single base substitution C T upstream_gene_variant MELA-AU 2 203879560 203879560 single base substitution C T upstream_gene_variant MELA-AU 2 203879587 203879587 single base substitution C T upstream_gene_variant MELA-AU 2 203879819 203879819 single base substitution T G upstream_gene_variant MELA-AU 2 203880138 203880138 single base substitution C T upstream_gene_variant MELA-AU 2 203880601 203880601 single base substitution G A upstream_gene_variant MELA-AU 2 203882032 203882032 single base substitution C T upstream_gene_variant MELA-AU 2 203882565 203882565 single base substitution C T upstream_gene_variant MELA-AU 2 203882819 203882819 single base substitution G A upstream_gene_variant ORCA-IN 2 203779435 203779435 single base substitution G C intron_variant ORCA-IN 2 203779435 203779435 single base substitution G C upstream_gene_variant ORCA-IN 2 203829606 203829606 single base substitution G A intron_variant ORCA-IN 2 203842052 203842052 single base substitution G C intron_variant ORCA-IN 2 203848320 203848320 single base substitution G T intron_variant OV-AU 2 203739433 203739433 single base substitution C A downstream_gene_variant OV-AU 2 203756924 203756924 single base substitution T G downstream_gene_variant OV-AU 2 203756924 203756924 single base substitution T G intron_variant OV-AU 2 203763465 203763465 single base substitution C T downstream_gene_variant OV-AU 2 203763465 203763465 single base substitution C T intron_variant OV-AU 2 203763465 203763465 single base substitution C T upstream_gene_variant OV-AU 2 203767415 203767415 single base substitution G A intron_variant OV-AU 2 203767415 203767415 single base substitution G A upstream_gene_variant OV-AU 2 203771083 203771083 single base substitution G A intron_variant OV-AU 2 203774874 203774874 single base substitution C A intron_variant OV-AU 2 203775812 203775812 single base substitution T C intron_variant OV-AU 2 203779621 203779621 single base substitution G T intron_variant OV-AU 2 203779621 203779621 single base substitution G T upstream_gene_variant OV-AU 2 203781671 203781671 single base substitution C T intron_variant OV-AU 2 203781671 203781671 single base substitution C T upstream_gene_variant OV-AU 2 203782883 203782883 single base substitution G T intron_variant OV-AU 2 203795173 203795173 single base substitution A C intron_variant OV-AU 2 203801165 203801165 single base substitution C G intron_variant OV-AU 2 203802900 203802900 single base substitution T C intron_variant OV-AU 2 203803245 203803245 single base substitution C T intron_variant OV-AU 2 203804094 203804094 single base substitution C T intron_variant OV-AU 2 203811414 203811414 single base substitution C T intron_variant OV-AU 2 203825624 203825624 single base substitution C T intron_variant OV-AU 2 203828068 203828068 single base substitution A T intron_variant OV-AU 2 203831255 203831255 single base substitution C G intron_variant OV-AU 2 203832492 203832492 single base substitution A G intron_variant OV-AU 2 203833098 203833098 single base substitution C G intron_variant OV-AU 2 203833285 203833285 single base substitution G C intron_variant OV-AU 2 203858794 203858794 single base substitution T C intron_variant OV-AU 2 203860128 203860128 single base substitution C T intron_variant OV-AU 2 203867017 203867017 single base substitution C G intron_variant OV-AU 2 203868823 203868823 single base substitution A T intron_variant OV-AU 2 203870422 203870422 single base substitution C G intron_variant OV-AU 2 203871829 203871829 single base substitution T C intron_variant OV-AU 2 203871948 203871948 single base substitution C T intron_variant OV-AU 2 203873662 203873662 single base substitution C G intron_variant OV-AU 2 203877378 203877378 single base substitution G T intron_variant OV-AU 2 203877385 203877385 single base substitution A G intron_variant OV-US 2 203807552 203807552 single base substitution T C intron_variant PACA-AU 2 203738384 203738384 single base substitution G A downstream_gene_variant PACA-AU 2 203740861 203740861 single base substitution T G 3_prime_UTR_variant PACA-AU 2 203740861 203740861 single base substitution T G downstream_gene_variant PACA-AU 2 203744749 203744749 single base substitution G A 3_prime_UTR_variant PACA-AU 2 203744749 203744749 single base substitution G A downstream_gene_variant PACA-AU 2 203750889 203750889 single base substitution A G intron_variant PACA-AU 2 203750889 203750889 single base substitution A G upstream_gene_variant PACA-AU 2 203755267 203755267 single base substitution T G intron_variant PACA-AU 2 203755410 203755410 single base substitution C T intron_variant PACA-AU 2 203764742 203764742 deletion of <=200bp G - intron_variant PACA-AU 2 203782031 203782031 single base substitution A C intron_variant PACA-AU 2 203787345 203787345 single base substitution T C intron_variant PACA-AU 2 203793613 203793613 single base substitution C T intron_variant PACA-AU 2 203794844 203794844 single base substitution C G intron_variant PACA-AU 2 203797604 203797604 single base substitution G A intron_variant PACA-AU 2 203798373 203798373 single base substitution G A intron_variant PACA-AU 2 203807610 203807610 single base substitution G A intron_variant PACA-AU 2 203809199 203809199 single base substitution C G intron_variant PACA-AU 2 203810946 203810946 single base substitution G T intron_variant PACA-AU 2 203811141 203811141 single base substitution A T intron_variant PACA-AU 2 203812083 203812083 single base substitution G A intron_variant PACA-AU 2 203814239 203814239 insertion of <=200bp - TTT intron_variant PACA-AU 2 203814262 203814262 single base substitution T A intron_variant PACA-AU 2 203814265 203814265 single base substitution T A intron_variant PACA-AU 2 203817642 203817642 single base substitution A C intron_variant PACA-AU 2 203819267 203819267 single base substitution C A intron_variant PACA-AU 2 203823373 203823373 single base substitution G A intron_variant PACA-AU 2 203825518 203825518 single base substitution T C intron_variant PACA-AU 2 203825522 203825522 single base substitution T C intron_variant PACA-AU 2 203828176 203828176 single base substitution G C intron_variant PACA-AU 2 203829266 203829266 single base substitution A C intron_variant PACA-AU 2 203829949 203829949 single base substitution G C intron_variant PACA-AU 2 203834353 203834353 single base substitution G A intron_variant PACA-AU 2 203834656 203834656 single base substitution A T intron_variant PACA-AU 2 203835530 203835530 single base substitution C A intron_variant PACA-AU 2 203837537 203837537 single base substitution T G intron_variant PACA-AU 2 203841432 203841432 single base substitution T A intron_variant PACA-AU 2 203844640 203844640 single base substitution C G intron_variant PACA-AU 2 203845483 203845483 deletion of <=200bp T - intron_variant PACA-AU 2 203846949 203846949 single base substitution G C intron_variant PACA-AU 2 203847674 203847674 single base substitution T G intron_variant PACA-AU 2 203851620 203851620 single base substitution T C intron_variant PACA-AU 2 203851624 203851624 single base substitution T C intron_variant PACA-AU 2 203852933 203852933 single base substitution C T intron_variant PACA-AU 2 203854283 203854283 insertion of <=200bp - A intron_variant PACA-AU 2 203855991 203855991 single base substitution A G intron_variant PACA-AU 2 203856490 203856490 single base substitution C T intron_variant PACA-AU 2 203864617 203864617 single base substitution C T intron_variant PACA-AU 2 203864992 203864992 single base substitution G A intron_variant PACA-AU 2 203865207 203865207 insertion of <=200bp - TTA intron_variant PACA-AU 2 203865718 203865718 single base substitution G A intron_variant PACA-AU 2 203868050 203868050 single base substitution G A intron_variant PACA-AU 2 203871960 203871960 single base substitution C G intron_variant PACA-AU 2 203873586 203873586 single base substitution G A intron_variant PACA-AU 2 203883046 203883048 deletion of <=200bp TCT - upstream_gene_variant PACA-CA 2 203735625 203735625 single base substitution G C downstream_gene_variant PACA-CA 2 203741494 203741494 deletion of <=200bp A - 3_prime_UTR_variant PACA-CA 2 203741494 203741494 deletion of <=200bp A - downstream_gene_variant PACA-CA 2 203743144 203743144 single base substitution A G 3_prime_UTR_variant PACA-CA 2 203743144 203743144 single base substitution A G downstream_gene_variant PACA-CA 2 203745930 203745930 single base substitution A G downstream_gene_variant PACA-CA 2 203745930 203745930 single base substitution A G intron_variant PACA-CA 2 203748861 203748861 single base substitution G C downstream_gene_variant PACA-CA 2 203748861 203748861 single base substitution G C intron_variant PACA-CA 2 203748861 203748861 single base substitution G C upstream_gene_variant PACA-CA 2 203755509 203755509 single base substitution A T intron_variant PACA-CA 2 203755828 203755833 deletion of <=200bp CAGGGA - downstream_gene_variant PACA-CA 2 203755828 203755833 deletion of <=200bp CAGGGA - intron_variant PACA-CA 2 203756220 203756220 single base substitution A G downstream_gene_variant PACA-CA 2 203756220 203756220 single base substitution A G intron_variant PACA-CA 2 203758130 203758130 deletion of <=200bp A - downstream_gene_variant PACA-CA 2 203758130 203758130 deletion of <=200bp A - intron_variant PACA-CA 2 203758130 203758130 deletion of <=200bp A - upstream_gene_variant PACA-CA 2 203761459 203761459 deletion of <=200bp C - downstream_gene_variant PACA-CA 2 203761459 203761459 deletion of <=200bp C - intron_variant PACA-CA 2 203761459 203761459 deletion of <=200bp C - upstream_gene_variant PACA-CA 2 203763162 203763162 single base substitution C T downstream_gene_variant PACA-CA 2 203763162 203763162 single base substitution C T intron_variant PACA-CA 2 203763162 203763162 single base substitution C T upstream_gene_variant PACA-CA 2 203767695 203767695 single base substitution G A intron_variant PACA-CA 2 203767695 203767695 single base substitution G A upstream_gene_variant PACA-CA 2 203768233 203768233 single base substitution A G intron_variant PACA-CA 2 203768233 203768233 single base substitution A G upstream_gene_variant PACA-CA 2 203769041 203769041 single base substitution C T intron_variant PACA-CA 2 203769041 203769041 single base substitution C T upstream_gene_variant PACA-CA 2 203774504 203774504 single base substitution T A intron_variant PACA-CA 2 203774505 203774505 single base substitution A T intron_variant PACA-CA 2 203776054 203776054 single base substitution G A intron_variant PACA-CA 2 203776218 203776218 single base substitution C G 5_prime_UTR_variant PACA-CA 2 203776218 203776218 single base substitution C G intron_variant PACA-CA 2 203788548 203788548 single base substitution C T intron_variant PACA-CA 2 203790511 203790511 single base substitution C T intron_variant PACA-CA 2 203791114 203791114 single base substitution G C intron_variant PACA-CA 2 203792795 203792795 single base substitution C T intron_variant PACA-CA 2 203793577 203793577 single base substitution C T intron_variant PACA-CA 2 203794419 203794419 single base substitution G A intron_variant PACA-CA 2 203794873 203794873 single base substitution C T intron_variant PACA-CA 2 203799093 203799093 single base substitution A G intron_variant PACA-CA 2 203801893 203801893 single base substitution C T intron_variant PACA-CA 2 203809411 203809411 single base substitution A G intron_variant PACA-CA 2 203810160 203810160 single base substitution G C intron_variant PACA-CA 2 203811330 203811330 single base substitution A G intron_variant PACA-CA 2 203813589 203813589 single base substitution G A intron_variant PACA-CA 2 203813793 203813793 single base substitution T G intron_variant PACA-CA 2 203813855 203813855 single base substitution G A intron_variant PACA-CA 2 203815188 203815188 single base substitution A G intron_variant PACA-CA 2 203816701 203816701 single base substitution G A intron_variant PACA-CA 2 203817415 203817415 single base substitution G A intron_variant PACA-CA 2 203817511 203817511 single base substitution G C intron_variant PACA-CA 2 203820834 203820834 single base substitution C A intron_variant PACA-CA 2 203822927 203822927 single base substitution T A intron_variant PACA-CA 2 203824072 203824072 single base substitution A G intron_variant PACA-CA 2 203826336 203826336 single base substitution T G intron_variant PACA-CA 2 203827873 203827873 single base substitution C G intron_variant PACA-CA 2 203829328 203829328 deletion of <=200bp A - intron_variant PACA-CA 2 203829623 203829623 single base substitution T C intron_variant PACA-CA 2 203829625 203829625 single base substitution C T intron_variant PACA-CA 2 203831820 203831820 single base substitution C T intron_variant PACA-CA 2 203836253 203836253 single base substitution C G intron_variant PACA-CA 2 203836327 203836341 deletion of <=200bp TGAAGAAGAGGAAAC - intron_variant PACA-CA 2 203836613 203836613 single base substitution A C intron_variant PACA-CA 2 203836900 203836900 single base substitution T C intron_variant PACA-CA 2 203837094 203837094 single base substitution A G intron_variant PACA-CA 2 203839177 203839177 single base substitution A C intron_variant PACA-CA 2 203839666 203839666 single base substitution T A intron_variant PACA-CA 2 203841922 203841922 single base substitution G A intron_variant PACA-CA 2 203842858 203842858 single base substitution T G intron_variant PACA-CA 2 203847796 203847796 single base substitution A T intron_variant PACA-CA 2 203848307 203848307 insertion of <=200bp - A intron_variant PACA-CA 2 203853504 203853504 single base substitution C T intron_variant PACA-CA 2 203855414 203855414 single base substitution C T intron_variant PACA-CA 2 203855681 203855681 single base substitution A G intron_variant PACA-CA 2 203860052 203860060 deletion of <=200bp GGCAAAGTA - intron_variant PACA-CA 2 203860656 203860656 single base substitution T G intron_variant PACA-CA 2 203863600 203863600 single base substitution G A intron_variant PACA-CA 2 203869760 203869760 single base substitution C T intron_variant PACA-CA 2 203870673 203870673 single base substitution C G intron_variant PACA-CA 2 203871372 203871372 single base substitution T C intron_variant PACA-CA 2 203873332 203873332 single base substitution G A intron_variant PACA-CA 2 203876030 203876030 single base substitution A T intron_variant PACA-CA 2 203877090 203877090 single base substitution G C intron_variant PACA-CA 2 203877928 203877928 single base substitution A G intron_variant PACA-CA 2 203880476 203880476 single base substitution C T upstream_gene_variant PACA-CA 2 203882113 203882113 single base substitution A G upstream_gene_variant PAEN-AU 2 203751695 203751695 single base substitution G C intron_variant PAEN-AU 2 203751695 203751695 single base substitution G C upstream_gene_variant PAEN-AU 2 203788418 203788418 single base substitution G A intron_variant PAEN-AU 2 203797448 203797448 single base substitution G T intron_variant PAEN-AU 2 203814239 203814239 insertion of <=200bp - TTT intron_variant PAEN-AU 2 203818230 203818230 single base substitution T C intron_variant PAEN-AU 2 203841599 203841599 single base substitution A G intron_variant PAEN-AU 2 203872806 203872806 single base substitution G A intron_variant PAEN-IT 2 203739628 203739628 single base substitution A C 3_prime_UTR_variant PAEN-IT 2 203796586 203796586 single base substitution T A intron_variant PAEN-IT 2 203868135 203868135 single base substitution T G intron_variant PAEN-IT 2 203874546 203874546 single base substitution C T intron_variant PBCA-DE 2 203734605 203734605 single base substitution G A downstream_gene_variant PBCA-DE 2 203746217 203746217 single base substitution G A downstream_gene_variant PBCA-DE 2 203746217 203746217 single base substitution G A intron_variant PBCA-DE 2 203746315 203746315 single base substitution G A downstream_gene_variant PBCA-DE 2 203746315 203746315 single base substitution G A intron_variant PBCA-DE 2 203747287 203747287 single base substitution G A downstream_gene_variant PBCA-DE 2 203747287 203747287 single base substitution G A intron_variant PBCA-DE 2 203778925 203778925 single base substitution C G intron_variant PBCA-DE 2 203778925 203778925 single base substitution C G upstream_gene_variant PBCA-DE 2 203782715 203782715 single base substitution G A intron_variant PBCA-DE 2 203782822 203782822 single base substitution A C intron_variant PBCA-DE 2 203796295 203796295 single base substitution T C intron_variant PBCA-DE 2 203802984 203802984 single base substitution G C intron_variant PBCA-DE 2 203803373 203803373 single base substitution G A intron_variant PBCA-DE 2 203809526 203809526 single base substitution T C intron_variant PBCA-DE 2 203809528 203809528 single base substitution C A intron_variant PBCA-DE 2 203817748 203817748 deletion of <=200bp T - intron_variant PBCA-DE 2 203828827 203828827 single base substitution G A intron_variant PBCA-DE 2 203832000 203832000 single base substitution T G intron_variant PBCA-DE 2 203847827 203847827 single base substitution C G intron_variant PBCA-DE 2 203852704 203852704 single base substitution C T intron_variant PBCA-DE 2 203853347 203853347 deletion of <=200bp T - intron_variant PBCA-DE 2 203856622 203856622 single base substitution G A intron_variant PBCA-DE 2 203863644 203863644 single base substitution C T intron_variant PBCA-DE 2 203865799 203865800 deletion of <=200bp GT - intron_variant PBCA-DE 2 203866277 203866277 single base substitution T C intron_variant PBCA-DE 2 203867213 203867214 deletion of <=200bp GA - intron_variant PBCA-DE 2 203867521 203867521 single base substitution A T intron_variant PBCA-DE 2 203867876 203867876 insertion of <=200bp - T intron_variant PBCA-DE 2 203869957 203869957 single base substitution A G intron_variant PBCA-DE 2 203870262 203870262 deletion of <=200bp A - intron_variant PBCA-DE 2 203872200 203872200 single base substitution C T intron_variant PRAD-CA 2 203756852 203756852 single base substitution C G downstream_gene_variant PRAD-CA 2 203756852 203756852 single base substitution C G intron_variant PRAD-CA 2 203780561 203780561 single base substitution G T intron_variant PRAD-CA 2 203780561 203780561 single base substitution G T upstream_gene_variant PRAD-CA 2 203796450 203796450 single base substitution G C intron_variant PRAD-CA 2 203799847 203799847 single base substitution T A intron_variant PRAD-CA 2 203805391 203805391 single base substitution A G intron_variant PRAD-CA 2 203819668 203819668 single base substitution C T intron_variant PRAD-CA 2 203821552 203821552 single base substitution C T intron_variant PRAD-CA 2 203829625 203829625 single base substitution C T intron_variant PRAD-CA 2 203850281 203850281 single base substitution G T intron_variant PRAD-CA 2 203851608 203851608 single base substitution T C intron_variant PRAD-CA 2 203851614 203851614 single base substitution T C intron_variant PRAD-CA 2 203858091 203858091 single base substitution C G intron_variant PRAD-UK 2 203735153 203735153 single base substitution C T downstream_gene_variant PRAD-UK 2 203739069 203739069 insertion of <=200bp - G downstream_gene_variant PRAD-UK 2 203747927 203747927 single base substitution C T downstream_gene_variant PRAD-UK 2 203747927 203747927 single base substitution C T intron_variant PRAD-UK 2 203747927 203747927 single base substitution C T upstream_gene_variant PRAD-UK 2 203764447 203764447 single base substitution C T intron_variant PRAD-UK 2 203764447 203764447 single base substitution C T upstream_gene_variant PRAD-UK 2 203768162 203768162 single base substitution A C intron_variant PRAD-UK 2 203768162 203768162 single base substitution A C upstream_gene_variant PRAD-UK 2 203769498 203769498 single base substitution C T intron_variant PRAD-UK 2 203769498 203769498 single base substitution C T upstream_gene_variant PRAD-UK 2 203792057 203792057 single base substitution C T intron_variant PRAD-UK 2 203799112 203799112 single base substitution C G intron_variant PRAD-UK 2 203813588 203813588 single base substitution C T intron_variant PRAD-UK 2 203816654 203816654 single base substitution C T intron_variant PRAD-UK 2 203839622 203839622 insertion of <=200bp - A intron_variant PRAD-UK 2 203849552 203849552 single base substitution G A intron_variant PRAD-UK 2 203865086 203865086 insertion of <=200bp - A intron_variant PRAD-UK 2 203865093 203865093 insertion of <=200bp - A intron_variant PRAD-UK 2 203873570 203873570 single base substitution G A intron_variant PRAD-UK 2 203873668 203873668 single base substitution G C intron_variant PRAD-US 2 203839140 203839140 single base substitution T C intron_variant READ-US 2 203817322 203817322 single base substitution G A intron_variant READ-US 2 203836409 203836409 single base substitution G T intron_variant RECA-EU 2 203745090 203745090 single base substitution G T 3_prime_UTR_variant RECA-EU 2 203745090 203745090 single base substitution G T downstream_gene_variant RECA-EU 2 203767773 203767773 single base substitution G A intron_variant RECA-EU 2 203767773 203767773 single base substitution G A upstream_gene_variant RECA-EU 2 203770575 203770575 single base substitution G C intron_variant RECA-EU 2 203770575 203770575 single base substitution G C upstream_gene_variant RECA-EU 2 203792758 203792758 single base substitution G T intron_variant RECA-EU 2 203796973 203796973 single base substitution A C intron_variant RECA-EU 2 203799427 203799427 single base substitution C A intron_variant RECA-EU 2 203809526 203809526 single base substitution T C intron_variant RECA-EU 2 203856128 203856128 single base substitution A T intron_variant RECA-EU 2 203874355 203874355 single base substitution C T intron_variant RECA-EU 2 203877426 203877426 single base substitution G C intron_variant RECA-EU 2 203883825 203883825 single base substitution G C upstream_gene_variant SKCA-BR 2 203738181 203738181 single base substitution G A downstream_gene_variant SKCA-BR 2 203741836 203741837 deletion of <=200bp TA - 3_prime_UTR_variant SKCA-BR 2 203741836 203741837 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 2 203745762 203745762 single base substitution G A downstream_gene_variant SKCA-BR 2 203745762 203745762 single base substitution G A intron_variant SKCA-BR 2 203747879 203747879 single base substitution G A downstream_gene_variant SKCA-BR 2 203747879 203747879 single base substitution G A intron_variant SKCA-BR 2 203747879 203747879 single base substitution G A upstream_gene_variant SKCA-BR 2 203750437 203750437 single base substitution A G intron_variant SKCA-BR 2 203750437 203750437 single base substitution A G upstream_gene_variant SKCA-BR 2 203750491 203750491 single base substitution G C intron_variant SKCA-BR 2 203750491 203750491 single base substitution G C upstream_gene_variant SKCA-BR 2 203750807 203750807 single base substitution G A intron_variant SKCA-BR 2 203750807 203750807 single base substitution G A upstream_gene_variant SKCA-BR 2 203751490 203751490 insertion of <=200bp - CA intron_variant SKCA-BR 2 203751490 203751490 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 2 203753189 203753189 single base substitution G A intron_variant SKCA-BR 2 203753189 203753189 single base substitution G A upstream_gene_variant SKCA-BR 2 203753876 203753876 single base substitution G A intron_variant SKCA-BR 2 203753876 203753876 single base substitution G A upstream_gene_variant SKCA-BR 2 203759597 203759597 single base substitution G A downstream_gene_variant SKCA-BR 2 203759597 203759597 single base substitution G A intron_variant SKCA-BR 2 203759597 203759597 single base substitution G A upstream_gene_variant SKCA-BR 2 203761194 203761194 single base substitution A C downstream_gene_variant SKCA-BR 2 203761194 203761194 single base substitution A C intron_variant SKCA-BR 2 203761194 203761194 single base substitution A C upstream_gene_variant SKCA-BR 2 203762402 203762402 single base substitution G A downstream_gene_variant SKCA-BR 2 203762402 203762402 single base substitution G A intron_variant SKCA-BR 2 203762402 203762402 single base substitution G A upstream_gene_variant SKCA-BR 2 203762403 203762403 single base substitution G A downstream_gene_variant SKCA-BR 2 203762403 203762403 single base substitution G A intron_variant SKCA-BR 2 203762403 203762403 single base substitution G A upstream_gene_variant SKCA-BR 2 203762631 203762631 single base substitution A T downstream_gene_variant SKCA-BR 2 203762631 203762631 single base substitution A T intron_variant SKCA-BR 2 203762631 203762631 single base substitution A T upstream_gene_variant SKCA-BR 2 203767977 203767977 single base substitution G A intron_variant SKCA-BR 2 203767977 203767977 single base substitution G A upstream_gene_variant SKCA-BR 2 203768169 203768181 deletion of <=200bp TGGAAGGAAGGAA - intron_variant SKCA-BR 2 203768169 203768181 deletion of <=200bp TGGAAGGAAGGAA - upstream_gene_variant SKCA-BR 2 203771016 203771016 single base substitution G A intron_variant SKCA-BR 2 203779514 203779515 deletion of <=200bp AC - intron_variant SKCA-BR 2 203779514 203779515 deletion of <=200bp AC - upstream_gene_variant SKCA-BR 2 203782739 203782739 single base substitution G A intron_variant SKCA-BR 2 203786256 203786256 single base substitution C T intron_variant SKCA-BR 2 203786287 203786287 single base substitution A G intron_variant SKCA-BR 2 203790108 203790108 single base substitution A C exon_variant SKCA-BR 2 203791076 203791076 single base substitution C T intron_variant SKCA-BR 2 203795464 203795464 single base substitution T C intron_variant SKCA-BR 2 203798583 203798583 single base substitution T C intron_variant SKCA-BR 2 203799824 203799824 insertion of <=200bp - AATATATAATTATATATAATT intron_variant SKCA-BR 2 203800047 203800051 deletion of <=200bp TTATA - intron_variant SKCA-BR 2 203800559 203800559 single base substitution G A intron_variant SKCA-BR 2 203801882 203801882 single base substitution C T intron_variant SKCA-BR 2 203802182 203802182 single base substitution A T intron_variant SKCA-BR 2 203802653 203802653 insertion of <=200bp - TA intron_variant SKCA-BR 2 203804955 203804955 single base substitution C T intron_variant SKCA-BR 2 203805160 203805160 single base substitution C T intron_variant SKCA-BR 2 203809463 203809463 single base substitution C T intron_variant SKCA-BR 2 203810130 203810130 single base substitution C T intron_variant SKCA-BR 2 203813202 203813202 single base substitution C T intron_variant SKCA-BR 2 203813480 203813480 single base substitution G A intron_variant SKCA-BR 2 203814239 203814239 insertion of <=200bp - TTTTTTA intron_variant SKCA-BR 2 203814242 203814242 single base substitution A T intron_variant SKCA-BR 2 203815769 203815769 single base substitution C T intron_variant SKCA-BR 2 203817896 203817896 single base substitution C T intron_variant SKCA-BR 2 203821704 203821704 single base substitution G T intron_variant SKCA-BR 2 203823626 203823626 insertion of <=200bp - CA intron_variant SKCA-BR 2 203824035 203824035 single base substitution G A intron_variant SKCA-BR 2 203825227 203825227 single base substitution C T intron_variant SKCA-BR 2 203829606 203829606 insertion of <=200bp - GTATA intron_variant SKCA-BR 2 203829849 203829849 single base substitution C T intron_variant SKCA-BR 2 203833066 203833066 single base substitution A C intron_variant SKCA-BR 2 203834301 203834305 deletion of <=200bp AAAAT - intron_variant SKCA-BR 2 203834942 203834942 single base substitution C A intron_variant SKCA-BR 2 203840161 203840161 single base substitution C T intron_variant SKCA-BR 2 203841578 203841578 single base substitution A C intron_variant SKCA-BR 2 203842165 203842165 single base substitution C T intron_variant SKCA-BR 2 203848236 203848236 single base substitution A T intron_variant SKCA-BR 2 203851392 203851392 single base substitution C T intron_variant SKCA-BR 2 203851591 203851591 single base substitution G A intron_variant SKCA-BR 2 203851609 203851609 insertion of <=200bp - ATACG intron_variant SKCA-BR 2 203851626 203851626 single base substitution T C intron_variant SKCA-BR 2 203853249 203853249 single base substitution C T intron_variant SKCA-BR 2 203853346 203853346 insertion of <=200bp - CT intron_variant SKCA-BR 2 203854737 203854737 single base substitution C T intron_variant SKCA-BR 2 203855296 203855296 single base substitution C T intron_variant SKCA-BR 2 203855297 203855297 single base substitution C T intron_variant SKCA-BR 2 203856127 203856129 deletion of <=200bp TAA - intron_variant SKCA-BR 2 203857508 203857508 single base substitution T A intron_variant SKCA-BR 2 203863451 203863451 single base substitution T C intron_variant SKCA-BR 2 203864406 203864406 single base substitution G A intron_variant SKCA-BR 2 203868077 203868077 single base substitution G A intron_variant SKCA-BR 2 203870124 203870124 single base substitution G A intron_variant SKCA-BR 2 203870884 203870884 single base substitution G A intron_variant SKCA-BR 2 203871689 203871689 single base substitution C A intron_variant SKCA-BR 2 203872246 203872246 single base substitution C T intron_variant SKCA-BR 2 203874823 203874823 single base substitution G T intron_variant SKCA-BR 2 203875549 203875549 single base substitution C T intron_variant SKCA-BR 2 203876437 203876437 single base substitution A G intron_variant SKCA-BR 2 203879298 203879298 single base substitution G A exon_variant SKCM-US 2 203748933 203748933 single base substitution G A downstream_gene_variant SKCM-US 2 203748933 203748933 single base substitution G A exon_variant SKCM-US 2 203748933 203748933 single base substitution G A missense_variant P326S 976C>T SKCM-US 2 203748933 203748933 single base substitution G A upstream_gene_variant SKCM-US 2 203759326 203759326 single base substitution C T downstream_gene_variant SKCM-US 2 203759326 203759326 single base substitution C T exon_variant SKCM-US 2 203759326 203759326 single base substitution C T synonymous_variant K211K 633G>A SKCM-US 2 203759326 203759326 single base substitution C T upstream_gene_variant SKCM-US 2 203762097 203762097 single base substitution G A downstream_gene_variant SKCM-US 2 203762097 203762097 single base substitution G A exon_variant SKCM-US 2 203762097 203762097 single base substitution G A missense_variant S127F 380C>T SKCM-US 2 203762097 203762097 single base substitution G A upstream_gene_variant SKCM-US 2 203765755 203765755 single base substitution A G exon_variant SKCM-US 2 203765755 203765755 single base substitution A G missense_variant I75T 224T>C SKCM-US 2 203806695 203806695 single base substitution G A intron_variant SKCM-US 2 203807494 203807494 single base substitution C T intron_variant SKCM-US 2 203807618 203807618 single base substitution C T intron_variant SKCM-US 2 203817287 203817287 single base substitution C T intron_variant SKCM-US 2 203817384 203817384 single base substitution G A intron_variant SKCM-US 2 203825973 203825973 single base substitution C T intron_variant SKCM-US 2 203834641 203834641 single base substitution G A intron_variant SKCM-US 2 203834748 203834748 single base substitution C T intron_variant SKCM-US 2 203839116 203839116 single base substitution C T intron_variant SKCM-US 2 203839124 203839124 single base substitution C T intron_variant SKCM-US 2 203839170 203839170 single base substitution C T intron_variant SKCM-US 2 203846296 203846296 single base substitution C T intron_variant SKCM-US 2 203846876 203846876 single base substitution C T intron_variant STAD-US 2 203745590 203745590 single base substitution C T downstream_gene_variant STAD-US 2 203745590 203745590 single base substitution C T exon_variant STAD-US 2 203745590 203745590 single base substitution C T missense_variant G422E 1265G>A STAD-US 2 203749137 203749137 single base substitution C T exon_variant STAD-US 2 203749137 203749137 single base substitution C T missense_variant G288D 863G>A STAD-US 2 203749137 203749137 single base substitution C T upstream_gene_variant STAD-US 2 203764352 203764352 single base substitution A G exon_variant STAD-US 2 203764352 203764352 single base substitution A G synonymous_variant V80V 240T>C STAD-US 2 203764352 203764352 single base substitution A G upstream_gene_variant STAD-US 2 203772679 203772679 single base substitution A G exon_variant STAD-US 2 203772679 203772679 single base substitution A G synonymous_variant Y15Y 45T>C STAD-US 2 203807539 203807539 single base substitution G A intron_variant STAD-US 2 203817394 203817394 single base substitution G A intron_variant STAD-US 2 203839206 203839206 single base substitution T A intron_variant STAD-US 2 203846292 203846292 single base substitution G T intron_variant STAD-US 2 203848308 203848308 insertion of <=200bp - A intron_variant THCA-SA 2 203736096 203736096 single base substitution G A downstream_gene_variant UCEC-US 2 203748385 203748385 single base substitution C T downstream_gene_variant UCEC-US 2 203748385 203748385 single base substitution C T exon_variant UCEC-US 2 203748385 203748385 single base substitution C T synonymous_variant Q356Q 1068G>A UCEC-US 2 203748385 203748385 single base substitution C T upstream_gene_variant UCEC-US 2 203749014 203749014 single base substitution C T exon_variant UCEC-US 2 203749014 203749014 single base substitution C T missense_variant V299M 895G>A UCEC-US 2 203749014 203749014 single base substitution C T upstream_gene_variant UCEC-US 2 203760861 203760861 single base substitution A C downstream_gene_variant UCEC-US 2 203760861 203760861 single base substitution A C exon_variant UCEC-US 2 203760861 203760861 single base substitution A C missense_variant V179G 536T>G UCEC-US 2 203760861 203760861 single base substitution A C upstream_gene_variant UCEC-US 2 203762044 203762044 single base substitution C A downstream_gene_variant UCEC-US 2 203762044 203762044 single base substitution C A exon_variant UCEC-US 2 203762044 203762044 single base substitution C A missense_variant D145Y 433G>T UCEC-US 2 203762044 203762044 single base substitution C A upstream_gene_variant UCEC-US 2 203764346 203764346 single base substitution T G exon_variant UCEC-US 2 203764346 203764346 single base substitution T G missense_variant E82D 246A>C UCEC-US 2 203764346 203764346 single base substitution T G upstream_gene_variant UCEC-US 2 203807664 203807664 single base substitution T C intron_variant UCEC-US 2 203826149 203826149 single base substitution G T intron_variant UCEC-US 2 203826163 203826163 single base substitution G T intron_variant UCEC-US 2 203834657 203834657 single base substitution G T intron_variant UCEC-US 2 203846925 203846925 single base substitution C A intron_variant UCEC-US 2 203847107 203847107 single base substitution C A intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand S00472 COSM5657806 c.1178A>T p.D393V Substitution - Missense 2:202882727-202882727 - YUMER COSM1691850 c.502C>T p.L168F Substitution - Missense 2:202896172-202896172 - CSCC-52-T COSM4553610 c.596G>A p.G199D Substitution - Missense 2:202896078-202896078 - TCGA-FS-A1Z3-06 COSM3576446 c.633G>A p.K211K Substitution - coding silent 2:202894603-202894603 - Pat_01_A COSM5861532 c.697C>T p.R233* Substitution - Nonsense 2:202892661-202892661 - TCGA-AP-A0LT-01 COSM1015037 c.536T>G p.V179G Substitution - Missense 2:202896138-202896138 - ESCC-070T COSM3938876 c.94G>A p.D32N Substitution - Missense 2:202907907-202907907 - TC71 COSM2908138 c.1197A>C p.L399L Substitution - coding silent 2:202880935-202880935 - T3724 COSM4740844 c.545T>C p.L182P Substitution - Missense 2:202896129-202896129 - S02293 COSM5688510 c.275C>T p.P92L Substitution - Missense 2:202899594-202899594 - HCC2998 COSM1669667 c.980G>A p.R327Q Substitution - Missense 2:202884206-202884206 - TCGA-AX-A0J1-01 COSM1015034 c.1068G>A p.Q356Q Substitution - coding silent 2:202883662-202883662 - TCGA-BS-A0UM-01 COSM1015040 c.73C>T p.P25S Substitution - Missense 2:202907928-202907928 - TCGA-D1-A17Q-01 COSM1015038 c.433G>T p.D145Y Substitution - Missense 2:202897321-202897321 - TCGA-J7-6720-01 COSM3990985 c.371G>A p.R124Q Substitution - Missense 2:202897383-202897383 - CSCC-20-T COSM4523286 c.1207G>A p.G403R Substitution - Missense 2:202880925-202880925 - 2334187 COSM324285 c.317C>T p.S106L Substitution - Missense 2:202899552-202899552 - CHC1052T COSM251203 c.664G>C p.D222H Substitution - Missense 2:202892694-202892694 - TCGA-BR-8680-01 COSM4090316 c.863G>A p.G288D Substitution - Missense 2:202884414-202884414 - YUROG COSM5395965 c.566C>T p.A189V Substitution - Missense 2:202896108-202896108 - TCGA-BS-A0UM-01 COSM1015036 c.627G>T p.W209C Substitution - Missense 2:202894609-202894609 - 1517_CLM COSM5755950 c.741+1G>A p.? Unknown 2:202892616-202892616 - TCGA-D9-A4Z3-01 COSM3576447 c.380C>T p.S127F Substitution - Missense 2:202897374-202897374 - 345973 COSM3726393 c.959A>G p.H320R Substitution - Missense 2:202884227-202884227 - P01-28 COSM248316 c.389G>A p.G130E Substitution - Missense 2:202897365-202897365 - SNUH_G76_S1 COSM2908151 c.231+10A>G p.? Unknown 2:202901015-202901015 - HX19T COSM1614166 c.728T>A p.L243* Substitution - Nonsense 2:202892630-202892630 - TCGA-OL-A5RW-01 COSM3838333 c.1140T>A p.Y380* Substitution - Nonsense 2:202882765-202882765 - RKO COSM2908142 c.1131T>C p.A377A Substitution - coding silent 2:202882774-202882774 - TCGA-BR-4201-01 COSM4090318 c.45T>C p.Y15Y Substitution - coding silent 2:202907956-202907956 - AA1830 COSM4168752 c.775G>A p.A259T Substitution - Missense 2:202884502-202884502 - Pat_01_B COSM5861532 c.697C>T p.R233* Substitution - Nonsense 2:202892661-202892661 - sysucc-783T COSM5484458 c.191T>C p.M64T Substitution - Missense 2:202901065-202901065 - LC_S13 COSM1190729 c.171_173delTAA p.I57_K58>M Complex - deletion inframe 2:202901083-202901085 - 587222 COSM1232548 c.187C>T p.R63* Substitution - Nonsense 2:202901069-202901069 - BN42 COSM1614166 c.728T>A p.L243* Substitution - Nonsense 2:202892630-202892630 - TCGA-D3-A2J8-06 COSM3576445 c.976C>T p.P326S Substitution - Missense 2:202884210-202884210 - SC_9008 COSM5549705 c.1151C>T p.A384V Substitution - Missense 2:202882754-202882754 - TCGA-BR-4361-01 COSM4090317 c.240T>C p.V80V Substitution - coding silent 2:202899629-202899629 - CHC1052T COSM251203 c.664G>C p.D222H Substitution - Missense 2:202892694-202892694 - TCGA-33-4533-01 COSM719726 c.1060C>T p.H354Y Substitution - Missense 2:202883670-202883670 - LUAD-NYU1026 COSM368307 c.1271G>A p.*424* Substitution - coding silent 2:202880861-202880861 - C086 COSM5541700 c.1258C>T p.H420Y Substitution - Missense 2:202880874-202880874 - LP6007546-DNA_A01 COSM5952480 c.883-8T>G p.? Unknown 2:202884311-202884311 - BN42T COSM1614166 c.728T>A p.L243* Substitution - Nonsense 2:202892630-202892630 - TCGA-AP-A059-01 COSM1015035 c.895G>A p.V299M Substitution - Missense 2:202884291-202884291 - PD11368a COSM5786336 c.363G>A p.K121K Substitution - coding silent 2:202897391-202897391 - B34 COSM1757042 c.136+1G>T p.? Unknown 2:202907864-202907864 - TCGA-EE-A2MI-06 COSM3576447 c.380C>T p.S127F Substitution - Missense 2:202897374-202897374 - T25 COSM2908150 c.339G>C p.W113C Substitution - Missense 2:202897415-202897415 - TCGA-60-2698-01 COSM719725 c.502C>G p.L168V Substitution - Missense 2:202896172-202896172 - TCGA-BI-A0VS-01 COSM4830628 c.1109G>T p.W370L Substitution - Missense 2:202883621-202883621 - YUKIL COSM1691849 c.658C>T p.P220S Substitution - Missense 2:202892700-202892700 - TCGA-60-2723-01 COSM719724 c.445G>T p.V149L Substitution - Missense 2:202897309-202897309 - M014 COSM1738675 c.239T>C p.V80A Substitution - Missense 2:202899630-202899630 - RK062_C01 COSM1631742 c.907A>G p.I303V Substitution - Missense 2:202884279-202884279 - SC_9005 COSM5552185 c.1217A>G p.D406G Substitution - Missense 2:202880915-202880915 - CLL115 COSM1291412 c.286C>T p.Q96* Substitution - Nonsense 2:202899583-202899583 - ESO-632 COSM1270370 c.868C>G p.L290V Substitution - Missense 2:202884409-202884409 - RK007_C01 COSM1631741 c.995C>T p.S332F Substitution - Missense 2:202883735-202883735 - HCC2998 COSM1669667 c.980G>A p.R327Q Substitution - Missense 2:202884206-202884206 - TCGA-AP-A0LM-01 COSM1015039 c.246A>C p.E82D Substitution - Missense 2:202899623-202899623 - TCGA-BR-4256-01 COSM4090315 c.1265G>A p.G422E Substitution - Missense 2:202880867-202880867 - TCGA-GD-A2C5-01 COSM1306317 c.230C>T p.S77L Substitution - Missense 2:202901026-202901026 - pfg008T COSM1641793 c.542_560del19 p.A181fs*6 Deletion - Frameshift 2:202896114-202896132 - HCC063T COSM5812523 c.359A>T p.D120V Substitution - Missense 2:202897395-202897395 - pfg008T COSM1641793 c.542_560del19 p.A181fs*6 Deletion - Frameshift 2:202896114-202896132 - ME032T COSM227234 c.497C>T p.T166I Substitution - Missense 2:202896177-202896177 - B34-Tumor COSM1757042 c.136+1G>T p.? Unknown 2:202907864-202907864 - TCGA-EE-A3AB-06 COSM3576448 c.224T>C p.I75T Substitution - Missense 2:202901032-202901032 - T25 COSM5343970 c.355T>C p.Y119H Substitution - Missense 2:202897399-202897399 - Pat_01_A COSM5861533 c.478A>G p.S160G Substitution - Missense 2:202896196-202896196 - ESO-1872 COSM1270369 c.439G>T p.A147S Substitution - Missense 2:202897315-202897315 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.73232;Hs.73291 2q33.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.V179G c.536T>G 2 203760861 UCEC A G Missense p.I75T c.224T>C 2 203765755 CM A G Synonymous p.G187G c.561T>C 2 203760836 CM A G Synonymous p.Y15Y c.45T>C 2 203772679 STAD C A Missense p.A147S c.439G>T 2 203762038 ESCA C A Missense p.V149L c.445G>T 2 203762032 LUSC CC AA Missense p.G138* c.411_412delinsTT 2 203762065 CM CC AA Missense p.W170F c.509_510delinsTT 2 203760887 CM CC AA Missense p.W344F c.1031_1032delinsTT 2 203748421 CM CCTCTACAGCAGTGTAGGG - Frameshift p.A181Vfs*6 c.542_560delCCCTACACTGCTGTAGAGG 2 203760837 STAD C G Missense p.E84Q c.250G>C 2 203764342 HNSC C T Missense p.G422E c.1265G>A 2 203745590 STAD C T Synonymous p.K211K c.633G>A 2 203759326 CM G A Missense p.H354Y c.1060C>T 2 203748393 LUSC G A Missense p.P326S c.976C>T 2 203748933 CM G A Missense p.S106L c.317C>T 2 203764275 SCLC G A Missense p.S127F c.380C>T 2 203762097 CM G A Missense p.S332F c.995C>T 2 203748458 HC G A Missense p.S77L c.230C>T 2 203765749 BLCA G A Missense p.T166I c.497C>T 2 203760900 CM G A Nonsense p.Q96* c.286C>T 2 203764306 CLL G A Synonymous p.I104I c.312C>T 2 203764280 LUAD G A Synonymous p.S127S c.381C>T 2 203762096 CM G A Synonymous p.S337S c.1011C>T 2 203748442 CM G C 5-UTRSNV . c.1-47C>G 2 203776246 CM G C Missense p.L290V c.868C>G 2 203749132 ESCA G C Missense p.S28C c.83C>G 2 203772641 HNSC GG TT Missense p.Q93K c.276_277delinsAA 2 203764315 CM GG TT Synonymous p.(=) c.978_979delinsAA 2 203748930 CM T A IntronicSNV . c.455-35A>T 2 203760977 NSCLC T A Missense p.R186S c.558A>T 2 203760839 HNSC T C Synonymous p.K408K c.1224A>G 2 203745631 HNSC T C Synonymous p.T397T c.1191A>G 2 203747437 HNSC