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 8 126114644 126114644 + Silent SNP C C G TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr8:126114644C>G c.72C>G c.(70-72)ctC>ctG p.L24L BLCA 8 126114679 126114679 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr8:126114679C>G c.107C>G c.(106-108)tCt>tGt p.S36C BLCA 8 126114697 126114697 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr8:126114697C>T c.125C>T c.(124-126)tCt>tTt p.S42F BLCA 8 126163434 126163434 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr8:126163434G>T c.179G>T c.(178-180)aGt>aTt p.S60I BLCA 8 126369470 126369470 + Missense_Mutation SNP A A C TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr8:126369470A>C c.428A>C c.(427-429)cAa>cCa p.Q143P BLCA 8 126369555 126369555 + Silent SNP T T A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr8:126369555T>A c.513T>A c.(511-513)atT>atA p.I171I BRCA 8 126194375 126194375 + Missense_Mutation SNP G G C TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 g.chr8:126194375G>C c.295G>C c.(295-297)Gat>Cat p.D99H BRCA 8 126194393 126194393 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr8:126194393G>C c.313G>C c.(313-315)Gag>Cag p.E105Q COAD 8 126163507 126163507 + Silent SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr8:126163507T>C c.252T>C c.(250-252)tcT>tcC p.S84S COAD 8 126379013 126379013 + Silent SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr8:126379013C>T c.630C>T c.(628-630)tgC>tgT p.C210C COADREAD 8 126163507 126163507 + Silent SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr8:126163507T>C c.252T>C c.(250-252)tcT>tcC p.S84S COADREAD 8 126379013 126379013 + Silent SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr8:126379013C>T c.630C>T c.(628-630)tgC>tgT p.C210C HNSC 8 126370029 126370029 + Missense_Mutation SNP G G C TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr8:126370029G>C c.595G>C c.(595-597)Gag>Cag p.E199Q LUAD 8 126194363 126194364 + Frame_Shift_Ins INS - - A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr8:126194363_126194364insA c.283_284insA c.(283-285)gaafs p.E95fs LUAD 8 126194398 126194398 + Silent SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 g.chr8:126194398G>A c.318G>A c.(316-318)aaG>aaA p.K106K LUAD 8 126379083 126379083 + Missense_Mutation SNP G G T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr8:126379083G>T c.700G>T c.(700-702)Gca>Tca p.A234S LUSC 8 126369499 126369499 + Missense_Mutation SNP G G A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 g.chr8:126369499G>A c.457G>A c.(457-459)Gga>Aga p.G153R OV 8 126369996 126369996 + Missense_Mutation SNP A A T TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 g.chr8:126369996A>T c.562A>T c.(562-564)Acc>Tcc p.T188S PRAD 8 126163439 126163439 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr8:126163439G>A c.184G>A c.(184-186)Gac>Aac p.D62N PRAD 8 126163474 126163474 + Silent SNP G G A TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 g.chr8:126163474G>A c.219G>A c.(217-219)cgG>cgA p.R73R SKCM 8 126114576 126114576 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr8:126114576C>T c.4C>T c.(4-6)Cca>Tca p.P2S SKCM 8 126379036 126379036 + Missense_Mutation SNP C C T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr8:126379036C>T c.653C>T c.(652-654)aCg>aTg p.T218M SKCM 8 126379116 126379116 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr8:126379116C>T c.733C>T c.(733-735)Cat>Tat p.H245Y

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 8 126114679 126114679 single base substitution C G exon_variant BLCA-US 8 126114679 126114679 single base substitution C G missense_variant S36C 107C>G BLCA-US 8 126114697 126114697 single base substitution C T exon_variant BLCA-US 8 126114697 126114697 single base substitution C T missense_variant S42F 125C>T BOCA-FR 8 126129750 126129750 single base substitution A T intron_variant BOCA-FR 8 126229019 126229019 single base substitution A T intron_variant BOCA-FR 8 126347320 126347320 single base substitution A G intron_variant BOCA-FR 8 126350220 126350220 single base substitution A T intron_variant BRCA-EU 8 126098944 126098944 single base substitution G T upstream_gene_variant BRCA-EU 8 126099760 126099760 single base substitution C G upstream_gene_variant BRCA-EU 8 126103077 126103077 single base substitution A T upstream_gene_variant BRCA-EU 8 126104357 126104357 single base substitution C G intron_variant BRCA-EU 8 126104744 126104744 single base substitution C A intron_variant BRCA-EU 8 126105634 126105634 single base substitution G C intron_variant BRCA-EU 8 126107337 126107337 single base substitution C T intron_variant BRCA-EU 8 126108489 126108489 single base substitution G A intron_variant BRCA-EU 8 126108490 126108490 single base substitution C T intron_variant BRCA-EU 8 126108640 126108640 single base substitution G C intron_variant BRCA-EU 8 126108998 126108998 single base substitution G A intron_variant BRCA-EU 8 126109923 126109923 single base substitution T G intron_variant BRCA-EU 8 126109923 126109923 single base substitution T G upstream_gene_variant BRCA-EU 8 126109926 126109926 single base substitution T A intron_variant BRCA-EU 8 126109926 126109926 single base substitution T A upstream_gene_variant BRCA-EU 8 126109996 126109996 single base substitution G T intron_variant BRCA-EU 8 126109996 126109996 single base substitution G T upstream_gene_variant BRCA-EU 8 126111568 126111568 single base substitution G A intron_variant BRCA-EU 8 126111568 126111568 single base substitution G A upstream_gene_variant BRCA-EU 8 126113858 126113858 single base substitution G C intron_variant BRCA-EU 8 126113858 126113858 single base substitution G C upstream_gene_variant BRCA-EU 8 126114600 126114600 single base substitution G A exon_variant BRCA-EU 8 126114600 126114600 single base substitution G A missense_variant G10S 28G>A BRCA-EU 8 126114834 126114834 single base substitution C A downstream_gene_variant BRCA-EU 8 126114834 126114834 single base substitution C A intron_variant BRCA-EU 8 126115897 126115897 single base substitution T C downstream_gene_variant BRCA-EU 8 126115897 126115897 single base substitution T C intron_variant BRCA-EU 8 126116474 126116474 single base substitution C T downstream_gene_variant BRCA-EU 8 126116474 126116474 single base substitution C T intron_variant BRCA-EU 8 126116800 126116800 single base substitution A G downstream_gene_variant BRCA-EU 8 126116800 126116800 single base substitution A G intron_variant BRCA-EU 8 126117135 126117135 single base substitution G A downstream_gene_variant BRCA-EU 8 126117135 126117135 single base substitution G A intron_variant BRCA-EU 8 126117997 126117997 single base substitution C T downstream_gene_variant BRCA-EU 8 126117997 126117997 single base substitution C T intron_variant BRCA-EU 8 126118938 126118938 single base substitution A C downstream_gene_variant BRCA-EU 8 126118938 126118938 single base substitution A C intron_variant BRCA-EU 8 126119029 126119029 single base substitution G A downstream_gene_variant BRCA-EU 8 126119029 126119029 single base substitution G A intron_variant BRCA-EU 8 126119602 126119609 deletion of <=200bp ATTTTTGT - downstream_gene_variant BRCA-EU 8 126119602 126119609 deletion of <=200bp ATTTTTGT - intron_variant BRCA-EU 8 126121119 126121119 single base substitution T A intron_variant BRCA-EU 8 126121204 126121204 single base substitution G T intron_variant BRCA-EU 8 126121864 126121864 single base substitution A T intron_variant BRCA-EU 8 126121865 126121865 single base substitution T G intron_variant BRCA-EU 8 126123636 126123636 insertion of <=200bp - T intron_variant BRCA-EU 8 126124539 126124539 single base substitution C T intron_variant BRCA-EU 8 126124617 126124617 single base substitution T G intron_variant BRCA-EU 8 126125311 126125311 deletion of <=200bp T - intron_variant BRCA-EU 8 126127521 126127521 deletion of <=200bp C - intron_variant BRCA-EU 8 126128284 126128284 single base substitution C T intron_variant BRCA-EU 8 126128770 126128770 single base substitution G T intron_variant BRCA-EU 8 126129111 126129111 single base substitution T G intron_variant BRCA-EU 8 126129485 126129485 single base substitution A T intron_variant BRCA-EU 8 126129839 126129839 single base substitution C G intron_variant BRCA-EU 8 126130606 126130606 single base substitution G A intron_variant BRCA-EU 8 126131534 126131534 single base substitution A G intron_variant BRCA-EU 8 126131534 126131534 single base substitution A G upstream_gene_variant BRCA-EU 8 126131691 126131691 single base substitution A G intron_variant BRCA-EU 8 126131691 126131691 single base substitution A G upstream_gene_variant BRCA-EU 8 126132245 126132248 deletion of <=200bp AAGA - intron_variant BRCA-EU 8 126132245 126132248 deletion of <=200bp AAGA - upstream_gene_variant BRCA-EU 8 126132307 126132307 single base substitution A C intron_variant BRCA-EU 8 126132307 126132307 single base substitution A C upstream_gene_variant BRCA-EU 8 126133176 126133176 single base substitution C T intron_variant BRCA-EU 8 126133176 126133176 single base substitution C T upstream_gene_variant BRCA-EU 8 126133803 126133819 deletion of <=200bp TGAGGAGACCATGAATC - intron_variant BRCA-EU 8 126133803 126133819 deletion of <=200bp TGAGGAGACCATGAATC - upstream_gene_variant BRCA-EU 8 126135136 126135136 single base substitution C G intron_variant BRCA-EU 8 126135136 126135136 single base substitution C G upstream_gene_variant BRCA-EU 8 126135927 126135927 single base substitution A G intron_variant BRCA-EU 8 126135927 126135927 single base substitution A G upstream_gene_variant BRCA-EU 8 126136522 126136522 single base substitution C G intron_variant BRCA-EU 8 126137177 126137177 single base substitution C G intron_variant BRCA-EU 8 126137867 126137867 single base substitution T C intron_variant BRCA-EU 8 126138340 126138340 single base substitution G A intron_variant BRCA-EU 8 126138626 126138626 single base substitution C A intron_variant BRCA-EU 8 126140071 126140071 single base substitution T C intron_variant BRCA-EU 8 126141328 126141328 single base substitution G C intron_variant BRCA-EU 8 126142448 126142448 single base substitution G T intron_variant BRCA-EU 8 126142448 126142448 single base substitution G T splice_region_variant BRCA-EU 8 126143044 126143044 single base substitution C G intron_variant BRCA-EU 8 126143425 126143425 single base substitution T C intron_variant BRCA-EU 8 126146592 126146592 single base substitution G T intron_variant BRCA-EU 8 126146703 126146703 single base substitution C G intron_variant BRCA-EU 8 126146853 126146853 single base substitution T A intron_variant BRCA-EU 8 126149214 126149214 single base substitution G T intron_variant BRCA-EU 8 126150494 126150494 single base substitution C G intron_variant BRCA-EU 8 126150503 126150503 single base substitution T A intron_variant BRCA-EU 8 126150601 126150601 single base substitution G C intron_variant BRCA-EU 8 126151555 126151555 single base substitution T C intron_variant BRCA-EU 8 126155315 126155315 single base substitution C T intron_variant BRCA-EU 8 126155605 126155605 single base substitution A G intron_variant BRCA-EU 8 126157453 126157453 single base substitution A G intron_variant BRCA-EU 8 126157635 126157635 deletion of <=200bp G - intron_variant BRCA-EU 8 126157801 126157801 single base substitution C T intron_variant BRCA-EU 8 126158392 126158392 single base substitution G T intron_variant BRCA-EU 8 126158728 126158728 single base substitution G T intron_variant BRCA-EU 8 126158729 126158729 single base substitution G A intron_variant BRCA-EU 8 126158803 126158803 single base substitution C T intron_variant BRCA-EU 8 126159042 126159042 single base substitution G C intron_variant BRCA-EU 8 126159896 126159896 single base substitution G A intron_variant BRCA-EU 8 126160328 126160328 single base substitution G T intron_variant BRCA-EU 8 126160406 126160406 single base substitution C T intron_variant BRCA-EU 8 126162606 126162606 deletion of <=200bp T - intron_variant BRCA-EU 8 126163912 126163912 single base substitution G A downstream_gene_variant BRCA-EU 8 126163912 126163912 single base substitution G A intron_variant BRCA-EU 8 126163935 126163935 single base substitution T C downstream_gene_variant BRCA-EU 8 126163935 126163935 single base substitution T C intron_variant BRCA-EU 8 126163972 126163972 single base substitution A T downstream_gene_variant BRCA-EU 8 126163972 126163972 single base substitution A T intron_variant BRCA-EU 8 126164267 126164267 single base substitution C G downstream_gene_variant BRCA-EU 8 126164267 126164267 single base substitution C G intron_variant BRCA-EU 8 126164498 126164498 single base substitution C T downstream_gene_variant BRCA-EU 8 126164498 126164498 single base substitution C T intron_variant BRCA-EU 8 126164948 126164948 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 126164948 126164948 deletion of <=200bp T - intron_variant BRCA-EU 8 126164957 126164957 single base substitution C T downstream_gene_variant BRCA-EU 8 126164957 126164957 single base substitution C T intron_variant BRCA-EU 8 126165010 126165010 single base substitution G T downstream_gene_variant BRCA-EU 8 126165010 126165010 single base substitution G T intron_variant BRCA-EU 8 126165153 126165153 single base substitution G C downstream_gene_variant BRCA-EU 8 126165153 126165153 single base substitution G C intron_variant BRCA-EU 8 126166128 126166128 single base substitution T C downstream_gene_variant BRCA-EU 8 126166128 126166128 single base substitution T C intron_variant BRCA-EU 8 126167478 126167478 single base substitution G A downstream_gene_variant BRCA-EU 8 126167478 126167478 single base substitution G A intron_variant BRCA-EU 8 126167575 126167575 single base substitution G A downstream_gene_variant BRCA-EU 8 126167575 126167575 single base substitution G A intron_variant BRCA-EU 8 126168772 126168772 single base substitution C T downstream_gene_variant BRCA-EU 8 126168772 126168772 single base substitution C T intron_variant BRCA-EU 8 126169560 126169560 single base substitution G A downstream_gene_variant BRCA-EU 8 126169560 126169560 single base substitution G A intron_variant BRCA-EU 8 126170287 126170287 single base substitution G C downstream_gene_variant BRCA-EU 8 126170287 126170287 single base substitution G C intron_variant BRCA-EU 8 126171445 126171445 single base substitution C T downstream_gene_variant BRCA-EU 8 126171445 126171445 single base substitution C T intron_variant BRCA-EU 8 126171607 126171607 single base substitution C T downstream_gene_variant BRCA-EU 8 126171607 126171607 single base substitution C T intron_variant BRCA-EU 8 126171695 126171695 single base substitution G A downstream_gene_variant BRCA-EU 8 126171695 126171695 single base substitution G A intron_variant BRCA-EU 8 126172860 126172865 multiple base substitution (>=2bp and <=200bp) TCTATA TC downstream_gene_variant BRCA-EU 8 126172860 126172865 multiple base substitution (>=2bp and <=200bp) TCTATA TC intron_variant BRCA-EU 8 126172866 126172866 single base substitution A C downstream_gene_variant BRCA-EU 8 126172866 126172866 single base substitution A C intron_variant BRCA-EU 8 126173138 126173138 single base substitution C G downstream_gene_variant BRCA-EU 8 126173138 126173138 single base substitution C G intron_variant BRCA-EU 8 126173649 126173649 single base substitution A T intron_variant BRCA-EU 8 126173934 126173934 single base substitution G T intron_variant BRCA-EU 8 126175113 126175113 single base substitution C T intron_variant BRCA-EU 8 126176264 126176264 single base substitution T C intron_variant BRCA-EU 8 126178324 126178324 single base substitution C G intron_variant BRCA-EU 8 126179277 126179277 single base substitution C T intron_variant BRCA-EU 8 126180364 126180364 deletion of <=200bp T - intron_variant BRCA-EU 8 126180364 126180364 insertion of <=200bp - T intron_variant BRCA-EU 8 126180512 126180512 single base substitution C G intron_variant BRCA-EU 8 126180582 126180582 single base substitution A G intron_variant BRCA-EU 8 126180634 126180634 single base substitution C T intron_variant BRCA-EU 8 126181770 126181770 single base substitution T C intron_variant BRCA-EU 8 126182836 126182836 single base substitution G T intron_variant BRCA-EU 8 126182902 126182902 single base substitution G C intron_variant BRCA-EU 8 126183693 126183693 single base substitution G C intron_variant BRCA-EU 8 126184717 126184717 single base substitution C T intron_variant BRCA-EU 8 126184829 126184829 single base substitution C T intron_variant BRCA-EU 8 126185218 126185218 single base substitution G C intron_variant BRCA-EU 8 126185908 126185908 single base substitution G T intron_variant BRCA-EU 8 126185994 126185994 single base substitution A T intron_variant BRCA-EU 8 126186450 126186450 single base substitution A G intron_variant BRCA-EU 8 126188009 126188009 single base substitution G C intron_variant BRCA-EU 8 126188702 126188702 deletion of <=200bp T - intron_variant BRCA-EU 8 126189231 126189231 single base substitution C T intron_variant BRCA-EU 8 126190498 126190498 single base substitution G A intron_variant BRCA-EU 8 126190651 126190651 single base substitution A G intron_variant BRCA-EU 8 126190673 126190673 single base substitution T C intron_variant BRCA-EU 8 126190915 126190915 single base substitution A G intron_variant BRCA-EU 8 126190944 126190944 single base substitution C G intron_variant BRCA-EU 8 126192123 126192123 single base substitution A G intron_variant BRCA-EU 8 126192912 126192912 single base substitution G C intron_variant BRCA-EU 8 126193060 126193060 single base substitution T G intron_variant BRCA-EU 8 126193526 126193526 single base substitution T A intron_variant BRCA-EU 8 126194107 126194107 single base substitution G A intron_variant BRCA-EU 8 126194541 126194541 single base substitution G C 3_prime_UTR_variant BRCA-EU 8 126194541 126194541 single base substitution G C downstream_gene_variant BRCA-EU 8 126194541 126194541 single base substitution G C exon_variant BRCA-EU 8 126194541 126194541 single base substitution G C intron_variant BRCA-EU 8 126194897 126194897 single base substitution A G downstream_gene_variant BRCA-EU 8 126194897 126194897 single base substitution A G intron_variant BRCA-EU 8 126196818 126196818 single base substitution T C downstream_gene_variant BRCA-EU 8 126196818 126196818 single base substitution T C intron_variant BRCA-EU 8 126197077 126197077 single base substitution T A downstream_gene_variant BRCA-EU 8 126197077 126197077 single base substitution T A intron_variant BRCA-EU 8 126197141 126197141 insertion of <=200bp - T downstream_gene_variant BRCA-EU 8 126197141 126197141 insertion of <=200bp - T intron_variant BRCA-EU 8 126197317 126197317 single base substitution A G downstream_gene_variant BRCA-EU 8 126197317 126197317 single base substitution A G intron_variant BRCA-EU 8 126197618 126197618 deletion of <=200bp G - downstream_gene_variant BRCA-EU 8 126197618 126197618 deletion of <=200bp G - intron_variant BRCA-EU 8 126198015 126198015 single base substitution T A downstream_gene_variant BRCA-EU 8 126198015 126198015 single base substitution T A intron_variant BRCA-EU 8 126198071 126198071 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 126198071 126198071 deletion of <=200bp T - intron_variant BRCA-EU 8 126198552 126198552 single base substitution T G downstream_gene_variant BRCA-EU 8 126198552 126198552 single base substitution T G intron_variant BRCA-EU 8 126198973 126198973 single base substitution C A downstream_gene_variant BRCA-EU 8 126198973 126198973 single base substitution C A intron_variant BRCA-EU 8 126201790 126201790 single base substitution T G intron_variant BRCA-EU 8 126201926 126201926 insertion of <=200bp - T intron_variant BRCA-EU 8 126202299 126202299 single base substitution C G intron_variant BRCA-EU 8 126203526 126203526 single base substitution G T intron_variant BRCA-EU 8 126203893 126203893 single base substitution G A intron_variant BRCA-EU 8 126204704 126204704 single base substitution C G intron_variant BRCA-EU 8 126204985 126204985 single base substitution A G intron_variant BRCA-EU 8 126205487 126205487 single base substitution C A intron_variant BRCA-EU 8 126206311 126206311 single base substitution A C intron_variant BRCA-EU 8 126206960 126206960 insertion of <=200bp - A intron_variant BRCA-EU 8 126207530 126207530 insertion of <=200bp - T intron_variant BRCA-EU 8 126207809 126207809 single base substitution C T intron_variant BRCA-EU 8 126208731 126208731 single base substitution G A intron_variant BRCA-EU 8 126210051 126210051 single base substitution C T intron_variant BRCA-EU 8 126210069 126210069 single base substitution G T intron_variant BRCA-EU 8 126210892 126210892 deletion of <=200bp T - intron_variant BRCA-EU 8 126210984 126210984 single base substitution G C intron_variant BRCA-EU 8 126211193 126211193 single base substitution C G intron_variant BRCA-EU 8 126212534 126212534 single base substitution G C intron_variant BRCA-EU 8 126212733 126212733 single base substitution G C intron_variant BRCA-EU 8 126212784 126212784 single base substitution C T intron_variant BRCA-EU 8 126213119 126213119 single base substitution C G intron_variant BRCA-EU 8 126213152 126213152 single base substitution C T intron_variant BRCA-EU 8 126213674 126213674 single base substitution C T intron_variant BRCA-EU 8 126213912 126213912 single base substitution G A intron_variant BRCA-EU 8 126213945 126213945 single base substitution G A intron_variant BRCA-EU 8 126214117 126214117 single base substitution T C intron_variant BRCA-EU 8 126214336 126214336 single base substitution G A intron_variant BRCA-EU 8 126214883 126214883 single base substitution G A intron_variant BRCA-EU 8 126215434 126215434 single base substitution T A intron_variant BRCA-EU 8 126215828 126215828 single base substitution G C intron_variant BRCA-EU 8 126215957 126215957 single base substitution G C intron_variant BRCA-EU 8 126216134 126216134 single base substitution G C intron_variant BRCA-EU 8 126216633 126216633 single base substitution C T intron_variant BRCA-EU 8 126218313 126218313 single base substitution T G intron_variant BRCA-EU 8 126222368 126222368 single base substitution C T intron_variant BRCA-EU 8 126224717 126224717 single base substitution G A intron_variant BRCA-EU 8 126227696 126227696 single base substitution G A intron_variant BRCA-EU 8 126228206 126228206 single base substitution A G intron_variant BRCA-EU 8 126228463 126228463 single base substitution A G intron_variant BRCA-EU 8 126229121 126229121 single base substitution C G intron_variant BRCA-EU 8 126230660 126230660 single base substitution T G intron_variant BRCA-EU 8 126231271 126231271 single base substitution C G intron_variant BRCA-EU 8 126231787 126231787 single base substitution C T intron_variant BRCA-EU 8 126232132 126232132 single base substitution G A intron_variant BRCA-EU 8 126232884 126232884 single base substitution T A intron_variant BRCA-EU 8 126233787 126233787 single base substitution G T intron_variant BRCA-EU 8 126234534 126234534 single base substitution G C intron_variant BRCA-EU 8 126235305 126235309 deletion of <=200bp AAAAT - intron_variant BRCA-EU 8 126235888 126235930 deletion of <=200bp TCTTTTTGCTAATAGCCATTCTAACAGATGTGAAGTGATTATC - intron_variant BRCA-EU 8 126235912 126235912 single base substitution C T intron_variant BRCA-EU 8 126239101 126239101 single base substitution C T intron_variant BRCA-EU 8 126239244 126239244 single base substitution C T intron_variant BRCA-EU 8 126240114 126240114 deletion of <=200bp T - intron_variant BRCA-EU 8 126240782 126240782 single base substitution G C intron_variant BRCA-EU 8 126241987 126241987 deletion of <=200bp T - intron_variant BRCA-EU 8 126242490 126242490 single base substitution C A intron_variant BRCA-EU 8 126243281 126243281 single base substitution G A intron_variant BRCA-EU 8 126243297 126243297 single base substitution T C intron_variant BRCA-EU 8 126244085 126244085 single base substitution G C intron_variant BRCA-EU 8 126244731 126244731 single base substitution A G intron_variant BRCA-EU 8 126245260 126245260 single base substitution C A intron_variant BRCA-EU 8 126245576 126245576 single base substitution G A intron_variant BRCA-EU 8 126245955 126245955 single base substitution G C intron_variant BRCA-EU 8 126247166 126247166 single base substitution C G intron_variant BRCA-EU 8 126248395 126248395 single base substitution C G intron_variant BRCA-EU 8 126250826 126250826 single base substitution C G intron_variant BRCA-EU 8 126251034 126251034 single base substitution T A intron_variant BRCA-EU 8 126251904 126251904 single base substitution G C intron_variant BRCA-EU 8 126252128 126252128 single base substitution G C intron_variant BRCA-EU 8 126253208 126253208 single base substitution C T intron_variant BRCA-EU 8 126253211 126253211 deletion of <=200bp G - intron_variant BRCA-EU 8 126254320 126254320 single base substitution A T intron_variant BRCA-EU 8 126254373 126254373 insertion of <=200bp - A intron_variant BRCA-EU 8 126255286 126255286 single base substitution A G intron_variant BRCA-EU 8 126255449 126255449 single base substitution G C intron_variant BRCA-EU 8 126255468 126255468 single base substitution G C intron_variant BRCA-EU 8 126255478 126255478 single base substitution G C intron_variant BRCA-EU 8 126255631 126255631 single base substitution G C intron_variant BRCA-EU 8 126255743 126255743 single base substitution T A intron_variant BRCA-EU 8 126255944 126255944 single base substitution G C intron_variant BRCA-EU 8 126256283 126256283 single base substitution T A intron_variant BRCA-EU 8 126256285 126256285 single base substitution A C intron_variant BRCA-EU 8 126256568 126256576 deletion of <=200bp TCATTCTGT - intron_variant BRCA-EU 8 126257107 126257107 single base substitution A T intron_variant BRCA-EU 8 126257111 126257111 single base substitution C T intron_variant BRCA-EU 8 126257532 126257532 single base substitution A G intron_variant BRCA-EU 8 126257586 126257586 single base substitution G A intron_variant BRCA-EU 8 126258726 126258726 insertion of <=200bp - A intron_variant BRCA-EU 8 126259795 126259795 single base substitution C T intron_variant BRCA-EU 8 126260660 126260660 single base substitution C T intron_variant BRCA-EU 8 126260989 126260989 single base substitution A G intron_variant BRCA-EU 8 126261227 126261227 single base substitution C T intron_variant BRCA-EU 8 126262057 126262057 single base substitution A G intron_variant BRCA-EU 8 126262538 126262538 single base substitution T G intron_variant BRCA-EU 8 126266583 126266583 single base substitution C T intron_variant BRCA-EU 8 126267532 126267532 single base substitution G A intron_variant BRCA-EU 8 126267761 126267761 single base substitution C T intron_variant BRCA-EU 8 126268206 126268206 single base substitution T A intron_variant BRCA-EU 8 126268316 126268316 single base substitution G C intron_variant BRCA-EU 8 126268637 126268637 insertion of <=200bp - G intron_variant BRCA-EU 8 126268802 126268802 single base substitution G A intron_variant BRCA-EU 8 126268987 126268987 single base substitution G A intron_variant BRCA-EU 8 126270760 126270760 single base substitution G T intron_variant BRCA-EU 8 126270791 126270791 single base substitution G C intron_variant BRCA-EU 8 126270871 126270871 single base substitution T C intron_variant BRCA-EU 8 126274044 126274044 single base substitution A G intron_variant BRCA-EU 8 126274102 126274102 single base substitution G C intron_variant BRCA-EU 8 126275430 126275430 single base substitution A G intron_variant BRCA-EU 8 126276086 126276086 single base substitution A G intron_variant BRCA-EU 8 126276730 126276730 single base substitution T A intron_variant BRCA-EU 8 126276866 126276866 single base substitution G C intron_variant BRCA-EU 8 126277115 126277115 single base substitution T C intron_variant BRCA-EU 8 126277481 126277481 single base substitution G C intron_variant BRCA-EU 8 126278713 126278713 single base substitution A C intron_variant BRCA-EU 8 126279781 126279781 single base substitution A G intron_variant BRCA-EU 8 126280183 126280183 deletion of <=200bp T - intron_variant BRCA-EU 8 126280547 126280547 single base substitution G A intron_variant BRCA-EU 8 126280622 126280622 deletion of <=200bp A - intron_variant BRCA-EU 8 126281425 126281425 single base substitution G T intron_variant BRCA-EU 8 126281807 126281807 insertion of <=200bp - T intron_variant BRCA-EU 8 126282553 126282553 single base substitution A G intron_variant BRCA-EU 8 126283065 126283065 single base substitution C T intron_variant BRCA-EU 8 126283136 126283136 single base substitution A G intron_variant BRCA-EU 8 126283253 126283253 single base substitution C T intron_variant BRCA-EU 8 126283311 126283311 single base substitution G T intron_variant BRCA-EU 8 126284875 126284875 single base substitution A G intron_variant BRCA-EU 8 126284917 126284918 deletion of <=200bp TA - intron_variant BRCA-EU 8 126285631 126285631 single base substitution T C intron_variant BRCA-EU 8 126285642 126285642 single base substitution G T intron_variant BRCA-EU 8 126285733 126285733 single base substitution G C intron_variant BRCA-EU 8 126285844 126285844 deletion of <=200bp C - intron_variant BRCA-EU 8 126286186 126286186 single base substitution C T intron_variant BRCA-EU 8 126286495 126286495 deletion of <=200bp A - intron_variant BRCA-EU 8 126286683 126286683 single base substitution T C intron_variant BRCA-EU 8 126287023 126287023 single base substitution T A intron_variant BRCA-EU 8 126287025 126287025 single base substitution A T intron_variant BRCA-EU 8 126287482 126287482 single base substitution A T intron_variant BRCA-EU 8 126287869 126287869 single base substitution C G intron_variant BRCA-EU 8 126288603 126288603 single base substitution C A intron_variant BRCA-EU 8 126289765 126289765 single base substitution T C intron_variant BRCA-EU 8 126290560 126290560 single base substitution C A intron_variant BRCA-EU 8 126290722 126290722 single base substitution G C intron_variant BRCA-EU 8 126291548 126291548 single base substitution G C intron_variant BRCA-EU 8 126292095 126292095 single base substitution G C intron_variant BRCA-EU 8 126292136 126292136 single base substitution A G intron_variant BRCA-EU 8 126292160 126292160 single base substitution C G intron_variant BRCA-EU 8 126292691 126292691 single base substitution C G intron_variant BRCA-EU 8 126292733 126292733 single base substitution A G intron_variant BRCA-EU 8 126292984 126292984 single base substitution G A intron_variant BRCA-EU 8 126293104 126293104 single base substitution A G intron_variant BRCA-EU 8 126293672 126293672 single base substitution G C intron_variant BRCA-EU 8 126295534 126295534 single base substitution T C intron_variant BRCA-EU 8 126296023 126296023 single base substitution A G intron_variant BRCA-EU 8 126296257 126296257 single base substitution G A intron_variant BRCA-EU 8 126296364 126296364 single base substitution C G intron_variant BRCA-EU 8 126296452 126296452 deletion of <=200bp G - intron_variant BRCA-EU 8 126297840 126297840 single base substitution C T intron_variant BRCA-EU 8 126298264 126298264 single base substitution G A intron_variant BRCA-EU 8 126298336 126298336 single base substitution C T intron_variant BRCA-EU 8 126299455 126299455 single base substitution T G intron_variant BRCA-EU 8 126299509 126299509 single base substitution G T intron_variant BRCA-EU 8 126301750 126301750 single base substitution G C intron_variant BRCA-EU 8 126302430 126302430 single base substitution A T intron_variant BRCA-EU 8 126302550 126302550 deletion of <=200bp A - intron_variant BRCA-EU 8 126303274 126303274 single base substitution G A intron_variant BRCA-EU 8 126305300 126305300 single base substitution G A intron_variant BRCA-EU 8 126305378 126305378 single base substitution G C intron_variant BRCA-EU 8 126306729 126306729 single base substitution G A intron_variant BRCA-EU 8 126306798 126306798 single base substitution A G intron_variant BRCA-EU 8 126307612 126307612 single base substitution C A intron_variant BRCA-EU 8 126308121 126308121 single base substitution A G intron_variant BRCA-EU 8 126308439 126308439 single base substitution G C intron_variant BRCA-EU 8 126309061 126309061 single base substitution A G intron_variant BRCA-EU 8 126309282 126309282 single base substitution T C intron_variant BRCA-EU 8 126310215 126310215 single base substitution G T intron_variant BRCA-EU 8 126310583 126310583 single base substitution C A intron_variant BRCA-EU 8 126311673 126311673 single base substitution C A intron_variant BRCA-EU 8 126313227 126313227 single base substitution G A intron_variant BRCA-EU 8 126314490 126314490 single base substitution C T intron_variant BRCA-EU 8 126316262 126316262 single base substitution T G intron_variant BRCA-EU 8 126316369 126316369 single base substitution G C intron_variant BRCA-EU 8 126316577 126316577 single base substitution T G intron_variant BRCA-EU 8 126317137 126317137 insertion of <=200bp - G intron_variant BRCA-EU 8 126318602 126318602 single base substitution A T intron_variant BRCA-EU 8 126318722 126318723 deletion of <=200bp CA - intron_variant BRCA-EU 8 126318733 126318733 single base substitution G C intron_variant BRCA-EU 8 126320565 126320565 insertion of <=200bp - A intron_variant BRCA-EU 8 126320811 126320811 single base substitution C T intron_variant BRCA-EU 8 126321192 126321192 single base substitution A T intron_variant BRCA-EU 8 126321860 126321860 single base substitution A G intron_variant BRCA-EU 8 126321943 126321943 single base substitution G A intron_variant BRCA-EU 8 126322541 126322541 single base substitution A G intron_variant BRCA-EU 8 126322838 126322838 deletion of <=200bp T - intron_variant BRCA-EU 8 126323503 126323503 single base substitution G C intron_variant BRCA-EU 8 126323583 126323583 deletion of <=200bp A - intron_variant BRCA-EU 8 126323583 126323583 insertion of <=200bp - A intron_variant BRCA-EU 8 126324854 126324854 single base substitution G A intron_variant BRCA-EU 8 126325166 126325166 single base substitution C G intron_variant BRCA-EU 8 126325394 126325394 deletion of <=200bp A - intron_variant BRCA-EU 8 126325431 126325431 insertion of <=200bp - AGAAAGAAGGAAGGAAGGAAAAAAAGGAAGGAAAGAAGGAAGG intron_variant BRCA-EU 8 126325611 126325611 single base substitution G A intron_variant BRCA-EU 8 126325796 126325796 single base substitution A T intron_variant BRCA-EU 8 126325968 126325968 single base substitution G A intron_variant BRCA-EU 8 126326072 126326072 single base substitution A G intron_variant BRCA-EU 8 126329396 126329396 deletion of <=200bp A - intron_variant BRCA-EU 8 126329664 126329664 single base substitution C G intron_variant BRCA-EU 8 126330389 126330389 single base substitution G A intron_variant BRCA-EU 8 126330914 126330914 deletion of <=200bp A - intron_variant BRCA-EU 8 126330990 126330990 single base substitution C G intron_variant BRCA-EU 8 126331228 126331228 single base substitution C T intron_variant BRCA-EU 8 126331871 126331871 single base substitution G A intron_variant BRCA-EU 8 126331927 126331927 single base substitution A G intron_variant BRCA-EU 8 126331958 126331958 deletion of <=200bp A - intron_variant BRCA-EU 8 126332843 126332843 single base substitution G A intron_variant BRCA-EU 8 126333861 126333861 single base substitution A C intron_variant BRCA-EU 8 126333916 126333916 insertion of <=200bp - A intron_variant BRCA-EU 8 126333941 126333941 single base substitution C T intron_variant BRCA-EU 8 126334018 126334018 deletion of <=200bp A - intron_variant BRCA-EU 8 126334301 126334301 deletion of <=200bp T - intron_variant BRCA-EU 8 126335290 126335290 single base substitution G C intron_variant BRCA-EU 8 126336114 126336114 single base substitution A G intron_variant BRCA-EU 8 126336221 126336221 insertion of <=200bp - A intron_variant BRCA-EU 8 126336244 126336244 single base substitution G A intron_variant BRCA-EU 8 126337316 126337316 single base substitution T C intron_variant BRCA-EU 8 126339208 126339208 single base substitution A G intron_variant BRCA-EU 8 126339772 126339772 deletion of <=200bp T - intron_variant BRCA-EU 8 126340448 126340448 single base substitution G C intron_variant BRCA-EU 8 126341016 126341016 insertion of <=200bp - T intron_variant BRCA-EU 8 126341108 126341108 single base substitution T A intron_variant BRCA-EU 8 126341296 126341296 single base substitution G T intron_variant BRCA-EU 8 126342688 126342688 single base substitution G T intron_variant BRCA-EU 8 126342916 126342916 single base substitution G A intron_variant BRCA-EU 8 126343310 126343310 single base substitution G A intron_variant BRCA-EU 8 126343984 126343984 single base substitution G A intron_variant BRCA-EU 8 126344529 126344529 single base substitution G T intron_variant BRCA-EU 8 126346046 126346046 single base substitution C T intron_variant BRCA-EU 8 126346401 126346401 single base substitution C G intron_variant BRCA-EU 8 126347280 126347280 single base substitution G C intron_variant BRCA-EU 8 126347641 126347641 single base substitution C T intron_variant BRCA-EU 8 126347857 126347857 single base substitution G C intron_variant BRCA-EU 8 126348211 126348211 single base substitution T A intron_variant BRCA-EU 8 126348303 126348303 single base substitution G C intron_variant BRCA-EU 8 126348469 126348469 single base substitution G A intron_variant BRCA-EU 8 126348910 126348910 single base substitution G T intron_variant BRCA-EU 8 126349887 126349887 single base substitution A G intron_variant BRCA-EU 8 126349888 126349888 single base substitution G C intron_variant BRCA-EU 8 126350254 126350254 single base substitution G A intron_variant BRCA-EU 8 126350527 126350527 single base substitution A G intron_variant BRCA-EU 8 126352348 126352348 single base substitution C A intron_variant BRCA-EU 8 126352379 126352379 single base substitution C T intron_variant BRCA-EU 8 126352592 126352592 single base substitution C A intron_variant BRCA-EU 8 126352781 126352781 single base substitution T C intron_variant BRCA-EU 8 126353430 126353430 single base substitution G A intron_variant BRCA-EU 8 126355298 126355298 single base substitution C G intron_variant BRCA-EU 8 126356098 126356098 single base substitution A T intron_variant BRCA-EU 8 126356443 126356443 single base substitution G C intron_variant BRCA-EU 8 126356806 126356806 single base substitution G A intron_variant BRCA-EU 8 126357817 126357817 single base substitution G A intron_variant BRCA-EU 8 126357872 126357872 single base substitution A G intron_variant BRCA-EU 8 126358227 126358227 single base substitution G C intron_variant BRCA-EU 8 126358807 126358807 single base substitution G A intron_variant BRCA-EU 8 126360180 126360180 single base substitution T G intron_variant BRCA-EU 8 126360276 126360276 single base substitution T G intron_variant BRCA-EU 8 126360344 126360344 single base substitution G C intron_variant BRCA-EU 8 126360558 126360558 single base substitution G C intron_variant BRCA-EU 8 126362131 126362131 single base substitution C T intron_variant BRCA-EU 8 126362339 126362339 single base substitution G C intron_variant BRCA-EU 8 126362877 126362877 single base substitution G A intron_variant BRCA-EU 8 126362982 126362982 single base substitution G T intron_variant BRCA-EU 8 126364083 126364083 single base substitution A G intron_variant BRCA-EU 8 126365660 126365660 single base substitution G A intron_variant BRCA-EU 8 126365882 126365882 single base substitution T G intron_variant BRCA-EU 8 126365916 126365916 single base substitution G A intron_variant BRCA-EU 8 126366183 126366183 insertion of <=200bp - T intron_variant BRCA-EU 8 126366220 126366220 single base substitution C T intron_variant BRCA-EU 8 126367055 126367055 single base substitution C A intron_variant BRCA-EU 8 126367411 126367411 single base substitution A G intron_variant BRCA-EU 8 126368404 126368404 single base substitution G A intron_variant BRCA-EU 8 126369240 126369240 deletion of <=200bp C - intron_variant BRCA-EU 8 126369445 126369445 single base substitution C G intron_variant BRCA-EU 8 126370744 126370745 deletion of <=200bp AC - downstream_gene_variant BRCA-EU 8 126370744 126370745 deletion of <=200bp AC - intron_variant BRCA-EU 8 126370744 126370745 deletion of <=200bp AC - upstream_gene_variant BRCA-EU 8 126370946 126370946 single base substitution G A downstream_gene_variant BRCA-EU 8 126370946 126370946 single base substitution G A intron_variant BRCA-EU 8 126370946 126370946 single base substitution G A upstream_gene_variant BRCA-EU 8 126371192 126371192 single base substitution G C downstream_gene_variant BRCA-EU 8 126371192 126371192 single base substitution G C intron_variant BRCA-EU 8 126371192 126371192 single base substitution G C upstream_gene_variant BRCA-EU 8 126371200 126371200 single base substitution G T downstream_gene_variant BRCA-EU 8 126371200 126371200 single base substitution G T intron_variant BRCA-EU 8 126371200 126371200 single base substitution G T upstream_gene_variant BRCA-EU 8 126371814 126371814 single base substitution A C downstream_gene_variant BRCA-EU 8 126371814 126371814 single base substitution A C intron_variant BRCA-EU 8 126371814 126371814 single base substitution A C upstream_gene_variant BRCA-EU 8 126372547 126372547 single base substitution G C downstream_gene_variant BRCA-EU 8 126372547 126372547 single base substitution G C intron_variant BRCA-EU 8 126372547 126372547 single base substitution G C upstream_gene_variant BRCA-EU 8 126372775 126372775 single base substitution G C downstream_gene_variant BRCA-EU 8 126372775 126372775 single base substitution G C intron_variant BRCA-EU 8 126372775 126372775 single base substitution G C upstream_gene_variant BRCA-EU 8 126372789 126372789 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 126372789 126372789 deletion of <=200bp A - intron_variant BRCA-EU 8 126372789 126372789 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 126373455 126373455 single base substitution A G downstream_gene_variant BRCA-EU 8 126373455 126373455 single base substitution A G intron_variant BRCA-EU 8 126373455 126373455 single base substitution A G upstream_gene_variant BRCA-EU 8 126373485 126373485 single base substitution T A downstream_gene_variant BRCA-EU 8 126373485 126373485 single base substitution T A intron_variant BRCA-EU 8 126373485 126373485 single base substitution T A upstream_gene_variant BRCA-EU 8 126373915 126373915 single base substitution G C downstream_gene_variant BRCA-EU 8 126373915 126373915 single base substitution G C intron_variant BRCA-EU 8 126373915 126373915 single base substitution G C upstream_gene_variant BRCA-EU 8 126374228 126374228 single base substitution C T downstream_gene_variant BRCA-EU 8 126374228 126374228 single base substitution C T intron_variant BRCA-EU 8 126374228 126374228 single base substitution C T upstream_gene_variant BRCA-EU 8 126374691 126374691 single base substitution G C downstream_gene_variant BRCA-EU 8 126374691 126374691 single base substitution G C intron_variant BRCA-EU 8 126374691 126374691 single base substitution G C upstream_gene_variant BRCA-EU 8 126375325 126375325 single base substitution T A exon_variant BRCA-EU 8 126375325 126375325 single base substitution T A intron_variant BRCA-EU 8 126375468 126375468 single base substitution G C exon_variant BRCA-EU 8 126375468 126375468 single base substitution G C intron_variant BRCA-EU 8 126375649 126375649 single base substitution G A intron_variant BRCA-EU 8 126376176 126376176 deletion of <=200bp T - intron_variant BRCA-EU 8 126376832 126376832 single base substitution G C intron_variant BRCA-EU 8 126377819 126377819 single base substitution C G intron_variant BRCA-EU 8 126378195 126378195 single base substitution G A intron_variant BRCA-EU 8 126378247 126378247 single base substitution A G intron_variant BRCA-EU 8 126379186 126379186 single base substitution G C 3_prime_UTR_variant BRCA-EU 8 126379186 126379186 single base substitution G C exon_variant BRCA-EU 8 126381723 126381723 single base substitution G C downstream_gene_variant BRCA-EU 8 126382338 126382338 single base substitution G A downstream_gene_variant BRCA-EU 8 126382391 126382391 single base substitution A G downstream_gene_variant BRCA-EU 8 126383096 126383096 single base substitution G C downstream_gene_variant BRCA-EU 8 126383308 126383308 single base substitution G A downstream_gene_variant BRCA-EU 8 126383389 126383389 single base substitution G T downstream_gene_variant BRCA-FR 8 126099760 126099760 single base substitution C G upstream_gene_variant BRCA-FR 8 126102401 126102401 single base substitution G A upstream_gene_variant BRCA-FR 8 126103077 126103077 single base substitution A T upstream_gene_variant BRCA-FR 8 126105278 126105278 single base substitution G A intron_variant BRCA-FR 8 126124539 126124539 single base substitution C T intron_variant BRCA-FR 8 126125310 126125310 single base substitution G A intron_variant BRCA-FR 8 126137435 126137435 single base substitution G A intron_variant BRCA-FR 8 126149882 126149882 single base substitution C T intron_variant BRCA-FR 8 126167478 126167478 single base substitution G A downstream_gene_variant BRCA-FR 8 126167478 126167478 single base substitution G A intron_variant BRCA-FR 8 126169236 126169236 single base substitution G T downstream_gene_variant BRCA-FR 8 126169236 126169236 single base substitution G T intron_variant BRCA-FR 8 126169791 126169791 single base substitution C G downstream_gene_variant BRCA-FR 8 126169791 126169791 single base substitution C G intron_variant BRCA-FR 8 126173649 126173649 single base substitution A T intron_variant BRCA-FR 8 126180512 126180512 single base substitution C G intron_variant BRCA-FR 8 126180634 126180634 single base substitution C T intron_variant BRCA-FR 8 126184829 126184829 single base substitution C T intron_variant BRCA-FR 8 126185218 126185218 single base substitution G C intron_variant BRCA-FR 8 126189231 126189231 single base substitution C T intron_variant BRCA-FR 8 126207809 126207809 single base substitution C T intron_variant BRCA-FR 8 126213945 126213945 single base substitution G A intron_variant BRCA-FR 8 126216633 126216633 single base substitution C T intron_variant BRCA-FR 8 126224136 126224136 single base substitution C T intron_variant BRCA-FR 8 126234302 126234302 single base substitution A G intron_variant BRCA-FR 8 126240408 126240408 single base substitution G A intron_variant BRCA-FR 8 126240782 126240782 single base substitution G C intron_variant BRCA-FR 8 126242490 126242490 single base substitution C A intron_variant BRCA-FR 8 126245957 126245957 single base substitution G A intron_variant BRCA-FR 8 126247056 126247056 single base substitution A T intron_variant BRCA-FR 8 126255810 126255810 single base substitution A C intron_variant BRCA-FR 8 126257107 126257107 single base substitution A T intron_variant BRCA-FR 8 126263869 126263869 single base substitution C T intron_variant BRCA-FR 8 126265707 126265707 single base substitution G A intron_variant BRCA-FR 8 126268206 126268206 single base substitution T A intron_variant BRCA-FR 8 126280377 126280377 single base substitution G A intron_variant BRCA-FR 8 126290722 126290722 single base substitution G C intron_variant BRCA-FR 8 126292733 126292733 single base substitution A G intron_variant BRCA-FR 8 126296257 126296257 single base substitution G A intron_variant BRCA-FR 8 126305378 126305378 single base substitution G C intron_variant BRCA-FR 8 126315079 126315079 single base substitution G C intron_variant BRCA-FR 8 126315769 126315769 single base substitution G A intron_variant BRCA-FR 8 126316577 126316577 single base substitution T G intron_variant BRCA-FR 8 126343984 126343984 single base substitution G A intron_variant BRCA-FR 8 126348211 126348211 single base substitution T A intron_variant BRCA-FR 8 126356806 126356806 single base substitution G A intron_variant BRCA-FR 8 126361904 126361904 single base substitution C T intron_variant BRCA-FR 8 126362131 126362131 single base substitution C T intron_variant BRCA-FR 8 126362339 126362339 single base substitution G C intron_variant BRCA-FR 8 126372775 126372775 single base substitution G C downstream_gene_variant BRCA-FR 8 126372775 126372775 single base substitution G C intron_variant BRCA-FR 8 126372775 126372775 single base substitution G C upstream_gene_variant BRCA-FR 8 126374228 126374228 single base substitution C T downstream_gene_variant BRCA-FR 8 126374228 126374228 single base substitution C T intron_variant BRCA-FR 8 126374228 126374228 single base substitution C T upstream_gene_variant BRCA-FR 8 126375325 126375325 single base substitution T A exon_variant BRCA-FR 8 126375325 126375325 single base substitution T A intron_variant BRCA-FR 8 126383308 126383308 single base substitution G A downstream_gene_variant BRCA-UK 8 126104744 126104744 single base substitution C A intron_variant BRCA-UK 8 126109996 126109996 single base substitution G T intron_variant BRCA-UK 8 126109996 126109996 single base substitution G T upstream_gene_variant BRCA-UK 8 126119029 126119029 single base substitution G A downstream_gene_variant BRCA-UK 8 126119029 126119029 single base substitution G A intron_variant BRCA-UK 8 126182902 126182902 single base substitution G C intron_variant BRCA-UK 8 126197317 126197317 single base substitution A G downstream_gene_variant BRCA-UK 8 126197317 126197317 single base substitution A G intron_variant BRCA-UK 8 126201439 126201439 single base substitution G C intron_variant BRCA-UK 8 126201912 126201912 single base substitution G T intron_variant BRCA-UK 8 126225571 126225571 single base substitution C G intron_variant BRCA-UK 8 126255743 126255743 single base substitution T A intron_variant BRCA-UK 8 126280311 126280311 single base substitution A T intron_variant BRCA-UK 8 126287482 126287482 single base substitution A T intron_variant BRCA-UK 8 126296364 126296364 single base substitution C G intron_variant BRCA-UK 8 126327692 126327692 single base substitution G C intron_variant BRCA-UK 8 126349888 126349888 single base substitution G C intron_variant BRCA-UK 8 126364747 126364747 single base substitution G C intron_variant BRCA-UK 8 126371419 126371419 single base substitution G C downstream_gene_variant BRCA-UK 8 126371419 126371419 single base substitution G C intron_variant BRCA-UK 8 126371419 126371419 single base substitution G C upstream_gene_variant BRCA-US 8 126194375 126194375 single base substitution G C 3_prime_UTR_variant BRCA-US 8 126194375 126194375 single base substitution G C exon_variant BRCA-US 8 126194375 126194375 single base substitution G C missense_variant D39H 115G>C BRCA-US 8 126194375 126194375 single base substitution G C missense_variant D99H 295G>C BRCA-US 8 126194393 126194393 single base substitution G C 3_prime_UTR_variant BRCA-US 8 126194393 126194393 single base substitution G C exon_variant BRCA-US 8 126194393 126194393 single base substitution G C missense_variant E105Q 313G>C BRCA-US 8 126194393 126194393 single base substitution G C missense_variant E45Q 133G>C BRCA-US 8 126379330 126379330 single base substitution C T 3_prime_UTR_variant BRCA-US 8 126379330 126379330 single base substitution C T downstream_gene_variant BRCA-US 8 126379330 126379330 single base substitution C T exon_variant BTCA-JP 8 126163397 126163397 deletion of <=200bp T - intron_variant BTCA-JP 8 126168114 126168114 single base substitution A T downstream_gene_variant BTCA-JP 8 126168114 126168114 single base substitution A T intron_variant BTCA-JP 8 126379121 126379121 single base substitution C T exon_variant BTCA-JP 8 126379121 126379121 single base substitution C T synonymous_variant S186S 558C>T BTCA-JP 8 126379121 126379121 single base substitution C T synonymous_variant S246S 738C>T CLLE-ES 8 126146755 126146755 single base substitution G A intron_variant CLLE-ES 8 126178234 126178234 single base substitution A T intron_variant CLLE-ES 8 126193184 126193184 single base substitution A G intron_variant CLLE-ES 8 126212413 126212413 single base substitution A T intron_variant CLLE-ES 8 126242557 126242557 single base substitution C A intron_variant CLLE-ES 8 126262576 126262576 single base substitution A T intron_variant CLLE-ES 8 126269868 126269868 single base substitution C T intron_variant CLLE-ES 8 126279387 126279387 single base substitution A G intron_variant CLLE-ES 8 126293167 126293167 single base substitution C G intron_variant CLLE-ES 8 126301515 126301515 single base substitution T G intron_variant CLLE-ES 8 126324273 126324273 single base substitution A T intron_variant CLLE-ES 8 126324451 126324451 single base substitution A T intron_variant CLLE-ES 8 126329943 126329943 single base substitution G C intron_variant CLLE-ES 8 126350514 126350514 single base substitution A T intron_variant COAD-US 8 126163507 126163507 single base substitution T C 3_prime_UTR_variant COAD-US 8 126163507 126163507 single base substitution T C exon_variant COAD-US 8 126163507 126163507 single base substitution T C synonymous_variant S24S 72T>C COAD-US 8 126163507 126163507 single base substitution T C synonymous_variant S84S 252T>C COAD-US 8 126379013 126379013 single base substitution C T exon_variant COAD-US 8 126379013 126379013 single base substitution C T synonymous_variant C150C 450C>T COAD-US 8 126379013 126379013 single base substitution C T synonymous_variant C210C 630C>T COCA-CN 8 126142555 126142555 single base substitution A G 3_prime_UTR_variant COCA-CN 8 126142555 126142555 single base substitution A G intron_variant COCA-CN 8 126154113 126154113 single base substitution C T intron_variant COCA-CN 8 126154784 126154784 single base substitution G A intron_variant COCA-CN 8 126163607 126163607 single base substitution C A exon_variant COCA-CN 8 126163607 126163607 single base substitution C A intron_variant COCA-CN 8 126196284 126196284 single base substitution A C downstream_gene_variant COCA-CN 8 126196284 126196284 single base substitution A C intron_variant COCA-CN 8 126207444 126207444 single base substitution G C intron_variant COCA-CN 8 126212563 126212563 single base substitution C T intron_variant COCA-CN 8 126217799 126217799 single base substitution G C intron_variant COCA-CN 8 126217979 126217979 single base substitution G T intron_variant COCA-CN 8 126218073 126218073 single base substitution G C intron_variant COCA-CN 8 126218104 126218104 single base substitution G A intron_variant COCA-CN 8 126218168 126218168 single base substitution A G intron_variant COCA-CN 8 126218204 126218204 single base substitution C T intron_variant COCA-CN 8 126225947 126225947 single base substitution C T intron_variant COCA-CN 8 126227755 126227755 single base substitution G T intron_variant COCA-CN 8 126230789 126230789 single base substitution G C intron_variant COCA-CN 8 126230871 126230871 single base substitution C A intron_variant COCA-CN 8 126231051 126231051 single base substitution G C intron_variant COCA-CN 8 126252378 126252378 single base substitution T C intron_variant COCA-CN 8 126256018 126256018 single base substitution A G intron_variant COCA-CN 8 126256027 126256027 single base substitution G T intron_variant COCA-CN 8 126262576 126262576 single base substitution A T intron_variant COCA-CN 8 126268020 126268020 single base substitution A G intron_variant COCA-CN 8 126274370 126274370 single base substitution T A intron_variant COCA-CN 8 126296398 126296398 single base substitution G A intron_variant COCA-CN 8 126328927 126328927 single base substitution A T intron_variant COCA-CN 8 126328945 126328945 single base substitution C T intron_variant COCA-CN 8 126328949 126328949 single base substitution C T intron_variant COCA-CN 8 126328955 126328955 single base substitution T C intron_variant COCA-CN 8 126328961 126328961 single base substitution T C intron_variant COCA-CN 8 126328965 126328965 single base substitution T C intron_variant COCA-CN 8 126328974 126328974 single base substitution T C intron_variant COCA-CN 8 126341097 126341097 single base substitution A T intron_variant COCA-CN 8 126362356 126362356 single base substitution G A intron_variant COCA-CN 8 126362357 126362357 single base substitution T G intron_variant COCA-CN 8 126375916 126375916 single base substitution A G intron_variant COCA-CN 8 126380745 126380745 single base substitution G A downstream_gene_variant EOPC-DE 8 126103381 126103381 single base substitution T C upstream_gene_variant EOPC-DE 8 126111167 126111167 single base substitution G A intron_variant EOPC-DE 8 126111167 126111167 single base substitution G A upstream_gene_variant EOPC-DE 8 126112568 126112568 single base substitution C A intron_variant EOPC-DE 8 126112568 126112568 single base substitution C A upstream_gene_variant EOPC-DE 8 126264737 126264737 single base substitution C G intron_variant EOPC-DE 8 126290821 126290821 single base substitution C G intron_variant EOPC-DE 8 126290827 126290827 single base substitution A T intron_variant EOPC-DE 8 126382301 126382301 single base substitution C T downstream_gene_variant ESAD-UK 8 126098978 126098978 single base substitution T C upstream_gene_variant ESAD-UK 8 126100458 126100458 single base substitution C T upstream_gene_variant ESAD-UK 8 126101519 126101519 single base substitution A G upstream_gene_variant ESAD-UK 8 126102103 126102103 single base substitution T C upstream_gene_variant ESAD-UK 8 126103382 126103382 single base substitution C T upstream_gene_variant ESAD-UK 8 126109007 126109007 single base substitution C G intron_variant ESAD-UK 8 126110659 126110659 single base substitution A G intron_variant ESAD-UK 8 126110659 126110659 single base substitution A G upstream_gene_variant ESAD-UK 8 126110718 126110718 single base substitution G A intron_variant ESAD-UK 8 126110718 126110718 single base substitution G A upstream_gene_variant ESAD-UK 8 126115393 126115393 insertion of <=200bp - A downstream_gene_variant ESAD-UK 8 126115393 126115393 insertion of <=200bp - A intron_variant ESAD-UK 8 126115958 126115958 single base substitution G A downstream_gene_variant ESAD-UK 8 126115958 126115958 single base substitution G A intron_variant ESAD-UK 8 126116923 126116923 single base substitution C A downstream_gene_variant ESAD-UK 8 126116923 126116923 single base substitution C A intron_variant ESAD-UK 8 126117373 126117373 single base substitution A G downstream_gene_variant ESAD-UK 8 126117373 126117373 single base substitution A G intron_variant ESAD-UK 8 126118168 126118168 single base substitution T G downstream_gene_variant ESAD-UK 8 126118168 126118168 single base substitution T G intron_variant ESAD-UK 8 126118275 126118275 single base substitution C T downstream_gene_variant ESAD-UK 8 126118275 126118275 single base substitution C T intron_variant ESAD-UK 8 126120363 126120363 single base substitution T G intron_variant ESAD-UK 8 126122161 126122161 deletion of <=200bp T - intron_variant ESAD-UK 8 126122184 126122184 single base substitution T G intron_variant ESAD-UK 8 126123648 126123648 insertion of <=200bp - A intron_variant ESAD-UK 8 126124271 126124271 single base substitution A C intron_variant ESAD-UK 8 126125745 126125745 single base substitution T A intron_variant ESAD-UK 8 126127978 126127978 single base substitution A C intron_variant ESAD-UK 8 126128718 126128718 single base substitution G T intron_variant ESAD-UK 8 126128813 126128813 single base substitution C T intron_variant ESAD-UK 8 126129791 126129791 deletion of <=200bp T - intron_variant ESAD-UK 8 126129931 126129931 single base substitution T A intron_variant ESAD-UK 8 126132559 126132559 single base substitution G A intron_variant ESAD-UK 8 126132559 126132559 single base substitution G A upstream_gene_variant ESAD-UK 8 126136585 126136585 single base substitution G T intron_variant ESAD-UK 8 126136693 126136693 single base substitution A T intron_variant ESAD-UK 8 126137651 126137651 single base substitution G A intron_variant ESAD-UK 8 126141587 126141587 single base substitution G T intron_variant ESAD-UK 8 126142597 126142597 single base substitution G A intron_variant ESAD-UK 8 126142597 126142597 single base substitution G A splice_donor_variant ESAD-UK 8 126143228 126143228 single base substitution C A intron_variant ESAD-UK 8 126146427 126146427 single base substitution G A intron_variant ESAD-UK 8 126146993 126146993 single base substitution G A intron_variant ESAD-UK 8 126147267 126147267 single base substitution A G intron_variant ESAD-UK 8 126147598 126147598 single base substitution A G intron_variant ESAD-UK 8 126148340 126148340 single base substitution T A intron_variant ESAD-UK 8 126150405 126150405 single base substitution A G intron_variant ESAD-UK 8 126150839 126150839 single base substitution A G intron_variant ESAD-UK 8 126155192 126155192 single base substitution A C intron_variant ESAD-UK 8 126155473 126155473 single base substitution G C intron_variant ESAD-UK 8 126156133 126156133 single base substitution G A intron_variant ESAD-UK 8 126156901 126156901 single base substitution C A intron_variant ESAD-UK 8 126157558 126157558 single base substitution A C intron_variant ESAD-UK 8 126159507 126159507 single base substitution T C intron_variant ESAD-UK 8 126160378 126160378 deletion of <=200bp T - intron_variant ESAD-UK 8 126162570 126162572 deletion of <=200bp TTC - intron_variant ESAD-UK 8 126162862 126162862 single base substitution G A intron_variant ESAD-UK 8 126163569 126163569 single base substitution C G exon_variant ESAD-UK 8 126163569 126163569 single base substitution C G intron_variant ESAD-UK 8 126165452 126165452 single base substitution C T downstream_gene_variant ESAD-UK 8 126165452 126165452 single base substitution C T intron_variant ESAD-UK 8 126168651 126168651 single base substitution C G downstream_gene_variant ESAD-UK 8 126168651 126168651 single base substitution C G intron_variant ESAD-UK 8 126169065 126169065 single base substitution C G downstream_gene_variant ESAD-UK 8 126169065 126169065 single base substitution C G intron_variant ESAD-UK 8 126169865 126169865 single base substitution C A downstream_gene_variant ESAD-UK 8 126169865 126169865 single base substitution C A intron_variant ESAD-UK 8 126173537 126173537 single base substitution C A intron_variant ESAD-UK 8 126173545 126173545 single base substitution A T intron_variant ESAD-UK 8 126174307 126174307 single base substitution C G intron_variant ESAD-UK 8 126174711 126174711 single base substitution G A intron_variant ESAD-UK 8 126175214 126175214 single base substitution C T intron_variant ESAD-UK 8 126175299 126175299 single base substitution A C intron_variant ESAD-UK 8 126178504 126178506 deletion of <=200bp TTG - intron_variant ESAD-UK 8 126178755 126178755 single base substitution C T intron_variant ESAD-UK 8 126179025 126179025 single base substitution G A intron_variant ESAD-UK 8 126179231 126179231 single base substitution G A intron_variant ESAD-UK 8 126179387 126179387 single base substitution G T intron_variant ESAD-UK 8 126179400 126179400 single base substitution G C intron_variant ESAD-UK 8 126179418 126179418 single base substitution G C intron_variant ESAD-UK 8 126179737 126179737 single base substitution T A intron_variant ESAD-UK 8 126179739 126179739 single base substitution T C intron_variant ESAD-UK 8 126179740 126179740 single base substitution C T intron_variant ESAD-UK 8 126181174 126181174 single base substitution A G intron_variant ESAD-UK 8 126183883 126183883 single base substitution G A intron_variant ESAD-UK 8 126184863 126184863 insertion of <=200bp - T intron_variant ESAD-UK 8 126185887 126185887 single base substitution G A intron_variant ESAD-UK 8 126187868 126187868 single base substitution G T intron_variant ESAD-UK 8 126188702 126188702 insertion of <=200bp - T intron_variant ESAD-UK 8 126189791 126189791 single base substitution C T intron_variant ESAD-UK 8 126193494 126193494 single base substitution A G intron_variant ESAD-UK 8 126194624 126194624 single base substitution C T 3_prime_UTR_variant ESAD-UK 8 126194624 126194624 single base substitution C T downstream_gene_variant ESAD-UK 8 126194624 126194624 single base substitution C T exon_variant ESAD-UK 8 126194624 126194624 single base substitution C T intron_variant ESAD-UK 8 126199295 126199295 single base substitution A T downstream_gene_variant ESAD-UK 8 126199295 126199295 single base substitution A T intron_variant ESAD-UK 8 126201821 126201821 single base substitution G A intron_variant ESAD-UK 8 126201846 126201846 single base substitution C T intron_variant ESAD-UK 8 126203109 126203109 single base substitution A G intron_variant ESAD-UK 8 126204593 126204596 deletion of <=200bp AGTT - intron_variant ESAD-UK 8 126206148 126206148 single base substitution A C intron_variant ESAD-UK 8 126206960 126206960 insertion of <=200bp - A intron_variant ESAD-UK 8 126207340 126207340 single base substitution C T intron_variant ESAD-UK 8 126209480 126209480 single base substitution T G intron_variant ESAD-UK 8 126210041 126210041 single base substitution T C intron_variant ESAD-UK 8 126210289 126210289 single base substitution G C intron_variant ESAD-UK 8 126210702 126210702 single base substitution C T intron_variant ESAD-UK 8 126211721 126211721 single base substitution G A intron_variant ESAD-UK 8 126212076 126212076 single base substitution G A intron_variant ESAD-UK 8 126213132 126213132 single base substitution C T intron_variant ESAD-UK 8 126215388 126215388 deletion of <=200bp A - intron_variant ESAD-UK 8 126215704 126215704 single base substitution C T intron_variant ESAD-UK 8 126216633 126216633 single base substitution C T intron_variant ESAD-UK 8 126217006 126217006 single base substitution C G intron_variant ESAD-UK 8 126217295 126217295 single base substitution C A intron_variant ESAD-UK 8 126218762 126218762 single base substitution G T intron_variant ESAD-UK 8 126219138 126219138 single base substitution A C intron_variant ESAD-UK 8 126219937 126219937 single base substitution G A intron_variant ESAD-UK 8 126220871 126220871 single base substitution G A intron_variant ESAD-UK 8 126222117 126222117 single base substitution C A intron_variant ESAD-UK 8 126223734 126223734 single base substitution T G intron_variant ESAD-UK 8 126225927 126225927 single base substitution C T intron_variant ESAD-UK 8 126227021 126227021 single base substitution G T intron_variant ESAD-UK 8 126228145 126228145 single base substitution C T intron_variant ESAD-UK 8 126228608 126228608 single base substitution G A intron_variant ESAD-UK 8 126230660 126230660 single base substitution T G intron_variant ESAD-UK 8 126232794 126232794 single base substitution G A intron_variant ESAD-UK 8 126233579 126233579 single base substitution C A intron_variant ESAD-UK 8 126235199 126235199 single base substitution G A intron_variant ESAD-UK 8 126235444 126235444 insertion of <=200bp - A intron_variant ESAD-UK 8 126240114 126240114 deletion of <=200bp T - intron_variant ESAD-UK 8 126240911 126240911 single base substitution T C intron_variant ESAD-UK 8 126242322 126242322 single base substitution A T intron_variant ESAD-UK 8 126244134 126244134 single base substitution A G intron_variant ESAD-UK 8 126245110 126245110 single base substitution G T intron_variant ESAD-UK 8 126245506 126245506 single base substitution A G intron_variant ESAD-UK 8 126245517 126245517 single base substitution G A intron_variant ESAD-UK 8 126245525 126245525 single base substitution G A intron_variant ESAD-UK 8 126245549 126245549 single base substitution G A intron_variant ESAD-UK 8 126245576 126245576 single base substitution G A intron_variant ESAD-UK 8 126245619 126245619 single base substitution A T intron_variant ESAD-UK 8 126245661 126245661 single base substitution C G intron_variant ESAD-UK 8 126245685 126245685 single base substitution G A intron_variant ESAD-UK 8 126246422 126246422 single base substitution G A intron_variant ESAD-UK 8 126249479 126249479 single base substitution G A intron_variant ESAD-UK 8 126250622 126250622 single base substitution C T intron_variant ESAD-UK 8 126251254 126251254 single base substitution G A intron_variant ESAD-UK 8 126251528 126251528 single base substitution A G intron_variant ESAD-UK 8 126255322 126255322 single base substitution A T intron_variant ESAD-UK 8 126255744 126255744 single base substitution A T intron_variant ESAD-UK 8 126257054 126257054 deletion of <=200bp T - intron_variant ESAD-UK 8 126257451 126257451 single base substitution G A intron_variant ESAD-UK 8 126261388 126261388 deletion of <=200bp G - intron_variant ESAD-UK 8 126261888 126261888 single base substitution G T intron_variant ESAD-UK 8 126262758 126262758 single base substitution A T intron_variant ESAD-UK 8 126264768 126264768 deletion of <=200bp A - intron_variant ESAD-UK 8 126265596 126265596 single base substitution A C intron_variant ESAD-UK 8 126269225 126269225 single base substitution G C intron_variant ESAD-UK 8 126269242 126269242 single base substitution G A intron_variant ESAD-UK 8 126271619 126271619 single base substitution T A intron_variant ESAD-UK 8 126272741 126272741 single base substitution C T intron_variant ESAD-UK 8 126274982 126274982 single base substitution G T intron_variant ESAD-UK 8 126276607 126276607 single base substitution T G intron_variant ESAD-UK 8 126276932 126276932 single base substitution G T intron_variant ESAD-UK 8 126277213 126277213 single base substitution G A intron_variant ESAD-UK 8 126279229 126279229 insertion of <=200bp - CTTTT intron_variant ESAD-UK 8 126279849 126279849 single base substitution G A intron_variant ESAD-UK 8 126280622 126280622 deletion of <=200bp A - intron_variant ESAD-UK 8 126281305 126281305 single base substitution G A intron_variant ESAD-UK 8 126283570 126283570 single base substitution A G intron_variant ESAD-UK 8 126283655 126283655 single base substitution G A intron_variant ESAD-UK 8 126284160 126284160 single base substitution C A intron_variant ESAD-UK 8 126285053 126285053 single base substitution A G intron_variant ESAD-UK 8 126285054 126285054 single base substitution C T intron_variant ESAD-UK 8 126289177 126289177 single base substitution A G intron_variant ESAD-UK 8 126289966 126289966 single base substitution C A intron_variant ESAD-UK 8 126292517 126292517 single base substitution T C intron_variant ESAD-UK 8 126292551 126292551 single base substitution G T intron_variant ESAD-UK 8 126292553 126292553 single base substitution G A intron_variant ESAD-UK 8 126293751 126293751 single base substitution G A intron_variant ESAD-UK 8 126294442 126294442 single base substitution C T intron_variant ESAD-UK 8 126294475 126294475 single base substitution C T intron_variant ESAD-UK 8 126295740 126295740 single base substitution C T intron_variant ESAD-UK 8 126295949 126295949 single base substitution G A intron_variant ESAD-UK 8 126296483 126296483 insertion of <=200bp - A intron_variant ESAD-UK 8 126299690 126299690 single base substitution A G intron_variant ESAD-UK 8 126300265 126300265 single base substitution G A intron_variant ESAD-UK 8 126304229 126304229 single base substitution A G intron_variant ESAD-UK 8 126304248 126304248 single base substitution T C intron_variant ESAD-UK 8 126304478 126304478 single base substitution G A intron_variant ESAD-UK 8 126304492 126304492 insertion of <=200bp - AAG intron_variant ESAD-UK 8 126308246 126308246 single base substitution G T intron_variant ESAD-UK 8 126309378 126309378 single base substitution A G intron_variant ESAD-UK 8 126311347 126311347 single base substitution A G intron_variant ESAD-UK 8 126318864 126318864 single base substitution T G intron_variant ESAD-UK 8 126319181 126319181 single base substitution T C intron_variant ESAD-UK 8 126320019 126320019 single base substitution C T intron_variant ESAD-UK 8 126320565 126320565 deletion of <=200bp A - intron_variant ESAD-UK 8 126320571 126320571 single base substitution T C intron_variant ESAD-UK 8 126320894 126320894 single base substitution A C intron_variant ESAD-UK 8 126322838 126322838 single base substitution T C intron_variant ESAD-UK 8 126323690 126323690 single base substitution C G intron_variant ESAD-UK 8 126323862 126323862 single base substitution G A intron_variant ESAD-UK 8 126326591 126326591 single base substitution G T intron_variant ESAD-UK 8 126326935 126326935 single base substitution G T intron_variant ESAD-UK 8 126329153 126329153 single base substitution T A intron_variant ESAD-UK 8 126330320 126330320 single base substitution G A intron_variant ESAD-UK 8 126335538 126335538 single base substitution A T intron_variant ESAD-UK 8 126337537 126337541 deletion of <=200bp TAAAA - intron_variant ESAD-UK 8 126342015 126342015 single base substitution G A intron_variant ESAD-UK 8 126342573 126342573 single base substitution A G intron_variant ESAD-UK 8 126344540 126344540 single base substitution T C intron_variant ESAD-UK 8 126347964 126347964 single base substitution C A intron_variant ESAD-UK 8 126347985 126347985 single base substitution A G intron_variant ESAD-UK 8 126348564 126348564 single base substitution T C intron_variant ESAD-UK 8 126348630 126348630 single base substitution C T intron_variant ESAD-UK 8 126349545 126349545 single base substitution A G intron_variant ESAD-UK 8 126350776 126350776 single base substitution G C intron_variant ESAD-UK 8 126351198 126351198 single base substitution A G intron_variant ESAD-UK 8 126352581 126352581 single base substitution A G intron_variant ESAD-UK 8 126352915 126352915 single base substitution G T intron_variant ESAD-UK 8 126352950 126352950 single base substitution C T intron_variant ESAD-UK 8 126356811 126356811 single base substitution C A intron_variant ESAD-UK 8 126357010 126357010 single base substitution A C intron_variant ESAD-UK 8 126359150 126359150 single base substitution T C intron_variant ESAD-UK 8 126361648 126361648 single base substitution C A intron_variant ESAD-UK 8 126361740 126361740 single base substitution C T intron_variant ESAD-UK 8 126363081 126363081 single base substitution T A intron_variant ESAD-UK 8 126363482 126363482 single base substitution C T intron_variant ESAD-UK 8 126364079 126364079 single base substitution C A intron_variant ESAD-UK 8 126364146 126364146 single base substitution T G intron_variant ESAD-UK 8 126367276 126367276 single base substitution G T intron_variant ESAD-UK 8 126367346 126367346 single base substitution G A intron_variant ESAD-UK 8 126369616 126369616 single base substitution G A intron_variant ESAD-UK 8 126370021 126370021 single base substitution G A downstream_gene_variant ESAD-UK 8 126370021 126370021 single base substitution G A missense_variant R136H 407G>A ESAD-UK 8 126370021 126370021 single base substitution G A missense_variant R196H 587G>A ESAD-UK 8 126370552 126370552 single base substitution G A downstream_gene_variant ESAD-UK 8 126370552 126370552 single base substitution G A intron_variant ESAD-UK 8 126370552 126370552 single base substitution G A upstream_gene_variant ESAD-UK 8 126370744 126370745 deletion of <=200bp AC - downstream_gene_variant ESAD-UK 8 126370744 126370745 deletion of <=200bp AC - intron_variant ESAD-UK 8 126370744 126370745 deletion of <=200bp AC - upstream_gene_variant ESAD-UK 8 126370904 126370904 single base substitution A G downstream_gene_variant ESAD-UK 8 126370904 126370904 single base substitution A G intron_variant ESAD-UK 8 126370904 126370904 single base substitution A G upstream_gene_variant ESAD-UK 8 126372095 126372095 single base substitution G A downstream_gene_variant ESAD-UK 8 126372095 126372095 single base substitution G A intron_variant ESAD-UK 8 126372095 126372095 single base substitution G A upstream_gene_variant ESAD-UK 8 126372779 126372779 single base substitution G A downstream_gene_variant ESAD-UK 8 126372779 126372779 single base substitution G A intron_variant ESAD-UK 8 126372779 126372779 single base substitution G A upstream_gene_variant ESAD-UK 8 126372982 126372982 single base substitution G T downstream_gene_variant ESAD-UK 8 126372982 126372982 single base substitution G T intron_variant ESAD-UK 8 126372982 126372982 single base substitution G T upstream_gene_variant ESAD-UK 8 126373825 126373825 single base substitution C T downstream_gene_variant ESAD-UK 8 126373825 126373825 single base substitution C T intron_variant ESAD-UK 8 126373825 126373825 single base substitution C T upstream_gene_variant ESAD-UK 8 126376813 126376813 single base substitution T C intron_variant ESAD-UK 8 126377346 126377346 single base substitution T G intron_variant ESAD-UK 8 126380375 126380375 single base substitution G A downstream_gene_variant ESCA-CN 8 126114674 126114674 single base substitution C G exon_variant ESCA-CN 8 126114674 126114674 single base substitution C G missense_variant I34M 102C>G ESCA-CN 8 126194415 126194415 single base substitution A T 3_prime_UTR_variant ESCA-CN 8 126194415 126194415 single base substitution A T exon_variant ESCA-CN 8 126194415 126194415 single base substitution A T missense_variant Q112L 335A>T ESCA-CN 8 126194415 126194415 single base substitution A T missense_variant Q52L 155A>T KIRC-US 8 126114663 126114663 insertion of <=200bp - A exon_variant KIRC-US 8 126114663 126114663 insertion of <=200bp - A frameshift_variant Q31T? LAML-KR 8 126235290 126235290 single base substitution T C intron_variant LAML-KR 8 126235291 126235291 single base substitution G A intron_variant LAML-KR 8 126284274 126284274 single base substitution G T intron_variant LICA-FR 8 126146765 126146765 single base substitution A G intron_variant LICA-FR 8 126168319 126168319 single base substitution C T 3_prime_UTR_variant LICA-FR 8 126168319 126168319 single base substitution C T downstream_gene_variant LICA-FR 8 126168319 126168319 single base substitution C T exon_variant LICA-FR 8 126168319 126168319 single base substitution C T intron_variant LICA-FR 8 126202960 126202960 insertion of <=200bp - T intron_variant LICA-FR 8 126225728 126225747 deletion of <=200bp TCTCCTCTCCTCTCCTCTCC - intron_variant LICA-FR 8 126235828 126235828 single base substitution C T intron_variant LICA-FR 8 126246168 126246168 single base substitution C G intron_variant LICA-FR 8 126251545 126251545 single base substitution A G intron_variant LICA-FR 8 126251851 126251852 deletion of <=200bp AA - intron_variant LICA-FR 8 126268524 126268524 deletion of <=200bp A - intron_variant LICA-FR 8 126268524 126268524 insertion of <=200bp - A intron_variant LICA-FR 8 126274340 126274340 insertion of <=200bp - AAAAT intron_variant LICA-FR 8 126285587 126285587 single base substitution A G intron_variant LICA-FR 8 126297464 126297464 single base substitution T G intron_variant LICA-FR 8 126317577 126317577 single base substitution G A intron_variant LICA-FR 8 126324333 126324333 insertion of <=200bp - AG intron_variant LICA-FR 8 126328839 126328859 deletion of <=200bp TTTCCTTCTTTCCTTTCTTTA - intron_variant LICA-FR 8 126349510 126349510 single base substitution G A intron_variant LICA-FR 8 126357640 126357640 single base substitution A G intron_variant LICA-FR 8 126358541 126358541 single base substitution A G intron_variant LICA-FR 8 126364041 126364041 single base substitution T A intron_variant LINC-JP 8 126103147 126103147 single base substitution G T upstream_gene_variant LINC-JP 8 126105910 126105910 single base substitution A T intron_variant LINC-JP 8 126122307 126122307 single base substitution T G intron_variant LINC-JP 8 126123004 126123004 single base substitution G T intron_variant LINC-JP 8 126123804 126123804 single base substitution G A intron_variant LINC-JP 8 126132000 126132000 single base substitution G T intron_variant LINC-JP 8 126132000 126132000 single base substitution G T upstream_gene_variant LINC-JP 8 126134357 126134357 single base substitution A G intron_variant LINC-JP 8 126134357 126134357 single base substitution A G upstream_gene_variant LINC-JP 8 126143337 126143337 single base substitution A G intron_variant LINC-JP 8 126157686 126157686 single base substitution A G intron_variant LINC-JP 8 126163585 126163585 deletion of <=200bp A - exon_variant LINC-JP 8 126163585 126163585 deletion of <=200bp A - intron_variant LINC-JP 8 126166754 126166754 deletion of <=200bp A - downstream_gene_variant LINC-JP 8 126166754 126166754 deletion of <=200bp A - intron_variant LINC-JP 8 126175280 126175280 single base substitution T A intron_variant LINC-JP 8 126189799 126189799 single base substitution C A intron_variant LINC-JP 8 126221771 126221771 single base substitution A G intron_variant LINC-JP 8 126225949 126225949 single base substitution C T intron_variant LINC-JP 8 126228463 126228463 single base substitution A G intron_variant LINC-JP 8 126253130 126253130 single base substitution C T intron_variant LINC-JP 8 126261758 126261758 single base substitution G C intron_variant LINC-JP 8 126273534 126273534 single base substitution T G intron_variant LINC-JP 8 126327364 126327364 single base substitution C T intron_variant LINC-JP 8 126332322 126332322 single base substitution G A intron_variant LINC-JP 8 126336062 126336062 single base substitution G C intron_variant LINC-JP 8 126345747 126345747 single base substitution C T intron_variant LINC-JP 8 126358207 126358207 single base substitution G A intron_variant LINC-JP 8 126367740 126367740 single base substitution A G intron_variant LINC-JP 8 126370044 126370044 single base substitution C T downstream_gene_variant LINC-JP 8 126370044 126370044 single base substitution C T missense_variant R144W 430C>T LINC-JP 8 126370044 126370044 single base substitution C T missense_variant R204W 610C>T LINC-JP 8 126374920 126374920 single base substitution C T downstream_gene_variant LINC-JP 8 126374920 126374920 single base substitution C T intron_variant LINC-JP 8 126374920 126374920 single base substitution C T upstream_gene_variant LIRI-JP 8 126100346 126100346 single base substitution A G upstream_gene_variant LIRI-JP 8 126104000 126104000 single base substitution G A 5_prime_UTR_variant LIRI-JP 8 126104000 126104000 single base substitution G A upstream_gene_variant LIRI-JP 8 126105058 126105068 deletion of <=200bp GATCCAAGAGA - intron_variant LIRI-JP 8 126105766 126105766 single base substitution A G intron_variant LIRI-JP 8 126107312 126107312 single base substitution C T intron_variant LIRI-JP 8 126109682 126109682 deletion of <=200bp A - intron_variant LIRI-JP 8 126109682 126109682 deletion of <=200bp A - upstream_gene_variant LIRI-JP 8 126109792 126109792 single base substitution C G intron_variant LIRI-JP 8 126109792 126109792 single base substitution C G upstream_gene_variant LIRI-JP 8 126110492 126110505 deletion of <=200bp AGTTAGAATTACAT - intron_variant LIRI-JP 8 126110492 126110505 deletion of <=200bp AGTTAGAATTACAT - upstream_gene_variant LIRI-JP 8 126111432 126111432 single base substitution A G intron_variant LIRI-JP 8 126111432 126111432 single base substitution A G upstream_gene_variant LIRI-JP 8 126111590 126111590 single base substitution A G intron_variant LIRI-JP 8 126111590 126111590 single base substitution A G upstream_gene_variant LIRI-JP 8 126112037 126112037 single base substitution C T intron_variant LIRI-JP 8 126112037 126112037 single base substitution C T upstream_gene_variant LIRI-JP 8 126113440 126113440 single base substitution A G intron_variant LIRI-JP 8 126113440 126113440 single base substitution A G upstream_gene_variant LIRI-JP 8 126113750 126113750 single base substitution C A intron_variant LIRI-JP 8 126113750 126113750 single base substitution C A upstream_gene_variant LIRI-JP 8 126115734 126115734 single base substitution A G downstream_gene_variant LIRI-JP 8 126115734 126115734 single base substitution A G intron_variant LIRI-JP 8 126117818 126117818 single base substitution G A downstream_gene_variant LIRI-JP 8 126117818 126117818 single base substitution G A intron_variant LIRI-JP 8 126120498 126120498 deletion of <=200bp G - intron_variant LIRI-JP 8 126120774 126120774 single base substitution C T intron_variant LIRI-JP 8 126121550 126121550 single base substitution A G intron_variant LIRI-JP 8 126122228 126122228 single base substitution C A intron_variant LIRI-JP 8 126128104 126128104 single base substitution A G intron_variant LIRI-JP 8 126129788 126129788 single base substitution T G intron_variant LIRI-JP 8 126129806 126129806 single base substitution G T intron_variant LIRI-JP 8 126130115 126130115 single base substitution G A intron_variant LIRI-JP 8 126133014 126133014 single base substitution T C intron_variant LIRI-JP 8 126133014 126133014 single base substitution T C upstream_gene_variant LIRI-JP 8 126134359 126134359 single base substitution A C intron_variant LIRI-JP 8 126134359 126134359 single base substitution A C upstream_gene_variant LIRI-JP 8 126136022 126136022 single base substitution A G intron_variant LIRI-JP 8 126136022 126136022 single base substitution A G upstream_gene_variant LIRI-JP 8 126137411 126137411 single base substitution T A intron_variant LIRI-JP 8 126149922 126149922 deletion of <=200bp T - intron_variant LIRI-JP 8 126150646 126150646 single base substitution T A intron_variant LIRI-JP 8 126150765 126150765 single base substitution G C intron_variant LIRI-JP 8 126150992 126150992 single base substitution C T intron_variant LIRI-JP 8 126151975 126151975 single base substitution A G intron_variant LIRI-JP 8 126152300 126152300 single base substitution C G intron_variant LIRI-JP 8 126154328 126154328 single base substitution G A intron_variant LIRI-JP 8 126155486 126155486 single base substitution T C intron_variant LIRI-JP 8 126157185 126157185 single base substitution A G intron_variant LIRI-JP 8 126157441 126157441 single base substitution T G intron_variant LIRI-JP 8 126160677 126160677 single base substitution A T intron_variant LIRI-JP 8 126163410 126163410 single base substitution C T intron_variant LIRI-JP 8 126163410 126163410 single base substitution C T splice_region_variant LIRI-JP 8 126163476 126163476 single base substitution A G 3_prime_UTR_variant LIRI-JP 8 126163476 126163476 single base substitution A G exon_variant LIRI-JP 8 126163476 126163476 single base substitution A G missense_variant Q14R 41A>G LIRI-JP 8 126163476 126163476 single base substitution A G missense_variant Q74R 221A>G LIRI-JP 8 126164709 126164709 single base substitution G C downstream_gene_variant LIRI-JP 8 126164709 126164709 single base substitution G C intron_variant LIRI-JP 8 126165675 126165675 single base substitution A G downstream_gene_variant LIRI-JP 8 126165675 126165675 single base substitution A G intron_variant LIRI-JP 8 126165705 126165718 deletion of <=200bp TTTTGAGGGAAATG - downstream_gene_variant LIRI-JP 8 126165705 126165718 deletion of <=200bp TTTTGAGGGAAATG - intron_variant LIRI-JP 8 126167371 126167371 single base substitution T G downstream_gene_variant LIRI-JP 8 126167371 126167371 single base substitution T G intron_variant LIRI-JP 8 126170642 126170642 single base substitution T C downstream_gene_variant LIRI-JP 8 126170642 126170642 single base substitution T C intron_variant LIRI-JP 8 126171782 126171782 single base substitution G A downstream_gene_variant LIRI-JP 8 126171782 126171782 single base substitution G A intron_variant LIRI-JP 8 126172695 126172695 single base substitution A C downstream_gene_variant LIRI-JP 8 126172695 126172695 single base substitution A C intron_variant LIRI-JP 8 126172823 126172823 single base substitution C A downstream_gene_variant LIRI-JP 8 126172823 126172823 single base substitution C A intron_variant LIRI-JP 8 126173034 126173034 single base substitution G A downstream_gene_variant LIRI-JP 8 126173034 126173034 single base substitution G A intron_variant LIRI-JP 8 126173875 126173875 single base substitution A C intron_variant LIRI-JP 8 126175195 126175195 single base substitution A G intron_variant LIRI-JP 8 126182087 126182087 single base substitution C T intron_variant LIRI-JP 8 126183696 126183696 single base substitution C T intron_variant LIRI-JP 8 126186109 126186109 single base substitution A G intron_variant LIRI-JP 8 126187335 126187335 single base substitution T G intron_variant LIRI-JP 8 126189041 126189041 single base substitution T C intron_variant LIRI-JP 8 126191076 126191076 single base substitution C T intron_variant LIRI-JP 8 126194714 126194714 single base substitution G A downstream_gene_variant LIRI-JP 8 126194714 126194714 single base substitution G A exon_variant LIRI-JP 8 126194714 126194714 single base substitution G A intron_variant LIRI-JP 8 126195074 126195074 single base substitution T G downstream_gene_variant LIRI-JP 8 126195074 126195074 single base substitution T G intron_variant LIRI-JP 8 126196011 126196011 single base substitution T C downstream_gene_variant LIRI-JP 8 126196011 126196011 single base substitution T C intron_variant LIRI-JP 8 126198664 126198664 single base substitution A G downstream_gene_variant LIRI-JP 8 126198664 126198664 single base substitution A G intron_variant LIRI-JP 8 126203820 126203820 single base substitution A G intron_variant LIRI-JP 8 126208857 126208857 single base substitution G A intron_variant LIRI-JP 8 126209398 126209398 single base substitution A G intron_variant LIRI-JP 8 126210494 126210494 single base substitution C T intron_variant LIRI-JP 8 126213308 126213308 single base substitution C T intron_variant LIRI-JP 8 126213446 126213446 single base substitution G A intron_variant LIRI-JP 8 126213802 126213802 single base substitution G T intron_variant LIRI-JP 8 126215756 126215756 single base substitution A G intron_variant LIRI-JP 8 126216551 126216551 single base substitution G A intron_variant LIRI-JP 8 126216721 126216721 single base substitution A G intron_variant LIRI-JP 8 126219784 126219784 single base substitution A G intron_variant LIRI-JP 8 126220565 126220565 single base substitution G A intron_variant LIRI-JP 8 126221432 126221432 single base substitution C T intron_variant LIRI-JP 8 126222373 126222373 single base substitution C T intron_variant LIRI-JP 8 126226467 126226467 single base substitution A G intron_variant LIRI-JP 8 126229797 126229797 single base substitution A G intron_variant LIRI-JP 8 126231242 126231242 single base substitution A C intron_variant LIRI-JP 8 126231616 126231616 deletion of <=200bp T - intron_variant LIRI-JP 8 126231733 126231733 single base substitution A C intron_variant LIRI-JP 8 126233548 126233548 single base substitution C T intron_variant LIRI-JP 8 126234002 126234002 single base substitution A G intron_variant LIRI-JP 8 126235289 126235289 single base substitution G T intron_variant LIRI-JP 8 126237782 126237782 single base substitution C A intron_variant LIRI-JP 8 126238394 126238394 single base substitution G T intron_variant LIRI-JP 8 126239705 126239705 single base substitution A G intron_variant LIRI-JP 8 126241425 126241425 single base substitution A G intron_variant LIRI-JP 8 126243294 126243294 single base substitution A G intron_variant LIRI-JP 8 126244907 126244907 single base substitution T G intron_variant LIRI-JP 8 126246762 126246762 single base substitution G T intron_variant LIRI-JP 8 126249633 126249633 single base substitution A G intron_variant LIRI-JP 8 126253134 126253134 single base substitution C A intron_variant LIRI-JP 8 126253168 126253168 single base substitution G C intron_variant LIRI-JP 8 126254326 126254326 single base substitution A G intron_variant LIRI-JP 8 126254931 126254931 insertion of <=200bp - T intron_variant LIRI-JP 8 126255646 126255646 single base substitution A C intron_variant LIRI-JP 8 126262127 126262127 single base substitution A G intron_variant LIRI-JP 8 126262503 126262503 single base substitution G T intron_variant LIRI-JP 8 126262869 126262869 single base substitution A G intron_variant LIRI-JP 8 126265269 126265269 single base substitution A G intron_variant LIRI-JP 8 126265487 126265487 single base substitution G C intron_variant LIRI-JP 8 126266018 126266018 single base substitution C G intron_variant LIRI-JP 8 126266887 126266887 single base substitution G A intron_variant LIRI-JP 8 126267871 126267871 single base substitution G T intron_variant LIRI-JP 8 126272206 126272206 single base substitution T G intron_variant LIRI-JP 8 126274370 126274370 single base substitution T A intron_variant LIRI-JP 8 126274373 126274373 single base substitution A T intron_variant LIRI-JP 8 126275978 126275978 single base substitution C T intron_variant LIRI-JP 8 126278705 126278705 single base substitution A G intron_variant LIRI-JP 8 126280037 126280037 insertion of <=200bp - T intron_variant LIRI-JP 8 126283543 126283543 single base substitution A C intron_variant LIRI-JP 8 126284315 126284315 single base substitution G C intron_variant LIRI-JP 8 126286158 126286158 single base substitution C T intron_variant LIRI-JP 8 126286531 126286531 single base substitution G A intron_variant LIRI-JP 8 126287137 126287137 single base substitution A G intron_variant LIRI-JP 8 126287708 126287708 single base substitution G A intron_variant LIRI-JP 8 126290120 126290120 single base substitution A G intron_variant LIRI-JP 8 126291810 126291810 single base substitution G A intron_variant LIRI-JP 8 126292446 126292446 single base substitution A G intron_variant LIRI-JP 8 126292572 126292572 single base substitution G T intron_variant LIRI-JP 8 126293179 126293179 single base substitution C G intron_variant LIRI-JP 8 126294325 126294325 single base substitution C T intron_variant LIRI-JP 8 126294911 126294911 single base substitution T G intron_variant LIRI-JP 8 126295080 126295080 single base substitution T C intron_variant LIRI-JP 8 126298436 126298436 single base substitution G A intron_variant LIRI-JP 8 126298986 126298986 single base substitution T C intron_variant LIRI-JP 8 126302528 126302528 single base substitution A G intron_variant LIRI-JP 8 126306040 126306040 single base substitution T C intron_variant LIRI-JP 8 126310289 126310289 single base substitution G T intron_variant LIRI-JP 8 126313062 126313062 single base substitution G T intron_variant LIRI-JP 8 126314005 126314005 single base substitution A C intron_variant LIRI-JP 8 126318838 126318838 insertion of <=200bp - A intron_variant LIRI-JP 8 126319154 126319154 single base substitution A C intron_variant LIRI-JP 8 126319613 126319613 single base substitution C G intron_variant LIRI-JP 8 126320038 126320038 single base substitution G A intron_variant LIRI-JP 8 126320372 126320372 single base substitution C T intron_variant LIRI-JP 8 126321036 126321036 single base substitution T C intron_variant LIRI-JP 8 126323893 126323893 single base substitution A G intron_variant LIRI-JP 8 126324160 126324160 single base substitution A G intron_variant LIRI-JP 8 126326779 126326779 single base substitution G T intron_variant LIRI-JP 8 126326878 126326878 insertion of <=200bp - GCCAGG intron_variant LIRI-JP 8 126340478 126340478 single base substitution A G intron_variant LIRI-JP 8 126341145 126341146 deletion of <=200bp GA - intron_variant LIRI-JP 8 126343039 126343039 single base substitution A G intron_variant LIRI-JP 8 126343166 126343166 single base substitution T C intron_variant LIRI-JP 8 126346365 126346365 single base substitution T G intron_variant LIRI-JP 8 126346822 126346822 single base substitution G A intron_variant LIRI-JP 8 126347204 126347204 single base substitution C T intron_variant LIRI-JP 8 126349210 126349210 single base substitution G A intron_variant LIRI-JP 8 126349282 126349282 single base substitution A G intron_variant LIRI-JP 8 126355632 126355632 single base substitution A G intron_variant LIRI-JP 8 126355868 126355868 single base substitution A G intron_variant LIRI-JP 8 126362173 126362173 single base substitution A G intron_variant LIRI-JP 8 126362634 126362634 single base substitution A G intron_variant LIRI-JP 8 126364582 126364582 single base substitution G T intron_variant LIRI-JP 8 126365859 126365859 single base substitution G T intron_variant LIRI-JP 8 126366815 126366815 single base substitution C T intron_variant LIRI-JP 8 126368440 126368440 single base substitution A G intron_variant LIRI-JP 8 126374169 126374169 single base substitution G T downstream_gene_variant LIRI-JP 8 126374169 126374169 single base substitution G T intron_variant LIRI-JP 8 126374169 126374169 single base substitution G T upstream_gene_variant LIRI-JP 8 126374637 126374637 single base substitution C A downstream_gene_variant LIRI-JP 8 126374637 126374637 single base substitution C A intron_variant LIRI-JP 8 126374637 126374637 single base substitution C A upstream_gene_variant LIRI-JP 8 126375398 126375398 single base substitution T C exon_variant LIRI-JP 8 126375398 126375398 single base substitution T C intron_variant LIRI-JP 8 126379036 126379036 single base substitution C A exon_variant LIRI-JP 8 126379036 126379036 single base substitution C A missense_variant T158K 473C>A LIRI-JP 8 126379036 126379036 single base substitution C A missense_variant T218K 653C>A LIRI-JP 8 126383063 126383063 single base substitution G T downstream_gene_variant LIRI-JP 8 126383400 126383400 single base substitution T G downstream_gene_variant LUSC-KR 8 126109555 126109555 single base substitution A T intron_variant LUSC-KR 8 126113446 126113446 single base substitution G T intron_variant LUSC-KR 8 126113446 126113446 single base substitution G T upstream_gene_variant LUSC-KR 8 126120843 126120843 single base substitution A C intron_variant LUSC-KR 8 126121900 126121900 single base substitution A G intron_variant LUSC-KR 8 126123321 126123321 single base substitution A G intron_variant LUSC-KR 8 126135249 126135249 single base substitution G T intron_variant LUSC-KR 8 126135249 126135249 single base substitution G T upstream_gene_variant LUSC-KR 8 126136783 126136783 single base substitution T C intron_variant LUSC-KR 8 126138196 126138196 single base substitution G T intron_variant LUSC-KR 8 126142733 126142733 single base substitution A G intron_variant LUSC-KR 8 126148019 126148019 single base substitution C T intron_variant LUSC-KR 8 126149961 126149961 single base substitution G A intron_variant LUSC-KR 8 126155934 126155934 single base substitution T G intron_variant LUSC-KR 8 126162655 126162655 single base substitution C G intron_variant LUSC-KR 8 126165566 126165566 single base substitution T C downstream_gene_variant LUSC-KR 8 126165566 126165566 single base substitution T C intron_variant LUSC-KR 8 126169516 126169516 single base substitution G T downstream_gene_variant LUSC-KR 8 126169516 126169516 single base substitution G T intron_variant LUSC-KR 8 126170291 126170291 single base substitution A T downstream_gene_variant LUSC-KR 8 126170291 126170291 single base substitution A T intron_variant LUSC-KR 8 126171540 126171540 single base substitution C T downstream_gene_variant LUSC-KR 8 126171540 126171540 single base substitution C T intron_variant LUSC-KR 8 126173658 126173658 single base substitution A T intron_variant LUSC-KR 8 126174353 126174353 single base substitution G T intron_variant LUSC-KR 8 126177621 126177621 single base substitution G T intron_variant LUSC-KR 8 126193300 126193300 single base substitution A T intron_variant LUSC-KR 8 126193583 126193583 single base substitution T A intron_variant LUSC-KR 8 126197099 126197099 single base substitution T C downstream_gene_variant LUSC-KR 8 126197099 126197099 single base substitution T C intron_variant LUSC-KR 8 126198280 126198280 single base substitution G T downstream_gene_variant LUSC-KR 8 126198280 126198280 single base substitution G T intron_variant LUSC-KR 8 126199731 126199731 single base substitution A G downstream_gene_variant LUSC-KR 8 126199731 126199731 single base substitution A G intron_variant LUSC-KR 8 126201450 126201450 single base substitution C T intron_variant LUSC-KR 8 126202807 126202807 single base substitution G T intron_variant LUSC-KR 8 126207789 126207789 single base substitution T C intron_variant LUSC-KR 8 126209745 126209745 single base substitution G T intron_variant LUSC-KR 8 126212455 126212455 single base substitution A T intron_variant LUSC-KR 8 126224007 126224007 single base substitution C T intron_variant LUSC-KR 8 126225768 126225768 single base substitution T C intron_variant LUSC-KR 8 126226014 126226014 single base substitution G A intron_variant LUSC-KR 8 126226554 126226554 single base substitution G T intron_variant LUSC-KR 8 126226696 126226696 single base substitution C G intron_variant LUSC-KR 8 126234043 126234043 single base substitution C T intron_variant LUSC-KR 8 126237187 126237187 single base substitution G T intron_variant LUSC-KR 8 126239654 126239654 single base substitution G A intron_variant LUSC-KR 8 126244329 126244329 single base substitution C T intron_variant LUSC-KR 8 126245286 126245286 single base substitution A T intron_variant LUSC-KR 8 126249169 126249169 single base substitution T C intron_variant LUSC-KR 8 126262165 126262165 single base substitution G A intron_variant LUSC-KR 8 126264131 126264131 single base substitution A G intron_variant LUSC-KR 8 126266920 126266920 single base substitution C G intron_variant LUSC-KR 8 126270213 126270213 single base substitution G C intron_variant LUSC-KR 8 126273411 126273411 single base substitution G T intron_variant LUSC-KR 8 126275093 126275093 single base substitution G A intron_variant LUSC-KR 8 126275305 126275305 single base substitution G A intron_variant LUSC-KR 8 126275819 126275819 single base substitution C G intron_variant LUSC-KR 8 126282032 126282032 single base substitution C T intron_variant LUSC-KR 8 126283280 126283280 single base substitution G A intron_variant LUSC-KR 8 126285889 126285889 single base substitution C A intron_variant LUSC-KR 8 126286462 126286462 single base substitution G C intron_variant LUSC-KR 8 126287626 126287626 single base substitution C T intron_variant LUSC-KR 8 126299405 126299405 single base substitution C G intron_variant LUSC-KR 8 126300778 126300778 single base substitution C G intron_variant LUSC-KR 8 126304999 126304999 single base substitution G C intron_variant LUSC-KR 8 126305658 126305658 single base substitution G A intron_variant LUSC-KR 8 126310955 126310955 single base substitution C T intron_variant LUSC-KR 8 126312031 126312031 single base substitution C G intron_variant LUSC-KR 8 126318341 126318341 single base substitution G T intron_variant LUSC-KR 8 126318680 126318680 single base substitution C G intron_variant LUSC-KR 8 126318927 126318927 single base substitution C G intron_variant LUSC-KR 8 126325357 126325357 single base substitution G A intron_variant LUSC-KR 8 126325381 126325381 single base substitution G A intron_variant LUSC-KR 8 126327033 126327033 single base substitution G C intron_variant LUSC-KR 8 126329457 126329457 single base substitution G A intron_variant LUSC-KR 8 126332497 126332497 single base substitution A G intron_variant LUSC-KR 8 126335441 126335441 single base substitution C G intron_variant LUSC-KR 8 126335482 126335482 single base substitution G A intron_variant LUSC-KR 8 126338949 126338949 single base substitution G T intron_variant LUSC-KR 8 126338996 126338996 single base substitution G C intron_variant LUSC-KR 8 126345162 126345162 single base substitution C T intron_variant LUSC-KR 8 126348572 126348572 single base substitution A T intron_variant LUSC-KR 8 126354539 126354539 single base substitution G T intron_variant LUSC-KR 8 126355416 126355416 single base substitution G A intron_variant LUSC-KR 8 126359918 126359918 single base substitution G C intron_variant LUSC-KR 8 126361543 126361543 single base substitution G T intron_variant LUSC-KR 8 126368726 126368726 single base substitution A T intron_variant LUSC-KR 8 126372522 126372522 single base substitution G T downstream_gene_variant LUSC-KR 8 126372522 126372522 single base substitution G T intron_variant LUSC-KR 8 126372522 126372522 single base substitution G T upstream_gene_variant LUSC-KR 8 126378054 126378054 single base substitution A T intron_variant LUSC-US 8 126369499 126369499 single base substitution G A missense_variant G153R 457G>A LUSC-US 8 126369499 126369499 single base substitution G A missense_variant G93R 277G>A MALY-DE 8 126105630 126105630 single base substitution G A intron_variant MALY-DE 8 126118290 126118291 deletion of <=200bp AC - downstream_gene_variant MALY-DE 8 126118290 126118291 deletion of <=200bp AC - intron_variant MALY-DE 8 126129075 126129075 single base substitution G A intron_variant MALY-DE 8 126136713 126136714 deletion of <=200bp TC - intron_variant MALY-DE 8 126137454 126137454 single base substitution T C intron_variant MALY-DE 8 126149091 126149091 single base substitution A T intron_variant MALY-DE 8 126149110 126149110 single base substitution T G intron_variant MALY-DE 8 126155341 126155342 deletion of <=200bp CA - intron_variant MALY-DE 8 126160920 126160920 single base substitution C A intron_variant MALY-DE 8 126166803 126166803 single base substitution A G downstream_gene_variant MALY-DE 8 126166803 126166803 single base substitution A G intron_variant MALY-DE 8 126175628 126175628 single base substitution C T intron_variant MALY-DE 8 126181684 126181684 single base substitution G A intron_variant MALY-DE 8 126188132 126188132 single base substitution G C intron_variant MALY-DE 8 126193166 126193166 single base substitution A G intron_variant MALY-DE 8 126199494 126199494 single base substitution C T downstream_gene_variant MALY-DE 8 126199494 126199494 single base substitution C T intron_variant MALY-DE 8 126203035 126203035 single base substitution G T intron_variant MALY-DE 8 126204509 126204509 single base substitution T C intron_variant MALY-DE 8 126204558 126204558 single base substitution T C intron_variant MALY-DE 8 126204643 126204643 single base substitution T A intron_variant MALY-DE 8 126214669 126214669 single base substitution A T intron_variant MALY-DE 8 126215045 126215045 single base substitution A C intron_variant MALY-DE 8 126229571 126229571 single base substitution A T intron_variant MALY-DE 8 126243881 126243881 single base substitution C T intron_variant MALY-DE 8 126248902 126248902 deletion of <=200bp C - intron_variant MALY-DE 8 126255527 126255527 single base substitution A C intron_variant MALY-DE 8 126268118 126268118 single base substitution G A intron_variant MALY-DE 8 126284604 126284604 single base substitution C A intron_variant MALY-DE 8 126288429 126288429 single base substitution G T intron_variant MALY-DE 8 126292180 126292180 single base substitution T A intron_variant MALY-DE 8 126301506 126301506 single base substitution T C intron_variant MALY-DE 8 126308304 126308304 deletion of <=200bp A - intron_variant MALY-DE 8 126310954 126310954 single base substitution T C intron_variant MALY-DE 8 126315969 126315969 single base substitution T C intron_variant MALY-DE 8 126320579 126320579 single base substitution A G intron_variant MALY-DE 8 126328822 126328822 single base substitution T C intron_variant MALY-DE 8 126343555 126343555 single base substitution T A intron_variant MALY-DE 8 126352056 126352056 single base substitution A T intron_variant MALY-DE 8 126353249 126353249 single base substitution A G intron_variant MALY-DE 8 126357060 126357060 single base substitution T A intron_variant MALY-DE 8 126362958 126362958 single base substitution A G intron_variant MALY-DE 8 126364840 126364840 single base substitution C A intron_variant MALY-DE 8 126373146 126373146 single base substitution A C downstream_gene_variant MALY-DE 8 126373146 126373146 single base substitution A C intron_variant MALY-DE 8 126373146 126373146 single base substitution A C upstream_gene_variant MALY-DE 8 126379907 126379907 single base substitution T C downstream_gene_variant MELA-AU 8 126099285 126099285 single base substitution G A upstream_gene_variant MELA-AU 8 126099459 126099459 single base substitution A G upstream_gene_variant MELA-AU 8 126100642 126100642 single base substitution G A upstream_gene_variant MELA-AU 8 126100702 126100702 single base substitution G A upstream_gene_variant MELA-AU 8 126101931 126101931 single base substitution C T upstream_gene_variant MELA-AU 8 126103381 126103381 single base substitution T C upstream_gene_variant MELA-AU 8 126104093 126104093 single base substitution G A 5_prime_UTR_variant MELA-AU 8 126104093 126104093 single base substitution G A exon_variant MELA-AU 8 126104093 126104093 single base substitution G A upstream_gene_variant MELA-AU 8 126104452 126104452 single base substitution T G intron_variant MELA-AU 8 126105245 126105245 single base substitution C T intron_variant MELA-AU 8 126105361 126105361 single base substitution A T intron_variant MELA-AU 8 126106001 126106001 single base substitution G A intron_variant MELA-AU 8 126106290 126106290 single base substitution C T intron_variant MELA-AU 8 126107974 126107974 single base substitution T C intron_variant MELA-AU 8 126108011 126108011 single base substitution C T intron_variant MELA-AU 8 126109052 126109052 single base substitution C T intron_variant MELA-AU 8 126109687 126109687 single base substitution G A intron_variant MELA-AU 8 126109687 126109687 single base substitution G A upstream_gene_variant MELA-AU 8 126109833 126109833 insertion of <=200bp - TATG intron_variant MELA-AU 8 126109833 126109833 insertion of <=200bp - TATG upstream_gene_variant MELA-AU 8 126110182 126110182 single base substitution C T intron_variant MELA-AU 8 126110182 126110182 single base substitution C T upstream_gene_variant MELA-AU 8 126111248 126111248 single base substitution G A intron_variant MELA-AU 8 126111248 126111248 single base substitution G A upstream_gene_variant MELA-AU 8 126111526 126111526 single base substitution C T intron_variant MELA-AU 8 126111526 126111526 single base substitution C T upstream_gene_variant MELA-AU 8 126112305 126112305 single base substitution T A intron_variant MELA-AU 8 126112305 126112305 single base substitution T A upstream_gene_variant MELA-AU 8 126112719 126112719 single base substitution C T intron_variant MELA-AU 8 126112719 126112719 single base substitution C T upstream_gene_variant MELA-AU 8 126112786 126112786 single base substitution G A intron_variant MELA-AU 8 126112786 126112786 single base substitution G A upstream_gene_variant MELA-AU 8 126113459 126113459 single base substitution G A intron_variant MELA-AU 8 126113459 126113459 single base substitution G A upstream_gene_variant MELA-AU 8 126113542 126113542 single base substitution G A intron_variant MELA-AU 8 126113542 126113542 single base substitution G A upstream_gene_variant MELA-AU 8 126113942 126113942 single base substitution A T intron_variant MELA-AU 8 126113942 126113942 single base substitution A T upstream_gene_variant MELA-AU 8 126114109 126114109 single base substitution G A intron_variant MELA-AU 8 126114109 126114109 single base substitution G A upstream_gene_variant MELA-AU 8 126114304 126114304 single base substitution C T 5_prime_UTR_variant MELA-AU 8 126114304 126114304 single base substitution C T exon_variant MELA-AU 8 126114304 126114304 single base substitution C T intron_variant MELA-AU 8 126114304 126114304 single base substitution C T upstream_gene_variant MELA-AU 8 126115915 126115915 single base substitution C T downstream_gene_variant MELA-AU 8 126115915 126115915 single base substitution C T intron_variant MELA-AU 8 126116716 126116716 single base substitution C T downstream_gene_variant MELA-AU 8 126116716 126116716 single base substitution C T intron_variant MELA-AU 8 126116780 126116780 single base substitution C T downstream_gene_variant MELA-AU 8 126116780 126116780 single base substitution C T intron_variant MELA-AU 8 126117095 126117095 single base substitution C T downstream_gene_variant MELA-AU 8 126117095 126117095 single base substitution C T intron_variant MELA-AU 8 126117442 126117442 single base substitution C T downstream_gene_variant MELA-AU 8 126117442 126117442 single base substitution C T intron_variant MELA-AU 8 126118014 126118014 single base substitution C A downstream_gene_variant MELA-AU 8 126118014 126118014 single base substitution C A intron_variant MELA-AU 8 126118266 126118266 single base substitution G A downstream_gene_variant MELA-AU 8 126118266 126118266 single base substitution G A intron_variant MELA-AU 8 126118590 126118590 single base substitution G A downstream_gene_variant MELA-AU 8 126118590 126118590 single base substitution G A intron_variant MELA-AU 8 126120308 126120308 single base substitution A T intron_variant MELA-AU 8 126120380 126120380 single base substitution C T intron_variant MELA-AU 8 126120403 126120403 single base substitution A G intron_variant MELA-AU 8 126120470 126120470 single base substitution G A intron_variant MELA-AU 8 126121166 126121166 single base substitution C T intron_variant MELA-AU 8 126121376 126121376 single base substitution C T intron_variant MELA-AU 8 126121785 126121785 single base substitution G A intron_variant MELA-AU 8 126122568 126122568 single base substitution C T intron_variant MELA-AU 8 126124151 126124151 single base substitution C T intron_variant MELA-AU 8 126124925 126124925 single base substitution A T intron_variant MELA-AU 8 126125404 126125404 single base substitution C T intron_variant MELA-AU 8 126126899 126126899 single base substitution C T intron_variant MELA-AU 8 126127248 126127248 single base substitution C T intron_variant MELA-AU 8 126127962 126127962 single base substitution C T intron_variant MELA-AU 8 126128248 126128248 single base substitution A G intron_variant MELA-AU 8 126128775 126128775 single base substitution T C intron_variant MELA-AU 8 126129413 126129414 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 126130511 126130511 single base substitution C T intron_variant MELA-AU 8 126132579 126132597 deletion of <=200bp TCGGTAAAACGAGTTATTA - intron_variant MELA-AU 8 126132579 126132597 deletion of <=200bp TCGGTAAAACGAGTTATTA - upstream_gene_variant MELA-AU 8 126133629 126133629 single base substitution A G intron_variant MELA-AU 8 126133629 126133629 single base substitution A G upstream_gene_variant MELA-AU 8 126134095 126134095 single base substitution T C intron_variant MELA-AU 8 126134095 126134095 single base substitution T C upstream_gene_variant MELA-AU 8 126134364 126134364 single base substitution C T intron_variant MELA-AU 8 126134364 126134364 single base substitution C T upstream_gene_variant MELA-AU 8 126135292 126135292 single base substitution C T intron_variant MELA-AU 8 126135292 126135292 single base substitution C T upstream_gene_variant MELA-AU 8 126135903 126135903 single base substitution C T intron_variant MELA-AU 8 126135903 126135903 single base substitution C T upstream_gene_variant MELA-AU 8 126137385 126137385 single base substitution C T intron_variant MELA-AU 8 126137552 126137552 single base substitution C T intron_variant MELA-AU 8 126137660 126137660 single base substitution G A intron_variant MELA-AU 8 126137694 126137694 single base substitution G A intron_variant MELA-AU 8 126137795 126137795 single base substitution T G intron_variant MELA-AU 8 126137872 126137872 single base substitution T A intron_variant MELA-AU 8 126137894 126137894 single base substitution C T intron_variant MELA-AU 8 126138196 126138196 single base substitution G A intron_variant MELA-AU 8 126138940 126138940 single base substitution T C intron_variant MELA-AU 8 126140021 126140021 single base substitution C T intron_variant MELA-AU 8 126140450 126140450 single base substitution G A intron_variant MELA-AU 8 126141181 126141181 single base substitution C T intron_variant MELA-AU 8 126141816 126141816 single base substitution G C intron_variant MELA-AU 8 126142761 126142761 single base substitution C T intron_variant MELA-AU 8 126143291 126143291 single base substitution C T intron_variant MELA-AU 8 126144538 126144538 single base substitution C T intron_variant MELA-AU 8 126144570 126144570 single base substitution C T intron_variant MELA-AU 8 126145785 126145785 single base substitution C T intron_variant MELA-AU 8 126145868 126145868 single base substitution C T intron_variant MELA-AU 8 126147084 126147084 single base substitution C T intron_variant MELA-AU 8 126147272 126147273 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 126147619 126147619 single base substitution G A intron_variant MELA-AU 8 126148132 126148132 single base substitution C T intron_variant MELA-AU 8 126148978 126148978 single base substitution G A intron_variant MELA-AU 8 126148995 126148995 single base substitution G C intron_variant MELA-AU 8 126150694 126150694 single base substitution C T intron_variant MELA-AU 8 126151708 126151708 single base substitution G A intron_variant MELA-AU 8 126152623 126152623 single base substitution G A intron_variant MELA-AU 8 126152659 126152659 single base substitution C T intron_variant MELA-AU 8 126153278 126153278 single base substitution C T intron_variant MELA-AU 8 126156685 126156685 single base substitution A G intron_variant MELA-AU 8 126157397 126157397 single base substitution G A intron_variant MELA-AU 8 126157780 126157780 single base substitution C A intron_variant MELA-AU 8 126157786 126157786 single base substitution G A intron_variant MELA-AU 8 126158266 126158266 single base substitution C T intron_variant MELA-AU 8 126158308 126158308 single base substitution C T intron_variant MELA-AU 8 126159466 126159466 single base substitution A T intron_variant MELA-AU 8 126160413 126160413 single base substitution C T intron_variant MELA-AU 8 126161496 126161496 single base substitution G A intron_variant MELA-AU 8 126162066 126162066 single base substitution G A intron_variant MELA-AU 8 126162196 126162196 single base substitution C T intron_variant MELA-AU 8 126162388 126162388 single base substitution C T intron_variant MELA-AU 8 126163109 126163109 single base substitution C T intron_variant MELA-AU 8 126163873 126163873 single base substitution G T downstream_gene_variant MELA-AU 8 126163873 126163873 single base substitution G T intron_variant MELA-AU 8 126163974 126163974 single base substitution C T downstream_gene_variant MELA-AU 8 126163974 126163974 single base substitution C T intron_variant MELA-AU 8 126164073 126164073 single base substitution C T downstream_gene_variant MELA-AU 8 126164073 126164073 single base substitution C T intron_variant MELA-AU 8 126164645 126164645 single base substitution C T downstream_gene_variant MELA-AU 8 126164645 126164645 single base substitution C T intron_variant MELA-AU 8 126166553 126166553 single base substitution C T downstream_gene_variant MELA-AU 8 126166553 126166553 single base substitution C T intron_variant MELA-AU 8 126166663 126166664 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 126166663 126166664 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 126166781 126166781 single base substitution C T downstream_gene_variant MELA-AU 8 126166781 126166781 single base substitution C T intron_variant MELA-AU 8 126166876 126166876 single base substitution T C downstream_gene_variant MELA-AU 8 126166876 126166876 single base substitution T C intron_variant MELA-AU 8 126166923 126166923 single base substitution G A downstream_gene_variant MELA-AU 8 126166923 126166923 single base substitution G A intron_variant MELA-AU 8 126167495 126167495 single base substitution C T downstream_gene_variant MELA-AU 8 126167495 126167495 single base substitution C T intron_variant MELA-AU 8 126167691 126167691 single base substitution T G downstream_gene_variant MELA-AU 8 126167691 126167691 single base substitution T G intron_variant MELA-AU 8 126167756 126167756 single base substitution G A downstream_gene_variant MELA-AU 8 126167756 126167756 single base substitution G A intron_variant MELA-AU 8 126168963 126168963 single base substitution G A downstream_gene_variant MELA-AU 8 126168963 126168963 single base substitution G A intron_variant MELA-AU 8 126169386 126169386 single base substitution C T downstream_gene_variant MELA-AU 8 126169386 126169386 single base substitution C T intron_variant MELA-AU 8 126170370 126170370 single base substitution G A downstream_gene_variant MELA-AU 8 126170370 126170370 single base substitution G A intron_variant MELA-AU 8 126172639 126172639 single base substitution G A downstream_gene_variant MELA-AU 8 126172639 126172639 single base substitution G A intron_variant MELA-AU 8 126173396 126173396 single base substitution G A downstream_gene_variant MELA-AU 8 126173396 126173396 single base substitution G A intron_variant MELA-AU 8 126174644 126174644 single base substitution C T intron_variant MELA-AU 8 126177277 126177277 single base substitution G C intron_variant MELA-AU 8 126177323 126177323 single base substitution C T intron_variant MELA-AU 8 126179359 126179359 single base substitution C T intron_variant MELA-AU 8 126179831 126179831 single base substitution C T intron_variant MELA-AU 8 126181507 126181508 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 126182734 126182734 single base substitution C T intron_variant MELA-AU 8 126182983 126182983 single base substitution G A intron_variant MELA-AU 8 126183980 126183980 single base substitution C T intron_variant MELA-AU 8 126184420 126184420 single base substitution C T intron_variant MELA-AU 8 126184667 126184667 single base substitution C T intron_variant MELA-AU 8 126184717 126184717 single base substitution C T intron_variant MELA-AU 8 126185855 126185855 single base substitution G T intron_variant MELA-AU 8 126186720 126186720 single base substitution C T intron_variant MELA-AU 8 126189172 126189172 single base substitution C G intron_variant MELA-AU 8 126189680 126189680 single base substitution T A intron_variant MELA-AU 8 126189957 126189957 single base substitution C T intron_variant MELA-AU 8 126190114 126190114 single base substitution A G intron_variant MELA-AU 8 126190908 126190908 single base substitution C T intron_variant MELA-AU 8 126190918 126190918 single base substitution C T intron_variant MELA-AU 8 126191526 126191526 single base substitution A G intron_variant MELA-AU 8 126191671 126191671 single base substitution C T intron_variant MELA-AU 8 126192019 126192020 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 126193443 126193443 single base substitution C T intron_variant MELA-AU 8 126195180 126195180 single base substitution C T downstream_gene_variant MELA-AU 8 126195180 126195180 single base substitution C T intron_variant MELA-AU 8 126196007 126196007 single base substitution G A downstream_gene_variant MELA-AU 8 126196007 126196007 single base substitution G A intron_variant MELA-AU 8 126196473 126196473 single base substitution T G downstream_gene_variant MELA-AU 8 126196473 126196473 single base substitution T G intron_variant MELA-AU 8 126196724 126196724 single base substitution C T downstream_gene_variant MELA-AU 8 126196724 126196724 single base substitution C T intron_variant MELA-AU 8 126196786 126196786 single base substitution C T downstream_gene_variant MELA-AU 8 126196786 126196786 single base substitution C T intron_variant MELA-AU 8 126197415 126197415 single base substitution C T downstream_gene_variant MELA-AU 8 126197415 126197415 single base substitution C T intron_variant MELA-AU 8 126199494 126199494 single base substitution C T downstream_gene_variant MELA-AU 8 126199494 126199494 single base substitution C T intron_variant MELA-AU 8 126199576 126199576 single base substitution G A downstream_gene_variant MELA-AU 8 126199576 126199576 single base substitution G A intron_variant MELA-AU 8 126199935 126199935 single base substitution T C intron_variant MELA-AU 8 126200880 126200880 deletion of <=200bp T - intron_variant MELA-AU 8 126201551 126201551 single base substitution C T intron_variant MELA-AU 8 126201660 126201660 single base substitution T C intron_variant MELA-AU 8 126201886 126201886 single base substitution C T intron_variant MELA-AU 8 126202021 126202021 single base substitution A G intron_variant MELA-AU 8 126202335 126202335 single base substitution G A intron_variant MELA-AU 8 126202344 126202344 single base substitution C T intron_variant MELA-AU 8 126202816 126202816 single base substitution C T intron_variant MELA-AU 8 126203463 126203463 single base substitution C T intron_variant MELA-AU 8 126203616 126203616 single base substitution C T intron_variant MELA-AU 8 126205642 126205642 single base substitution G A intron_variant MELA-AU 8 126206503 126206503 single base substitution C T intron_variant MELA-AU 8 126206763 126206763 single base substitution C T intron_variant MELA-AU 8 126206795 126206795 single base substitution G A intron_variant MELA-AU 8 126207087 126207087 single base substitution A T intron_variant MELA-AU 8 126207204 126207204 single base substitution C T intron_variant MELA-AU 8 126208574 126208574 single base substitution C T intron_variant MELA-AU 8 126208780 126208780 single base substitution C T intron_variant MELA-AU 8 126208878 126208878 single base substitution A T intron_variant MELA-AU 8 126209015 126209015 single base substitution C T intron_variant MELA-AU 8 126209248 126209248 single base substitution G T intron_variant MELA-AU 8 126209551 126209551 single base substitution T C intron_variant MELA-AU 8 126209712 126209712 single base substitution C T intron_variant MELA-AU 8 126210664 126210664 single base substitution C T intron_variant MELA-AU 8 126211142 126211142 single base substitution C T intron_variant MELA-AU 8 126211235 126211235 single base substitution C T intron_variant MELA-AU 8 126211247 126211247 single base substitution T C intron_variant MELA-AU 8 126211671 126211671 single base substitution C T intron_variant MELA-AU 8 126212030 126212030 single base substitution C T intron_variant MELA-AU 8 126212049 126212049 single base substitution G A intron_variant MELA-AU 8 126212222 126212222 single base substitution G A intron_variant MELA-AU 8 126212284 126212284 single base substitution C T intron_variant MELA-AU 8 126212511 126212511 single base substitution C T intron_variant MELA-AU 8 126212582 126212582 single base substitution C T intron_variant MELA-AU 8 126212666 126212666 single base substitution C T intron_variant MELA-AU 8 126212855 126212855 single base substitution C T intron_variant MELA-AU 8 126212911 126212911 single base substitution G A intron_variant MELA-AU 8 126213512 126213512 single base substitution C T intron_variant MELA-AU 8 126213534 126213534 single base substitution C T intron_variant MELA-AU 8 126213792 126213792 single base substitution C T intron_variant MELA-AU 8 126213923 126213923 single base substitution C T intron_variant MELA-AU 8 126213962 126213962 single base substitution C T intron_variant MELA-AU 8 126214131 126214131 single base substitution C T intron_variant MELA-AU 8 126214371 126214371 single base substitution C G intron_variant MELA-AU 8 126214944 126214944 single base substitution T C intron_variant MELA-AU 8 126215131 126215131 single base substitution G A intron_variant MELA-AU 8 126215529 126215555 deletion of <=200bp CCTGTCAACCTGTTTGCCAGATTATAG - intron_variant MELA-AU 8 126215790 126215790 single base substitution G C intron_variant MELA-AU 8 126216046 126216046 single base substitution T C intron_variant MELA-AU 8 126216284 126216284 single base substitution C T intron_variant MELA-AU 8 126217278 126217278 single base substitution C T intron_variant MELA-AU 8 126217612 126217612 single base substitution C T intron_variant MELA-AU 8 126217857 126217857 single base substitution C T intron_variant MELA-AU 8 126218724 126218724 single base substitution A G intron_variant MELA-AU 8 126220789 126220789 single base substitution A G intron_variant MELA-AU 8 126221089 126221089 single base substitution C A intron_variant MELA-AU 8 126221896 126221896 single base substitution A T intron_variant MELA-AU 8 126222990 126222990 single base substitution C T intron_variant MELA-AU 8 126224596 126224596 single base substitution C T intron_variant MELA-AU 8 126225903 126225903 single base substitution C T intron_variant MELA-AU 8 126226963 126226963 single base substitution G A intron_variant MELA-AU 8 126228151 126228151 single base substitution C T intron_variant MELA-AU 8 126228422 126228422 single base substitution C T intron_variant MELA-AU 8 126228629 126228629 single base substitution C T intron_variant MELA-AU 8 126229072 126229074 multiple base substitution (>=2bp and <=200bp) GGG AAA intron_variant MELA-AU 8 126229093 126229093 single base substitution A C intron_variant MELA-AU 8 126229240 126229240 single base substitution G A intron_variant MELA-AU 8 126229586 126229586 single base substitution T C intron_variant MELA-AU 8 126229862 126229863 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 126230148 126230148 single base substitution C T intron_variant MELA-AU 8 126230578 126230578 single base substitution C T intron_variant MELA-AU 8 126230806 126230806 single base substitution A T intron_variant MELA-AU 8 126232488 126232488 single base substitution G A intron_variant MELA-AU 8 126233219 126233219 single base substitution G A intron_variant MELA-AU 8 126234597 126234597 single base substitution C T intron_variant MELA-AU 8 126234965 126234965 single base substitution C T intron_variant MELA-AU 8 126235263 126235263 single base substitution C T intron_variant MELA-AU 8 126235598 126235598 single base substitution C T intron_variant MELA-AU 8 126235828 126235829 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 126235955 126235955 single base substitution C T intron_variant MELA-AU 8 126236201 126236201 single base substitution C T intron_variant MELA-AU 8 126236511 126236511 single base substitution C T intron_variant MELA-AU 8 126236631 126236631 single base substitution C T intron_variant MELA-AU 8 126236892 126236892 single base substitution C T intron_variant MELA-AU 8 126238066 126238066 single base substitution C T intron_variant MELA-AU 8 126240551 126240551 single base substitution C T intron_variant MELA-AU 8 126241039 126241039 single base substitution C T intron_variant MELA-AU 8 126241041 126241041 single base substitution C T intron_variant MELA-AU 8 126241192 126241192 single base substitution C T intron_variant MELA-AU 8 126241328 126241328 single base substitution G A intron_variant MELA-AU 8 126241653 126241653 single base substitution C T intron_variant MELA-AU 8 126241654 126241654 single base substitution C T intron_variant MELA-AU 8 126241800 126241800 single base substitution C T intron_variant MELA-AU 8 126242120 126242120 single base substitution G A intron_variant MELA-AU 8 126243537 126243537 single base substitution A G intron_variant MELA-AU 8 126244487 126244487 single base substitution C A intron_variant MELA-AU 8 126245002 126245002 single base substitution C T intron_variant MELA-AU 8 126245486 126245486 deletion of <=200bp A - intron_variant MELA-AU 8 126245510 126245510 single base substitution C T intron_variant MELA-AU 8 126245695 126245695 single base substitution C T intron_variant MELA-AU 8 126246639 126246639 single base substitution A T intron_variant MELA-AU 8 126246663 126246663 single base substitution C T intron_variant MELA-AU 8 126247098 126247098 single base substitution C T intron_variant MELA-AU 8 126247123 126247123 single base substitution C T intron_variant MELA-AU 8 126247776 126247776 single base substitution A G intron_variant MELA-AU 8 126248632 126248632 single base substitution C T intron_variant MELA-AU 8 126248878 126248879 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 126249499 126249499 single base substitution G A intron_variant MELA-AU 8 126249859 126249859 single base substitution C T intron_variant MELA-AU 8 126250095 126250095 single base substitution C T intron_variant MELA-AU 8 126250544 126250544 single base substitution A G intron_variant MELA-AU 8 126250571 126250571 single base substitution C T intron_variant MELA-AU 8 126251186 126251186 single base substitution T A intron_variant MELA-AU 8 126251595 126251595 single base substitution A G intron_variant MELA-AU 8 126251657 126251657 single base substitution C T intron_variant MELA-AU 8 126253239 126253239 single base substitution C T intron_variant MELA-AU 8 126253245 126253245 single base substitution C T intron_variant MELA-AU 8 126254023 126254023 single base substitution C T intron_variant MELA-AU 8 126254239 126254239 single base substitution C T intron_variant MELA-AU 8 126255256 126255256 single base substitution A G intron_variant MELA-AU 8 126255743 126255743 single base substitution T A intron_variant MELA-AU 8 126255815 126255815 single base substitution C T intron_variant MELA-AU 8 126256516 126256516 single base substitution C T intron_variant MELA-AU 8 126256812 126256812 single base substitution G A intron_variant MELA-AU 8 126257153 126257155 multiple base substitution (>=2bp and <=200bp) TAC CTT intron_variant MELA-AU 8 126258285 126258285 single base substitution G T intron_variant MELA-AU 8 126258338 126258338 single base substitution T C intron_variant MELA-AU 8 126258393 126258393 single base substitution T G intron_variant MELA-AU 8 126259492 126259492 single base substitution C T intron_variant MELA-AU 8 126260059 126260059 single base substitution G A intron_variant MELA-AU 8 126262880 126262880 single base substitution C T intron_variant MELA-AU 8 126263094 126263094 single base substitution C T intron_variant MELA-AU 8 126263568 126263568 single base substitution A G intron_variant MELA-AU 8 126264177 126264177 single base substitution G A intron_variant MELA-AU 8 126265147 126265147 single base substitution A G intron_variant MELA-AU 8 126265790 126265790 single base substitution G C intron_variant MELA-AU 8 126265982 126265982 single base substitution C T intron_variant MELA-AU 8 126266078 126266078 single base substitution C T intron_variant MELA-AU 8 126266237 126266237 single base substitution G A intron_variant MELA-AU 8 126267422 126267422 single base substitution C T intron_variant MELA-AU 8 126267651 126267651 single base substitution C T intron_variant MELA-AU 8 126268032 126268032 single base substitution T C intron_variant MELA-AU 8 126268493 126268493 single base substitution C T intron_variant MELA-AU 8 126269230 126269230 single base substitution C T intron_variant MELA-AU 8 126269255 126269256 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 126269520 126269520 single base substitution C T intron_variant MELA-AU 8 126270003 126270003 single base substitution C T intron_variant MELA-AU 8 126270978 126270978 deletion of <=200bp G - intron_variant MELA-AU 8 126271342 126271342 single base substitution C T intron_variant MELA-AU 8 126271535 126271535 single base substitution C T intron_variant MELA-AU 8 126271833 126271833 single base substitution G A intron_variant MELA-AU 8 126272063 126272063 single base substitution C T intron_variant MELA-AU 8 126272331 126272331 single base substitution A G intron_variant MELA-AU 8 126272726 126272726 single base substitution C T intron_variant MELA-AU 8 126272871 126272871 insertion of <=200bp - TTATTTTC intron_variant MELA-AU 8 126273182 126273182 single base substitution G A intron_variant MELA-AU 8 126273540 126273540 single base substitution A G intron_variant MELA-AU 8 126274370 126274370 single base substitution T A intron_variant MELA-AU 8 126274699 126274699 single base substitution T G intron_variant MELA-AU 8 126274767 126274767 single base substitution C T intron_variant MELA-AU 8 126275327 126275327 single base substitution C T intron_variant MELA-AU 8 126275557 126275557 single base substitution G A intron_variant MELA-AU 8 126276100 126276100 single base substitution G A intron_variant MELA-AU 8 126276356 126276356 single base substitution C T intron_variant MELA-AU 8 126276783 126276783 single base substitution G A intron_variant MELA-AU 8 126277176 126277176 single base substitution A C intron_variant MELA-AU 8 126277493 126277493 single base substitution C T intron_variant MELA-AU 8 126278102 126278102 single base substitution A G intron_variant MELA-AU 8 126278231 126278231 single base substitution T A intron_variant MELA-AU 8 126279287 126279288 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 126279343 126279343 single base substitution T C intron_variant MELA-AU 8 126279356 126279356 single base substitution C T intron_variant MELA-AU 8 126279393 126279393 single base substitution G T intron_variant MELA-AU 8 126279443 126279443 single base substitution T C intron_variant MELA-AU 8 126279973 126279973 single base substitution C T intron_variant MELA-AU 8 126280031 126280031 single base substitution C T intron_variant MELA-AU 8 126280250 126280250 single base substitution C T intron_variant MELA-AU 8 126280601 126280601 single base substitution C T intron_variant MELA-AU 8 126280728 126280728 single base substitution G A intron_variant MELA-AU 8 126280738 126280738 single base substitution G C intron_variant MELA-AU 8 126281304 126281304 single base substitution A G intron_variant MELA-AU 8 126281358 126281358 single base substitution C T intron_variant MELA-AU 8 126281736 126281736 single base substitution A G intron_variant MELA-AU 8 126282228 126282228 single base substitution T C intron_variant MELA-AU 8 126282318 126282318 single base substitution G A intron_variant MELA-AU 8 126282398 126282398 single base substitution C T intron_variant MELA-AU 8 126282748 126282748 single base substitution T C intron_variant MELA-AU 8 126282820 126282821 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 126283272 126283273 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 126284959 126284960 multiple base substitution (>=2bp and <=200bp) AT TA intron_variant MELA-AU 8 126284972 126284972 single base substitution C T intron_variant MELA-AU 8 126284982 126284982 single base substitution C T intron_variant MELA-AU 8 126285100 126285100 single base substitution T C intron_variant MELA-AU 8 126285524 126285524 single base substitution C T intron_variant MELA-AU 8 126285721 126285721 single base substitution C T intron_variant MELA-AU 8 126285726 126285726 single base substitution C T intron_variant MELA-AU 8 126286097 126286097 single base substitution G A intron_variant MELA-AU 8 126286573 126286573 single base substitution C T intron_variant MELA-AU 8 126286783 126286783 single base substitution G A intron_variant MELA-AU 8 126286861 126286861 single base substitution G A intron_variant MELA-AU 8 126287699 126287699 single base substitution G A intron_variant MELA-AU 8 126289065 126289065 single base substitution C T intron_variant MELA-AU 8 126290160 126290160 single base substitution G C intron_variant MELA-AU 8 126290475 126290475 single base substitution C T intron_variant MELA-AU 8 126291851 126291851 single base substitution A G intron_variant MELA-AU 8 126293262 126293262 single base substitution C T intron_variant MELA-AU 8 126293702 126293702 single base substitution G C intron_variant MELA-AU 8 126294002 126294002 single base substitution T A intron_variant MELA-AU 8 126294080 126294080 single base substitution C T intron_variant MELA-AU 8 126295551 126295551 single base substitution G T intron_variant MELA-AU 8 126295593 126295593 single base substitution C T intron_variant MELA-AU 8 126295616 126295616 single base substitution C T intron_variant MELA-AU 8 126295764 126295764 single base substitution A T intron_variant MELA-AU 8 126296494 126296494 single base substitution C A intron_variant MELA-AU 8 126296898 126296898 single base substitution T A intron_variant MELA-AU 8 126297998 126297998 single base substitution G A intron_variant MELA-AU 8 126298346 126298346 single base substitution C T intron_variant MELA-AU 8 126300431 126300431 single base substitution C T intron_variant MELA-AU 8 126301147 126301147 single base substitution C T intron_variant MELA-AU 8 126301477 126301477 single base substitution G A intron_variant MELA-AU 8 126305066 126305066 single base substitution C T intron_variant MELA-AU 8 126305077 126305077 single base substitution A C intron_variant MELA-AU 8 126306352 126306352 single base substitution T G intron_variant MELA-AU 8 126306629 126306629 single base substitution C T intron_variant MELA-AU 8 126307122 126307122 single base substitution T A intron_variant MELA-AU 8 126307557 126307557 single base substitution T C intron_variant MELA-AU 8 126308481 126308481 single base substitution C T intron_variant MELA-AU 8 126308705 126308705 single base substitution C T intron_variant MELA-AU 8 126308816 126308816 single base substitution T G intron_variant MELA-AU 8 126308907 126308907 single base substitution G A intron_variant MELA-AU 8 126309608 126309608 single base substitution C T intron_variant MELA-AU 8 126309661 126309661 single base substitution C T intron_variant MELA-AU 8 126310399 126310399 single base substitution G A intron_variant MELA-AU 8 126311336 126311337 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 126311651 126311651 single base substitution A C intron_variant MELA-AU 8 126311726 126311726 single base substitution A C intron_variant MELA-AU 8 126312129 126312129 single base substitution C T intron_variant MELA-AU 8 126313348 126313348 single base substitution C T intron_variant MELA-AU 8 126313805 126313806 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 126313928 126313928 single base substitution C G intron_variant MELA-AU 8 126314013 126314014 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 8 126314291 126314291 single base substitution C T intron_variant MELA-AU 8 126314323 126314323 single base substitution C T intron_variant MELA-AU 8 126315914 126315914 single base substitution C T intron_variant MELA-AU 8 126316630 126316630 single base substitution C T intron_variant MELA-AU 8 126316834 126316834 single base substitution C T intron_variant MELA-AU 8 126318899 126318899 single base substitution T C intron_variant MELA-AU 8 126320957 126320957 single base substitution C T intron_variant MELA-AU 8 126321557 126321557 single base substitution A G intron_variant MELA-AU 8 126321814 126321814 single base substitution A C intron_variant MELA-AU 8 126321850 126321851 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 126322502 126322502 single base substitution C T intron_variant MELA-AU 8 126322575 126322575 single base substitution C T intron_variant MELA-AU 8 126322597 126322597 single base substitution G A intron_variant MELA-AU 8 126323464 126323464 single base substitution G A intron_variant MELA-AU 8 126323528 126323529 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 126323611 126323611 single base substitution C T intron_variant MELA-AU 8 126323630 126323630 single base substitution C T intron_variant MELA-AU 8 126323820 126323820 single base substitution C T intron_variant MELA-AU 8 126324402 126324403 multiple base substitution (>=2bp and <=200bp) AC GA intron_variant MELA-AU 8 126325482 126325482 single base substitution G A intron_variant MELA-AU 8 126325589 126325589 single base substitution C T intron_variant MELA-AU 8 126325920 126325920 single base substitution T C intron_variant MELA-AU 8 126327025 126327025 single base substitution C T intron_variant MELA-AU 8 126327512 126327513 multiple base substitution (>=2bp and <=200bp) CC AA intron_variant MELA-AU 8 126328506 126328506 single base substitution G A intron_variant MELA-AU 8 126329004 126329004 single base substitution T C intron_variant MELA-AU 8 126329284 126329284 single base substitution C T intron_variant MELA-AU 8 126329365 126329365 single base substitution C T intron_variant MELA-AU 8 126329791 126329791 single base substitution T G intron_variant MELA-AU 8 126329842 126329842 single base substitution T G intron_variant MELA-AU 8 126329934 126329934 single base substitution G A intron_variant MELA-AU 8 126330618 126330619 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 126331522 126331522 single base substitution G A intron_variant MELA-AU 8 126333098 126333098 single base substitution A C intron_variant MELA-AU 8 126333450 126333450 single base substitution G A intron_variant MELA-AU 8 126334868 126334868 single base substitution A G intron_variant MELA-AU 8 126335528 126335528 single base substitution G A intron_variant MELA-AU 8 126335554 126335554 single base substitution C T intron_variant MELA-AU 8 126335711 126335711 single base substitution G A intron_variant MELA-AU 8 126336183 126336183 single base substitution C T intron_variant MELA-AU 8 126336534 126336534 single base substitution C T intron_variant MELA-AU 8 126337433 126337433 single base substitution G A intron_variant MELA-AU 8 126337541 126337541 single base substitution A G intron_variant MELA-AU 8 126337834 126337834 single base substitution C T intron_variant MELA-AU 8 126338069 126338069 single base substitution C T intron_variant MELA-AU 8 126339190 126339190 single base substitution C G intron_variant MELA-AU 8 126339840 126339840 single base substitution G A intron_variant MELA-AU 8 126339921 126339922 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 126341328 126341328 single base substitution G A intron_variant MELA-AU 8 126341332 126341332 single base substitution C T intron_variant MELA-AU 8 126341446 126341446 single base substitution C T intron_variant MELA-AU 8 126341566 126341566 single base substitution C T intron_variant MELA-AU 8 126341666 126341666 single base substitution T A intron_variant MELA-AU 8 126341697 126341697 single base substitution C T intron_variant MELA-AU 8 126342389 126342389 single base substitution G A intron_variant MELA-AU 8 126343065 126343065 single base substitution C T intron_variant MELA-AU 8 126344963 126344963 single base substitution C T intron_variant MELA-AU 8 126345156 126345157 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 126345303 126345303 single base substitution C T intron_variant MELA-AU 8 126345350 126345351 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 8 126345442 126345442 single base substitution C T intron_variant MELA-AU 8 126345508 126345508 single base substitution C T intron_variant MELA-AU 8 126345649 126345649 single base substitution A T intron_variant MELA-AU 8 126346088 126346088 single base substitution C T intron_variant MELA-AU 8 126346244 126346244 single base substitution C T intron_variant MELA-AU 8 126347616 126347616 single base substitution C T intron_variant MELA-AU 8 126347849 126347849 single base substitution C T intron_variant MELA-AU 8 126348629 126348629 single base substitution C T intron_variant MELA-AU 8 126350073 126350073 single base substitution G A intron_variant MELA-AU 8 126350074 126350074 single base substitution T C intron_variant MELA-AU 8 126350650 126350650 single base substitution C T intron_variant MELA-AU 8 126350792 126350792 single base substitution C T intron_variant MELA-AU 8 126351040 126351040 single base substitution T G intron_variant MELA-AU 8 126351508 126351508 single base substitution C T intron_variant MELA-AU 8 126351776 126351776 single base substitution G A intron_variant MELA-AU 8 126352521 126352521 single base substitution C T intron_variant MELA-AU 8 126352659 126352659 single base substitution C T intron_variant MELA-AU 8 126353769 126353769 single base substitution T A intron_variant MELA-AU 8 126353928 126353928 single base substitution C T intron_variant MELA-AU 8 126354290 126354290 single base substitution G A intron_variant MELA-AU 8 126355808 126355808 single base substitution G A intron_variant MELA-AU 8 126356130 126356130 single base substitution C T intron_variant MELA-AU 8 126356204 126356204 single base substitution C T intron_variant MELA-AU 8 126356862 126356862 single base substitution G C intron_variant MELA-AU 8 126356867 126356867 single base substitution C T intron_variant MELA-AU 8 126357217 126357217 single base substitution T G intron_variant MELA-AU 8 126357305 126357305 single base substitution C T intron_variant MELA-AU 8 126357610 126357610 single base substitution A G intron_variant MELA-AU 8 126358371 126358372 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 126358835 126358835 single base substitution G A intron_variant MELA-AU 8 126360137 126360137 single base substitution G A intron_variant MELA-AU 8 126360344 126360344 single base substitution G A intron_variant MELA-AU 8 126360977 126360977 single base substitution C T intron_variant MELA-AU 8 126361856 126361856 single base substitution G T intron_variant MELA-AU 8 126362126 126362126 single base substitution C A intron_variant MELA-AU 8 126362517 126362517 single base substitution C T intron_variant MELA-AU 8 126362915 126362915 single base substitution C T intron_variant MELA-AU 8 126363632 126363632 single base substitution C T intron_variant MELA-AU 8 126364547 126364547 single base substitution C T intron_variant MELA-AU 8 126365189 126365189 single base substitution C T intron_variant MELA-AU 8 126366008 126366009 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 126367003 126367003 single base substitution C T intron_variant MELA-AU 8 126367266 126367266 single base substitution T G intron_variant MELA-AU 8 126369236 126369236 single base substitution G A intron_variant MELA-AU 8 126369273 126369273 single base substitution C T intron_variant MELA-AU 8 126369580 126369581 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU 8 126369860 126369860 single base substitution G A intron_variant MELA-AU 8 126369914 126369914 single base substitution C T intron_variant MELA-AU 8 126371083 126371083 single base substitution T A downstream_gene_variant MELA-AU 8 126371083 126371083 single base substitution T A intron_variant MELA-AU 8 126371083 126371083 single base substitution T A upstream_gene_variant MELA-AU 8 126371226 126371226 single base substitution C T downstream_gene_variant MELA-AU 8 126371226 126371226 single base substitution C T intron_variant MELA-AU 8 126371226 126371226 single base substitution C T upstream_gene_variant MELA-AU 8 126371952 126371952 single base substitution T A downstream_gene_variant MELA-AU 8 126371952 126371952 single base substitution T A intron_variant MELA-AU 8 126371952 126371952 single base substitution T A upstream_gene_variant MELA-AU 8 126372058 126372058 single base substitution C T downstream_gene_variant MELA-AU 8 126372058 126372058 single base substitution C T intron_variant MELA-AU 8 126372058 126372058 single base substitution C T upstream_gene_variant MELA-AU 8 126373109 126373109 single base substitution C T downstream_gene_variant MELA-AU 8 126373109 126373109 single base substitution C T intron_variant MELA-AU 8 126373109 126373109 single base substitution C T upstream_gene_variant MELA-AU 8 126373420 126373420 single base substitution G A downstream_gene_variant MELA-AU 8 126373420 126373420 single base substitution G A intron_variant MELA-AU 8 126373420 126373420 single base substitution G A upstream_gene_variant MELA-AU 8 126374332 126374333 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 8 126374332 126374333 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 126374332 126374333 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 126374530 126374530 single base substitution C T downstream_gene_variant MELA-AU 8 126374530 126374530 single base substitution C T intron_variant MELA-AU 8 126374530 126374530 single base substitution C T upstream_gene_variant MELA-AU 8 126375289 126375289 single base substitution C T exon_variant MELA-AU 8 126375289 126375289 single base substitution C T intron_variant MELA-AU 8 126376437 126376437 single base substitution C T intron_variant MELA-AU 8 126376648 126376649 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 126378221 126378221 single base substitution G A intron_variant MELA-AU 8 126378495 126378495 single base substitution C T intron_variant MELA-AU 8 126379287 126379287 single base substitution T C 3_prime_UTR_variant MELA-AU 8 126379287 126379287 single base substitution T C exon_variant MELA-AU 8 126379839 126379839 single base substitution A C downstream_gene_variant MELA-AU 8 126380975 126380975 single base substitution G A downstream_gene_variant MELA-AU 8 126381039 126381039 single base substitution G A downstream_gene_variant MELA-AU 8 126381444 126381444 single base substitution C T downstream_gene_variant MELA-AU 8 126381452 126381452 single base substitution C T downstream_gene_variant MELA-AU 8 126381485 126381485 single base substitution C T downstream_gene_variant MELA-AU 8 126381938 126381938 single base substitution T G downstream_gene_variant MELA-AU 8 126382003 126382003 single base substitution C T downstream_gene_variant MELA-AU 8 126382808 126382808 single base substitution C T downstream_gene_variant MELA-AU 8 126383876 126383876 single base substitution G T downstream_gene_variant MELA-AU 8 126384208 126384208 single base substitution T C downstream_gene_variant ORCA-IN 8 126102677 126102677 single base substitution C A upstream_gene_variant ORCA-IN 8 126155973 126155973 single base substitution C G intron_variant ORCA-IN 8 126157615 126157615 deletion of <=200bp A - intron_variant ORCA-IN 8 126177882 126177882 single base substitution C G intron_variant ORCA-IN 8 126211105 126211105 single base substitution G A intron_variant ORCA-IN 8 126274297 126274297 single base substitution C T intron_variant ORCA-IN 8 126276833 126276833 single base substitution G C intron_variant ORCA-IN 8 126292804 126292804 single base substitution C A intron_variant ORCA-IN 8 126305910 126305910 single base substitution C A intron_variant ORCA-IN 8 126324211 126324211 single base substitution G A intron_variant ORCA-IN 8 126340779 126340779 single base substitution C T intron_variant OV-AU 8 126100347 126100347 single base substitution G T upstream_gene_variant OV-AU 8 126107409 126107409 single base substitution T C intron_variant OV-AU 8 126107965 126107965 single base substitution C T intron_variant OV-AU 8 126113519 126113519 single base substitution G A intron_variant OV-AU 8 126113519 126113519 single base substitution G A upstream_gene_variant OV-AU 8 126122323 126122323 single base substitution G A intron_variant OV-AU 8 126125010 126125010 single base substitution G A intron_variant OV-AU 8 126125721 126125721 single base substitution C G intron_variant OV-AU 8 126125783 126125783 single base substitution A T intron_variant OV-AU 8 126128099 126128099 single base substitution G T intron_variant OV-AU 8 126128308 126128308 single base substitution T C intron_variant OV-AU 8 126134212 126134212 single base substitution C T intron_variant OV-AU 8 126134212 126134212 single base substitution C T upstream_gene_variant OV-AU 8 126140635 126140635 single base substitution G T intron_variant OV-AU 8 126143101 126143101 single base substitution C G intron_variant OV-AU 8 126144272 126144272 single base substitution G C intron_variant OV-AU 8 126144805 126144805 single base substitution G C intron_variant OV-AU 8 126149172 126149172 single base substitution T G intron_variant OV-AU 8 126149330 126149330 single base substitution T G intron_variant OV-AU 8 126150169 126150169 single base substitution A G intron_variant OV-AU 8 126150401 126150401 single base substitution C T intron_variant OV-AU 8 126152862 126152862 single base substitution G T intron_variant OV-AU 8 126156165 126156165 single base substitution A G intron_variant OV-AU 8 126156212 126156212 single base substitution G C intron_variant OV-AU 8 126162160 126162160 single base substitution G T intron_variant OV-AU 8 126162654 126162654 single base substitution T G intron_variant OV-AU 8 126165513 126165513 single base substitution G T downstream_gene_variant OV-AU 8 126165513 126165513 single base substitution G T intron_variant OV-AU 8 126168161 126168161 single base substitution C G downstream_gene_variant OV-AU 8 126168161 126168161 single base substitution C G intron_variant OV-AU 8 126169132 126169132 single base substitution C A downstream_gene_variant OV-AU 8 126169132 126169132 single base substitution C A intron_variant OV-AU 8 126172278 126172278 single base substitution T C downstream_gene_variant OV-AU 8 126172278 126172278 single base substitution T C intron_variant OV-AU 8 126181087 126181087 single base substitution T C intron_variant OV-AU 8 126185243 126185243 single base substitution T C intron_variant OV-AU 8 126187852 126187852 single base substitution T G intron_variant OV-AU 8 126191258 126191258 single base substitution A G intron_variant OV-AU 8 126193636 126193636 single base substitution T C intron_variant OV-AU 8 126202973 126202973 single base substitution A G intron_variant OV-AU 8 126203238 126203238 single base substitution G A intron_variant OV-AU 8 126210008 126210008 single base substitution A G intron_variant OV-AU 8 126213230 126213230 single base substitution G A intron_variant OV-AU 8 126213724 126213724 single base substitution G A intron_variant OV-AU 8 126216321 126216321 single base substitution G A intron_variant OV-AU 8 126225565 126225565 single base substitution C A intron_variant OV-AU 8 126227072 126227072 single base substitution A T intron_variant OV-AU 8 126229601 126229601 single base substitution A T intron_variant OV-AU 8 126231153 126231153 single base substitution C G intron_variant OV-AU 8 126231791 126231791 single base substitution A G intron_variant OV-AU 8 126233269 126233269 single base substitution A C intron_variant OV-AU 8 126240306 126240306 single base substitution G C intron_variant OV-AU 8 126242463 126242463 single base substitution A C intron_variant OV-AU 8 126257560 126257560 single base substitution G C intron_variant OV-AU 8 126259207 126259207 single base substitution A G intron_variant OV-AU 8 126261441 126261441 single base substitution G C intron_variant OV-AU 8 126262003 126262003 single base substitution C G intron_variant OV-AU 8 126263692 126263692 single base substitution T C intron_variant OV-AU 8 126266680 126266680 single base substitution C G intron_variant OV-AU 8 126269101 126269101 single base substitution G T intron_variant OV-AU 8 126269111 126269111 single base substitution G T intron_variant OV-AU 8 126270925 126270925 single base substitution C A intron_variant OV-AU 8 126278397 126278397 single base substitution G A intron_variant OV-AU 8 126279868 126279868 single base substitution A G intron_variant OV-AU 8 126287704 126287704 single base substitution G A intron_variant OV-AU 8 126288889 126288889 single base substitution A T intron_variant OV-AU 8 126290849 126290849 single base substitution G T intron_variant OV-AU 8 126291328 126291328 single base substitution A G intron_variant OV-AU 8 126294215 126294215 single base substitution G C intron_variant OV-AU 8 126298566 126298566 single base substitution T A intron_variant OV-AU 8 126301260 126301260 single base substitution C A intron_variant OV-AU 8 126310943 126310943 single base substitution T G intron_variant OV-AU 8 126319531 126319531 single base substitution C T intron_variant OV-AU 8 126319850 126319850 single base substitution C T intron_variant OV-AU 8 126319921 126319921 single base substitution C T intron_variant OV-AU 8 126320462 126320462 single base substitution C A intron_variant OV-AU 8 126320610 126320610 single base substitution C T intron_variant OV-AU 8 126321258 126321258 single base substitution G T intron_variant OV-AU 8 126322852 126322852 single base substitution C T intron_variant OV-AU 8 126322993 126322993 single base substitution C T intron_variant OV-AU 8 126323018 126323018 single base substitution C T intron_variant OV-AU 8 126324726 126324726 single base substitution C T intron_variant OV-AU 8 126324735 126324735 single base substitution C T intron_variant OV-AU 8 126324739 126324739 single base substitution C T intron_variant OV-AU 8 126329574 126329574 single base substitution G T intron_variant OV-AU 8 126336115 126336115 single base substitution G C intron_variant OV-AU 8 126338655 126338655 single base substitution A G intron_variant OV-AU 8 126339527 126339527 single base substitution A G intron_variant OV-AU 8 126348207 126348207 single base substitution A T intron_variant OV-AU 8 126351889 126351889 single base substitution G C intron_variant OV-AU 8 126355960 126355960 single base substitution G T intron_variant OV-AU 8 126355961 126355961 single base substitution G T intron_variant OV-AU 8 126358475 126358475 single base substitution A G intron_variant OV-AU 8 126360594 126360594 single base substitution A T intron_variant OV-AU 8 126362834 126362834 single base substitution G A intron_variant OV-AU 8 126365332 126365332 single base substitution T G intron_variant OV-AU 8 126370498 126370498 single base substitution C T downstream_gene_variant OV-AU 8 126370498 126370498 single base substitution C T intron_variant OV-AU 8 126370498 126370498 single base substitution C T upstream_gene_variant OV-AU 8 126371272 126371272 single base substitution G T downstream_gene_variant OV-AU 8 126371272 126371272 single base substitution G T intron_variant OV-AU 8 126371272 126371272 single base substitution G T upstream_gene_variant OV-AU 8 126371334 126371334 single base substitution C G downstream_gene_variant OV-AU 8 126371334 126371334 single base substitution C G intron_variant OV-AU 8 126371334 126371334 single base substitution C G upstream_gene_variant OV-AU 8 126372797 126372797 single base substitution A G downstream_gene_variant OV-AU 8 126372797 126372797 single base substitution A G intron_variant OV-AU 8 126372797 126372797 single base substitution A G upstream_gene_variant OV-AU 8 126373316 126373316 single base substitution T A downstream_gene_variant OV-AU 8 126373316 126373316 single base substitution T A intron_variant OV-AU 8 126373316 126373316 single base substitution T A upstream_gene_variant OV-AU 8 126378238 126378238 single base substitution G A intron_variant OV-AU 8 126378766 126378766 single base substitution A G intron_variant OV-AU 8 126379706 126379706 single base substitution G A downstream_gene_variant OV-AU 8 126382494 126382494 single base substitution G T downstream_gene_variant PACA-AU 8 126101650 126101650 single base substitution G A upstream_gene_variant PACA-AU 8 126105798 126105798 single base substitution A G intron_variant PACA-AU 8 126105950 126105950 single base substitution G T intron_variant PACA-AU 8 126118244 126118244 single base substitution C T downstream_gene_variant PACA-AU 8 126118244 126118244 single base substitution C T intron_variant PACA-AU 8 126120027 126120027 single base substitution G T intron_variant PACA-AU 8 126124678 126124678 single base substitution C T intron_variant PACA-AU 8 126125371 126125371 single base substitution G A intron_variant PACA-AU 8 126144596 126144596 single base substitution G A intron_variant PACA-AU 8 126146311 126146311 single base substitution G A intron_variant PACA-AU 8 126147238 126147238 single base substitution C T intron_variant PACA-AU 8 126153726 126153726 single base substitution T G intron_variant PACA-AU 8 126166084 126166084 single base substitution G A downstream_gene_variant PACA-AU 8 126166084 126166084 single base substitution G A intron_variant PACA-AU 8 126166087 126166087 single base substitution C A downstream_gene_variant PACA-AU 8 126166087 126166087 single base substitution C A intron_variant PACA-AU 8 126168169 126168169 single base substitution G T downstream_gene_variant PACA-AU 8 126168169 126168169 single base substitution G T intron_variant PACA-AU 8 126176658 126176658 single base substitution G C intron_variant PACA-AU 8 126186965 126186965 single base substitution G T intron_variant PACA-AU 8 126187061 126187062 deletion of <=200bp TT - intron_variant PACA-AU 8 126188743 126188743 single base substitution T G intron_variant PACA-AU 8 126188912 126188912 single base substitution C T intron_variant PACA-AU 8 126198198 126198198 single base substitution G T downstream_gene_variant PACA-AU 8 126198198 126198198 single base substitution G T intron_variant PACA-AU 8 126198831 126198831 single base substitution A C downstream_gene_variant PACA-AU 8 126198831 126198831 single base substitution A C intron_variant PACA-AU 8 126199463 126199463 single base substitution T G downstream_gene_variant PACA-AU 8 126199463 126199463 single base substitution T G intron_variant PACA-AU 8 126203053 126203053 single base substitution C A intron_variant PACA-AU 8 126206637 126206637 single base substitution C T intron_variant PACA-AU 8 126209008 126209008 single base substitution G A intron_variant PACA-AU 8 126216953 126216953 single base substitution C T intron_variant PACA-AU 8 126217575 126217575 single base substitution C T intron_variant PACA-AU 8 126219909 126219909 single base substitution G A intron_variant PACA-AU 8 126223453 126223453 single base substitution G A intron_variant PACA-AU 8 126229605 126229605 single base substitution T A intron_variant PACA-AU 8 126232256 126232272 deletion of <=200bp ATATAATGGGAAGTTCA - intron_variant PACA-AU 8 126235305 126235305 insertion of <=200bp - AAAAT intron_variant PACA-AU 8 126237694 126237694 single base substitution C T intron_variant PACA-AU 8 126238312 126238312 insertion of <=200bp - A intron_variant PACA-AU 8 126240973 126240973 single base substitution G C intron_variant PACA-AU 8 126241429 126241440 deletion of <=200bp AGAACCTGAACT - intron_variant PACA-AU 8 126248871 126248871 single base substitution C T intron_variant PACA-AU 8 126255743 126255743 single base substitution T A intron_variant PACA-AU 8 126262251 126262251 single base substitution G A intron_variant PACA-AU 8 126263415 126263415 single base substitution G A intron_variant PACA-AU 8 126264602 126264602 single base substitution C G intron_variant PACA-AU 8 126271372 126271372 single base substitution G T intron_variant PACA-AU 8 126276648 126276648 single base substitution C G intron_variant PACA-AU 8 126282889 126282889 single base substitution G T intron_variant PACA-AU 8 126284959 126284959 single base substitution A T intron_variant PACA-AU 8 126284960 126284960 single base substitution T A intron_variant PACA-AU 8 126284982 126284982 single base substitution C T intron_variant PACA-AU 8 126286944 126286944 single base substitution G C intron_variant PACA-AU 8 126290576 126290576 single base substitution G T intron_variant PACA-AU 8 126290577 126290577 single base substitution G T intron_variant PACA-AU 8 126294522 126294522 single base substitution A T intron_variant PACA-AU 8 126294676 126294676 single base substitution A G intron_variant PACA-AU 8 126296463 126296463 single base substitution T G intron_variant PACA-AU 8 126299549 126299549 single base substitution G A intron_variant PACA-AU 8 126299892 126299892 single base substitution G A intron_variant PACA-AU 8 126299902 126299902 single base substitution G C intron_variant PACA-AU 8 126300207 126300207 single base substitution T C intron_variant PACA-AU 8 126304147 126304147 single base substitution C A intron_variant PACA-AU 8 126310703 126310703 single base substitution G T intron_variant PACA-AU 8 126319935 126319935 single base substitution A G intron_variant PACA-AU 8 126323592 126323592 single base substitution T C intron_variant PACA-AU 8 126324331 126324331 single base substitution A G intron_variant PACA-AU 8 126325394 126325394 single base substitution A G intron_variant PACA-AU 8 126329015 126329015 single base substitution C T intron_variant PACA-AU 8 126329320 126329320 single base substitution C A intron_variant PACA-AU 8 126329686 126329686 single base substitution G A intron_variant PACA-AU 8 126331539 126331539 single base substitution G A intron_variant PACA-AU 8 126332396 126332396 single base substitution C T intron_variant PACA-AU 8 126335824 126335824 single base substitution G T intron_variant PACA-AU 8 126340832 126340832 single base substitution C T intron_variant PACA-AU 8 126342946 126342946 single base substitution A C intron_variant PACA-AU 8 126343574 126343574 deletion of <=200bp A - intron_variant PACA-AU 8 126347425 126347425 single base substitution A C intron_variant PACA-AU 8 126350156 126350156 single base substitution G A intron_variant PACA-AU 8 126351223 126351223 single base substitution T C intron_variant PACA-AU 8 126354754 126354754 single base substitution G T intron_variant PACA-AU 8 126355435 126355435 single base substitution C T intron_variant PACA-AU 8 126356196 126356196 single base substitution C T intron_variant PACA-AU 8 126363373 126363373 single base substitution T G intron_variant PACA-AU 8 126368098 126368098 single base substitution G T intron_variant PACA-AU 8 126368811 126368811 single base substitution C T intron_variant PACA-AU 8 126374564 126374564 single base substitution C T downstream_gene_variant PACA-AU 8 126374564 126374564 single base substitution C T intron_variant PACA-AU 8 126374564 126374564 single base substitution C T upstream_gene_variant PACA-AU 8 126382985 126382985 single base substitution G A downstream_gene_variant PACA-CA 8 126100414 126100414 single base substitution G T upstream_gene_variant PACA-CA 8 126105655 126105655 single base substitution G A intron_variant PACA-CA 8 126107779 126107779 single base substitution C T intron_variant PACA-CA 8 126114091 126114091 deletion of <=200bp T - intron_variant PACA-CA 8 126114091 126114091 deletion of <=200bp T - upstream_gene_variant PACA-CA 8 126117171 126117173 deletion of <=200bp AGG - downstream_gene_variant PACA-CA 8 126117171 126117173 deletion of <=200bp AGG - intron_variant PACA-CA 8 126117383 126117383 single base substitution A G downstream_gene_variant PACA-CA 8 126117383 126117383 single base substitution A G intron_variant PACA-CA 8 126127474 126127474 single base substitution G A intron_variant PACA-CA 8 126127978 126127978 single base substitution A T intron_variant PACA-CA 8 126129833 126129833 single base substitution A T intron_variant PACA-CA 8 126133135 126133135 single base substitution T A intron_variant PACA-CA 8 126133135 126133135 single base substitution T A upstream_gene_variant PACA-CA 8 126138578 126138578 single base substitution A G intron_variant PACA-CA 8 126142641 126142641 single base substitution C A intron_variant PACA-CA 8 126145512 126145512 single base substitution A C intron_variant PACA-CA 8 126145972 126145972 deletion of <=200bp A - intron_variant PACA-CA 8 126148540 126148540 single base substitution C T intron_variant PACA-CA 8 126149707 126149707 single base substitution C T intron_variant PACA-CA 8 126151110 126151110 single base substitution G A intron_variant PACA-CA 8 126154014 126154014 single base substitution A G intron_variant PACA-CA 8 126160066 126160066 single base substitution C T intron_variant PACA-CA 8 126162765 126162765 single base substitution T G intron_variant PACA-CA 8 126164699 126164699 single base substitution G A downstream_gene_variant PACA-CA 8 126164699 126164699 single base substitution G A intron_variant PACA-CA 8 126166157 126166157 deletion of <=200bp T - downstream_gene_variant PACA-CA 8 126166157 126166157 deletion of <=200bp T - intron_variant PACA-CA 8 126166819 126166819 insertion of <=200bp - A downstream_gene_variant PACA-CA 8 126166819 126166819 insertion of <=200bp - A intron_variant PACA-CA 8 126167348 126167348 single base substitution C T downstream_gene_variant PACA-CA 8 126167348 126167348 single base substitution C T intron_variant PACA-CA 8 126168576 126168576 single base substitution T C downstream_gene_variant PACA-CA 8 126168576 126168576 single base substitution T C intron_variant PACA-CA 8 126171614 126171614 single base substitution T C downstream_gene_variant PACA-CA 8 126171614 126171614 single base substitution T C intron_variant PACA-CA 8 126173785 126173785 single base substitution A T intron_variant PACA-CA 8 126179210 126179210 single base substitution C T intron_variant PACA-CA 8 126179969 126179969 single base substitution A G intron_variant PACA-CA 8 126181826 126181851 deletion of <=200bp TTTCCTGCTTCTCAAATTAATTCACC - intron_variant PACA-CA 8 126183383 126183383 single base substitution G A intron_variant PACA-CA 8 126183791 126183791 single base substitution G A intron_variant PACA-CA 8 126188702 126188702 deletion of <=200bp T - intron_variant PACA-CA 8 126188885 126188885 single base substitution T A intron_variant PACA-CA 8 126189067 126189068 deletion of <=200bp CG - intron_variant PACA-CA 8 126191200 126191200 single base substitution G T intron_variant PACA-CA 8 126193072 126193072 single base substitution G T intron_variant PACA-CA 8 126199993 126199993 single base substitution T C intron_variant PACA-CA 8 126203923 126203923 single base substitution G C intron_variant PACA-CA 8 126204427 126204427 single base substitution A G intron_variant PACA-CA 8 126206256 126206256 single base substitution G A intron_variant PACA-CA 8 126207790 126207790 single base substitution T C intron_variant PACA-CA 8 126212483 126212483 single base substitution G A intron_variant PACA-CA 8 126213475 126213475 single base substitution G A intron_variant PACA-CA 8 126215212 126215212 insertion of <=200bp - AG intron_variant PACA-CA 8 126219399 126219399 single base substitution T G intron_variant PACA-CA 8 126220822 126220822 single base substitution G A intron_variant PACA-CA 8 126224078 126224078 single base substitution C A intron_variant PACA-CA 8 126224082 126224082 single base substitution C G intron_variant PACA-CA 8 126225127 126225127 single base substitution T A intron_variant PACA-CA 8 126229408 126229408 single base substitution G T intron_variant PACA-CA 8 126229595 126229595 insertion of <=200bp - TATG intron_variant PACA-CA 8 126235833 126235833 single base substitution G A intron_variant PACA-CA 8 126236375 126236375 single base substitution G C intron_variant PACA-CA 8 126238598 126238598 single base substitution A G intron_variant PACA-CA 8 126240803 126240803 single base substitution A G intron_variant PACA-CA 8 126241413 126241413 single base substitution T C intron_variant PACA-CA 8 126247836 126247836 single base substitution T G intron_variant PACA-CA 8 126250134 126250134 single base substitution C A intron_variant PACA-CA 8 126250711 126250711 single base substitution A C intron_variant PACA-CA 8 126250903 126250903 single base substitution G C intron_variant PACA-CA 8 126252424 126252424 single base substitution G C intron_variant PACA-CA 8 126252776 126252776 single base substitution G C intron_variant PACA-CA 8 126258327 126258327 insertion of <=200bp - A intron_variant PACA-CA 8 126258401 126258401 single base substitution C A intron_variant PACA-CA 8 126266101 126266101 single base substitution T G intron_variant PACA-CA 8 126267451 126267451 single base substitution C T intron_variant PACA-CA 8 126270339 126270339 single base substitution C T intron_variant PACA-CA 8 126272974 126272974 single base substitution C A intron_variant PACA-CA 8 126275917 126275917 single base substitution G A intron_variant PACA-CA 8 126277071 126277071 single base substitution G A intron_variant PACA-CA 8 126284502 126284502 single base substitution C T intron_variant PACA-CA 8 126284721 126284721 single base substitution G A intron_variant PACA-CA 8 126285521 126285521 deletion of <=200bp T - intron_variant PACA-CA 8 126289028 126289028 single base substitution C G intron_variant PACA-CA 8 126291083 126291083 single base substitution G T intron_variant PACA-CA 8 126292189 126292189 single base substitution G C intron_variant PACA-CA 8 126295946 126295946 single base substitution A G intron_variant PACA-CA 8 126299224 126299224 single base substitution G A intron_variant PACA-CA 8 126305915 126305915 deletion of <=200bp A - intron_variant PACA-CA 8 126313155 126313155 single base substitution C T intron_variant PACA-CA 8 126313194 126313194 single base substitution C G intron_variant PACA-CA 8 126313690 126313690 single base substitution T G intron_variant PACA-CA 8 126317885 126317885 single base substitution G T intron_variant PACA-CA 8 126320192 126320192 single base substitution A G intron_variant PACA-CA 8 126321722 126321722 single base substitution C T intron_variant PACA-CA 8 126323893 126323893 single base substitution A G intron_variant PACA-CA 8 126328057 126328062 deletion of <=200bp TTTTTA - intron_variant PACA-CA 8 126332685 126332685 single base substitution G T intron_variant PACA-CA 8 126332686 126332686 single base substitution A T intron_variant PACA-CA 8 126332989 126332989 single base substitution G T intron_variant PACA-CA 8 126333612 126333612 single base substitution C T intron_variant PACA-CA 8 126335597 126335597 insertion of <=200bp - A intron_variant PACA-CA 8 126338271 126338271 single base substitution A G intron_variant PACA-CA 8 126338455 126338455 single base substitution C T intron_variant PACA-CA 8 126338949 126338949 single base substitution G A intron_variant PACA-CA 8 126343455 126343455 single base substitution T C intron_variant PACA-CA 8 126346285 126346285 single base substitution A C intron_variant PACA-CA 8 126349859 126349859 single base substitution G A intron_variant PACA-CA 8 126350045 126350045 single base substitution G A intron_variant PACA-CA 8 126355865 126355865 single base substitution A C intron_variant PACA-CA 8 126358309 126358309 single base substitution G A intron_variant PACA-CA 8 126362926 126362926 single base substitution A C intron_variant PACA-CA 8 126363981 126363981 single base substitution G T intron_variant PACA-CA 8 126366713 126366713 single base substitution A G intron_variant PACA-CA 8 126369384 126369384 single base substitution C G intron_variant PACA-CA 8 126370954 126370954 single base substitution T C downstream_gene_variant PACA-CA 8 126370954 126370954 single base substitution T C intron_variant PACA-CA 8 126370954 126370954 single base substitution T C upstream_gene_variant PACA-CA 8 126372199 126372199 single base substitution G A downstream_gene_variant PACA-CA 8 126372199 126372199 single base substitution G A intron_variant PACA-CA 8 126372199 126372199 single base substitution G A upstream_gene_variant PACA-CA 8 126372787 126372787 single base substitution C T downstream_gene_variant PACA-CA 8 126372787 126372787 single base substitution C T intron_variant PACA-CA 8 126372787 126372787 single base substitution C T upstream_gene_variant PACA-CA 8 126382102 126382102 single base substitution C T downstream_gene_variant PAEN-AU 8 126141820 126141820 single base substitution G C intron_variant PAEN-AU 8 126173484 126173484 single base substitution A C downstream_gene_variant PAEN-AU 8 126173484 126173484 single base substitution A C intron_variant PAEN-AU 8 126179220 126179220 single base substitution C G intron_variant PAEN-AU 8 126236115 126236115 single base substitution G A intron_variant PAEN-AU 8 126238205 126238205 single base substitution A G intron_variant PAEN-AU 8 126257300 126257300 single base substitution G C intron_variant PAEN-AU 8 126269564 126269564 single base substitution T G intron_variant PAEN-AU 8 126272788 126272788 single base substitution G C intron_variant PAEN-AU 8 126307720 126307720 single base substitution A T intron_variant PAEN-AU 8 126317882 126317882 single base substitution A G intron_variant PAEN-AU 8 126318031 126318031 single base substitution G T intron_variant PAEN-AU 8 126355465 126355465 single base substitution C T intron_variant PAEN-AU 8 126358808 126358808 single base substitution T G intron_variant PAEN-IT 8 126107750 126107750 single base substitution C A intron_variant PAEN-IT 8 126281309 126281309 single base substitution T C intron_variant PAEN-IT 8 126283219 126283219 single base substitution C G intron_variant PAEN-IT 8 126300044 126300044 single base substitution C T intron_variant PAEN-IT 8 126356326 126356326 single base substitution G C intron_variant PAEN-IT 8 126365081 126365081 single base substitution C T intron_variant PAEN-IT 8 126380751 126380751 single base substitution G A downstream_gene_variant PBCA-DE 8 126107908 126107908 single base substitution C T intron_variant PBCA-DE 8 126108489 126108489 single base substitution G T intron_variant PBCA-DE 8 126118290 126118291 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 8 126118290 126118291 deletion of <=200bp AC - intron_variant PBCA-DE 8 126122090 126122090 single base substitution A T intron_variant PBCA-DE 8 126127839 126127839 deletion of <=200bp A - intron_variant PBCA-DE 8 126130760 126130761 deletion of <=200bp TA - intron_variant PBCA-DE 8 126131361 126131361 single base substitution C A intron_variant PBCA-DE 8 126134389 126134389 single base substitution G A intron_variant PBCA-DE 8 126134389 126134389 single base substitution G A upstream_gene_variant PBCA-DE 8 126136713 126136714 deletion of <=200bp TC - intron_variant PBCA-DE 8 126145942 126145942 single base substitution C T intron_variant PBCA-DE 8 126155341 126155342 deletion of <=200bp CA - intron_variant PBCA-DE 8 126157068 126157068 single base substitution C A intron_variant PBCA-DE 8 126162937 126162937 single base substitution G T intron_variant PBCA-DE 8 126164482 126164482 single base substitution G T downstream_gene_variant PBCA-DE 8 126164482 126164482 single base substitution G T intron_variant PBCA-DE 8 126168327 126168327 single base substitution G T 3_prime_UTR_variant PBCA-DE 8 126168327 126168327 single base substitution G T downstream_gene_variant PBCA-DE 8 126168327 126168327 single base substitution G T exon_variant PBCA-DE 8 126168327 126168327 single base substitution G T intron_variant PBCA-DE 8 126172320 126172320 single base substitution T G downstream_gene_variant PBCA-DE 8 126172320 126172320 single base substitution T G intron_variant PBCA-DE 8 126195877 126195878 deletion of <=200bp GT - downstream_gene_variant PBCA-DE 8 126195877 126195878 deletion of <=200bp GT - intron_variant PBCA-DE 8 126197547 126197547 insertion of <=200bp - T downstream_gene_variant PBCA-DE 8 126197547 126197547 insertion of <=200bp - T intron_variant PBCA-DE 8 126201343 126201343 single base substitution G A intron_variant PBCA-DE 8 126207530 126207530 insertion of <=200bp - T intron_variant PBCA-DE 8 126215447 126215447 single base substitution A C intron_variant PBCA-DE 8 126217830 126217830 deletion of <=200bp C - intron_variant PBCA-DE 8 126231702 126231702 insertion of <=200bp - CTG intron_variant PBCA-DE 8 126234713 126234713 single base substitution G T intron_variant PBCA-DE 8 126235104 126235104 single base substitution A G intron_variant PBCA-DE 8 126247779 126247779 single base substitution C T intron_variant PBCA-DE 8 126260895 126260895 insertion of <=200bp - A intron_variant PBCA-DE 8 126262011 126262011 insertion of <=200bp - T intron_variant PBCA-DE 8 126262576 126262576 single base substitution A T intron_variant PBCA-DE 8 126291506 126291506 single base substitution T C intron_variant PBCA-DE 8 126296239 126296239 deletion of <=200bp C - intron_variant PBCA-DE 8 126305471 126305471 single base substitution A C intron_variant PBCA-DE 8 126321397 126321398 deletion of <=200bp GA - intron_variant PBCA-DE 8 126322492 126322492 single base substitution G A intron_variant PBCA-DE 8 126323583 126323583 deletion of <=200bp A - intron_variant PBCA-DE 8 126328427 126328427 single base substitution C T intron_variant PBCA-DE 8 126328897 126328897 single base substitution T C intron_variant PBCA-DE 8 126332476 126332476 single base substitution A G intron_variant PBCA-DE 8 126332493 126332493 single base substitution G A intron_variant PBCA-DE 8 126340950 126340950 single base substitution C T intron_variant PBCA-DE 8 126381752 126381752 deletion of <=200bp A - downstream_gene_variant PRAD-CA 8 126117213 126117213 single base substitution C T downstream_gene_variant PRAD-CA 8 126117213 126117213 single base substitution C T intron_variant PRAD-CA 8 126131533 126131533 single base substitution A C intron_variant PRAD-CA 8 126131533 126131533 single base substitution A C upstream_gene_variant PRAD-CA 8 126140111 126140111 single base substitution C T intron_variant PRAD-CA 8 126146815 126146815 single base substitution A G intron_variant PRAD-CA 8 126177638 126177638 single base substitution T A intron_variant PRAD-CA 8 126204274 126204274 single base substitution A G intron_variant PRAD-CA 8 126224965 126224965 single base substitution A C intron_variant PRAD-CA 8 126225480 126225480 single base substitution T G intron_variant PRAD-CA 8 126248734 126248734 single base substitution A C intron_variant PRAD-CA 8 126266455 126266455 single base substitution C G intron_variant PRAD-CA 8 126277475 126277475 single base substitution C T intron_variant PRAD-CA 8 126284959 126284959 single base substitution A T intron_variant PRAD-CA 8 126284960 126284960 single base substitution T A intron_variant PRAD-CA 8 126296982 126296982 single base substitution G T intron_variant PRAD-CA 8 126302234 126302234 single base substitution C T intron_variant PRAD-CA 8 126350838 126350838 single base substitution C A intron_variant PRAD-CA 8 126377696 126377696 single base substitution C G intron_variant PRAD-CA 8 126381582 126381582 single base substitution G A downstream_gene_variant PRAD-UK 8 126102182 126102182 deletion of <=200bp T - upstream_gene_variant PRAD-UK 8 126110679 126110679 single base substitution T G intron_variant PRAD-UK 8 126110679 126110679 single base substitution T G upstream_gene_variant PRAD-UK 8 126118577 126118577 single base substitution A G downstream_gene_variant PRAD-UK 8 126118577 126118577 single base substitution A G intron_variant PRAD-UK 8 126159114 126159114 single base substitution T C intron_variant PRAD-UK 8 126167032 126167032 single base substitution A G downstream_gene_variant PRAD-UK 8 126167032 126167032 single base substitution A G intron_variant PRAD-UK 8 126168559 126168559 single base substitution C G downstream_gene_variant PRAD-UK 8 126168559 126168559 single base substitution C G intron_variant PRAD-UK 8 126179555 126179555 single base substitution A G intron_variant PRAD-UK 8 126182771 126182771 single base substitution C T intron_variant PRAD-UK 8 126199080 126199080 single base substitution A G downstream_gene_variant PRAD-UK 8 126199080 126199080 single base substitution A G intron_variant PRAD-UK 8 126221189 126221189 single base substitution A G intron_variant PRAD-UK 8 126222209 126222209 single base substitution A G intron_variant PRAD-UK 8 126229118 126229137 deletion of <=200bp GTTCTGGTAAATTATTTATA - intron_variant PRAD-UK 8 126233321 126233321 insertion of <=200bp - G intron_variant PRAD-UK 8 126236477 126236477 single base substitution C T intron_variant PRAD-UK 8 126245416 126245416 single base substitution A G intron_variant PRAD-UK 8 126249710 126249710 single base substitution C A intron_variant PRAD-UK 8 126250989 126250989 single base substitution A C intron_variant PRAD-UK 8 126255286 126255286 insertion of <=200bp - A intron_variant PRAD-UK 8 126257290 126257290 single base substitution C A intron_variant PRAD-UK 8 126258976 126258976 single base substitution T G intron_variant PRAD-UK 8 126260175 126260175 single base substitution C G intron_variant PRAD-UK 8 126265480 126265480 deletion of <=200bp A - intron_variant PRAD-UK 8 126286259 126286259 single base substitution T A intron_variant PRAD-UK 8 126296452 126296452 deletion of <=200bp G - intron_variant PRAD-UK 8 126296463 126296510 multiple base substitution (>=2bp and <=200bp) TTAAGTTCTGCCACTTTGTTAAAAAAAATACCCCTGAAAGACAGAGTA TAAGTTCTGCCACTTTGTTAAAAAAAATACCCTC intron_variant PRAD-UK 8 126297898 126297898 single base substitution A G intron_variant PRAD-UK 8 126300097 126300097 single base substitution C T intron_variant PRAD-UK 8 126301536 126301536 single base substitution G C intron_variant PRAD-UK 8 126311301 126311301 deletion of <=200bp A - intron_variant PRAD-UK 8 126317254 126317255 deletion of <=200bp AA - intron_variant PRAD-UK 8 126317255 126317255 single base substitution A G intron_variant PRAD-UK 8 126336219 126336219 single base substitution G C intron_variant PRAD-UK 8 126374071 126374071 single base substitution G A downstream_gene_variant PRAD-UK 8 126374071 126374071 single base substitution G A intron_variant PRAD-UK 8 126374071 126374071 single base substitution G A upstream_gene_variant RECA-EU 8 126109636 126109636 single base substitution A G intron_variant RECA-EU 8 126109636 126109636 single base substitution A G upstream_gene_variant RECA-EU 8 126120463 126120463 single base substitution C T intron_variant RECA-EU 8 126130956 126130956 single base substitution G C intron_variant RECA-EU 8 126152802 126152802 single base substitution G A intron_variant RECA-EU 8 126161977 126161977 single base substitution T C intron_variant RECA-EU 8 126169115 126169115 single base substitution T A downstream_gene_variant RECA-EU 8 126169115 126169115 single base substitution T A intron_variant RECA-EU 8 126185474 126185474 single base substitution A T intron_variant RECA-EU 8 126190573 126190573 single base substitution A C intron_variant RECA-EU 8 126191856 126191856 single base substitution A C intron_variant RECA-EU 8 126193369 126193369 single base substitution G C intron_variant RECA-EU 8 126197297 126197297 single base substitution T G downstream_gene_variant RECA-EU 8 126197297 126197297 single base substitution T G intron_variant RECA-EU 8 126199604 126199604 single base substitution C T downstream_gene_variant RECA-EU 8 126199604 126199604 single base substitution C T intron_variant RECA-EU 8 126205018 126205018 single base substitution C T intron_variant RECA-EU 8 126215616 126215616 single base substitution A T intron_variant RECA-EU 8 126216433 126216433 single base substitution C A intron_variant RECA-EU 8 126221683 126221683 single base substitution T G intron_variant RECA-EU 8 126221952 126221952 single base substitution T C intron_variant RECA-EU 8 126236171 126236171 single base substitution C T intron_variant RECA-EU 8 126241686 126241686 single base substitution G C intron_variant RECA-EU 8 126252968 126252968 single base substitution T C intron_variant RECA-EU 8 126264223 126264223 single base substitution C G intron_variant RECA-EU 8 126265275 126265275 single base substitution C T intron_variant RECA-EU 8 126282185 126282185 single base substitution C T intron_variant RECA-EU 8 126282195 126282195 single base substitution G T intron_variant RECA-EU 8 126284959 126284959 single base substitution A T intron_variant RECA-EU 8 126284960 126284960 single base substitution T A intron_variant RECA-EU 8 126286534 126286534 single base substitution G A intron_variant RECA-EU 8 126296684 126296684 single base substitution C G intron_variant RECA-EU 8 126297873 126297873 single base substitution T A intron_variant RECA-EU 8 126309983 126309983 single base substitution A G intron_variant RECA-EU 8 126326992 126326992 single base substitution T G intron_variant RECA-EU 8 126329010 126329010 single base substitution C T intron_variant RECA-EU 8 126329011 126329011 single base substitution T C intron_variant RECA-EU 8 126335567 126335567 single base substitution A G intron_variant RECA-EU 8 126344197 126344197 single base substitution T G intron_variant RECA-EU 8 126347330 126347330 single base substitution G T intron_variant RECA-EU 8 126350144 126350144 single base substitution A G intron_variant RECA-EU 8 126354467 126354467 single base substitution T A intron_variant RECA-EU 8 126364938 126364938 single base substitution A T intron_variant RECA-EU 8 126365164 126365164 single base substitution T C intron_variant RECA-EU 8 126368238 126368238 single base substitution C A intron_variant RECA-EU 8 126372505 126372505 single base substitution G A downstream_gene_variant RECA-EU 8 126372505 126372505 single base substitution G A intron_variant RECA-EU 8 126372505 126372505 single base substitution G A upstream_gene_variant RECA-EU 8 126373501 126373501 single base substitution G C downstream_gene_variant RECA-EU 8 126373501 126373501 single base substitution G C intron_variant RECA-EU 8 126373501 126373501 single base substitution G C upstream_gene_variant RECA-EU 8 126377354 126377354 single base substitution A G intron_variant RECA-EU 8 126381038 126381038 single base substitution C G downstream_gene_variant SKCA-BR 8 126101182 126101182 single base substitution A G upstream_gene_variant SKCA-BR 8 126106151 126106151 single base substitution A C intron_variant SKCA-BR 8 126106198 126106198 single base substitution C T intron_variant SKCA-BR 8 126106729 126106729 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 8 126106729 126106729 single base substitution C T intron_variant SKCA-BR 8 126110418 126110418 single base substitution C T intron_variant SKCA-BR 8 126110418 126110418 single base substitution C T upstream_gene_variant SKCA-BR 8 126113229 126113229 single base substitution A G intron_variant SKCA-BR 8 126113229 126113229 single base substitution A G upstream_gene_variant SKCA-BR 8 126114555 126114555 single base substitution T C intron_variant SKCA-BR 8 126114555 126114555 single base substitution T C splice_region_variant SKCA-BR 8 126114555 126114555 single base substitution T C upstream_gene_variant SKCA-BR 8 126118599 126118599 single base substitution T A downstream_gene_variant SKCA-BR 8 126118599 126118599 single base substitution T A intron_variant SKCA-BR 8 126119152 126119152 single base substitution C T downstream_gene_variant SKCA-BR 8 126119152 126119152 single base substitution C T intron_variant SKCA-BR 8 126125665 126125665 single base substitution C G intron_variant SKCA-BR 8 126128671 126128671 single base substitution T C intron_variant SKCA-BR 8 126128762 126128762 single base substitution C T intron_variant SKCA-BR 8 126129127 126129127 insertion of <=200bp - CT intron_variant SKCA-BR 8 126131931 126131931 single base substitution G A intron_variant SKCA-BR 8 126131931 126131931 single base substitution G A upstream_gene_variant SKCA-BR 8 126132346 126132346 single base substitution C T intron_variant SKCA-BR 8 126132346 126132346 single base substitution C T upstream_gene_variant SKCA-BR 8 126132393 126132393 single base substitution C T intron_variant SKCA-BR 8 126132393 126132393 single base substitution C T upstream_gene_variant SKCA-BR 8 126134414 126134414 single base substitution C T intron_variant SKCA-BR 8 126134414 126134414 single base substitution C T upstream_gene_variant SKCA-BR 8 126138612 126138612 insertion of <=200bp - CA intron_variant SKCA-BR 8 126140244 126140244 single base substitution A T intron_variant SKCA-BR 8 126141786 126141786 insertion of <=200bp - CTGTG intron_variant SKCA-BR 8 126142338 126142338 single base substitution C A intron_variant SKCA-BR 8 126145574 126145574 single base substitution C T intron_variant SKCA-BR 8 126146930 126146930 single base substitution A T intron_variant SKCA-BR 8 126148431 126148431 single base substitution T G intron_variant SKCA-BR 8 126148436 126148436 single base substitution G T intron_variant SKCA-BR 8 126149100 126149100 single base substitution C T intron_variant SKCA-BR 8 126155340 126155340 insertion of <=200bp - GCA intron_variant SKCA-BR 8 126156785 126156785 single base substitution G A intron_variant SKCA-BR 8 126162102 126162102 single base substitution A T intron_variant SKCA-BR 8 126162109 126162109 single base substitution T A intron_variant SKCA-BR 8 126163286 126163286 single base substitution T C intron_variant SKCA-BR 8 126166628 126166628 single base substitution C T downstream_gene_variant SKCA-BR 8 126166628 126166628 single base substitution C T intron_variant SKCA-BR 8 126172691 126172691 single base substitution C T downstream_gene_variant SKCA-BR 8 126172691 126172691 single base substitution C T intron_variant SKCA-BR 8 126174569 126174569 single base substitution T A intron_variant SKCA-BR 8 126180882 126180882 single base substitution A G intron_variant SKCA-BR 8 126190394 126190394 single base substitution T A intron_variant SKCA-BR 8 126195876 126195876 insertion of <=200bp - GGT downstream_gene_variant SKCA-BR 8 126195876 126195876 insertion of <=200bp - GGT intron_variant SKCA-BR 8 126201552 126201552 single base substitution C T intron_variant SKCA-BR 8 126202241 126202241 single base substitution A C intron_variant SKCA-BR 8 126203965 126203965 single base substitution C T intron_variant SKCA-BR 8 126204053 126204053 single base substitution A G intron_variant SKCA-BR 8 126209698 126209698 single base substitution T C intron_variant SKCA-BR 8 126213164 126213164 single base substitution C T intron_variant SKCA-BR 8 126213177 126213177 single base substitution T C intron_variant SKCA-BR 8 126213817 126213817 single base substitution A G intron_variant SKCA-BR 8 126216339 126216339 single base substitution A T intron_variant SKCA-BR 8 126217988 126217988 single base substitution C T intron_variant SKCA-BR 8 126225949 126225949 insertion of <=200bp - CCCTTCCTTCCTTCCTTATTT intron_variant SKCA-BR 8 126227440 126227440 single base substitution T C intron_variant SKCA-BR 8 126230192 126230192 single base substitution G A intron_variant SKCA-BR 8 126233209 126233220 deletion of <=200bp ATATCTCGAAGG - intron_variant SKCA-BR 8 126235075 126235075 single base substitution T G intron_variant SKCA-BR 8 126242888 126242888 single base substitution A G intron_variant SKCA-BR 8 126245836 126245836 single base substitution C T intron_variant SKCA-BR 8 126247402 126247402 single base substitution G T intron_variant SKCA-BR 8 126251276 126251276 single base substitution T C intron_variant SKCA-BR 8 126251850 126251851 deletion of <=200bp CA - intron_variant SKCA-BR 8 126254348 126254348 insertion of <=200bp - GGGC intron_variant SKCA-BR 8 126258634 126258634 single base substitution C T intron_variant SKCA-BR 8 126259966 126259966 insertion of <=200bp - CAA intron_variant SKCA-BR 8 126262139 126262139 single base substitution A G intron_variant SKCA-BR 8 126267401 126267401 single base substitution C T intron_variant SKCA-BR 8 126268966 126268966 single base substitution G A intron_variant SKCA-BR 8 126269050 126269050 single base substitution C T intron_variant SKCA-BR 8 126274338 126274338 insertion of <=200bp - CAAAAT intron_variant SKCA-BR 8 126278334 126278334 insertion of <=200bp - CT intron_variant SKCA-BR 8 126280796 126280796 single base substitution C T intron_variant SKCA-BR 8 126282874 126282874 single base substitution C T intron_variant SKCA-BR 8 126284959 126284959 single base substitution A T intron_variant SKCA-BR 8 126284960 126284960 single base substitution T A intron_variant SKCA-BR 8 126290692 126290692 single base substitution C T intron_variant SKCA-BR 8 126298556 126298556 insertion of <=200bp - TA intron_variant SKCA-BR 8 126302454 126302454 single base substitution G T intron_variant SKCA-BR 8 126308979 126308979 single base substitution C T intron_variant SKCA-BR 8 126310938 126310939 deletion of <=200bp TG - intron_variant SKCA-BR 8 126311185 126311185 single base substitution C T intron_variant SKCA-BR 8 126320002 126320002 single base substitution C T intron_variant SKCA-BR 8 126320678 126320678 single base substitution C T intron_variant SKCA-BR 8 126326506 126326506 insertion of <=200bp - GTGTTTTGTTTT intron_variant SKCA-BR 8 126328859 126328888 deletion of <=200bp ATTTCCTTCTTTCCTTTCTTTATTTCCTTC - intron_variant SKCA-BR 8 126328953 126328953 single base substitution T C intron_variant SKCA-BR 8 126335846 126335846 single base substitution T C intron_variant SKCA-BR 8 126336710 126336711 deletion of <=200bp CA - intron_variant SKCA-BR 8 126337556 126337566 deletion of <=200bp ATAAAATAAAG - intron_variant SKCA-BR 8 126338235 126338235 single base substitution C A intron_variant SKCA-BR 8 126343134 126343134 single base substitution A T intron_variant SKCA-BR 8 126344893 126344893 single base substitution A G intron_variant SKCA-BR 8 126347012 126347014 deletion of <=200bp TTC - intron_variant SKCA-BR 8 126347701 126347701 single base substitution C T intron_variant SKCA-BR 8 126352258 126352258 insertion of <=200bp - TTG intron_variant SKCA-BR 8 126352872 126352872 single base substitution A C intron_variant SKCA-BR 8 126358225 126358225 single base substitution C T intron_variant SKCA-BR 8 126358226 126358226 single base substitution C T intron_variant SKCA-BR 8 126365146 126365146 single base substitution A C intron_variant SKCA-BR 8 126368375 126368375 single base substitution G A intron_variant SKCA-BR 8 126371605 126371605 single base substitution C T downstream_gene_variant SKCA-BR 8 126371605 126371605 single base substitution C T intron_variant SKCA-BR 8 126371605 126371605 single base substitution C T upstream_gene_variant SKCA-BR 8 126373822 126373822 single base substitution C T downstream_gene_variant SKCA-BR 8 126373822 126373822 single base substitution C T intron_variant SKCA-BR 8 126373822 126373822 single base substitution C T upstream_gene_variant SKCA-BR 8 126374175 126374175 single base substitution G A downstream_gene_variant SKCA-BR 8 126374175 126374175 single base substitution G A intron_variant SKCA-BR 8 126374175 126374175 single base substitution G A upstream_gene_variant SKCA-BR 8 126375754 126375754 single base substitution G A intron_variant SKCA-BR 8 126376699 126376699 single base substitution C T intron_variant SKCA-BR 8 126381151 126381151 single base substitution C T downstream_gene_variant SKCA-BR 8 126382043 126382043 single base substitution C T downstream_gene_variant SKCA-BR 8 126384192 126384192 single base substitution C T downstream_gene_variant SKCA-BR 8 126384199 126384199 single base substitution C T downstream_gene_variant SKCM-US 8 126114576 126114576 single base substitution C T exon_variant SKCM-US 8 126114576 126114576 single base substitution C T missense_variant P2S 4C>T SKCM-US 8 126114576 126114576 single base substitution C T upstream_gene_variant SKCM-US 8 126379036 126379036 single base substitution C T exon_variant SKCM-US 8 126379036 126379036 single base substitution C T missense_variant T158M 473C>T SKCM-US 8 126379036 126379036 single base substitution C T missense_variant T218M 653C>T SKCM-US 8 126379116 126379116 single base substitution C T exon_variant SKCM-US 8 126379116 126379116 single base substitution C T missense_variant H185Y 553C>T SKCM-US 8 126379116 126379116 single base substitution C T missense_variant H245Y 733C>T STAD-US 8 126114681 126114681 single base substitution G T exon_variant STAD-US 8 126114681 126114681 single base substitution G T missense_variant G37C 109G>T STAD-US 8 126194403 126194403 single base substitution T G 3_prime_UTR_variant STAD-US 8 126194403 126194403 single base substitution T G exon_variant STAD-US 8 126194403 126194403 single base substitution T G missense_variant F108C 323T>G STAD-US 8 126194403 126194403 single base substitution T G missense_variant F48C 143T>G STAD-US 8 126369982 126369985 deletion of <=200bp AAGT - frameshift_variant KV123 STAD-US 8 126369982 126369985 deletion of <=200bp AAGT - frameshift_variant KV183 UCEC-US 8 126370044 126370044 single base substitution C T downstream_gene_variant UCEC-US 8 126370044 126370044 single base substitution C T missense_variant R144W 430C>T UCEC-US 8 126370044 126370044 single base substitution C T missense_variant R204W 610C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Esp66 COSM1742657 c.32C>T p.S11L Substitution - Missense 8:125102362-125102362 + HCC2998 COSM1674170 c.323T>G p.F108C Substitution - Missense 8:125182161-125182161 + SCC-9 COSM3316627 c.214G>T p.D72Y Substitution - Missense 8:125151227-125151227 + TCGA-AC-A23H-01 COSM3834034 c.313G>C p.E105Q Substitution - Missense 8:125182151-125182151 + ESCC-D2 COSM5045793 c.142C>G p.L48V Substitution - Missense 8:125102472-125102472 + TCGA-DK-A1A5-01 COSM421745 c.107C>G p.S36C Substitution - Missense 8:125102437-125102437 + LUAD-RT-S01840 COSM384850 c.176A>G p.Y59C Substitution - Missense 8:125151189-125151189 + RK308_C01 COSM3768689 c.221A>G p.Q74R Substitution - Missense 8:125151234-125151234 + C004 COSM5521779 c.26C>T p.S9L Substitution - Missense 8:125102356-125102356 + QC2-39-T2 COSM5655602 c.51C>T p.F17F Substitution - coding silent 8:125102381-125102381 + B81-1 COSM1745314 c.168_202del35 p.S57fs*49 Deletion - Frameshift 8:125151181-125151215 + BN38T COSM1095974 c.610C>T p.R204W Substitution - Missense 8:125357802-125357802 + LUAD-NYU575 COSM375136 c.265-2A>T p.? Unknown 8:125182101-125182101 + TCGA-CM-6162-01 COSM1454766 c.630C>T p.C210C Substitution - coding silent 8:125366771-125366771 + YUOTHO COSM5408809 c.737C>T p.S246F Substitution - Missense 8:125366878-125366878 + TCGA-B5-A11E-01 COSM1095974 c.610C>T p.R204W Substitution - Missense 8:125357802-125357802 + SW480 COSM4656021 c.383A>T p.Q128L Substitution - Missense 8:125182221-125182221 + HCC1395 COSM32753 c.81G>C p.L27F Substitution - Missense 8:125102411-125102411 + BN38 COSM1095974 c.610C>T p.R204W Substitution - Missense 8:125357802-125357802 + 134413 COSM325980 c.681G>T p.Q227H Substitution - Missense 8:125366822-125366822 + TCGA-DK-A1A5-01 COSM421744 c.125C>T p.S42F Substitution - Missense 8:125102455-125102455 + 255 COSM3732349 c.68C>T p.A23V Substitution - Missense 8:125102398-125102398 + TCGA-BR-6852-01 COSM3896685 c.109G>T p.G37C Substitution - Missense 8:125102439-125102439 + HT115 COSM3316635 c.318G>T p.K106N Substitution - Missense 8:125182156-125182156 + RK138_C01 COSM1635640 c.158-3C>T p.? Unknown 8:125151168-125151168 + TCGA-EE-A2MR-06 COSM3644981 c.733C>T p.H245Y Substitution - Missense 8:125366874-125366874 + TCGA-AO-A03N-01 COSM453997 c.295G>C p.D99H Substitution - Missense 8:125182133-125182133 + TCGA-39-5037-01 COSM749421 c.457G>A p.G153R Substitution - Missense 8:125357257-125357257 + PTC-14C COSM4162663 c.564C>A p.T188T Substitution - coding silent 8:125357756-125357756 + TCGA-A6-5665-01 COSM1454758 c.252T>C p.S84S Substitution - coding silent 8:125151265-125151265 + HCC2998 COSM3316639 c.546T>C p.N182N Substitution - coding silent 8:125357738-125357738 + BD236T COSM5518859 c.738C>T p.S246S Substitution - coding silent 8:125366879-125366879 + RK134_C01 COSM3703358 c.653C>A p.T218K Substitution - Missense 8:125366794-125366794 + cSCCP4 COSM138691 c.508C>T p.P170S Substitution - Missense 8:125357308-125357308 + pfg122T COSM4765415 c.284_285insA p.I97fs*21 Insertion - Frameshift 8:125182122-125182123 + ESCC-057T COSM3942514 c.102C>G p.I34M Substitution - Missense 8:125102432-125102432 + TCGA-EE-A2GO-06 COSM3644980 c.4C>T p.P2S Substitution - Missense 8:125102334-125102334 + TCGA-BR-8680-01 COSM1674170 c.323T>G p.F108C Substitution - Missense 8:125182161-125182161 + T2969 COSM4708377 c.98G>A p.C33Y Substitution - Missense 8:125102428-125102428 + TCGA-23-1120-01 COSM119759 c.562A>T p.T188S Substitution - Missense 8:125357754-125357754 + SNU-175 COSM3316643 c.653C>T p.T218M Substitution - Missense 8:125366794-125366794 + ESCC_10 COSM5624038 c.439G>C p.E147Q Substitution - Missense 8:125357239-125357239 + PTC-7C COSM4162662 c.487A>T p.S163C Substitution - Missense 8:125357287-125357287 + TCGA-DA-A1HY-06 COSM3316643 c.653C>T p.T218M Substitution - Missense 8:125366794-125366794 + PD8969a COSM5798809 c.28G>A p.G10S Substitution - Missense 8:125102358-125102358 + ESCC-009T COSM3942515 c.335A>T p.Q112L Substitution - Missense 8:125182173-125182173 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.388287;Hs.388297 8q24.13

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A Frameshift p.A32Sfs*12 c.93dupA 8 126114664 RCCC A G IntronicSNV . c.1-925A>G 8 126113648 PIA A G IntronicSNV . c.418+84889A>G 8 126279387 CLL A T Missense p.T188S c.562A>T 8 126369996 OV C G Missense p.S36C c.107C>G 8 126114679 BLCA C T Missense p.P2S c.4C>T 8 126114576 CM C T Missense p.S42F c.125C>T 8 126114697 BLCA C T Missense p.T218M c.653C>T 8 126379036 CM G A Missense p.G153R c.457G>A 8 126369499 LUSC G C Missense p.A64P c.190G>C 8 126163445 MM G C Missense p.D99H c.295G>C 8 126194375 BRCA G C Missense p.E191Q c.571G>C 8 126370005 BRCA G T Missense p.A234S c.700G>T 8 126379083 LUAD G T Missense p.G186C c.556G>T 8 126369990 CM G T Missense p.G19C c.55G>T 8 126114627 CM G T Missense p.G37C c.109G>T 8 126114681 STAD G T Missense p.Q227H c.681G>T 8 126379064 SCLC G T SpliceAcceptorSNV . c.265-1G>T 8 126194344 CM - TGTTTTGTTTT IntronicInsertion . c.419-42954_419-42953insTGTTTTGTTTT 8 126326507 CM