Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 20 31519077 31519077 single base substitution C T missense_variant R332W 994C>T BOCA-UK 20 31473428 31473428 single base substitution G A synonymous_variant S183S 549G>A BRCA-EU 20 31442549 31442550 deletion of <=200bp AT - upstream_gene_variant BRCA-EU 20 31442631 31442631 single base substitution A G upstream_gene_variant BRCA-EU 20 31444718 31444718 single base substitution G A upstream_gene_variant BRCA-EU 20 31446452 31446452 single base substitution G A upstream_gene_variant BRCA-EU 20 31447909 31447909 insertion of <=200bp - TT intron_variant BRCA-EU 20 31448200 31448200 deletion of <=200bp T - intron_variant BRCA-EU 20 31449211 31449211 single base substitution C T intron_variant BRCA-EU 20 31450397 31450397 single base substitution C T intron_variant BRCA-EU 20 31450972 31450972 single base substitution C T intron_variant BRCA-EU 20 31451002 31451002 single base substitution G A intron_variant BRCA-EU 20 31452370 31452370 single base substitution G A intron_variant BRCA-EU 20 31452376 31452376 single base substitution G A intron_variant BRCA-EU 20 31452659 31452659 single base substitution G A intron_variant BRCA-EU 20 31453000 31453012 deletion of <=200bp CAGTGATGACTGT - intron_variant BRCA-EU 20 31453528 31453528 single base substitution C A intron_variant BRCA-EU 20 31454071 31454071 single base substitution T C intron_variant BRCA-EU 20 31454443 31454443 single base substitution G C intron_variant BRCA-EU 20 31457284 31457284 single base substitution C G intron_variant BRCA-EU 20 31459063 31459063 insertion of <=200bp - T intron_variant BRCA-EU 20 31459164 31459164 single base substitution C G intron_variant BRCA-EU 20 31459590 31459590 single base substitution C A intron_variant BRCA-EU 20 31461154 31461154 single base substitution G A intron_variant BRCA-EU 20 31464776 31464776 single base substitution G T intron_variant BRCA-EU 20 31465061 31465061 single base substitution C T intron_variant BRCA-EU 20 31465207 31465207 single base substitution G T intron_variant BRCA-EU 20 31468126 31468126 single base substitution G T intron_variant BRCA-EU 20 31468889 31468889 single base substitution A G intron_variant BRCA-EU 20 31471535 31471535 single base substitution C A intron_variant BRCA-EU 20 31471793 31471793 single base substitution C T intron_variant BRCA-EU 20 31472155 31472155 single base substitution G T intron_variant BRCA-EU 20 31472480 31472480 single base substitution C G intron_variant BRCA-EU 20 31472908 31472908 single base substitution C G intron_variant BRCA-EU 20 31473686 31473686 single base substitution C G intron_variant BRCA-EU 20 31473720 31473720 single base substitution C G intron_variant BRCA-EU 20 31473754 31473754 single base substitution C G intron_variant BRCA-EU 20 31474025 31474025 single base substitution C G intron_variant BRCA-EU 20 31474158 31474158 single base substitution C G intron_variant BRCA-EU 20 31474231 31474231 single base substitution C G intron_variant BRCA-EU 20 31474949 31474949 single base substitution C T intron_variant BRCA-EU 20 31475432 31475432 single base substitution C G intron_variant BRCA-EU 20 31475550 31475550 single base substitution C T intron_variant BRCA-EU 20 31475664 31475664 single base substitution G A intron_variant BRCA-EU 20 31475976 31475976 single base substitution C G intron_variant BRCA-EU 20 31476066 31476066 single base substitution C T intron_variant BRCA-EU 20 31476247 31476247 single base substitution C G intron_variant BRCA-EU 20 31476269 31476269 single base substitution C T intron_variant BRCA-EU 20 31476273 31476273 single base substitution C A intron_variant BRCA-EU 20 31476592 31476592 single base substitution C A intron_variant BRCA-EU 20 31476790 31476790 single base substitution C G intron_variant BRCA-EU 20 31476844 31476844 single base substitution G C intron_variant BRCA-EU 20 31477238 31477238 single base substitution C G intron_variant BRCA-EU 20 31477413 31477413 single base substitution C G intron_variant BRCA-EU 20 31477501 31477501 single base substitution C T intron_variant BRCA-EU 20 31478432 31478432 single base substitution G A intron_variant BRCA-EU 20 31479172 31479172 single base substitution C T intron_variant BRCA-EU 20 31479502 31479502 single base substitution C G intron_variant BRCA-EU 20 31479553 31479553 single base substitution C T intron_variant BRCA-EU 20 31481135 31481135 single base substitution G A intron_variant BRCA-EU 20 31481518 31481518 single base substitution G C intron_variant BRCA-EU 20 31481518 31481518 single base substitution G C upstream_gene_variant BRCA-EU 20 31481910 31481910 single base substitution T A intron_variant BRCA-EU 20 31481910 31481910 single base substitution T A upstream_gene_variant BRCA-EU 20 31483041 31483041 single base substitution G A intron_variant BRCA-EU 20 31483041 31483041 single base substitution G A upstream_gene_variant BRCA-EU 20 31485761 31485761 single base substitution G C intron_variant BRCA-EU 20 31485761 31485761 single base substitution G C upstream_gene_variant BRCA-EU 20 31487325 31487327 deletion of <=200bp CTT - intron_variant BRCA-EU 20 31487410 31487410 single base substitution C T intron_variant BRCA-EU 20 31488548 31488548 single base substitution C A intron_variant BRCA-EU 20 31489429 31489429 single base substitution C T intron_variant BRCA-EU 20 31493084 31493084 single base substitution A G downstream_gene_variant BRCA-EU 20 31493084 31493084 single base substitution A G intron_variant BRCA-EU 20 31493612 31493612 single base substitution G C downstream_gene_variant BRCA-EU 20 31493612 31493612 single base substitution G C intron_variant BRCA-EU 20 31493963 31493963 single base substitution T A downstream_gene_variant BRCA-EU 20 31493963 31493963 single base substitution T A intron_variant BRCA-EU 20 31494944 31494944 single base substitution G A downstream_gene_variant BRCA-EU 20 31494944 31494944 single base substitution G A intragenic_variant BRCA-EU 20 31494944 31494944 single base substitution G A upstream_gene_variant BRCA-EU 20 31497221 31497221 single base substitution C T downstream_gene_variant BRCA-EU 20 31497221 31497221 single base substitution C T intragenic_variant BRCA-EU 20 31497221 31497221 single base substitution C T upstream_gene_variant BRCA-EU 20 31498332 31498332 single base substitution G A downstream_gene_variant BRCA-EU 20 31498332 31498332 single base substitution G A intragenic_variant BRCA-EU 20 31498332 31498332 single base substitution G A upstream_gene_variant BRCA-EU 20 31499855 31499855 single base substitution G C intron_variant BRCA-EU 20 31500675 31500675 single base substitution G T splice_region_variant BRCA-EU 20 31500675 31500675 single base substitution G T upstream_gene_variant BRCA-EU 20 31500956 31500956 single base substitution C T intron_variant BRCA-EU 20 31500956 31500956 single base substitution C T upstream_gene_variant BRCA-EU 20 31503483 31503483 single base substitution T C intron_variant BRCA-EU 20 31503483 31503483 single base substitution T C upstream_gene_variant BRCA-EU 20 31504719 31504719 single base substitution G T intron_variant BRCA-EU 20 31504719 31504719 single base substitution G T upstream_gene_variant BRCA-EU 20 31505493 31505493 single base substitution T G intron_variant BRCA-EU 20 31506866 31506866 single base substitution C G intron_variant BRCA-EU 20 31507032 31507032 single base substitution A G intron_variant BRCA-EU 20 31507655 31507655 single base substitution C T intron_variant BRCA-EU 20 31510557 31510561 deletion of <=200bp AGAGA - downstream_gene_variant BRCA-EU 20 31510557 31510561 deletion of <=200bp AGAGA - intron_variant BRCA-EU 20 31511314 31511314 single base substitution C A downstream_gene_variant BRCA-EU 20 31511314 31511314 single base substitution C A intron_variant BRCA-EU 20 31511871 31511871 single base substitution T G downstream_gene_variant BRCA-EU 20 31511871 31511871 single base substitution T G intron_variant BRCA-EU 20 31512545 31512545 single base substitution G C downstream_gene_variant BRCA-EU 20 31512545 31512545 single base substitution G C intron_variant BRCA-EU 20 31512703 31512703 single base substitution C T downstream_gene_variant BRCA-EU 20 31512703 31512703 single base substitution C T intron_variant BRCA-EU 20 31513773 31513773 single base substitution G A intron_variant BRCA-EU 20 31513925 31513925 single base substitution A T intron_variant BRCA-EU 20 31513943 31513943 single base substitution G A intron_variant BRCA-EU 20 31516239 31516239 single base substitution C T intron_variant BRCA-EU 20 31516663 31516663 single base substitution G A intron_variant BRCA-EU 20 31518109 31518109 single base substitution G A intron_variant BRCA-EU 20 31518916 31518916 single base substitution G C intron_variant BRCA-EU 20 31520479 31520479 single base substitution G C downstream_gene_variant BRCA-EU 20 31520479 31520479 single base substitution G C intragenic_variant BRCA-EU 20 31521358 31521358 single base substitution C G downstream_gene_variant BRCA-EU 20 31521358 31521358 single base substitution C G intragenic_variant BRCA-EU 20 31522415 31522415 single base substitution T C downstream_gene_variant BRCA-EU 20 31522415 31522415 single base substitution T C intragenic_variant BRCA-EU 20 31523132 31523132 single base substitution G C downstream_gene_variant BRCA-EU 20 31523132 31523132 single base substitution G C intragenic_variant BRCA-EU 20 31526679 31526679 single base substitution C G intragenic_variant BRCA-EU 20 31527387 31527387 single base substitution C T intragenic_variant BRCA-EU 20 31528317 31528317 single base substitution C T intragenic_variant BRCA-EU 20 31529447 31529447 single base substitution C T intragenic_variant BRCA-EU 20 31529609 31529609 single base substitution G C intragenic_variant BRCA-EU 20 31529888 31529888 deletion of <=200bp T - intragenic_variant BRCA-EU 20 31529936 31529936 single base substitution G A intragenic_variant BRCA-EU 20 31530757 31530757 single base substitution G A intragenic_variant BRCA-EU 20 31531700 31531700 single base substitution G T intragenic_variant BRCA-EU 20 31532866 31532866 single base substitution G A intragenic_variant BRCA-EU 20 31534890 31534890 single base substitution C T intragenic_variant BRCA-EU 20 31536596 31536596 single base substitution C T intragenic_variant BRCA-EU 20 31536806 31536806 deletion of <=200bp A - intragenic_variant BRCA-EU 20 31537805 31537805 single base substitution C G intragenic_variant BRCA-EU 20 31538184 31538187 deletion of <=200bp ACTT - intragenic_variant BRCA-EU 20 31538427 31538427 single base substitution T C intragenic_variant BRCA-EU 20 31538821 31538821 single base substitution G C intragenic_variant BRCA-EU 20 31539619 31539619 single base substitution C T intragenic_variant BRCA-EU 20 31539913 31539913 single base substitution T G intragenic_variant BRCA-EU 20 31540664 31540664 single base substitution C T intragenic_variant BRCA-EU 20 31541344 31541344 single base substitution G T intragenic_variant BRCA-EU 20 31541395 31541395 single base substitution C G intragenic_variant BRCA-EU 20 31542540 31542540 deletion of <=200bp A - intragenic_variant BRCA-EU 20 31542576 31542576 single base substitution C T intragenic_variant BRCA-EU 20 31544892 31544892 deletion of <=200bp T - intragenic_variant BRCA-EU 20 31544892 31544892 deletion of <=200bp T - upstream_gene_variant BRCA-EU 20 31545634 31545634 single base substitution G T intragenic_variant BRCA-EU 20 31545634 31545634 single base substitution G T upstream_gene_variant BRCA-EU 20 31547059 31547059 single base substitution A T intragenic_variant BRCA-EU 20 31547059 31547059 single base substitution A T upstream_gene_variant BRCA-EU 20 31547725 31547725 single base substitution C T synonymous_variant A25A 75C>T BRCA-EU 20 31549133 31549133 single base substitution C T downstream_gene_variant BRCA-EU 20 31549394 31549394 single base substitution G C downstream_gene_variant BRCA-EU 20 31549493 31549493 single base substitution C A downstream_gene_variant BRCA-EU 20 31551812 31551812 single base substitution C T downstream_gene_variant BRCA-EU 20 31553343 31553343 single base substitution G A downstream_gene_variant BRCA-FR 20 31446452 31446452 single base substitution G A upstream_gene_variant BRCA-FR 20 31448262 31448262 single base substitution G A intron_variant BRCA-FR 20 31451856 31451856 single base substitution C T intron_variant BRCA-FR 20 31458781 31458781 single base substitution C T intron_variant BRCA-FR 20 31469622 31469622 single base substitution C T intron_variant BRCA-FR 20 31490954 31490954 single base substitution C A intron_variant BRCA-FR 20 31500956 31500956 single base substitution C T intron_variant BRCA-FR 20 31500956 31500956 single base substitution C T upstream_gene_variant BRCA-FR 20 31521358 31521358 single base substitution C G downstream_gene_variant BRCA-FR 20 31521358 31521358 single base substitution C G intragenic_variant BRCA-FR 20 31523132 31523132 single base substitution G C downstream_gene_variant BRCA-FR 20 31523132 31523132 single base substitution G C intragenic_variant BRCA-FR 20 31532866 31532866 single base substitution G A intragenic_variant BRCA-FR 20 31541395 31541395 single base substitution C G intragenic_variant BRCA-FR 20 31553343 31553343 single base substitution G A downstream_gene_variant BRCA-KR 20 31466602 31466602 single base substitution G A synonymous_variant T140T 420G>A BRCA-UK 20 31472480 31472480 single base substitution C G intron_variant BRCA-UK 20 31472908 31472908 single base substitution C G intron_variant BRCA-UK 20 31473686 31473686 single base substitution C G intron_variant BRCA-UK 20 31473720 31473720 single base substitution C G intron_variant BRCA-UK 20 31473754 31473754 single base substitution C G intron_variant BRCA-UK 20 31474025 31474025 single base substitution C G intron_variant BRCA-UK 20 31474158 31474158 single base substitution C G intron_variant BRCA-UK 20 31474231 31474231 single base substitution C G intron_variant BRCA-UK 20 31474949 31474949 single base substitution C T intron_variant BRCA-UK 20 31475432 31475432 single base substitution C G intron_variant BRCA-UK 20 31475550 31475550 single base substitution C T intron_variant BRCA-UK 20 31475664 31475664 single base substitution G A intron_variant BRCA-UK 20 31475976 31475976 single base substitution C G intron_variant BRCA-UK 20 31476247 31476247 single base substitution C G intron_variant BRCA-UK 20 31476255 31476255 single base substitution C A intron_variant BRCA-UK 20 31476269 31476269 single base substitution C T intron_variant BRCA-UK 20 31476273 31476273 single base substitution C A intron_variant BRCA-UK 20 31476592 31476592 single base substitution C A intron_variant BRCA-UK 20 31476790 31476790 single base substitution C G intron_variant BRCA-UK 20 31477238 31477238 single base substitution C G intron_variant BRCA-UK 20 31477413 31477413 single base substitution C G intron_variant BRCA-UK 20 31477501 31477501 single base substitution C T intron_variant BRCA-UK 20 31481135 31481135 single base substitution G A intron_variant BRCA-UK 20 31485761 31485761 single base substitution G C intron_variant BRCA-UK 20 31485761 31485761 single base substitution G C upstream_gene_variant BRCA-UK 20 31487454 31487454 single base substitution C T intron_variant BRCA-UK 20 31501110 31501110 single base substitution C G intron_variant BRCA-UK 20 31501110 31501110 single base substitution C G upstream_gene_variant BRCA-UK 20 31545634 31545634 single base substitution G T intragenic_variant BRCA-UK 20 31545634 31545634 single base substitution G T upstream_gene_variant BRCA-UK 20 31549579 31549579 single base substitution C G downstream_gene_variant BRCA-US 20 31481037 31481037 single base substitution C T synonymous_variant V272V 816C>T BRCA-US 20 31486206 31486206 single base substitution A G exon_variant BRCA-US 20 31486206 31486206 single base substitution A G intron_variant BRCA-US 20 31500663 31500663 single base substitution C G missense_variant H40D 118C>G BRCA-US 20 31500663 31500663 single base substitution C G upstream_gene_variant BTCA-JP 20 31473308 31473308 single base substitution C A splice_region_variant BTCA-JP 20 31486206 31486206 single base substitution A G exon_variant BTCA-JP 20 31486206 31486206 single base substitution A G intron_variant BTCA-JP 20 31486345 31486345 single base substitution T G exon_variant BTCA-JP 20 31486345 31486345 single base substitution T G missense_variant M335R 1004T>G BTCA-JP 20 31494954 31494954 single base substitution C T downstream_gene_variant BTCA-JP 20 31494954 31494954 single base substitution C T intragenic_variant BTCA-JP 20 31494954 31494954 single base substitution C T upstream_gene_variant BTCA-JP 20 31496147 31496147 single base substitution C G downstream_gene_variant BTCA-JP 20 31496147 31496147 single base substitution C G intragenic_variant BTCA-JP 20 31496147 31496147 single base substitution C G upstream_gene_variant BTCA-JP 20 31497676 31497676 single base substitution G A downstream_gene_variant BTCA-JP 20 31497676 31497676 single base substitution G A intragenic_variant BTCA-JP 20 31497676 31497676 single base substitution G A upstream_gene_variant BTCA-JP 20 31505122 31505122 single base substitution G A exon_variant BTCA-JP 20 31505122 31505122 single base substitution G A synonymous_variant K47K 141G>A BTCA-JP 20 31505403 31505403 single base substitution A C intron_variant BTCA-JP 20 31506288 31506288 single base substitution G A exon_variant BTCA-JP 20 31506288 31506288 single base substitution G A missense_variant A151T 451G>A BTCA-JP 20 31549138 31549138 single base substitution C T downstream_gene_variant BTCA-JP 20 31549467 31549467 single base substitution G A downstream_gene_variant CLLE-ES 20 31457961 31457961 single base substitution C T intron_variant CLLE-ES 20 31459195 31459195 single base substitution T G intron_variant CLLE-ES 20 31487521 31487521 single base substitution C T intron_variant CLLE-ES 20 31492960 31492960 single base substitution T C downstream_gene_variant CLLE-ES 20 31492960 31492960 single base substitution T C intron_variant CLLE-ES 20 31543509 31543509 single base substitution A G intragenic_variant CLLE-ES 20 31543509 31543509 single base substitution A G upstream_gene_variant CLLE-ES 20 31550936 31550936 single base substitution G T downstream_gene_variant CMDI-UK 20 31477134 31477134 single base substitution C T stop_gained Q199* 595C>T COCA-CN 20 31451645 31451645 single base substitution G T splice_region_variant COCA-CN 20 31451705 31451705 single base substitution T G intron_variant COCA-CN 20 31466562 31466562 single base substitution G A missense_variant R127Q 380G>A COCA-CN 20 31466566 31466566 single base substitution G T missense_variant K128N 384G>T COCA-CN 20 31473483 31473483 single base substitution G C intron_variant COCA-CN 20 31477139 31477139 single base substitution G A synonymous_variant P200P 600G>A COCA-CN 20 31477240 31477240 single base substitution G T intron_variant COCA-CN 20 31480654 31480654 single base substitution C T intron_variant COCA-CN 20 31484471 31484471 single base substitution G A intron_variant COCA-CN 20 31484471 31484471 single base substitution G A upstream_gene_variant COCA-CN 20 31494382 31494382 single base substitution G A downstream_gene_variant COCA-CN 20 31494382 31494382 single base substitution G A missense_variant R368H 1103G>A COCA-CN 20 31497621 31497621 single base substitution C A downstream_gene_variant COCA-CN 20 31497621 31497621 single base substitution C A intragenic_variant COCA-CN 20 31497621 31497621 single base substitution C A upstream_gene_variant COCA-CN 20 31497656 31497656 single base substitution C A downstream_gene_variant COCA-CN 20 31497656 31497656 single base substitution C A intragenic_variant COCA-CN 20 31497656 31497656 single base substitution C A upstream_gene_variant COCA-CN 20 31497672 31497672 single base substitution G T downstream_gene_variant COCA-CN 20 31497672 31497672 single base substitution G T intragenic_variant COCA-CN 20 31497672 31497672 single base substitution G T upstream_gene_variant COCA-CN 20 31500655 31500655 single base substitution G T missense_variant R37I 110G>T COCA-CN 20 31500655 31500655 single base substitution G T upstream_gene_variant COCA-CN 20 31502082 31502082 single base substitution C T intron_variant COCA-CN 20 31502082 31502082 single base substitution C T upstream_gene_variant COCA-CN 20 31505012 31505012 single base substitution C T exon_variant COCA-CN 20 31505012 31505012 single base substitution C T intron_variant COCA-CN 20 31505274 31505274 single base substitution A C exon_variant COCA-CN 20 31505274 31505274 single base substitution A C missense_variant N98T 293A>C COCA-CN 20 31506116 31506116 single base substitution T G intron_variant COCA-CN 20 31506348 31506348 single base substitution G T exon_variant COCA-CN 20 31506348 31506348 single base substitution G T missense_variant D171Y 511G>T COCA-CN 20 31506388 31506388 single base substitution C T splice_region_variant COCA-CN 20 31518473 31518473 single base substitution C T intron_variant COCA-CN 20 31519008 31519008 single base substitution G A missense_variant A309T 925G>A COCA-CN 20 31527095 31527095 single base substitution G T intragenic_variant COCA-CN 20 31548781 31548781 single base substitution G A intron_variant EOPC-DE 20 31483102 31483102 single base substitution G T intron_variant EOPC-DE 20 31483102 31483102 single base substitution G T upstream_gene_variant EOPC-DE 20 31507407 31507407 single base substitution A T intron_variant EOPC-DE 20 31551789 31551789 single base substitution C T downstream_gene_variant ESAD-UK 20 31442671 31442671 deletion of <=200bp T - upstream_gene_variant ESAD-UK 20 31444689 31444689 single base substitution C T upstream_gene_variant ESAD-UK 20 31445881 31445881 single base substitution G A upstream_gene_variant ESAD-UK 20 31446025 31446025 single base substitution C A upstream_gene_variant ESAD-UK 20 31447174 31447174 single base substitution G A intron_variant ESAD-UK 20 31448784 31448784 single base substitution G T intron_variant ESAD-UK 20 31449125 31449125 single base substitution G A intron_variant ESAD-UK 20 31451036 31451036 single base substitution C T intron_variant ESAD-UK 20 31455706 31455706 single base substitution G A intron_variant ESAD-UK 20 31456908 31456908 single base substitution C T intron_variant ESAD-UK 20 31457026 31457026 single base substitution C A intron_variant ESAD-UK 20 31457833 31457839 deletion of <=200bp AAGGCAT - intron_variant ESAD-UK 20 31459692 31459692 single base substitution C T intron_variant ESAD-UK 20 31460798 31460798 single base substitution C T intron_variant ESAD-UK 20 31461529 31461529 single base substitution A C intron_variant ESAD-UK 20 31462072 31462072 single base substitution A G intron_variant ESAD-UK 20 31462675 31462675 single base substitution C T intron_variant ESAD-UK 20 31463374 31463374 single base substitution G A intron_variant ESAD-UK 20 31466590 31466590 single base substitution C T synonymous_variant Y136Y 408C>T ESAD-UK 20 31467293 31467293 single base substitution G A intron_variant ESAD-UK 20 31468705 31468705 insertion of <=200bp - AT intron_variant ESAD-UK 20 31468972 31468972 single base substitution C A intron_variant ESAD-UK 20 31469129 31469129 single base substitution A C intron_variant ESAD-UK 20 31469648 31469648 single base substitution C T intron_variant ESAD-UK 20 31469649 31469649 single base substitution G A intron_variant ESAD-UK 20 31469960 31469960 single base substitution C T intron_variant ESAD-UK 20 31470475 31470475 single base substitution C T intron_variant ESAD-UK 20 31473760 31473760 single base substitution G A intron_variant ESAD-UK 20 31474413 31474413 single base substitution C A intron_variant ESAD-UK 20 31474595 31474595 single base substitution C G intron_variant ESAD-UK 20 31476188 31476188 single base substitution C T intron_variant ESAD-UK 20 31476754 31476754 single base substitution T C intron_variant ESAD-UK 20 31477139 31477139 single base substitution G A synonymous_variant P200P 600G>A ESAD-UK 20 31477754 31477754 single base substitution C A intron_variant ESAD-UK 20 31478020 31478020 single base substitution T G intron_variant ESAD-UK 20 31480717 31480717 single base substitution G A intron_variant ESAD-UK 20 31480938 31480938 single base substitution C T intron_variant ESAD-UK 20 31481093 31481093 single base substitution C T missense_variant A291V 872C>T ESAD-UK 20 31483489 31483489 single base substitution C T intron_variant ESAD-UK 20 31483489 31483489 single base substitution C T upstream_gene_variant ESAD-UK 20 31483720 31483720 single base substitution T C intron_variant ESAD-UK 20 31483720 31483720 single base substitution T C upstream_gene_variant ESAD-UK 20 31486283 31486283 single base substitution G C exon_variant ESAD-UK 20 31486283 31486283 single base substitution G C intron_variant ESAD-UK 20 31486305 31486305 single base substitution C A exon_variant ESAD-UK 20 31486305 31486305 single base substitution C A missense_variant H322N 964C>A ESAD-UK 20 31487097 31487097 insertion of <=200bp - GCTACTCG intron_variant ESAD-UK 20 31487162 31487162 single base substitution G C intron_variant ESAD-UK 20 31487600 31487600 single base substitution G A intron_variant ESAD-UK 20 31489642 31489642 single base substitution C T intron_variant ESAD-UK 20 31490011 31490011 single base substitution C A intron_variant ESAD-UK 20 31490849 31490849 single base substitution C T intron_variant ESAD-UK 20 31491463 31491463 single base substitution A C exon_variant ESAD-UK 20 31491463 31491463 single base substitution A C intron_variant ESAD-UK 20 31491649 31491649 single base substitution C G downstream_gene_variant ESAD-UK 20 31491649 31491649 single base substitution C G intron_variant ESAD-UK 20 31493004 31493004 single base substitution G A downstream_gene_variant ESAD-UK 20 31493004 31493004 single base substitution G A intron_variant ESAD-UK 20 31494417 31494417 single base substitution C T downstream_gene_variant ESAD-UK 20 31494417 31494417 single base substitution C T missense_variant P380S 1138C>T ESAD-UK 20 31494812 31494812 single base substitution C T downstream_gene_variant ESAD-UK 20 31494812 31494812 single base substitution C T intragenic_variant ESAD-UK 20 31494812 31494812 single base substitution C T upstream_gene_variant ESAD-UK 20 31495150 31495150 single base substitution G T downstream_gene_variant ESAD-UK 20 31495150 31495150 single base substitution G T intragenic_variant ESAD-UK 20 31495150 31495150 single base substitution G T upstream_gene_variant ESAD-UK 20 31495151 31495151 single base substitution C T downstream_gene_variant ESAD-UK 20 31495151 31495151 single base substitution C T intragenic_variant ESAD-UK 20 31495151 31495151 single base substitution C T upstream_gene_variant ESAD-UK 20 31495212 31495212 single base substitution C T downstream_gene_variant ESAD-UK 20 31495212 31495212 single base substitution C T intragenic_variant ESAD-UK 20 31495212 31495212 single base substitution C T upstream_gene_variant ESAD-UK 20 31496763 31496763 single base substitution A T downstream_gene_variant ESAD-UK 20 31496763 31496763 single base substitution A T intragenic_variant ESAD-UK 20 31496763 31496763 single base substitution A T upstream_gene_variant ESAD-UK 20 31496773 31496773 single base substitution G T downstream_gene_variant ESAD-UK 20 31496773 31496773 single base substitution G T intragenic_variant ESAD-UK 20 31496773 31496773 single base substitution G T upstream_gene_variant ESAD-UK 20 31497630 31497630 single base substitution G A downstream_gene_variant ESAD-UK 20 31497630 31497630 single base substitution G A intragenic_variant ESAD-UK 20 31497630 31497630 single base substitution G A upstream_gene_variant ESAD-UK 20 31498390 31498390 single base substitution G C downstream_gene_variant ESAD-UK 20 31498390 31498390 single base substitution G C intragenic_variant ESAD-UK 20 31498390 31498390 single base substitution G C upstream_gene_variant ESAD-UK 20 31500465 31500465 single base substitution G A intron_variant ESAD-UK 20 31500465 31500465 single base substitution G A upstream_gene_variant ESAD-UK 20 31501463 31501463 single base substitution A G intron_variant ESAD-UK 20 31501463 31501463 single base substitution A G upstream_gene_variant ESAD-UK 20 31501711 31501711 single base substitution A G intron_variant ESAD-UK 20 31501711 31501711 single base substitution A G upstream_gene_variant ESAD-UK 20 31502783 31502783 single base substitution C A intron_variant ESAD-UK 20 31502783 31502783 single base substitution C A upstream_gene_variant ESAD-UK 20 31504313 31504313 single base substitution C T intron_variant ESAD-UK 20 31504313 31504313 single base substitution C T upstream_gene_variant ESAD-UK 20 31504819 31504819 single base substitution C T intron_variant ESAD-UK 20 31504819 31504819 single base substitution C T upstream_gene_variant ESAD-UK 20 31505888 31505888 single base substitution G T intron_variant ESAD-UK 20 31506461 31506461 single base substitution T G intron_variant ESAD-UK 20 31506484 31506484 single base substitution A C intron_variant ESAD-UK 20 31506898 31506898 single base substitution G A intron_variant ESAD-UK 20 31508168 31508168 single base substitution C T downstream_gene_variant ESAD-UK 20 31508168 31508168 single base substitution C T intron_variant ESAD-UK 20 31508213 31508213 single base substitution C T downstream_gene_variant ESAD-UK 20 31508213 31508213 single base substitution C T intron_variant ESAD-UK 20 31510236 31510236 single base substitution C T downstream_gene_variant ESAD-UK 20 31510236 31510236 single base substitution C T intron_variant ESAD-UK 20 31511373 31511373 single base substitution C T downstream_gene_variant ESAD-UK 20 31511373 31511373 single base substitution C T intron_variant ESAD-UK 20 31515232 31515232 single base substitution C G intron_variant ESAD-UK 20 31519983 31519983 single base substitution G C downstream_gene_variant ESAD-UK 20 31519983 31519983 single base substitution G C intragenic_variant ESAD-UK 20 31520527 31520527 single base substitution T C downstream_gene_variant ESAD-UK 20 31520527 31520527 single base substitution T C intragenic_variant ESAD-UK 20 31522429 31522429 single base substitution C T downstream_gene_variant ESAD-UK 20 31522429 31522429 single base substitution C T intragenic_variant ESAD-UK 20 31523050 31523050 single base substitution G A downstream_gene_variant ESAD-UK 20 31523050 31523050 single base substitution G A intragenic_variant ESAD-UK 20 31523862 31523862 single base substitution G A downstream_gene_variant ESAD-UK 20 31523862 31523862 single base substitution G A intragenic_variant ESAD-UK 20 31524473 31524473 single base substitution G A intragenic_variant ESAD-UK 20 31525285 31525285 single base substitution T G intragenic_variant ESAD-UK 20 31525931 31525931 single base substitution A C intragenic_variant ESAD-UK 20 31526863 31526863 single base substitution C A intragenic_variant ESAD-UK 20 31527185 31527185 single base substitution T A intragenic_variant ESAD-UK 20 31527215 31527215 single base substitution A C intragenic_variant ESAD-UK 20 31529071 31529071 single base substitution A G intragenic_variant ESAD-UK 20 31529482 31529482 single base substitution A C intragenic_variant ESAD-UK 20 31529888 31529888 deletion of <=200bp T - intragenic_variant ESAD-UK 20 31530547 31530547 single base substitution G T intragenic_variant ESAD-UK 20 31530619 31530619 single base substitution A C intragenic_variant ESAD-UK 20 31531844 31531844 single base substitution C A intragenic_variant ESAD-UK 20 31532277 31532277 single base substitution A T intragenic_variant ESAD-UK 20 31532517 31532517 deletion of <=200bp T - intragenic_variant ESAD-UK 20 31532856 31532856 single base substitution C A intragenic_variant ESAD-UK 20 31532928 31532928 single base substitution T C intragenic_variant ESAD-UK 20 31533063 31533063 single base substitution C T intragenic_variant ESAD-UK 20 31533225 31533225 single base substitution G T intragenic_variant ESAD-UK 20 31533524 31533524 single base substitution C A intragenic_variant ESAD-UK 20 31534214 31534214 deletion of <=200bp T - intragenic_variant ESAD-UK 20 31534604 31534604 single base substitution T C intragenic_variant ESAD-UK 20 31536216 31536216 single base substitution A G intragenic_variant ESAD-UK 20 31536806 31536806 single base substitution A G intragenic_variant ESAD-UK 20 31537369 31537369 single base substitution T C intragenic_variant ESAD-UK 20 31538103 31538103 single base substitution T G intragenic_variant ESAD-UK 20 31539057 31539057 single base substitution T G intragenic_variant ESAD-UK 20 31539530 31539530 single base substitution A C intragenic_variant ESAD-UK 20 31539834 31539834 single base substitution A C intragenic_variant ESAD-UK 20 31541415 31541415 single base substitution G A intragenic_variant ESAD-UK 20 31541853 31541853 single base substitution A G intragenic_variant ESAD-UK 20 31543128 31543128 single base substitution T C intragenic_variant ESAD-UK 20 31543128 31543128 single base substitution T C upstream_gene_variant ESAD-UK 20 31545065 31545065 single base substitution T G intragenic_variant ESAD-UK 20 31545065 31545065 single base substitution T G upstream_gene_variant ESAD-UK 20 31545136 31545136 single base substitution A C intragenic_variant ESAD-UK 20 31545136 31545136 single base substitution A C upstream_gene_variant ESAD-UK 20 31545193 31545193 single base substitution T G intragenic_variant ESAD-UK 20 31545193 31545193 single base substitution T G upstream_gene_variant ESAD-UK 20 31546208 31546208 single base substitution C A intragenic_variant ESAD-UK 20 31546208 31546208 single base substitution C A upstream_gene_variant ESAD-UK 20 31546579 31546579 single base substitution T G intragenic_variant ESAD-UK 20 31546579 31546579 single base substitution T G upstream_gene_variant ESAD-UK 20 31549265 31549265 single base substitution C T downstream_gene_variant ESAD-UK 20 31549315 31549315 single base substitution T G downstream_gene_variant ESAD-UK 20 31549777 31549777 single base substitution T G downstream_gene_variant ESAD-UK 20 31549964 31549964 single base substitution G A downstream_gene_variant KIRC-US 20 31497682 31497682 single base substitution G T downstream_gene_variant KIRC-US 20 31497682 31497682 single base substitution G T intragenic_variant KIRC-US 20 31497682 31497682 single base substitution G T upstream_gene_variant LAML-KR 20 31480961 31480961 single base substitution C T intron_variant LAML-KR 20 31527063 31527063 single base substitution A T intragenic_variant LICA-FR 20 31456783 31456783 single base substitution T C intron_variant LICA-FR 20 31512470 31512470 single base substitution C A downstream_gene_variant LICA-FR 20 31512470 31512470 single base substitution C A intron_variant LICA-FR 20 31539925 31539925 single base substitution G A intragenic_variant LICA-FR 20 31542636 31542636 single base substitution G A intragenic_variant LICA-FR 20 31549285 31549285 single base substitution C T downstream_gene_variant LINC-JP 20 31442468 31442468 single base substitution G T upstream_gene_variant LINC-JP 20 31446590 31446590 single base substitution A G upstream_gene_variant LINC-JP 20 31452042 31452042 single base substitution A G intron_variant LINC-JP 20 31454321 31454321 single base substitution G T intron_variant LINC-JP 20 31463815 31463815 single base substitution A T stop_gained K98* 292A>T LINC-JP 20 31477049 31477049 single base substitution A G intron_variant LINC-JP 20 31481017 31481017 single base substitution G A missense_variant A266T 796G>A LINC-JP 20 31483107 31483107 single base substitution A T intron_variant LINC-JP 20 31483107 31483107 single base substitution A T upstream_gene_variant LINC-JP 20 31485415 31485415 single base substitution A G intron_variant LINC-JP 20 31485415 31485415 single base substitution A G upstream_gene_variant LINC-JP 20 31495867 31495867 single base substitution C T downstream_gene_variant LINC-JP 20 31495867 31495867 single base substitution C T intragenic_variant LINC-JP 20 31495867 31495867 single base substitution C T upstream_gene_variant LINC-JP 20 31502106 31502106 single base substitution C T intron_variant LINC-JP 20 31502106 31502106 single base substitution C T upstream_gene_variant LINC-JP 20 31508009 31508009 single base substitution C T exon_variant LINC-JP 20 31508009 31508009 single base substitution C T synonymous_variant A223A 669C>T LINC-JP 20 31512088 31512088 single base substitution T G downstream_gene_variant LINC-JP 20 31512088 31512088 single base substitution T G intron_variant LINC-JP 20 31514239 31514239 deletion of <=200bp T - intron_variant LINC-JP 20 31518877 31518877 deletion of <=200bp C - intron_variant LINC-JP 20 31519028 31519028 single base substitution A T synonymous_variant P315P 945A>T LINC-JP 20 31524314 31524314 single base substitution T C intragenic_variant LINC-JP 20 31531374 31531374 single base substitution T A intragenic_variant LINC-JP 20 31544302 31544302 single base substitution A G intragenic_variant LINC-JP 20 31544302 31544302 single base substitution A G upstream_gene_variant LIRI-JP 20 31442823 31442823 single base substitution A G upstream_gene_variant LIRI-JP 20 31443557 31443557 single base substitution T G upstream_gene_variant LIRI-JP 20 31444635 31444635 single base substitution A T upstream_gene_variant LIRI-JP 20 31445764 31445764 single base substitution A G upstream_gene_variant LIRI-JP 20 31450700 31450700 single base substitution A C intron_variant LIRI-JP 20 31452126 31452126 single base substitution A G intron_variant LIRI-JP 20 31456832 31456832 single base substitution G A intron_variant LIRI-JP 20 31457856 31457856 single base substitution T C intron_variant LIRI-JP 20 31457987 31457987 single base substitution A G intron_variant LIRI-JP 20 31458337 31458337 single base substitution C T intron_variant LIRI-JP 20 31460078 31460078 single base substitution C T intron_variant LIRI-JP 20 31460571 31460571 single base substitution G A intron_variant LIRI-JP 20 31460613 31460613 single base substitution A G intron_variant LIRI-JP 20 31460851 31460851 single base substitution A T intron_variant LIRI-JP 20 31461079 31461080 deletion of <=200bp CT - intron_variant LIRI-JP 20 31462651 31462651 single base substitution C A intron_variant LIRI-JP 20 31462748 31462748 single base substitution T G intron_variant LIRI-JP 20 31465253 31465253 single base substitution A G intron_variant LIRI-JP 20 31465711 31465711 single base substitution G A intron_variant LIRI-JP 20 31466861 31466861 single base substitution C T intron_variant LIRI-JP 20 31467470 31467470 single base substitution G T intron_variant LIRI-JP 20 31467915 31467915 single base substitution A G intron_variant LIRI-JP 20 31472249 31472249 single base substitution T G intron_variant LIRI-JP 20 31472711 31472711 single base substitution G A intron_variant LIRI-JP 20 31474478 31474478 single base substitution G A intron_variant LIRI-JP 20 31474634 31474634 single base substitution G A intron_variant LIRI-JP 20 31474779 31474779 single base substitution A T intron_variant LIRI-JP 20 31475095 31475095 single base substitution T C intron_variant LIRI-JP 20 31475498 31475513 deletion of <=200bp ATTTCTGCTGACCTGG - intron_variant LIRI-JP 20 31476558 31476558 single base substitution C T intron_variant LIRI-JP 20 31478632 31478632 single base substitution C A intron_variant LIRI-JP 20 31483881 31483881 single base substitution T A intron_variant LIRI-JP 20 31483881 31483881 single base substitution T A upstream_gene_variant LIRI-JP 20 31489651 31489651 single base substitution G A intron_variant LIRI-JP 20 31492262 31492262 single base substitution G A downstream_gene_variant LIRI-JP 20 31492262 31492262 single base substitution G A intron_variant LIRI-JP 20 31498076 31498076 single base substitution G A downstream_gene_variant LIRI-JP 20 31498076 31498076 single base substitution G A intragenic_variant LIRI-JP 20 31498076 31498076 single base substitution G A upstream_gene_variant LIRI-JP 20 31499226 31499226 single base substitution C T downstream_gene_variant LIRI-JP 20 31499226 31499226 single base substitution C T intragenic_variant LIRI-JP 20 31499226 31499226 single base substitution C T upstream_gene_variant LIRI-JP 20 31499635 31499635 single base substitution G A downstream_gene_variant LIRI-JP 20 31499635 31499635 single base substitution G A intron_variant LIRI-JP 20 31499864 31499864 single base substitution A G intron_variant LIRI-JP 20 31500485 31500485 single base substitution A G intron_variant LIRI-JP 20 31500485 31500485 single base substitution A G upstream_gene_variant LIRI-JP 20 31504432 31504432 single base substitution C T intron_variant LIRI-JP 20 31504432 31504432 single base substitution C T upstream_gene_variant LIRI-JP 20 31505311 31505311 single base substitution G T missense_variant R110S 330G>T LIRI-JP 20 31505311 31505311 single base substitution G T splice_region_variant LIRI-JP 20 31506874 31506874 single base substitution G A intron_variant LIRI-JP 20 31511282 31511282 single base substitution A T downstream_gene_variant LIRI-JP 20 31511282 31511282 single base substitution A T intron_variant LIRI-JP 20 31511934 31511934 single base substitution A T downstream_gene_variant LIRI-JP 20 31511934 31511934 single base substitution A T intron_variant LIRI-JP 20 31515798 31515798 single base substitution C G intron_variant LIRI-JP 20 31519559 31519559 single base substitution G A downstream_gene_variant LIRI-JP 20 31519559 31519559 single base substitution G A intragenic_variant LIRI-JP 20 31520697 31520697 single base substitution T C downstream_gene_variant LIRI-JP 20 31520697 31520697 single base substitution T C intragenic_variant LIRI-JP 20 31522372 31522372 single base substitution G T downstream_gene_variant LIRI-JP 20 31522372 31522372 single base substitution G T intragenic_variant LIRI-JP 20 31523195 31523195 single base substitution G T downstream_gene_variant LIRI-JP 20 31523195 31523195 single base substitution G T intragenic_variant LIRI-JP 20 31523654 31523654 single base substitution T C downstream_gene_variant LIRI-JP 20 31523654 31523654 single base substitution T C intragenic_variant LIRI-JP 20 31523947 31523947 single base substitution T C downstream_gene_variant LIRI-JP 20 31523947 31523947 single base substitution T C intragenic_variant LIRI-JP 20 31524802 31524802 single base substitution G C intragenic_variant LIRI-JP 20 31526034 31526034 single base substitution A G intragenic_variant LIRI-JP 20 31529804 31529804 single base substitution A G intragenic_variant LIRI-JP 20 31530589 31530589 single base substitution T C intragenic_variant LIRI-JP 20 31530709 31530709 single base substitution T C intragenic_variant LIRI-JP 20 31530770 31530770 single base substitution T C intragenic_variant LIRI-JP 20 31531643 31531643 single base substitution T A intragenic_variant LIRI-JP 20 31532125 31532125 single base substitution G A intragenic_variant LIRI-JP 20 31533887 31533887 single base substitution T G intragenic_variant LIRI-JP 20 31533909 31533909 single base substitution C T intragenic_variant LIRI-JP 20 31534660 31534660 single base substitution C G intragenic_variant LIRI-JP 20 31535689 31535689 single base substitution T A intragenic_variant LIRI-JP 20 31539320 31539320 single base substitution T C intragenic_variant LIRI-JP 20 31539717 31539717 single base substitution A T intragenic_variant LIRI-JP 20 31540092 31540092 single base substitution G C intragenic_variant LIRI-JP 20 31540128 31540128 single base substitution T G intragenic_variant LIRI-JP 20 31541092 31541092 single base substitution G A intragenic_variant LIRI-JP 20 31541411 31541411 single base substitution T C intragenic_variant LIRI-JP 20 31541457 31541457 single base substitution G A intragenic_variant LIRI-JP 20 31541720 31541720 single base substitution G A intragenic_variant LIRI-JP 20 31541935 31541935 single base substitution A T intragenic_variant LIRI-JP 20 31544451 31544451 single base substitution A G intragenic_variant LIRI-JP 20 31544451 31544451 single base substitution A G upstream_gene_variant LIRI-JP 20 31545669 31545669 single base substitution T G intragenic_variant LIRI-JP 20 31545669 31545669 single base substitution T G upstream_gene_variant LIRI-JP 20 31546242 31546242 single base substitution G C intragenic_variant LIRI-JP 20 31546242 31546242 single base substitution G C upstream_gene_variant LIRI-JP 20 31546273 31546273 single base substitution T C intragenic_variant LIRI-JP 20 31546273 31546273 single base substitution T C upstream_gene_variant LIRI-JP 20 31551130 31551130 single base substitution T A downstream_gene_variant LIRI-JP 20 31553099 31553099 single base substitution A T downstream_gene_variant LIRI-JP 20 31553258 31553258 single base substitution G T downstream_gene_variant LUSC-KR 20 31443090 31443090 single base substitution G T upstream_gene_variant LUSC-KR 20 31443359 31443359 single base substitution G T upstream_gene_variant LUSC-KR 20 31445661 31445661 single base substitution A T upstream_gene_variant LUSC-KR 20 31446742 31446742 single base substitution G C 5_prime_UTR_variant LUSC-KR 20 31449955 31449955 single base substitution G T intron_variant LUSC-KR 20 31451585 31451585 single base substitution C A splice_region_variant LUSC-KR 20 31454423 31454423 single base substitution G A intron_variant LUSC-KR 20 31454501 31454501 single base substitution G C intron_variant LUSC-KR 20 31456032 31456032 single base substitution T G intron_variant LUSC-KR 20 31463982 31463982 single base substitution T A intron_variant LUSC-KR 20 31464026 31464026 single base substitution G T intron_variant LUSC-KR 20 31467611 31467611 single base substitution G T intron_variant LUSC-KR 20 31469862 31469862 single base substitution G T intron_variant LUSC-KR 20 31471011 31471011 single base substitution A G intron_variant LUSC-KR 20 31471147 31471147 single base substitution C T intron_variant LUSC-KR 20 31472908 31472908 single base substitution C A intron_variant LUSC-KR 20 31473227 31473227 single base substitution T C intron_variant LUSC-KR 20 31473483 31473483 single base substitution G C intron_variant LUSC-KR 20 31475933 31475933 single base substitution A G intron_variant LUSC-KR 20 31480952 31480952 single base substitution A T intron_variant LUSC-KR 20 31482417 31482417 single base substitution G A intron_variant LUSC-KR 20 31482417 31482417 single base substitution G A upstream_gene_variant LUSC-KR 20 31490176 31490176 single base substitution T C intron_variant LUSC-KR 20 31490323 31490323 single base substitution C T intron_variant LUSC-KR 20 31492050 31492050 single base substitution C G downstream_gene_variant LUSC-KR 20 31492050 31492050 single base substitution C G intron_variant LUSC-KR 20 31492051 31492051 single base substitution G T downstream_gene_variant LUSC-KR 20 31492051 31492051 single base substitution G T intron_variant LUSC-KR 20 31492278 31492278 single base substitution T A downstream_gene_variant LUSC-KR 20 31492278 31492278 single base substitution T A intron_variant LUSC-KR 20 31497833 31497833 single base substitution T A downstream_gene_variant LUSC-KR 20 31497833 31497833 single base substitution T A intragenic_variant LUSC-KR 20 31497833 31497833 single base substitution T A upstream_gene_variant LUSC-KR 20 31500080 31500080 single base substitution C A intron_variant LUSC-KR 20 31500080 31500080 single base substitution C A upstream_gene_variant LUSC-KR 20 31501546 31501546 single base substitution T G intron_variant LUSC-KR 20 31501546 31501546 single base substitution T G upstream_gene_variant LUSC-KR 20 31502857 31502857 single base substitution C T intron_variant LUSC-KR 20 31502857 31502857 single base substitution C T upstream_gene_variant LUSC-KR 20 31503365 31503365 single base substitution C T intron_variant LUSC-KR 20 31503365 31503365 single base substitution C T upstream_gene_variant LUSC-KR 20 31503470 31503470 single base substitution A G intron_variant LUSC-KR 20 31503470 31503470 single base substitution A G upstream_gene_variant LUSC-KR 20 31505104 31505104 single base substitution C A exon_variant LUSC-KR 20 31505104 31505104 single base substitution C A splice_region_variant LUSC-KR 20 31507294 31507294 single base substitution C G intron_variant LUSC-KR 20 31508089 31508089 single base substitution G T downstream_gene_variant LUSC-KR 20 31508089 31508089 single base substitution G T intron_variant LUSC-KR 20 31509865 31509865 single base substitution C T downstream_gene_variant LUSC-KR 20 31509865 31509865 single base substitution C T intron_variant LUSC-KR 20 31510874 31510874 single base substitution C T downstream_gene_variant LUSC-KR 20 31510874 31510874 single base substitution C T intron_variant LUSC-KR 20 31513847 31513847 single base substitution G C intron_variant LUSC-KR 20 31516754 31516754 single base substitution T C intron_variant LUSC-KR 20 31518813 31518813 single base substitution G C intron_variant LUSC-KR 20 31519621 31519621 single base substitution C A downstream_gene_variant LUSC-KR 20 31519621 31519621 single base substitution C A intragenic_variant LUSC-KR 20 31522703 31522703 single base substitution G T downstream_gene_variant LUSC-KR 20 31522703 31522703 single base substitution G T intragenic_variant LUSC-KR 20 31525395 31525395 single base substitution C T intragenic_variant LUSC-KR 20 31528162 31528162 single base substitution G T intragenic_variant LUSC-KR 20 31528491 31528491 single base substitution T G intragenic_variant LUSC-KR 20 31530190 31530190 single base substitution T G intragenic_variant LUSC-KR 20 31530367 31530367 single base substitution G C intragenic_variant LUSC-KR 20 31540800 31540800 single base substitution C A intragenic_variant LUSC-KR 20 31546222 31546222 single base substitution C A intragenic_variant LUSC-KR 20 31546222 31546222 single base substitution C A upstream_gene_variant LUSC-KR 20 31551927 31551927 single base substitution G T downstream_gene_variant LUSC-KR 20 31553066 31553066 single base substitution C A downstream_gene_variant MALY-DE 20 31453837 31453837 single base substitution G A intron_variant MALY-DE 20 31458142 31458142 single base substitution T C intron_variant MALY-DE 20 31459619 31459619 single base substitution C T intron_variant MALY-DE 20 31460831 31460831 single base substitution G A intron_variant MALY-DE 20 31463387 31463387 single base substitution T G intron_variant MALY-DE 20 31471171 31471171 single base substitution C T intron_variant MALY-DE 20 31473533 31473533 single base substitution C T intron_variant MALY-DE 20 31476220 31476220 single base substitution C T intron_variant MALY-DE 20 31482129 31482129 single base substitution G T intron_variant MALY-DE 20 31482129 31482129 single base substitution G T upstream_gene_variant MALY-DE 20 31485107 31485107 single base substitution C T intron_variant MALY-DE 20 31485107 31485107 single base substitution C T upstream_gene_variant MALY-DE 20 31487847 31487847 single base substitution G A intron_variant MALY-DE 20 31495464 31495464 single base substitution C T downstream_gene_variant MALY-DE 20 31495464 31495464 single base substitution C T intragenic_variant MALY-DE 20 31495464 31495464 single base substitution C T upstream_gene_variant MALY-DE 20 31497923 31497923 single base substitution G A downstream_gene_variant MALY-DE 20 31497923 31497923 single base substitution G A intragenic_variant MALY-DE 20 31497923 31497923 single base substitution G A upstream_gene_variant MALY-DE 20 31506146 31506146 single base substitution G A intron_variant MALY-DE 20 31514927 31514927 single base substitution T C intron_variant MALY-DE 20 31515337 31515337 single base substitution G A intron_variant MALY-DE 20 31516053 31516053 single base substitution T A intron_variant MALY-DE 20 31516945 31516945 deletion of <=200bp T - intron_variant MALY-DE 20 31517819 31517819 single base substitution A G intron_variant MALY-DE 20 31518899 31518899 single base substitution G T intron_variant MALY-DE 20 31521943 31521943 single base substitution C G downstream_gene_variant MALY-DE 20 31521943 31521943 single base substitution C G intragenic_variant MALY-DE 20 31523399 31523399 single base substitution G A downstream_gene_variant MALY-DE 20 31523399 31523399 single base substitution G A intragenic_variant MALY-DE 20 31525313 31525313 single base substitution T G intragenic_variant MALY-DE 20 31527636 31527636 single base substitution G A intragenic_variant MALY-DE 20 31532270 31532270 deletion of <=200bp A - intragenic_variant MALY-DE 20 31532548 31532548 insertion of <=200bp - T intragenic_variant MALY-DE 20 31538614 31538614 single base substitution C T intragenic_variant MALY-DE 20 31545692 31545692 deletion of <=200bp T - intragenic_variant MALY-DE 20 31545692 31545692 deletion of <=200bp T - upstream_gene_variant MALY-DE 20 31547971 31547971 single base substitution A C splice_region_variant MALY-DE 20 31549467 31549467 single base substitution G A downstream_gene_variant MALY-DE 20 31551007 31551007 single base substitution C A downstream_gene_variant MELA-AU 20 31441779 31441779 single base substitution C T upstream_gene_variant MELA-AU 20 31442046 31442046 single base substitution T A upstream_gene_variant MELA-AU 20 31442056 31442056 single base substitution T C upstream_gene_variant MELA-AU 20 31442141 31442141 single base substitution C T upstream_gene_variant MELA-AU 20 31443407 31443407 single base substitution T G upstream_gene_variant MELA-AU 20 31443972 31443972 single base substitution C T upstream_gene_variant MELA-AU 20 31444530 31444531 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 20 31444643 31444643 single base substitution C T upstream_gene_variant MELA-AU 20 31444977 31444977 single base substitution T A upstream_gene_variant MELA-AU 20 31445477 31445477 single base substitution C T upstream_gene_variant MELA-AU 20 31445659 31445659 single base substitution G A upstream_gene_variant MELA-AU 20 31446483 31446483 single base substitution C T upstream_gene_variant MELA-AU 20 31446844 31446844 single base substitution C T intron_variant MELA-AU 20 31447092 31447092 single base substitution G A intron_variant MELA-AU 20 31447195 31447195 single base substitution C T intron_variant MELA-AU 20 31447408 31447408 single base substitution T C intron_variant MELA-AU 20 31448054 31448054 single base substitution C T intron_variant MELA-AU 20 31448590 31448590 single base substitution C T intron_variant MELA-AU 20 31448744 31448744 single base substitution C T intron_variant MELA-AU 20 31449549 31449549 single base substitution C T intron_variant MELA-AU 20 31449653 31449653 single base substitution G A intron_variant MELA-AU 20 31449902 31449902 single base substitution C T intron_variant MELA-AU 20 31450447 31450447 single base substitution T A intron_variant MELA-AU 20 31450681 31450681 single base substitution C T intron_variant MELA-AU 20 31450698 31450698 single base substitution C T intron_variant MELA-AU 20 31450751 31450751 single base substitution C T intron_variant MELA-AU 20 31451019 31451019 single base substitution C T intron_variant MELA-AU 20 31451063 31451063 single base substitution T G intron_variant MELA-AU 20 31451163 31451163 single base substitution T A intron_variant MELA-AU 20 31451728 31451728 single base substitution T C intron_variant MELA-AU 20 31452299 31452299 single base substitution G C intron_variant MELA-AU 20 31452315 31452315 single base substitution G A intron_variant MELA-AU 20 31453449 31453449 single base substitution C T intron_variant MELA-AU 20 31454366 31454366 single base substitution G A intron_variant MELA-AU 20 31454520 31454520 single base substitution C T intron_variant MELA-AU 20 31454593 31454593 single base substitution C T intron_variant MELA-AU 20 31454691 31454691 single base substitution C T intron_variant MELA-AU 20 31455031 31455031 single base substitution G A intron_variant MELA-AU 20 31455048 31455048 single base substitution C T intron_variant MELA-AU 20 31455183 31455183 single base substitution C T intron_variant MELA-AU 20 31455431 31455431 single base substitution C T missense_variant S29F 86C>T MELA-AU 20 31455971 31455971 single base substitution C T intron_variant MELA-AU 20 31456197 31456197 single base substitution C T intron_variant MELA-AU 20 31456336 31456336 single base substitution C T intron_variant MELA-AU 20 31456526 31456526 single base substitution C T intron_variant MELA-AU 20 31456573 31456573 single base substitution T C intron_variant MELA-AU 20 31456609 31456609 single base substitution G A intron_variant MELA-AU 20 31456675 31456675 single base substitution C T intron_variant MELA-AU 20 31456742 31456743 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 31457067 31457067 single base substitution G A intron_variant MELA-AU 20 31457085 31457085 single base substitution C T intron_variant MELA-AU 20 31457240 31457240 single base substitution C T intron_variant MELA-AU 20 31457241 31457241 single base substitution C T intron_variant MELA-AU 20 31457270 31457270 single base substitution G A intron_variant MELA-AU 20 31457551 31457551 single base substitution C A intron_variant MELA-AU 20 31457853 31457853 single base substitution C T intron_variant MELA-AU 20 31458176 31458176 single base substitution T C intron_variant MELA-AU 20 31458260 31458261 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 31458296 31458296 single base substitution C T intron_variant MELA-AU 20 31458414 31458414 single base substitution C T intron_variant MELA-AU 20 31458797 31458797 single base substitution T G intron_variant MELA-AU 20 31458900 31458900 single base substitution C T intron_variant MELA-AU 20 31458916 31458916 single base substitution C T intron_variant MELA-AU 20 31458933 31458933 single base substitution C T intron_variant MELA-AU 20 31458954 31458954 single base substitution G A intron_variant MELA-AU 20 31459106 31459106 single base substitution G A intron_variant MELA-AU 20 31459703 31459703 single base substitution C T intron_variant MELA-AU 20 31460197 31460197 single base substitution G A intron_variant MELA-AU 20 31460296 31460296 single base substitution G A intron_variant MELA-AU 20 31460341 31460342 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 31460646 31460646 single base substitution C T intron_variant MELA-AU 20 31460677 31460677 single base substitution C T intron_variant MELA-AU 20 31460689 31460689 single base substitution G A intron_variant MELA-AU 20 31461031 31461031 single base substitution C T intron_variant MELA-AU 20 31461120 31461120 single base substitution C T intron_variant MELA-AU 20 31461315 31461315 single base substitution C T intron_variant MELA-AU 20 31461362 31461362 single base substitution A G intron_variant MELA-AU 20 31461641 31461641 single base substitution C T intron_variant MELA-AU 20 31461736 31461736 single base substitution T C intron_variant MELA-AU 20 31462123 31462123 single base substitution G A intron_variant MELA-AU 20 31462154 31462154 single base substitution G A intron_variant MELA-AU 20 31462471 31462471 single base substitution C T intron_variant MELA-AU 20 31462562 31462562 single base substitution C T intron_variant MELA-AU 20 31462567 31462567 single base substitution C T intron_variant MELA-AU 20 31462676 31462676 single base substitution C T intron_variant MELA-AU 20 31462895 31462895 single base substitution C T intron_variant MELA-AU 20 31462952 31462952 single base substitution C T intron_variant MELA-AU 20 31463374 31463374 single base substitution G A intron_variant MELA-AU 20 31463393 31463393 single base substitution C T intron_variant MELA-AU 20 31463584 31463584 single base substitution G A intron_variant MELA-AU 20 31463872 31463872 single base substitution C T intron_variant MELA-AU 20 31463962 31463962 single base substitution C T intron_variant MELA-AU 20 31463995 31463995 single base substitution C T intron_variant MELA-AU 20 31464009 31464009 single base substitution C T intron_variant MELA-AU 20 31464490 31464490 single base substitution C T intron_variant MELA-AU 20 31465139 31465139 single base substitution C G intron_variant MELA-AU 20 31465248 31465248 single base substitution C T intron_variant MELA-AU 20 31465874 31465874 single base substitution C T intron_variant MELA-AU 20 31466026 31466026 single base substitution C T intron_variant MELA-AU 20 31466030 31466030 single base substitution C T intron_variant MELA-AU 20 31466064 31466064 single base substitution C T intron_variant MELA-AU 20 31466263 31466263 single base substitution G A intron_variant MELA-AU 20 31467053 31467053 single base substitution G A intron_variant MELA-AU 20 31467111 31467111 single base substitution C T intron_variant MELA-AU 20 31467169 31467169 single base substitution C T intron_variant MELA-AU 20 31467389 31467389 single base substitution C T intron_variant MELA-AU 20 31467472 31467472 single base substitution G A intron_variant MELA-AU 20 31467997 31467997 single base substitution G A intron_variant MELA-AU 20 31468014 31468014 single base substitution C T intron_variant MELA-AU 20 31468124 31468124 single base substitution G A intron_variant MELA-AU 20 31468162 31468162 single base substitution C T intron_variant MELA-AU 20 31469326 31469327 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 31470264 31470264 single base substitution C T intron_variant MELA-AU 20 31470417 31470417 single base substitution C T intron_variant MELA-AU 20 31470492 31470492 single base substitution G A intron_variant MELA-AU 20 31471118 31471118 single base substitution C T intron_variant MELA-AU 20 31471126 31471126 single base substitution C T intron_variant MELA-AU 20 31471920 31471920 single base substitution C T intron_variant MELA-AU 20 31472189 31472189 single base substitution C T intron_variant MELA-AU 20 31472347 31472347 single base substitution C T intron_variant MELA-AU 20 31472704 31472704 single base substitution C T intron_variant MELA-AU 20 31472900 31472900 single base substitution C T intron_variant MELA-AU 20 31473039 31473039 single base substitution C T intron_variant MELA-AU 20 31473044 31473044 single base substitution G A intron_variant MELA-AU 20 31473081 31473081 single base substitution C T intron_variant MELA-AU 20 31473421 31473422 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant S181F 542CC>TT MELA-AU 20 31473687 31473687 single base substitution C T intron_variant MELA-AU 20 31473735 31473735 single base substitution C T intron_variant MELA-AU 20 31473777 31473777 single base substitution C T intron_variant MELA-AU 20 31473829 31473829 single base substitution C T intron_variant MELA-AU 20 31473983 31473983 single base substitution C T intron_variant MELA-AU 20 31474016 31474016 single base substitution C T intron_variant MELA-AU 20 31474094 31474094 single base substitution C T intron_variant MELA-AU 20 31474217 31474217 single base substitution G A intron_variant MELA-AU 20 31474585 31474585 single base substitution G A intron_variant MELA-AU 20 31474806 31474806 single base substitution T C intron_variant MELA-AU 20 31474947 31474947 single base substitution C T intron_variant MELA-AU 20 31474975 31474975 single base substitution G A intron_variant MELA-AU 20 31475187 31475187 single base substitution G A intron_variant MELA-AU 20 31475446 31475446 single base substitution C A intron_variant MELA-AU 20 31475763 31475763 single base substitution G A intron_variant MELA-AU 20 31475874 31475874 single base substitution T A intron_variant MELA-AU 20 31476358 31476358 single base substitution C T intron_variant MELA-AU 20 31476531 31476531 single base substitution C T intron_variant MELA-AU 20 31476630 31476630 single base substitution G A intron_variant MELA-AU 20 31476967 31476967 single base substitution C T intron_variant MELA-AU 20 31477386 31477386 single base substitution G A intron_variant MELA-AU 20 31477480 31477480 single base substitution A T intron_variant MELA-AU 20 31478040 31478040 single base substitution C T intron_variant MELA-AU 20 31478147 31478147 single base substitution C T intron_variant MELA-AU 20 31478201 31478201 single base substitution C T intron_variant MELA-AU 20 31478231 31478232 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 31478359 31478359 single base substitution G A intron_variant MELA-AU 20 31479121 31479121 single base substitution C T intron_variant MELA-AU 20 31479127 31479127 single base substitution G A intron_variant MELA-AU 20 31479144 31479144 single base substitution T C intron_variant MELA-AU 20 31479439 31479439 single base substitution G A intron_variant MELA-AU 20 31479773 31479773 single base substitution C T intron_variant MELA-AU 20 31479825 31479825 single base substitution G T intron_variant MELA-AU 20 31479827 31479827 single base substitution A G intron_variant MELA-AU 20 31479903 31479903 single base substitution G A intron_variant MELA-AU 20 31479930 31479930 single base substitution C T intron_variant MELA-AU 20 31480328 31480328 single base substitution C T intron_variant MELA-AU 20 31480581 31480581 single base substitution C T intron_variant MELA-AU 20 31481047 31481047 single base substitution G A missense_variant E276K 826G>A MELA-AU 20 31481112 31481112 single base substitution A G splice_region_variant MELA-AU 20 31481318 31481319 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 31481318 31481319 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 20 31481463 31481463 single base substitution T C intron_variant MELA-AU 20 31481463 31481463 single base substitution T C upstream_gene_variant MELA-AU 20 31481514 31481514 single base substitution C T intron_variant MELA-AU 20 31481514 31481514 single base substitution C T upstream_gene_variant MELA-AU 20 31481612 31481612 single base substitution C T intron_variant MELA-AU 20 31481612 31481612 single base substitution C T upstream_gene_variant MELA-AU 20 31482329 31482329 single base substitution C T intron_variant MELA-AU 20 31482329 31482329 single base substitution C T upstream_gene_variant MELA-AU 20 31482498 31482498 single base substitution C T intron_variant MELA-AU 20 31482498 31482498 single base substitution C T upstream_gene_variant MELA-AU 20 31482499 31482500 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 31482499 31482500 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 20 31482513 31482513 single base substitution G A intron_variant MELA-AU 20 31482513 31482513 single base substitution G A upstream_gene_variant MELA-AU 20 31482520 31482521 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 31482520 31482521 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 20 31482742 31482742 single base substitution C A intron_variant MELA-AU 20 31482742 31482742 single base substitution C A upstream_gene_variant MELA-AU 20 31482855 31482855 single base substitution C T intron_variant MELA-AU 20 31482855 31482855 single base substitution C T upstream_gene_variant MELA-AU 20 31483816 31483816 single base substitution G A intron_variant MELA-AU 20 31483816 31483816 single base substitution G A upstream_gene_variant MELA-AU 20 31484657 31484657 single base substitution G A intron_variant MELA-AU 20 31484657 31484657 single base substitution G A upstream_gene_variant MELA-AU 20 31484939 31484939 single base substitution C T intron_variant MELA-AU 20 31484939 31484939 single base substitution C T upstream_gene_variant MELA-AU 20 31485087 31485087 single base substitution C T intron_variant MELA-AU 20 31485087 31485087 single base substitution C T upstream_gene_variant MELA-AU 20 31485109 31485109 single base substitution G A intron_variant MELA-AU 20 31485109 31485109 single base substitution G A upstream_gene_variant MELA-AU 20 31485113 31485113 single base substitution C T intron_variant MELA-AU 20 31485113 31485113 single base substitution C T upstream_gene_variant MELA-AU 20 31485121 31485121 single base substitution C T intron_variant MELA-AU 20 31485121 31485121 single base substitution C T upstream_gene_variant MELA-AU 20 31485227 31485227 single base substitution C T intron_variant MELA-AU 20 31485227 31485227 single base substitution C T upstream_gene_variant MELA-AU 20 31485331 31485331 single base substitution C T intron_variant MELA-AU 20 31485331 31485331 single base substitution C T upstream_gene_variant MELA-AU 20 31485362 31485362 single base substitution C T intron_variant MELA-AU 20 31485362 31485362 single base substitution C T upstream_gene_variant MELA-AU 20 31485397 31485397 single base substitution A T intron_variant MELA-AU 20 31485397 31485397 single base substitution A T upstream_gene_variant MELA-AU 20 31485419 31485419 single base substitution C T intron_variant MELA-AU 20 31485419 31485419 single base substitution C T upstream_gene_variant MELA-AU 20 31485476 31485476 single base substitution C T intron_variant MELA-AU 20 31485476 31485476 single base substitution C T upstream_gene_variant MELA-AU 20 31485637 31485637 single base substitution G A intron_variant MELA-AU 20 31485637 31485637 single base substitution G A upstream_gene_variant MELA-AU 20 31485695 31485695 single base substitution A G intron_variant MELA-AU 20 31485695 31485695 single base substitution A G upstream_gene_variant MELA-AU 20 31485832 31485832 single base substitution C T intron_variant MELA-AU 20 31485832 31485832 single base substitution C T upstream_gene_variant MELA-AU 20 31485956 31485956 single base substitution G A intron_variant MELA-AU 20 31485956 31485956 single base substitution G A upstream_gene_variant MELA-AU 20 31486353 31486353 single base substitution G A exon_variant MELA-AU 20 31486353 31486353 single base substitution G A missense_variant V338I 1012G>A MELA-AU 20 31486434 31486434 single base substitution G A intron_variant MELA-AU 20 31486434 31486434 single base substitution G A splice_region_variant MELA-AU 20 31486712 31486712 single base substitution C T intron_variant MELA-AU 20 31486752 31486752 single base substitution C T intron_variant MELA-AU 20 31486860 31486860 single base substitution C T intron_variant MELA-AU 20 31487301 31487301 single base substitution G A intron_variant MELA-AU 20 31487355 31487355 single base substitution A G intron_variant MELA-AU 20 31487472 31487472 single base substitution C T intron_variant MELA-AU 20 31487626 31487626 single base substitution C T intron_variant MELA-AU 20 31488046 31488046 single base substitution C T intron_variant MELA-AU 20 31488192 31488192 single base substitution G A intron_variant MELA-AU 20 31488353 31488353 single base substitution C T intron_variant MELA-AU 20 31488369 31488369 single base substitution T A intron_variant MELA-AU 20 31488533 31488533 single base substitution C T intron_variant MELA-AU 20 31489471 31489471 single base substitution T G intron_variant MELA-AU 20 31489891 31489891 single base substitution C T intron_variant MELA-AU 20 31490475 31490475 single base substitution C A intron_variant MELA-AU 20 31491116 31491116 single base substitution C T intron_variant MELA-AU 20 31491286 31491286 single base substitution C T exon_variant MELA-AU 20 31491286 31491286 single base substitution C T intron_variant MELA-AU 20 31491447 31491447 single base substitution G A exon_variant MELA-AU 20 31491447 31491447 single base substitution G A intron_variant MELA-AU 20 31491785 31491785 single base substitution C T downstream_gene_variant MELA-AU 20 31491785 31491785 single base substitution C T intron_variant MELA-AU 20 31492124 31492124 single base substitution G A downstream_gene_variant MELA-AU 20 31492124 31492124 single base substitution G A intron_variant MELA-AU 20 31492360 31492360 single base substitution C T downstream_gene_variant MELA-AU 20 31492360 31492360 single base substitution C T intron_variant MELA-AU 20 31492638 31492639 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 20 31492638 31492639 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 31493032 31493032 single base substitution G C downstream_gene_variant MELA-AU 20 31493032 31493032 single base substitution G C intron_variant MELA-AU 20 31493177 31493177 single base substitution G A downstream_gene_variant MELA-AU 20 31493177 31493177 single base substitution G A intron_variant MELA-AU 20 31493205 31493205 single base substitution G A downstream_gene_variant MELA-AU 20 31493205 31493205 single base substitution G A intron_variant MELA-AU 20 31493279 31493279 single base substitution G A downstream_gene_variant MELA-AU 20 31493279 31493279 single base substitution G A intron_variant MELA-AU 20 31493448 31493448 single base substitution C T downstream_gene_variant MELA-AU 20 31493448 31493448 single base substitution C T intron_variant MELA-AU 20 31493593 31493594 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 20 31493593 31493594 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 31493793 31493793 single base substitution C T downstream_gene_variant MELA-AU 20 31493793 31493793 single base substitution C T intron_variant MELA-AU 20 31493794 31493794 single base substitution C T downstream_gene_variant MELA-AU 20 31493794 31493794 single base substitution C T intron_variant MELA-AU 20 31494237 31494237 single base substitution G A downstream_gene_variant MELA-AU 20 31494237 31494237 single base substitution G A intron_variant MELA-AU 20 31494546 31494546 single base substitution C T downstream_gene_variant MELA-AU 20 31494546 31494546 single base substitution C T intron_variant MELA-AU 20 31494546 31494546 single base substitution C T upstream_gene_variant MELA-AU 20 31494558 31494558 single base substitution C T downstream_gene_variant MELA-AU 20 31494558 31494558 single base substitution C T intron_variant MELA-AU 20 31494558 31494558 single base substitution C T upstream_gene_variant MELA-AU 20 31494674 31494674 single base substitution C T downstream_gene_variant MELA-AU 20 31494674 31494674 single base substitution C T synonymous_variant I394I 1182C>T MELA-AU 20 31494674 31494674 single base substitution C T upstream_gene_variant MELA-AU 20 31494723 31494723 single base substitution G A downstream_gene_variant MELA-AU 20 31494723 31494723 single base substitution G A intragenic_variant MELA-AU 20 31494723 31494723 single base substitution G A upstream_gene_variant MELA-AU 20 31494749 31494749 single base substitution C T downstream_gene_variant MELA-AU 20 31494749 31494749 single base substitution C T intragenic_variant MELA-AU 20 31494749 31494749 single base substitution C T upstream_gene_variant MELA-AU 20 31495073 31495073 single base substitution G A downstream_gene_variant MELA-AU 20 31495073 31495073 single base substitution G A intragenic_variant MELA-AU 20 31495073 31495073 single base substitution G A upstream_gene_variant MELA-AU 20 31495327 31495327 single base substitution C T downstream_gene_variant MELA-AU 20 31495327 31495327 single base substitution C T intragenic_variant MELA-AU 20 31495327 31495327 single base substitution C T upstream_gene_variant MELA-AU 20 31495362 31495362 single base substitution C T downstream_gene_variant MELA-AU 20 31495362 31495362 single base substitution C T intragenic_variant MELA-AU 20 31495362 31495362 single base substitution C T upstream_gene_variant MELA-AU 20 31495621 31495621 single base substitution C T downstream_gene_variant MELA-AU 20 31495621 31495621 single base substitution C T intragenic_variant MELA-AU 20 31495621 31495621 single base substitution C T upstream_gene_variant MELA-AU 20 31495638 31495638 single base substitution G A downstream_gene_variant MELA-AU 20 31495638 31495638 single base substitution G A intragenic_variant MELA-AU 20 31495638 31495638 single base substitution G A upstream_gene_variant MELA-AU 20 31495646 31495646 single base substitution C T downstream_gene_variant MELA-AU 20 31495646 31495646 single base substitution C T intragenic_variant MELA-AU 20 31495646 31495646 single base substitution C T upstream_gene_variant MELA-AU 20 31495997 31495997 single base substitution C T downstream_gene_variant MELA-AU 20 31495997 31495997 single base substitution C T intragenic_variant MELA-AU 20 31495997 31495997 single base substitution C T upstream_gene_variant MELA-AU 20 31496038 31496038 single base substitution C T downstream_gene_variant MELA-AU 20 31496038 31496038 single base substitution C T intragenic_variant MELA-AU 20 31496038 31496038 single base substitution C T upstream_gene_variant MELA-AU 20 31496087 31496087 single base substitution C T downstream_gene_variant MELA-AU 20 31496087 31496087 single base substitution C T intragenic_variant MELA-AU 20 31496087 31496087 single base substitution C T upstream_gene_variant MELA-AU 20 31496134 31496134 single base substitution G A downstream_gene_variant MELA-AU 20 31496134 31496134 single base substitution G A intragenic_variant MELA-AU 20 31496134 31496134 single base substitution G A upstream_gene_variant MELA-AU 20 31496200 31496200 single base substitution C T downstream_gene_variant MELA-AU 20 31496200 31496200 single base substitution C T intragenic_variant MELA-AU 20 31496200 31496200 single base substitution C T upstream_gene_variant MELA-AU 20 31496231 31496231 single base substitution C T downstream_gene_variant MELA-AU 20 31496231 31496231 single base substitution C T intragenic_variant MELA-AU 20 31496231 31496231 single base substitution C T upstream_gene_variant MELA-AU 20 31496314 31496314 single base substitution C T downstream_gene_variant MELA-AU 20 31496314 31496314 single base substitution C T intragenic_variant MELA-AU 20 31496314 31496314 single base substitution C T upstream_gene_variant MELA-AU 20 31496453 31496453 single base substitution C T downstream_gene_variant MELA-AU 20 31496453 31496453 single base substitution C T intragenic_variant MELA-AU 20 31496453 31496453 single base substitution C T upstream_gene_variant MELA-AU 20 31496476 31496476 single base substitution C T downstream_gene_variant MELA-AU 20 31496476 31496476 single base substitution C T intragenic_variant MELA-AU 20 31496476 31496476 single base substitution C T upstream_gene_variant MELA-AU 20 31496510 31496510 single base substitution G A downstream_gene_variant MELA-AU 20 31496510 31496510 single base substitution G A intragenic_variant MELA-AU 20 31496510 31496510 single base substitution G A upstream_gene_variant MELA-AU 20 31496543 31496543 single base substitution C T downstream_gene_variant MELA-AU 20 31496543 31496543 single base substitution C T intragenic_variant MELA-AU 20 31496543 31496543 single base substitution C T upstream_gene_variant MELA-AU 20 31496767 31496767 single base substitution G A downstream_gene_variant MELA-AU 20 31496767 31496767 single base substitution G A intragenic_variant MELA-AU 20 31496767 31496767 single base substitution G A upstream_gene_variant MELA-AU 20 31497284 31497284 single base substitution C T downstream_gene_variant MELA-AU 20 31497284 31497284 single base substitution C T intragenic_variant MELA-AU 20 31497284 31497284 single base substitution C T upstream_gene_variant MELA-AU 20 31497322 31497322 single base substitution G A downstream_gene_variant MELA-AU 20 31497322 31497322 single base substitution G A intragenic_variant MELA-AU 20 31497322 31497322 single base substitution G A upstream_gene_variant MELA-AU 20 31497365 31497365 single base substitution G A downstream_gene_variant MELA-AU 20 31497365 31497365 single base substitution G A intragenic_variant MELA-AU 20 31497365 31497365 single base substitution G A upstream_gene_variant MELA-AU 20 31497373 31497373 single base substitution G A downstream_gene_variant MELA-AU 20 31497373 31497373 single base substitution G A intragenic_variant MELA-AU 20 31497373 31497373 single base substitution G A upstream_gene_variant MELA-AU 20 31497557 31497557 single base substitution C T downstream_gene_variant MELA-AU 20 31497557 31497557 single base substitution C T intragenic_variant MELA-AU 20 31497557 31497557 single base substitution C T upstream_gene_variant MELA-AU 20 31497585 31497585 single base substitution C T downstream_gene_variant MELA-AU 20 31497585 31497585 single base substitution C T intragenic_variant MELA-AU 20 31497585 31497585 single base substitution C T upstream_gene_variant MELA-AU 20 31497630 31497631 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 20 31497630 31497631 multiple base substitution (>=2bp and <=200bp) GG AA intragenic_variant MELA-AU 20 31497630 31497631 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 20 31497643 31497643 single base substitution G A downstream_gene_variant MELA-AU 20 31497643 31497643 single base substitution G A intragenic_variant MELA-AU 20 31497643 31497643 single base substitution G A upstream_gene_variant MELA-AU 20 31497680 31497680 single base substitution G A downstream_gene_variant MELA-AU 20 31497680 31497680 single base substitution G A intragenic_variant MELA-AU 20 31497680 31497680 single base substitution G A upstream_gene_variant MELA-AU 20 31498079 31498079 single base substitution C T downstream_gene_variant MELA-AU 20 31498079 31498079 single base substitution C T intragenic_variant MELA-AU 20 31498079 31498079 single base substitution C T upstream_gene_variant MELA-AU 20 31498151 31498151 single base substitution G A downstream_gene_variant MELA-AU 20 31498151 31498151 single base substitution G A intragenic_variant MELA-AU 20 31498151 31498151 single base substitution G A upstream_gene_variant MELA-AU 20 31498199 31498199 single base substitution C T downstream_gene_variant MELA-AU 20 31498199 31498199 single base substitution C T intragenic_variant MELA-AU 20 31498199 31498199 single base substitution C T upstream_gene_variant MELA-AU 20 31498581 31498581 single base substitution C T downstream_gene_variant MELA-AU 20 31498581 31498581 single base substitution C T intragenic_variant MELA-AU 20 31498581 31498581 single base substitution C T upstream_gene_variant MELA-AU 20 31498736 31498736 single base substitution G A downstream_gene_variant MELA-AU 20 31498736 31498736 single base substitution G A intragenic_variant MELA-AU 20 31498736 31498736 single base substitution G A upstream_gene_variant MELA-AU 20 31499011 31499011 single base substitution C T downstream_gene_variant MELA-AU 20 31499011 31499011 single base substitution C T intragenic_variant MELA-AU 20 31499011 31499011 single base substitution C T upstream_gene_variant MELA-AU 20 31499055 31499055 single base substitution T G downstream_gene_variant MELA-AU 20 31499055 31499055 single base substitution T G intragenic_variant MELA-AU 20 31499055 31499055 single base substitution T G upstream_gene_variant MELA-AU 20 31499220 31499220 single base substitution G T downstream_gene_variant MELA-AU 20 31499220 31499220 single base substitution G T intragenic_variant MELA-AU 20 31499220 31499220 single base substitution G T upstream_gene_variant MELA-AU 20 31499228 31499228 single base substitution C T downstream_gene_variant MELA-AU 20 31499228 31499228 single base substitution C T intragenic_variant MELA-AU 20 31499228 31499228 single base substitution C T upstream_gene_variant MELA-AU 20 31499251 31499251 single base substitution C T downstream_gene_variant MELA-AU 20 31499251 31499251 single base substitution C T intragenic_variant MELA-AU 20 31499251 31499251 single base substitution C T upstream_gene_variant MELA-AU 20 31499356 31499356 single base substitution T A downstream_gene_variant MELA-AU 20 31499356 31499356 single base substitution T A intragenic_variant MELA-AU 20 31499356 31499356 single base substitution T A upstream_gene_variant MELA-AU 20 31499437 31499437 single base substitution G A downstream_gene_variant MELA-AU 20 31499437 31499437 single base substitution G A intragenic_variant MELA-AU 20 31499437 31499437 single base substitution G A upstream_gene_variant MELA-AU 20 31499585 31499585 single base substitution G A downstream_gene_variant MELA-AU 20 31499585 31499585 single base substitution G A intron_variant MELA-AU 20 31500069 31500069 single base substitution T A intron_variant MELA-AU 20 31500069 31500069 single base substitution T A upstream_gene_variant MELA-AU 20 31500140 31500140 single base substitution G A intron_variant MELA-AU 20 31500140 31500140 single base substitution G A upstream_gene_variant MELA-AU 20 31500317 31500317 single base substitution C T intron_variant MELA-AU 20 31500317 31500317 single base substitution C T upstream_gene_variant MELA-AU 20 31500355 31500355 single base substitution C T intron_variant MELA-AU 20 31500355 31500355 single base substitution C T upstream_gene_variant MELA-AU 20 31500490 31500490 single base substitution C T intron_variant MELA-AU 20 31500490 31500490 single base substitution C T upstream_gene_variant MELA-AU 20 31500551 31500551 single base substitution C T intron_variant MELA-AU 20 31500551 31500551 single base substitution C T upstream_gene_variant MELA-AU 20 31500584 31500584 single base substitution C T intron_variant MELA-AU 20 31500584 31500584 single base substitution C T upstream_gene_variant MELA-AU 20 31500702 31500702 single base substitution C T intron_variant MELA-AU 20 31500702 31500702 single base substitution C T upstream_gene_variant MELA-AU 20 31500894 31500894 single base substitution G A intron_variant MELA-AU 20 31500894 31500894 single base substitution G A upstream_gene_variant MELA-AU 20 31501027 31501027 single base substitution G A intron_variant MELA-AU 20 31501027 31501027 single base substitution G A upstream_gene_variant MELA-AU 20 31501137 31501137 single base substitution G A intron_variant MELA-AU 20 31501137 31501137 single base substitution G A upstream_gene_variant MELA-AU 20 31501147 31501147 single base substitution C T intron_variant MELA-AU 20 31501147 31501147 single base substitution C T upstream_gene_variant MELA-AU 20 31501280 31501280 single base substitution G A intron_variant MELA-AU 20 31501280 31501280 single base substitution G A upstream_gene_variant MELA-AU 20 31501317 31501317 single base substitution C T intron_variant MELA-AU 20 31501317 31501317 single base substitution C T upstream_gene_variant MELA-AU 20 31501379 31501379 single base substitution C T intron_variant MELA-AU 20 31501379 31501379 single base substitution C T upstream_gene_variant MELA-AU 20 31501623 31501623 single base substitution C T intron_variant MELA-AU 20 31501623 31501623 single base substitution C T upstream_gene_variant MELA-AU 20 31501787 31501787 single base substitution G A intron_variant MELA-AU 20 31501787 31501787 single base substitution G A upstream_gene_variant MELA-AU 20 31501797 31501797 single base substitution C T intron_variant MELA-AU 20 31501797 31501797 single base substitution C T upstream_gene_variant MELA-AU 20 31501798 31501798 single base substitution C T intron_variant MELA-AU 20 31501798 31501798 single base substitution C T upstream_gene_variant MELA-AU 20 31501828 31501828 single base substitution C T intron_variant MELA-AU 20 31501828 31501828 single base substitution C T upstream_gene_variant MELA-AU 20 31501913 31501913 single base substitution G A intron_variant MELA-AU 20 31501913 31501913 single base substitution G A upstream_gene_variant MELA-AU 20 31502029 31502029 single base substitution C T intron_variant MELA-AU 20 31502029 31502029 single base substitution C T upstream_gene_variant MELA-AU 20 31502101 31502101 single base substitution C T intron_variant MELA-AU 20 31502101 31502101 single base substitution C T upstream_gene_variant MELA-AU 20 31502123 31502123 single base substitution C T intron_variant MELA-AU 20 31502123 31502123 single base substitution C T upstream_gene_variant MELA-AU 20 31502214 31502214 single base substitution G A intron_variant MELA-AU 20 31502214 31502214 single base substitution G A upstream_gene_variant MELA-AU 20 31502558 31502558 single base substitution C T intron_variant MELA-AU 20 31502558 31502558 single base substitution C T upstream_gene_variant MELA-AU 20 31502730 31502730 single base substitution G A intron_variant MELA-AU 20 31502730 31502730 single base substitution G A upstream_gene_variant MELA-AU 20 31502882 31502882 single base substitution A T intron_variant MELA-AU 20 31502882 31502882 single base substitution A T upstream_gene_variant MELA-AU 20 31503098 31503098 single base substitution C T intron_variant MELA-AU 20 31503098 31503098 single base substitution C T upstream_gene_variant MELA-AU 20 31503371 31503371 single base substitution C T intron_variant MELA-AU 20 31503371 31503371 single base substitution C T upstream_gene_variant MELA-AU 20 31503569 31503569 single base substitution C T intron_variant MELA-AU 20 31503569 31503569 single base substitution C T upstream_gene_variant MELA-AU 20 31503600 31503600 single base substitution C T intron_variant MELA-AU 20 31503600 31503600 single base substitution C T upstream_gene_variant MELA-AU 20 31504088 31504088 single base substitution G A intron_variant MELA-AU 20 31504088 31504088 single base substitution G A upstream_gene_variant MELA-AU 20 31504394 31504394 single base substitution C T intron_variant MELA-AU 20 31504394 31504394 single base substitution C T upstream_gene_variant MELA-AU 20 31504623 31504623 single base substitution G A intron_variant MELA-AU 20 31504623 31504623 single base substitution G A upstream_gene_variant MELA-AU 20 31504693 31504693 single base substitution C T intron_variant MELA-AU 20 31504693 31504693 single base substitution C T upstream_gene_variant MELA-AU 20 31504813 31504813 single base substitution C T intron_variant MELA-AU 20 31504813 31504813 single base substitution C T upstream_gene_variant MELA-AU 20 31504904 31504904 single base substitution C T exon_variant MELA-AU 20 31504904 31504904 single base substitution C T intron_variant MELA-AU 20 31505046 31505046 single base substitution C T exon_variant MELA-AU 20 31505046 31505046 single base substitution C T intron_variant MELA-AU 20 31505368 31505368 single base substitution C T intron_variant MELA-AU 20 31505415 31505415 single base substitution G A intron_variant MELA-AU 20 31505606 31505606 single base substitution C T intron_variant MELA-AU 20 31505675 31505675 single base substitution G A intron_variant MELA-AU 20 31505828 31505828 single base substitution C T intron_variant MELA-AU 20 31506067 31506067 single base substitution G A intron_variant MELA-AU 20 31506118 31506118 single base substitution T A intron_variant MELA-AU 20 31506375 31506375 single base substitution C T exon_variant MELA-AU 20 31506375 31506375 single base substitution C T stop_gained Q180* 538C>T MELA-AU 20 31506418 31506418 single base substitution C T intron_variant MELA-AU 20 31506442 31506442 single base substitution C T intron_variant MELA-AU 20 31506566 31506566 single base substitution C G intron_variant MELA-AU 20 31506579 31506579 single base substitution G A intron_variant MELA-AU 20 31506589 31506589 single base substitution C T intron_variant MELA-AU 20 31506618 31506618 single base substitution C T intron_variant MELA-AU 20 31506713 31506713 single base substitution C T intron_variant MELA-AU 20 31506751 31506751 single base substitution G A intron_variant MELA-AU 20 31506922 31506922 single base substitution T C intron_variant MELA-AU 20 31507306 31507306 single base substitution T C intron_variant MELA-AU 20 31507425 31507425 single base substitution C T intron_variant MELA-AU 20 31507436 31507436 single base substitution G A intron_variant MELA-AU 20 31507543 31507543 single base substitution T A intron_variant MELA-AU 20 31507587 31507587 single base substitution G A intron_variant MELA-AU 20 31507724 31507724 single base substitution G A intron_variant MELA-AU 20 31507814 31507814 single base substitution C T intron_variant MELA-AU 20 31507956 31507956 single base substitution G A exon_variant MELA-AU 20 31507956 31507956 single base substitution G A missense_variant D206N 616G>A MELA-AU 20 31507964 31507964 single base substitution G A exon_variant MELA-AU 20 31507964 31507964 single base substitution G A synonymous_variant T208T 624G>A MELA-AU 20 31507972 31507972 single base substitution G A exon_variant MELA-AU 20 31507972 31507972 single base substitution G A missense_variant G211E 632G>A MELA-AU 20 31508027 31508028 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 20 31508027 31508028 multiple base substitution (>=2bp and <=200bp) CC AT splice_region_variant MELA-AU 20 31508141 31508141 single base substitution C T downstream_gene_variant MELA-AU 20 31508141 31508141 single base substitution C T intron_variant MELA-AU 20 31508260 31508260 single base substitution G A downstream_gene_variant MELA-AU 20 31508260 31508260 single base substitution G A intron_variant MELA-AU 20 31508363 31508363 single base substitution G A downstream_gene_variant MELA-AU 20 31508363 31508363 single base substitution G A intron_variant MELA-AU 20 31508393 31508393 single base substitution C T downstream_gene_variant MELA-AU 20 31508393 31508393 single base substitution C T intron_variant MELA-AU 20 31508496 31508496 single base substitution C T downstream_gene_variant MELA-AU 20 31508496 31508496 single base substitution C T intron_variant MELA-AU 20 31508650 31508650 single base substitution G A downstream_gene_variant MELA-AU 20 31508650 31508650 single base substitution G A intron_variant MELA-AU 20 31508845 31508845 single base substitution C T downstream_gene_variant MELA-AU 20 31508845 31508845 single base substitution C T intron_variant MELA-AU 20 31508959 31508959 single base substitution G A downstream_gene_variant MELA-AU 20 31508959 31508959 single base substitution G A intron_variant MELA-AU 20 31508994 31508994 single base substitution T A downstream_gene_variant MELA-AU 20 31508994 31508994 single base substitution T A intron_variant MELA-AU 20 31509073 31509073 single base substitution C T downstream_gene_variant MELA-AU 20 31509073 31509073 single base substitution C T intron_variant MELA-AU 20 31509317 31509317 single base substitution C T downstream_gene_variant MELA-AU 20 31509317 31509317 single base substitution C T intron_variant MELA-AU 20 31509319 31509319 single base substitution G A downstream_gene_variant MELA-AU 20 31509319 31509319 single base substitution G A intron_variant MELA-AU 20 31509392 31509392 single base substitution G A downstream_gene_variant MELA-AU 20 31509392 31509392 single base substitution G A intron_variant MELA-AU 20 31509427 31509427 single base substitution C T downstream_gene_variant MELA-AU 20 31509427 31509427 single base substitution C T intron_variant MELA-AU 20 31509559 31509559 insertion of <=200bp - T downstream_gene_variant MELA-AU 20 31509559 31509559 insertion of <=200bp - T intron_variant MELA-AU 20 31509700 31509700 single base substitution G A downstream_gene_variant MELA-AU 20 31509700 31509700 single base substitution G A intron_variant MELA-AU 20 31509745 31509745 single base substitution C T downstream_gene_variant MELA-AU 20 31509745 31509745 single base substitution C T intron_variant MELA-AU 20 31509759 31509759 single base substitution C T downstream_gene_variant MELA-AU 20 31509759 31509759 single base substitution C T intron_variant MELA-AU 20 31510030 31510030 single base substitution C T downstream_gene_variant MELA-AU 20 31510030 31510030 single base substitution C T intron_variant MELA-AU 20 31510163 31510163 single base substitution G C downstream_gene_variant MELA-AU 20 31510163 31510163 single base substitution G C intron_variant MELA-AU 20 31510885 31510885 single base substitution G A downstream_gene_variant MELA-AU 20 31510885 31510885 single base substitution G A intron_variant MELA-AU 20 31510917 31510917 single base substitution G A downstream_gene_variant MELA-AU 20 31510917 31510917 single base substitution G A intron_variant MELA-AU 20 31511458 31511458 single base substitution G A downstream_gene_variant MELA-AU 20 31511458 31511458 single base substitution G A intron_variant MELA-AU 20 31511563 31511563 single base substitution C T downstream_gene_variant MELA-AU 20 31511563 31511563 single base substitution C T intron_variant MELA-AU 20 31511593 31511593 single base substitution C T downstream_gene_variant MELA-AU 20 31511593 31511593 single base substitution C T intron_variant MELA-AU 20 31511902 31511902 single base substitution C T downstream_gene_variant MELA-AU 20 31511902 31511902 single base substitution C T intron_variant MELA-AU 20 31511908 31511908 single base substitution G A downstream_gene_variant MELA-AU 20 31511908 31511908 single base substitution G A intron_variant MELA-AU 20 31512328 31512328 single base substitution C T downstream_gene_variant MELA-AU 20 31512328 31512328 single base substitution C T intron_variant MELA-AU 20 31512626 31512627 deletion of <=200bp TG - downstream_gene_variant MELA-AU 20 31512626 31512627 deletion of <=200bp TG - intron_variant MELA-AU 20 31512750 31512750 single base substitution G A downstream_gene_variant MELA-AU 20 31512750 31512750 single base substitution G A intron_variant MELA-AU 20 31512819 31512819 single base substitution C T downstream_gene_variant MELA-AU 20 31512819 31512819 single base substitution C T intron_variant MELA-AU 20 31512975 31512975 single base substitution G A downstream_gene_variant MELA-AU 20 31512975 31512975 single base substitution G A intron_variant MELA-AU 20 31513049 31513049 single base substitution G A intron_variant MELA-AU 20 31513116 31513116 single base substitution C T intron_variant MELA-AU 20 31513135 31513135 single base substitution C T intron_variant MELA-AU 20 31513284 31513284 single base substitution C T intron_variant MELA-AU 20 31513453 31513453 single base substitution C T intron_variant MELA-AU 20 31513512 31513512 single base substitution G A intron_variant MELA-AU 20 31514191 31514191 single base substitution C T intron_variant MELA-AU 20 31514251 31514251 single base substitution T G intron_variant MELA-AU 20 31515361 31515361 single base substitution G A intron_variant MELA-AU 20 31515517 31515517 single base substitution C T intron_variant MELA-AU 20 31515797 31515797 single base substitution C T intron_variant MELA-AU 20 31515861 31515861 single base substitution C T intron_variant MELA-AU 20 31516053 31516053 single base substitution T A intron_variant MELA-AU 20 31516193 31516193 single base substitution C T intron_variant MELA-AU 20 31516263 31516263 single base substitution G A intron_variant MELA-AU 20 31516648 31516648 single base substitution G A intron_variant MELA-AU 20 31516765 31516765 single base substitution C T intron_variant MELA-AU 20 31516914 31516914 single base substitution C T intron_variant MELA-AU 20 31516921 31516921 single base substitution C T intron_variant MELA-AU 20 31517271 31517271 single base substitution C T intron_variant MELA-AU 20 31517284 31517284 single base substitution T C intron_variant MELA-AU 20 31517402 31517402 single base substitution C T intron_variant MELA-AU 20 31517649 31517649 single base substitution C T intron_variant MELA-AU 20 31517691 31517691 single base substitution G T intron_variant MELA-AU 20 31517796 31517796 single base substitution T A intron_variant MELA-AU 20 31517884 31517884 single base substitution G A intron_variant MELA-AU 20 31517913 31517913 single base substitution C T intron_variant MELA-AU 20 31518060 31518060 single base substitution G A intron_variant MELA-AU 20 31518068 31518068 single base substitution G A intron_variant MELA-AU 20 31518087 31518087 single base substitution C T intron_variant MELA-AU 20 31518211 31518211 single base substitution T A missense_variant F230Y 689T>A MELA-AU 20 31518314 31518314 single base substitution G A synonymous_variant L264L 792G>A MELA-AU 20 31518419 31518419 single base substitution C T synonymous_variant I299I 897C>T MELA-AU 20 31518428 31518428 single base substitution G A splice_region_variant MELA-AU 20 31518441 31518441 single base substitution G A intron_variant MELA-AU 20 31518798 31518798 single base substitution C T intron_variant MELA-AU 20 31518836 31518836 single base substitution G A intron_variant MELA-AU 20 31519388 31519388 single base substitution C T downstream_gene_variant MELA-AU 20 31519388 31519388 single base substitution C T intragenic_variant MELA-AU 20 31519478 31519478 single base substitution C T downstream_gene_variant MELA-AU 20 31519478 31519478 single base substitution C T intragenic_variant MELA-AU 20 31520065 31520065 single base substitution C T downstream_gene_variant MELA-AU 20 31520065 31520065 single base substitution C T intragenic_variant MELA-AU 20 31520109 31520109 single base substitution G A downstream_gene_variant MELA-AU 20 31520109 31520109 single base substitution G A intragenic_variant MELA-AU 20 31520149 31520149 single base substitution C T downstream_gene_variant MELA-AU 20 31520149 31520149 single base substitution C T intragenic_variant MELA-AU 20 31520314 31520315 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 20 31520314 31520315 multiple base substitution (>=2bp and <=200bp) CC AT intragenic_variant MELA-AU 20 31520468 31520468 single base substitution G A downstream_gene_variant MELA-AU 20 31520468 31520468 single base substitution G A intragenic_variant MELA-AU 20 31521098 31521098 single base substitution G A downstream_gene_variant MELA-AU 20 31521098 31521098 single base substitution G A intragenic_variant MELA-AU 20 31521413 31521413 single base substitution C T downstream_gene_variant MELA-AU 20 31521413 31521413 single base substitution C T intragenic_variant MELA-AU 20 31521532 31521532 single base substitution C T downstream_gene_variant MELA-AU 20 31521532 31521532 single base substitution C T intragenic_variant MELA-AU 20 31521617 31521617 single base substitution C T downstream_gene_variant MELA-AU 20 31521617 31521617 single base substitution C T intragenic_variant MELA-AU 20 31521790 31521790 single base substitution C T downstream_gene_variant MELA-AU 20 31521790 31521790 single base substitution C T intragenic_variant MELA-AU 20 31521864 31521864 single base substitution G A downstream_gene_variant MELA-AU 20 31521864 31521864 single base substitution G A intragenic_variant MELA-AU 20 31521985 31521985 single base substitution C T downstream_gene_variant MELA-AU 20 31521985 31521985 single base substitution C T intragenic_variant MELA-AU 20 31522035 31522035 single base substitution C T downstream_gene_variant MELA-AU 20 31522035 31522035 single base substitution C T intragenic_variant MELA-AU 20 31522093 31522093 single base substitution T C downstream_gene_variant MELA-AU 20 31522093 31522093 single base substitution T C intragenic_variant MELA-AU 20 31522096 31522096 single base substitution C T downstream_gene_variant MELA-AU 20 31522096 31522096 single base substitution C T intragenic_variant MELA-AU 20 31522420 31522420 single base substitution C T downstream_gene_variant MELA-AU 20 31522420 31522420 single base substitution C T intragenic_variant MELA-AU 20 31522450 31522450 single base substitution G A downstream_gene_variant MELA-AU 20 31522450 31522450 single base substitution G A intragenic_variant MELA-AU 20 31522477 31522477 single base substitution T C downstream_gene_variant MELA-AU 20 31522477 31522477 single base substitution T C intragenic_variant MELA-AU 20 31522498 31522498 single base substitution G A downstream_gene_variant MELA-AU 20 31522498 31522498 single base substitution G A intragenic_variant MELA-AU 20 31522708 31522708 single base substitution C T downstream_gene_variant MELA-AU 20 31522708 31522708 single base substitution C T intragenic_variant MELA-AU 20 31522743 31522743 single base substitution C T downstream_gene_variant MELA-AU 20 31522743 31522743 single base substitution C T intragenic_variant MELA-AU 20 31522872 31522872 single base substitution G A downstream_gene_variant MELA-AU 20 31522872 31522872 single base substitution G A intragenic_variant MELA-AU 20 31523224 31523224 single base substitution C T downstream_gene_variant MELA-AU 20 31523224 31523224 single base substitution C T intragenic_variant MELA-AU 20 31523537 31523537 single base substitution C T downstream_gene_variant MELA-AU 20 31523537 31523537 single base substitution C T intragenic_variant MELA-AU 20 31523622 31523622 single base substitution C T downstream_gene_variant MELA-AU 20 31523622 31523622 single base substitution C T intragenic_variant MELA-AU 20 31523636 31523636 single base substitution C T downstream_gene_variant MELA-AU 20 31523636 31523636 single base substitution C T intragenic_variant MELA-AU 20 31523668 31523668 single base substitution T G downstream_gene_variant MELA-AU 20 31523668 31523668 single base substitution T G intragenic_variant MELA-AU 20 31524081 31524081 single base substitution C T downstream_gene_variant MELA-AU 20 31524081 31524081 single base substitution C T intragenic_variant MELA-AU 20 31524131 31524131 single base substitution C T downstream_gene_variant MELA-AU 20 31524131 31524131 single base substitution C T intragenic_variant MELA-AU 20 31524349 31524349 single base substitution C T intragenic_variant MELA-AU 20 31524642 31524642 single base substitution C A intragenic_variant MELA-AU 20 31524950 31524950 single base substitution C T intragenic_variant MELA-AU 20 31525027 31525027 single base substitution C T intragenic_variant MELA-AU 20 31525150 31525150 single base substitution C T intragenic_variant MELA-AU 20 31525246 31525246 single base substitution G A intragenic_variant MELA-AU 20 31525357 31525357 single base substitution A C intragenic_variant MELA-AU 20 31525420 31525421 multiple base substitution (>=2bp and <=200bp) AA GC intragenic_variant MELA-AU 20 31525436 31525436 single base substitution T C intragenic_variant MELA-AU 20 31525743 31525743 single base substitution T C intragenic_variant MELA-AU 20 31525818 31525818 single base substitution G A intragenic_variant MELA-AU 20 31526104 31526104 single base substitution G A intragenic_variant MELA-AU 20 31526186 31526186 single base substitution C T intragenic_variant MELA-AU 20 31526420 31526420 single base substitution A G intragenic_variant MELA-AU 20 31526847 31526847 single base substitution C T intragenic_variant MELA-AU 20 31526855 31526855 single base substitution C T intragenic_variant MELA-AU 20 31526947 31526947 single base substitution T C intragenic_variant MELA-AU 20 31527057 31527057 single base substitution C T intragenic_variant MELA-AU 20 31527105 31527105 single base substitution T G intragenic_variant MELA-AU 20 31527138 31527138 single base substitution G A intragenic_variant MELA-AU 20 31527179 31527179 single base substitution C T intragenic_variant MELA-AU 20 31527192 31527192 single base substitution G A intragenic_variant MELA-AU 20 31527415 31527415 single base substitution C T intragenic_variant MELA-AU 20 31527420 31527420 single base substitution C T intragenic_variant MELA-AU 20 31527484 31527484 single base substitution C T intragenic_variant MELA-AU 20 31527636 31527636 single base substitution G A intragenic_variant MELA-AU 20 31527648 31527648 single base substitution C T intragenic_variant MELA-AU 20 31527954 31527954 single base substitution G A intragenic_variant MELA-AU 20 31528124 31528124 single base substitution G A intragenic_variant MELA-AU 20 31528126 31528126 single base substitution G A intragenic_variant MELA-AU 20 31528135 31528135 single base substitution A T intragenic_variant MELA-AU 20 31528423 31528423 single base substitution C T intragenic_variant MELA-AU 20 31528633 31528633 single base substitution C T intragenic_variant MELA-AU 20 31528776 31528776 single base substitution C T intragenic_variant MELA-AU 20 31528940 31528940 single base substitution C T intragenic_variant MELA-AU 20 31528965 31528965 single base substitution G A intragenic_variant MELA-AU 20 31529222 31529222 single base substitution C A intragenic_variant MELA-AU 20 31529612 31529612 single base substitution A C intragenic_variant MELA-AU 20 31529704 31529704 single base substitution G A intragenic_variant MELA-AU 20 31529787 31529787 single base substitution G A intragenic_variant MELA-AU 20 31529878 31529878 single base substitution C T intragenic_variant MELA-AU 20 31530290 31530290 single base substitution C T intragenic_variant MELA-AU 20 31530499 31530499 single base substitution T C intragenic_variant MELA-AU 20 31530507 31530507 single base substitution C T intragenic_variant MELA-AU 20 31530546 31530546 single base substitution C T intragenic_variant MELA-AU 20 31530573 31530573 single base substitution C T intragenic_variant MELA-AU 20 31530672 31530672 single base substitution C T intragenic_variant MELA-AU 20 31530943 31530943 single base substitution C T intragenic_variant MELA-AU 20 31531555 31531555 single base substitution C T intragenic_variant MELA-AU 20 31531663 31531663 single base substitution C T intragenic_variant MELA-AU 20 31531664 31531664 single base substitution C T intragenic_variant MELA-AU 20 31531846 31531846 single base substitution G A intragenic_variant MELA-AU 20 31531859 31531859 single base substitution C T intragenic_variant MELA-AU 20 31532046 31532047 multiple base substitution (>=2bp and <=200bp) CC TT intragenic_variant MELA-AU 20 31532225 31532225 single base substitution C T intragenic_variant MELA-AU 20 31532535 31532535 single base substitution C T intragenic_variant MELA-AU 20 31532587 31532587 single base substitution C T intragenic_variant MELA-AU 20 31532654 31532654 single base substitution C T intragenic_variant MELA-AU 20 31532742 31532742 single base substitution C T intragenic_variant MELA-AU 20 31532778 31532778 single base substitution G A intragenic_variant MELA-AU 20 31533434 31533434 single base substitution C T intragenic_variant MELA-AU 20 31533451 31533451 single base substitution C T intragenic_variant MELA-AU 20 31533749 31533749 single base substitution C T intragenic_variant MELA-AU 20 31533803 31533803 single base substitution G A intragenic_variant MELA-AU 20 31533869 31533869 single base substitution C T intragenic_variant MELA-AU 20 31533893 31533893 single base substitution G A intragenic_variant MELA-AU 20 31533944 31533944 single base substitution C T intragenic_variant MELA-AU 20 31533970 31533970 single base substitution T A intragenic_variant MELA-AU 20 31534488 31534488 single base substitution T C intragenic_variant MELA-AU 20 31534934 31534934 single base substitution G A intragenic_variant MELA-AU 20 31535316 31535316 single base substitution C T intragenic_variant MELA-AU 20 31535322 31535322 single base substitution G A intragenic_variant MELA-AU 20 31535434 31535434 single base substitution G A intragenic_variant MELA-AU 20 31535467 31535467 single base substitution G A intragenic_variant MELA-AU 20 31535593 31535593 single base substitution G A intragenic_variant MELA-AU 20 31535651 31535651 single base substitution C T intragenic_variant MELA-AU 20 31535666 31535666 single base substitution G A intragenic_variant MELA-AU 20 31535804 31535804 single base substitution G A intragenic_variant MELA-AU 20 31535833 31535833 single base substitution G A intragenic_variant MELA-AU 20 31536042 31536042 single base substitution G A intragenic_variant MELA-AU 20 31536052 31536052 single base substitution C T intragenic_variant MELA-AU 20 31536109 31536109 single base substitution C T intragenic_variant MELA-AU 20 31536210 31536210 single base substitution G A intragenic_variant MELA-AU 20 31536425 31536425 single base substitution C T intragenic_variant MELA-AU 20 31536515 31536515 single base substitution T C intragenic_variant MELA-AU 20 31536596 31536596 single base substitution C T intragenic_variant MELA-AU 20 31536734 31536734 single base substitution C T intragenic_variant MELA-AU 20 31536805 31536805 single base substitution G A intragenic_variant MELA-AU 20 31537125 31537125 single base substitution C T intragenic_variant MELA-AU 20 31537156 31537156 single base substitution G A intragenic_variant MELA-AU 20 31537546 31537546 single base substitution C T intragenic_variant MELA-AU 20 31537681 31537681 single base substitution C T intragenic_variant MELA-AU 20 31537794 31537794 single base substitution A G intragenic_variant MELA-AU 20 31537900 31537900 single base substitution C T intragenic_variant MELA-AU 20 31538063 31538063 single base substitution G T intragenic_variant MELA-AU 20 31539068 31539068 single base substitution C T intragenic_variant MELA-AU 20 31539146 31539146 single base substitution A G intragenic_variant MELA-AU 20 31539223 31539223 single base substitution G A intragenic_variant MELA-AU 20 31539302 31539302 single base substitution G A intragenic_variant MELA-AU 20 31539376 31539376 single base substitution G A intragenic_variant MELA-AU 20 31539391 31539391 single base substitution G A intragenic_variant MELA-AU 20 31539685 31539685 single base substitution G A intragenic_variant MELA-AU 20 31539915 31539915 single base substitution T A intragenic_variant MELA-AU 20 31540155 31540155 single base substitution C T intragenic_variant MELA-AU 20 31540311 31540311 single base substitution C T intragenic_variant MELA-AU 20 31540683 31540683 single base substitution C T intragenic_variant MELA-AU 20 31540915 31540915 single base substitution A T intragenic_variant MELA-AU 20 31541026 31541026 single base substitution C T intragenic_variant MELA-AU 20 31541188 31541188 single base substitution C T intragenic_variant MELA-AU 20 31541273 31541273 single base substitution C T intragenic_variant MELA-AU 20 31541568 31541568 single base substitution C T intragenic_variant MELA-AU 20 31541582 31541582 single base substitution C T intragenic_variant MELA-AU 20 31541588 31541588 single base substitution C T intragenic_variant MELA-AU 20 31541740 31541740 single base substitution C T intragenic_variant MELA-AU 20 31542019 31542019 single base substitution T G intragenic_variant MELA-AU 20 31542032 31542032 single base substitution C T intragenic_variant MELA-AU 20 31542046 31542046 single base substitution C T intragenic_variant MELA-AU 20 31542050 31542050 single base substitution G A intragenic_variant MELA-AU 20 31542131 31542131 single base substitution C T intragenic_variant MELA-AU 20 31542199 31542199 single base substitution C T intragenic_variant MELA-AU 20 31542273 31542273 single base substitution C T intragenic_variant MELA-AU 20 31542420 31542420 single base substitution C T intragenic_variant MELA-AU 20 31542426 31542426 single base substitution G C intragenic_variant MELA-AU 20 31542431 31542431 single base substitution C T intragenic_variant MELA-AU 20 31542525 31542525 single base substitution T A intragenic_variant MELA-AU 20 31542549 31542549 single base substitution C T intragenic_variant MELA-AU 20 31543066 31543066 single base substitution C T intragenic_variant MELA-AU 20 31543066 31543066 single base substitution C T upstream_gene_variant MELA-AU 20 31543250 31543250 single base substitution G A intragenic_variant MELA-AU 20 31543250 31543250 single base substitution G A upstream_gene_variant MELA-AU 20 31543381 31543381 single base substitution C T intragenic_variant MELA-AU 20 31543381 31543381 single base substitution C T upstream_gene_variant MELA-AU 20 31543649 31543649 single base substitution G A intragenic_variant MELA-AU 20 31543649 31543649 single base substitution G A upstream_gene_variant MELA-AU 20 31543714 31543714 single base substitution T C intragenic_variant MELA-AU 20 31543714 31543714 single base substitution T C upstream_gene_variant MELA-AU 20 31543828 31543828 single base substitution C T intragenic_variant MELA-AU 20 31543828 31543828 single base substitution C T upstream_gene_variant MELA-AU 20 31543873 31543873 single base substitution C T intragenic_variant MELA-AU 20 31543873 31543873 single base substitution C T upstream_gene_variant MELA-AU 20 31543886 31543886 single base substitution C T intragenic_variant MELA-AU 20 31543886 31543886 single base substitution C T upstream_gene_variant MELA-AU 20 31543957 31543957 single base substitution G A intragenic_variant MELA-AU 20 31543957 31543957 single base substitution G A upstream_gene_variant MELA-AU 20 31544066 31544066 deletion of <=200bp T - intragenic_variant MELA-AU 20 31544066 31544066 deletion of <=200bp T - upstream_gene_variant MELA-AU 20 31544118 31544118 single base substitution C T intragenic_variant MELA-AU 20 31544118 31544118 single base substitution C T upstream_gene_variant MELA-AU 20 31544252 31544252 single base substitution C T intragenic_variant MELA-AU 20 31544252 31544252 single base substitution C T upstream_gene_variant MELA-AU 20 31544495 31544495 single base substitution C T intragenic_variant MELA-AU 20 31544495 31544495 single base substitution C T upstream_gene_variant MELA-AU 20 31544774 31544774 single base substitution C T intragenic_variant MELA-AU 20 31544774 31544774 single base substitution C T upstream_gene_variant MELA-AU 20 31544877 31544877 single base substitution T C intragenic_variant MELA-AU 20 31544877 31544877 single base substitution T C upstream_gene_variant MELA-AU 20 31544950 31544950 single base substitution C T intragenic_variant MELA-AU 20 31544950 31544950 single base substitution C T upstream_gene_variant MELA-AU 20 31544967 31544967 single base substitution C T intragenic_variant MELA-AU 20 31544967 31544967 single base substitution C T upstream_gene_variant MELA-AU 20 31545237 31545237 single base substitution C T intragenic_variant MELA-AU 20 31545237 31545237 single base substitution C T upstream_gene_variant MELA-AU 20 31545379 31545379 single base substitution G A intragenic_variant MELA-AU 20 31545379 31545379 single base substitution G A upstream_gene_variant MELA-AU 20 31545396 31545396 single base substitution C T intragenic_variant MELA-AU 20 31545396 31545396 single base substitution C T upstream_gene_variant MELA-AU 20 31545433 31545433 single base substitution C T intragenic_variant MELA-AU 20 31545433 31545433 single base substitution C T upstream_gene_variant MELA-AU 20 31545492 31545492 single base substitution C T intragenic_variant MELA-AU 20 31545492 31545492 single base substitution C T upstream_gene_variant MELA-AU 20 31545511 31545511 single base substitution G A intragenic_variant MELA-AU 20 31545511 31545511 single base substitution G A upstream_gene_variant MELA-AU 20 31545554 31545554 single base substitution C T intragenic_variant MELA-AU 20 31545554 31545554 single base substitution C T upstream_gene_variant MELA-AU 20 31545727 31545727 single base substitution A T intragenic_variant MELA-AU 20 31545727 31545727 single base substitution A T upstream_gene_variant MELA-AU 20 31545844 31545844 single base substitution C T intragenic_variant MELA-AU 20 31545844 31545844 single base substitution C T upstream_gene_variant MELA-AU 20 31546071 31546071 single base substitution C T intragenic_variant MELA-AU 20 31546071 31546071 single base substitution C T upstream_gene_variant MELA-AU 20 31546118 31546118 single base substitution C T intragenic_variant MELA-AU 20 31546118 31546118 single base substitution C T upstream_gene_variant MELA-AU 20 31546317 31546317 single base substitution C T intragenic_variant MELA-AU 20 31546317 31546317 single base substitution C T upstream_gene_variant MELA-AU 20 31546317 31546318 multiple base substitution (>=2bp and <=200bp) CC TT intragenic_variant MELA-AU 20 31546317 31546318 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 20 31546594 31546594 single base substitution G A intragenic_variant MELA-AU 20 31546594 31546594 single base substitution G A upstream_gene_variant MELA-AU 20 31546595 31546595 single base substitution G A intragenic_variant MELA-AU 20 31546595 31546595 single base substitution G A upstream_gene_variant MELA-AU 20 31546596 31546596 single base substitution A T intragenic_variant MELA-AU 20 31546596 31546596 single base substitution A T upstream_gene_variant MELA-AU 20 31546698 31546698 single base substitution G A intragenic_variant MELA-AU 20 31546698 31546698 single base substitution G A upstream_gene_variant MELA-AU 20 31546767 31546767 single base substitution C T intragenic_variant MELA-AU 20 31546767 31546767 single base substitution C T upstream_gene_variant MELA-AU 20 31546987 31546987 single base substitution C T intragenic_variant MELA-AU 20 31546987 31546987 single base substitution C T upstream_gene_variant MELA-AU 20 31547058 31547058 single base substitution G A intragenic_variant MELA-AU 20 31547058 31547058 single base substitution G A upstream_gene_variant MELA-AU 20 31547272 31547272 single base substitution G A intragenic_variant MELA-AU 20 31547272 31547272 single base substitution G A upstream_gene_variant MELA-AU 20 31547306 31547306 single base substitution G A intragenic_variant MELA-AU 20 31547306 31547306 single base substitution G A upstream_gene_variant MELA-AU 20 31547389 31547389 single base substitution G A intragenic_variant MELA-AU 20 31547389 31547389 single base substitution G A upstream_gene_variant MELA-AU 20 31547538 31547538 single base substitution G A intragenic_variant MELA-AU 20 31547538 31547538 single base substitution G A upstream_gene_variant MELA-AU 20 31547552 31547552 single base substitution G A intragenic_variant MELA-AU 20 31547552 31547552 single base substitution G A upstream_gene_variant MELA-AU 20 31547573 31547573 single base substitution C T intragenic_variant MELA-AU 20 31547573 31547573 single base substitution C T upstream_gene_variant MELA-AU 20 31547606 31547606 single base substitution G A intragenic_variant MELA-AU 20 31547606 31547606 single base substitution G A upstream_gene_variant MELA-AU 20 31547735 31547735 single base substitution C T missense_variant P29S 85C>T MELA-AU 20 31547737 31547737 single base substitution C T synonymous_variant P29P 87C>T MELA-AU 20 31547836 31547836 single base substitution C T intron_variant MELA-AU 20 31548018 31548018 single base substitution A C intron_variant MELA-AU 20 31548195 31548195 single base substitution G A intron_variant MELA-AU 20 31548207 31548207 single base substitution G A intron_variant MELA-AU 20 31548398 31548398 single base substitution C T intron_variant MELA-AU 20 31548675 31548675 single base substitution G A intron_variant MELA-AU 20 31548741 31548741 single base substitution G A intron_variant MELA-AU 20 31548862 31548862 single base substitution C T intron_variant MELA-AU 20 31549265 31549265 single base substitution C T downstream_gene_variant MELA-AU 20 31549273 31549273 single base substitution C T downstream_gene_variant MELA-AU 20 31549343 31549343 single base substitution C T downstream_gene_variant MELA-AU 20 31549350 31549350 single base substitution C T downstream_gene_variant MELA-AU 20 31549376 31549376 single base substitution C T downstream_gene_variant MELA-AU 20 31549388 31549388 single base substitution G A downstream_gene_variant MELA-AU 20 31549399 31549399 single base substitution C T downstream_gene_variant MELA-AU 20 31549549 31549549 single base substitution G A downstream_gene_variant MELA-AU 20 31549824 31549824 single base substitution G A downstream_gene_variant MELA-AU 20 31549995 31549995 single base substitution C T downstream_gene_variant MELA-AU 20 31550020 31550020 single base substitution C T downstream_gene_variant MELA-AU 20 31550033 31550033 single base substitution G A downstream_gene_variant MELA-AU 20 31550140 31550140 single base substitution G A downstream_gene_variant MELA-AU 20 31550165 31550166 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 20 31550337 31550337 single base substitution G A downstream_gene_variant MELA-AU 20 31550533 31550533 single base substitution G A downstream_gene_variant MELA-AU 20 31550622 31550622 single base substitution C T downstream_gene_variant MELA-AU 20 31550676 31550676 single base substitution C T downstream_gene_variant MELA-AU 20 31550841 31550841 single base substitution G A downstream_gene_variant MELA-AU 20 31550915 31550915 single base substitution G A downstream_gene_variant MELA-AU 20 31551124 31551124 single base substitution G A downstream_gene_variant MELA-AU 20 31551137 31551137 single base substitution G A downstream_gene_variant MELA-AU 20 31551257 31551257 single base substitution C T downstream_gene_variant MELA-AU 20 31551322 31551322 single base substitution G A downstream_gene_variant MELA-AU 20 31551377 31551377 single base substitution T C downstream_gene_variant MELA-AU 20 31551631 31551631 single base substitution T C downstream_gene_variant MELA-AU 20 31551805 31551805 single base substitution C T downstream_gene_variant MELA-AU 20 31551869 31551869 single base substitution C G downstream_gene_variant MELA-AU 20 31552137 31552137 single base substitution C T downstream_gene_variant MELA-AU 20 31552259 31552259 single base substitution G A downstream_gene_variant MELA-AU 20 31552481 31552481 single base substitution G A downstream_gene_variant MELA-AU 20 31552676 31552676 single base substitution C T downstream_gene_variant MELA-AU 20 31552867 31552867 single base substitution G A downstream_gene_variant MELA-AU 20 31552966 31552966 single base substitution C T downstream_gene_variant MELA-AU 20 31553103 31553103 single base substitution C T downstream_gene_variant MELA-AU 20 31553192 31553192 single base substitution G A downstream_gene_variant MELA-AU 20 31553211 31553211 single base substitution C T downstream_gene_variant MELA-AU 20 31553382 31553382 single base substitution C T downstream_gene_variant MELA-AU 20 31553428 31553428 single base substitution G A downstream_gene_variant MELA-AU 20 31553509 31553509 single base substitution G A downstream_gene_variant MELA-AU 20 31553525 31553525 single base substitution C T downstream_gene_variant MELA-AU 20 31553702 31553702 single base substitution G A downstream_gene_variant MELA-AU 20 31553752 31553752 single base substitution G A downstream_gene_variant MELA-AU 20 31553921 31553921 single base substitution G A downstream_gene_variant MELA-AU 20 31553984 31553984 single base substitution C T downstream_gene_variant ORCA-IN 20 31449789 31449790 deletion of <=200bp TG - intron_variant ORCA-IN 20 31480654 31480654 deletion of <=200bp C - intron_variant ORCA-IN 20 31536336 31536336 single base substitution A G intragenic_variant ORCA-IN 20 31544063 31544063 single base substitution A G intragenic_variant ORCA-IN 20 31544063 31544063 single base substitution A G upstream_gene_variant OV-AU 20 31455260 31455260 single base substitution G C intron_variant OV-AU 20 31456526 31456526 single base substitution C A intron_variant OV-AU 20 31460954 31460954 single base substitution A C intron_variant OV-AU 20 31462467 31462467 single base substitution C G intron_variant OV-AU 20 31469407 31469407 single base substitution T G intron_variant OV-AU 20 31472797 31472797 single base substitution G T intron_variant OV-AU 20 31479648 31479648 single base substitution T A intron_variant OV-AU 20 31484506 31484506 single base substitution C A intron_variant OV-AU 20 31484506 31484506 single base substitution C A upstream_gene_variant OV-AU 20 31485436 31485436 single base substitution C T intron_variant OV-AU 20 31485436 31485436 single base substitution C T upstream_gene_variant OV-AU 20 31486393 31486393 single base substitution T C exon_variant OV-AU 20 31486393 31486393 single base substitution T C missense_variant L351P 1052T>C OV-AU 20 31491111 31491111 single base substitution A T intron_variant OV-AU 20 31499572 31499572 single base substitution C T downstream_gene_variant OV-AU 20 31499572 31499572 single base substitution C T intron_variant OV-AU 20 31499891 31499891 single base substitution G A intron_variant OV-AU 20 31499891 31499891 single base substitution G A upstream_gene_variant OV-AU 20 31503843 31503843 single base substitution C A intron_variant OV-AU 20 31503843 31503843 single base substitution C A upstream_gene_variant OV-AU 20 31505399 31505399 single base substitution G A intron_variant OV-AU 20 31508034 31508034 single base substitution C T downstream_gene_variant OV-AU 20 31508034 31508034 single base substitution C T intron_variant OV-AU 20 31511170 31511170 single base substitution T C downstream_gene_variant OV-AU 20 31511170 31511170 single base substitution T C intron_variant OV-AU 20 31512486 31512486 single base substitution T G downstream_gene_variant OV-AU 20 31512486 31512486 single base substitution T G intron_variant OV-AU 20 31515938 31515938 single base substitution T C intron_variant OV-AU 20 31516407 31516407 single base substitution T C intron_variant OV-AU 20 31524466 31524466 single base substitution A G intragenic_variant OV-AU 20 31526091 31526091 single base substitution T A intragenic_variant OV-AU 20 31526933 31526933 single base substitution C T intragenic_variant OV-AU 20 31526943 31526943 single base substitution T C intragenic_variant OV-AU 20 31527037 31527037 single base substitution C A intragenic_variant OV-AU 20 31530348 31530348 single base substitution A G intragenic_variant OV-AU 20 31530570 31530570 single base substitution T G intragenic_variant OV-AU 20 31531709 31531709 single base substitution G T intragenic_variant OV-AU 20 31533335 31533335 single base substitution G C intragenic_variant OV-AU 20 31534363 31534363 single base substitution T A intragenic_variant OV-AU 20 31536213 31536213 single base substitution G C intragenic_variant OV-AU 20 31538134 31538134 single base substitution C T intragenic_variant OV-AU 20 31543643 31543643 single base substitution A G intragenic_variant OV-AU 20 31543643 31543643 single base substitution A G upstream_gene_variant OV-AU 20 31543775 31543775 single base substitution T A intragenic_variant OV-AU 20 31543775 31543775 single base substitution T A upstream_gene_variant OV-AU 20 31552149 31552149 single base substitution C T downstream_gene_variant OV-AU 20 31552408 31552408 single base substitution C T downstream_gene_variant OV-AU 20 31552766 31552766 single base substitution C T downstream_gene_variant PACA-AU 20 31442647 31442647 deletion of <=200bp T - upstream_gene_variant PACA-AU 20 31443904 31443904 single base substitution T C upstream_gene_variant PACA-AU 20 31443905 31443905 single base substitution T C upstream_gene_variant PACA-AU 20 31446010 31446010 single base substitution A G upstream_gene_variant PACA-AU 20 31469953 31469953 single base substitution G A intron_variant PACA-AU 20 31481225 31481225 single base substitution G A intron_variant PACA-AU 20 31481225 31481225 single base substitution G A upstream_gene_variant PACA-AU 20 31481357 31481357 single base substitution C T intron_variant PACA-AU 20 31481357 31481357 single base substitution C T upstream_gene_variant PACA-AU 20 31485107 31485107 single base substitution C T intron_variant PACA-AU 20 31485107 31485107 single base substitution C T upstream_gene_variant PACA-AU 20 31486232 31486232 single base substitution T C exon_variant PACA-AU 20 31486232 31486232 single base substitution T C intron_variant PACA-AU 20 31486302 31486302 single base substitution C T exon_variant PACA-AU 20 31486302 31486302 single base substitution C T missense_variant L321F 961C>T PACA-AU 20 31486918 31486918 single base substitution G A intron_variant PACA-AU 20 31490291 31490291 deletion of <=200bp T - intron_variant PACA-AU 20 31491348 31491348 single base substitution C T exon_variant PACA-AU 20 31491348 31491348 single base substitution C T intron_variant PACA-AU 20 31492675 31492675 single base substitution C T downstream_gene_variant PACA-AU 20 31492675 31492675 single base substitution C T intron_variant PACA-AU 20 31494798 31494798 single base substitution A G downstream_gene_variant PACA-AU 20 31494798 31494798 single base substitution A G intragenic_variant PACA-AU 20 31494798 31494798 single base substitution A G upstream_gene_variant PACA-AU 20 31495278 31495278 single base substitution A C downstream_gene_variant PACA-AU 20 31495278 31495278 single base substitution A C intragenic_variant PACA-AU 20 31495278 31495278 single base substitution A C upstream_gene_variant PACA-AU 20 31500888 31500888 single base substitution A G intron_variant PACA-AU 20 31500888 31500888 single base substitution A G upstream_gene_variant PACA-AU 20 31501274 31501274 single base substitution T C intron_variant PACA-AU 20 31501274 31501274 single base substitution T C upstream_gene_variant PACA-AU 20 31502481 31502481 single base substitution T G intron_variant PACA-AU 20 31502481 31502481 single base substitution T G upstream_gene_variant PACA-AU 20 31506500 31506500 single base substitution T A intron_variant PACA-AU 20 31508069 31508069 single base substitution G A downstream_gene_variant PACA-AU 20 31508069 31508069 single base substitution G A intron_variant PACA-AU 20 31509935 31509935 single base substitution A T downstream_gene_variant PACA-AU 20 31509935 31509935 single base substitution A T intron_variant PACA-AU 20 31511577 31511577 single base substitution C T downstream_gene_variant PACA-AU 20 31511577 31511577 single base substitution C T intron_variant PACA-AU 20 31512207 31512207 single base substitution G A downstream_gene_variant PACA-AU 20 31512207 31512207 single base substitution G A intron_variant PACA-AU 20 31513851 31513851 single base substitution C T intron_variant PACA-AU 20 31514461 31514461 deletion of <=200bp C - intron_variant PACA-AU 20 31518755 31518755 single base substitution T G intron_variant PACA-AU 20 31520056 31520056 single base substitution G A downstream_gene_variant PACA-AU 20 31520056 31520056 single base substitution G A intragenic_variant PACA-AU 20 31523462 31523462 single base substitution G A downstream_gene_variant PACA-AU 20 31523462 31523462 single base substitution G A intragenic_variant PACA-AU 20 31526832 31526832 single base substitution C T intragenic_variant PACA-AU 20 31528926 31528926 single base substitution C T intragenic_variant PACA-AU 20 31529366 31529366 single base substitution G A intragenic_variant PACA-AU 20 31530829 31530829 single base substitution T C intragenic_variant PACA-AU 20 31532961 31532961 single base substitution A T intragenic_variant PACA-AU 20 31540424 31540424 single base substitution G C intragenic_variant PACA-AU 20 31540529 31540529 single base substitution G A intragenic_variant PACA-AU 20 31542900 31542900 single base substitution C A intragenic_variant PACA-AU 20 31542900 31542900 single base substitution C A upstream_gene_variant PACA-AU 20 31543071 31543071 single base substitution C A intragenic_variant PACA-AU 20 31543071 31543071 single base substitution C A upstream_gene_variant PACA-AU 20 31543983 31543983 single base substitution T A intragenic_variant PACA-AU 20 31543983 31543983 single base substitution T A upstream_gene_variant PACA-AU 20 31545476 31545476 single base substitution G C intragenic_variant PACA-AU 20 31545476 31545476 single base substitution G C upstream_gene_variant PACA-AU 20 31547355 31547355 single base substitution A G intragenic_variant PACA-AU 20 31547355 31547355 single base substitution A G upstream_gene_variant PACA-AU 20 31549360 31549360 single base substitution C A downstream_gene_variant PACA-CA 20 31442492 31442492 insertion of <=200bp - TA upstream_gene_variant PACA-CA 20 31448200 31448200 deletion of <=200bp T - intron_variant PACA-CA 20 31448865 31448865 single base substitution T C intron_variant PACA-CA 20 31451738 31451738 single base substitution G A intron_variant PACA-CA 20 31452388 31452388 deletion of <=200bp A - intron_variant PACA-CA 20 31456269 31456269 single base substitution A T intron_variant PACA-CA 20 31456514 31456514 single base substitution G A intron_variant PACA-CA 20 31459783 31459783 deletion of <=200bp C - intron_variant PACA-CA 20 31460130 31460130 single base substitution C A intron_variant PACA-CA 20 31467353 31467353 single base substitution T C intron_variant PACA-CA 20 31473355 31473355 single base substitution G A missense_variant R159Q 476G>A PACA-CA 20 31475268 31475268 single base substitution G A intron_variant PACA-CA 20 31475440 31475440 single base substitution C T intron_variant PACA-CA 20 31477784 31477784 single base substitution G A intron_variant PACA-CA 20 31479614 31479614 single base substitution G C intron_variant PACA-CA 20 31481553 31481553 single base substitution G T intron_variant PACA-CA 20 31481553 31481553 single base substitution G T upstream_gene_variant PACA-CA 20 31490175 31490175 single base substitution A T intron_variant PACA-CA 20 31495051 31495051 single base substitution T A downstream_gene_variant PACA-CA 20 31495051 31495051 single base substitution T A intragenic_variant PACA-CA 20 31495051 31495051 single base substitution T A upstream_gene_variant PACA-CA 20 31495340 31495340 single base substitution G A downstream_gene_variant PACA-CA 20 31495340 31495340 single base substitution G A intragenic_variant PACA-CA 20 31495340 31495340 single base substitution G A upstream_gene_variant PACA-CA 20 31496055 31496055 single base substitution C T downstream_gene_variant PACA-CA 20 31496055 31496055 single base substitution C T intragenic_variant PACA-CA 20 31496055 31496055 single base substitution C T upstream_gene_variant PACA-CA 20 31496604 31496604 single base substitution G A downstream_gene_variant PACA-CA 20 31496604 31496604 single base substitution G A intragenic_variant PACA-CA 20 31496604 31496604 single base substitution G A upstream_gene_variant PACA-CA 20 31498669 31498669 single base substitution G A downstream_gene_variant PACA-CA 20 31498669 31498669 single base substitution G A intragenic_variant PACA-CA 20 31498669 31498669 single base substitution G A upstream_gene_variant PACA-CA 20 31499981 31499981 single base substitution G A intron_variant PACA-CA 20 31499981 31499981 single base substitution G A upstream_gene_variant PACA-CA 20 31501588 31501588 single base substitution A C intron_variant PACA-CA 20 31501588 31501588 single base substitution A C upstream_gene_variant PACA-CA 20 31502882 31502882 single base substitution A T intron_variant PACA-CA 20 31502882 31502882 single base substitution A T upstream_gene_variant PACA-CA 20 31505329 31505329 single base substitution C T intron_variant PACA-CA 20 31507847 31507847 single base substitution C A intron_variant PACA-CA 20 31509484 31509484 single base substitution A T downstream_gene_variant PACA-CA 20 31509484 31509484 single base substitution A T intron_variant PACA-CA 20 31515133 31515133 single base substitution G A intron_variant PACA-CA 20 31522253 31522253 single base substitution G A downstream_gene_variant PACA-CA 20 31522253 31522253 single base substitution G A intragenic_variant PACA-CA 20 31525549 31525549 single base substitution C T intragenic_variant PACA-CA 20 31526709 31526709 single base substitution C G intragenic_variant PACA-CA 20 31528968 31528968 single base substitution G A intragenic_variant PACA-CA 20 31531322 31531322 single base substitution C T intragenic_variant PACA-CA 20 31531583 31531583 single base substitution G T intragenic_variant PACA-CA 20 31532316 31532316 single base substitution A T intragenic_variant PACA-CA 20 31539943 31539943 single base substitution T C intragenic_variant PACA-CA 20 31541309 31541309 insertion of <=200bp - T intragenic_variant PACA-CA 20 31543179 31543179 single base substitution C G intragenic_variant PACA-CA 20 31543179 31543179 single base substitution C G upstream_gene_variant PACA-CA 20 31545776 31545776 single base substitution A G intragenic_variant PACA-CA 20 31545776 31545776 single base substitution A G upstream_gene_variant PACA-CA 20 31549467 31549467 single base substitution G A downstream_gene_variant PACA-CA 20 31549963 31549963 single base substitution C T downstream_gene_variant PACA-CA 20 31550284 31550284 single base substitution C T downstream_gene_variant PACA-CA 20 31551594 31551594 insertion of <=200bp - T downstream_gene_variant PAEN-AU 20 31451376 31451376 single base substitution C T intron_variant PAEN-AU 20 31453329 31453329 single base substitution C T intron_variant PAEN-AU 20 31470566 31470566 single base substitution A G intron_variant PAEN-AU 20 31484615 31484618 deletion of <=200bp ACTT - intron_variant PAEN-AU 20 31484615 31484618 deletion of <=200bp ACTT - upstream_gene_variant PAEN-AU 20 31496629 31496629 single base substitution G A downstream_gene_variant PAEN-AU 20 31496629 31496629 single base substitution G A intragenic_variant PAEN-AU 20 31496629 31496629 single base substitution G A upstream_gene_variant PAEN-AU 20 31517546 31517546 single base substitution C G intron_variant PAEN-AU 20 31522305 31522305 single base substitution A G downstream_gene_variant PAEN-AU 20 31522305 31522305 single base substitution A G intragenic_variant PAEN-AU 20 31526917 31526917 single base substitution T C intragenic_variant PAEN-AU 20 31531172 31531172 single base substitution A T intragenic_variant PAEN-AU 20 31537364 31537364 single base substitution A G intragenic_variant PBCA-DE 20 31442493 31442493 insertion of <=200bp - TA upstream_gene_variant PBCA-DE 20 31448300 31448313 deletion of <=200bp TTTTTTTTTTTTTT - intron_variant PBCA-DE 20 31448300 31448314 deletion of <=200bp TTTTTTTTTTTTTTT - intron_variant PBCA-DE 20 31451822 31451822 single base substitution G A intron_variant PBCA-DE 20 31452060 31452060 single base substitution C T intron_variant PBCA-DE 20 31487071 31487071 single base substitution C T intron_variant PBCA-DE 20 31507747 31507747 single base substitution G A intron_variant PBCA-DE 20 31512626 31512627 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 20 31512626 31512627 deletion of <=200bp TG - intron_variant PBCA-DE 20 31513028 31513028 single base substitution T A intron_variant PBCA-DE 20 31518898 31518898 single base substitution A T intron_variant PBCA-DE 20 31520049 31520049 single base substitution G A downstream_gene_variant PBCA-DE 20 31520049 31520049 single base substitution G A intragenic_variant PBCA-DE 20 31526949 31526949 insertion of <=200bp - CC intragenic_variant PBCA-DE 20 31532476 31532476 single base substitution C T intragenic_variant PBCA-DE 20 31534609 31534609 deletion of <=200bp C - intragenic_variant PBCA-DE 20 31551782 31551782 single base substitution C T downstream_gene_variant PRAD-CA 20 31455093 31455093 single base substitution T C intron_variant PRAD-CA 20 31475472 31475472 single base substitution C T intron_variant PRAD-CA 20 31475521 31475521 single base substitution C T intron_variant PRAD-CA 20 31488534 31488534 single base substitution G A intron_variant PRAD-CA 20 31493420 31493420 single base substitution G A downstream_gene_variant PRAD-CA 20 31493420 31493420 single base substitution G A intron_variant PRAD-CA 20 31512765 31512765 single base substitution G A downstream_gene_variant PRAD-CA 20 31512765 31512765 single base substitution G A intron_variant PRAD-CA 20 31541741 31541741 single base substitution C T intragenic_variant PRAD-CA 20 31550504 31550504 single base substitution G A downstream_gene_variant PRAD-CA 20 31551353 31551353 single base substitution G A downstream_gene_variant PRAD-UK 20 31448200 31448200 insertion of <=200bp - T intron_variant PRAD-UK 20 31462199 31462199 insertion of <=200bp - A intron_variant PRAD-UK 20 31464888 31464888 single base substitution G A intron_variant PRAD-UK 20 31470452 31470452 single base substitution G T intron_variant PRAD-UK 20 31493384 31493384 single base substitution G T downstream_gene_variant PRAD-UK 20 31493384 31493384 single base substitution G T intron_variant PRAD-UK 20 31496310 31496310 single base substitution C T downstream_gene_variant PRAD-UK 20 31496310 31496310 single base substitution C T intragenic_variant PRAD-UK 20 31496310 31496310 single base substitution C T upstream_gene_variant PRAD-UK 20 31500928 31500928 single base substitution T G intron_variant PRAD-UK 20 31500928 31500928 single base substitution T G upstream_gene_variant PRAD-UK 20 31507604 31507604 single base substitution C A intron_variant PRAD-UK 20 31518321 31518321 single base substitution T A missense_variant F267I 799T>A PRAD-UK 20 31522149 31522149 single base substitution C T downstream_gene_variant PRAD-UK 20 31522149 31522149 single base substitution C T intragenic_variant PRAD-UK 20 31540854 31540854 single base substitution C T intragenic_variant PRAD-UK 20 31543969 31543969 single base substitution G A intragenic_variant PRAD-UK 20 31543969 31543969 single base substitution G A upstream_gene_variant PRAD-UK 20 31545273 31545273 single base substitution G C intragenic_variant PRAD-UK 20 31545273 31545273 single base substitution G C upstream_gene_variant PRAD-UK 20 31545434 31545434 single base substitution G A intragenic_variant PRAD-UK 20 31545434 31545434 single base substitution G A upstream_gene_variant PRAD-UK 20 31545451 31545451 single base substitution G C intragenic_variant PRAD-UK 20 31545451 31545451 single base substitution G C upstream_gene_variant PRAD-UK 20 31545504 31545504 single base substitution G C intragenic_variant PRAD-UK 20 31545504 31545504 single base substitution G C upstream_gene_variant PRAD-UK 20 31545571 31545571 single base substitution G A intragenic_variant PRAD-UK 20 31545571 31545571 single base substitution G A upstream_gene_variant PRAD-UK 20 31545578 31545578 single base substitution G A intragenic_variant PRAD-UK 20 31545578 31545578 single base substitution G A upstream_gene_variant PRAD-UK 20 31545629 31545629 single base substitution G C intragenic_variant PRAD-UK 20 31545629 31545629 single base substitution G C upstream_gene_variant PRAD-UK 20 31545873 31545873 single base substitution G C intragenic_variant PRAD-UK 20 31545873 31545873 single base substitution G C upstream_gene_variant PRAD-UK 20 31546271 31546271 single base substitution G C intragenic_variant PRAD-UK 20 31546271 31546271 single base substitution G C upstream_gene_variant PRAD-UK 20 31546307 31546307 single base substitution G C intragenic_variant PRAD-UK 20 31546307 31546307 single base substitution G C upstream_gene_variant PRAD-UK 20 31550830 31550830 single base substitution C T downstream_gene_variant RECA-EU 20 31453770 31453770 single base substitution G T intron_variant RECA-EU 20 31457063 31457063 single base substitution G A intron_variant RECA-EU 20 31461917 31461917 single base substitution C G intron_variant RECA-EU 20 31464260 31464260 single base substitution T C intron_variant RECA-EU 20 31464261 31464261 single base substitution C A intron_variant RECA-EU 20 31469873 31469873 single base substitution A T intron_variant RECA-EU 20 31470077 31470077 single base substitution C A intron_variant RECA-EU 20 31473456 31473456 single base substitution G A intron_variant RECA-EU 20 31504596 31504596 single base substitution G A intron_variant RECA-EU 20 31504596 31504596 single base substitution G A upstream_gene_variant RECA-EU 20 31507005 31507005 single base substitution T A intron_variant RECA-EU 20 31523167 31523167 single base substitution C T downstream_gene_variant RECA-EU 20 31523167 31523167 single base substitution C T intragenic_variant RECA-EU 20 31528227 31528227 single base substitution C A intragenic_variant RECA-EU 20 31537855 31537855 single base substitution A T intragenic_variant RECA-EU 20 31547637 31547637 single base substitution C T intragenic_variant RECA-EU 20 31547637 31547637 single base substitution C T upstream_gene_variant RECA-EU 20 31552055 31552055 single base substitution C T downstream_gene_variant SKCA-BR 20 31442823 31442823 single base substitution A G upstream_gene_variant SKCA-BR 20 31444648 31444648 single base substitution C T upstream_gene_variant SKCA-BR 20 31446645 31446645 single base substitution A G upstream_gene_variant SKCA-BR 20 31447510 31447510 single base substitution A T intron_variant SKCA-BR 20 31448299 31448313 deletion of <=200bp CTTTTTTTTTTTTTT - intron_variant SKCA-BR 20 31453197 31453197 single base substitution T G intron_variant SKCA-BR 20 31453600 31453600 insertion of <=200bp - CA intron_variant SKCA-BR 20 31454126 31454126 single base substitution C T intron_variant SKCA-BR 20 31459111 31459111 single base substitution C T intron_variant SKCA-BR 20 31460695 31460695 single base substitution C T intron_variant SKCA-BR 20 31461025 31461025 single base substitution T G intron_variant SKCA-BR 20 31461082 31461082 single base substitution T C intron_variant SKCA-BR 20 31461342 31461342 single base substitution G A intron_variant SKCA-BR 20 31461615 31461615 insertion of <=200bp - CA intron_variant SKCA-BR 20 31463460 31463460 single base substitution A G intron_variant SKCA-BR 20 31465450 31465450 single base substitution T C intron_variant SKCA-BR 20 31466416 31466416 single base substitution C G intron_variant SKCA-BR 20 31468078 31468078 insertion of <=200bp - CT intron_variant SKCA-BR 20 31469524 31469524 single base substitution C T intron_variant SKCA-BR 20 31469531 31469531 single base substitution C T intron_variant SKCA-BR 20 31469992 31469992 single base substitution G A intron_variant SKCA-BR 20 31470957 31470957 single base substitution G A intron_variant SKCA-BR 20 31472249 31472249 single base substitution T G intron_variant SKCA-BR 20 31472651 31472651 single base substitution A G intron_variant SKCA-BR 20 31474359 31474359 single base substitution G A intron_variant SKCA-BR 20 31476222 31476222 single base substitution G A intron_variant SKCA-BR 20 31476359 31476359 single base substitution C T intron_variant SKCA-BR 20 31477530 31477530 single base substitution G T intron_variant SKCA-BR 20 31477533 31477533 single base substitution T C intron_variant SKCA-BR 20 31477600 31477600 single base substitution G A intron_variant SKCA-BR 20 31477755 31477755 single base substitution T C intron_variant SKCA-BR 20 31478500 31478500 single base substitution T G intron_variant SKCA-BR 20 31479633 31479634 deletion of <=200bp GT - intron_variant SKCA-BR 20 31480413 31480413 single base substitution T G intron_variant SKCA-BR 20 31482141 31482141 single base substitution C T intron_variant SKCA-BR 20 31482141 31482141 single base substitution C T upstream_gene_variant SKCA-BR 20 31483330 31483330 single base substitution A G intron_variant SKCA-BR 20 31483330 31483330 single base substitution A G upstream_gene_variant SKCA-BR 20 31484553 31484553 single base substitution C T intron_variant SKCA-BR 20 31484553 31484553 single base substitution C T upstream_gene_variant SKCA-BR 20 31485803 31485803 single base substitution C T intron_variant SKCA-BR 20 31485803 31485803 single base substitution C T upstream_gene_variant SKCA-BR 20 31485858 31485858 single base substitution A G intron_variant SKCA-BR 20 31485858 31485858 single base substitution A G upstream_gene_variant SKCA-BR 20 31487035 31487035 insertion of <=200bp - CAAT intron_variant SKCA-BR 20 31491556 31491556 single base substitution G A downstream_gene_variant SKCA-BR 20 31491556 31491556 single base substitution G A intron_variant SKCA-BR 20 31491749 31491749 single base substitution G A downstream_gene_variant SKCA-BR 20 31491749 31491749 single base substitution G A intron_variant SKCA-BR 20 31492401 31492401 single base substitution G A downstream_gene_variant SKCA-BR 20 31492401 31492401 single base substitution G A intron_variant SKCA-BR 20 31496903 31496903 single base substitution C T downstream_gene_variant SKCA-BR 20 31496903 31496903 single base substitution C T intragenic_variant SKCA-BR 20 31496903 31496903 single base substitution C T upstream_gene_variant SKCA-BR 20 31500251 31500252 deletion of <=200bp AG - intron_variant SKCA-BR 20 31500251 31500252 deletion of <=200bp AG - upstream_gene_variant SKCA-BR 20 31504217 31504217 single base substitution C A intron_variant SKCA-BR 20 31504217 31504217 single base substitution C A upstream_gene_variant SKCA-BR 20 31504759 31504759 single base substitution C T intron_variant SKCA-BR 20 31504759 31504759 single base substitution C T upstream_gene_variant SKCA-BR 20 31505705 31505705 single base substitution C T intron_variant SKCA-BR 20 31505960 31505960 single base substitution G C intron_variant SKCA-BR 20 31506498 31506498 single base substitution C T intron_variant SKCA-BR 20 31507298 31507298 single base substitution C T intron_variant SKCA-BR 20 31507655 31507655 single base substitution C T intron_variant SKCA-BR 20 31508492 31508492 single base substitution C T downstream_gene_variant SKCA-BR 20 31508492 31508492 single base substitution C T intron_variant SKCA-BR 20 31508618 31508618 single base substitution C T downstream_gene_variant SKCA-BR 20 31508618 31508618 single base substitution C T intron_variant SKCA-BR 20 31508785 31508785 single base substitution C T downstream_gene_variant SKCA-BR 20 31508785 31508785 single base substitution C T intron_variant SKCA-BR 20 31510449 31510449 single base substitution G A downstream_gene_variant SKCA-BR 20 31510449 31510449 single base substitution G A intron_variant SKCA-BR 20 31510606 31510606 single base substitution C T downstream_gene_variant SKCA-BR 20 31510606 31510606 single base substitution C T intron_variant SKCA-BR 20 31511175 31511175 single base substitution C T downstream_gene_variant SKCA-BR 20 31511175 31511175 single base substitution C T intron_variant SKCA-BR 20 31511369 31511369 single base substitution C T downstream_gene_variant SKCA-BR 20 31511369 31511369 single base substitution C T intron_variant SKCA-BR 20 31512447 31512447 single base substitution G A downstream_gene_variant SKCA-BR 20 31512447 31512447 single base substitution G A intron_variant SKCA-BR 20 31512615 31512615 single base substitution G A downstream_gene_variant SKCA-BR 20 31512615 31512615 single base substitution G A intron_variant SKCA-BR 20 31512718 31512718 single base substitution G A downstream_gene_variant SKCA-BR 20 31512718 31512718 single base substitution G A intron_variant SKCA-BR 20 31513730 31513730 single base substitution G A intron_variant SKCA-BR 20 31514326 31514326 insertion of <=200bp - TTA intron_variant SKCA-BR 20 31515604 31515604 single base substitution G A intron_variant SKCA-BR 20 31516304 31516304 single base substitution G A intron_variant SKCA-BR 20 31517546 31517546 single base substitution C T intron_variant SKCA-BR 20 31519518 31519518 single base substitution C T downstream_gene_variant SKCA-BR 20 31519518 31519518 single base substitution C T intragenic_variant SKCA-BR 20 31519914 31519914 single base substitution G A downstream_gene_variant SKCA-BR 20 31519914 31519914 single base substitution G A intragenic_variant SKCA-BR 20 31519996 31519996 single base substitution C T downstream_gene_variant SKCA-BR 20 31519996 31519996 single base substitution C T intragenic_variant SKCA-BR 20 31520077 31520077 single base substitution G A downstream_gene_variant SKCA-BR 20 31520077 31520077 single base substitution G A intragenic_variant SKCA-BR 20 31521525 31521525 single base substitution C T downstream_gene_variant SKCA-BR 20 31521525 31521525 single base substitution C T intragenic_variant SKCA-BR 20 31522302 31522302 single base substitution C T downstream_gene_variant SKCA-BR 20 31522302 31522302 single base substitution C T intragenic_variant SKCA-BR 20 31522758 31522758 single base substitution A C downstream_gene_variant SKCA-BR 20 31522758 31522758 single base substitution A C intragenic_variant SKCA-BR 20 31524185 31524185 single base substitution A G intragenic_variant SKCA-BR 20 31524276 31524276 single base substitution C T intragenic_variant SKCA-BR 20 31524536 31524536 single base substitution G A intragenic_variant SKCA-BR 20 31526197 31526197 single base substitution G A intragenic_variant SKCA-BR 20 31526923 31526923 single base substitution C T intragenic_variant SKCA-BR 20 31526931 31526967 deletion of <=200bp CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT - intragenic_variant SKCA-BR 20 31527001 31527021 deletion of <=200bp CTTTCTTTCCTCTCTCTCTCT - intragenic_variant SKCA-BR 20 31527721 31527721 single base substitution G A intragenic_variant SKCA-BR 20 31527805 31527805 insertion of <=200bp - GCCTCCCTC intragenic_variant SKCA-BR 20 31527855 31527855 single base substitution C T intragenic_variant SKCA-BR 20 31528555 31528555 single base substitution G A intragenic_variant SKCA-BR 20 31528928 31528928 single base substitution G A intragenic_variant SKCA-BR 20 31529787 31529787 single base substitution G A intragenic_variant SKCA-BR 20 31533548 31533548 single base substitution G A intragenic_variant SKCA-BR 20 31533608 31533608 single base substitution G A intragenic_variant SKCA-BR 20 31534323 31534323 single base substitution C T intragenic_variant SKCA-BR 20 31535365 31535365 single base substitution C T intragenic_variant SKCA-BR 20 31535434 31535434 single base substitution G A intragenic_variant SKCA-BR 20 31536270 31536270 single base substitution C T intragenic_variant SKCA-BR 20 31541726 31541726 single base substitution C T intragenic_variant SKCA-BR 20 31542064 31542064 single base substitution T C intragenic_variant SKCA-BR 20 31542618 31542618 single base substitution C T intragenic_variant SKCA-BR 20 31544149 31544149 single base substitution C T intragenic_variant SKCA-BR 20 31544149 31544149 single base substitution C T upstream_gene_variant SKCA-BR 20 31546409 31546409 single base substitution T G intragenic_variant SKCA-BR 20 31546409 31546409 single base substitution T G upstream_gene_variant SKCA-BR 20 31548236 31548236 single base substitution G A intron_variant SKCA-BR 20 31549886 31549886 single base substitution C T downstream_gene_variant SKCA-BR 20 31551609 31551614 deletion of <=200bp CTTTCT - downstream_gene_variant SKCA-BR 20 31551805 31551805 single base substitution C T downstream_gene_variant SKCA-BR 20 31551823 31551823 single base substitution T C downstream_gene_variant SKCA-BR 20 31552195 31552195 single base substitution A T downstream_gene_variant UCEC-US 20 31455519 31455519 single base substitution G T missense_variant E58D 174G>T UCEC-US 20 31455551 31455551 single base substitution G A missense_variant G69E 206G>A UCEC-US 20 31480052 31480052 single base substitution G A missense_variant R236Q 707G>A UCEC-US 20 31481016 31481016 single base substitution C T synonymous_variant D265D 795C>T UCEC-US 20 31481047 31481047 single base substitution G A missense_variant E276K 826G>A UCEC-US 20 31481057 31481057 single base substitution C T missense_variant T279I 836C>T UCEC-US 20 31486376 31486376 single base substitution G T exon_variant UCEC-US 20 31486376 31486376 single base substitution G T missense_variant E345D 1035G>T UCEC-US 20 31496183 31496183 single base substitution G A downstream_gene_variant UCEC-US 20 31496183 31496183 single base substitution G A intragenic_variant UCEC-US 20 31496183 31496183 single base substitution G A upstream_gene_variant UCEC-US 20 31500622 31500622 single base substitution A C missense_variant N26T 77A>C UCEC-US 20 31500622 31500622 single base substitution A C upstream_gene_variant UCEC-US 20 31505149 31505149 single base substitution G T exon_variant UCEC-US 20 31505149 31505149 single base substitution G T missense_variant Q56H 168G>T UCEC-US 20 31505293 31505293 single base substitution G A exon_variant UCEC-US 20 31505293 31505293 single base substitution G A synonymous_variant S104S 312G>A UCEC-US 20 31506195 31506195 single base substitution G A exon_variant UCEC-US 20 31506195 31506195 single base substitution G A missense_variant E120K 358G>A UCEC-US 20 31506228 31506228 single base substitution C T exon_variant UCEC-US 20 31506228 31506228 single base substitution C T missense_variant R131W 391C>T UCEC-US 20 31507959 31507959 single base substitution G T exon_variant UCEC-US 20 31507959 31507959 single base substitution G T stop_gained E207* 619G>T UCEC-US 20 31507985 31507985 single base substitution G T exon_variant UCEC-US 20 31507985 31507985 single base substitution G T missense_variant K215N 645G>T UCEC-US 20 31531480 31531480 single base substitution G A intragenic_variant UCEC-US 20 31548941 31548941 single base substitution G A splice_acceptor_variant UCEC-US 20 31549373 31549373 single base substitution C A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand BN22T COSM3707706 c.796G>A p.A266T Substitution - Missense 20:32893211-32893211 + AOCS-112-1-2 COSM4136824 c.1052T>C p.L351P Substitution - Missense 20:32898587-32898587 + HCC2998 COSM1592538 c.826G>A p.E276K Substitution - Missense 20:32893241-32893241 + PT25 COSM5905124 c.328-8C>T p.? Unknown 20:32878696-32878696 + pfg129T COSM4752128 c.643G>A p.V215I Substitution - Missense 20:32889376-32889376 + 587376 COSM1204977 c.909G>T p.Q303H Substitution - Missense 20:32896479-32896479 + SNU-C2B COSM2889731 c.599C>T p.P200L Substitution - Missense 20:32889332-32889332 + 587376 COSM1204975 c.632A>C p.N211T Substitution - Missense 20:32889365-32889365 + pfg416T COSM4752131 c.1183C>T p.R395C Substitution - Missense 20:32906869-32906869 + SS6003324 COSM3414146 c.600G>A p.P200P Substitution - coding silent 20:32889333-32889333 + T25 COSM1592538 c.826G>A p.E276K Substitution - Missense 20:32893241-32893241 + TCGA-BS-A0TC-01 COSM1592536 c.1035G>T p.E345D Substitution - Missense 20:32898570-32898570 + sysucc-311T COSM5464896 c.380G>A p.R127Q Substitution - Missense 20:32878756-32878756 + PCSI_0192_Pa_P COSM2889716 c.476G>A p.R159Q Substitution - Missense 20:32885549-32885549 + TCGA-B5-A0JY-01 COSM1592542 c.206G>A p.G69E Substitution - Missense 20:32867745-32867745 + KPOPBR-29-T COSM5964785 c.420G>A p.T140T Substitution - coding silent 20:32878796-32878796 + TCGA-D1-A17Q-01 COSM1025822 c.174G>T p.E58D Substitution - Missense 20:32867713-32867713 + PD4912a COSM1636746 c.549G>A p.S183S Substitution - coding silent 20:32885622-32885622 + HT115 COSM2889655 c.5C>A p.S2Y Substitution - Missense 20:32863797-32863797 + SJBALL021305_D1 COSM4994511 c.43-8C>T p.? Unknown 20:32867574-32867574 + BN22 COSM3707706 c.796G>A p.A266T Substitution - Missense 20:32893211-32893211 + PTC-10C COSM4134448 c.352C>T p.R118C Substitution - Missense 20:32878728-32878728 + TCGA-D8-A27V-01 COSM3840750 c.816C>T p.V272V Substitution - coding silent 20:32893231-32893231 + HCC119T COSM1615461 c.292A>T p.K98* Substitution - Nonsense 20:32876009-32876009 + HT115 COSM2889759 c.1111A>G p.K371E Substitution - Missense 20:32906584-32906584 + C0002T COSM4164676 c.567+10G>A p.? Unknown 20:32885650-32885650 + TCGA-AX-A0J0-01 COSM1592538 c.826G>A p.E276K Substitution - Missense 20:32893241-32893241 + 2521244 COSM5887516 c.834G>T p.M278I Substitution - Missense 20:32893249-32893249 + TCGA-D1-A0ZP-01 COSM1153906 c.836C>T p.T279I Substitution - Missense 20:32893251-32893251 + SNU-175 COSM2889737 c.653C>T p.A218V Substitution - Missense 20:32889386-32889386 + 2493722 COSM5731573 c.803G>A p.G268D Substitution - Missense 20:32893218-32893218 + PTC-28C COSM4134451 c.1169A>T p.Y390F Substitution - Missense 20:32906855-32906855 + SS6003323 COSM3414146 c.600G>A p.P200P Substitution - coding silent 20:32889333-32889333 + T1 COSM5343576 c.1184G>A p.R395H Substitution - Missense 20:32906870-32906870 + SNUH_G45_S1 COSM4001873 c.1103G>A p.R368H Substitution - Missense 20:32906576-32906576 + 8031656 COSM1168949 c.961C>T p.L321F Substitution - Missense 20:32898496-32898496 + TCGA-D1-A17D-01 COSM1153904 c.707G>A p.R236Q Substitution - Missense 20:32892246-32892246 + HT115 COSM2889667 c.192C>T p.D64D Substitution - coding silent 20:32867731-32867731 + HCC119 COSM1615461 c.292A>T p.K98* Substitution - Nonsense 20:32876009-32876009 + TCGA-B5-A11J-01 COSM1592540 c.795C>T p.D265D Substitution - coding silent 20:32893210-32893210 + sysucc-1370T COSM4001873 c.1103G>A p.R368H Substitution - Missense 20:32906576-32906576 + PT37 COSM5921681 c.47C>T p.S16F Substitution - Missense 20:32867586-32867586 + sysucc-311T COSM3414146 c.600G>A p.P200P Substitution - coding silent 20:32889333-32889333 +

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C T IntronicSNV . c.208+2408C>T 20 31457961 CLL