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 14 61262967 61262967 + Missense_Mutation SNP G G A TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr14:61262967G>A c.122G>A c.(121-123)aGa>aAa p.R41K BLCA 14 61278769 61278769 + Missense_Mutation SNP G G T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr14:61278769G>T c.485G>T c.(484-486)aGa>aTa p.R162I BLCA 14 61278789 61278789 + Missense_Mutation SNP G G A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr14:61278789G>A c.505G>A c.(505-507)Gaa>Aaa p.E169K BLCA 14 61285476 61285476 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr14:61285476C>T c.598C>T c.(598-600)Cag>Tag p.Q200* BRCA 14 61285489 61285489 + Missense_Mutation SNP G G C TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 g.chr14:61285489G>C c.611G>C c.(610-612)aGa>aCa p.R204T BRCA 14 61434964 61434964 + Missense_Mutation SNP G G C TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 g.chr14:61434964G>C c.827G>C c.(826-828)aGa>aCa p.R276T COAD 14 61262972 61262972 + Missense_Mutation SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr14:61262972G>A c.127G>A c.(127-129)Gct>Act p.A43T COAD 14 61275148 61275148 + Splice_Site SNP T T C TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr14:61275148T>C c.e4+2 COAD 14 61278823 61278823 + Missense_Mutation SNP A A C TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr14:61278823A>C c.539A>C c.(538-540)aAg>aCg p.K180T COADREAD 14 61262972 61262972 + Missense_Mutation SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr14:61262972G>A c.127G>A c.(127-129)Gct>Act p.A43T COADREAD 14 61275148 61275148 + Splice_Site SNP T T C TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr14:61275148T>C c.e4+2 COADREAD 14 61278823 61278823 + Missense_Mutation SNP A A C TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr14:61278823A>C c.539A>C c.(538-540)aAg>aCg p.K180T COADREAD 14 61285488 61285488 + Missense_Mutation SNP A A G TCGA-DC-6683-01A-11D-1826-10 TCGA-DC-6683-10A-01D-1826-10 g.chr14:61285488A>G c.610A>G c.(610-612)Aga>Gga p.R204G ESCA 14 61275047 61275047 + Silent SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 g.chr14:61275047C>T c.321C>T c.(319-321)ttC>ttT p.F107F ESCA 14 61278748 61278748 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 g.chr14:61278748G>A c.464G>A c.(463-465)cGa>cAa p.R155Q HNSC 14 61201602 61201602 + Missense_Mutation SNP C C T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 g.chr14:61201602C>T c.22C>T c.(22-24)Cgg>Tgg p.R8W KIPAN 14 61434959 61434959 + Silent SNP T T C TCGA-B9-7268-01A-11D-2136-08 TCGA-B9-7268-10A-01D-2136-08 g.chr14:61434959T>C c.822T>C c.(820-822)caT>caC p.H274H KIPAN 14 61434986 61434986 + Silent SNP T T C TCGA-EV-5903-01A-11D-1589-08 TCGA-EV-5903-10A-01D-1589-08 g.chr14:61434986T>C c.849T>C c.(847-849)ctT>ctC p.L283L KIRP 14 61434959 61434959 + Silent SNP T T C TCGA-B9-7268-01A-11D-2136-08 TCGA-B9-7268-10A-01D-2136-08 g.chr14:61434959T>C c.822T>C c.(820-822)caT>caC p.H274H KIRP 14 61434986 61434986 + Silent SNP T T C TCGA-EV-5903-01A-11D-1589-08 TCGA-EV-5903-10A-01D-1589-08 g.chr14:61434986T>C c.849T>C c.(847-849)ctT>ctC p.L283L LIHC 14 61275080 61275080 + Silent SNP C C T TCGA-DD-A73E-01A-12D-A32G-10 TCGA-DD-A73E-10A-01D-A32G-10 g.chr14:61275080C>T c.354C>T c.(352-354)acC>acT p.T118T LUAD 14 61201638 61201638 + Nonsense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr14:61201638A>T c.58A>T c.(58-60)Aag>Tag p.K20* LUAD 14 61346468 61346468 + Missense_Mutation SNP G G C TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr14:61346468G>C c.724G>C c.(724-726)Gaa>Caa p.E242Q OV 14 61285490 61285490 + Silent SNP A A G TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 g.chr14:61285490A>G c.612A>G c.(610-612)agA>agG p.R204R OV 14 61346553 61346553 + Splice_Site SNP G G C TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 g.chr14:61346553G>C c.809G>C c.(808-810)gGg>gCg p.G270A READ 14 61285488 61285488 + Missense_Mutation SNP A A G TCGA-DC-6683-01A-11D-1826-10 TCGA-DC-6683-10A-01D-1826-10 g.chr14:61285488A>G c.610A>G c.(610-612)Aga>Gga p.R204G SARC 14 61285544 61285544 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 g.chr14:61285544G>A c.666G>A c.(664-666)acG>acA p.T222T SKCM 14 61201633 61201633 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 g.chr14:61201633C>T c.53C>T c.(52-54)tCc>tTc p.S18F SKCM 14 61264836 61264836 + Missense_Mutation SNP C C G TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr14:61264836C>G c.274C>G c.(274-276)Cta>Gta p.L92V

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 14 61263006 61263006 single base substitution G C exon_variant BLCA-CN 14 61263006 61263006 single base substitution G C intron_variant BLCA-CN 14 61263006 61263006 single base substitution G C missense_variant R54T 161G>C BLCA-CN 14 61263006 61263006 single base substitution G C upstream_gene_variant BLCA-US 14 61285476 61285476 single base substitution C T exon_variant BLCA-US 14 61285476 61285476 single base substitution C T intron_variant BLCA-US 14 61285476 61285476 single base substitution C T stop_gained Q200* 598C>T BLCA-US 14 61285476 61285476 single base substitution C T stop_gained Q60* 178C>T BLCA-US 14 61285476 61285476 single base substitution C T stop_gained Q95* 283C>T BRCA-EU 14 61196488 61196488 single base substitution T C upstream_gene_variant BRCA-EU 14 61197248 61197248 single base substitution A G upstream_gene_variant BRCA-EU 14 61197347 61197347 single base substitution A G upstream_gene_variant BRCA-EU 14 61199535 61199535 single base substitution C G upstream_gene_variant BRCA-EU 14 61200554 61200554 single base substitution C G upstream_gene_variant BRCA-EU 14 61200701 61200701 single base substitution C A upstream_gene_variant BRCA-EU 14 61201746 61201746 single base substitution C A intron_variant BRCA-EU 14 61204453 61204453 single base substitution C T intron_variant BRCA-EU 14 61206557 61206557 single base substitution C T intron_variant BRCA-EU 14 61206754 61206754 single base substitution C T intron_variant BRCA-EU 14 61206873 61206873 deletion of <=200bp A - intron_variant BRCA-EU 14 61207052 61207052 single base substitution C G intron_variant BRCA-EU 14 61207338 61207338 single base substitution C T intron_variant BRCA-EU 14 61207460 61207460 single base substitution C G intron_variant BRCA-EU 14 61208978 61208978 deletion of <=200bp T - intron_variant BRCA-EU 14 61212139 61212139 single base substitution C T intron_variant BRCA-EU 14 61212999 61212999 single base substitution C T intron_variant BRCA-EU 14 61213322 61213322 deletion of <=200bp T - intron_variant BRCA-EU 14 61215541 61215541 single base substitution T A intron_variant BRCA-EU 14 61216239 61216239 single base substitution A G intron_variant BRCA-EU 14 61217365 61217365 single base substitution A T intron_variant BRCA-EU 14 61217900 61217900 deletion of <=200bp T - intron_variant BRCA-EU 14 61217984 61217984 deletion of <=200bp T - intron_variant BRCA-EU 14 61218613 61218613 single base substitution C G intron_variant BRCA-EU 14 61218862 61218862 deletion of <=200bp A - intron_variant BRCA-EU 14 61219265 61219265 single base substitution C T intron_variant BRCA-EU 14 61219858 61219858 single base substitution C A intron_variant BRCA-EU 14 61220268 61220268 single base substitution C A intron_variant BRCA-EU 14 61220349 61220349 single base substitution C T exon_variant BRCA-EU 14 61220349 61220349 single base substitution C T intron_variant BRCA-EU 14 61220736 61220736 single base substitution G C downstream_gene_variant BRCA-EU 14 61220736 61220736 single base substitution G C intron_variant BRCA-EU 14 61221432 61221432 single base substitution C T downstream_gene_variant BRCA-EU 14 61221432 61221432 single base substitution C T intron_variant BRCA-EU 14 61221752 61221752 single base substitution C G downstream_gene_variant BRCA-EU 14 61221752 61221752 single base substitution C G intron_variant BRCA-EU 14 61222767 61222767 single base substitution C T downstream_gene_variant BRCA-EU 14 61222767 61222767 single base substitution C T intron_variant BRCA-EU 14 61222788 61222788 single base substitution G T downstream_gene_variant BRCA-EU 14 61222788 61222788 single base substitution G T intron_variant BRCA-EU 14 61223418 61223418 single base substitution T C downstream_gene_variant BRCA-EU 14 61223418 61223418 single base substitution T C intron_variant BRCA-EU 14 61224572 61224572 deletion of <=200bp C - downstream_gene_variant BRCA-EU 14 61224572 61224572 deletion of <=200bp C - intron_variant BRCA-EU 14 61225316 61225316 insertion of <=200bp - A downstream_gene_variant BRCA-EU 14 61225316 61225316 insertion of <=200bp - A intron_variant BRCA-EU 14 61225325 61225325 deletion of <=200bp C - downstream_gene_variant BRCA-EU 14 61225325 61225325 deletion of <=200bp C - intron_variant BRCA-EU 14 61226190 61226190 single base substitution T C intron_variant BRCA-EU 14 61227746 61227746 deletion of <=200bp T - intron_variant BRCA-EU 14 61227896 61227896 deletion of <=200bp T - intron_variant BRCA-EU 14 61227906 61227906 single base substitution C T intron_variant BRCA-EU 14 61229096 61229096 single base substitution G A intron_variant BRCA-EU 14 61231269 61231269 single base substitution G T intron_variant BRCA-EU 14 61232709 61232709 single base substitution C A intron_variant BRCA-EU 14 61232818 61232818 single base substitution C T intron_variant BRCA-EU 14 61234648 61234648 single base substitution A T intron_variant BRCA-EU 14 61236641 61236641 single base substitution C G intron_variant BRCA-EU 14 61238002 61238002 single base substitution A T intron_variant BRCA-EU 14 61238050 61238050 single base substitution C T intron_variant BRCA-EU 14 61239787 61239795 deletion of <=200bp CTGGGATTA - intron_variant BRCA-EU 14 61240497 61240497 single base substitution G A intron_variant BRCA-EU 14 61241524 61241524 single base substitution G T intron_variant BRCA-EU 14 61241866 61241866 single base substitution G C intron_variant BRCA-EU 14 61242395 61242395 insertion of <=200bp - T intron_variant BRCA-EU 14 61243058 61243058 insertion of <=200bp - AG intron_variant BRCA-EU 14 61243063 61243063 single base substitution G T intron_variant BRCA-EU 14 61243272 61243272 single base substitution A C intron_variant BRCA-EU 14 61244523 61244523 single base substitution C G intron_variant BRCA-EU 14 61245085 61245085 single base substitution C A intron_variant BRCA-EU 14 61246565 61246565 single base substitution C G intron_variant BRCA-EU 14 61247067 61247067 single base substitution T C intron_variant BRCA-EU 14 61247088 61247088 single base substitution C G intron_variant BRCA-EU 14 61247109 61247109 single base substitution A G intron_variant BRCA-EU 14 61247963 61248006 deletion of <=200bp TGAGGAAATAAGTTTGTTAAAAACAAAAAAAGAAGCAAGTGGAT - intron_variant BRCA-EU 14 61248345 61248345 single base substitution C T intron_variant BRCA-EU 14 61250128 61250128 single base substitution T A intron_variant BRCA-EU 14 61251687 61251687 single base substitution C G intron_variant BRCA-EU 14 61252720 61252720 single base substitution T C intron_variant BRCA-EU 14 61252948 61252948 single base substitution C G intron_variant BRCA-EU 14 61256246 61256246 single base substitution C T intron_variant BRCA-EU 14 61256434 61256434 single base substitution G A intron_variant BRCA-EU 14 61258168 61258168 single base substitution C G intron_variant BRCA-EU 14 61258168 61258168 single base substitution C G upstream_gene_variant BRCA-EU 14 61258392 61258392 single base substitution T G intron_variant BRCA-EU 14 61258392 61258392 single base substitution T G upstream_gene_variant BRCA-EU 14 61261507 61261507 single base substitution C A intron_variant BRCA-EU 14 61261507 61261507 single base substitution C A upstream_gene_variant BRCA-EU 14 61263003 61263003 single base substitution T A exon_variant BRCA-EU 14 61263003 61263003 single base substitution T A intron_variant BRCA-EU 14 61263003 61263003 single base substitution T A missense_variant L53H 158T>A BRCA-EU 14 61263003 61263003 single base substitution T A upstream_gene_variant BRCA-EU 14 61263205 61263205 single base substitution C T intron_variant BRCA-EU 14 61263331 61263331 single base substitution T C intron_variant BRCA-EU 14 61263406 61263406 single base substitution G C intron_variant BRCA-EU 14 61263457 61263457 single base substitution G A intron_variant BRCA-EU 14 61266766 61266766 single base substitution A G intron_variant BRCA-EU 14 61266948 61266948 single base substitution C T intron_variant BRCA-EU 14 61267784 61267784 single base substitution C A intron_variant BRCA-EU 14 61273793 61273793 single base substitution C G intron_variant BRCA-EU 14 61273793 61273793 single base substitution C G upstream_gene_variant BRCA-EU 14 61273821 61273821 single base substitution G A intron_variant BRCA-EU 14 61273821 61273821 single base substitution G A upstream_gene_variant BRCA-EU 14 61273891 61273891 single base substitution G C intron_variant BRCA-EU 14 61273891 61273891 single base substitution G C upstream_gene_variant BRCA-EU 14 61275150 61275150 single base substitution G A downstream_gene_variant BRCA-EU 14 61275150 61275150 single base substitution G A exon_variant BRCA-EU 14 61275150 61275150 single base substitution G A intron_variant BRCA-EU 14 61275150 61275150 single base substitution G A splice_region_variant BRCA-EU 14 61275150 61275150 single base substitution G A upstream_gene_variant BRCA-EU 14 61275733 61275733 single base substitution G A downstream_gene_variant BRCA-EU 14 61275733 61275733 single base substitution G A exon_variant BRCA-EU 14 61275733 61275733 single base substitution G A intron_variant BRCA-EU 14 61275733 61275733 single base substitution G A upstream_gene_variant BRCA-EU 14 61276639 61276639 single base substitution G C downstream_gene_variant BRCA-EU 14 61276639 61276639 single base substitution G C intron_variant BRCA-EU 14 61276639 61276639 single base substitution G C upstream_gene_variant BRCA-EU 14 61278708 61278708 single base substitution C T downstream_gene_variant BRCA-EU 14 61278708 61278708 single base substitution C T exon_variant BRCA-EU 14 61278708 61278708 single base substitution C T stop_gained R142* 424C>T BRCA-EU 14 61278708 61278708 single base substitution C T stop_gained R2* 4C>T BRCA-EU 14 61278708 61278708 single base substitution C T stop_gained R37* 109C>T BRCA-EU 14 61279285 61279289 deletion of <=200bp TGTTT - downstream_gene_variant BRCA-EU 14 61279285 61279289 deletion of <=200bp TGTTT - intron_variant BRCA-EU 14 61282608 61282608 single base substitution C T intron_variant BRCA-EU 14 61282713 61282713 single base substitution A G intron_variant BRCA-EU 14 61283093 61283093 single base substitution T C intron_variant BRCA-EU 14 61283586 61283586 single base substitution T A intron_variant BRCA-EU 14 61283711 61283711 deletion of <=200bp T - intron_variant BRCA-EU 14 61283761 61283761 single base substitution A G intron_variant BRCA-EU 14 61286296 61286296 single base substitution C A downstream_gene_variant BRCA-EU 14 61286296 61286296 single base substitution C A intron_variant BRCA-EU 14 61288514 61288514 single base substitution T A downstream_gene_variant BRCA-EU 14 61288514 61288514 single base substitution T A intron_variant BRCA-EU 14 61289488 61289488 single base substitution T A downstream_gene_variant BRCA-EU 14 61289488 61289488 single base substitution T A intron_variant BRCA-EU 14 61293285 61293285 single base substitution C T intron_variant BRCA-EU 14 61293687 61293687 single base substitution C A intron_variant BRCA-EU 14 61295052 61295052 single base substitution G A intron_variant BRCA-EU 14 61295435 61295435 single base substitution C T intron_variant BRCA-EU 14 61295507 61295507 single base substitution C T intron_variant BRCA-EU 14 61296315 61296315 single base substitution G A intron_variant BRCA-EU 14 61298224 61298224 single base substitution C G intron_variant BRCA-EU 14 61298728 61298728 single base substitution C G intron_variant BRCA-EU 14 61299392 61299392 single base substitution G C intron_variant BRCA-EU 14 61299809 61299809 single base substitution G A intron_variant BRCA-EU 14 61303705 61303705 single base substitution A G intron_variant BRCA-EU 14 61304581 61304581 single base substitution T C intron_variant BRCA-EU 14 61306833 61306833 single base substitution T G intron_variant BRCA-EU 14 61307585 61307585 single base substitution A G intron_variant BRCA-EU 14 61307984 61307984 single base substitution T C intron_variant BRCA-EU 14 61307985 61307985 single base substitution C G intron_variant BRCA-EU 14 61308485 61308485 single base substitution C T intron_variant BRCA-EU 14 61308867 61308867 single base substitution C A intron_variant BRCA-EU 14 61310111 61310111 single base substitution C A intron_variant BRCA-EU 14 61311545 61311545 single base substitution G T intron_variant BRCA-EU 14 61312246 61312246 single base substitution G A intron_variant BRCA-EU 14 61313109 61313109 single base substitution T A intron_variant BRCA-EU 14 61313139 61313139 single base substitution G A intron_variant BRCA-EU 14 61313479 61313479 single base substitution C G intron_variant BRCA-EU 14 61313954 61313954 single base substitution C G intron_variant BRCA-EU 14 61315967 61315967 single base substitution C G intron_variant BRCA-EU 14 61316114 61316114 single base substitution A T intron_variant BRCA-EU 14 61316410 61316410 single base substitution G C intron_variant BRCA-EU 14 61316806 61316806 single base substitution C T intron_variant BRCA-EU 14 61316876 61316876 single base substitution G T intron_variant BRCA-EU 14 61317870 61317870 single base substitution G C intron_variant BRCA-EU 14 61318274 61318274 single base substitution A T intron_variant BRCA-EU 14 61318429 61318429 single base substitution C T intron_variant BRCA-EU 14 61319318 61319318 single base substitution T A intron_variant BRCA-EU 14 61319834 61319835 deletion of <=200bp CT - intron_variant BRCA-EU 14 61320103 61320103 single base substitution T A intron_variant BRCA-EU 14 61323311 61323311 single base substitution G A intron_variant BRCA-EU 14 61324539 61324539 single base substitution G A intron_variant BRCA-EU 14 61326150 61326150 single base substitution C T intron_variant BRCA-EU 14 61326381 61326381 deletion of <=200bp T - intron_variant BRCA-EU 14 61327917 61327917 single base substitution T G intron_variant BRCA-EU 14 61328352 61328352 single base substitution G C intron_variant BRCA-EU 14 61328663 61328663 single base substitution C T intron_variant BRCA-EU 14 61331435 61331435 single base substitution C T intron_variant BRCA-EU 14 61333357 61333357 insertion of <=200bp - TAAT intron_variant BRCA-EU 14 61333540 61333540 single base substitution A G intron_variant BRCA-EU 14 61334230 61334230 single base substitution G T intron_variant BRCA-EU 14 61334630 61334630 single base substitution C G intron_variant BRCA-EU 14 61335174 61335174 single base substitution T G intron_variant BRCA-EU 14 61337601 61337601 single base substitution C G intron_variant BRCA-EU 14 61340694 61340694 single base substitution G A intron_variant BRCA-EU 14 61343161 61343161 single base substitution T G intron_variant BRCA-EU 14 61343315 61343315 single base substitution C T intron_variant BRCA-EU 14 61343615 61343615 single base substitution G C intron_variant BRCA-EU 14 61344123 61344123 single base substitution A G intron_variant BRCA-EU 14 61344281 61344281 single base substitution T A intron_variant BRCA-EU 14 61344954 61344954 single base substitution A T intron_variant BRCA-EU 14 61346121 61346121 single base substitution T G intron_variant BRCA-EU 14 61346171 61346171 single base substitution C T intron_variant BRCA-EU 14 61347670 61347670 single base substitution A T downstream_gene_variant BRCA-EU 14 61347670 61347670 single base substitution A T intron_variant BRCA-EU 14 61349130 61349130 single base substitution G A downstream_gene_variant BRCA-EU 14 61349130 61349130 single base substitution G A intron_variant BRCA-EU 14 61349514 61349514 single base substitution C T downstream_gene_variant BRCA-EU 14 61349514 61349514 single base substitution C T intron_variant BRCA-EU 14 61351111 61351118 deletion of <=200bp TGTATTCC - downstream_gene_variant BRCA-EU 14 61351111 61351118 deletion of <=200bp TGTATTCC - intron_variant BRCA-EU 14 61351987 61351987 single base substitution T C intron_variant BRCA-EU 14 61352913 61352913 single base substitution T A intron_variant BRCA-EU 14 61353656 61353656 single base substitution T C intron_variant BRCA-EU 14 61353666 61353666 single base substitution C G intron_variant BRCA-EU 14 61353687 61353687 single base substitution C G intron_variant BRCA-EU 14 61355833 61355833 single base substitution G A intron_variant BRCA-EU 14 61356910 61356910 single base substitution G A intron_variant BRCA-EU 14 61356923 61356923 single base substitution T A intron_variant BRCA-EU 14 61358195 61358195 single base substitution C G intron_variant BRCA-EU 14 61358673 61358673 single base substitution C G intron_variant BRCA-EU 14 61359124 61359124 single base substitution C T intron_variant BRCA-EU 14 61359671 61359671 single base substitution T A intron_variant BRCA-EU 14 61359859 61359859 single base substitution T A intron_variant BRCA-EU 14 61362584 61362584 deletion of <=200bp T - intron_variant BRCA-EU 14 61363613 61363613 single base substitution G C intron_variant BRCA-EU 14 61363644 61363644 single base substitution C T intron_variant BRCA-EU 14 61364747 61364747 single base substitution C T intron_variant BRCA-EU 14 61365685 61365685 single base substitution C G intron_variant BRCA-EU 14 61365810 61365810 single base substitution C G intron_variant BRCA-EU 14 61366428 61366428 single base substitution C G intron_variant BRCA-EU 14 61369674 61369674 single base substitution T A intron_variant BRCA-EU 14 61371090 61371090 deletion of <=200bp T - intron_variant BRCA-EU 14 61371535 61371535 single base substitution A C intron_variant BRCA-EU 14 61371944 61371944 single base substitution A T intron_variant BRCA-EU 14 61371963 61371964 deletion of <=200bp TC - intron_variant BRCA-EU 14 61372868 61372868 single base substitution G A intron_variant BRCA-EU 14 61373769 61373769 single base substitution C T intron_variant BRCA-EU 14 61374347 61374347 single base substitution A G intron_variant BRCA-EU 14 61375635 61375635 single base substitution G A intron_variant BRCA-EU 14 61375680 61375680 single base substitution C G intron_variant BRCA-EU 14 61376070 61376070 single base substitution C G intron_variant BRCA-EU 14 61376218 61376218 single base substitution A G intron_variant BRCA-EU 14 61376726 61376726 single base substitution G T intron_variant BRCA-EU 14 61377006 61377006 single base substitution C T intron_variant BRCA-EU 14 61377712 61377712 single base substitution A G intron_variant BRCA-EU 14 61378131 61378131 single base substitution G C intron_variant BRCA-EU 14 61378817 61378817 single base substitution C G intron_variant BRCA-EU 14 61378922 61378922 single base substitution C A intron_variant BRCA-EU 14 61380727 61380727 single base substitution C G intron_variant BRCA-EU 14 61380788 61380788 single base substitution C G intron_variant BRCA-EU 14 61380870 61380870 single base substitution C G intron_variant BRCA-EU 14 61381170 61381170 single base substitution C T intron_variant BRCA-EU 14 61381548 61381548 single base substitution G T intron_variant BRCA-EU 14 61381766 61381766 single base substitution A G intron_variant BRCA-EU 14 61382331 61382331 single base substitution A G intron_variant BRCA-EU 14 61382541 61382541 single base substitution C T intron_variant BRCA-EU 14 61382713 61382713 single base substitution A G intron_variant BRCA-EU 14 61383118 61383118 single base substitution A G intron_variant BRCA-EU 14 61384152 61384152 single base substitution G A intron_variant BRCA-EU 14 61384227 61384227 single base substitution C T intron_variant BRCA-EU 14 61385650 61385650 single base substitution G T intron_variant BRCA-EU 14 61387585 61387585 single base substitution G C intron_variant BRCA-EU 14 61389871 61389871 single base substitution G T intron_variant BRCA-EU 14 61390852 61390852 single base substitution T G intron_variant BRCA-EU 14 61391476 61391493 deletion of <=200bp GGGTGAGTGAGGGCAAAA - intron_variant BRCA-EU 14 61391521 61391521 single base substitution T C intron_variant BRCA-EU 14 61395452 61395452 single base substitution G C intron_variant BRCA-EU 14 61395852 61395852 single base substitution G A intron_variant BRCA-EU 14 61396376 61396376 single base substitution G C intron_variant BRCA-EU 14 61398578 61398578 insertion of <=200bp - TA intron_variant BRCA-EU 14 61402823 61402823 single base substitution C T intron_variant BRCA-EU 14 61403321 61403321 single base substitution A G intron_variant BRCA-EU 14 61404465 61404465 insertion of <=200bp - T intron_variant BRCA-EU 14 61404920 61404920 single base substitution A G intron_variant BRCA-EU 14 61405052 61405052 single base substitution G C intron_variant BRCA-EU 14 61405071 61405071 single base substitution G T intron_variant BRCA-EU 14 61405575 61405575 single base substitution G T intron_variant BRCA-EU 14 61407138 61407140 deletion of <=200bp TTG - intron_variant BRCA-EU 14 61407150 61407150 deletion of <=200bp T - intron_variant BRCA-EU 14 61409084 61409084 single base substitution G A intron_variant BRCA-EU 14 61411157 61411157 single base substitution G A intron_variant BRCA-EU 14 61411284 61411284 single base substitution G C intron_variant BRCA-EU 14 61412177 61412177 single base substitution A T intron_variant BRCA-EU 14 61412178 61412178 single base substitution C A intron_variant BRCA-EU 14 61413456 61413456 single base substitution C T intron_variant BRCA-EU 14 61415396 61415396 single base substitution C T intron_variant BRCA-EU 14 61416190 61416190 single base substitution T C intron_variant BRCA-EU 14 61418507 61418507 deletion of <=200bp T - intron_variant BRCA-EU 14 61418877 61418877 single base substitution G C intron_variant BRCA-EU 14 61421407 61421407 single base substitution G C intron_variant BRCA-EU 14 61421409 61421409 single base substitution C A intron_variant BRCA-EU 14 61422213 61422213 single base substitution C G intron_variant BRCA-EU 14 61422993 61422993 single base substitution G A intron_variant BRCA-EU 14 61424061 61424061 single base substitution C G intron_variant BRCA-EU 14 61425151 61425151 single base substitution G C intron_variant BRCA-EU 14 61427751 61427751 single base substitution G A intron_variant BRCA-EU 14 61432277 61432277 single base substitution C G intron_variant BRCA-EU 14 61434340 61434340 single base substitution C G intron_variant BRCA-EU 14 61439983 61439983 single base substitution G C downstream_gene_variant BRCA-EU 14 61440405 61440405 single base substitution A G downstream_gene_variant BRCA-EU 14 61440846 61440846 single base substitution T G downstream_gene_variant BRCA-EU 14 61441506 61441506 single base substitution G T downstream_gene_variant BRCA-EU 14 61441594 61441594 single base substitution T G downstream_gene_variant BRCA-FR 14 61200554 61200554 single base substitution C G upstream_gene_variant BRCA-FR 14 61200701 61200701 single base substitution C A upstream_gene_variant BRCA-FR 14 61201544 61201544 single base substitution A T 5_prime_UTR_variant BRCA-FR 14 61201544 61201544 single base substitution A T exon_variant BRCA-FR 14 61212999 61212999 single base substitution C T intron_variant BRCA-FR 14 61215541 61215541 single base substitution T A intron_variant BRCA-FR 14 61217365 61217365 single base substitution A T intron_variant BRCA-FR 14 61219858 61219858 single base substitution C A intron_variant BRCA-FR 14 61220268 61220268 single base substitution C A intron_variant BRCA-FR 14 61220381 61220381 single base substitution C G exon_variant BRCA-FR 14 61220381 61220381 single base substitution C G intron_variant BRCA-FR 14 61220736 61220736 single base substitution G C downstream_gene_variant BRCA-FR 14 61220736 61220736 single base substitution G C intron_variant BRCA-FR 14 61222788 61222788 single base substitution G T downstream_gene_variant BRCA-FR 14 61222788 61222788 single base substitution G T intron_variant BRCA-FR 14 61241866 61241866 single base substitution G C intron_variant BRCA-FR 14 61243272 61243272 single base substitution A C intron_variant BRCA-FR 14 61246565 61246565 single base substitution C G intron_variant BRCA-FR 14 61251687 61251687 single base substitution C G intron_variant BRCA-FR 14 61257194 61257194 single base substitution C G intron_variant BRCA-FR 14 61266948 61266948 single base substitution C T intron_variant BRCA-FR 14 61269689 61269689 single base substitution C T intron_variant BRCA-FR 14 61293285 61293285 single base substitution C T intron_variant BRCA-FR 14 61298728 61298728 single base substitution C G intron_variant BRCA-FR 14 61304192 61304192 single base substitution G A intron_variant BRCA-FR 14 61313109 61313109 single base substitution T A intron_variant BRCA-FR 14 61316876 61316876 single base substitution G T intron_variant BRCA-FR 14 61319081 61319081 single base substitution C T intron_variant BRCA-FR 14 61320132 61320132 single base substitution G A intron_variant BRCA-FR 14 61358195 61358195 single base substitution C G intron_variant BRCA-FR 14 61363613 61363613 single base substitution G C intron_variant BRCA-FR 14 61371944 61371944 single base substitution A T intron_variant BRCA-FR 14 61378817 61378817 single base substitution C G intron_variant BRCA-FR 14 61378922 61378922 single base substitution C A intron_variant BRCA-FR 14 61395988 61395988 single base substitution T C intron_variant BRCA-FR 14 61405575 61405575 single base substitution G T intron_variant BRCA-FR 14 61415396 61415396 single base substitution C T intron_variant BRCA-FR 14 61416054 61416054 single base substitution C G intron_variant BRCA-FR 14 61416190 61416190 single base substitution T C intron_variant BRCA-FR 14 61421407 61421407 single base substitution G C intron_variant BRCA-FR 14 61421568 61421568 single base substitution G A intron_variant BRCA-FR 14 61425151 61425151 single base substitution G C intron_variant BRCA-FR 14 61434340 61434340 single base substitution C G intron_variant BRCA-FR 14 61441506 61441506 single base substitution G T downstream_gene_variant BRCA-FR 14 61441594 61441594 single base substitution T G downstream_gene_variant BRCA-UK 14 61215450 61215450 single base substitution C T intron_variant BRCA-UK 14 61271460 61271460 single base substitution C T intron_variant BRCA-UK 14 61271460 61271460 single base substitution C T upstream_gene_variant BRCA-UK 14 61271690 61271690 single base substitution C G intron_variant BRCA-UK 14 61271690 61271690 single base substitution C G upstream_gene_variant BRCA-UK 14 61346121 61346121 single base substitution T G intron_variant BRCA-UK 14 61346171 61346171 single base substitution C T intron_variant BRCA-UK 14 61402823 61402823 single base substitution C T intron_variant BRCA-UK 14 61411284 61411284 single base substitution G C intron_variant BRCA-UK 14 61414749 61414749 single base substitution C G intron_variant BRCA-US 14 61285489 61285489 single base substitution G C exon_variant BRCA-US 14 61285489 61285489 single base substitution G C intron_variant BRCA-US 14 61285489 61285489 single base substitution G C missense_variant R204T 611G>C BRCA-US 14 61285489 61285489 single base substitution G C missense_variant R64T 191G>C BRCA-US 14 61285489 61285489 single base substitution G C missense_variant R99T 296G>C BRCA-US 14 61434964 61434964 single base substitution G C intron_variant BRCA-US 14 61434964 61434964 single base substitution G C missense_variant R136T 407G>C BRCA-US 14 61434964 61434964 single base substitution G C missense_variant R234T 701G>C BRCA-US 14 61434964 61434964 single base substitution G C missense_variant R276T 827G>C BTCA-JP 14 61275135 61275135 single base substitution A G exon_variant BTCA-JP 14 61275135 61275135 single base substitution A G missense_variant K137E 409A>G BTCA-JP 14 61275135 61275135 single base substitution A G missense_variant K32E 94A>G BTCA-JP 14 61275135 61275135 single base substitution A G upstream_gene_variant BTCA-JP 14 61278771 61278771 single base substitution T C downstream_gene_variant BTCA-JP 14 61278771 61278771 single base substitution T C exon_variant BTCA-JP 14 61278771 61278771 single base substitution T C synonymous_variant L163L 487T>C BTCA-JP 14 61278771 61278771 single base substitution T C synonymous_variant L23L 67T>C BTCA-JP 14 61278771 61278771 single base substitution T C synonymous_variant L58L 172T>C CLLE-ES 14 61197442 61197442 single base substitution G A upstream_gene_variant CLLE-ES 14 61208153 61208153 single base substitution C T intron_variant CLLE-ES 14 61212119 61212119 single base substitution A G intron_variant CLLE-ES 14 61227316 61227316 single base substitution A G intron_variant CLLE-ES 14 61239969 61239969 single base substitution A G intron_variant CLLE-ES 14 61243584 61243584 single base substitution A T intron_variant CLLE-ES 14 61252572 61252572 single base substitution A G intron_variant CLLE-ES 14 61296067 61296067 single base substitution A T intron_variant CLLE-ES 14 61299019 61299019 single base substitution A G intron_variant CLLE-ES 14 61306081 61306081 single base substitution G T intron_variant CLLE-ES 14 61315174 61315174 single base substitution T C intron_variant CLLE-ES 14 61331989 61331989 single base substitution A C intron_variant CLLE-ES 14 61336859 61336859 single base substitution C G intron_variant CLLE-ES 14 61350277 61350277 single base substitution T A downstream_gene_variant CLLE-ES 14 61350277 61350277 single base substitution T A intron_variant CLLE-ES 14 61421065 61421065 single base substitution C T intron_variant COAD-US 14 61275148 61275148 single base substitution T C downstream_gene_variant COAD-US 14 61275148 61275148 single base substitution T C exon_variant COAD-US 14 61275148 61275148 single base substitution T C splice_donor_variant COAD-US 14 61275148 61275148 single base substitution T C upstream_gene_variant COAD-US 14 61278823 61278823 single base substitution A C downstream_gene_variant COAD-US 14 61278823 61278823 single base substitution A C exon_variant COAD-US 14 61278823 61278823 single base substitution A C missense_variant K180T 539A>C COAD-US 14 61278823 61278823 single base substitution A C missense_variant K40T 119A>C COAD-US 14 61278823 61278823 single base substitution A C missense_variant K75T 224A>C COCA-CN 14 61278632 61278632 single base substitution G T downstream_gene_variant COCA-CN 14 61278632 61278632 single base substitution G T intron_variant COCA-CN 14 61278632 61278632 single base substitution G T upstream_gene_variant COCA-CN 14 61278661 61278661 single base substitution G T downstream_gene_variant COCA-CN 14 61278661 61278661 single base substitution G T intron_variant COCA-CN 14 61278661 61278661 single base substitution G T upstream_gene_variant COCA-CN 14 61278681 61278681 single base substitution G A downstream_gene_variant COCA-CN 14 61278681 61278681 single base substitution G A intron_variant COCA-CN 14 61278681 61278681 single base substitution G A upstream_gene_variant COCA-CN 14 61278709 61278709 single base substitution G A downstream_gene_variant COCA-CN 14 61278709 61278709 single base substitution G A exon_variant COCA-CN 14 61278709 61278709 single base substitution G A missense_variant R142Q 425G>A COCA-CN 14 61278709 61278709 single base substitution G A missense_variant R2Q 5G>A COCA-CN 14 61278709 61278709 single base substitution G A missense_variant R37Q 110G>A COCA-CN 14 61279971 61279971 single base substitution C T downstream_gene_variant COCA-CN 14 61279971 61279971 single base substitution C T intron_variant COCA-CN 14 61405750 61405750 single base substitution A T intron_variant COCA-CN 14 61405757 61405757 single base substitution T A intron_variant COCA-CN 14 61405759 61405759 single base substitution T C intron_variant COCA-CN 14 61405793 61405793 single base substitution G A intron_variant COCA-CN 14 61405799 61405799 single base substitution C T intron_variant COCA-CN 14 61439118 61439118 single base substitution T C downstream_gene_variant COCA-CN 14 61439135 61439135 single base substitution A C downstream_gene_variant COCA-CN 14 61439137 61439137 single base substitution C T downstream_gene_variant COCA-CN 14 61439149 61439149 single base substitution T C downstream_gene_variant EOPC-DE 14 61232997 61232997 single base substitution G A intron_variant EOPC-DE 14 61278977 61278977 single base substitution T C downstream_gene_variant EOPC-DE 14 61278977 61278977 single base substitution T C intron_variant EOPC-DE 14 61284321 61284321 single base substitution C G intron_variant EOPC-DE 14 61371660 61371660 single base substitution T G intron_variant EOPC-DE 14 61394385 61394385 single base substitution C T intron_variant EOPC-DE 14 61431611 61431611 single base substitution C T intron_variant ESAD-UK 14 61196496 61196496 single base substitution G A upstream_gene_variant ESAD-UK 14 61196644 61196644 single base substitution A C upstream_gene_variant ESAD-UK 14 61196658 61196658 single base substitution G C upstream_gene_variant ESAD-UK 14 61198325 61198325 single base substitution T C upstream_gene_variant ESAD-UK 14 61204733 61204733 single base substitution A T intron_variant ESAD-UK 14 61208672 61208672 single base substitution A C intron_variant ESAD-UK 14 61210046 61210046 single base substitution G A intron_variant ESAD-UK 14 61212389 61212389 single base substitution C A intron_variant ESAD-UK 14 61213182 61213182 single base substitution G C intron_variant ESAD-UK 14 61216262 61216263 deletion of <=200bp TT - intron_variant ESAD-UK 14 61216814 61216814 single base substitution G A intron_variant ESAD-UK 14 61218218 61218218 single base substitution G T intron_variant ESAD-UK 14 61218405 61218405 single base substitution A G intron_variant ESAD-UK 14 61221642 61221642 single base substitution C T downstream_gene_variant ESAD-UK 14 61221642 61221642 single base substitution C T intron_variant ESAD-UK 14 61222054 61222054 single base substitution G T downstream_gene_variant ESAD-UK 14 61222054 61222054 single base substitution G T intron_variant ESAD-UK 14 61226500 61226500 single base substitution T G intron_variant ESAD-UK 14 61228110 61228110 single base substitution C G intron_variant ESAD-UK 14 61228383 61228383 single base substitution G T intron_variant ESAD-UK 14 61228818 61228818 single base substitution T C intron_variant ESAD-UK 14 61229610 61229610 single base substitution A G intron_variant ESAD-UK 14 61232141 61232141 single base substitution A T intron_variant ESAD-UK 14 61232991 61232991 single base substitution G T intron_variant ESAD-UK 14 61236484 61236484 single base substitution C T intron_variant ESAD-UK 14 61237196 61237196 insertion of <=200bp - T intron_variant ESAD-UK 14 61238248 61238248 single base substitution T C intron_variant ESAD-UK 14 61238483 61238483 single base substitution T C intron_variant ESAD-UK 14 61240576 61240576 single base substitution C A intron_variant ESAD-UK 14 61241035 61241035 single base substitution G A intron_variant ESAD-UK 14 61241574 61241574 single base substitution A C intron_variant ESAD-UK 14 61242089 61242089 single base substitution C G intron_variant ESAD-UK 14 61242315 61242315 single base substitution A G intron_variant ESAD-UK 14 61244132 61244132 single base substitution G A intron_variant ESAD-UK 14 61247335 61247335 single base substitution T G intron_variant ESAD-UK 14 61247847 61247847 single base substitution G A intron_variant ESAD-UK 14 61250662 61250662 single base substitution T G intron_variant ESAD-UK 14 61250834 61250834 single base substitution C T intron_variant ESAD-UK 14 61252103 61252103 single base substitution T G intron_variant ESAD-UK 14 61253516 61253516 single base substitution T G intron_variant ESAD-UK 14 61254666 61254678 deletion of <=200bp ATGTTAATATTTT - intron_variant ESAD-UK 14 61261579 61261579 single base substitution C A intron_variant ESAD-UK 14 61261579 61261579 single base substitution C A upstream_gene_variant ESAD-UK 14 61264648 61264648 single base substitution A T intron_variant ESAD-UK 14 61269494 61269494 single base substitution C T intron_variant ESAD-UK 14 61269774 61269774 single base substitution C T intron_variant ESAD-UK 14 61270352 61270352 insertion of <=200bp - T intron_variant ESAD-UK 14 61270352 61270352 insertion of <=200bp - T upstream_gene_variant ESAD-UK 14 61271627 61271627 single base substitution T A intron_variant ESAD-UK 14 61271627 61271627 single base substitution T A upstream_gene_variant ESAD-UK 14 61271961 61271961 deletion of <=200bp T - intron_variant ESAD-UK 14 61271961 61271961 deletion of <=200bp T - upstream_gene_variant ESAD-UK 14 61274783 61274783 single base substitution A G intron_variant ESAD-UK 14 61274783 61274783 single base substitution A G upstream_gene_variant ESAD-UK 14 61279362 61279362 single base substitution C T downstream_gene_variant ESAD-UK 14 61279362 61279362 single base substitution C T intron_variant ESAD-UK 14 61280204 61280204 single base substitution C G downstream_gene_variant ESAD-UK 14 61280204 61280204 single base substitution C G intron_variant ESAD-UK 14 61281199 61281199 insertion of <=200bp - TG intron_variant ESAD-UK 14 61281345 61281345 single base substitution G T intron_variant ESAD-UK 14 61283397 61283397 single base substitution G A intron_variant ESAD-UK 14 61286532 61286532 insertion of <=200bp - T downstream_gene_variant ESAD-UK 14 61286532 61286532 insertion of <=200bp - T intron_variant ESAD-UK 14 61289480 61289480 single base substitution T A downstream_gene_variant ESAD-UK 14 61289480 61289480 single base substitution T A intron_variant ESAD-UK 14 61293606 61293606 single base substitution T C intron_variant ESAD-UK 14 61294208 61294208 single base substitution T C intron_variant ESAD-UK 14 61294737 61294737 single base substitution T G intron_variant ESAD-UK 14 61295025 61295025 single base substitution C G intron_variant ESAD-UK 14 61300528 61300528 deletion of <=200bp T - intron_variant ESAD-UK 14 61300881 61300881 single base substitution C T intron_variant ESAD-UK 14 61302251 61302251 single base substitution G A intron_variant ESAD-UK 14 61303360 61303360 single base substitution C A intron_variant ESAD-UK 14 61305498 61305498 single base substitution C T intron_variant ESAD-UK 14 61306271 61306271 single base substitution A T intron_variant ESAD-UK 14 61307673 61307673 single base substitution G A intron_variant ESAD-UK 14 61308434 61308434 single base substitution G A intron_variant ESAD-UK 14 61308520 61308520 single base substitution G A intron_variant ESAD-UK 14 61308583 61308583 single base substitution G T intron_variant ESAD-UK 14 61308773 61308773 single base substitution G C intron_variant ESAD-UK 14 61308780 61308780 single base substitution G T intron_variant ESAD-UK 14 61308781 61308781 single base substitution G A intron_variant ESAD-UK 14 61309833 61309833 single base substitution C T intron_variant ESAD-UK 14 61312012 61312012 single base substitution C T intron_variant ESAD-UK 14 61313025 61313025 deletion of <=200bp T - intron_variant ESAD-UK 14 61315367 61315367 single base substitution C T intron_variant ESAD-UK 14 61316358 61316358 deletion of <=200bp T - intron_variant ESAD-UK 14 61316746 61316746 single base substitution G A intron_variant ESAD-UK 14 61317765 61317765 single base substitution T G intron_variant ESAD-UK 14 61317771 61317771 single base substitution G C intron_variant ESAD-UK 14 61319053 61319053 single base substitution G C intron_variant ESAD-UK 14 61319094 61319094 single base substitution T G intron_variant ESAD-UK 14 61320116 61320116 single base substitution A G intron_variant ESAD-UK 14 61320410 61320410 single base substitution T A intron_variant ESAD-UK 14 61320565 61320565 insertion of <=200bp - T intron_variant ESAD-UK 14 61320585 61320585 single base substitution G T intron_variant ESAD-UK 14 61320839 61320839 single base substitution G A intron_variant ESAD-UK 14 61321597 61321597 single base substitution C A intron_variant ESAD-UK 14 61321771 61321771 single base substitution T C intron_variant ESAD-UK 14 61321974 61321974 single base substitution G A intron_variant ESAD-UK 14 61323516 61323516 single base substitution A G intron_variant ESAD-UK 14 61323756 61323756 single base substitution G A intron_variant ESAD-UK 14 61323830 61323830 single base substitution G T intron_variant ESAD-UK 14 61323855 61323855 single base substitution G T intron_variant ESAD-UK 14 61324328 61324328 single base substitution A G intron_variant ESAD-UK 14 61324413 61324413 single base substitution G A intron_variant ESAD-UK 14 61324604 61324604 single base substitution C T intron_variant ESAD-UK 14 61325487 61325487 single base substitution A G intron_variant ESAD-UK 14 61327770 61327770 insertion of <=200bp - T intron_variant ESAD-UK 14 61328191 61328191 single base substitution T C intron_variant ESAD-UK 14 61328570 61328570 single base substitution A G intron_variant ESAD-UK 14 61328679 61328679 single base substitution G A intron_variant ESAD-UK 14 61329779 61329779 insertion of <=200bp - AAC intron_variant ESAD-UK 14 61333213 61333213 single base substitution T C intron_variant ESAD-UK 14 61335426 61335426 single base substitution G A intron_variant ESAD-UK 14 61335533 61335533 single base substitution G T intron_variant ESAD-UK 14 61336242 61336242 single base substitution A G intron_variant ESAD-UK 14 61336607 61336607 single base substitution T C intron_variant ESAD-UK 14 61337073 61337073 single base substitution A C intron_variant ESAD-UK 14 61337718 61337718 single base substitution G A intron_variant ESAD-UK 14 61338092 61338092 single base substitution C G intron_variant ESAD-UK 14 61339253 61339253 deletion of <=200bp C - intron_variant ESAD-UK 14 61339437 61339437 deletion of <=200bp T - intron_variant ESAD-UK 14 61339640 61339640 single base substitution T C intron_variant ESAD-UK 14 61341002 61341002 single base substitution C G intron_variant ESAD-UK 14 61341284 61341284 single base substitution G T intron_variant ESAD-UK 14 61341536 61341536 single base substitution T C intron_variant ESAD-UK 14 61343870 61343870 single base substitution G T intron_variant ESAD-UK 14 61344641 61344641 single base substitution A G intron_variant ESAD-UK 14 61348019 61348019 single base substitution C A downstream_gene_variant ESAD-UK 14 61348019 61348019 single base substitution C A intron_variant ESAD-UK 14 61349348 61349348 single base substitution C G downstream_gene_variant ESAD-UK 14 61349348 61349348 single base substitution C G intron_variant ESAD-UK 14 61350289 61350289 single base substitution T A downstream_gene_variant ESAD-UK 14 61350289 61350289 single base substitution T A intron_variant ESAD-UK 14 61350351 61350351 single base substitution A G downstream_gene_variant ESAD-UK 14 61350351 61350351 single base substitution A G intron_variant ESAD-UK 14 61350867 61350867 single base substitution C A downstream_gene_variant ESAD-UK 14 61350867 61350867 single base substitution C A intron_variant ESAD-UK 14 61352478 61352478 single base substitution T C intron_variant ESAD-UK 14 61352758 61352758 single base substitution T A intron_variant ESAD-UK 14 61352864 61352864 single base substitution A G intron_variant ESAD-UK 14 61353522 61353522 single base substitution G T intron_variant ESAD-UK 14 61353983 61353983 single base substitution T G intron_variant ESAD-UK 14 61357180 61357180 single base substitution G A intron_variant ESAD-UK 14 61357800 61357800 single base substitution A G intron_variant ESAD-UK 14 61357951 61357951 single base substitution T G intron_variant ESAD-UK 14 61358127 61358127 single base substitution T G intron_variant ESAD-UK 14 61359358 61359358 deletion of <=200bp T - intron_variant ESAD-UK 14 61359759 61359759 single base substitution A T intron_variant ESAD-UK 14 61359934 61359934 single base substitution C T intron_variant ESAD-UK 14 61363119 61363120 deletion of <=200bp AG - intron_variant ESAD-UK 14 61363850 61363850 single base substitution C T intron_variant ESAD-UK 14 61371901 61371901 single base substitution T C intron_variant ESAD-UK 14 61372191 61372191 single base substitution G A intron_variant ESAD-UK 14 61372453 61372453 single base substitution A G intron_variant ESAD-UK 14 61373710 61373710 single base substitution T C intron_variant ESAD-UK 14 61373710 61373710 single base substitution T G intron_variant ESAD-UK 14 61373743 61373743 single base substitution T G intron_variant ESAD-UK 14 61373851 61373851 single base substitution G C intron_variant ESAD-UK 14 61374213 61374213 single base substitution G C intron_variant ESAD-UK 14 61374944 61374944 single base substitution C A intron_variant ESAD-UK 14 61375633 61375633 single base substitution T A intron_variant ESAD-UK 14 61375885 61375885 single base substitution G T intron_variant ESAD-UK 14 61376383 61376383 single base substitution T C intron_variant ESAD-UK 14 61377306 61377306 insertion of <=200bp - T intron_variant ESAD-UK 14 61379371 61379371 single base substitution A G intron_variant ESAD-UK 14 61381207 61381207 single base substitution G C intron_variant ESAD-UK 14 61387885 61387885 single base substitution T A intron_variant ESAD-UK 14 61388257 61388257 single base substitution C T intron_variant ESAD-UK 14 61388792 61388792 single base substitution A G intron_variant ESAD-UK 14 61389128 61389128 single base substitution G A intron_variant ESAD-UK 14 61391794 61391794 single base substitution A C intron_variant ESAD-UK 14 61392740 61392740 single base substitution C T intron_variant ESAD-UK 14 61393120 61393120 single base substitution T G intron_variant ESAD-UK 14 61394110 61394110 single base substitution G A intron_variant ESAD-UK 14 61394333 61394333 single base substitution T C intron_variant ESAD-UK 14 61395453 61395453 single base substitution A T intron_variant ESAD-UK 14 61397307 61397307 single base substitution A G intron_variant ESAD-UK 14 61397915 61397915 single base substitution A G intron_variant ESAD-UK 14 61398577 61398577 single base substitution T A intron_variant ESAD-UK 14 61402412 61402412 single base substitution G A intron_variant ESAD-UK 14 61402771 61402771 single base substitution G C intron_variant ESAD-UK 14 61405357 61405357 deletion of <=200bp T - intron_variant ESAD-UK 14 61405391 61405391 single base substitution G C intron_variant ESAD-UK 14 61407167 61407167 single base substitution G A intron_variant ESAD-UK 14 61407968 61407968 single base substitution C T intron_variant ESAD-UK 14 61408988 61408988 single base substitution C A intron_variant ESAD-UK 14 61409859 61409859 single base substitution G A intron_variant ESAD-UK 14 61413256 61413256 single base substitution T G intron_variant ESAD-UK 14 61413646 61413646 single base substitution C T intron_variant ESAD-UK 14 61413789 61413789 single base substitution C G intron_variant ESAD-UK 14 61416132 61416132 insertion of <=200bp - G intron_variant ESAD-UK 14 61416718 61416718 single base substitution G T intron_variant ESAD-UK 14 61418699 61418699 single base substitution G A intron_variant ESAD-UK 14 61419190 61419190 single base substitution C G intron_variant ESAD-UK 14 61419651 61419651 single base substitution G A intron_variant ESAD-UK 14 61420620 61420620 single base substitution C T intron_variant ESAD-UK 14 61421735 61421735 single base substitution T G intron_variant ESAD-UK 14 61422329 61422329 single base substitution A T intron_variant ESAD-UK 14 61422903 61422903 single base substitution G A intron_variant ESAD-UK 14 61423450 61423450 single base substitution C G intron_variant ESAD-UK 14 61423868 61423868 single base substitution T G intron_variant ESAD-UK 14 61424503 61424503 single base substitution T C intron_variant ESAD-UK 14 61424571 61424571 single base substitution T G intron_variant ESAD-UK 14 61427888 61427888 single base substitution C T intron_variant ESAD-UK 14 61429703 61429703 insertion of <=200bp - T intron_variant ESAD-UK 14 61431938 61431938 single base substitution C T intron_variant ESAD-UK 14 61432004 61432004 single base substitution T C intron_variant ESAD-UK 14 61436557 61436557 single base substitution A T 3_prime_UTR_variant ESAD-UK 14 61436557 61436557 single base substitution A T downstream_gene_variant ESAD-UK 14 61437100 61437100 single base substitution A T downstream_gene_variant ESAD-UK 14 61440930 61440930 single base substitution T C downstream_gene_variant ESCA-CN 14 61227605 61227605 single base substitution G C intron_variant ESCA-CN 14 61439169 61439169 single base substitution T C downstream_gene_variant KIRP-US 14 61434959 61434959 single base substitution T C intron_variant KIRP-US 14 61434959 61434959 single base substitution T C synonymous_variant H134H 402T>C KIRP-US 14 61434959 61434959 single base substitution T C synonymous_variant H232H 696T>C KIRP-US 14 61434959 61434959 single base substitution T C synonymous_variant H274H 822T>C KIRP-US 14 61434986 61434986 single base substitution T C intron_variant KIRP-US 14 61434986 61434986 single base substitution T C synonymous_variant L143L 429T>C KIRP-US 14 61434986 61434986 single base substitution T C synonymous_variant L241L 723T>C KIRP-US 14 61434986 61434986 single base substitution T C synonymous_variant L283L 849T>C LAML-KR 14 61295263 61295263 single base substitution G T intron_variant LAML-KR 14 61327089 61327089 single base substitution G T intron_variant LAML-KR 14 61439118 61439118 single base substitution T C downstream_gene_variant LAML-KR 14 61439124 61439124 single base substitution A G downstream_gene_variant LICA-FR 14 61204972 61204974 deletion of <=200bp TTT - intron_variant LICA-FR 14 61214368 61214368 single base substitution C G intron_variant LICA-FR 14 61237054 61237054 single base substitution A T intron_variant LICA-FR 14 61243683 61243683 single base substitution A T intron_variant LICA-FR 14 61248693 61248693 insertion of <=200bp - T intron_variant LICA-FR 14 61293034 61293034 single base substitution T C intron_variant LICA-FR 14 61305328 61305328 single base substitution C G intron_variant LICA-FR 14 61317701 61317701 single base substitution A C intron_variant LICA-FR 14 61327067 61327067 single base substitution C T intron_variant LICA-FR 14 61327073 61327073 insertion of <=200bp - T intron_variant LICA-FR 14 61336701 61336701 single base substitution G A intron_variant LICA-FR 14 61340354 61340355 deletion of <=200bp TT - intron_variant LICA-FR 14 61354067 61354067 single base substitution A G intron_variant LICA-FR 14 61355090 61355090 single base substitution G T intron_variant LICA-FR 14 61377663 61377663 single base substitution A G intron_variant LICA-FR 14 61414112 61414112 single base substitution A T intron_variant LIHC-US 14 61275080 61275080 single base substitution C T exon_variant LIHC-US 14 61275080 61275080 single base substitution C T synonymous_variant T118T 354C>T LIHC-US 14 61275080 61275080 single base substitution C T synonymous_variant T13T 39C>T LIHC-US 14 61275080 61275080 single base substitution C T upstream_gene_variant LINC-JP 14 61222346 61222346 single base substitution T G downstream_gene_variant LINC-JP 14 61222346 61222346 single base substitution T G intron_variant LINC-JP 14 61227568 61227568 single base substitution T C intron_variant LINC-JP 14 61263233 61263233 single base substitution A G intron_variant LINC-JP 14 61273784 61273784 single base substitution C A intron_variant LINC-JP 14 61273784 61273784 single base substitution C A upstream_gene_variant LINC-JP 14 61275982 61275982 single base substitution A G downstream_gene_variant LINC-JP 14 61275982 61275982 single base substitution A G intron_variant LINC-JP 14 61275982 61275982 single base substitution A G upstream_gene_variant LINC-JP 14 61285293 61285293 single base substitution T G intron_variant LINC-JP 14 61285551 61285551 single base substitution A G exon_variant LINC-JP 14 61285551 61285551 single base substitution A G intron_variant LINC-JP 14 61285551 61285551 single base substitution A G missense_variant T120A 358A>G LINC-JP 14 61285551 61285551 single base substitution A G missense_variant T225A 673A>G LINC-JP 14 61285551 61285551 single base substitution A G missense_variant T85A 253A>G LINC-JP 14 61291467 61291467 single base substitution A G intron_variant LINC-JP 14 61293723 61293723 single base substitution G A intron_variant LINC-JP 14 61298519 61298519 single base substitution A G intron_variant LINC-JP 14 61306731 61306731 single base substitution A C intron_variant LINC-JP 14 61311822 61311822 single base substitution A T intron_variant LINC-JP 14 61314391 61314391 single base substitution A G intron_variant LINC-JP 14 61326309 61326309 single base substitution T C intron_variant LINC-JP 14 61369258 61369258 single base substitution A G intron_variant LINC-JP 14 61412237 61412237 single base substitution C T intron_variant LINC-JP 14 61438954 61438954 single base substitution G C downstream_gene_variant LIRI-JP 14 61196979 61196979 single base substitution G A upstream_gene_variant LIRI-JP 14 61196984 61196984 single base substitution A C upstream_gene_variant LIRI-JP 14 61198532 61198532 single base substitution T G upstream_gene_variant LIRI-JP 14 61199121 61199121 single base substitution G T upstream_gene_variant LIRI-JP 14 61199244 61199244 single base substitution A T upstream_gene_variant LIRI-JP 14 61200829 61200829 single base substitution C G upstream_gene_variant LIRI-JP 14 61203958 61203958 single base substitution A G intron_variant LIRI-JP 14 61204150 61204150 single base substitution T C intron_variant LIRI-JP 14 61205701 61205701 single base substitution T G intron_variant LIRI-JP 14 61207395 61207395 single base substitution A T intron_variant LIRI-JP 14 61208569 61208569 single base substitution A G intron_variant LIRI-JP 14 61208623 61208623 single base substitution A G intron_variant LIRI-JP 14 61210538 61210538 single base substitution A G intron_variant LIRI-JP 14 61212926 61212926 single base substitution A G intron_variant LIRI-JP 14 61213864 61213864 single base substitution G A intron_variant LIRI-JP 14 61213993 61213993 single base substitution C T intron_variant LIRI-JP 14 61216934 61216934 single base substitution C A intron_variant LIRI-JP 14 61217719 61217719 single base substitution A G intron_variant LIRI-JP 14 61217803 61217803 single base substitution C T intron_variant LIRI-JP 14 61217941 61217941 single base substitution A G intron_variant LIRI-JP 14 61220020 61220020 single base substitution A G intron_variant LIRI-JP 14 61220076 61220076 single base substitution A G intron_variant LIRI-JP 14 61221268 61221268 single base substitution C T downstream_gene_variant LIRI-JP 14 61221268 61221268 single base substitution C T intron_variant LIRI-JP 14 61222053 61222053 single base substitution G T downstream_gene_variant LIRI-JP 14 61222053 61222053 single base substitution G T intron_variant LIRI-JP 14 61224663 61224663 single base substitution A G downstream_gene_variant LIRI-JP 14 61224663 61224663 single base substitution A G intron_variant LIRI-JP 14 61228894 61228894 single base substitution G T intron_variant LIRI-JP 14 61229617 61229617 single base substitution A G intron_variant LIRI-JP 14 61230701 61230701 single base substitution C G intron_variant LIRI-JP 14 61231210 61231211 deletion of <=200bp TT - intron_variant LIRI-JP 14 61231250 61231251 deletion of <=200bp AA - intron_variant LIRI-JP 14 61231436 61231436 single base substitution G T intron_variant LIRI-JP 14 61231583 61231583 single base substitution A G intron_variant LIRI-JP 14 61232448 61232448 single base substitution G T intron_variant LIRI-JP 14 61233311 61233311 single base substitution T A intron_variant LIRI-JP 14 61235775 61235775 single base substitution G A intron_variant LIRI-JP 14 61236292 61236292 single base substitution G A intron_variant LIRI-JP 14 61240180 61240180 single base substitution A G intron_variant LIRI-JP 14 61242220 61242220 single base substitution T C intron_variant LIRI-JP 14 61244191 61244191 single base substitution A C intron_variant LIRI-JP 14 61246398 61246398 single base substitution G C intron_variant LIRI-JP 14 61248625 61248625 single base substitution A G intron_variant LIRI-JP 14 61251254 61251254 single base substitution A G intron_variant LIRI-JP 14 61252684 61252684 single base substitution A G intron_variant LIRI-JP 14 61253361 61253361 single base substitution A G intron_variant LIRI-JP 14 61254109 61254109 single base substitution G T intron_variant LIRI-JP 14 61255203 61255203 single base substitution C A intron_variant LIRI-JP 14 61256236 61256236 single base substitution T A intron_variant LIRI-JP 14 61257418 61257418 single base substitution T C intron_variant LIRI-JP 14 61259576 61259576 single base substitution G T intron_variant LIRI-JP 14 61259576 61259576 single base substitution G T upstream_gene_variant LIRI-JP 14 61260548 61260548 single base substitution A G intron_variant LIRI-JP 14 61260548 61260548 single base substitution A G upstream_gene_variant LIRI-JP 14 61272335 61272335 single base substitution T C intron_variant LIRI-JP 14 61272335 61272335 single base substitution T C upstream_gene_variant LIRI-JP 14 61272955 61272955 single base substitution A G intron_variant LIRI-JP 14 61272955 61272955 single base substitution A G upstream_gene_variant LIRI-JP 14 61273732 61273732 single base substitution A T intron_variant LIRI-JP 14 61273732 61273732 single base substitution A T upstream_gene_variant LIRI-JP 14 61274991 61274991 single base substitution C T intron_variant LIRI-JP 14 61274991 61274991 single base substitution C T upstream_gene_variant LIRI-JP 14 61275886 61275886 single base substitution A T downstream_gene_variant LIRI-JP 14 61275886 61275886 single base substitution A T intron_variant LIRI-JP 14 61275886 61275886 single base substitution A T upstream_gene_variant LIRI-JP 14 61276333 61276333 single base substitution G C downstream_gene_variant LIRI-JP 14 61276333 61276333 single base substitution G C intron_variant LIRI-JP 14 61276333 61276333 single base substitution G C upstream_gene_variant LIRI-JP 14 61278052 61278052 single base substitution G A downstream_gene_variant LIRI-JP 14 61278052 61278052 single base substitution G A intron_variant LIRI-JP 14 61278052 61278052 single base substitution G A upstream_gene_variant LIRI-JP 14 61278677 61278677 single base substitution C T downstream_gene_variant LIRI-JP 14 61278677 61278677 single base substitution C T intron_variant LIRI-JP 14 61278677 61278677 single base substitution C T upstream_gene_variant LIRI-JP 14 61283357 61283357 single base substitution A G intron_variant LIRI-JP 14 61288709 61288709 deletion of <=200bp C - downstream_gene_variant LIRI-JP 14 61288709 61288709 deletion of <=200bp C - intron_variant LIRI-JP 14 61289160 61289160 single base substitution T G downstream_gene_variant LIRI-JP 14 61289160 61289160 single base substitution T G intron_variant LIRI-JP 14 61293443 61293443 single base substitution A T intron_variant LIRI-JP 14 61293713 61293713 single base substitution G A intron_variant LIRI-JP 14 61294753 61294753 single base substitution A G intron_variant LIRI-JP 14 61294816 61294828 deletion of <=200bp AATTGTTTAAAAC - intron_variant LIRI-JP 14 61296848 61296848 single base substitution C G intron_variant LIRI-JP 14 61298530 61298530 single base substitution T C intron_variant LIRI-JP 14 61298783 61298783 single base substitution G T intron_variant LIRI-JP 14 61299597 61299597 single base substitution A G intron_variant LIRI-JP 14 61300328 61300328 single base substitution G A intron_variant LIRI-JP 14 61300683 61300683 single base substitution A G intron_variant LIRI-JP 14 61301460 61301460 single base substitution A C intron_variant LIRI-JP 14 61301490 61301490 single base substitution C G intron_variant LIRI-JP 14 61302498 61302498 single base substitution G C intron_variant LIRI-JP 14 61303838 61303838 single base substitution G A intron_variant LIRI-JP 14 61304878 61304878 single base substitution T C intron_variant LIRI-JP 14 61306150 61306150 single base substitution G T intron_variant LIRI-JP 14 61310237 61310237 single base substitution C A intron_variant LIRI-JP 14 61311229 61311229 single base substitution A G intron_variant LIRI-JP 14 61311988 61311988 single base substitution T A intron_variant LIRI-JP 14 61314534 61314534 single base substitution A T intron_variant LIRI-JP 14 61318268 61318268 single base substitution A G intron_variant LIRI-JP 14 61318337 61318337 single base substitution G T intron_variant LIRI-JP 14 61318827 61318827 single base substitution A T intron_variant LIRI-JP 14 61318841 61318841 single base substitution T A intron_variant LIRI-JP 14 61318866 61318866 single base substitution C A intron_variant LIRI-JP 14 61319157 61319157 single base substitution A G intron_variant LIRI-JP 14 61320467 61320467 single base substitution G A intron_variant LIRI-JP 14 61320962 61320962 single base substitution C T intron_variant LIRI-JP 14 61321147 61321147 single base substitution G A intron_variant LIRI-JP 14 61324595 61324595 single base substitution A T intron_variant LIRI-JP 14 61326733 61326733 single base substitution G T intron_variant LIRI-JP 14 61326927 61326927 single base substitution C T intron_variant LIRI-JP 14 61327642 61327642 single base substitution A G intron_variant LIRI-JP 14 61328229 61328229 single base substitution A T intron_variant LIRI-JP 14 61328303 61328303 single base substitution A G intron_variant LIRI-JP 14 61329443 61329443 single base substitution T G intron_variant LIRI-JP 14 61330284 61330284 single base substitution G A intron_variant LIRI-JP 14 61330439 61330439 single base substitution C T intron_variant LIRI-JP 14 61330669 61330669 single base substitution G T intron_variant LIRI-JP 14 61332005 61332005 single base substitution A G intron_variant LIRI-JP 14 61332444 61332444 single base substitution A G intron_variant LIRI-JP 14 61335959 61335959 single base substitution A G intron_variant LIRI-JP 14 61338646 61338646 single base substitution G A intron_variant LIRI-JP 14 61343069 61343069 single base substitution G A intron_variant LIRI-JP 14 61347248 61347248 single base substitution A T downstream_gene_variant LIRI-JP 14 61347248 61347248 single base substitution A T intron_variant LIRI-JP 14 61347828 61347828 single base substitution T C downstream_gene_variant LIRI-JP 14 61347828 61347828 single base substitution T C intron_variant LIRI-JP 14 61348387 61348387 single base substitution A G downstream_gene_variant LIRI-JP 14 61348387 61348387 single base substitution A G intron_variant LIRI-JP 14 61348502 61348502 single base substitution A G downstream_gene_variant LIRI-JP 14 61348502 61348502 single base substitution A G intron_variant LIRI-JP 14 61350334 61350334 single base substitution A G downstream_gene_variant LIRI-JP 14 61350334 61350334 single base substitution A G intron_variant LIRI-JP 14 61352798 61352798 single base substitution G C intron_variant LIRI-JP 14 61356575 61356575 single base substitution C T intron_variant LIRI-JP 14 61358412 61358412 single base substitution C T intron_variant LIRI-JP 14 61359797 61359797 single base substitution C T intron_variant LIRI-JP 14 61361454 61361454 insertion of <=200bp - G intron_variant LIRI-JP 14 61361460 61361460 single base substitution A G intron_variant LIRI-JP 14 61361518 61361518 single base substitution G A intron_variant LIRI-JP 14 61364246 61364246 single base substitution G A intron_variant LIRI-JP 14 61364286 61364286 single base substitution A T intron_variant LIRI-JP 14 61365263 61365263 single base substitution G T intron_variant LIRI-JP 14 61368000 61368000 single base substitution T C intron_variant LIRI-JP 14 61368146 61368146 single base substitution G A intron_variant LIRI-JP 14 61368147 61368147 single base substitution A T intron_variant LIRI-JP 14 61369615 61369615 single base substitution C T intron_variant LIRI-JP 14 61370041 61370041 single base substitution C A intron_variant LIRI-JP 14 61370404 61370404 single base substitution A T intron_variant LIRI-JP 14 61371820 61371820 single base substitution T C intron_variant LIRI-JP 14 61372251 61372251 single base substitution A T intron_variant LIRI-JP 14 61372262 61372262 single base substitution A C intron_variant LIRI-JP 14 61375499 61375499 single base substitution A T intron_variant LIRI-JP 14 61376247 61376247 single base substitution G A intron_variant LIRI-JP 14 61381365 61381365 single base substitution T A intron_variant LIRI-JP 14 61382911 61382911 single base substitution G A intron_variant LIRI-JP 14 61386564 61386564 single base substitution G T intron_variant LIRI-JP 14 61388434 61388434 single base substitution A G intron_variant LIRI-JP 14 61390891 61390891 single base substitution A G intron_variant LIRI-JP 14 61390988 61390988 single base substitution T C intron_variant LIRI-JP 14 61392829 61392829 single base substitution G T intron_variant LIRI-JP 14 61395817 61395817 single base substitution A G intron_variant LIRI-JP 14 61396355 61396355 single base substitution C G intron_variant LIRI-JP 14 61397694 61397694 single base substitution T C intron_variant LIRI-JP 14 61397841 61397841 single base substitution T G intron_variant LIRI-JP 14 61397989 61397989 single base substitution C T intron_variant LIRI-JP 14 61398074 61398074 single base substitution T G intron_variant LIRI-JP 14 61398244 61398244 single base substitution T C intron_variant LIRI-JP 14 61398500 61398500 single base substitution A G intron_variant LIRI-JP 14 61400160 61400160 single base substitution G T intron_variant LIRI-JP 14 61405322 61405322 single base substitution T G intron_variant LIRI-JP 14 61405912 61405912 single base substitution C T intron_variant LIRI-JP 14 61406848 61406848 single base substitution G T intron_variant LIRI-JP 14 61407802 61407802 single base substitution A G intron_variant LIRI-JP 14 61408999 61408999 single base substitution G T intron_variant LIRI-JP 14 61409502 61409502 single base substitution A G intron_variant LIRI-JP 14 61412940 61412940 single base substitution C A intron_variant LIRI-JP 14 61414141 61414141 single base substitution C T intron_variant LIRI-JP 14 61416059 61416059 single base substitution G A intron_variant LIRI-JP 14 61417525 61417525 single base substitution A G intron_variant LIRI-JP 14 61417834 61417834 single base substitution A T intron_variant LIRI-JP 14 61418230 61418230 single base substitution A T intron_variant LIRI-JP 14 61418917 61418917 single base substitution G C intron_variant LIRI-JP 14 61421455 61421455 single base substitution T G intron_variant LIRI-JP 14 61425548 61425548 single base substitution G A intron_variant LIRI-JP 14 61429602 61429602 single base substitution C G intron_variant LIRI-JP 14 61433980 61433980 single base substitution A C intron_variant LIRI-JP 14 61436051 61436051 single base substitution A G 3_prime_UTR_variant LIRI-JP 14 61436051 61436051 single base substitution A G downstream_gene_variant LIRI-JP 14 61437009 61437009 single base substitution T G downstream_gene_variant LIRI-JP 14 61438241 61438244 deletion of <=200bp CAGA - downstream_gene_variant LIRI-JP 14 61440151 61440151 single base substitution T C downstream_gene_variant LUSC-KR 14 61196726 61196726 single base substitution C A upstream_gene_variant LUSC-KR 14 61202930 61202930 single base substitution G A intron_variant LUSC-KR 14 61204171 61204171 single base substitution A G intron_variant LUSC-KR 14 61223759 61223759 single base substitution A G downstream_gene_variant LUSC-KR 14 61223759 61223759 single base substitution A G intron_variant LUSC-KR 14 61225494 61225494 single base substitution G T downstream_gene_variant LUSC-KR 14 61225494 61225494 single base substitution G T intron_variant LUSC-KR 14 61233187 61233187 single base substitution T G intron_variant LUSC-KR 14 61240308 61240308 single base substitution C A intron_variant LUSC-KR 14 61249809 61249809 single base substitution G C intron_variant LUSC-KR 14 61251687 61251687 single base substitution C T intron_variant LUSC-KR 14 61258981 61258981 single base substitution G T intron_variant LUSC-KR 14 61258981 61258981 single base substitution G T upstream_gene_variant LUSC-KR 14 61262249 61262249 single base substitution G T intron_variant LUSC-KR 14 61262249 61262249 single base substitution G T upstream_gene_variant LUSC-KR 14 61265295 61265295 single base substitution G T intron_variant LUSC-KR 14 61267369 61267369 single base substitution G C intron_variant LUSC-KR 14 61267869 61267869 single base substitution G A intron_variant LUSC-KR 14 61267988 61267988 single base substitution G A intron_variant LUSC-KR 14 61280327 61280327 single base substitution C A downstream_gene_variant LUSC-KR 14 61280327 61280327 single base substitution C A intron_variant LUSC-KR 14 61285638 61285638 single base substitution C G downstream_gene_variant LUSC-KR 14 61285638 61285638 single base substitution C G intron_variant LUSC-KR 14 61286914 61286914 single base substitution G T downstream_gene_variant LUSC-KR 14 61286914 61286914 single base substitution G T intron_variant LUSC-KR 14 61296439 61296439 single base substitution A G intron_variant LUSC-KR 14 61297010 61297010 single base substitution C G intron_variant LUSC-KR 14 61304159 61304159 single base substitution C T intron_variant LUSC-KR 14 61305278 61305278 single base substitution A G intron_variant LUSC-KR 14 61324002 61324002 single base substitution C T intron_variant LUSC-KR 14 61328689 61328689 single base substitution T C intron_variant LUSC-KR 14 61331484 61331484 single base substitution G C intron_variant LUSC-KR 14 61338390 61338390 single base substitution G T intron_variant LUSC-KR 14 61344549 61344549 single base substitution G T intron_variant LUSC-KR 14 61358195 61358195 single base substitution C G intron_variant LUSC-KR 14 61358254 61358254 single base substitution C T intron_variant LUSC-KR 14 61358259 61358259 single base substitution C G intron_variant LUSC-KR 14 61378187 61378187 single base substitution A T intron_variant LUSC-KR 14 61380397 61380397 single base substitution C G intron_variant LUSC-KR 14 61382235 61382235 single base substitution A T intron_variant LUSC-KR 14 61393382 61393382 single base substitution G T intron_variant LUSC-KR 14 61404674 61404674 single base substitution G T intron_variant LUSC-KR 14 61405738 61405738 single base substitution A G intron_variant LUSC-KR 14 61406309 61406309 single base substitution G C intron_variant LUSC-KR 14 61417657 61417657 single base substitution G C intron_variant LUSC-KR 14 61439149 61439149 single base substitution T C downstream_gene_variant LUSC-KR 14 61439169 61439169 single base substitution T C downstream_gene_variant LUSC-KR 14 61439187 61439187 single base substitution C T downstream_gene_variant LUSC-KR 14 61439190 61439190 single base substitution C T downstream_gene_variant MALY-DE 14 61199964 61199964 insertion of <=200bp - AAAC upstream_gene_variant MALY-DE 14 61202079 61202079 single base substitution A G intron_variant MALY-DE 14 61206397 61206397 single base substitution A C intron_variant MALY-DE 14 61213452 61213452 single base substitution G C intron_variant MALY-DE 14 61216446 61216446 single base substitution T A intron_variant MALY-DE 14 61217984 61217984 insertion of <=200bp - T intron_variant MALY-DE 14 61225906 61225906 single base substitution A C intron_variant MALY-DE 14 61233016 61233016 single base substitution G C intron_variant MALY-DE 14 61243289 61243289 deletion of <=200bp G - intron_variant MALY-DE 14 61244318 61244318 single base substitution G A intron_variant MALY-DE 14 61246714 61246714 single base substitution C T intron_variant MALY-DE 14 61248582 61248582 single base substitution A G intron_variant MALY-DE 14 61255158 61255158 single base substitution G C intron_variant MALY-DE 14 61259447 61259447 single base substitution G A intron_variant MALY-DE 14 61259447 61259447 single base substitution G A upstream_gene_variant MALY-DE 14 61262507 61262507 single base substitution A C intron_variant MALY-DE 14 61262507 61262507 single base substitution A C upstream_gene_variant MALY-DE 14 61266421 61266421 single base substitution T A intron_variant MALY-DE 14 61269003 61269003 single base substitution A C intron_variant MALY-DE 14 61281767 61281767 single base substitution T C intron_variant MALY-DE 14 61292033 61292033 single base substitution T G intron_variant MALY-DE 14 61297373 61297373 single base substitution A T intron_variant MALY-DE 14 61306529 61306529 single base substitution C T intron_variant MALY-DE 14 61318607 61318607 single base substitution T C intron_variant MALY-DE 14 61324451 61324451 single base substitution T G intron_variant MALY-DE 14 61335289 61335289 single base substitution C T intron_variant MALY-DE 14 61341864 61341864 single base substitution C A intron_variant MALY-DE 14 61343510 61343510 single base substitution T A intron_variant MALY-DE 14 61343515 61343515 single base substitution A T intron_variant MALY-DE 14 61343589 61343589 single base substitution A C intron_variant MALY-DE 14 61344620 61344620 single base substitution A G intron_variant MALY-DE 14 61348582 61348582 single base substitution A T downstream_gene_variant MALY-DE 14 61348582 61348582 single base substitution A T intron_variant MALY-DE 14 61361007 61361007 single base substitution T A intron_variant MALY-DE 14 61365243 61365243 single base substitution A G intron_variant MALY-DE 14 61367764 61367764 single base substitution C A intron_variant MALY-DE 14 61372655 61372655 single base substitution C G intron_variant MALY-DE 14 61376137 61376137 insertion of <=200bp - ATA intron_variant MALY-DE 14 61382535 61382535 single base substitution A C intron_variant MALY-DE 14 61385739 61385739 single base substitution A G intron_variant MALY-DE 14 61387184 61387184 single base substitution C A intron_variant MALY-DE 14 61390549 61390549 single base substitution T G intron_variant MALY-DE 14 61393839 61393839 single base substitution A G intron_variant MALY-DE 14 61393956 61393956 single base substitution A C intron_variant MALY-DE 14 61394386 61394386 single base substitution G A intron_variant MALY-DE 14 61396393 61396393 single base substitution T G intron_variant MALY-DE 14 61396908 61396908 single base substitution A C intron_variant MALY-DE 14 61399686 61399686 single base substitution T G intron_variant MALY-DE 14 61408266 61408266 single base substitution G C intron_variant MALY-DE 14 61430734 61430734 single base substitution C G intron_variant MALY-DE 14 61435310 61435310 single base substitution G T 3_prime_UTR_variant MALY-DE 14 61436082 61436082 single base substitution T A 3_prime_UTR_variant MALY-DE 14 61436082 61436082 single base substitution T A downstream_gene_variant MELA-AU 14 61196496 61196496 single base substitution G A upstream_gene_variant MELA-AU 14 61196510 61196510 single base substitution C T upstream_gene_variant MELA-AU 14 61196574 61196574 single base substitution G A upstream_gene_variant MELA-AU 14 61196598 61196598 single base substitution G A upstream_gene_variant MELA-AU 14 61196939 61196939 single base substitution T C upstream_gene_variant MELA-AU 14 61196940 61196940 single base substitution C T upstream_gene_variant MELA-AU 14 61197011 61197011 single base substitution G A upstream_gene_variant MELA-AU 14 61197163 61197163 single base substitution C T upstream_gene_variant MELA-AU 14 61197462 61197462 single base substitution C T upstream_gene_variant MELA-AU 14 61197475 61197475 single base substitution G A upstream_gene_variant MELA-AU 14 61197631 61197631 single base substitution G A upstream_gene_variant MELA-AU 14 61197986 61197986 single base substitution G A upstream_gene_variant MELA-AU 14 61198221 61198221 single base substitution G A upstream_gene_variant MELA-AU 14 61198250 61198250 single base substitution G A upstream_gene_variant MELA-AU 14 61198302 61198302 single base substitution C T upstream_gene_variant MELA-AU 14 61198317 61198317 single base substitution C T upstream_gene_variant MELA-AU 14 61198368 61198368 single base substitution G A upstream_gene_variant MELA-AU 14 61198402 61198402 single base substitution G A upstream_gene_variant MELA-AU 14 61198426 61198426 single base substitution G A upstream_gene_variant MELA-AU 14 61198664 61198664 single base substitution G T upstream_gene_variant MELA-AU 14 61198743 61198743 single base substitution G A upstream_gene_variant MELA-AU 14 61198929 61198929 single base substitution C T upstream_gene_variant MELA-AU 14 61198993 61198993 single base substitution C T upstream_gene_variant MELA-AU 14 61199172 61199172 single base substitution T C upstream_gene_variant MELA-AU 14 61199193 61199193 single base substitution C T upstream_gene_variant MELA-AU 14 61199262 61199262 single base substitution A C upstream_gene_variant MELA-AU 14 61199413 61199413 single base substitution C T upstream_gene_variant MELA-AU 14 61199604 61199604 single base substitution G A upstream_gene_variant MELA-AU 14 61199773 61199773 single base substitution A G upstream_gene_variant MELA-AU 14 61199886 61199886 single base substitution C T upstream_gene_variant MELA-AU 14 61199918 61199918 single base substitution G T upstream_gene_variant MELA-AU 14 61200091 61200091 single base substitution C T upstream_gene_variant MELA-AU 14 61200589 61200589 single base substitution C T upstream_gene_variant MELA-AU 14 61201464 61201465 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 14 61201464 61201465 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 14 61202199 61202199 single base substitution T A intron_variant MELA-AU 14 61202658 61202658 single base substitution C T intron_variant MELA-AU 14 61202962 61202962 single base substitution C T intron_variant MELA-AU 14 61204281 61204281 single base substitution C T intron_variant MELA-AU 14 61205097 61205097 single base substitution C T intron_variant MELA-AU 14 61205207 61205207 single base substitution C T intron_variant MELA-AU 14 61205268 61205268 single base substitution C T intron_variant MELA-AU 14 61205377 61205377 single base substitution C T intron_variant MELA-AU 14 61206486 61206486 single base substitution C T intron_variant MELA-AU 14 61206800 61206800 single base substitution G A intron_variant MELA-AU 14 61208176 61208176 single base substitution C T intron_variant MELA-AU 14 61208433 61208433 single base substitution C T intron_variant MELA-AU 14 61208905 61208906 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 61209779 61209779 single base substitution C T intron_variant MELA-AU 14 61210558 61210558 single base substitution C T intron_variant MELA-AU 14 61210854 61210854 single base substitution T A intron_variant MELA-AU 14 61211299 61211299 single base substitution T A intron_variant MELA-AU 14 61212384 61212384 single base substitution C T intron_variant MELA-AU 14 61212999 61212999 single base substitution C T intron_variant MELA-AU 14 61213060 61213060 single base substitution C T intron_variant MELA-AU 14 61213147 61213147 single base substitution C T intron_variant MELA-AU 14 61213853 61213853 single base substitution C T intron_variant MELA-AU 14 61214690 61214691 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 61215289 61215289 single base substitution G A intron_variant MELA-AU 14 61215908 61215908 single base substitution T C intron_variant MELA-AU 14 61216073 61216073 single base substitution C T intron_variant MELA-AU 14 61216659 61216659 single base substitution C T intron_variant MELA-AU 14 61216681 61216681 single base substitution C T intron_variant MELA-AU 14 61216887 61216887 single base substitution A G intron_variant MELA-AU 14 61216934 61216934 single base substitution C T intron_variant MELA-AU 14 61217169 61217169 single base substitution C T intron_variant MELA-AU 14 61217183 61217183 single base substitution C G intron_variant MELA-AU 14 61217336 61217336 single base substitution G A intron_variant MELA-AU 14 61217766 61217766 single base substitution G A intron_variant MELA-AU 14 61218595 61218595 single base substitution C T intron_variant MELA-AU 14 61218882 61218882 single base substitution A G intron_variant MELA-AU 14 61219000 61219000 single base substitution C T intron_variant MELA-AU 14 61221062 61221062 single base substitution T C downstream_gene_variant MELA-AU 14 61221062 61221062 single base substitution T C intron_variant MELA-AU 14 61221167 61221167 single base substitution G A downstream_gene_variant MELA-AU 14 61221167 61221167 single base substitution G A intron_variant MELA-AU 14 61221839 61221839 single base substitution C T downstream_gene_variant MELA-AU 14 61221839 61221839 single base substitution C T intron_variant MELA-AU 14 61222291 61222291 single base substitution C T downstream_gene_variant MELA-AU 14 61222291 61222291 single base substitution C T intron_variant MELA-AU 14 61222414 61222414 single base substitution T A downstream_gene_variant MELA-AU 14 61222414 61222414 single base substitution T A intron_variant MELA-AU 14 61222444 61222444 single base substitution C T downstream_gene_variant MELA-AU 14 61222444 61222444 single base substitution C T intron_variant MELA-AU 14 61222691 61222691 single base substitution C T downstream_gene_variant MELA-AU 14 61222691 61222691 single base substitution C T intron_variant MELA-AU 14 61223132 61223132 single base substitution C T downstream_gene_variant MELA-AU 14 61223132 61223132 single base substitution C T intron_variant MELA-AU 14 61223237 61223237 single base substitution C T downstream_gene_variant MELA-AU 14 61223237 61223237 single base substitution C T intron_variant MELA-AU 14 61225115 61225115 single base substitution C T downstream_gene_variant MELA-AU 14 61225115 61225115 single base substitution C T intron_variant MELA-AU 14 61225133 61225133 single base substitution T C downstream_gene_variant MELA-AU 14 61225133 61225133 single base substitution T C intron_variant MELA-AU 14 61225327 61225327 single base substitution C T downstream_gene_variant MELA-AU 14 61225327 61225327 single base substitution C T intron_variant MELA-AU 14 61226899 61226899 single base substitution T C intron_variant MELA-AU 14 61227482 61227482 single base substitution C T intron_variant MELA-AU 14 61227499 61227499 single base substitution G C intron_variant MELA-AU 14 61227774 61227774 single base substitution A G intron_variant MELA-AU 14 61227942 61227942 single base substitution C T intron_variant MELA-AU 14 61228393 61228393 single base substitution C T intron_variant MELA-AU 14 61229340 61229340 single base substitution C T intron_variant MELA-AU 14 61229401 61229401 single base substitution G A intron_variant MELA-AU 14 61230150 61230150 single base substitution C T intron_variant MELA-AU 14 61230381 61230381 single base substitution T C intron_variant MELA-AU 14 61230422 61230422 single base substitution C T intron_variant MELA-AU 14 61231710 61231710 single base substitution T C intron_variant MELA-AU 14 61231962 61231962 single base substitution C T intron_variant MELA-AU 14 61233314 61233314 single base substitution C T intron_variant MELA-AU 14 61234062 61234062 single base substitution T C intron_variant MELA-AU 14 61234438 61234438 single base substitution C T intron_variant MELA-AU 14 61234870 61234870 single base substitution C T intron_variant MELA-AU 14 61235007 61235007 single base substitution C T intron_variant MELA-AU 14 61235359 61235359 single base substitution C T intron_variant MELA-AU 14 61236407 61236407 single base substitution T A intron_variant MELA-AU 14 61236627 61236627 single base substitution C T intron_variant MELA-AU 14 61236808 61236808 single base substitution C T intron_variant MELA-AU 14 61236983 61236983 single base substitution C T intron_variant MELA-AU 14 61237439 61237439 single base substitution C T intron_variant MELA-AU 14 61238012 61238012 single base substitution C T intron_variant MELA-AU 14 61238264 61238264 single base substitution C T intron_variant MELA-AU 14 61238739 61238739 single base substitution C T intron_variant MELA-AU 14 61239050 61239050 single base substitution C T intron_variant MELA-AU 14 61239167 61239167 single base substitution G A intron_variant MELA-AU 14 61239890 61239890 single base substitution C T intron_variant MELA-AU 14 61240761 61240761 single base substitution G A intron_variant MELA-AU 14 61242362 61242362 single base substitution G A intron_variant MELA-AU 14 61242402 61242402 single base substitution C T intron_variant MELA-AU 14 61243793 61243793 single base substitution C T intron_variant MELA-AU 14 61244020 61244021 multiple base substitution (>=2bp and <=200bp) TG AT intron_variant MELA-AU 14 61244474 61244474 single base substitution C A intron_variant MELA-AU 14 61244922 61244922 single base substitution T C intron_variant MELA-AU 14 61245174 61245174 single base substitution C T intron_variant MELA-AU 14 61246254 61246255 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 61247820 61247820 single base substitution C T intron_variant MELA-AU 14 61247921 61247921 single base substitution C T intron_variant MELA-AU 14 61248243 61248243 single base substitution C T intron_variant MELA-AU 14 61248351 61248351 single base substitution C T intron_variant MELA-AU 14 61248991 61248991 single base substitution C T intron_variant MELA-AU 14 61249011 61249011 single base substitution C T intron_variant MELA-AU 14 61249247 61249247 single base substitution C T intron_variant MELA-AU 14 61249549 61249549 single base substitution C T intron_variant MELA-AU 14 61249653 61249653 single base substitution C T intron_variant MELA-AU 14 61250109 61250109 single base substitution A G intron_variant MELA-AU 14 61250725 61250725 single base substitution A G intron_variant MELA-AU 14 61251257 61251257 single base substitution G T intron_variant MELA-AU 14 61251984 61251984 single base substitution T C intron_variant MELA-AU 14 61252689 61252689 single base substitution T C intron_variant MELA-AU 14 61252777 61252777 single base substitution C T intron_variant MELA-AU 14 61252838 61252838 single base substitution G A intron_variant MELA-AU 14 61253691 61253691 single base substitution C T intron_variant MELA-AU 14 61254153 61254153 single base substitution T C intron_variant MELA-AU 14 61254286 61254286 single base substitution C T intron_variant MELA-AU 14 61254784 61254784 single base substitution T G intron_variant MELA-AU 14 61254978 61254978 single base substitution G A intron_variant MELA-AU 14 61255442 61255442 single base substitution C T intron_variant MELA-AU 14 61255486 61255486 single base substitution C T intron_variant MELA-AU 14 61255673 61255673 single base substitution T A intron_variant MELA-AU 14 61256251 61256251 single base substitution T C intron_variant MELA-AU 14 61256577 61256577 single base substitution A G intron_variant MELA-AU 14 61256628 61256638 deletion of <=200bp TATTCAAAGTA - intron_variant MELA-AU 14 61256829 61256829 single base substitution G A intron_variant MELA-AU 14 61257424 61257424 single base substitution C T intron_variant MELA-AU 14 61257802 61257802 single base substitution C T intron_variant MELA-AU 14 61257857 61257857 single base substitution G A intron_variant MELA-AU 14 61258631 61258631 single base substitution C T intron_variant MELA-AU 14 61258631 61258631 single base substitution C T upstream_gene_variant MELA-AU 14 61258780 61258780 single base substitution A T intron_variant MELA-AU 14 61258780 61258780 single base substitution A T upstream_gene_variant MELA-AU 14 61259068 61259068 single base substitution C T intron_variant MELA-AU 14 61259068 61259068 single base substitution C T upstream_gene_variant MELA-AU 14 61259201 61259204 deletion of <=200bp TGTT - intron_variant MELA-AU 14 61259201 61259204 deletion of <=200bp TGTT - upstream_gene_variant MELA-AU 14 61259634 61259634 single base substitution C T intron_variant MELA-AU 14 61259634 61259634 single base substitution C T upstream_gene_variant MELA-AU 14 61260147 61260147 single base substitution C T intron_variant MELA-AU 14 61260147 61260147 single base substitution C T upstream_gene_variant MELA-AU 14 61260361 61260361 single base substitution G A intron_variant MELA-AU 14 61260361 61260361 single base substitution G A upstream_gene_variant MELA-AU 14 61261062 61261063 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 61261062 61261063 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 61261180 61261180 single base substitution C T intron_variant MELA-AU 14 61261180 61261180 single base substitution C T upstream_gene_variant MELA-AU 14 61261598 61261598 single base substitution C T intron_variant MELA-AU 14 61261598 61261598 single base substitution C T upstream_gene_variant MELA-AU 14 61262117 61262117 single base substitution C T intron_variant MELA-AU 14 61262117 61262117 single base substitution C T upstream_gene_variant MELA-AU 14 61262126 61262126 single base substitution C T intron_variant MELA-AU 14 61262126 61262126 single base substitution C T upstream_gene_variant MELA-AU 14 61262195 61262195 single base substitution C T intron_variant MELA-AU 14 61262195 61262195 single base substitution C T upstream_gene_variant MELA-AU 14 61262387 61262387 single base substitution C T intron_variant MELA-AU 14 61262387 61262387 single base substitution C T upstream_gene_variant MELA-AU 14 61262613 61262613 single base substitution G T intron_variant MELA-AU 14 61262613 61262613 single base substitution G T upstream_gene_variant MELA-AU 14 61264257 61264257 single base substitution A G intron_variant MELA-AU 14 61264676 61264676 single base substitution G A intron_variant MELA-AU 14 61264831 61264831 single base substitution C T exon_variant MELA-AU 14 61264831 61264831 single base substitution C T intron_variant MELA-AU 14 61264831 61264831 single base substitution C T missense_variant P90L 269C>T MELA-AU 14 61264880 61264880 single base substitution T A intron_variant MELA-AU 14 61264880 61264880 single base substitution T A splice_donor_variant MELA-AU 14 61265137 61265137 single base substitution T C intron_variant MELA-AU 14 61265801 61265802 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 14 61266024 61266024 single base substitution G A intron_variant MELA-AU 14 61266247 61266247 single base substitution G T intron_variant MELA-AU 14 61266305 61266305 single base substitution C T intron_variant MELA-AU 14 61266759 61266759 single base substitution G A intron_variant MELA-AU 14 61266872 61266872 single base substitution A T intron_variant MELA-AU 14 61266963 61266963 single base substitution C G intron_variant MELA-AU 14 61267086 61267086 single base substitution A G intron_variant MELA-AU 14 61268484 61268484 single base substitution G A intron_variant MELA-AU 14 61269054 61269054 single base substitution T A intron_variant MELA-AU 14 61269916 61269916 single base substitution G A intron_variant MELA-AU 14 61270753 61270753 insertion of <=200bp - GATTATTCT intron_variant MELA-AU 14 61270753 61270753 insertion of <=200bp - GATTATTCT upstream_gene_variant MELA-AU 14 61271201 61271201 single base substitution A C intron_variant MELA-AU 14 61271201 61271201 single base substitution A C upstream_gene_variant MELA-AU 14 61271941 61271942 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 14 61271941 61271942 multiple base substitution (>=2bp and <=200bp) CT TC upstream_gene_variant MELA-AU 14 61272260 61272260 single base substitution C T intron_variant MELA-AU 14 61272260 61272260 single base substitution C T upstream_gene_variant MELA-AU 14 61272553 61272553 single base substitution A G intron_variant MELA-AU 14 61272553 61272553 single base substitution A G upstream_gene_variant MELA-AU 14 61273634 61273634 single base substitution C T intron_variant MELA-AU 14 61273634 61273634 single base substitution C T upstream_gene_variant MELA-AU 14 61274516 61274516 single base substitution A G intron_variant MELA-AU 14 61274516 61274516 single base substitution A G upstream_gene_variant MELA-AU 14 61274528 61274528 single base substitution C T intron_variant MELA-AU 14 61274528 61274528 single base substitution C T upstream_gene_variant MELA-AU 14 61274530 61274530 single base substitution T C intron_variant MELA-AU 14 61274530 61274530 single base substitution T C upstream_gene_variant MELA-AU 14 61274644 61274644 single base substitution A T intron_variant MELA-AU 14 61274644 61274644 single base substitution A T upstream_gene_variant MELA-AU 14 61274884 61274884 single base substitution G A intron_variant MELA-AU 14 61274884 61274884 single base substitution G A upstream_gene_variant MELA-AU 14 61276744 61276744 single base substitution C T downstream_gene_variant MELA-AU 14 61276744 61276744 single base substitution C T intron_variant MELA-AU 14 61276744 61276744 single base substitution C T upstream_gene_variant MELA-AU 14 61277052 61277052 single base substitution A T downstream_gene_variant MELA-AU 14 61277052 61277052 single base substitution A T intron_variant MELA-AU 14 61277052 61277052 single base substitution A T upstream_gene_variant MELA-AU 14 61277528 61277528 single base substitution C T downstream_gene_variant MELA-AU 14 61277528 61277528 single base substitution C T intron_variant MELA-AU 14 61277528 61277528 single base substitution C T upstream_gene_variant MELA-AU 14 61277627 61277627 single base substitution C T downstream_gene_variant MELA-AU 14 61277627 61277627 single base substitution C T intron_variant MELA-AU 14 61277627 61277627 single base substitution C T upstream_gene_variant MELA-AU 14 61277848 61277848 single base substitution C T downstream_gene_variant MELA-AU 14 61277848 61277848 single base substitution C T intron_variant MELA-AU 14 61277848 61277848 single base substitution C T upstream_gene_variant MELA-AU 14 61278055 61278055 single base substitution C T downstream_gene_variant MELA-AU 14 61278055 61278055 single base substitution C T intron_variant MELA-AU 14 61278055 61278055 single base substitution C T upstream_gene_variant MELA-AU 14 61278130 61278130 single base substitution C T downstream_gene_variant MELA-AU 14 61278130 61278130 single base substitution C T intron_variant MELA-AU 14 61278130 61278130 single base substitution C T upstream_gene_variant MELA-AU 14 61278522 61278522 single base substitution A C downstream_gene_variant MELA-AU 14 61278522 61278522 single base substitution A C intron_variant MELA-AU 14 61278522 61278522 single base substitution A C upstream_gene_variant MELA-AU 14 61278620 61278620 single base substitution C T downstream_gene_variant MELA-AU 14 61278620 61278620 single base substitution C T intron_variant MELA-AU 14 61278620 61278620 single base substitution C T upstream_gene_variant MELA-AU 14 61279100 61279100 single base substitution T C downstream_gene_variant MELA-AU 14 61279100 61279100 single base substitution T C intron_variant MELA-AU 14 61279284 61279284 single base substitution C T downstream_gene_variant MELA-AU 14 61279284 61279284 single base substitution C T intron_variant MELA-AU 14 61279345 61279345 single base substitution C A downstream_gene_variant MELA-AU 14 61279345 61279345 single base substitution C A intron_variant MELA-AU 14 61279972 61279972 single base substitution G A downstream_gene_variant MELA-AU 14 61279972 61279972 single base substitution G A intron_variant MELA-AU 14 61280049 61280049 single base substitution C T downstream_gene_variant MELA-AU 14 61280049 61280049 single base substitution C T intron_variant MELA-AU 14 61280811 61280811 single base substitution C T intron_variant MELA-AU 14 61280968 61280968 single base substitution T A intron_variant MELA-AU 14 61281266 61281266 single base substitution C T intron_variant MELA-AU 14 61281316 61281316 single base substitution C T intron_variant MELA-AU 14 61283027 61283027 single base substitution C A intron_variant MELA-AU 14 61283843 61283843 single base substitution G A intron_variant MELA-AU 14 61284639 61284639 single base substitution A G intron_variant MELA-AU 14 61285048 61285048 single base substitution A T intron_variant MELA-AU 14 61285278 61285278 single base substitution C T intron_variant MELA-AU 14 61285445 61285445 single base substitution T C exon_variant MELA-AU 14 61285445 61285445 single base substitution T C intron_variant MELA-AU 14 61285445 61285445 single base substitution T C synonymous_variant S189S 567T>C MELA-AU 14 61285445 61285445 single base substitution T C synonymous_variant S49S 147T>C MELA-AU 14 61285445 61285445 single base substitution T C synonymous_variant S84S 252T>C MELA-AU 14 61285638 61285638 single base substitution C T downstream_gene_variant MELA-AU 14 61285638 61285638 single base substitution C T intron_variant MELA-AU 14 61287441 61287441 single base substitution C T downstream_gene_variant MELA-AU 14 61287441 61287441 single base substitution C T intron_variant MELA-AU 14 61287784 61287784 single base substitution C T downstream_gene_variant MELA-AU 14 61287784 61287784 single base substitution C T intron_variant MELA-AU 14 61288099 61288099 single base substitution C T downstream_gene_variant MELA-AU 14 61288099 61288099 single base substitution C T intron_variant MELA-AU 14 61288227 61288227 single base substitution C T downstream_gene_variant MELA-AU 14 61288227 61288227 single base substitution C T intron_variant MELA-AU 14 61288361 61288361 single base substitution A T downstream_gene_variant MELA-AU 14 61288361 61288361 single base substitution A T intron_variant MELA-AU 14 61288709 61288709 single base substitution C T downstream_gene_variant MELA-AU 14 61288709 61288709 single base substitution C T intron_variant MELA-AU 14 61289098 61289098 single base substitution C T downstream_gene_variant MELA-AU 14 61289098 61289098 single base substitution C T intron_variant MELA-AU 14 61289133 61289133 single base substitution A G downstream_gene_variant MELA-AU 14 61289133 61289133 single base substitution A G intron_variant MELA-AU 14 61289298 61289298 single base substitution C T downstream_gene_variant MELA-AU 14 61289298 61289298 single base substitution C T intron_variant MELA-AU 14 61289810 61289810 single base substitution C A downstream_gene_variant MELA-AU 14 61289810 61289810 single base substitution C A intron_variant MELA-AU 14 61289976 61289976 single base substitution C T downstream_gene_variant MELA-AU 14 61289976 61289976 single base substitution C T intron_variant MELA-AU 14 61290443 61290443 single base substitution G T downstream_gene_variant MELA-AU 14 61290443 61290443 single base substitution G T intron_variant MELA-AU 14 61290600 61290600 single base substitution G A intron_variant MELA-AU 14 61291332 61291332 single base substitution G C intron_variant MELA-AU 14 61291350 61291350 single base substitution A G intron_variant MELA-AU 14 61292712 61292712 single base substitution A G intron_variant MELA-AU 14 61293007 61293007 single base substitution T G intron_variant MELA-AU 14 61293227 61293227 single base substitution C T intron_variant MELA-AU 14 61293794 61293794 single base substitution T A intron_variant MELA-AU 14 61294170 61294170 single base substitution C T intron_variant MELA-AU 14 61294692 61294692 single base substitution G A intron_variant MELA-AU 14 61294791 61294791 single base substitution G T intron_variant MELA-AU 14 61294833 61294833 single base substitution C T intron_variant MELA-AU 14 61295172 61295172 single base substitution C T intron_variant MELA-AU 14 61295341 61295341 single base substitution C T intron_variant MELA-AU 14 61295493 61295493 single base substitution C T intron_variant MELA-AU 14 61295507 61295507 single base substitution C T intron_variant MELA-AU 14 61295890 61295890 single base substitution C T intron_variant MELA-AU 14 61296160 61296160 single base substitution C T intron_variant MELA-AU 14 61296292 61296292 single base substitution T G intron_variant MELA-AU 14 61296332 61296332 single base substitution A G intron_variant MELA-AU 14 61296542 61296542 single base substitution C T intron_variant MELA-AU 14 61296895 61296895 single base substitution C T intron_variant MELA-AU 14 61296923 61296923 single base substitution T C intron_variant MELA-AU 14 61298229 61298229 single base substitution C T intron_variant MELA-AU 14 61298233 61298233 single base substitution T A intron_variant MELA-AU 14 61298233 61298233 single base substitution T C intron_variant MELA-AU 14 61298718 61298719 multiple base substitution (>=2bp and <=200bp) CC AA intron_variant MELA-AU 14 61298747 61298747 single base substitution G T intron_variant MELA-AU 14 61299051 61299051 single base substitution C T intron_variant MELA-AU 14 61299128 61299128 single base substitution C T intron_variant MELA-AU 14 61299814 61299814 single base substitution C T intron_variant MELA-AU 14 61300011 61300011 single base substitution C T intron_variant MELA-AU 14 61300678 61300678 single base substitution C T intron_variant MELA-AU 14 61301011 61301011 single base substitution C T intron_variant MELA-AU 14 61301028 61301028 single base substitution C T intron_variant MELA-AU 14 61301561 61301561 single base substitution G A intron_variant MELA-AU 14 61301921 61301921 single base substitution C T intron_variant MELA-AU 14 61302676 61302676 single base substitution C T intron_variant MELA-AU 14 61302958 61302958 single base substitution G A intron_variant MELA-AU 14 61302959 61302959 single base substitution T C intron_variant MELA-AU 14 61303096 61303096 single base substitution T C intron_variant MELA-AU 14 61303194 61303194 single base substitution C T intron_variant MELA-AU 14 61303373 61303373 single base substitution C T intron_variant MELA-AU 14 61303718 61303718 single base substitution C T intron_variant MELA-AU 14 61303721 61303721 single base substitution G A intron_variant MELA-AU 14 61303809 61303809 single base substitution C G intron_variant MELA-AU 14 61303848 61303848 single base substitution C T intron_variant MELA-AU 14 61303933 61303933 single base substitution T C intron_variant MELA-AU 14 61304833 61304833 single base substitution C T intron_variant MELA-AU 14 61305498 61305498 single base substitution C T intron_variant MELA-AU 14 61305507 61305507 single base substitution T C intron_variant MELA-AU 14 61305998 61305998 single base substitution C T intron_variant MELA-AU 14 61306171 61306171 single base substitution C T intron_variant MELA-AU 14 61307391 61307391 single base substitution T G intron_variant MELA-AU 14 61307572 61307572 single base substitution G A intron_variant MELA-AU 14 61308085 61308085 single base substitution T G intron_variant MELA-AU 14 61308325 61308325 single base substitution C T intron_variant MELA-AU 14 61308475 61308475 single base substitution C T intron_variant MELA-AU 14 61308535 61308535 single base substitution C G intron_variant MELA-AU 14 61309023 61309023 single base substitution C T intron_variant MELA-AU 14 61309028 61309028 single base substitution C T intron_variant MELA-AU 14 61309083 61309083 single base substitution C T intron_variant MELA-AU 14 61309155 61309155 single base substitution G A intron_variant MELA-AU 14 61309717 61309717 single base substitution C T intron_variant MELA-AU 14 61310111 61310111 single base substitution C T intron_variant MELA-AU 14 61311007 61311007 single base substitution C T intron_variant MELA-AU 14 61311514 61311514 single base substitution T C intron_variant MELA-AU 14 61311564 61311564 single base substitution T C intron_variant MELA-AU 14 61311604 61311604 single base substitution C T intron_variant MELA-AU 14 61311917 61311917 single base substitution T G intron_variant MELA-AU 14 61312552 61312552 single base substitution C T intron_variant MELA-AU 14 61312838 61312838 single base substitution C T intron_variant MELA-AU 14 61313245 61313245 single base substitution C T intron_variant MELA-AU 14 61313319 61313319 single base substitution C T intron_variant MELA-AU 14 61313775 61313775 single base substitution C T intron_variant MELA-AU 14 61314704 61314704 single base substitution A G intron_variant MELA-AU 14 61315210 61315210 single base substitution C T intron_variant MELA-AU 14 61315228 61315228 single base substitution C T intron_variant MELA-AU 14 61315292 61315292 single base substitution T C intron_variant MELA-AU 14 61315611 61315611 single base substitution C T intron_variant MELA-AU 14 61315858 61315858 single base substitution T A intron_variant MELA-AU 14 61316145 61316145 single base substitution T C intron_variant MELA-AU 14 61316909 61316909 single base substitution C T intron_variant MELA-AU 14 61316959 61316959 single base substitution T G intron_variant MELA-AU 14 61317080 61317080 single base substitution C T intron_variant MELA-AU 14 61317206 61317206 single base substitution C T intron_variant MELA-AU 14 61317324 61317324 single base substitution T C intron_variant MELA-AU 14 61317769 61317769 single base substitution T G intron_variant MELA-AU 14 61318417 61318417 single base substitution C T intron_variant MELA-AU 14 61318811 61318811 single base substitution C T intron_variant MELA-AU 14 61318899 61318899 single base substitution C T intron_variant MELA-AU 14 61319824 61319824 single base substitution A T intron_variant MELA-AU 14 61319889 61319889 single base substitution C T intron_variant MELA-AU 14 61320083 61320083 single base substitution G A intron_variant MELA-AU 14 61320103 61320103 single base substitution T G intron_variant MELA-AU 14 61320374 61320374 single base substitution C T intron_variant MELA-AU 14 61320642 61320642 single base substitution G A intron_variant MELA-AU 14 61320795 61320795 single base substitution C T intron_variant MELA-AU 14 61320982 61320982 single base substitution G A intron_variant MELA-AU 14 61321214 61321214 single base substitution C T intron_variant MELA-AU 14 61321272 61321272 single base substitution C T intron_variant MELA-AU 14 61321280 61321280 single base substitution C T intron_variant MELA-AU 14 61322058 61322058 single base substitution T C intron_variant MELA-AU 14 61322417 61322417 single base substitution C T intron_variant MELA-AU 14 61322619 61322619 single base substitution C T intron_variant MELA-AU 14 61322655 61322655 single base substitution C T intron_variant MELA-AU 14 61322684 61322684 single base substitution C T intron_variant MELA-AU 14 61323053 61323054 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 61323232 61323232 single base substitution C T intron_variant MELA-AU 14 61323238 61323238 single base substitution A G intron_variant MELA-AU 14 61323850 61323850 single base substitution C T intron_variant MELA-AU 14 61323869 61323869 single base substitution C T intron_variant MELA-AU 14 61324022 61324022 single base substitution T C intron_variant MELA-AU 14 61324422 61324422 single base substitution C T intron_variant MELA-AU 14 61324681 61324681 single base substitution C T intron_variant MELA-AU 14 61325246 61325246 single base substitution T C intron_variant MELA-AU 14 61325248 61325248 single base substitution C T intron_variant MELA-AU 14 61325411 61325411 single base substitution C T intron_variant MELA-AU 14 61326338 61326338 single base substitution G A intron_variant MELA-AU 14 61326927 61326927 single base substitution C T intron_variant MELA-AU 14 61327312 61327312 single base substitution C T intron_variant MELA-AU 14 61328258 61328258 single base substitution C T intron_variant MELA-AU 14 61328402 61328402 single base substitution C T intron_variant MELA-AU 14 61328564 61328564 single base substitution G A intron_variant MELA-AU 14 61328721 61328721 single base substitution C T intron_variant MELA-AU 14 61329526 61329526 single base substitution G A intron_variant MELA-AU 14 61329835 61329835 single base substitution T C intron_variant MELA-AU 14 61329845 61329845 single base substitution C T intron_variant MELA-AU 14 61330040 61330040 single base substitution C T intron_variant MELA-AU 14 61330592 61330592 single base substitution G A intron_variant MELA-AU 14 61330619 61330619 single base substitution C T intron_variant MELA-AU 14 61331108 61331108 single base substitution A G intron_variant MELA-AU 14 61331539 61331539 single base substitution G A intron_variant MELA-AU 14 61332256 61332256 single base substitution C T intron_variant MELA-AU 14 61332710 61332710 single base substitution C T intron_variant MELA-AU 14 61334586 61334586 single base substitution T C intron_variant MELA-AU 14 61335328 61335328 single base substitution C T intron_variant MELA-AU 14 61335660 61335660 single base substitution G A intron_variant MELA-AU 14 61335924 61335924 single base substitution T G intron_variant MELA-AU 14 61336331 61336331 single base substitution A G intron_variant MELA-AU 14 61336466 61336466 single base substitution T C intron_variant MELA-AU 14 61336976 61336976 single base substitution C T intron_variant MELA-AU 14 61337684 61337684 single base substitution G A intron_variant MELA-AU 14 61338626 61338626 single base substitution C T intron_variant MELA-AU 14 61339833 61339833 single base substitution C T intron_variant MELA-AU 14 61340341 61340341 single base substitution C T intron_variant MELA-AU 14 61341855 61341855 single base substitution C T intron_variant MELA-AU 14 61342564 61342564 single base substitution C T intron_variant MELA-AU 14 61342698 61342698 single base substitution C T intron_variant MELA-AU 14 61343722 61343722 single base substitution G A intron_variant MELA-AU 14 61344301 61344301 single base substitution G A intron_variant MELA-AU 14 61344598 61344598 single base substitution C T intron_variant MELA-AU 14 61344691 61344691 single base substitution C T intron_variant MELA-AU 14 61346343 61346343 single base substitution G A intron_variant MELA-AU 14 61346414 61346414 single base substitution C T intron_variant MELA-AU 14 61346445 61346445 single base substitution C T exon_variant MELA-AU 14 61346445 61346445 single base substitution C T missense_variant S129L 386C>T MELA-AU 14 61346445 61346445 single base substitution C T missense_variant S192L 575C>T MELA-AU 14 61346445 61346445 single base substitution C T missense_variant S234L 701C>T MELA-AU 14 61346445 61346445 single base substitution C T missense_variant S94L 281C>T MELA-AU 14 61346725 61346726 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 14 61346725 61346726 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 61346785 61346785 single base substitution C T downstream_gene_variant MELA-AU 14 61346785 61346785 single base substitution C T intron_variant MELA-AU 14 61347573 61347573 single base substitution A G downstream_gene_variant MELA-AU 14 61347573 61347573 single base substitution A G intron_variant MELA-AU 14 61347577 61347577 single base substitution C T downstream_gene_variant MELA-AU 14 61347577 61347577 single base substitution C T intron_variant MELA-AU 14 61347779 61347779 single base substitution C T downstream_gene_variant MELA-AU 14 61347779 61347779 single base substitution C T intron_variant MELA-AU 14 61348503 61348503 single base substitution G A downstream_gene_variant MELA-AU 14 61348503 61348503 single base substitution G A intron_variant MELA-AU 14 61348936 61348936 single base substitution C T downstream_gene_variant MELA-AU 14 61348936 61348936 single base substitution C T intron_variant MELA-AU 14 61349191 61349191 single base substitution C T downstream_gene_variant MELA-AU 14 61349191 61349191 single base substitution C T intron_variant MELA-AU 14 61349428 61349428 single base substitution G A downstream_gene_variant MELA-AU 14 61349428 61349428 single base substitution G A intron_variant MELA-AU 14 61349655 61349655 insertion of <=200bp - T downstream_gene_variant MELA-AU 14 61349655 61349655 insertion of <=200bp - T intron_variant MELA-AU 14 61349661 61349661 single base substitution C T downstream_gene_variant MELA-AU 14 61349661 61349661 single base substitution C T intron_variant MELA-AU 14 61349883 61349883 single base substitution C T downstream_gene_variant MELA-AU 14 61349883 61349883 single base substitution C T intron_variant MELA-AU 14 61350367 61350367 single base substitution A T downstream_gene_variant MELA-AU 14 61350367 61350367 single base substitution A T intron_variant MELA-AU 14 61351749 61351749 single base substitution C T downstream_gene_variant MELA-AU 14 61351749 61351749 single base substitution C T intron_variant MELA-AU 14 61352121 61352121 single base substitution C A intron_variant MELA-AU 14 61352168 61352168 single base substitution T C intron_variant MELA-AU 14 61352478 61352478 single base substitution T G intron_variant MELA-AU 14 61352768 61352768 single base substitution A C intron_variant MELA-AU 14 61353230 61353230 single base substitution A T intron_variant MELA-AU 14 61353684 61353684 single base substitution C T intron_variant MELA-AU 14 61354221 61354221 single base substitution G A intron_variant MELA-AU 14 61354988 61354988 single base substitution C T intron_variant MELA-AU 14 61355223 61355223 single base substitution A C intron_variant MELA-AU 14 61355986 61355986 single base substitution C A intron_variant MELA-AU 14 61356493 61356493 single base substitution C T intron_variant MELA-AU 14 61357612 61357612 single base substitution C T intron_variant MELA-AU 14 61357797 61357797 single base substitution C T intron_variant MELA-AU 14 61357895 61357895 single base substitution C T intron_variant MELA-AU 14 61357942 61357942 single base substitution C T intron_variant MELA-AU 14 61358686 61358686 single base substitution C T intron_variant MELA-AU 14 61359331 61359332 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 61359385 61359385 single base substitution C T intron_variant MELA-AU 14 61359394 61359394 single base substitution C T intron_variant MELA-AU 14 61359901 61359901 single base substitution C T intron_variant MELA-AU 14 61360038 61360038 single base substitution C T intron_variant MELA-AU 14 61360674 61360674 single base substitution C T intron_variant MELA-AU 14 61361195 61361195 single base substitution C T intron_variant MELA-AU 14 61362109 61362109 single base substitution T G intron_variant MELA-AU 14 61362271 61362271 single base substitution C A intron_variant MELA-AU 14 61362526 61362526 single base substitution C T intron_variant MELA-AU 14 61362855 61362855 single base substitution C T intron_variant MELA-AU 14 61363129 61363129 single base substitution C T intron_variant MELA-AU 14 61363192 61363192 single base substitution A T intron_variant MELA-AU 14 61363814 61363814 single base substitution C T intron_variant MELA-AU 14 61364195 61364195 single base substitution T A intron_variant MELA-AU 14 61364614 61364614 single base substitution T G intron_variant MELA-AU 14 61364906 61364906 single base substitution G A intron_variant MELA-AU 14 61365054 61365054 single base substitution G A intron_variant MELA-AU 14 61365721 61365721 single base substitution T A intron_variant MELA-AU 14 61366170 61366170 single base substitution C T intron_variant MELA-AU 14 61366290 61366290 single base substitution C T intron_variant MELA-AU 14 61367660 61367660 single base substitution C T intron_variant MELA-AU 14 61368129 61368129 single base substitution C T intron_variant MELA-AU 14 61368149 61368149 single base substitution C T intron_variant MELA-AU 14 61368387 61368387 single base substitution C T intron_variant MELA-AU 14 61368884 61368884 single base substitution C T intron_variant MELA-AU 14 61369262 61369262 single base substitution G A intron_variant MELA-AU 14 61369417 61369417 single base substitution G A intron_variant MELA-AU 14 61370005 61370005 single base substitution T A intron_variant MELA-AU 14 61371168 61371168 single base substitution A G intron_variant MELA-AU 14 61371441 61371441 single base substitution C T intron_variant MELA-AU 14 61372336 61372336 single base substitution G A intron_variant MELA-AU 14 61372761 61372761 single base substitution T C intron_variant MELA-AU 14 61372923 61372923 single base substitution T C intron_variant MELA-AU 14 61373075 61373075 single base substitution T C intron_variant MELA-AU 14 61373500 61373500 single base substitution C T intron_variant MELA-AU 14 61373617 61373617 single base substitution T A intron_variant MELA-AU 14 61373930 61373930 single base substitution A C intron_variant MELA-AU 14 61373979 61373979 single base substitution C T intron_variant MELA-AU 14 61374105 61374105 single base substitution C T intron_variant MELA-AU 14 61374711 61374711 single base substitution C T intron_variant MELA-AU 14 61375180 61375180 single base substitution C T intron_variant MELA-AU 14 61375336 61375336 single base substitution C T intron_variant MELA-AU 14 61375391 61375391 single base substitution T C intron_variant MELA-AU 14 61375613 61375613 single base substitution C T intron_variant MELA-AU 14 61376033 61376033 single base substitution C T intron_variant MELA-AU 14 61376897 61376897 single base substitution C T intron_variant MELA-AU 14 61376974 61376974 single base substitution C T intron_variant MELA-AU 14 61377755 61377755 single base substitution C T intron_variant MELA-AU 14 61378004 61378004 single base substitution C T intron_variant MELA-AU 14 61379819 61379819 single base substitution C T intron_variant MELA-AU 14 61379858 61379858 single base substitution C T intron_variant MELA-AU 14 61380061 61380061 single base substitution C T intron_variant MELA-AU 14 61380075 61380075 single base substitution C T intron_variant MELA-AU 14 61380703 61380703 single base substitution T A intron_variant MELA-AU 14 61380704 61380704 single base substitution C T intron_variant MELA-AU 14 61380861 61380861 single base substitution C G intron_variant MELA-AU 14 61380969 61380969 single base substitution T C intron_variant MELA-AU 14 61380971 61380971 single base substitution C T intron_variant MELA-AU 14 61381899 61381899 insertion of <=200bp - CT intron_variant MELA-AU 14 61381935 61381935 single base substitution C T intron_variant MELA-AU 14 61382017 61382017 single base substitution C A intron_variant MELA-AU 14 61382194 61382194 single base substitution C T intron_variant MELA-AU 14 61382202 61382202 single base substitution T A intron_variant MELA-AU 14 61382284 61382284 single base substitution A T intron_variant MELA-AU 14 61382945 61382945 single base substitution C T intron_variant MELA-AU 14 61383196 61383196 single base substitution G A intron_variant MELA-AU 14 61383590 61383590 single base substitution G A intron_variant MELA-AU 14 61383777 61383777 single base substitution A G intron_variant MELA-AU 14 61384291 61384291 single base substitution C T intron_variant MELA-AU 14 61384489 61384489 single base substitution T C intron_variant MELA-AU 14 61384546 61384546 single base substitution A T intron_variant MELA-AU 14 61384831 61384831 single base substitution C T intron_variant MELA-AU 14 61384835 61384835 single base substitution C T intron_variant MELA-AU 14 61385753 61385753 single base substitution G A intron_variant MELA-AU 14 61385863 61385863 single base substitution C T intron_variant MELA-AU 14 61386005 61386005 single base substitution G A intron_variant MELA-AU 14 61386211 61386211 single base substitution T A intron_variant MELA-AU 14 61386321 61386321 single base substitution C T intron_variant MELA-AU 14 61386322 61386322 single base substitution C T intron_variant MELA-AU 14 61386402 61386402 single base substitution T A intron_variant MELA-AU 14 61387092 61387092 single base substitution G A intron_variant MELA-AU 14 61387126 61387126 single base substitution G A intron_variant MELA-AU 14 61388477 61388477 single base substitution T C intron_variant MELA-AU 14 61389907 61389907 single base substitution C T intron_variant MELA-AU 14 61390500 61390500 single base substitution C T intron_variant MELA-AU 14 61390515 61390515 single base substitution G A intron_variant MELA-AU 14 61391766 61391766 single base substitution C T intron_variant MELA-AU 14 61391863 61391863 single base substitution C T intron_variant MELA-AU 14 61391926 61391926 single base substitution T G intron_variant MELA-AU 14 61392319 61392319 single base substitution C T intron_variant MELA-AU 14 61392336 61392336 single base substitution C T intron_variant MELA-AU 14 61392559 61392559 single base substitution C A intron_variant MELA-AU 14 61392919 61392919 single base substitution C T intron_variant MELA-AU 14 61392973 61392973 single base substitution C T intron_variant MELA-AU 14 61393598 61393598 single base substitution C T intron_variant MELA-AU 14 61393730 61393730 single base substitution G C intron_variant MELA-AU 14 61394654 61394654 single base substitution T C intron_variant MELA-AU 14 61395015 61395015 single base substitution C T intron_variant MELA-AU 14 61395770 61395770 single base substitution C T intron_variant MELA-AU 14 61395819 61395819 single base substitution C T intron_variant MELA-AU 14 61396282 61396282 single base substitution C T intron_variant MELA-AU 14 61397403 61397403 single base substitution C T intron_variant MELA-AU 14 61397404 61397404 single base substitution C T intron_variant MELA-AU 14 61397581 61397581 single base substitution C T intron_variant MELA-AU 14 61398203 61398203 single base substitution C T intron_variant MELA-AU 14 61398960 61398960 single base substitution C T intron_variant MELA-AU 14 61399171 61399171 single base substitution G A intron_variant MELA-AU 14 61399782 61399782 single base substitution C T intron_variant MELA-AU 14 61399785 61399785 single base substitution C T intron_variant MELA-AU 14 61399979 61399979 single base substitution C T intron_variant MELA-AU 14 61400198 61400198 single base substitution T C intron_variant MELA-AU 14 61400470 61400470 single base substitution C T intron_variant MELA-AU 14 61400884 61400884 single base substitution C T intron_variant MELA-AU 14 61401218 61401218 single base substitution C T intron_variant MELA-AU 14 61401624 61401624 single base substitution C T intron_variant MELA-AU 14 61401852 61401852 single base substitution C T intron_variant MELA-AU 14 61402190 61402190 single base substitution T C intron_variant MELA-AU 14 61402790 61402790 single base substitution C T intron_variant MELA-AU 14 61402794 61402794 single base substitution C T intron_variant MELA-AU 14 61402949 61402949 single base substitution G C intron_variant MELA-AU 14 61402959 61402959 single base substitution T A intron_variant MELA-AU 14 61402979 61402979 single base substitution G C intron_variant MELA-AU 14 61403095 61403095 single base substitution C T intron_variant MELA-AU 14 61403264 61403264 single base substitution G A intron_variant MELA-AU 14 61405282 61405282 single base substitution C T intron_variant MELA-AU 14 61405440 61405441 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 61406101 61406101 single base substitution C T intron_variant MELA-AU 14 61406187 61406187 single base substitution C T intron_variant MELA-AU 14 61407414 61407414 single base substitution C G intron_variant MELA-AU 14 61408670 61408670 single base substitution C T intron_variant MELA-AU 14 61408962 61408962 single base substitution C T intron_variant MELA-AU 14 61409544 61409544 single base substitution A T intron_variant MELA-AU 14 61410350 61410350 single base substitution C T intron_variant MELA-AU 14 61410654 61410654 single base substitution C T intron_variant MELA-AU 14 61410817 61410817 single base substitution G A intron_variant MELA-AU 14 61411060 61411060 single base substitution G T intron_variant MELA-AU 14 61411904 61411904 single base substitution C T intron_variant MELA-AU 14 61411944 61411944 single base substitution G A intron_variant MELA-AU 14 61412892 61412892 single base substitution C T intron_variant MELA-AU 14 61413844 61413844 single base substitution G A intron_variant MELA-AU 14 61414722 61414722 single base substitution T A intron_variant MELA-AU 14 61414969 61414969 single base substitution T A intron_variant MELA-AU 14 61415359 61415359 single base substitution T A intron_variant MELA-AU 14 61415662 61415662 single base substitution C T intron_variant MELA-AU 14 61415666 61415666 single base substitution C T intron_variant MELA-AU 14 61415802 61415802 single base substitution G A intron_variant MELA-AU 14 61415997 61415997 single base substitution G A intron_variant MELA-AU 14 61416102 61416102 single base substitution C T intron_variant MELA-AU 14 61416938 61416938 single base substitution G A intron_variant MELA-AU 14 61417373 61417373 single base substitution C T intron_variant MELA-AU 14 61417403 61417403 single base substitution G A intron_variant MELA-AU 14 61417929 61417929 single base substitution C T intron_variant MELA-AU 14 61418071 61418071 single base substitution C T intron_variant MELA-AU 14 61418079 61418079 single base substitution C T intron_variant MELA-AU 14 61418260 61418260 single base substitution T A intron_variant MELA-AU 14 61418671 61418671 single base substitution C T intron_variant MELA-AU 14 61418750 61418750 single base substitution A G intron_variant MELA-AU 14 61418771 61418771 single base substitution C T intron_variant MELA-AU 14 61419562 61419562 single base substitution C T intron_variant MELA-AU 14 61420075 61420075 single base substitution C T intron_variant MELA-AU 14 61420446 61420447 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 14 61420525 61420525 single base substitution C T intron_variant MELA-AU 14 61420715 61420715 single base substitution T C intron_variant MELA-AU 14 61420821 61420821 single base substitution T A intron_variant MELA-AU 14 61420854 61420854 single base substitution T C intron_variant MELA-AU 14 61421091 61421091 single base substitution C T intron_variant MELA-AU 14 61421574 61421574 single base substitution T G intron_variant MELA-AU 14 61422127 61422127 single base substitution C T intron_variant MELA-AU 14 61422216 61422216 single base substitution C T intron_variant MELA-AU 14 61422543 61422543 single base substitution T A intron_variant MELA-AU 14 61422753 61422753 single base substitution T C intron_variant MELA-AU 14 61422957 61422957 single base substitution C T intron_variant MELA-AU 14 61422985 61422985 single base substitution T C intron_variant MELA-AU 14 61423280 61423280 single base substitution C A intron_variant MELA-AU 14 61423854 61423854 single base substitution C T intron_variant MELA-AU 14 61423857 61423857 single base substitution T A intron_variant MELA-AU 14 61424902 61424902 single base substitution A C intron_variant MELA-AU 14 61424932 61424932 single base substitution C T intron_variant MELA-AU 14 61425096 61425096 single base substitution C T intron_variant MELA-AU 14 61425276 61425276 single base substitution C T intron_variant MELA-AU 14 61425958 61425958 single base substitution C T intron_variant MELA-AU 14 61426589 61426589 single base substitution A T intron_variant MELA-AU 14 61427544 61427545 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 14 61427651 61427651 single base substitution T C intron_variant MELA-AU 14 61429661 61429662 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 14 61431004 61431004 single base substitution C T intron_variant MELA-AU 14 61431316 61431316 single base substitution G A intron_variant MELA-AU 14 61431511 61431511 single base substitution T G intron_variant MELA-AU 14 61433060 61433060 single base substitution A G intron_variant MELA-AU 14 61433353 61433353 single base substitution C T intron_variant MELA-AU 14 61433827 61433827 single base substitution A T intron_variant MELA-AU 14 61436568 61436568 single base substitution A G 3_prime_UTR_variant MELA-AU 14 61436568 61436568 single base substitution A G downstream_gene_variant MELA-AU 14 61437659 61437659 single base substitution A G downstream_gene_variant MELA-AU 14 61438457 61438457 single base substitution G A downstream_gene_variant MELA-AU 14 61438629 61438629 single base substitution G A downstream_gene_variant MELA-AU 14 61438704 61438704 single base substitution G A downstream_gene_variant MELA-AU 14 61438821 61438821 deletion of <=200bp A - downstream_gene_variant MELA-AU 14 61439589 61439589 single base substitution G A downstream_gene_variant MELA-AU 14 61441571 61441571 single base substitution A T downstream_gene_variant MELA-AU 14 61441666 61441666 single base substitution C T downstream_gene_variant ORCA-IN 14 61232875 61232875 single base substitution G T intron_variant ORCA-IN 14 61234375 61234375 single base substitution A T intron_variant ORCA-IN 14 61291909 61291909 single base substitution A G intron_variant ORCA-IN 14 61293192 61293192 single base substitution G T intron_variant ORCA-IN 14 61305906 61305906 single base substitution G C intron_variant ORCA-IN 14 61391121 61391121 single base substitution C T intron_variant ORCA-IN 14 61412413 61412413 single base substitution T C intron_variant ORCA-IN 14 61437268 61437268 single base substitution G A downstream_gene_variant OV-AU 14 61199372 61199372 single base substitution C A upstream_gene_variant OV-AU 14 61212323 61212323 single base substitution T C intron_variant OV-AU 14 61216058 61216058 single base substitution G A intron_variant OV-AU 14 61220482 61220482 single base substitution T G exon_variant OV-AU 14 61220482 61220482 single base substitution T G intron_variant OV-AU 14 61258099 61258099 single base substitution C G intron_variant OV-AU 14 61258099 61258099 single base substitution C G upstream_gene_variant OV-AU 14 61265694 61265694 single base substitution G T intron_variant OV-AU 14 61265695 61265695 single base substitution G T intron_variant OV-AU 14 61269880 61269880 single base substitution C A intron_variant OV-AU 14 61281275 61281275 single base substitution G T intron_variant OV-AU 14 61291824 61291824 single base substitution C T intron_variant OV-AU 14 61296221 61296221 single base substitution G C intron_variant OV-AU 14 61303239 61303239 single base substitution T G intron_variant OV-AU 14 61308713 61308713 single base substitution C T intron_variant OV-AU 14 61310056 61310056 single base substitution T A intron_variant OV-AU 14 61314066 61314066 single base substitution G A intron_variant OV-AU 14 61325816 61325816 single base substitution A G intron_variant OV-AU 14 61328654 61328654 single base substitution C G intron_variant OV-AU 14 61334631 61334631 single base substitution A G intron_variant OV-AU 14 61337661 61337661 single base substitution T C intron_variant OV-AU 14 61339687 61339687 single base substitution C A intron_variant OV-AU 14 61358373 61358373 single base substitution G A intron_variant OV-AU 14 61362757 61362757 single base substitution A C intron_variant OV-AU 14 61371038 61371038 single base substitution A T intron_variant OV-AU 14 61374293 61374293 single base substitution G C intron_variant OV-AU 14 61416527 61416527 single base substitution T G intron_variant OV-AU 14 61437790 61437790 single base substitution G A downstream_gene_variant OV-AU 14 61439076 61439076 single base substitution G A downstream_gene_variant PACA-AU 14 61198973 61198973 single base substitution A T upstream_gene_variant PACA-AU 14 61201786 61201786 single base substitution G A intron_variant PACA-AU 14 61207337 61207337 insertion of <=200bp - T intron_variant PACA-AU 14 61212186 61212186 single base substitution A G intron_variant PACA-AU 14 61213641 61213641 single base substitution T C intron_variant PACA-AU 14 61215606 61215606 single base substitution A G intron_variant PACA-AU 14 61217796 61217796 single base substitution T G intron_variant PACA-AU 14 61221931 61221931 single base substitution A T downstream_gene_variant PACA-AU 14 61221931 61221931 single base substitution A T intron_variant PACA-AU 14 61226324 61226324 single base substitution G T intron_variant PACA-AU 14 61226325 61226325 single base substitution G T intron_variant PACA-AU 14 61235966 61235966 single base substitution C T intron_variant PACA-AU 14 61237238 61237238 single base substitution C T intron_variant PACA-AU 14 61238678 61238678 single base substitution G A intron_variant PACA-AU 14 61264115 61264115 insertion of <=200bp - T intron_variant PACA-AU 14 61266354 61266354 single base substitution G A intron_variant PACA-AU 14 61272498 61272498 single base substitution T G intron_variant PACA-AU 14 61272498 61272498 single base substitution T G upstream_gene_variant PACA-AU 14 61273379 61273379 single base substitution C G intron_variant PACA-AU 14 61273379 61273379 single base substitution C G upstream_gene_variant PACA-AU 14 61276297 61276297 single base substitution C T downstream_gene_variant PACA-AU 14 61276297 61276297 single base substitution C T intron_variant PACA-AU 14 61276297 61276297 single base substitution C T upstream_gene_variant PACA-AU 14 61278145 61278145 single base substitution C T downstream_gene_variant PACA-AU 14 61278145 61278145 single base substitution C T intron_variant PACA-AU 14 61278145 61278145 single base substitution C T upstream_gene_variant PACA-AU 14 61280689 61280689 single base substitution C A downstream_gene_variant PACA-AU 14 61280689 61280689 single base substitution C A intron_variant PACA-AU 14 61288946 61288946 single base substitution C T downstream_gene_variant PACA-AU 14 61288946 61288946 single base substitution C T intron_variant PACA-AU 14 61297241 61297241 single base substitution T G intron_variant PACA-AU 14 61298546 61298546 single base substitution C T intron_variant PACA-AU 14 61299994 61299994 single base substitution C T intron_variant PACA-AU 14 61300345 61300345 single base substitution G T intron_variant PACA-AU 14 61301164 61301164 single base substitution A G intron_variant PACA-AU 14 61301642 61301642 insertion of <=200bp - CCTT intron_variant PACA-AU 14 61302978 61302978 single base substitution G C intron_variant PACA-AU 14 61305605 61305605 single base substitution G A intron_variant PACA-AU 14 61307839 61307839 single base substitution C G intron_variant PACA-AU 14 61311158 61311158 deletion of <=200bp T - intron_variant PACA-AU 14 61312081 61312081 single base substitution T C intron_variant PACA-AU 14 61312434 61312434 single base substitution C G intron_variant PACA-AU 14 61313393 61313393 single base substitution T A intron_variant PACA-AU 14 61319716 61319716 single base substitution C T intron_variant PACA-AU 14 61322471 61322471 single base substitution A C intron_variant PACA-AU 14 61322487 61322487 single base substitution C A intron_variant PACA-AU 14 61323672 61323672 single base substitution C A intron_variant PACA-AU 14 61325494 61325494 single base substitution A G intron_variant PACA-AU 14 61327314 61327314 single base substitution G A intron_variant PACA-AU 14 61329518 61329518 single base substitution G T intron_variant PACA-AU 14 61331522 61331522 single base substitution G A intron_variant PACA-AU 14 61331614 61331614 single base substitution C T intron_variant PACA-AU 14 61335763 61335763 single base substitution T A intron_variant PACA-AU 14 61338486 61338486 single base substitution G A intron_variant PACA-AU 14 61339253 61339253 deletion of <=200bp C - intron_variant PACA-AU 14 61344961 61344961 single base substitution A G intron_variant PACA-AU 14 61345585 61345585 single base substitution G A intron_variant PACA-AU 14 61346836 61346836 single base substitution C G downstream_gene_variant PACA-AU 14 61346836 61346836 single base substitution C G intron_variant PACA-AU 14 61347296 61347296 single base substitution C T downstream_gene_variant PACA-AU 14 61347296 61347296 single base substitution C T intron_variant PACA-AU 14 61348195 61348195 single base substitution C T downstream_gene_variant PACA-AU 14 61348195 61348195 single base substitution C T intron_variant PACA-AU 14 61359980 61359980 deletion of <=200bp T - intron_variant PACA-AU 14 61368986 61368986 deletion of <=200bp T - intron_variant PACA-AU 14 61369825 61369825 single base substitution C T intron_variant PACA-AU 14 61390847 61390847 deletion of <=200bp T - intron_variant PACA-AU 14 61391992 61391992 deletion of <=200bp A - intron_variant PACA-AU 14 61398577 61398577 single base substitution T A intron_variant PACA-AU 14 61398590 61398590 single base substitution G T intron_variant PACA-AU 14 61399534 61399534 deletion of <=200bp T - intron_variant PACA-AU 14 61405705 61405705 single base substitution C G intron_variant PACA-AU 14 61408380 61408380 single base substitution A G intron_variant PACA-AU 14 61408964 61408964 single base substitution A G intron_variant PACA-AU 14 61414419 61414419 single base substitution A T intron_variant PACA-AU 14 61416492 61416492 single base substitution G A intron_variant PACA-AU 14 61416901 61416901 deletion of <=200bp A - intron_variant PACA-AU 14 61421764 61421764 single base substitution G A intron_variant PACA-AU 14 61424641 61424641 single base substitution C T intron_variant PACA-AU 14 61425650 61425650 single base substitution C T intron_variant PACA-AU 14 61434902 61434902 single base substitution A G intron_variant PACA-AU 14 61434931 61434931 single base substitution T C intron_variant PACA-AU 14 61438350 61438350 deletion of <=200bp A - downstream_gene_variant PACA-AU 14 61441383 61441395 deletion of <=200bp CAGATTTGGCCTG - downstream_gene_variant PACA-CA 14 61196647 61196647 single base substitution T A upstream_gene_variant PACA-CA 14 61199625 61199625 single base substitution C T upstream_gene_variant PACA-CA 14 61200756 61200756 single base substitution T A upstream_gene_variant PACA-CA 14 61202401 61202401 deletion of <=200bp G - intron_variant PACA-CA 14 61209826 61209826 single base substitution C T intron_variant PACA-CA 14 61210167 61210167 single base substitution C T intron_variant PACA-CA 14 61216744 61216744 single base substitution A C intron_variant PACA-CA 14 61217939 61217939 single base substitution A G intron_variant PACA-CA 14 61218654 61218654 single base substitution T A intron_variant PACA-CA 14 61220292 61220292 single base substitution C G exon_variant PACA-CA 14 61220292 61220292 single base substitution C G intron_variant PACA-CA 14 61220716 61220716 single base substitution C T downstream_gene_variant PACA-CA 14 61220716 61220716 single base substitution C T intron_variant PACA-CA 14 61227515 61227515 insertion of <=200bp - C intron_variant PACA-CA 14 61233938 61233938 single base substitution G A intron_variant PACA-CA 14 61235305 61235305 single base substitution T C intron_variant PACA-CA 14 61236416 61236416 single base substitution C T intron_variant PACA-CA 14 61243294 61243294 single base substitution G A intron_variant PACA-CA 14 61243540 61243540 insertion of <=200bp - T intron_variant PACA-CA 14 61247797 61247797 single base substitution A G intron_variant PACA-CA 14 61255917 61255917 single base substitution G T intron_variant PACA-CA 14 61258860 61258860 deletion of <=200bp T - intron_variant PACA-CA 14 61258860 61258860 deletion of <=200bp T - upstream_gene_variant PACA-CA 14 61264016 61264016 single base substitution C T intron_variant PACA-CA 14 61266457 61266457 single base substitution G A intron_variant PACA-CA 14 61272574 61272574 single base substitution G T intron_variant PACA-CA 14 61272574 61272574 single base substitution G T upstream_gene_variant PACA-CA 14 61277680 61277680 single base substitution C T downstream_gene_variant PACA-CA 14 61277680 61277680 single base substitution C T intron_variant PACA-CA 14 61277680 61277680 single base substitution C T upstream_gene_variant PACA-CA 14 61280662 61280662 single base substitution A G downstream_gene_variant PACA-CA 14 61280662 61280662 single base substitution A G intron_variant PACA-CA 14 61285067 61285067 single base substitution T C intron_variant PACA-CA 14 61285269 61285269 single base substitution C T intron_variant PACA-CA 14 61286276 61286276 single base substitution G A downstream_gene_variant PACA-CA 14 61286276 61286276 single base substitution G A intron_variant PACA-CA 14 61289408 61289408 single base substitution C T downstream_gene_variant PACA-CA 14 61289408 61289408 single base substitution C T intron_variant PACA-CA 14 61295748 61295748 single base substitution C T intron_variant PACA-CA 14 61300302 61300302 single base substitution A G intron_variant PACA-CA 14 61303552 61303552 single base substitution C T intron_variant PACA-CA 14 61304211 61304211 single base substitution G A intron_variant PACA-CA 14 61311157 61311157 insertion of <=200bp - T intron_variant PACA-CA 14 61312539 61312539 single base substitution T C intron_variant PACA-CA 14 61316656 61316656 single base substitution G A intron_variant PACA-CA 14 61317725 61317725 single base substitution C A intron_variant PACA-CA 14 61319877 61319877 single base substitution G A intron_variant PACA-CA 14 61320350 61320350 single base substitution A G intron_variant PACA-CA 14 61321672 61321672 single base substitution C T intron_variant PACA-CA 14 61322834 61322834 single base substitution A T intron_variant PACA-CA 14 61324610 61324610 single base substitution A G intron_variant PACA-CA 14 61326623 61326631 deletion of <=200bp TGCTGGGTA - intron_variant PACA-CA 14 61331674 61331674 single base substitution C T intron_variant PACA-CA 14 61335581 61335581 single base substitution T C intron_variant PACA-CA 14 61337832 61337832 single base substitution T A intron_variant PACA-CA 14 61338536 61338536 single base substitution T C intron_variant PACA-CA 14 61341714 61341714 single base substitution T C intron_variant PACA-CA 14 61342287 61342287 single base substitution G A intron_variant PACA-CA 14 61343805 61343805 single base substitution C A intron_variant PACA-CA 14 61346439 61346439 single base substitution A C exon_variant PACA-CA 14 61346439 61346439 single base substitution A C missense_variant H127P 380A>C PACA-CA 14 61346439 61346439 single base substitution A C missense_variant H190P 569A>C PACA-CA 14 61346439 61346439 single base substitution A C missense_variant H232P 695A>C PACA-CA 14 61346439 61346439 single base substitution A C missense_variant H92P 275A>C PACA-CA 14 61347770 61347770 single base substitution C T downstream_gene_variant PACA-CA 14 61347770 61347770 single base substitution C T intron_variant PACA-CA 14 61348759 61348759 single base substitution A G downstream_gene_variant PACA-CA 14 61348759 61348759 single base substitution A G intron_variant PACA-CA 14 61348992 61348992 single base substitution C T downstream_gene_variant PACA-CA 14 61348992 61348992 single base substitution C T intron_variant PACA-CA 14 61351014 61351014 single base substitution G C downstream_gene_variant PACA-CA 14 61351014 61351014 single base substitution G C intron_variant PACA-CA 14 61357897 61357897 single base substitution T G intron_variant PACA-CA 14 61360133 61360133 single base substitution A G intron_variant PACA-CA 14 61366822 61366822 single base substitution C T intron_variant PACA-CA 14 61369674 61369674 single base substitution T A intron_variant PACA-CA 14 61371208 61371208 single base substitution T G intron_variant PACA-CA 14 61372240 61372240 single base substitution C T intron_variant PACA-CA 14 61374737 61374737 single base substitution G T intron_variant PACA-CA 14 61375735 61375735 deletion of <=200bp A - intron_variant PACA-CA 14 61377554 61377554 single base substitution C A intron_variant PACA-CA 14 61384674 61384674 single base substitution G A intron_variant PACA-CA 14 61385584 61385584 single base substitution A T intron_variant PACA-CA 14 61388789 61388789 single base substitution C G intron_variant PACA-CA 14 61391219 61391219 single base substitution G C intron_variant PACA-CA 14 61407091 61407091 single base substitution C A intron_variant PACA-CA 14 61421652 61421652 single base substitution C T intron_variant PACA-CA 14 61424571 61424571 single base substitution T G intron_variant PACA-CA 14 61427899 61427899 single base substitution C T intron_variant PACA-CA 14 61428324 61428324 insertion of <=200bp - T intron_variant PACA-CA 14 61431260 61431260 single base substitution T C intron_variant PACA-CA 14 61440535 61440535 single base substitution A T downstream_gene_variant PAEN-AU 14 61200335 61200335 single base substitution T C upstream_gene_variant PAEN-AU 14 61210556 61210556 single base substitution T A intron_variant PAEN-AU 14 61245684 61245684 single base substitution T G intron_variant PAEN-AU 14 61250072 61250072 single base substitution A C intron_variant PAEN-AU 14 61290337 61290337 single base substitution G T downstream_gene_variant PAEN-AU 14 61290337 61290337 single base substitution G T intron_variant PAEN-AU 14 61324602 61324602 single base substitution T C intron_variant PAEN-AU 14 61326478 61326478 single base substitution G A intron_variant PAEN-AU 14 61351474 61351474 single base substitution C T downstream_gene_variant PAEN-AU 14 61351474 61351474 single base substitution C T intron_variant PAEN-IT 14 61198071 61198071 single base substitution C A upstream_gene_variant PAEN-IT 14 61207050 61207050 single base substitution C T intron_variant PAEN-IT 14 61252751 61252751 single base substitution A G intron_variant PAEN-IT 14 61323990 61323990 single base substitution A G intron_variant PAEN-IT 14 61367557 61367557 single base substitution T C intron_variant PAEN-IT 14 61421258 61421258 single base substitution G C intron_variant PAEN-IT 14 61425891 61425891 single base substitution C T intron_variant PBCA-DE 14 61204118 61204119 deletion of <=200bp TA - intron_variant PBCA-DE 14 61206957 61206957 single base substitution C G intron_variant PBCA-DE 14 61208221 61208221 insertion of <=200bp - GT intron_variant PBCA-DE 14 61208227 61208228 deletion of <=200bp GC - intron_variant PBCA-DE 14 61209650 61209650 insertion of <=200bp - TCA intron_variant PBCA-DE 14 61219617 61219617 single base substitution G C intron_variant PBCA-DE 14 61221388 61221388 single base substitution C T downstream_gene_variant PBCA-DE 14 61221388 61221388 single base substitution C T intron_variant PBCA-DE 14 61222781 61222781 insertion of <=200bp - T downstream_gene_variant PBCA-DE 14 61222781 61222781 insertion of <=200bp - T intron_variant PBCA-DE 14 61225326 61225326 single base substitution C A downstream_gene_variant PBCA-DE 14 61225326 61225326 single base substitution C A intron_variant PBCA-DE 14 61225391 61225391 single base substitution A T downstream_gene_variant PBCA-DE 14 61225391 61225391 single base substitution A T intron_variant PBCA-DE 14 61228577 61228578 deletion of <=200bp AA - intron_variant PBCA-DE 14 61242395 61242395 insertion of <=200bp - T intron_variant PBCA-DE 14 61242527 61242527 single base substitution G A intron_variant PBCA-DE 14 61244162 61244162 single base substitution C A intron_variant PBCA-DE 14 61256647 61256647 single base substitution T A intron_variant PBCA-DE 14 61259897 61259899 deletion of <=200bp TGT - intron_variant PBCA-DE 14 61259897 61259899 deletion of <=200bp TGT - upstream_gene_variant PBCA-DE 14 61266456 61266457 deletion of <=200bp TG - intron_variant PBCA-DE 14 61270754 61270756 deletion of <=200bp ATT - intron_variant PBCA-DE 14 61270754 61270756 deletion of <=200bp ATT - upstream_gene_variant PBCA-DE 14 61278655 61278655 single base substitution G T downstream_gene_variant PBCA-DE 14 61278655 61278655 single base substitution G T intron_variant PBCA-DE 14 61278655 61278655 single base substitution G T upstream_gene_variant PBCA-DE 14 61282666 61282666 single base substitution T A intron_variant PBCA-DE 14 61287899 61287899 single base substitution T C downstream_gene_variant PBCA-DE 14 61287899 61287899 single base substitution T C intron_variant PBCA-DE 14 61314646 61314646 deletion of <=200bp T - intron_variant PBCA-DE 14 61321071 61321073 deletion of <=200bp GTT - intron_variant PBCA-DE 14 61326337 61326337 single base substitution C T intron_variant PBCA-DE 14 61327770 61327770 insertion of <=200bp - T intron_variant PBCA-DE 14 61338812 61338812 single base substitution G T intron_variant PBCA-DE 14 61338949 61338949 single base substitution G A intron_variant PBCA-DE 14 61340689 61340689 single base substitution G A intron_variant PBCA-DE 14 61346974 61346974 single base substitution A T downstream_gene_variant PBCA-DE 14 61346974 61346974 single base substitution A T intron_variant PBCA-DE 14 61348761 61348761 single base substitution C T downstream_gene_variant PBCA-DE 14 61348761 61348761 single base substitution C T intron_variant PBCA-DE 14 61353558 61353558 single base substitution T A intron_variant PBCA-DE 14 61359044 61359044 single base substitution A T intron_variant PBCA-DE 14 61361697 61361697 single base substitution G T intron_variant PBCA-DE 14 61375436 61375436 single base substitution A G intron_variant PBCA-DE 14 61385178 61385178 single base substitution G A intron_variant PBCA-DE 14 61393304 61393304 single base substitution T C intron_variant PBCA-DE 14 61411571 61411571 single base substitution A T intron_variant PBCA-DE 14 61414432 61414432 single base substitution A T intron_variant PBCA-DE 14 61429326 61429326 single base substitution C T intron_variant PRAD-CA 14 61200750 61200750 single base substitution T A upstream_gene_variant PRAD-CA 14 61207629 61207629 single base substitution A C intron_variant PRAD-CA 14 61207630 61207630 single base substitution G C intron_variant PRAD-CA 14 61226671 61226671 single base substitution T C intron_variant PRAD-CA 14 61238278 61238278 single base substitution C G intron_variant PRAD-CA 14 61244851 61244851 single base substitution C T intron_variant PRAD-CA 14 61248692 61248692 single base substitution A T intron_variant PRAD-CA 14 61248693 61248693 single base substitution T G intron_variant PRAD-CA 14 61262433 61262433 single base substitution C G intron_variant PRAD-CA 14 61262433 61262433 single base substitution C G upstream_gene_variant PRAD-CA 14 61291606 61291606 single base substitution A G intron_variant PRAD-CA 14 61301697 61301697 single base substitution A T intron_variant PRAD-CA 14 61335760 61335760 single base substitution T A intron_variant PRAD-CA 14 61349993 61349993 single base substitution A G downstream_gene_variant PRAD-CA 14 61349993 61349993 single base substitution A G intron_variant PRAD-CA 14 61352978 61352978 single base substitution A T intron_variant PRAD-CA 14 61394864 61394864 single base substitution T G intron_variant PRAD-CA 14 61413714 61413714 single base substitution G A intron_variant PRAD-CA 14 61432840 61432840 single base substitution C T intron_variant PRAD-UK 14 61223031 61223031 single base substitution A G downstream_gene_variant PRAD-UK 14 61223031 61223031 single base substitution A G intron_variant PRAD-UK 14 61243289 61243289 insertion of <=200bp - G intron_variant PRAD-UK 14 61249276 61249276 single base substitution C T intron_variant PRAD-UK 14 61251136 61251136 single base substitution A C intron_variant PRAD-UK 14 61266872 61266872 single base substitution A G intron_variant PRAD-UK 14 61299215 61299216 deletion of <=200bp GC - intron_variant PRAD-UK 14 61309595 61309595 single base substitution A C intron_variant PRAD-UK 14 61313780 61313780 single base substitution T G intron_variant PRAD-UK 14 61319087 61319087 single base substitution G C intron_variant PRAD-UK 14 61319146 61319146 single base substitution A T intron_variant PRAD-UK 14 61327024 61327024 single base substitution T C intron_variant PRAD-UK 14 61328893 61328897 deletion of <=200bp GCAAG - intron_variant PRAD-UK 14 61345127 61345127 single base substitution G C intron_variant PRAD-UK 14 61352197 61352198 deletion of <=200bp GT - intron_variant PRAD-UK 14 61357810 61357810 single base substitution A G intron_variant PRAD-UK 14 61373699 61373699 single base substitution T G intron_variant PRAD-UK 14 61397325 61397325 single base substitution A T intron_variant PRAD-UK 14 61401876 61401879 deletion of <=200bp AGTT - intron_variant PRAD-UK 14 61404766 61404766 single base substitution A T intron_variant PRAD-UK 14 61408804 61408806 deletion of <=200bp TCT - intron_variant PRAD-UK 14 61412339 61412339 single base substitution A G intron_variant PRAD-UK 14 61414469 61414469 single base substitution A G intron_variant PRAD-UK 14 61419207 61419207 single base substitution T C intron_variant PRAD-UK 14 61434006 61434006 single base substitution T G intron_variant RECA-EU 14 61198373 61198373 single base substitution T C upstream_gene_variant RECA-EU 14 61199161 61199161 single base substitution G T upstream_gene_variant RECA-EU 14 61200952 61200952 single base substitution T G upstream_gene_variant RECA-EU 14 61203394 61203394 single base substitution A G intron_variant RECA-EU 14 61220762 61220762 single base substitution C A downstream_gene_variant RECA-EU 14 61220762 61220762 single base substitution C A intron_variant RECA-EU 14 61228600 61228600 single base substitution G T intron_variant RECA-EU 14 61229423 61229423 single base substitution C A intron_variant RECA-EU 14 61230116 61230116 single base substitution T C intron_variant RECA-EU 14 61253772 61253772 single base substitution A T intron_variant RECA-EU 14 61255357 61255357 single base substitution G A intron_variant RECA-EU 14 61262486 61262486 single base substitution T C intron_variant RECA-EU 14 61262486 61262486 single base substitution T C upstream_gene_variant RECA-EU 14 61265461 61265461 single base substitution T G intron_variant RECA-EU 14 61277646 61277646 single base substitution G A downstream_gene_variant RECA-EU 14 61277646 61277646 single base substitution G A intron_variant RECA-EU 14 61277646 61277646 single base substitution G A upstream_gene_variant RECA-EU 14 61291851 61291851 single base substitution G A intron_variant RECA-EU 14 61291852 61291852 single base substitution G A intron_variant RECA-EU 14 61292512 61292512 single base substitution T A intron_variant RECA-EU 14 61293033 61293033 single base substitution T C intron_variant RECA-EU 14 61300005 61300005 single base substitution C T intron_variant RECA-EU 14 61310305 61310305 single base substitution A G intron_variant RECA-EU 14 61321475 61321475 single base substitution C G intron_variant RECA-EU 14 61324605 61324605 single base substitution C T intron_variant RECA-EU 14 61326593 61326593 single base substitution G A intron_variant RECA-EU 14 61331180 61331180 single base substitution A C intron_variant RECA-EU 14 61357772 61357772 single base substitution G C intron_variant RECA-EU 14 61360394 61360394 single base substitution T C intron_variant RECA-EU 14 61360789 61360789 single base substitution G T intron_variant RECA-EU 14 61392403 61392403 single base substitution A G intron_variant RECA-EU 14 61393689 61393689 single base substitution G C intron_variant RECA-EU 14 61394487 61394487 single base substitution C A intron_variant RECA-EU 14 61400510 61400510 single base substitution T G intron_variant RECA-EU 14 61411536 61411536 single base substitution G A intron_variant RECA-EU 14 61412170 61412170 single base substitution A G intron_variant RECA-EU 14 61412333 61412333 single base substitution T A intron_variant RECA-EU 14 61428006 61428006 single base substitution G A intron_variant RECA-EU 14 61433318 61433318 single base substitution C A intron_variant RECA-EU 14 61435872 61435872 single base substitution T A 3_prime_UTR_variant RECA-EU 14 61435872 61435872 single base substitution T A downstream_gene_variant SKCA-BR 14 61198605 61198605 single base substitution C T upstream_gene_variant SKCA-BR 14 61200790 61200790 single base substitution T A upstream_gene_variant SKCA-BR 14 61201461 61201461 single base substitution G A exon_variant SKCA-BR 14 61201461 61201461 single base substitution G A upstream_gene_variant SKCA-BR 14 61201855 61201855 single base substitution C T intron_variant SKCA-BR 14 61204676 61204676 single base substitution C T intron_variant SKCA-BR 14 61204677 61204677 single base substitution C T intron_variant SKCA-BR 14 61204880 61204880 single base substitution A C intron_variant SKCA-BR 14 61204916 61204916 single base substitution A T intron_variant SKCA-BR 14 61213625 61213671 deletion of <=200bp TATATATATATATATATACACACACACACACACACACACACACACAC - intron_variant SKCA-BR 14 61213641 61213667 deletion of <=200bp TACACACACACACACACACACACACAC - intron_variant SKCA-BR 14 61215005 61215005 single base substitution G A intron_variant SKCA-BR 14 61216437 61216437 single base substitution C T intron_variant SKCA-BR 14 61217365 61217365 single base substitution A T intron_variant SKCA-BR 14 61223265 61223266 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 14 61223265 61223266 deletion of <=200bp TA - intron_variant SKCA-BR 14 61225684 61225684 single base substitution C T intron_variant SKCA-BR 14 61226990 61226990 single base substitution G C intron_variant SKCA-BR 14 61227516 61227516 single base substitution C T intron_variant SKCA-BR 14 61229411 61229411 single base substitution G A intron_variant SKCA-BR 14 61229489 61229489 single base substitution C T intron_variant SKCA-BR 14 61233578 61233578 single base substitution T A intron_variant SKCA-BR 14 61234261 61234261 single base substitution C T intron_variant SKCA-BR 14 61236183 61236183 single base substitution C T intron_variant SKCA-BR 14 61238406 61238406 single base substitution C T intron_variant SKCA-BR 14 61238746 61238746 single base substitution C T intron_variant SKCA-BR 14 61239882 61239882 single base substitution C T intron_variant SKCA-BR 14 61244455 61244455 single base substitution C T intron_variant SKCA-BR 14 61252787 61252787 single base substitution G A intron_variant SKCA-BR 14 61254134 61254134 single base substitution T A intron_variant SKCA-BR 14 61255574 61255574 single base substitution T G intron_variant SKCA-BR 14 61261376 61261376 insertion of <=200bp - ATAT intron_variant SKCA-BR 14 61261376 61261376 insertion of <=200bp - ATAT upstream_gene_variant SKCA-BR 14 61261376 61261376 insertion of <=200bp - AT intron_variant SKCA-BR 14 61261376 61261376 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 14 61261377 61261377 single base substitution A T intron_variant SKCA-BR 14 61261377 61261377 single base substitution A T upstream_gene_variant SKCA-BR 14 61264199 61264199 single base substitution C T intron_variant SKCA-BR 14 61265267 61265267 single base substitution C T intron_variant SKCA-BR 14 61266625 61266625 single base substitution A T intron_variant SKCA-BR 14 61273287 61273287 single base substitution C T intron_variant SKCA-BR 14 61273287 61273287 single base substitution C T upstream_gene_variant SKCA-BR 14 61283976 61283976 single base substitution C T intron_variant SKCA-BR 14 61293032 61293032 insertion of <=200bp - TC intron_variant SKCA-BR 14 61293033 61293033 single base substitution T C intron_variant SKCA-BR 14 61299396 61299396 single base substitution C T intron_variant SKCA-BR 14 61300567 61300567 single base substitution C T intron_variant SKCA-BR 14 61302722 61302722 single base substitution C T intron_variant SKCA-BR 14 61306199 61306199 single base substitution C T intron_variant SKCA-BR 14 61306303 61306303 single base substitution T G intron_variant SKCA-BR 14 61307927 61307927 single base substitution C T intron_variant SKCA-BR 14 61310942 61310942 single base substitution C T intron_variant SKCA-BR 14 61311749 61311749 single base substitution C T intron_variant SKCA-BR 14 61312419 61312419 single base substitution C T intron_variant SKCA-BR 14 61316352 61316352 single base substitution C T intron_variant SKCA-BR 14 61318606 61318606 single base substitution T G intron_variant SKCA-BR 14 61322225 61322225 single base substitution T C intron_variant SKCA-BR 14 61327072 61327072 insertion of <=200bp - CT intron_variant SKCA-BR 14 61335741 61335741 insertion of <=200bp - CATATATATAT intron_variant SKCA-BR 14 61335741 61335741 insertion of <=200bp - CATAT intron_variant SKCA-BR 14 61335741 61335741 insertion of <=200bp - CAT intron_variant SKCA-BR 14 61335756 61335756 insertion of <=200bp - AT intron_variant SKCA-BR 14 61336519 61336519 single base substitution C T intron_variant SKCA-BR 14 61339266 61339266 single base substitution A T intron_variant SKCA-BR 14 61340251 61340251 single base substitution A G intron_variant SKCA-BR 14 61340653 61340653 single base substitution C T intron_variant SKCA-BR 14 61348793 61348793 single base substitution C T downstream_gene_variant SKCA-BR 14 61348793 61348793 single base substitution C T intron_variant SKCA-BR 14 61353325 61353325 single base substitution C T intron_variant SKCA-BR 14 61356144 61356144 single base substitution C T intron_variant SKCA-BR 14 61357980 61357980 single base substitution T A intron_variant SKCA-BR 14 61360389 61360389 single base substitution C T intron_variant SKCA-BR 14 61364850 61364860 deletion of <=200bp TGTGTGTGTGC - intron_variant SKCA-BR 14 61364854 61364860 deletion of <=200bp TGTGTGC - intron_variant SKCA-BR 14 61365061 61365061 single base substitution C T intron_variant SKCA-BR 14 61366302 61366302 single base substitution C G intron_variant SKCA-BR 14 61368922 61368922 single base substitution C T intron_variant SKCA-BR 14 61369449 61369449 single base substitution A C intron_variant SKCA-BR 14 61370583 61370583 insertion of <=200bp - GT intron_variant SKCA-BR 14 61372474 61372474 single base substitution C T intron_variant SKCA-BR 14 61374252 61374252 single base substitution C T intron_variant SKCA-BR 14 61378291 61378291 single base substitution C T intron_variant SKCA-BR 14 61378648 61378648 single base substitution C T intron_variant SKCA-BR 14 61379627 61379627 single base substitution C T intron_variant SKCA-BR 14 61380697 61380697 single base substitution C T intron_variant SKCA-BR 14 61384007 61384007 single base substitution C G intron_variant SKCA-BR 14 61384329 61384329 insertion of <=200bp - TG intron_variant SKCA-BR 14 61388770 61388770 single base substitution C T intron_variant SKCA-BR 14 61391946 61391946 single base substitution C T intron_variant SKCA-BR 14 61396924 61396924 insertion of <=200bp - TTTA intron_variant SKCA-BR 14 61398608 61398608 single base substitution C T intron_variant SKCA-BR 14 61402531 61402531 single base substitution C T intron_variant SKCA-BR 14 61403622 61403623 deletion of <=200bp TA - intron_variant SKCA-BR 14 61403957 61403957 single base substitution T C intron_variant SKCA-BR 14 61403958 61403958 single base substitution G A intron_variant SKCA-BR 14 61404489 61404489 single base substitution T G intron_variant SKCA-BR 14 61404674 61404674 single base substitution G T intron_variant SKCA-BR 14 61414734 61414734 single base substitution C T intron_variant SKCA-BR 14 61418840 61418840 single base substitution C T intron_variant SKCA-BR 14 61420796 61420796 single base substitution C T intron_variant SKCA-BR 14 61421279 61421279 single base substitution G A intron_variant SKCA-BR 14 61425352 61425352 insertion of <=200bp - CT intron_variant SKCA-BR 14 61427869 61427869 single base substitution G A intron_variant SKCA-BR 14 61427870 61427870 single base substitution G A intron_variant SKCA-BR 14 61436027 61436027 single base substitution C T 3_prime_UTR_variant SKCA-BR 14 61436027 61436027 single base substitution C T downstream_gene_variant SKCA-BR 14 61440305 61440305 single base substitution G A downstream_gene_variant SKCA-BR 14 61440306 61440306 single base substitution G A downstream_gene_variant SKCM-US 14 61201633 61201633 single base substitution C T exon_variant SKCM-US 14 61201633 61201633 single base substitution C T missense_variant S18F 53C>T SKCM-US 14 61264836 61264836 single base substitution C G exon_variant SKCM-US 14 61264836 61264836 single base substitution C G intron_variant SKCM-US 14 61264836 61264836 single base substitution C G missense_variant L92V 274C>G STAD-US 14 61201664 61201667 deletion of <=200bp CACT - frameshift_variant HT28 STAD-US 14 61201664 61201667 deletion of <=200bp CACT - splice_region_variant STAD-US 14 61346450 61346450 single base substitution G C exon_variant STAD-US 14 61346450 61346450 single base substitution G C missense_variant A131P 391G>C STAD-US 14 61346450 61346450 single base substitution G C missense_variant A194P 580G>C STAD-US 14 61346450 61346450 single base substitution G C missense_variant A236P 706G>C STAD-US 14 61346450 61346450 single base substitution G C missense_variant A96P 286G>C STAD-US 14 61346478 61346478 single base substitution T C exon_variant STAD-US 14 61346478 61346478 single base substitution T C missense_variant L105P 314T>C STAD-US 14 61346478 61346478 single base substitution T C missense_variant L140P 419T>C STAD-US 14 61346478 61346478 single base substitution T C missense_variant L203P 608T>C STAD-US 14 61346478 61346478 single base substitution T C missense_variant L245P 734T>C UCEC-US 14 61246821 61246821 single base substitution C G intron_variant UCEC-US 14 61247047 61247047 single base substitution G T intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 113368 COSM94722 c.166A>G p.S56G Substitution - Missense 14:60796293-60796293 + TCGA-AK-3447-01 COSM1493262 c.144G>T p.E48D Substitution - Missense 14:60796271-60796271 + I2L-P6-Tumor-Biopsy COSM5362631 c.825C>A p.V275V Substitution - coding silent 14:60968244-60968244 + EV003-R7 COSM4410654 c.13G>A p.G5S Substitution - Missense 14:60734875-60734875 + PT27 COSM5905966 c.489A>T p.L163F Substitution - Missense 14:60812055-60812055 + TCGA-B9-7268-01 COSM3987706 c.822T>C p.H274H Substitution - coding silent 14:60968241-60968241 + Gp2D COSM2247010 c.696T>C p.H232H Substitution - coding silent 14:60879722-60879722 + ESO-185 COSM1257847 c.125G>A p.G42E Substitution - Missense 14:60796252-60796252 + TCGA-CG-4444-01 COSM4051592 c.706G>C p.A236P Substitution - Missense 14:60879732-60879732 + YUTRAIN COSM5382414 c.289G>A p.D97N Substitution - Missense 14:60798133-60798133 + EV003-R3 COSM4410654 c.13G>A p.G5S Substitution - Missense 14:60734875-60734875 + ME024T COSM226299 c.274_275CT>TA p.L92>? Complex 14:60798118-60798119 + TCGA-EE-A3AF-06 COSM1188837 c.274C>G p.L92V Substitution - Missense 14:60798118-60798118 + TCGA-EV-5903-01 COSM3987707 c.849T>C p.L283L Substitution - coding silent 14:60968268-60968268 + Au5 COSM5605882 c.268C>T p.P90S Substitution - Missense 14:60798112-60798112 + HCC32T COSM1607811 c.673A>G p.T225A Substitution - Missense 14:60818833-60818833 + TCGA-20-1683-01 COSM1323462 c.809G>C p.G270A Substitution - Missense 14:60879835-60879835 + CSCC-56-T COSM4492636 c.400C>T p.Q134* Substitution - Nonsense 14:60808408-60808408 + 381_T COSM3956128 c.465A>G p.R155R Substitution - coding silent 14:60812031-60812031 + TCGA-A6-6653-01 COSM1370373 c.539A>C p.K180T Substitution - Missense 14:60812105-60812105 + 113368 COSM94722 c.166A>G p.S56G Substitution - Missense 14:60796293-60796293 + TCGA-CM-6162-01 COSM1370372 c.420+2T>C p.? Unknown 14:60808430-60808430 + TCGA-GN-A265-06 COSM3496675 c.53C>T p.S18F Substitution - Missense 14:60734915-60734915 + PD5961a COSM5791426 c.158T>A p.L53H Substitution - Missense 14:60796285-60796285 + BD121T COSM5515545 c.487T>C p.L163L Substitution - coding silent 14:60812053-60812053 + EV003-R9 COSM4410654 c.13G>A p.G5S Substitution - Missense 14:60734875-60734875 + ESCC_86 COSM5636540 c.44G>A p.R15Q Substitution - Missense 14:60734906-60734906 + Gp5D COSM2247010 c.696T>C p.H232H Substitution - coding silent 14:60879722-60879722 + PD7243a COSM5382415 c.424C>T p.R142* Substitution - Nonsense 14:60811990-60811990 + EV003-R5 COSM4410654 c.13G>A p.G5S Substitution - Missense 14:60734875-60734875 + 01-P131 COSM4577927 c.164A>G p.K55R Substitution - Missense 14:60796291-60796291 + B57 COSM1748911 c.161G>C p.R54T Substitution - Missense 14:60796288-60796288 + TCGA-A2-A0D1-01 COSM433199 c.611G>C p.R204T Substitution - Missense 14:60818771-60818771 + EV003-R4 COSM4410654 c.13G>A p.G5S Substitution - Missense 14:60734875-60734875 + TCGA-BR-6452-01 COSM4051593 c.734T>C p.L245P Substitution - Missense 14:60879760-60879760 + TCGA-23-1023-01 COSM82244 c.612A>G p.R204R Substitution - coding silent 14:60818772-60818772 + PD22363a COSM5080530 c.420+4G>A p.? Unknown 14:60808432-60808432 + I2L-P6-Tumor-Organoid COSM5362631 c.825C>A p.V275V Substitution - coding silent 14:60968244-60968244 + HCC32 COSM1607811 c.673A>G p.T225A Substitution - Missense 14:60818833-60818833 + 188 COSM1741550 c.125G>T p.G42V Substitution - Missense 14:60796252-60796252 + 74 COSM4777695 c.501_502insA p.E168fs*13 Insertion - Frameshift 14:60812067-60812068 + Pat_41_B COSM5848261 c.614C>T p.S205F Substitution - Missense 14:60818774-60818774 + PCSI_0469_Pa_P_526 COSM4808821 c.695A>C p.H232P Substitution - Missense 14:60879721-60879721 + EV003-R1 COSM4410654 c.13G>A p.G5S Substitution - Missense 14:60734875-60734875 + HN_62897 COSM124472 c.345G>T p.L115F Substitution - Missense 14:60808353-60808353 + EV003-R2 COSM4410654 c.13G>A p.G5S Substitution - Missense 14:60734875-60734875 + 1604875 COSM141435 c.649C>T p.P217S Substitution - Missense 14:60818809-60818809 + LC_S15 COSM1188837 c.274C>G p.L92V Substitution - Missense 14:60798118-60798118 + YUMER COSM1707410 c.691C>T p.Q231* Substitution - Nonsense 14:60879717-60879717 + EV003-R6 COSM4410654 c.13G>A p.G5S Substitution - Missense 14:60734875-60734875 + TCGA-61-2104-01 COSM115929 c.511C>G p.L171V Substitution - Missense 14:60812077-60812077 + T3080 COSM4702777 c.497delA p.E168fs*8 Deletion - Frameshift 14:60812063-60812063 + LUAD-YINHD COSM348960 c.90-1G>T p.? Unknown 14:60796216-60796216 + ccRCC-88 COSM1662823 c.658C>A p.P220T Substitution - Missense 14:60818818-60818818 + BD173T COSM5500583 c.409A>G p.K137E Substitution - Missense 14:60808417-60808417 + 587238 COSM1215315 c.884G>A p.R295K Substitution - Missense 14:60968303-60968303 + TCGA-DD-A73E-01 COSM4913023 c.354C>T p.T118T Substitution - coding silent 14:60808362-60808362 + TCGA-DK-A1AC-01 COSM1300720 c.598C>T p.Q200* Substitution - Nonsense 14:60818758-60818758 + TCGA-A7-A26H-01 COSM1477666 c.827G>C p.R276T Substitution - Missense 14:60968246-60968246 + YULAD COSM5382415 c.424C>T p.R142* Substitution - Nonsense 14:60811990-60811990 + B57-Tumor COSM1748911 c.161G>C p.R54T Substitution - Missense 14:60796288-60796288 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.509523 14q23 602659 2453693|CGAP|BC000820|A/G|non-coding||1270|Candidate; 1526324|dbSNP|BC000820|A/C|non-coding||1291|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.S56G c.166A>G 14 61263011 SCLC A G Synonymous p.R204R c.612A>G 14 61285490 OV A T Nonsense p.K20* c.58A>T 14 61201638 LUAD C G Missense p.L171V c.511C>G 14 61278795 OV C G Missense p.L92V c.274C>G 14 61264836 CM C T IntronicSNV . c.809+89C>T 14 61346642 CM C T IntronicSNV . c.89+6484C>T 14 61208153 CLL C T Missense p.L30F c.88C>T 14 61201668 HNSC C T Missense p.R8W c.22C>T 14 61201602 HNSC C T Missense p.S18F c.53C>T 14 61201633 CM CT TA Missense p.L92* c.274_275delinsTA 14 61264836 CM G A Missense p.A43T c.127G>A 14 61262972 COREAD G A Missense p.G42E c.125G>A 14 61262970 ESCA G C Missense p.A236P c.706G>C 14 61346450 STAD G C Missense p.R204T c.611G>C 14 61285489 BRCA G C Missense p.R276T c.827G>C 14 61434964 BRCA G T IntronicSNV . c.809+55G>T 14 61346608 MB G T Missense p.L115F c.345G>T 14 61275071 HNSC T C IntronicSNV . c.687+29609T>C 14 61315174 CLL T C IntronicSNV . c.810-25180T>C 14 61409767 CLL