Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 43637728 43637728 single base substitution C T upstream_gene_variant BLCA-US 1 43636436 43636436 single base substitution C T upstream_gene_variant BLCA-US 1 43637293 43637293 single base substitution G A upstream_gene_variant BLCA-US 1 43675708 43675708 single base substitution C T intron_variant BLCA-US 1 43675708 43675708 single base substitution C T missense_variant H684Y 2050C>T BRCA-EU 1 43633007 43633007 single base substitution G A upstream_gene_variant BRCA-EU 1 43633516 43633516 single base substitution C T upstream_gene_variant BRCA-EU 1 43635118 43635118 single base substitution G A upstream_gene_variant BRCA-EU 1 43635253 43635253 single base substitution A G upstream_gene_variant BRCA-EU 1 43636639 43636639 single base substitution G A upstream_gene_variant BRCA-EU 1 43636964 43636964 single base substitution G C upstream_gene_variant BRCA-EU 1 43642156 43642156 single base substitution T C intron_variant BRCA-EU 1 43642173 43642173 single base substitution C A intron_variant BRCA-EU 1 43644900 43644900 single base substitution C T intron_variant BRCA-EU 1 43645618 43645618 single base substitution C A intron_variant BRCA-EU 1 43645618 43645618 single base substitution C A upstream_gene_variant BRCA-EU 1 43646330 43646330 single base substitution C G intron_variant BRCA-EU 1 43646330 43646330 single base substitution C G upstream_gene_variant BRCA-EU 1 43646811 43646811 single base substitution C G intron_variant BRCA-EU 1 43646811 43646811 single base substitution C G upstream_gene_variant BRCA-EU 1 43649131 43649131 single base substitution G C downstream_gene_variant BRCA-EU 1 43649131 43649131 single base substitution G C intron_variant BRCA-EU 1 43649131 43649131 single base substitution G C upstream_gene_variant BRCA-EU 1 43650412 43650429 deletion of <=200bp TTTTTTTTTTTTTTTTTT - downstream_gene_variant BRCA-EU 1 43650412 43650429 deletion of <=200bp TTTTTTTTTTTTTTTTTT - intron_variant BRCA-EU 1 43650412 43650429 deletion of <=200bp TTTTTTTTTTTTTTTTTT - upstream_gene_variant BRCA-EU 1 43650599 43650599 single base substitution T A downstream_gene_variant BRCA-EU 1 43650599 43650599 single base substitution T A exon_variant BRCA-EU 1 43650599 43650599 single base substitution T A intron_variant BRCA-EU 1 43650891 43650891 single base substitution G T 3_prime_UTR_variant BRCA-EU 1 43650891 43650891 single base substitution G T downstream_gene_variant BRCA-EU 1 43650891 43650891 single base substitution G T exon_variant BRCA-EU 1 43650891 43650891 single base substitution G T missense_variant S278I 833G>T BRCA-EU 1 43650966 43650966 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 43650966 43650966 single base substitution G C downstream_gene_variant BRCA-EU 1 43650966 43650966 single base substitution G C exon_variant BRCA-EU 1 43650966 43650966 single base substitution G C missense_variant R303T 908G>C BRCA-EU 1 43651516 43651516 single base substitution G C downstream_gene_variant BRCA-EU 1 43651516 43651516 single base substitution G C intron_variant BRCA-EU 1 43651906 43651906 single base substitution C T downstream_gene_variant BRCA-EU 1 43651906 43651906 single base substitution C T intron_variant BRCA-EU 1 43654011 43654011 single base substitution T C downstream_gene_variant BRCA-EU 1 43654011 43654011 single base substitution T C intron_variant BRCA-EU 1 43654137 43654137 single base substitution G C downstream_gene_variant BRCA-EU 1 43654137 43654137 single base substitution G C intron_variant BRCA-EU 1 43656289 43656289 single base substitution G A downstream_gene_variant BRCA-EU 1 43656289 43656289 single base substitution G A intron_variant BRCA-EU 1 43658391 43658391 single base substitution G A intron_variant BRCA-EU 1 43659236 43659236 single base substitution A T intron_variant BRCA-EU 1 43659684 43659684 single base substitution G C intron_variant BRCA-EU 1 43661070 43661070 single base substitution G C intron_variant BRCA-EU 1 43662901 43662901 single base substitution G A intron_variant BRCA-EU 1 43663718 43663718 single base substitution C G intron_variant BRCA-EU 1 43664521 43664521 single base substitution C G intron_variant BRCA-EU 1 43667499 43667499 single base substitution T C intron_variant BRCA-EU 1 43667805 43667805 single base substitution T C intron_variant BRCA-EU 1 43668567 43668567 single base substitution G A intron_variant BRCA-EU 1 43668637 43668637 single base substitution G C intron_variant BRCA-EU 1 43669355 43669355 single base substitution C G intron_variant BRCA-EU 1 43669755 43669755 single base substitution C A intron_variant BRCA-EU 1 43670920 43670925 deletion of <=200bp CACCAA - intron_variant BRCA-EU 1 43673611 43673611 single base substitution A G intron_variant BRCA-EU 1 43674861 43674861 single base substitution C G intron_variant BRCA-EU 1 43675497 43675497 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 43675497 43675497 single base substitution C T synonymous_variant T613T 1839C>T BRCA-EU 1 43675521 43675521 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 43675521 43675521 single base substitution G A missense_variant M621I 1863G>A BRCA-EU 1 43675708 43675708 single base substitution C G intron_variant BRCA-EU 1 43675708 43675708 single base substitution C G missense_variant H684D 2050C>G BRCA-EU 1 43676840 43676840 single base substitution G A downstream_gene_variant BRCA-EU 1 43676840 43676840 single base substitution G A intron_variant BRCA-EU 1 43676840 43676840 single base substitution G A upstream_gene_variant BRCA-EU 1 43677223 43677223 single base substitution G A downstream_gene_variant BRCA-EU 1 43677223 43677223 single base substitution G A intron_variant BRCA-EU 1 43677223 43677223 single base substitution G A upstream_gene_variant BRCA-EU 1 43678092 43678092 single base substitution C T downstream_gene_variant BRCA-EU 1 43678092 43678092 single base substitution C T intron_variant BRCA-EU 1 43678092 43678092 single base substitution C T upstream_gene_variant BRCA-EU 1 43679963 43679963 single base substitution T A downstream_gene_variant BRCA-EU 1 43679963 43679963 single base substitution T A intron_variant BRCA-EU 1 43679963 43679963 single base substitution T A upstream_gene_variant BRCA-EU 1 43681105 43681105 single base substitution T C downstream_gene_variant BRCA-EU 1 43681105 43681105 single base substitution T C intron_variant BRCA-EU 1 43681223 43681223 single base substitution C T downstream_gene_variant BRCA-EU 1 43681223 43681223 single base substitution C T intron_variant BRCA-EU 1 43682295 43682295 single base substitution C G intron_variant BRCA-EU 1 43685500 43685500 single base substitution C T intron_variant BRCA-EU 1 43688781 43688781 single base substitution C G downstream_gene_variant BRCA-EU 1 43688781 43688781 single base substitution C G intron_variant BRCA-EU 1 43688906 43688906 single base substitution G T downstream_gene_variant BRCA-EU 1 43688906 43688906 single base substitution G T intron_variant BRCA-EU 1 43693105 43693105 single base substitution T G intron_variant BRCA-EU 1 43693706 43693706 single base substitution C T intron_variant BRCA-EU 1 43693708 43693708 single base substitution C T intron_variant BRCA-EU 1 43693881 43693881 single base substitution T A intron_variant BRCA-EU 1 43694326 43694326 single base substitution G A intron_variant BRCA-EU 1 43695018 43695018 single base substitution G C intron_variant BRCA-EU 1 43695825 43695825 single base substitution A G intron_variant BRCA-EU 1 43699789 43699789 single base substitution C A intron_variant BRCA-EU 1 43701971 43701971 single base substitution C G intron_variant BRCA-EU 1 43703320 43703320 single base substitution A T intron_variant BRCA-EU 1 43703929 43703929 single base substitution C A intron_variant BRCA-EU 1 43705816 43705816 single base substitution A G intron_variant BRCA-EU 1 43706841 43706841 single base substitution G C intron_variant BRCA-EU 1 43708218 43708218 single base substitution T C intron_variant BRCA-EU 1 43708614 43708614 single base substitution C G intron_variant BRCA-EU 1 43709889 43709889 single base substitution C T intron_variant BRCA-EU 1 43709998 43709998 single base substitution C T intron_variant BRCA-EU 1 43711667 43711667 single base substitution T G intron_variant BRCA-EU 1 43711841 43711841 single base substitution A G intron_variant BRCA-EU 1 43712011 43712011 single base substitution G T intron_variant BRCA-EU 1 43714795 43714795 single base substitution G A intron_variant BRCA-EU 1 43716079 43716079 single base substitution G A intron_variant BRCA-EU 1 43717092 43717092 single base substitution C T intron_variant BRCA-EU 1 43717569 43717569 single base substitution A G intron_variant BRCA-EU 1 43718061 43718061 single base substitution C T intron_variant BRCA-EU 1 43719240 43719240 single base substitution A T intron_variant BRCA-EU 1 43720507 43720507 single base substitution C G downstream_gene_variant BRCA-EU 1 43724002 43724002 single base substitution G T downstream_gene_variant BRCA-EU 1 43724557 43724557 single base substitution C A downstream_gene_variant BRCA-FR 1 43643967 43643967 single base substitution A T intron_variant BRCA-FR 1 43651505 43651505 single base substitution C T downstream_gene_variant BRCA-FR 1 43651505 43651505 single base substitution C T intron_variant BRCA-FR 1 43655270 43655270 single base substitution A G downstream_gene_variant BRCA-FR 1 43655270 43655270 single base substitution A G intron_variant BRCA-FR 1 43691025 43691025 single base substitution G A downstream_gene_variant BRCA-FR 1 43691025 43691025 single base substitution G A intron_variant BRCA-FR 1 43703929 43703929 single base substitution C A intron_variant BRCA-FR 1 43705236 43705236 single base substitution G A intron_variant BRCA-FR 1 43711841 43711841 single base substitution A G intron_variant BRCA-FR 1 43712011 43712011 single base substitution G T intron_variant BRCA-FR 1 43717092 43717092 single base substitution C T intron_variant BRCA-KR 1 43652296 43652296 single base substitution A G downstream_gene_variant BRCA-KR 1 43652296 43652296 single base substitution A G intron_variant BRCA-UK 1 43650599 43650599 single base substitution T A downstream_gene_variant BRCA-UK 1 43650599 43650599 single base substitution T A exon_variant BRCA-UK 1 43650599 43650599 single base substitution T A intron_variant BRCA-US 1 43632905 43632905 single base substitution A C upstream_gene_variant BRCA-US 1 43649466 43649466 single base substitution G T 3_prime_UTR_variant BRCA-US 1 43649466 43649466 single base substitution G T downstream_gene_variant BRCA-US 1 43649466 43649466 single base substitution G T missense_variant D227Y 679G>T BRCA-US 1 43649466 43649466 single base substitution G T upstream_gene_variant BRCA-US 1 43672428 43672428 single base substitution T C 3_prime_UTR_variant BRCA-US 1 43672428 43672428 single base substitution T C missense_variant L527P 1580T>C BRCA-US 1 43675624 43675624 single base substitution A C intron_variant BRCA-US 1 43675624 43675624 single base substitution A C missense_variant T656P 1966A>C BRCA-US 1 43675636 43675636 single base substitution C A intron_variant BRCA-US 1 43675636 43675636 single base substitution C A missense_variant R660S 1978C>A BTCA-JP 1 43688613 43688613 single base substitution A C downstream_gene_variant BTCA-JP 1 43688613 43688613 single base substitution A C missense_variant D884A 2651A>C BTCA-JP 1 43689837 43689837 single base substitution C T downstream_gene_variant BTCA-JP 1 43689837 43689837 single base substitution C T stop_gained R943* 2827C>T BTCA-JP 1 43697977 43697977 single base substitution G T intron_variant BTCA-JP 1 43719564 43719564 single base substitution G C intron_variant BTCA-JP 1 43719747 43719747 single base substitution G A missense_variant R1213H 3638G>A CESC-US 1 43636553 43636553 single base substitution G C upstream_gene_variant CESC-US 1 43637890 43637890 single base substitution C T 5_prime_UTR_variant CESC-US 1 43637890 43637890 single base substitution C T upstream_gene_variant CESC-US 1 43638464 43638464 single base substitution C G exon_variant CESC-US 1 43638464 43638464 single base substitution C G missense_variant L14V 40C>G CESC-US 1 43647253 43647253 single base substitution G T 3_prime_UTR_variant CESC-US 1 43647253 43647253 single base substitution G T missense_variant R69L 206G>T CESC-US 1 43647253 43647253 single base substitution G T upstream_gene_variant CESC-US 1 43647299 43647299 single base substitution C T 3_prime_UTR_variant CESC-US 1 43647299 43647299 single base substitution C T synonymous_variant I84I 252C>T CESC-US 1 43647299 43647299 single base substitution C T upstream_gene_variant CESC-US 1 43650992 43650992 single base substitution G A 3_prime_UTR_variant CESC-US 1 43650992 43650992 single base substitution G A downstream_gene_variant CESC-US 1 43650992 43650992 single base substitution G A exon_variant CESC-US 1 43650992 43650992 single base substitution G A missense_variant E312K 934G>A CESC-US 1 43651019 43651019 single base substitution G C 3_prime_UTR_variant CESC-US 1 43651019 43651019 single base substitution G C downstream_gene_variant CESC-US 1 43651019 43651019 single base substitution G C exon_variant CESC-US 1 43651019 43651019 single base substitution G C missense_variant E321Q 961G>C CESC-US 1 43663242 43663242 single base substitution G A 3_prime_UTR_variant CESC-US 1 43663242 43663242 single base substitution G A missense_variant E381K 1141G>A CESC-US 1 43675438 43675438 single base substitution G C 3_prime_UTR_variant CESC-US 1 43675438 43675438 single base substitution G C missense_variant D594H 1780G>C CESC-US 1 43719755 43719755 single base substitution G A missense_variant D1216N 3646G>A CESC-US 1 43719782 43719782 single base substitution A G missense_variant T1225A 3673A>G CLLE-ES 1 43669926 43669926 single base substitution G A intron_variant CLLE-ES 1 43720514 43720514 single base substitution G T downstream_gene_variant COAD-US 1 43638071 43638071 single base substitution C T 5_prime_UTR_variant COAD-US 1 43638071 43638071 single base substitution C T splice_region_variant COAD-US 1 43638071 43638071 single base substitution C T upstream_gene_variant COAD-US 1 43638456 43638456 deletion of <=200bp T - exon_variant COAD-US 1 43638456 43638456 deletion of <=200bp T - frameshift_variant V11 COAD-US 1 43649508 43649508 single base substitution A G 3_prime_UTR_variant COAD-US 1 43649508 43649508 single base substitution A G downstream_gene_variant COAD-US 1 43649508 43649508 single base substitution A G missense_variant N241D 721A>G COAD-US 1 43649508 43649508 single base substitution A G upstream_gene_variant COAD-US 1 43664218 43664218 single base substitution C T 3_prime_UTR_variant COAD-US 1 43664218 43664218 single base substitution C T synonymous_variant H443H 1329C>T COAD-US 1 43664320 43664320 deletion of <=200bp A - splice_region_variant COAD-US 1 43675551 43675551 single base substitution C A 3_prime_UTR_variant COAD-US 1 43675551 43675551 single base substitution C A missense_variant F631L 1893C>A COAD-US 1 43675603 43675603 insertion of <=200bp - C frameshift_variant S649L? COAD-US 1 43675603 43675603 insertion of <=200bp - C intron_variant COAD-US 1 43687874 43687874 single base substitution C T 3_prime_UTR_variant COAD-US 1 43687874 43687874 single base substitution C T missense_variant R814W 2440C>T COAD-US 1 43688506 43688506 single base substitution C T downstream_gene_variant COAD-US 1 43688506 43688506 single base substitution C T synonymous_variant D848D 2544C>T COAD-US 1 43688507 43688507 single base substitution G A downstream_gene_variant COAD-US 1 43688507 43688507 single base substitution G A missense_variant V849I 2545G>A COAD-US 1 43688634 43688634 single base substitution G A downstream_gene_variant COAD-US 1 43688634 43688634 single base substitution G A missense_variant R891Q 2672G>A COAD-US 1 43699970 43699970 single base substitution G A synonymous_variant L1049L 3147G>A COAD-US 1 43700003 43700003 single base substitution C T synonymous_variant C1060C 3180C>T COAD-US 1 43700218 43700218 single base substitution G A missense_variant R1105Q 3314G>A COAD-US 1 43708959 43708959 single base substitution C T missense_variant S1156F 3467C>T COAD-US 1 43719746 43719746 single base substitution C T missense_variant R1213C 3637C>T COCA-CN 1 43642820 43642820 single base substitution G T exon_variant COCA-CN 1 43642820 43642820 single base substitution G T intron_variant COCA-CN 1 43642942 43642942 single base substitution C A intron_variant COCA-CN 1 43647553 43647553 single base substitution T G downstream_gene_variant COCA-CN 1 43647553 43647553 single base substitution T G intron_variant COCA-CN 1 43647553 43647553 single base substitution T G upstream_gene_variant COCA-CN 1 43649216 43649216 single base substitution G T downstream_gene_variant COCA-CN 1 43649216 43649216 single base substitution G T intron_variant COCA-CN 1 43649216 43649216 single base substitution G T upstream_gene_variant COCA-CN 1 43649232 43649232 single base substitution T G downstream_gene_variant COCA-CN 1 43649232 43649232 single base substitution T G intron_variant COCA-CN 1 43649232 43649232 single base substitution T G upstream_gene_variant COCA-CN 1 43649423 43649423 single base substitution C T 3_prime_UTR_variant COCA-CN 1 43649423 43649423 single base substitution C T downstream_gene_variant COCA-CN 1 43649423 43649423 single base substitution C T synonymous_variant V212V 636C>T COCA-CN 1 43649423 43649423 single base substitution C T upstream_gene_variant COCA-CN 1 43652487 43652487 single base substitution A G 3_prime_UTR_variant COCA-CN 1 43652487 43652487 single base substitution A G downstream_gene_variant COCA-CN 1 43652487 43652487 single base substitution A G missense_variant N360S 1079A>G COCA-CN 1 43663124 43663124 single base substitution C T intron_variant COCA-CN 1 43663376 43663376 single base substitution A G intron_variant COCA-CN 1 43664283 43664283 single base substitution C A 3_prime_UTR_variant COCA-CN 1 43664283 43664283 single base substitution C A missense_variant S465Y 1394C>A COCA-CN 1 43664915 43664915 single base substitution C A intron_variant COCA-CN 1 43672636 43672636 single base substitution T G intron_variant COCA-CN 1 43675674 43675674 single base substitution C A intron_variant COCA-CN 1 43675674 43675674 single base substitution C A missense_variant F672L 2016C>A COCA-CN 1 43685135 43685135 single base substitution A G exon_variant COCA-CN 1 43685135 43685135 single base substitution A G missense_variant N725S 2174A>G COCA-CN 1 43692520 43692520 single base substitution G A downstream_gene_variant COCA-CN 1 43692520 43692520 single base substitution G A intron_variant COCA-CN 1 43692887 43692887 single base substitution C T downstream_gene_variant COCA-CN 1 43692887 43692887 single base substitution C T intron_variant COCA-CN 1 43698278 43698278 single base substitution C T missense_variant R1037C 3109C>T EOPC-DE 1 43683289 43683289 single base substitution T A intron_variant EOPC-DE 1 43706690 43706690 single base substitution G A intron_variant ESAD-UK 1 43632997 43632997 single base substitution A G upstream_gene_variant ESAD-UK 1 43637099 43637099 single base substitution C T upstream_gene_variant ESAD-UK 1 43638674 43638674 single base substitution G T intron_variant ESAD-UK 1 43638864 43638864 single base substitution C G intron_variant ESAD-UK 1 43640890 43640890 single base substitution T C intron_variant ESAD-UK 1 43641178 43641178 insertion of <=200bp - ATTTA intron_variant ESAD-UK 1 43641607 43641607 single base substitution C A intron_variant ESAD-UK 1 43641913 43641913 single base substitution G A intron_variant ESAD-UK 1 43643604 43643604 single base substitution G A intron_variant ESAD-UK 1 43646261 43646261 single base substitution C T intron_variant ESAD-UK 1 43646261 43646261 single base substitution C T upstream_gene_variant ESAD-UK 1 43646867 43646867 single base substitution C T intron_variant ESAD-UK 1 43646867 43646867 single base substitution C T upstream_gene_variant ESAD-UK 1 43647495 43647495 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 43647495 43647495 single base substitution G A downstream_gene_variant ESAD-UK 1 43647495 43647495 single base substitution G A missense_variant D150N 448G>A ESAD-UK 1 43647495 43647495 single base substitution G A upstream_gene_variant ESAD-UK 1 43649079 43649079 single base substitution C T downstream_gene_variant ESAD-UK 1 43649079 43649079 single base substitution C T intron_variant ESAD-UK 1 43649079 43649079 single base substitution C T upstream_gene_variant ESAD-UK 1 43651488 43651488 single base substitution C T downstream_gene_variant ESAD-UK 1 43651488 43651488 single base substitution C T intron_variant ESAD-UK 1 43651729 43651729 single base substitution G A downstream_gene_variant ESAD-UK 1 43651729 43651729 single base substitution G A intron_variant ESAD-UK 1 43656035 43656035 single base substitution G A downstream_gene_variant ESAD-UK 1 43656035 43656035 single base substitution G A intron_variant ESAD-UK 1 43656183 43656183 single base substitution C T downstream_gene_variant ESAD-UK 1 43656183 43656183 single base substitution C T intron_variant ESAD-UK 1 43656221 43656221 single base substitution G A downstream_gene_variant ESAD-UK 1 43656221 43656221 single base substitution G A intron_variant ESAD-UK 1 43656262 43656262 single base substitution A C downstream_gene_variant ESAD-UK 1 43656262 43656262 single base substitution A C intron_variant ESAD-UK 1 43658449 43658449 single base substitution T A intron_variant ESAD-UK 1 43658605 43658605 single base substitution A T intron_variant ESAD-UK 1 43658716 43658716 insertion of <=200bp - A intron_variant ESAD-UK 1 43660263 43660263 single base substitution G A intron_variant ESAD-UK 1 43661654 43661654 single base substitution A C intron_variant ESAD-UK 1 43662984 43662984 single base substitution C T intron_variant ESAD-UK 1 43663124 43663124 single base substitution C T intron_variant ESAD-UK 1 43668191 43668191 single base substitution C T intron_variant ESAD-UK 1 43673143 43673143 single base substitution G A intron_variant ESAD-UK 1 43673359 43673359 single base substitution C T intron_variant ESAD-UK 1 43673687 43673687 single base substitution G A intron_variant ESAD-UK 1 43675048 43675048 single base substitution G A intron_variant ESAD-UK 1 43675056 43675056 single base substitution T C intron_variant ESAD-UK 1 43676551 43676551 single base substitution C T downstream_gene_variant ESAD-UK 1 43676551 43676551 single base substitution C T intron_variant ESAD-UK 1 43676551 43676551 single base substitution C T upstream_gene_variant ESAD-UK 1 43683996 43683996 single base substitution G A intron_variant ESAD-UK 1 43684486 43684486 single base substitution A C intron_variant ESAD-UK 1 43691896 43691896 single base substitution T C downstream_gene_variant ESAD-UK 1 43691896 43691896 single base substitution T C intron_variant ESAD-UK 1 43695638 43695638 single base substitution G A intron_variant ESAD-UK 1 43697250 43697250 single base substitution C T intron_variant ESAD-UK 1 43701931 43701931 single base substitution T G intron_variant ESAD-UK 1 43702585 43702585 single base substitution A C intron_variant ESAD-UK 1 43705219 43705222 deletion of <=200bp AGGA - intron_variant ESAD-UK 1 43705335 43705335 single base substitution G A intron_variant ESAD-UK 1 43705652 43705652 single base substitution G A intron_variant ESAD-UK 1 43705851 43705851 single base substitution G T intron_variant ESAD-UK 1 43705944 43705944 single base substitution C G intron_variant ESAD-UK 1 43707097 43707097 single base substitution G A intron_variant ESAD-UK 1 43709046 43709046 single base substitution G T intron_variant ESAD-UK 1 43709170 43709170 single base substitution C T intron_variant ESAD-UK 1 43711089 43711089 single base substitution C T intron_variant ESAD-UK 1 43711753 43711753 single base substitution G A intron_variant ESAD-UK 1 43711986 43711986 single base substitution C T intron_variant ESAD-UK 1 43712192 43712192 single base substitution T A intron_variant ESAD-UK 1 43712324 43712324 single base substitution G A intron_variant ESAD-UK 1 43713330 43713330 single base substitution C T intron_variant ESAD-UK 1 43713807 43713807 deletion of <=200bp C - intron_variant ESAD-UK 1 43718773 43718773 single base substitution C T intron_variant ESAD-UK 1 43719526 43719526 single base substitution G A intron_variant ESAD-UK 1 43719864 43719864 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 43720832 43720832 single base substitution C T downstream_gene_variant ESCA-CN 1 43632888 43632888 single base substitution G A upstream_gene_variant ESCA-CN 1 43647329 43647329 single base substitution C A 3_prime_UTR_variant ESCA-CN 1 43647329 43647329 single base substitution C A stop_gained C94* 282C>A ESCA-CN 1 43647329 43647329 single base substitution C A upstream_gene_variant ESCA-CN 1 43647449 43647449 single base substitution C G 3_prime_UTR_variant ESCA-CN 1 43647449 43647449 single base substitution C G downstream_gene_variant ESCA-CN 1 43647449 43647449 single base substitution C G synonymous_variant V134V 402C>G ESCA-CN 1 43647449 43647449 single base substitution C G upstream_gene_variant ESCA-CN 1 43650858 43650858 single base substitution C T 3_prime_UTR_variant ESCA-CN 1 43650858 43650858 single base substitution C T downstream_gene_variant ESCA-CN 1 43650858 43650858 single base substitution C T exon_variant ESCA-CN 1 43650858 43650858 single base substitution C T missense_variant S267F 800C>T ESCA-CN 1 43675467 43675467 single base substitution G A 3_prime_UTR_variant ESCA-CN 1 43675467 43675467 single base substitution G A synonymous_variant S603S 1809G>A ESCA-CN 1 43689747 43689747 single base substitution C T downstream_gene_variant ESCA-CN 1 43689747 43689747 single base substitution C T stop_gained R913* 2737C>T ESCA-CN 1 43692672 43692672 single base substitution C T downstream_gene_variant ESCA-CN 1 43692672 43692672 single base substitution C T synonymous_variant L962L 2884C>T GBM-US 1 43649424 43649424 single base substitution G A 3_prime_UTR_variant GBM-US 1 43649424 43649424 single base substitution G A downstream_gene_variant GBM-US 1 43649424 43649424 single base substitution G A missense_variant V213I 637G>A GBM-US 1 43649424 43649424 single base substitution G A upstream_gene_variant GBM-US 1 43651007 43651007 single base substitution C A 3_prime_UTR_variant GBM-US 1 43651007 43651007 single base substitution C A downstream_gene_variant GBM-US 1 43651007 43651007 single base substitution C A exon_variant GBM-US 1 43651007 43651007 single base substitution C A missense_variant R317S 949C>A GBM-US 1 43663300 43663300 single base substitution G A 3_prime_UTR_variant GBM-US 1 43663300 43663300 single base substitution G A missense_variant R400H 1199G>A GBM-US 1 43665064 43665064 single base substitution T A 3_prime_UTR_variant GBM-US 1 43665064 43665064 single base substitution T A missense_variant S478T 1432T>A KIRC-US 1 43637236 43637236 single base substitution C A upstream_gene_variant KIRC-US 1 43647495 43647495 single base substitution G T 3_prime_UTR_variant KIRC-US 1 43647495 43647495 single base substitution G T downstream_gene_variant KIRC-US 1 43647495 43647495 single base substitution G T missense_variant D150Y 448G>T KIRC-US 1 43647495 43647495 single base substitution G T upstream_gene_variant KIRC-US 1 43649511 43649511 single base substitution G A 3_prime_UTR_variant KIRC-US 1 43649511 43649511 single base substitution G A downstream_gene_variant KIRC-US 1 43649511 43649511 single base substitution G A missense_variant G242S 724G>A KIRC-US 1 43649511 43649511 single base substitution G A upstream_gene_variant KIRP-US 1 43649478 43649478 single base substitution G C 3_prime_UTR_variant KIRP-US 1 43649478 43649478 single base substitution G C downstream_gene_variant KIRP-US 1 43649478 43649478 single base substitution G C missense_variant E231Q 691G>C KIRP-US 1 43649478 43649478 single base substitution G C upstream_gene_variant KIRP-US 1 43675436 43675439 deletion of <=200bp TTGA - 3_prime_UTR_variant KIRP-US 1 43675436 43675439 deletion of <=200bp TTGA - frameshift_variant FD593 LAML-KR 1 43724797 43724797 single base substitution G A downstream_gene_variant LGG-US 1 43675514 43675514 single base substitution G A 3_prime_UTR_variant LGG-US 1 43675514 43675514 single base substitution G A missense_variant R619H 1856G>A LICA-CN 1 43708986 43708986 single base substitution T C missense_variant L1165P 3494T>C LICA-FR 1 43638006 43638006 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LICA-FR 1 43638006 43638006 single base substitution C T upstream_gene_variant LICA-FR 1 43647469 43647469 single base substitution A G 3_prime_UTR_variant LICA-FR 1 43647469 43647469 single base substitution A G downstream_gene_variant LICA-FR 1 43647469 43647469 single base substitution A G missense_variant Q141R 422A>G LICA-FR 1 43647469 43647469 single base substitution A G upstream_gene_variant LICA-FR 1 43647470 43647470 single base substitution G T 3_prime_UTR_variant LICA-FR 1 43647470 43647470 single base substitution G T downstream_gene_variant LICA-FR 1 43647470 43647470 single base substitution G T missense_variant Q141H 423G>T LICA-FR 1 43647470 43647470 single base substitution G T upstream_gene_variant LICA-FR 1 43648821 43648821 single base substitution G C downstream_gene_variant LICA-FR 1 43648821 43648821 single base substitution G C intron_variant LICA-FR 1 43648821 43648821 single base substitution G C upstream_gene_variant LICA-FR 1 43650876 43650876 single base substitution C T 3_prime_UTR_variant LICA-FR 1 43650876 43650876 single base substitution C T downstream_gene_variant LICA-FR 1 43650876 43650876 single base substitution C T exon_variant LICA-FR 1 43650876 43650876 single base substitution C T missense_variant A273V 818C>T LICA-FR 1 43657302 43657302 single base substitution A T downstream_gene_variant LICA-FR 1 43657302 43657302 single base substitution A T intron_variant LICA-FR 1 43668845 43668845 insertion of <=200bp - CAAAA intron_variant LICA-FR 1 43678215 43678215 single base substitution G A downstream_gene_variant LICA-FR 1 43678215 43678215 single base substitution G A intron_variant LICA-FR 1 43678215 43678215 single base substitution G A upstream_gene_variant LICA-FR 1 43682234 43682234 single base substitution C A intron_variant LICA-FR 1 43700008 43700008 single base substitution C T missense_variant A1062V 3185C>T LIHC-US 1 43637633 43637633 single base substitution T C upstream_gene_variant LIHC-US 1 43637963 43637963 single base substitution A G 5_prime_UTR_variant LIHC-US 1 43637963 43637963 single base substitution A G upstream_gene_variant LIHC-US 1 43638463 43638463 single base substitution T C exon_variant LIHC-US 1 43638463 43638463 single base substitution T C synonymous_variant G13G 39T>C LIHC-US 1 43649280 43649280 single base substitution G C 3_prime_UTR_variant LIHC-US 1 43649280 43649280 single base substitution G C downstream_gene_variant LIHC-US 1 43649280 43649280 single base substitution G C missense_variant D165H 493G>C LIHC-US 1 43649280 43649280 single base substitution G C upstream_gene_variant LIHC-US 1 43664184 43664184 single base substitution A G 3_prime_UTR_variant LIHC-US 1 43664184 43664184 single base substitution A G missense_variant E432G 1295A>G LIHC-US 1 43687775 43687775 single base substitution G A splice_acceptor_variant LINC-JP 1 43636362 43636362 single base substitution T C upstream_gene_variant LINC-JP 1 43638267 43638267 single base substitution G A intron_variant LINC-JP 1 43665412 43665412 single base substitution G A intron_variant LINC-JP 1 43672558 43672558 single base substitution T C 3_prime_UTR_variant LINC-JP 1 43672558 43672558 single base substitution T C synonymous_variant F570F 1710T>C LINC-JP 1 43685199 43685199 insertion of <=200bp - A exon_variant LINC-JP 1 43685199 43685199 insertion of <=200bp - A frameshift_variant T746T? LINC-JP 1 43688446 43688446 single base substitution T C downstream_gene_variant LINC-JP 1 43688446 43688446 single base substitution T C intron_variant LINC-JP 1 43688569 43688569 single base substitution A T downstream_gene_variant LINC-JP 1 43688569 43688569 single base substitution A T synonymous_variant R869R 2607A>T LINC-JP 1 43695824 43695824 single base substitution T C intron_variant LINC-JP 1 43695918 43695918 single base substitution G A intron_variant LINC-JP 1 43696397 43696397 single base substitution T C intron_variant LINC-JP 1 43702692 43702692 single base substitution C T intron_variant LINC-JP 1 43704921 43704921 single base substitution G A intron_variant LINC-JP 1 43723889 43723889 single base substitution G C downstream_gene_variant LIRI-JP 1 43634868 43634868 single base substitution A G upstream_gene_variant LIRI-JP 1 43637055 43637055 single base substitution A T upstream_gene_variant LIRI-JP 1 43640240 43640240 single base substitution G A intron_variant LIRI-JP 1 43640775 43640775 single base substitution A T intron_variant LIRI-JP 1 43641907 43641907 single base substitution T C intron_variant LIRI-JP 1 43642067 43642067 single base substitution C A intron_variant LIRI-JP 1 43647256 43647256 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 43647256 43647256 single base substitution G A missense_variant R70Q 209G>A LIRI-JP 1 43647256 43647256 single base substitution G A upstream_gene_variant LIRI-JP 1 43647471 43647471 insertion of <=200bp - A 3_prime_UTR_variant LIRI-JP 1 43647471 43647471 insertion of <=200bp - A downstream_gene_variant LIRI-JP 1 43647471 43647471 insertion of <=200bp - A frameshift_variant K142K? LIRI-JP 1 43647471 43647471 insertion of <=200bp - A upstream_gene_variant LIRI-JP 1 43648042 43648042 single base substitution G C downstream_gene_variant LIRI-JP 1 43648042 43648042 single base substitution G C intron_variant LIRI-JP 1 43648042 43648042 single base substitution G C upstream_gene_variant LIRI-JP 1 43649644 43649644 single base substitution A G downstream_gene_variant LIRI-JP 1 43649644 43649644 single base substitution A G intron_variant LIRI-JP 1 43649644 43649644 single base substitution A G upstream_gene_variant LIRI-JP 1 43650086 43650086 insertion of <=200bp - AT downstream_gene_variant LIRI-JP 1 43650086 43650086 insertion of <=200bp - AT intron_variant LIRI-JP 1 43650086 43650086 insertion of <=200bp - AT upstream_gene_variant LIRI-JP 1 43650497 43650498 deletion of <=200bp CA - downstream_gene_variant LIRI-JP 1 43650497 43650498 deletion of <=200bp CA - intron_variant LIRI-JP 1 43650497 43650498 deletion of <=200bp CA - upstream_gene_variant LIRI-JP 1 43650572 43650572 single base substitution C T downstream_gene_variant LIRI-JP 1 43650572 43650572 single base substitution C T exon_variant LIRI-JP 1 43650572 43650572 single base substitution C T intron_variant LIRI-JP 1 43650621 43650621 single base substitution A G downstream_gene_variant LIRI-JP 1 43650621 43650621 single base substitution A G exon_variant LIRI-JP 1 43650621 43650621 single base substitution A G intron_variant LIRI-JP 1 43653194 43653194 single base substitution T C downstream_gene_variant LIRI-JP 1 43653194 43653194 single base substitution T C intron_variant LIRI-JP 1 43653731 43653731 single base substitution T C downstream_gene_variant LIRI-JP 1 43653731 43653731 single base substitution T C intron_variant LIRI-JP 1 43654132 43654132 single base substitution T C downstream_gene_variant LIRI-JP 1 43654132 43654132 single base substitution T C intron_variant LIRI-JP 1 43654990 43654990 single base substitution A G downstream_gene_variant LIRI-JP 1 43654990 43654990 single base substitution A G intron_variant LIRI-JP 1 43656906 43656906 single base substitution T C downstream_gene_variant LIRI-JP 1 43656906 43656906 single base substitution T C intron_variant LIRI-JP 1 43657084 43657084 single base substitution C A downstream_gene_variant LIRI-JP 1 43657084 43657084 single base substitution C A intron_variant LIRI-JP 1 43660218 43660218 single base substitution C T intron_variant LIRI-JP 1 43660426 43660426 single base substitution T C intron_variant LIRI-JP 1 43661666 43661666 single base substitution T C intron_variant LIRI-JP 1 43662820 43662820 single base substitution C T intron_variant LIRI-JP 1 43662929 43662929 single base substitution G T intron_variant LIRI-JP 1 43664658 43664658 single base substitution T A intron_variant LIRI-JP 1 43664837 43664837 single base substitution T A intron_variant LIRI-JP 1 43664845 43664845 single base substitution C T intron_variant LIRI-JP 1 43667487 43667487 single base substitution T C intron_variant LIRI-JP 1 43669523 43669523 single base substitution T C intron_variant LIRI-JP 1 43670219 43670219 single base substitution A T intron_variant LIRI-JP 1 43670240 43670240 single base substitution C A intron_variant LIRI-JP 1 43673518 43673518 single base substitution T G intron_variant LIRI-JP 1 43675427 43675427 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 43675427 43675427 single base substitution T C missense_variant I590T 1769T>C LIRI-JP 1 43675772 43675772 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 43675772 43675772 single base substitution T C intron_variant LIRI-JP 1 43677846 43677846 single base substitution A G downstream_gene_variant LIRI-JP 1 43677846 43677846 single base substitution A G intron_variant LIRI-JP 1 43677846 43677846 single base substitution A G upstream_gene_variant LIRI-JP 1 43680896 43680896 single base substitution C A downstream_gene_variant LIRI-JP 1 43680896 43680896 single base substitution C A intron_variant LIRI-JP 1 43680896 43680896 single base substitution C A upstream_gene_variant LIRI-JP 1 43683620 43683620 single base substitution T C intron_variant LIRI-JP 1 43686505 43686505 single base substitution T C intron_variant LIRI-JP 1 43686598 43686598 single base substitution C T intron_variant LIRI-JP 1 43687567 43687567 single base substitution A C intron_variant LIRI-JP 1 43689495 43689495 single base substitution T C downstream_gene_variant LIRI-JP 1 43689495 43689495 single base substitution T C intron_variant LIRI-JP 1 43692565 43692572 deletion of <=200bp GTCACAGG - downstream_gene_variant LIRI-JP 1 43692565 43692572 deletion of <=200bp GTCACAGG - intron_variant LIRI-JP 1 43699352 43699352 single base substitution A C intron_variant LIRI-JP 1 43699353 43699353 single base substitution C A intron_variant LIRI-JP 1 43699604 43699604 single base substitution T C intron_variant LIRI-JP 1 43700244 43700244 single base substitution A C missense_variant T1114P 3340A>C LIRI-JP 1 43702887 43702887 single base substitution A G intron_variant LIRI-JP 1 43704044 43704044 single base substitution T A intron_variant LIRI-JP 1 43704854 43704854 insertion of <=200bp - T intron_variant LIRI-JP 1 43708004 43708004 single base substitution T C intron_variant LIRI-JP 1 43708519 43708519 single base substitution T C intron_variant LIRI-JP 1 43710352 43710352 single base substitution G T intron_variant LIRI-JP 1 43711054 43711054 single base substitution G A intron_variant LIRI-JP 1 43713366 43713366 single base substitution T C intron_variant LIRI-JP 1 43714560 43714560 single base substitution T A intron_variant LIRI-JP 1 43715597 43715597 single base substitution A G intron_variant LIRI-JP 1 43719197 43719197 single base substitution C A intron_variant LIRI-JP 1 43720387 43720387 single base substitution C A downstream_gene_variant LIRI-JP 1 43723424 43723424 single base substitution C T downstream_gene_variant LIRI-JP 1 43723549 43723549 single base substitution C A downstream_gene_variant LIRI-JP 1 43724302 43724302 single base substitution G C downstream_gene_variant LUSC-KR 1 43633863 43633863 single base substitution G T upstream_gene_variant LUSC-KR 1 43638783 43638783 single base substitution A G intron_variant LUSC-KR 1 43638922 43638922 single base substitution C A intron_variant LUSC-KR 1 43646771 43646771 single base substitution C A intron_variant LUSC-KR 1 43646771 43646771 single base substitution C A upstream_gene_variant LUSC-KR 1 43649782 43649782 single base substitution T G downstream_gene_variant LUSC-KR 1 43649782 43649782 single base substitution T G intron_variant LUSC-KR 1 43649782 43649782 single base substitution T G upstream_gene_variant LUSC-KR 1 43653634 43653634 single base substitution C T downstream_gene_variant LUSC-KR 1 43653634 43653634 single base substitution C T intron_variant LUSC-KR 1 43678763 43678763 single base substitution T C downstream_gene_variant LUSC-KR 1 43678763 43678763 single base substitution T C intron_variant LUSC-KR 1 43678763 43678763 single base substitution T C upstream_gene_variant LUSC-KR 1 43691491 43691491 single base substitution G A downstream_gene_variant LUSC-KR 1 43691491 43691491 single base substitution G A intron_variant LUSC-KR 1 43691980 43691980 single base substitution G A downstream_gene_variant LUSC-KR 1 43691980 43691980 single base substitution G A intron_variant LUSC-KR 1 43703041 43703041 single base substitution C T intron_variant LUSC-KR 1 43718005 43718005 single base substitution G A intron_variant LUSC-KR 1 43721379 43721379 single base substitution C T downstream_gene_variant LUSC-KR 1 43721662 43721662 single base substitution G A downstream_gene_variant LUSC-KR 1 43724419 43724419 single base substitution C A downstream_gene_variant LUSC-US 1 43649507 43649507 single base substitution C A 3_prime_UTR_variant LUSC-US 1 43649507 43649507 single base substitution C A downstream_gene_variant LUSC-US 1 43649507 43649507 single base substitution C A synonymous_variant T240T 720C>A LUSC-US 1 43649507 43649507 single base substitution C A upstream_gene_variant LUSC-US 1 43665131 43665131 single base substitution C T 3_prime_UTR_variant LUSC-US 1 43665131 43665131 single base substitution C T missense_variant T500M 1499C>T MALY-DE 1 43635905 43635905 single base substitution C T upstream_gene_variant MALY-DE 1 43640728 43640728 single base substitution T C intron_variant MALY-DE 1 43667578 43667578 single base substitution G A intron_variant MALY-DE 1 43674973 43674973 single base substitution C T intron_variant MALY-DE 1 43700072 43700072 single base substitution G A synonymous_variant Q1083Q 3249G>A MALY-DE 1 43701798 43701798 single base substitution G A intron_variant MALY-DE 1 43711751 43711751 single base substitution T C intron_variant MALY-DE 1 43721178 43721178 single base substitution C T downstream_gene_variant MELA-AU 1 43632897 43632897 single base substitution C T upstream_gene_variant MELA-AU 1 43632898 43632898 single base substitution C T upstream_gene_variant MELA-AU 1 43633360 43633360 single base substitution G A upstream_gene_variant MELA-AU 1 43633763 43633763 single base substitution T C upstream_gene_variant MELA-AU 1 43635024 43635024 single base substitution G T upstream_gene_variant MELA-AU 1 43635501 43635501 single base substitution C G upstream_gene_variant MELA-AU 1 43636231 43636231 single base substitution G A upstream_gene_variant MELA-AU 1 43637842 43637842 single base substitution C T 5_prime_UTR_variant MELA-AU 1 43637842 43637842 single base substitution C T upstream_gene_variant MELA-AU 1 43637980 43637980 single base substitution C T 5_prime_UTR_variant MELA-AU 1 43637980 43637980 single base substitution C T upstream_gene_variant MELA-AU 1 43637996 43637996 single base substitution A G 5_prime_UTR_variant MELA-AU 1 43637996 43637996 single base substitution A G upstream_gene_variant MELA-AU 1 43638005 43638005 single base substitution C T 5_prime_UTR_variant MELA-AU 1 43638005 43638005 single base substitution C T upstream_gene_variant MELA-AU 1 43638006 43638006 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 1 43638006 43638006 single base substitution C T upstream_gene_variant MELA-AU 1 43638024 43638024 single base substitution G A 5_prime_UTR_variant MELA-AU 1 43638024 43638024 single base substitution G A upstream_gene_variant MELA-AU 1 43638083 43638083 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 1 43638083 43638083 single base substitution C T intron_variant MELA-AU 1 43638083 43638083 single base substitution C T upstream_gene_variant MELA-AU 1 43638415 43638415 single base substitution G A 5_prime_UTR_variant MELA-AU 1 43639499 43639499 single base substitution C T intron_variant MELA-AU 1 43640089 43640089 single base substitution C T intron_variant MELA-AU 1 43640146 43640146 single base substitution T C intron_variant MELA-AU 1 43640640 43640640 single base substitution C T intron_variant MELA-AU 1 43640682 43640682 single base substitution T A intron_variant MELA-AU 1 43640723 43640723 single base substitution G A intron_variant MELA-AU 1 43641031 43641031 single base substitution C T intron_variant MELA-AU 1 43641049 43641049 single base substitution C T intron_variant MELA-AU 1 43641230 43641230 single base substitution G A intron_variant MELA-AU 1 43641361 43641361 single base substitution G A intron_variant MELA-AU 1 43641418 43641418 single base substitution C T intron_variant MELA-AU 1 43641445 43641445 single base substitution G T intron_variant MELA-AU 1 43641535 43641535 single base substitution C T intron_variant MELA-AU 1 43641743 43641743 single base substitution T A intron_variant MELA-AU 1 43641843 43641843 single base substitution G A intron_variant MELA-AU 1 43641869 43641869 single base substitution C T intron_variant MELA-AU 1 43641932 43641932 single base substitution G A intron_variant MELA-AU 1 43642077 43642077 single base substitution G A intron_variant MELA-AU 1 43642105 43642105 single base substitution G A intron_variant MELA-AU 1 43642338 43642338 single base substitution G A intron_variant MELA-AU 1 43642630 43642630 single base substitution G A intron_variant MELA-AU 1 43642775 43642775 single base substitution G A intron_variant MELA-AU 1 43642999 43642999 single base substitution G A intron_variant MELA-AU 1 43643081 43643081 single base substitution T C intron_variant MELA-AU 1 43643182 43643182 single base substitution C G intron_variant MELA-AU 1 43643195 43643195 single base substitution G A intron_variant MELA-AU 1 43643310 43643310 single base substitution G A intron_variant MELA-AU 1 43643378 43643378 single base substitution C T intron_variant MELA-AU 1 43643518 43643518 single base substitution C T intron_variant MELA-AU 1 43643557 43643557 single base substitution C T intron_variant MELA-AU 1 43643739 43643739 single base substitution G A intron_variant MELA-AU 1 43643909 43643909 single base substitution C T intron_variant MELA-AU 1 43644213 43644213 single base substitution C T intron_variant MELA-AU 1 43644408 43644408 single base substitution G A intron_variant MELA-AU 1 43644409 43644409 single base substitution G A intron_variant MELA-AU 1 43644586 43644586 single base substitution G A intron_variant MELA-AU 1 43644611 43644611 single base substitution G A intron_variant MELA-AU 1 43644657 43644657 single base substitution G A intron_variant MELA-AU 1 43645200 43645200 single base substitution G A intron_variant MELA-AU 1 43645372 43645373 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 43645654 43645654 single base substitution G A intron_variant MELA-AU 1 43645654 43645654 single base substitution G A upstream_gene_variant MELA-AU 1 43645669 43645669 single base substitution G A intron_variant MELA-AU 1 43645669 43645669 single base substitution G A upstream_gene_variant MELA-AU 1 43645804 43645804 single base substitution G A intron_variant MELA-AU 1 43645804 43645804 single base substitution G A upstream_gene_variant MELA-AU 1 43645853 43645853 single base substitution G T intron_variant MELA-AU 1 43645853 43645853 single base substitution G T upstream_gene_variant MELA-AU 1 43646729 43646729 single base substitution C T intron_variant MELA-AU 1 43646729 43646729 single base substitution C T upstream_gene_variant MELA-AU 1 43647152 43647153 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 43647152 43647153 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 43647185 43647185 single base substitution C T intron_variant MELA-AU 1 43647185 43647185 single base substitution C T upstream_gene_variant MELA-AU 1 43647269 43647269 single base substitution C T 3_prime_UTR_variant MELA-AU 1 43647269 43647269 single base substitution C T synonymous_variant I74I 222C>T MELA-AU 1 43647269 43647269 single base substitution C T upstream_gene_variant MELA-AU 1 43647397 43647397 single base substitution C T 3_prime_UTR_variant MELA-AU 1 43647397 43647397 single base substitution C T downstream_gene_variant MELA-AU 1 43647397 43647397 single base substitution C T missense_variant P117L 350C>T MELA-AU 1 43647397 43647397 single base substitution C T upstream_gene_variant MELA-AU 1 43647572 43647572 single base substitution T A downstream_gene_variant MELA-AU 1 43647572 43647572 single base substitution T A intron_variant MELA-AU 1 43647572 43647572 single base substitution T A upstream_gene_variant MELA-AU 1 43647635 43647635 single base substitution C T downstream_gene_variant MELA-AU 1 43647635 43647635 single base substitution C T intron_variant MELA-AU 1 43647635 43647635 single base substitution C T upstream_gene_variant MELA-AU 1 43647980 43647980 single base substitution C T downstream_gene_variant MELA-AU 1 43647980 43647980 single base substitution C T intron_variant MELA-AU 1 43647980 43647980 single base substitution C T upstream_gene_variant MELA-AU 1 43648010 43648010 single base substitution G A downstream_gene_variant MELA-AU 1 43648010 43648010 single base substitution G A intron_variant MELA-AU 1 43648010 43648010 single base substitution G A upstream_gene_variant MELA-AU 1 43648105 43648105 single base substitution A C downstream_gene_variant MELA-AU 1 43648105 43648105 single base substitution A C intron_variant MELA-AU 1 43648105 43648105 single base substitution A C upstream_gene_variant MELA-AU 1 43648164 43648164 single base substitution C T downstream_gene_variant MELA-AU 1 43648164 43648164 single base substitution C T intron_variant MELA-AU 1 43648164 43648164 single base substitution C T upstream_gene_variant MELA-AU 1 43648651 43648651 single base substitution T C downstream_gene_variant MELA-AU 1 43648651 43648651 single base substitution T C intron_variant MELA-AU 1 43648651 43648651 single base substitution T C upstream_gene_variant MELA-AU 1 43648778 43648778 single base substitution C T downstream_gene_variant MELA-AU 1 43648778 43648778 single base substitution C T intron_variant MELA-AU 1 43648778 43648778 single base substitution C T upstream_gene_variant MELA-AU 1 43648808 43648808 single base substitution C T downstream_gene_variant MELA-AU 1 43648808 43648808 single base substitution C T intron_variant MELA-AU 1 43648808 43648808 single base substitution C T upstream_gene_variant MELA-AU 1 43648913 43648913 single base substitution C T downstream_gene_variant MELA-AU 1 43648913 43648913 single base substitution C T intron_variant MELA-AU 1 43648913 43648913 single base substitution C T upstream_gene_variant MELA-AU 1 43648964 43648964 single base substitution C T downstream_gene_variant MELA-AU 1 43648964 43648964 single base substitution C T intron_variant MELA-AU 1 43648964 43648964 single base substitution C T upstream_gene_variant MELA-AU 1 43649146 43649146 single base substitution G A downstream_gene_variant MELA-AU 1 43649146 43649146 single base substitution G A intron_variant MELA-AU 1 43649146 43649146 single base substitution G A upstream_gene_variant MELA-AU 1 43649311 43649312 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 1 43649311 43649312 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 43649311 43649312 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant G175E 524GG>AA MELA-AU 1 43649311 43649312 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 43649462 43649462 single base substitution T G 3_prime_UTR_variant MELA-AU 1 43649462 43649462 single base substitution T G downstream_gene_variant MELA-AU 1 43649462 43649462 single base substitution T G synonymous_variant S225S 675T>G MELA-AU 1 43649462 43649462 single base substitution T G upstream_gene_variant MELA-AU 1 43649646 43649646 single base substitution C A downstream_gene_variant MELA-AU 1 43649646 43649646 single base substitution C A intron_variant MELA-AU 1 43649646 43649646 single base substitution C A upstream_gene_variant MELA-AU 1 43649647 43649647 single base substitution G A downstream_gene_variant MELA-AU 1 43649647 43649647 single base substitution G A intron_variant MELA-AU 1 43649647 43649647 single base substitution G A upstream_gene_variant MELA-AU 1 43649691 43649691 single base substitution C T downstream_gene_variant MELA-AU 1 43649691 43649691 single base substitution C T intron_variant MELA-AU 1 43649691 43649691 single base substitution C T upstream_gene_variant MELA-AU 1 43649744 43649744 single base substitution C T downstream_gene_variant MELA-AU 1 43649744 43649744 single base substitution C T intron_variant MELA-AU 1 43649744 43649744 single base substitution C T upstream_gene_variant MELA-AU 1 43649786 43649786 single base substitution G A downstream_gene_variant MELA-AU 1 43649786 43649786 single base substitution G A intron_variant MELA-AU 1 43649786 43649786 single base substitution G A upstream_gene_variant MELA-AU 1 43649909 43649910 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 43649909 43649910 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 43649909 43649910 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 43649926 43649926 single base substitution G A downstream_gene_variant MELA-AU 1 43649926 43649926 single base substitution G A intron_variant MELA-AU 1 43649926 43649926 single base substitution G A upstream_gene_variant MELA-AU 1 43649943 43649943 single base substitution G A downstream_gene_variant MELA-AU 1 43649943 43649943 single base substitution G A intron_variant MELA-AU 1 43649943 43649943 single base substitution G A upstream_gene_variant MELA-AU 1 43649953 43649953 single base substitution G A downstream_gene_variant MELA-AU 1 43649953 43649953 single base substitution G A intron_variant MELA-AU 1 43649953 43649953 single base substitution G A upstream_gene_variant MELA-AU 1 43650037 43650037 single base substitution C G downstream_gene_variant MELA-AU 1 43650037 43650037 single base substitution C G intron_variant MELA-AU 1 43650037 43650037 single base substitution C G upstream_gene_variant MELA-AU 1 43650081 43650081 single base substitution A T downstream_gene_variant MELA-AU 1 43650081 43650081 single base substitution A T intron_variant MELA-AU 1 43650081 43650081 single base substitution A T upstream_gene_variant MELA-AU 1 43650214 43650214 single base substitution G A downstream_gene_variant MELA-AU 1 43650214 43650214 single base substitution G A intron_variant MELA-AU 1 43650214 43650214 single base substitution G A upstream_gene_variant MELA-AU 1 43650380 43650380 single base substitution C T downstream_gene_variant MELA-AU 1 43650380 43650380 single base substitution C T intron_variant MELA-AU 1 43650380 43650380 single base substitution C T upstream_gene_variant MELA-AU 1 43650671 43650671 single base substitution C T downstream_gene_variant MELA-AU 1 43650671 43650671 single base substitution C T exon_variant MELA-AU 1 43650671 43650671 single base substitution C T intron_variant MELA-AU 1 43650757 43650757 single base substitution C A downstream_gene_variant MELA-AU 1 43650757 43650757 single base substitution C A exon_variant MELA-AU 1 43650757 43650757 single base substitution C A intron_variant MELA-AU 1 43650868 43650868 single base substitution G A 3_prime_UTR_variant MELA-AU 1 43650868 43650868 single base substitution G A downstream_gene_variant MELA-AU 1 43650868 43650868 single base substitution G A exon_variant MELA-AU 1 43650868 43650868 single base substitution G A synonymous_variant Q270Q 810G>A MELA-AU 1 43650888 43650888 single base substitution A G 3_prime_UTR_variant MELA-AU 1 43650888 43650888 single base substitution A G downstream_gene_variant MELA-AU 1 43650888 43650888 single base substitution A G exon_variant MELA-AU 1 43650888 43650888 single base substitution A G missense_variant H277R 830A>G MELA-AU 1 43651037 43651037 single base substitution G A downstream_gene_variant MELA-AU 1 43651037 43651037 single base substitution G A intron_variant MELA-AU 1 43651120 43651120 single base substitution G A downstream_gene_variant MELA-AU 1 43651120 43651120 single base substitution G A intron_variant MELA-AU 1 43651121 43651121 single base substitution G A downstream_gene_variant MELA-AU 1 43651121 43651121 single base substitution G A intron_variant MELA-AU 1 43651260 43651260 single base substitution C T downstream_gene_variant MELA-AU 1 43651260 43651260 single base substitution C T intron_variant MELA-AU 1 43651979 43651979 single base substitution C T downstream_gene_variant MELA-AU 1 43651979 43651979 single base substitution C T intron_variant MELA-AU 1 43652073 43652073 single base substitution G A downstream_gene_variant MELA-AU 1 43652073 43652073 single base substitution G A intron_variant MELA-AU 1 43652078 43652078 single base substitution C T downstream_gene_variant MELA-AU 1 43652078 43652078 single base substitution C T intron_variant MELA-AU 1 43652269 43652269 single base substitution G A downstream_gene_variant MELA-AU 1 43652269 43652269 single base substitution G A intron_variant MELA-AU 1 43652643 43652643 single base substitution C T downstream_gene_variant MELA-AU 1 43652643 43652643 single base substitution C T intron_variant MELA-AU 1 43652914 43652914 single base substitution T A downstream_gene_variant MELA-AU 1 43652914 43652914 single base substitution T A intron_variant MELA-AU 1 43653314 43653314 single base substitution C G downstream_gene_variant MELA-AU 1 43653314 43653314 single base substitution C G intron_variant MELA-AU 1 43653586 43653586 single base substitution C T downstream_gene_variant MELA-AU 1 43653586 43653586 single base substitution C T intron_variant MELA-AU 1 43653995 43653995 single base substitution G A downstream_gene_variant MELA-AU 1 43653995 43653995 single base substitution G A intron_variant MELA-AU 1 43654122 43654122 single base substitution A T downstream_gene_variant MELA-AU 1 43654122 43654122 single base substitution A T intron_variant MELA-AU 1 43654124 43654124 single base substitution C T downstream_gene_variant MELA-AU 1 43654124 43654124 single base substitution C T intron_variant MELA-AU 1 43654166 43654166 single base substitution C T downstream_gene_variant MELA-AU 1 43654166 43654166 single base substitution C T intron_variant MELA-AU 1 43654198 43654198 single base substitution T A downstream_gene_variant MELA-AU 1 43654198 43654198 single base substitution T A intron_variant MELA-AU 1 43654505 43654505 single base substitution C T downstream_gene_variant MELA-AU 1 43654505 43654505 single base substitution C T intron_variant MELA-AU 1 43654650 43654650 single base substitution C T downstream_gene_variant MELA-AU 1 43654650 43654650 single base substitution C T intron_variant MELA-AU 1 43654651 43654651 single base substitution C T downstream_gene_variant MELA-AU 1 43654651 43654651 single base substitution C T intron_variant MELA-AU 1 43654724 43654724 single base substitution C T downstream_gene_variant MELA-AU 1 43654724 43654724 single base substitution C T intron_variant MELA-AU 1 43655051 43655051 single base substitution G A downstream_gene_variant MELA-AU 1 43655051 43655051 single base substitution G A intron_variant MELA-AU 1 43655199 43655199 single base substitution C T downstream_gene_variant MELA-AU 1 43655199 43655199 single base substitution C T intron_variant MELA-AU 1 43655266 43655266 single base substitution T G downstream_gene_variant MELA-AU 1 43655266 43655266 single base substitution T G intron_variant MELA-AU 1 43655370 43655370 single base substitution G A downstream_gene_variant MELA-AU 1 43655370 43655370 single base substitution G A intron_variant MELA-AU 1 43655434 43655434 single base substitution G A downstream_gene_variant MELA-AU 1 43655434 43655434 single base substitution G A intron_variant MELA-AU 1 43655518 43655518 single base substitution G A downstream_gene_variant MELA-AU 1 43655518 43655518 single base substitution G A intron_variant MELA-AU 1 43655660 43655660 single base substitution C T downstream_gene_variant MELA-AU 1 43655660 43655660 single base substitution C T intron_variant MELA-AU 1 43655739 43655739 single base substitution C T downstream_gene_variant MELA-AU 1 43655739 43655739 single base substitution C T intron_variant MELA-AU 1 43655745 43655745 single base substitution G A downstream_gene_variant MELA-AU 1 43655745 43655745 single base substitution G A intron_variant MELA-AU 1 43655790 43655790 single base substitution T C downstream_gene_variant MELA-AU 1 43655790 43655790 single base substitution T C intron_variant MELA-AU 1 43655878 43655878 single base substitution C T downstream_gene_variant MELA-AU 1 43655878 43655878 single base substitution C T intron_variant MELA-AU 1 43655907 43655907 single base substitution C T downstream_gene_variant MELA-AU 1 43655907 43655907 single base substitution C T intron_variant MELA-AU 1 43655919 43655919 single base substitution G A downstream_gene_variant MELA-AU 1 43655919 43655919 single base substitution G A intron_variant MELA-AU 1 43655982 43655982 single base substitution C T downstream_gene_variant MELA-AU 1 43655982 43655982 single base substitution C T intron_variant MELA-AU 1 43656036 43656036 single base substitution G A downstream_gene_variant MELA-AU 1 43656036 43656036 single base substitution G A intron_variant MELA-AU 1 43656044 43656044 single base substitution C T downstream_gene_variant MELA-AU 1 43656044 43656044 single base substitution C T intron_variant MELA-AU 1 43656064 43656064 single base substitution C T downstream_gene_variant MELA-AU 1 43656064 43656064 single base substitution C T intron_variant MELA-AU 1 43656567 43656567 single base substitution G A downstream_gene_variant MELA-AU 1 43656567 43656567 single base substitution G A intron_variant MELA-AU 1 43656700 43656700 single base substitution G A downstream_gene_variant MELA-AU 1 43656700 43656700 single base substitution G A intron_variant MELA-AU 1 43656749 43656749 single base substitution G A downstream_gene_variant MELA-AU 1 43656749 43656749 single base substitution G A intron_variant MELA-AU 1 43656856 43656856 single base substitution C T downstream_gene_variant MELA-AU 1 43656856 43656856 single base substitution C T intron_variant MELA-AU 1 43656932 43656932 single base substitution G A downstream_gene_variant MELA-AU 1 43656932 43656932 single base substitution G A intron_variant MELA-AU 1 43657174 43657174 single base substitution C T downstream_gene_variant MELA-AU 1 43657174 43657174 single base substitution C T intron_variant MELA-AU 1 43657287 43657287 single base substitution C T downstream_gene_variant MELA-AU 1 43657287 43657287 single base substitution C T intron_variant MELA-AU 1 43657290 43657290 single base substitution C T downstream_gene_variant MELA-AU 1 43657290 43657290 single base substitution C T intron_variant MELA-AU 1 43657568 43657568 single base substitution C T intron_variant MELA-AU 1 43657714 43657714 single base substitution C T intron_variant MELA-AU 1 43657753 43657753 single base substitution A T intron_variant MELA-AU 1 43658221 43658221 single base substitution G A intron_variant MELA-AU 1 43658305 43658305 single base substitution C T intron_variant MELA-AU 1 43658319 43658319 single base substitution G A intron_variant MELA-AU 1 43658362 43658362 single base substitution G A intron_variant MELA-AU 1 43658371 43658371 single base substitution G A intron_variant MELA-AU 1 43658372 43658372 single base substitution G A intron_variant MELA-AU 1 43658417 43658417 single base substitution G A intron_variant MELA-AU 1 43658422 43658422 single base substitution C T intron_variant MELA-AU 1 43658597 43658597 single base substitution C T intron_variant MELA-AU 1 43658648 43658648 single base substitution C T intron_variant MELA-AU 1 43658714 43658714 single base substitution C T intron_variant MELA-AU 1 43658768 43658768 single base substitution C T intron_variant MELA-AU 1 43659046 43659046 single base substitution G A intron_variant MELA-AU 1 43659102 43659102 single base substitution C T intron_variant MELA-AU 1 43659417 43659417 single base substitution A T intron_variant MELA-AU 1 43659472 43659472 single base substitution A G intron_variant MELA-AU 1 43659649 43659649 single base substitution C T intron_variant MELA-AU 1 43659791 43659791 single base substitution C T intron_variant MELA-AU 1 43660009 43660009 single base substitution G A intron_variant MELA-AU 1 43660099 43660099 single base substitution C T intron_variant MELA-AU 1 43660134 43660134 single base substitution C T intron_variant MELA-AU 1 43660211 43660211 single base substitution C T intron_variant MELA-AU 1 43660316 43660316 single base substitution C T intron_variant MELA-AU 1 43660391 43660391 single base substitution C T intron_variant MELA-AU 1 43660457 43660457 single base substitution C T intron_variant MELA-AU 1 43660548 43660548 single base substitution C T intron_variant MELA-AU 1 43660609 43660609 single base substitution G A intron_variant MELA-AU 1 43660739 43660739 single base substitution G A intron_variant MELA-AU 1 43660805 43660805 single base substitution C T intron_variant MELA-AU 1 43660863 43660863 single base substitution G A intron_variant MELA-AU 1 43660876 43660876 single base substitution G A intron_variant MELA-AU 1 43660974 43660974 single base substitution C T intron_variant MELA-AU 1 43660990 43660990 single base substitution C T intron_variant MELA-AU 1 43661088 43661088 single base substitution G A intron_variant MELA-AU 1 43661107 43661107 single base substitution C T intron_variant MELA-AU 1 43661193 43661193 single base substitution A T intron_variant MELA-AU 1 43661365 43661365 single base substitution G A intron_variant MELA-AU 1 43661392 43661392 single base substitution C T intron_variant MELA-AU 1 43661494 43661494 single base substitution C T intron_variant MELA-AU 1 43662801 43662801 single base substitution G A intron_variant MELA-AU 1 43662809 43662809 single base substitution G A intron_variant MELA-AU 1 43662820 43662820 single base substitution C T intron_variant MELA-AU 1 43662845 43662845 single base substitution G A intron_variant MELA-AU 1 43662920 43662920 single base substitution C T intron_variant MELA-AU 1 43662958 43662958 single base substitution G A intron_variant MELA-AU 1 43662992 43662992 single base substitution C T intron_variant MELA-AU 1 43663192 43663192 single base substitution C T intron_variant MELA-AU 1 43663257 43663257 single base substitution C T 3_prime_UTR_variant MELA-AU 1 43663257 43663257 single base substitution C T missense_variant P386S 1156C>T MELA-AU 1 43663340 43663340 single base substitution C T 3_prime_UTR_variant MELA-AU 1 43663340 43663340 single base substitution C T synonymous_variant I413I 1239C>T MELA-AU 1 43663369 43663369 single base substitution G A splice_region_variant MELA-AU 1 43663427 43663427 single base substitution A T intron_variant MELA-AU 1 43663634 43663634 single base substitution A G intron_variant MELA-AU 1 43663664 43663664 single base substitution C T intron_variant MELA-AU 1 43663679 43663679 single base substitution G A intron_variant MELA-AU 1 43663797 43663797 single base substitution C T intron_variant MELA-AU 1 43663855 43663855 single base substitution G C intron_variant MELA-AU 1 43664017 43664017 single base substitution G A intron_variant MELA-AU 1 43664204 43664204 single base substitution C T 3_prime_UTR_variant MELA-AU 1 43664204 43664204 single base substitution C T missense_variant H439Y 1315C>T MELA-AU 1 43664298 43664298 single base substitution C T 3_prime_UTR_variant MELA-AU 1 43664298 43664298 single base substitution C T missense_variant S470F 1409C>T MELA-AU 1 43664354 43664354 single base substitution C T intron_variant MELA-AU 1 43664378 43664378 single base substitution C T intron_variant MELA-AU 1 43664458 43664458 single base substitution G A intron_variant MELA-AU 1 43664506 43664506 single base substitution C T intron_variant MELA-AU 1 43664625 43664625 single base substitution C T intron_variant MELA-AU 1 43664722 43664722 single base substitution C A intron_variant MELA-AU 1 43664727 43664727 single base substitution C T intron_variant MELA-AU 1 43664763 43664763 single base substitution G A intron_variant MELA-AU 1 43664915 43664915 single base substitution C T intron_variant MELA-AU 1 43665161 43665161 single base substitution G A 3_prime_UTR_variant MELA-AU 1 43665161 43665161 single base substitution G A missense_variant G510E 1529G>A MELA-AU 1 43665213 43665213 single base substitution G A intron_variant MELA-AU 1 43665299 43665299 single base substitution G A intron_variant MELA-AU 1 43665396 43665396 single base substitution G A intron_variant MELA-AU 1 43665479 43665479 single base substitution G A intron_variant MELA-AU 1 43665488 43665488 single base substitution C T intron_variant MELA-AU 1 43665664 43665664 single base substitution C T intron_variant MELA-AU 1 43665715 43665715 single base substitution G T intron_variant MELA-AU 1 43665978 43665978 single base substitution G A intron_variant MELA-AU 1 43666060 43666060 single base substitution C T intron_variant MELA-AU 1 43666084 43666085 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 43666109 43666109 single base substitution G A intron_variant MELA-AU 1 43666178 43666178 single base substitution G A intron_variant MELA-AU 1 43666448 43666448 single base substitution G A intron_variant MELA-AU 1 43666692 43666692 single base substitution G A intron_variant MELA-AU 1 43666705 43666705 single base substitution T G intron_variant MELA-AU 1 43666712 43666712 single base substitution C T intron_variant MELA-AU 1 43667068 43667068 single base substitution C T intron_variant MELA-AU 1 43667225 43667225 single base substitution C T intron_variant MELA-AU 1 43667409 43667409 single base substitution C T intron_variant MELA-AU 1 43667556 43667556 single base substitution G A intron_variant MELA-AU 1 43667887 43667887 single base substitution G A intron_variant MELA-AU 1 43668043 43668043 single base substitution G A intron_variant MELA-AU 1 43668106 43668106 single base substitution C T intron_variant MELA-AU 1 43668144 43668144 single base substitution C T intron_variant MELA-AU 1 43668470 43668470 single base substitution G A intron_variant MELA-AU 1 43668558 43668558 single base substitution C T intron_variant MELA-AU 1 43668593 43668593 single base substitution C T intron_variant MELA-AU 1 43668608 43668608 single base substitution G A intron_variant MELA-AU 1 43668620 43668620 single base substitution G A intron_variant MELA-AU 1 43668644 43668644 single base substitution A T intron_variant MELA-AU 1 43668872 43668872 single base substitution A G intron_variant MELA-AU 1 43669222 43669222 single base substitution C T intron_variant MELA-AU 1 43669235 43669235 single base substitution G A intron_variant MELA-AU 1 43669496 43669496 single base substitution C T intron_variant MELA-AU 1 43669802 43669802 single base substitution C T intron_variant MELA-AU 1 43669843 43669843 single base substitution G A intron_variant MELA-AU 1 43669860 43669860 single base substitution C T intron_variant MELA-AU 1 43669981 43669981 single base substitution C T intron_variant MELA-AU 1 43670052 43670052 single base substitution C T intron_variant MELA-AU 1 43670201 43670201 single base substitution C T intron_variant MELA-AU 1 43670238 43670238 single base substitution C T intron_variant MELA-AU 1 43670449 43670449 single base substitution T C intron_variant MELA-AU 1 43670456 43670456 single base substitution C T intron_variant MELA-AU 1 43670726 43670726 single base substitution C T intron_variant MELA-AU 1 43670783 43670783 single base substitution C T intron_variant MELA-AU 1 43671019 43671019 single base substitution C T intron_variant MELA-AU 1 43671526 43671526 single base substitution G A intron_variant MELA-AU 1 43671690 43671690 single base substitution C T intron_variant MELA-AU 1 43671822 43671822 single base substitution G A intron_variant MELA-AU 1 43671867 43671867 single base substitution A C intron_variant MELA-AU 1 43671900 43671900 single base substitution G T intron_variant MELA-AU 1 43672541 43672541 single base substitution G A 3_prime_UTR_variant MELA-AU 1 43672541 43672541 single base substitution G A missense_variant D565N 1693G>A MELA-AU 1 43672828 43672828 single base substitution G A intron_variant MELA-AU 1 43673215 43673215 single base substitution C T intron_variant MELA-AU 1 43673924 43673925 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 43674138 43674138 single base substitution A T intron_variant MELA-AU 1 43674187 43674187 single base substitution C T intron_variant MELA-AU 1 43674348 43674348 single base substitution G A intron_variant MELA-AU 1 43674806 43674806 single base substitution G A intron_variant MELA-AU 1 43674857 43674857 single base substitution C T intron_variant MELA-AU 1 43674865 43674865 single base substitution G A intron_variant MELA-AU 1 43675001 43675001 single base substitution C T intron_variant MELA-AU 1 43675229 43675229 single base substitution G A intron_variant MELA-AU 1 43675358 43675358 single base substitution G A intron_variant MELA-AU 1 43675513 43675513 single base substitution C T 3_prime_UTR_variant MELA-AU 1 43675513 43675513 single base substitution C T missense_variant R619C 1855C>T MELA-AU 1 43675534 43675534 single base substitution C T 3_prime_UTR_variant MELA-AU 1 43675534 43675534 single base substitution C T missense_variant P626S 1876C>T MELA-AU 1 43675604 43675604 single base substitution C T intron_variant MELA-AU 1 43675604 43675604 single base substitution C T missense_variant S649F 1946C>T MELA-AU 1 43675604 43675605 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 43675604 43675605 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant S649F 1946CC>TT MELA-AU 1 43675857 43675857 single base substitution G A 3_prime_UTR_variant MELA-AU 1 43675857 43675857 single base substitution G A downstream_gene_variant MELA-AU 1 43675857 43675857 single base substitution G A intron_variant MELA-AU 1 43675884 43675884 single base substitution G A 3_prime_UTR_variant MELA-AU 1 43675884 43675884 single base substitution G A downstream_gene_variant MELA-AU 1 43675884 43675884 single base substitution G A intron_variant MELA-AU 1 43676213 43676213 single base substitution G A 3_prime_UTR_variant MELA-AU 1 43676213 43676213 single base substitution G A downstream_gene_variant MELA-AU 1 43676213 43676213 single base substitution G A intron_variant MELA-AU 1 43676213 43676213 single base substitution G A upstream_gene_variant MELA-AU 1 43676341 43676341 single base substitution G A 3_prime_UTR_variant MELA-AU 1 43676341 43676341 single base substitution G A downstream_gene_variant MELA-AU 1 43676341 43676341 single base substitution G A intron_variant MELA-AU 1 43676341 43676341 single base substitution G A upstream_gene_variant MELA-AU 1 43676347 43676347 single base substitution G A 3_prime_UTR_variant MELA-AU 1 43676347 43676347 single base substitution G A downstream_gene_variant MELA-AU 1 43676347 43676347 single base substitution G A intron_variant MELA-AU 1 43676347 43676347 single base substitution G A upstream_gene_variant MELA-AU 1 43676572 43676572 single base substitution T G downstream_gene_variant MELA-AU 1 43676572 43676572 single base substitution T G intron_variant MELA-AU 1 43676572 43676572 single base substitution T G upstream_gene_variant MELA-AU 1 43676792 43676792 single base substitution G A downstream_gene_variant MELA-AU 1 43676792 43676792 single base substitution G A intron_variant MELA-AU 1 43676792 43676792 single base substitution G A upstream_gene_variant MELA-AU 1 43676962 43676962 single base substitution C T downstream_gene_variant MELA-AU 1 43676962 43676962 single base substitution C T intron_variant MELA-AU 1 43676962 43676962 single base substitution C T upstream_gene_variant MELA-AU 1 43676994 43676994 single base substitution C T downstream_gene_variant MELA-AU 1 43676994 43676994 single base substitution C T intron_variant MELA-AU 1 43676994 43676994 single base substitution C T upstream_gene_variant MELA-AU 1 43677301 43677301 single base substitution C T downstream_gene_variant MELA-AU 1 43677301 43677301 single base substitution C T intron_variant MELA-AU 1 43677301 43677301 single base substitution C T upstream_gene_variant MELA-AU 1 43677363 43677363 single base substitution C T downstream_gene_variant MELA-AU 1 43677363 43677363 single base substitution C T intron_variant MELA-AU 1 43677363 43677363 single base substitution C T upstream_gene_variant MELA-AU 1 43677715 43677715 single base substitution T G downstream_gene_variant MELA-AU 1 43677715 43677715 single base substitution T G intron_variant MELA-AU 1 43677715 43677715 single base substitution T G upstream_gene_variant MELA-AU 1 43677974 43677974 single base substitution C T downstream_gene_variant MELA-AU 1 43677974 43677974 single base substitution C T intron_variant MELA-AU 1 43677974 43677974 single base substitution C T upstream_gene_variant MELA-AU 1 43678032 43678032 single base substitution G A downstream_gene_variant MELA-AU 1 43678032 43678032 single base substitution G A intron_variant MELA-AU 1 43678032 43678032 single base substitution G A upstream_gene_variant MELA-AU 1 43678046 43678046 single base substitution G A downstream_gene_variant MELA-AU 1 43678046 43678046 single base substitution G A intron_variant MELA-AU 1 43678046 43678046 single base substitution G A upstream_gene_variant MELA-AU 1 43678070 43678070 single base substitution G A downstream_gene_variant MELA-AU 1 43678070 43678070 single base substitution G A intron_variant MELA-AU 1 43678070 43678070 single base substitution G A upstream_gene_variant MELA-AU 1 43678208 43678208 single base substitution G C downstream_gene_variant MELA-AU 1 43678208 43678208 single base substitution G C intron_variant MELA-AU 1 43678208 43678208 single base substitution G C upstream_gene_variant MELA-AU 1 43678388 43678388 single base substitution G A downstream_gene_variant MELA-AU 1 43678388 43678388 single base substitution G A intron_variant MELA-AU 1 43678388 43678388 single base substitution G A upstream_gene_variant MELA-AU 1 43678488 43678488 single base substitution C T downstream_gene_variant MELA-AU 1 43678488 43678488 single base substitution C T intron_variant MELA-AU 1 43678488 43678488 single base substitution C T upstream_gene_variant MELA-AU 1 43679239 43679239 single base substitution C T downstream_gene_variant MELA-AU 1 43679239 43679239 single base substitution C T intron_variant MELA-AU 1 43679239 43679239 single base substitution C T upstream_gene_variant MELA-AU 1 43679606 43679606 single base substitution G A downstream_gene_variant MELA-AU 1 43679606 43679606 single base substitution G A intron_variant MELA-AU 1 43679606 43679606 single base substitution G A upstream_gene_variant MELA-AU 1 43679642 43679642 single base substitution C T downstream_gene_variant MELA-AU 1 43679642 43679642 single base substitution C T intron_variant MELA-AU 1 43679642 43679642 single base substitution C T upstream_gene_variant MELA-AU 1 43679985 43679985 single base substitution G A downstream_gene_variant MELA-AU 1 43679985 43679985 single base substitution G A intron_variant MELA-AU 1 43679985 43679985 single base substitution G A upstream_gene_variant MELA-AU 1 43680053 43680053 single base substitution G A downstream_gene_variant MELA-AU 1 43680053 43680053 single base substitution G A intron_variant MELA-AU 1 43680053 43680053 single base substitution G A upstream_gene_variant MELA-AU 1 43680127 43680127 single base substitution C T downstream_gene_variant MELA-AU 1 43680127 43680127 single base substitution C T intron_variant MELA-AU 1 43680127 43680127 single base substitution C T upstream_gene_variant MELA-AU 1 43680153 43680153 single base substitution G T downstream_gene_variant MELA-AU 1 43680153 43680153 single base substitution G T intron_variant MELA-AU 1 43680153 43680153 single base substitution G T upstream_gene_variant MELA-AU 1 43680212 43680212 single base substitution C T downstream_gene_variant MELA-AU 1 43680212 43680212 single base substitution C T intron_variant MELA-AU 1 43680212 43680212 single base substitution C T upstream_gene_variant MELA-AU 1 43680232 43680232 single base substitution A T downstream_gene_variant MELA-AU 1 43680232 43680232 single base substitution A T intron_variant MELA-AU 1 43680232 43680232 single base substitution A T upstream_gene_variant MELA-AU 1 43680272 43680272 single base substitution G A downstream_gene_variant MELA-AU 1 43680272 43680272 single base substitution G A intron_variant MELA-AU 1 43680272 43680272 single base substitution G A upstream_gene_variant MELA-AU 1 43680553 43680553 single base substitution G A downstream_gene_variant MELA-AU 1 43680553 43680553 single base substitution G A intron_variant MELA-AU 1 43680553 43680553 single base substitution G A upstream_gene_variant MELA-AU 1 43680822 43680822 single base substitution C T downstream_gene_variant MELA-AU 1 43680822 43680822 single base substitution C T intron_variant MELA-AU 1 43680822 43680822 single base substitution C T upstream_gene_variant MELA-AU 1 43680843 43680843 single base substitution G C downstream_gene_variant MELA-AU 1 43680843 43680843 single base substitution G C intron_variant MELA-AU 1 43680843 43680843 single base substitution G C upstream_gene_variant MELA-AU 1 43681049 43681049 single base substitution G A downstream_gene_variant MELA-AU 1 43681049 43681049 single base substitution G A exon_variant MELA-AU 1 43681049 43681049 single base substitution G A missense_variant E685K 2053G>A MELA-AU 1 43681078 43681079 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 43681078 43681079 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 1 43681078 43681079 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant ME694IK MELA-AU 1 43681088 43681088 single base substitution G A downstream_gene_variant MELA-AU 1 43681088 43681088 single base substitution G A splice_donor_variant MELA-AU 1 43681162 43681162 single base substitution G A downstream_gene_variant MELA-AU 1 43681162 43681162 single base substitution G A intron_variant MELA-AU 1 43681351 43681351 single base substitution C T downstream_gene_variant MELA-AU 1 43681351 43681351 single base substitution C T intron_variant MELA-AU 1 43681389 43681389 single base substitution C T downstream_gene_variant MELA-AU 1 43681389 43681389 single base substitution C T intron_variant MELA-AU 1 43681429 43681429 single base substitution G A downstream_gene_variant MELA-AU 1 43681429 43681429 single base substitution G A intron_variant MELA-AU 1 43681513 43681513 single base substitution C T downstream_gene_variant MELA-AU 1 43681513 43681513 single base substitution C T intron_variant MELA-AU 1 43681536 43681536 single base substitution T C downstream_gene_variant MELA-AU 1 43681536 43681536 single base substitution T C intron_variant MELA-AU 1 43681774 43681774 single base substitution C T intron_variant MELA-AU 1 43681990 43681990 single base substitution A G intron_variant MELA-AU 1 43682013 43682013 single base substitution C T intron_variant MELA-AU 1 43682090 43682090 single base substitution G A intron_variant MELA-AU 1 43682333 43682333 single base substitution C T intron_variant MELA-AU 1 43682404 43682404 single base substitution C T intron_variant MELA-AU 1 43682658 43682658 single base substitution G A intron_variant MELA-AU 1 43682667 43682667 single base substitution G A intron_variant MELA-AU 1 43683220 43683220 single base substitution C T intron_variant MELA-AU 1 43683544 43683544 single base substitution C T intron_variant MELA-AU 1 43683680 43683680 single base substitution G T intron_variant MELA-AU 1 43683771 43683771 single base substitution C T intron_variant MELA-AU 1 43683973 43683973 single base substitution G A intron_variant MELA-AU 1 43684069 43684069 single base substitution G A intron_variant MELA-AU 1 43684290 43684290 single base substitution G A intron_variant MELA-AU 1 43684427 43684427 single base substitution T G intron_variant MELA-AU 1 43685036 43685036 single base substitution C T intron_variant MELA-AU 1 43685323 43685323 single base substitution C T intron_variant MELA-AU 1 43685612 43685612 single base substitution A G intron_variant MELA-AU 1 43685685 43685685 single base substitution A T intron_variant MELA-AU 1 43685986 43685986 single base substitution G A intron_variant MELA-AU 1 43686172 43686172 single base substitution G A intron_variant MELA-AU 1 43686407 43686407 single base substitution G A intron_variant MELA-AU 1 43686524 43686524 single base substitution C T intron_variant MELA-AU 1 43687066 43687066 single base substitution G A 3_prime_UTR_variant MELA-AU 1 43687066 43687066 single base substitution G A synonymous_variant K757K 2271G>A MELA-AU 1 43687170 43687170 single base substitution G T intron_variant MELA-AU 1 43687269 43687269 single base substitution C T intron_variant MELA-AU 1 43687341 43687341 single base substitution G T intron_variant MELA-AU 1 43687552 43687552 single base substitution G A intron_variant MELA-AU 1 43687891 43687891 single base substitution C T 3_prime_UTR_variant MELA-AU 1 43687891 43687891 single base substitution C T synonymous_variant T819T 2457C>T MELA-AU 1 43688189 43688189 single base substitution G A downstream_gene_variant MELA-AU 1 43688189 43688189 single base substitution G A intron_variant MELA-AU 1 43688288 43688288 single base substitution G A downstream_gene_variant MELA-AU 1 43688288 43688288 single base substitution G A intron_variant MELA-AU 1 43688289 43688289 single base substitution G A downstream_gene_variant MELA-AU 1 43688289 43688289 single base substitution G A intron_variant MELA-AU 1 43688322 43688322 single base substitution G A downstream_gene_variant MELA-AU 1 43688322 43688322 single base substitution G A intron_variant MELA-AU 1 43688455 43688455 single base substitution C T downstream_gene_variant MELA-AU 1 43688455 43688455 single base substitution C T intron_variant MELA-AU 1 43688460 43688460 single base substitution C T downstream_gene_variant MELA-AU 1 43688460 43688460 single base substitution C T intron_variant MELA-AU 1 43688615 43688615 single base substitution G A downstream_gene_variant MELA-AU 1 43688615 43688615 single base substitution G A missense_variant E885K 2653G>A MELA-AU 1 43688621 43688621 single base substitution G A downstream_gene_variant MELA-AU 1 43688621 43688621 single base substitution G A missense_variant E887K 2659G>A MELA-AU 1 43688857 43688857 single base substitution G A downstream_gene_variant MELA-AU 1 43688857 43688857 single base substitution G A intron_variant MELA-AU 1 43689044 43689044 single base substitution G A downstream_gene_variant MELA-AU 1 43689044 43689044 single base substitution G A intron_variant MELA-AU 1 43689088 43689088 single base substitution G A downstream_gene_variant MELA-AU 1 43689088 43689088 single base substitution G A intron_variant MELA-AU 1 43689177 43689177 single base substitution C T downstream_gene_variant MELA-AU 1 43689177 43689177 single base substitution C T intron_variant MELA-AU 1 43689207 43689208 multiple base substitution (>=2bp and <=200bp) TT AA downstream_gene_variant MELA-AU 1 43689207 43689208 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 1 43689210 43689210 single base substitution C T downstream_gene_variant MELA-AU 1 43689210 43689210 single base substitution C T intron_variant MELA-AU 1 43689229 43689229 single base substitution G A downstream_gene_variant MELA-AU 1 43689229 43689229 single base substitution G A intron_variant MELA-AU 1 43689489 43689489 single base substitution G A downstream_gene_variant MELA-AU 1 43689489 43689489 single base substitution G A intron_variant MELA-AU 1 43689578 43689578 single base substitution C T downstream_gene_variant MELA-AU 1 43689578 43689578 single base substitution C T intron_variant MELA-AU 1 43689638 43689638 single base substitution C A downstream_gene_variant MELA-AU 1 43689638 43689638 single base substitution C A intron_variant MELA-AU 1 43689740 43689741 multiple base substitution (>=2bp and <=200bp) TG AT downstream_gene_variant MELA-AU 1 43689740 43689741 multiple base substitution (>=2bp and <=200bp) TG AT stop_gained IE910I* MELA-AU 1 43689785 43689785 single base substitution G A downstream_gene_variant MELA-AU 1 43689785 43689785 single base substitution G A missense_variant M925I 2775G>A MELA-AU 1 43690004 43690004 single base substitution G A downstream_gene_variant MELA-AU 1 43690004 43690004 single base substitution G A intron_variant MELA-AU 1 43690012 43690012 single base substitution A T downstream_gene_variant MELA-AU 1 43690012 43690012 single base substitution A T intron_variant MELA-AU 1 43690126 43690126 single base substitution C T downstream_gene_variant MELA-AU 1 43690126 43690126 single base substitution C T intron_variant MELA-AU 1 43690624 43690624 single base substitution G A downstream_gene_variant MELA-AU 1 43690624 43690624 single base substitution G A intron_variant MELA-AU 1 43690921 43690921 single base substitution T A downstream_gene_variant MELA-AU 1 43690921 43690921 single base substitution T A intron_variant MELA-AU 1 43691224 43691224 single base substitution G A downstream_gene_variant MELA-AU 1 43691224 43691224 single base substitution G A intron_variant MELA-AU 1 43691272 43691272 single base substitution C T downstream_gene_variant MELA-AU 1 43691272 43691272 single base substitution C T intron_variant MELA-AU 1 43691330 43691330 single base substitution C G downstream_gene_variant MELA-AU 1 43691330 43691330 single base substitution C G intron_variant MELA-AU 1 43691731 43691731 single base substitution C T downstream_gene_variant MELA-AU 1 43691731 43691731 single base substitution C T intron_variant MELA-AU 1 43692216 43692216 single base substitution T A downstream_gene_variant MELA-AU 1 43692216 43692216 single base substitution T A intron_variant MELA-AU 1 43692395 43692395 single base substitution C T downstream_gene_variant MELA-AU 1 43692395 43692395 single base substitution C T intron_variant MELA-AU 1 43692611 43692611 single base substitution G C downstream_gene_variant MELA-AU 1 43692611 43692611 single base substitution G C intron_variant MELA-AU 1 43692952 43692952 single base substitution G A intron_variant MELA-AU 1 43693105 43693105 single base substitution T A intron_variant MELA-AU 1 43693117 43693117 single base substitution G A intron_variant MELA-AU 1 43693381 43693381 single base substitution C T intron_variant MELA-AU 1 43693422 43693422 single base substitution C A intron_variant MELA-AU 1 43693440 43693440 single base substitution G T intron_variant MELA-AU 1 43693538 43693538 single base substitution C T intron_variant MELA-AU 1 43693784 43693784 single base substitution C T intron_variant MELA-AU 1 43693878 43693878 single base substitution C T intron_variant MELA-AU 1 43694087 43694087 single base substitution C T intron_variant MELA-AU 1 43694111 43694111 single base substitution G A intron_variant MELA-AU 1 43694114 43694114 single base substitution A G intron_variant MELA-AU 1 43694236 43694236 single base substitution C T intron_variant MELA-AU 1 43694253 43694253 single base substitution G A intron_variant MELA-AU 1 43694308 43694308 single base substitution G A intron_variant MELA-AU 1 43694494 43694494 single base substitution A G intron_variant MELA-AU 1 43694725 43694725 single base substitution G A intron_variant MELA-AU 1 43694822 43694822 single base substitution C T intron_variant MELA-AU 1 43695052 43695052 single base substitution C T intron_variant MELA-AU 1 43695164 43695164 single base substitution G A intron_variant MELA-AU 1 43695300 43695300 single base substitution G A intron_variant MELA-AU 1 43695510 43695510 single base substitution C T intron_variant MELA-AU 1 43695638 43695638 single base substitution G A intron_variant MELA-AU 1 43696206 43696206 single base substitution C T intron_variant MELA-AU 1 43696644 43696644 single base substitution C T intron_variant MELA-AU 1 43697222 43697222 single base substitution G A intron_variant MELA-AU 1 43697246 43697246 single base substitution C T intron_variant MELA-AU 1 43697317 43697317 single base substitution G A intron_variant MELA-AU 1 43697389 43697389 single base substitution A G intron_variant MELA-AU 1 43697805 43697805 single base substitution G A intron_variant MELA-AU 1 43697921 43697921 single base substitution G A intron_variant MELA-AU 1 43698055 43698055 single base substitution G A intron_variant MELA-AU 1 43698163 43698163 single base substitution C T intron_variant MELA-AU 1 43698434 43698434 single base substitution C T intron_variant MELA-AU 1 43698521 43698521 single base substitution G A intron_variant MELA-AU 1 43698816 43698816 single base substitution G A intron_variant MELA-AU 1 43699054 43699054 single base substitution G A intron_variant MELA-AU 1 43699087 43699087 single base substitution G A intron_variant MELA-AU 1 43699372 43699372 single base substitution G A intron_variant MELA-AU 1 43699699 43699699 single base substitution G A intron_variant MELA-AU 1 43699862 43699862 single base substitution C T intron_variant MELA-AU 1 43700021 43700021 single base substitution A G synonymous_variant E1066E 3198A>G MELA-AU 1 43700107 43700107 single base substitution C T intron_variant MELA-AU 1 43700145 43700145 single base substitution G A intron_variant MELA-AU 1 43700352 43700352 single base substitution C T intron_variant MELA-AU 1 43700540 43700540 single base substitution G A intron_variant MELA-AU 1 43700821 43700821 single base substitution C T intron_variant MELA-AU 1 43700907 43700907 single base substitution C T intron_variant MELA-AU 1 43701072 43701072 single base substitution G A intron_variant MELA-AU 1 43701274 43701274 single base substitution C T intron_variant MELA-AU 1 43701379 43701379 single base substitution G A intron_variant MELA-AU 1 43701399 43701399 single base substitution G A intron_variant MELA-AU 1 43701497 43701497 single base substitution G A intron_variant MELA-AU 1 43701926 43701926 single base substitution G A intron_variant MELA-AU 1 43701928 43701928 single base substitution G A intron_variant MELA-AU 1 43701960 43701960 single base substitution C T intron_variant MELA-AU 1 43701967 43701968 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 43702119 43702119 single base substitution G A intron_variant MELA-AU 1 43702349 43702349 single base substitution G A intron_variant MELA-AU 1 43702397 43702397 single base substitution G A intron_variant MELA-AU 1 43702474 43702474 single base substitution G A intron_variant MELA-AU 1 43702536 43702536 single base substitution G A intron_variant MELA-AU 1 43702584 43702584 single base substitution C A intron_variant MELA-AU 1 43702603 43702603 single base substitution C T intron_variant MELA-AU 1 43702625 43702625 single base substitution G A intron_variant MELA-AU 1 43702942 43702942 single base substitution G A intron_variant MELA-AU 1 43703202 43703202 single base substitution G A intron_variant MELA-AU 1 43703283 43703283 single base substitution C T intron_variant MELA-AU 1 43703627 43703627 single base substitution C T intron_variant MELA-AU 1 43703920 43703920 single base substitution T G intron_variant MELA-AU 1 43704493 43704493 single base substitution G A intron_variant MELA-AU 1 43704966 43704966 single base substitution C T intron_variant MELA-AU 1 43705024 43705024 single base substitution G A intron_variant MELA-AU 1 43705128 43705128 single base substitution G A intron_variant MELA-AU 1 43705335 43705335 single base substitution G A intron_variant MELA-AU 1 43705441 43705441 single base substitution G A intron_variant MELA-AU 1 43705685 43705685 single base substitution A T intron_variant MELA-AU 1 43705700 43705700 single base substitution G A intron_variant MELA-AU 1 43705730 43705730 single base substitution G A intron_variant MELA-AU 1 43705765 43705765 single base substitution G A intron_variant MELA-AU 1 43705770 43705770 single base substitution G A intron_variant MELA-AU 1 43705779 43705779 single base substitution G A intron_variant MELA-AU 1 43706041 43706041 single base substitution C T intron_variant MELA-AU 1 43706100 43706100 single base substitution G A intron_variant MELA-AU 1 43706212 43706212 single base substitution G A intron_variant MELA-AU 1 43706263 43706263 single base substitution C T intron_variant MELA-AU 1 43706271 43706271 single base substitution G A intron_variant MELA-AU 1 43706458 43706458 single base substitution A C intron_variant MELA-AU 1 43706594 43706594 single base substitution C T intron_variant MELA-AU 1 43706841 43706841 single base substitution G A intron_variant MELA-AU 1 43707005 43707005 single base substitution G A intron_variant MELA-AU 1 43707048 43707048 single base substitution G A intron_variant MELA-AU 1 43707250 43707250 single base substitution G A intron_variant MELA-AU 1 43707325 43707325 single base substitution G A intron_variant MELA-AU 1 43707573 43707573 single base substitution C T intron_variant MELA-AU 1 43707717 43707717 single base substitution C T intron_variant MELA-AU 1 43707726 43707726 single base substitution C T intron_variant MELA-AU 1 43707844 43707844 single base substitution C T intron_variant MELA-AU 1 43707872 43707872 single base substitution G A intron_variant MELA-AU 1 43707915 43707915 single base substitution G A intron_variant MELA-AU 1 43707979 43707979 single base substitution C T intron_variant MELA-AU 1 43708124 43708124 single base substitution T A intron_variant MELA-AU 1 43708702 43708702 single base substitution G A intron_variant MELA-AU 1 43708810 43708810 single base substitution C T intron_variant MELA-AU 1 43708898 43708898 single base substitution G A missense_variant E1136K 3406G>A MELA-AU 1 43708919 43708919 single base substitution G A missense_variant E1143K 3427G>A MELA-AU 1 43708940 43708940 single base substitution G A missense_variant E1150K 3448G>A MELA-AU 1 43708955 43708955 single base substitution C T missense_variant R1155W 3463C>T MELA-AU 1 43709102 43709102 single base substitution C T intron_variant MELA-AU 1 43709128 43709128 single base substitution C T intron_variant MELA-AU 1 43709170 43709170 single base substitution C T intron_variant MELA-AU 1 43709182 43709182 single base substitution G A intron_variant MELA-AU 1 43709334 43709334 single base substitution G A intron_variant MELA-AU 1 43709485 43709485 single base substitution G A intron_variant MELA-AU 1 43709515 43709515 single base substitution G A intron_variant MELA-AU 1 43709516 43709516 single base substitution G A intron_variant MELA-AU 1 43709661 43709661 single base substitution G A intron_variant MELA-AU 1 43709677 43709677 single base substitution G A intron_variant MELA-AU 1 43709691 43709691 single base substitution C T intron_variant MELA-AU 1 43710355 43710355 single base substitution C T intron_variant MELA-AU 1 43710435 43710435 single base substitution G A intron_variant MELA-AU 1 43710511 43710511 single base substitution T C intron_variant MELA-AU 1 43710557 43710557 single base substitution G A intron_variant MELA-AU 1 43710681 43710681 single base substitution C T intron_variant MELA-AU 1 43710801 43710801 single base substitution G A intron_variant MELA-AU 1 43710863 43710863 single base substitution C T intron_variant MELA-AU 1 43710890 43710890 single base substitution G A intron_variant MELA-AU 1 43710967 43710967 single base substitution C T intron_variant MELA-AU 1 43711161 43711161 single base substitution C T intron_variant MELA-AU 1 43711362 43711362 single base substitution C T intron_variant MELA-AU 1 43711499 43711499 single base substitution G A intron_variant MELA-AU 1 43711603 43711603 single base substitution G A intron_variant MELA-AU 1 43711616 43711616 single base substitution A C intron_variant MELA-AU 1 43711673 43711673 single base substitution G A intron_variant MELA-AU 1 43711856 43711856 single base substitution C T intron_variant MELA-AU 1 43712084 43712084 single base substitution C T intron_variant MELA-AU 1 43712095 43712095 single base substitution G A intron_variant MELA-AU 1 43712127 43712127 single base substitution G A intron_variant MELA-AU 1 43712135 43712135 single base substitution G A intron_variant MELA-AU 1 43712531 43712531 single base substitution T A intron_variant MELA-AU 1 43712582 43712582 single base substitution G A intron_variant MELA-AU 1 43712604 43712604 single base substitution C T intron_variant MELA-AU 1 43712605 43712605 single base substitution C T intron_variant MELA-AU 1 43712819 43712819 single base substitution C T intron_variant MELA-AU 1 43712939 43712939 single base substitution A G intron_variant MELA-AU 1 43712945 43712945 single base substitution C T intron_variant MELA-AU 1 43713283 43713283 single base substitution C T intron_variant MELA-AU 1 43713510 43713510 single base substitution C T intron_variant MELA-AU 1 43713579 43713579 single base substitution G A intron_variant MELA-AU 1 43714226 43714226 single base substitution C T intron_variant MELA-AU 1 43714236 43714236 single base substitution C T intron_variant MELA-AU 1 43714268 43714268 single base substitution G A intron_variant MELA-AU 1 43714536 43714536 single base substitution C T intron_variant MELA-AU 1 43714539 43714539 single base substitution C T intron_variant MELA-AU 1 43714577 43714577 single base substitution G A intron_variant MELA-AU 1 43714587 43714587 single base substitution C T intron_variant MELA-AU 1 43714660 43714660 single base substitution C T intron_variant MELA-AU 1 43714688 43714688 single base substitution G A intron_variant MELA-AU 1 43715336 43715336 single base substitution G A intron_variant MELA-AU 1 43715369 43715369 single base substitution G A intron_variant MELA-AU 1 43715505 43715505 single base substitution C T intron_variant MELA-AU 1 43715565 43715565 single base substitution C T intron_variant MELA-AU 1 43715789 43715789 single base substitution T C intron_variant MELA-AU 1 43715871 43715871 single base substitution G A intron_variant MELA-AU 1 43715997 43715997 single base substitution G A intron_variant MELA-AU 1 43716397 43716397 single base substitution C T intron_variant MELA-AU 1 43716404 43716404 single base substitution G A intron_variant MELA-AU 1 43716509 43716509 single base substitution C T intron_variant MELA-AU 1 43716533 43716533 single base substitution C T intron_variant MELA-AU 1 43716589 43716589 single base substitution C T intron_variant MELA-AU 1 43716597 43716597 single base substitution G A intron_variant MELA-AU 1 43716846 43716846 single base substitution G A intron_variant MELA-AU 1 43717109 43717109 single base substitution C T intron_variant MELA-AU 1 43717135 43717135 single base substitution C T intron_variant MELA-AU 1 43717228 43717228 single base substitution G A intron_variant MELA-AU 1 43717296 43717296 single base substitution T A intron_variant MELA-AU 1 43717530 43717530 single base substitution G A intron_variant MELA-AU 1 43717669 43717669 single base substitution C T intron_variant MELA-AU 1 43717813 43717813 single base substitution G A intron_variant MELA-AU 1 43718083 43718083 single base substitution G A intron_variant MELA-AU 1 43718103 43718103 single base substitution C T intron_variant MELA-AU 1 43718111 43718111 single base substitution G A intron_variant MELA-AU 1 43718397 43718397 single base substitution G A intron_variant MELA-AU 1 43718414 43718414 single base substitution G A intron_variant MELA-AU 1 43718568 43718568 single base substitution G A intron_variant MELA-AU 1 43718600 43718611 deletion of <=200bp AGTAAAAGACAA - intron_variant MELA-AU 1 43718672 43718672 single base substitution G A intron_variant MELA-AU 1 43718713 43718713 single base substitution C T intron_variant MELA-AU 1 43718719 43718719 single base substitution T G intron_variant MELA-AU 1 43719123 43719123 single base substitution C T intron_variant MELA-AU 1 43719276 43719276 single base substitution G A intron_variant MELA-AU 1 43719327 43719327 single base substitution C T intron_variant MELA-AU 1 43719428 43719428 single base substitution T C intron_variant MELA-AU 1 43719474 43719474 single base substitution C T intron_variant MELA-AU 1 43719478 43719478 single base substitution C T intron_variant MELA-AU 1 43719517 43719517 single base substitution C T intron_variant MELA-AU 1 43719590 43719590 single base substitution G A intron_variant MELA-AU 1 43719989 43719989 single base substitution C T 3_prime_UTR_variant MELA-AU 1 43720074 43720074 single base substitution G A downstream_gene_variant MELA-AU 1 43720075 43720075 single base substitution G A downstream_gene_variant MELA-AU 1 43720133 43720134 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 43720242 43720242 single base substitution G A downstream_gene_variant MELA-AU 1 43720521 43720521 single base substitution G A downstream_gene_variant MELA-AU 1 43720572 43720572 single base substitution G A downstream_gene_variant MELA-AU 1 43720817 43720817 single base substitution A G downstream_gene_variant MELA-AU 1 43720844 43720844 single base substitution C T downstream_gene_variant MELA-AU 1 43720903 43720903 single base substitution C T downstream_gene_variant MELA-AU 1 43720995 43720995 single base substitution G A downstream_gene_variant MELA-AU 1 43721119 43721119 single base substitution C T downstream_gene_variant MELA-AU 1 43721127 43721127 single base substitution C T downstream_gene_variant MELA-AU 1 43721309 43721309 single base substitution G A downstream_gene_variant MELA-AU 1 43721473 43721473 single base substitution C T downstream_gene_variant MELA-AU 1 43721602 43721602 single base substitution G A downstream_gene_variant MELA-AU 1 43721774 43721774 single base substitution G A downstream_gene_variant MELA-AU 1 43721819 43721819 single base substitution C T downstream_gene_variant MELA-AU 1 43721917 43721917 single base substitution C T downstream_gene_variant MELA-AU 1 43721929 43721929 single base substitution C T downstream_gene_variant MELA-AU 1 43721953 43721953 single base substitution C T downstream_gene_variant MELA-AU 1 43721963 43721963 single base substitution C T downstream_gene_variant MELA-AU 1 43722033 43722033 single base substitution G A downstream_gene_variant MELA-AU 1 43722142 43722142 single base substitution C T downstream_gene_variant MELA-AU 1 43722198 43722198 single base substitution G A downstream_gene_variant MELA-AU 1 43722233 43722233 single base substitution C T downstream_gene_variant MELA-AU 1 43722318 43722318 single base substitution G A downstream_gene_variant MELA-AU 1 43722365 43722365 single base substitution G A downstream_gene_variant MELA-AU 1 43722525 43722525 single base substitution G A downstream_gene_variant MELA-AU 1 43722633 43722633 single base substitution G A downstream_gene_variant MELA-AU 1 43722681 43722681 single base substitution G A downstream_gene_variant MELA-AU 1 43722872 43722872 single base substitution G A downstream_gene_variant MELA-AU 1 43722883 43722883 single base substitution G A downstream_gene_variant MELA-AU 1 43722920 43722920 single base substitution C T downstream_gene_variant MELA-AU 1 43723144 43723144 single base substitution T G downstream_gene_variant MELA-AU 1 43723429 43723429 single base substitution G A downstream_gene_variant MELA-AU 1 43723447 43723447 single base substitution G A downstream_gene_variant MELA-AU 1 43723492 43723492 single base substitution C T downstream_gene_variant MELA-AU 1 43723494 43723494 single base substitution C T downstream_gene_variant MELA-AU 1 43723509 43723509 single base substitution C A downstream_gene_variant MELA-AU 1 43723509 43723509 single base substitution C T downstream_gene_variant MELA-AU 1 43723753 43723753 single base substitution G A downstream_gene_variant MELA-AU 1 43723847 43723847 single base substitution C T downstream_gene_variant MELA-AU 1 43724110 43724110 single base substitution C T downstream_gene_variant MELA-AU 1 43724120 43724120 single base substitution G A downstream_gene_variant MELA-AU 1 43724170 43724170 single base substitution A T downstream_gene_variant MELA-AU 1 43724182 43724182 single base substitution C T downstream_gene_variant MELA-AU 1 43724196 43724196 single base substitution G A downstream_gene_variant MELA-AU 1 43724350 43724350 single base substitution G A downstream_gene_variant MELA-AU 1 43724470 43724470 single base substitution G A downstream_gene_variant MELA-AU 1 43724516 43724516 single base substitution C T downstream_gene_variant MELA-AU 1 43724692 43724693 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 43724759 43724759 single base substitution G A downstream_gene_variant MELA-AU 1 43724765 43724765 single base substitution C T downstream_gene_variant MELA-AU 1 43724896 43724896 single base substitution G A downstream_gene_variant ORCA-IN 1 43659126 43659126 single base substitution A G intron_variant ORCA-IN 1 43659755 43659755 single base substitution C T intron_variant ORCA-IN 1 43672523 43672524 deletion of <=200bp TG - 3_prime_UTR_variant ORCA-IN 1 43672523 43672524 deletion of <=200bp TG - frameshift_variant C559 ORCA-IN 1 43709026 43709026 single base substitution G A synonymous_variant E1178E 3534G>A OV-AU 1 43640420 43640420 single base substitution G C intron_variant OV-AU 1 43640428 43640428 single base substitution G T intron_variant OV-AU 1 43641027 43641027 single base substitution A T intron_variant OV-AU 1 43642257 43642257 single base substitution C A intron_variant OV-AU 1 43642682 43642682 single base substitution G A intron_variant OV-AU 1 43643342 43643342 single base substitution G A intron_variant OV-AU 1 43646002 43646002 single base substitution G T intron_variant OV-AU 1 43646002 43646002 single base substitution G T upstream_gene_variant OV-AU 1 43646179 43646179 single base substitution T C intron_variant OV-AU 1 43646179 43646179 single base substitution T C upstream_gene_variant OV-AU 1 43654190 43654190 single base substitution C T downstream_gene_variant OV-AU 1 43654190 43654190 single base substitution C T intron_variant OV-AU 1 43662214 43662214 single base substitution T C intron_variant OV-AU 1 43663523 43663523 single base substitution T C intron_variant OV-AU 1 43671489 43671489 single base substitution G A intron_variant OV-AU 1 43672257 43672257 single base substitution C G intron_variant OV-AU 1 43684055 43684055 single base substitution G C intron_variant OV-AU 1 43687710 43687710 single base substitution G T intron_variant OV-AU 1 43696563 43696563 single base substitution T C intron_variant OV-AU 1 43697751 43697751 single base substitution A G intron_variant OV-AU 1 43701317 43701317 single base substitution C A intron_variant OV-AU 1 43707697 43707697 single base substitution G A intron_variant OV-AU 1 43708131 43708131 single base substitution G C intron_variant OV-AU 1 43723794 43723794 single base substitution G C downstream_gene_variant PACA-AU 1 43633381 43633381 single base substitution C A upstream_gene_variant PACA-AU 1 43634970 43634970 single base substitution A G upstream_gene_variant PACA-AU 1 43640933 43640933 single base substitution C T intron_variant PACA-AU 1 43649322 43649322 single base substitution C T 3_prime_UTR_variant PACA-AU 1 43649322 43649322 single base substitution C T downstream_gene_variant PACA-AU 1 43649322 43649322 single base substitution C T missense_variant L179F 535C>T PACA-AU 1 43649322 43649322 single base substitution C T upstream_gene_variant PACA-AU 1 43656034 43656034 single base substitution C T downstream_gene_variant PACA-AU 1 43656034 43656034 single base substitution C T intron_variant PACA-AU 1 43656230 43656230 single base substitution C T downstream_gene_variant PACA-AU 1 43656230 43656230 single base substitution C T intron_variant PACA-AU 1 43658968 43658968 deletion of <=200bp T - intron_variant PACA-AU 1 43662586 43662586 single base substitution G A intron_variant PACA-AU 1 43666658 43666658 single base substitution G T intron_variant PACA-AU 1 43672043 43672043 single base substitution C G intron_variant PACA-AU 1 43673752 43673752 single base substitution A G intron_variant PACA-AU 1 43675102 43675102 single base substitution G C intron_variant PACA-AU 1 43680925 43680925 single base substitution G A downstream_gene_variant PACA-AU 1 43680925 43680925 single base substitution G A splice_acceptor_variant PACA-AU 1 43680925 43680925 single base substitution G A upstream_gene_variant PACA-AU 1 43688239 43688239 single base substitution G T downstream_gene_variant PACA-AU 1 43688239 43688239 single base substitution G T intron_variant PACA-AU 1 43693042 43693042 single base substitution C T intron_variant PACA-AU 1 43701413 43701413 single base substitution G A intron_variant PACA-AU 1 43705016 43705016 single base substitution A T intron_variant PACA-AU 1 43718950 43718950 single base substitution A G intron_variant PACA-AU 1 43720773 43720773 single base substitution A G downstream_gene_variant PACA-AU 1 43722523 43722523 single base substitution A C downstream_gene_variant PACA-CA 1 43636905 43636905 single base substitution G T upstream_gene_variant PACA-CA 1 43639844 43639844 insertion of <=200bp - AT intron_variant PACA-CA 1 43646323 43646323 single base substitution A G intron_variant PACA-CA 1 43646323 43646323 single base substitution A G upstream_gene_variant PACA-CA 1 43646639 43646639 single base substitution C A intron_variant PACA-CA 1 43646639 43646639 single base substitution C A upstream_gene_variant PACA-CA 1 43649949 43649949 single base substitution G A downstream_gene_variant PACA-CA 1 43649949 43649949 single base substitution G A intron_variant PACA-CA 1 43649949 43649949 single base substitution G A upstream_gene_variant PACA-CA 1 43650567 43650567 single base substitution A G downstream_gene_variant PACA-CA 1 43650567 43650567 single base substitution A G exon_variant PACA-CA 1 43650567 43650567 single base substitution A G intron_variant PACA-CA 1 43653898 43653898 single base substitution T A downstream_gene_variant PACA-CA 1 43653898 43653898 single base substitution T A intron_variant PACA-CA 1 43658968 43658968 deletion of <=200bp T - intron_variant PACA-CA 1 43660785 43660785 single base substitution C T intron_variant PACA-CA 1 43664029 43664029 single base substitution A T intron_variant PACA-CA 1 43664277 43664277 single base substitution T A 3_prime_UTR_variant PACA-CA 1 43664277 43664277 single base substitution T A missense_variant I463K 1388T>A PACA-CA 1 43668498 43668498 single base substitution C T intron_variant PACA-CA 1 43670668 43670668 single base substitution G C intron_variant PACA-CA 1 43671867 43671867 single base substitution A G intron_variant PACA-CA 1 43673352 43673352 single base substitution T C intron_variant PACA-CA 1 43675170 43675170 single base substitution C T intron_variant PACA-CA 1 43677838 43677838 single base substitution C T downstream_gene_variant PACA-CA 1 43677838 43677838 single base substitution C T intron_variant PACA-CA 1 43677838 43677838 single base substitution C T upstream_gene_variant PACA-CA 1 43690229 43690229 single base substitution G A downstream_gene_variant PACA-CA 1 43690229 43690229 single base substitution G A intron_variant PACA-CA 1 43690633 43690633 single base substitution C T downstream_gene_variant PACA-CA 1 43690633 43690633 single base substitution C T intron_variant PACA-CA 1 43691277 43691277 single base substitution A G downstream_gene_variant PACA-CA 1 43691277 43691277 single base substitution A G intron_variant PACA-CA 1 43691841 43691841 single base substitution T C downstream_gene_variant PACA-CA 1 43691841 43691841 single base substitution T C intron_variant PACA-CA 1 43698204 43698204 single base substitution A G missense_variant H1012R 3035A>G PACA-CA 1 43699345 43699345 single base substitution C T intron_variant PACA-CA 1 43700842 43700842 single base substitution C A intron_variant PACA-CA 1 43702363 43702363 single base substitution G A intron_variant PACA-CA 1 43702379 43702379 single base substitution G A intron_variant PACA-CA 1 43709970 43709970 single base substitution G A intron_variant PACA-CA 1 43714227 43714227 single base substitution G A intron_variant PACA-CA 1 43724158 43724158 single base substitution A T downstream_gene_variant PAEN-AU 1 43635055 43635055 single base substitution A C upstream_gene_variant PAEN-IT 1 43649165 43649165 single base substitution G T downstream_gene_variant PAEN-IT 1 43649165 43649165 single base substitution G T intron_variant PAEN-IT 1 43649165 43649165 single base substitution G T upstream_gene_variant PAEN-IT 1 43656036 43656036 single base substitution G T downstream_gene_variant PAEN-IT 1 43656036 43656036 single base substitution G T intron_variant PBCA-DE 1 43633972 43633972 single base substitution C T upstream_gene_variant PBCA-DE 1 43647494 43647494 single base substitution C T 3_prime_UTR_variant PBCA-DE 1 43647494 43647494 single base substitution C T downstream_gene_variant PBCA-DE 1 43647494 43647494 single base substitution C T synonymous_variant I149I 447C>T PBCA-DE 1 43647494 43647494 single base substitution C T upstream_gene_variant PBCA-DE 1 43655487 43655487 single base substitution C A downstream_gene_variant PBCA-DE 1 43655487 43655487 single base substitution C A intron_variant PBCA-DE 1 43658442 43658442 deletion of <=200bp A - intron_variant PBCA-DE 1 43658600 43658600 insertion of <=200bp - A intron_variant PBCA-DE 1 43671478 43671478 single base substitution C T intron_variant PBCA-DE 1 43672846 43672846 single base substitution C T intron_variant PBCA-DE 1 43675557 43675557 single base substitution G T 3_prime_UTR_variant PBCA-DE 1 43675557 43675557 single base substitution G T missense_variant E633D 1899G>T PBCA-DE 1 43687003 43687003 deletion of <=200bp A - intron_variant PBCA-DE 1 43687927 43687927 single base substitution C T 3_prime_UTR_variant PBCA-DE 1 43687927 43687927 single base substitution C T synonymous_variant Y831Y 2493C>T PBCA-DE 1 43709781 43709781 single base substitution G A intron_variant PBCA-DE 1 43713331 43713331 single base substitution C T intron_variant PBCA-DE 1 43718894 43718894 single base substitution G A intron_variant PRAD-CA 1 43642310 43642310 single base substitution T A intron_variant PRAD-CA 1 43648285 43648285 single base substitution G A downstream_gene_variant PRAD-CA 1 43648285 43648285 single base substitution G A intron_variant PRAD-CA 1 43648285 43648285 single base substitution G A upstream_gene_variant PRAD-CA 1 43649958 43649958 single base substitution A G downstream_gene_variant PRAD-CA 1 43649958 43649958 single base substitution A G intron_variant PRAD-CA 1 43649958 43649958 single base substitution A G upstream_gene_variant PRAD-CA 1 43663790 43663790 single base substitution C T intron_variant PRAD-CA 1 43683727 43683727 single base substitution T C intron_variant PRAD-UK 1 43640781 43640781 insertion of <=200bp - T intron_variant PRAD-UK 1 43651007 43651007 single base substitution C T 3_prime_UTR_variant PRAD-UK 1 43651007 43651007 single base substitution C T downstream_gene_variant PRAD-UK 1 43651007 43651007 single base substitution C T exon_variant PRAD-UK 1 43651007 43651007 single base substitution C T missense_variant R317C 949C>T PRAD-UK 1 43661372 43661372 single base substitution A T intron_variant PRAD-UK 1 43665968 43665968 single base substitution G A intron_variant PRAD-UK 1 43671937 43671937 single base substitution A C intron_variant PRAD-UK 1 43672606 43672606 single base substitution G A splice_region_variant PRAD-UK 1 43707331 43707331 single base substitution C T intron_variant PRAD-UK 1 43709412 43709412 single base substitution C T intron_variant READ-US 1 43636446 43636446 single base substitution G T upstream_gene_variant READ-US 1 43647494 43647494 single base substitution C T 3_prime_UTR_variant READ-US 1 43647494 43647494 single base substitution C T downstream_gene_variant READ-US 1 43647494 43647494 single base substitution C T synonymous_variant I149I 447C>T READ-US 1 43647494 43647494 single base substitution C T upstream_gene_variant READ-US 1 43675499 43675499 single base substitution C T 3_prime_UTR_variant READ-US 1 43675499 43675499 single base substitution C T missense_variant S614L 1841C>T READ-US 1 43675577 43675577 single base substitution C A 3_prime_UTR_variant READ-US 1 43675577 43675577 single base substitution C A missense_variant P640H 1919C>A RECA-EU 1 43651469 43651469 single base substitution G T downstream_gene_variant RECA-EU 1 43651469 43651469 single base substitution G T intron_variant RECA-EU 1 43662373 43662373 single base substitution C A intron_variant RECA-EU 1 43663591 43663591 single base substitution T C intron_variant RECA-EU 1 43664857 43664857 single base substitution G T intron_variant RECA-EU 1 43666594 43666594 single base substitution A C intron_variant RECA-EU 1 43672808 43672808 single base substitution T C intron_variant RECA-EU 1 43675052 43675052 single base substitution T G intron_variant RECA-EU 1 43679784 43679784 single base substitution T G downstream_gene_variant RECA-EU 1 43679784 43679784 single base substitution T G intron_variant RECA-EU 1 43679784 43679784 single base substitution T G upstream_gene_variant RECA-EU 1 43681605 43681605 single base substitution G A intron_variant RECA-EU 1 43708071 43708071 single base substitution T C intron_variant RECA-EU 1 43721582 43721582 single base substitution C T downstream_gene_variant SKCA-BR 1 43636514 43636514 single base substitution T G upstream_gene_variant SKCA-BR 1 43637327 43637327 single base substitution G A upstream_gene_variant SKCA-BR 1 43640379 43640379 single base substitution C T intron_variant SKCA-BR 1 43641490 43641491 deletion of <=200bp GT - intron_variant SKCA-BR 1 43641528 43641528 single base substitution C T intron_variant SKCA-BR 1 43643855 43643855 single base substitution C T intron_variant SKCA-BR 1 43644579 43644579 single base substitution G A intron_variant SKCA-BR 1 43645366 43645366 single base substitution A C intron_variant SKCA-BR 1 43645638 43645638 single base substitution G A intron_variant SKCA-BR 1 43645638 43645638 single base substitution G A upstream_gene_variant SKCA-BR 1 43645794 43645794 single base substitution C T intron_variant SKCA-BR 1 43645794 43645794 single base substitution C T upstream_gene_variant SKCA-BR 1 43645811 43645811 single base substitution T A intron_variant SKCA-BR 1 43645811 43645811 single base substitution T A upstream_gene_variant SKCA-BR 1 43647253 43647253 single base substitution G C 3_prime_UTR_variant SKCA-BR 1 43647253 43647253 single base substitution G C missense_variant R69P 206G>C SKCA-BR 1 43647253 43647253 single base substitution G C upstream_gene_variant SKCA-BR 1 43647345 43647345 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 43647345 43647345 single base substitution C T missense_variant L100F 298C>T SKCA-BR 1 43647345 43647345 single base substitution C T upstream_gene_variant SKCA-BR 1 43647671 43647671 single base substitution C T downstream_gene_variant SKCA-BR 1 43647671 43647671 single base substitution C T intron_variant SKCA-BR 1 43647671 43647671 single base substitution C T upstream_gene_variant SKCA-BR 1 43649129 43649129 single base substitution A C downstream_gene_variant SKCA-BR 1 43649129 43649129 single base substitution A C intron_variant SKCA-BR 1 43649129 43649129 single base substitution A C upstream_gene_variant SKCA-BR 1 43649371 43649371 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 43649371 43649371 single base substitution G A downstream_gene_variant SKCA-BR 1 43649371 43649371 single base substitution G A missense_variant G195E 584G>A SKCA-BR 1 43649371 43649371 single base substitution G A upstream_gene_variant SKCA-BR 1 43651941 43651941 single base substitution G A downstream_gene_variant SKCA-BR 1 43651941 43651941 single base substitution G A intron_variant SKCA-BR 1 43652281 43652282 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 1 43652281 43652282 deletion of <=200bp CA - intron_variant SKCA-BR 1 43652433 43652433 single base substitution T C 3_prime_UTR_variant SKCA-BR 1 43652433 43652433 single base substitution T C downstream_gene_variant SKCA-BR 1 43652433 43652433 single base substitution T C exon_variant SKCA-BR 1 43652433 43652433 single base substitution T C missense_variant L342P 1025T>C SKCA-BR 1 43652643 43652643 single base substitution C T downstream_gene_variant SKCA-BR 1 43652643 43652643 single base substitution C T intron_variant SKCA-BR 1 43654965 43654965 single base substitution C T downstream_gene_variant SKCA-BR 1 43654965 43654965 single base substitution C T intron_variant SKCA-BR 1 43655125 43655125 single base substitution C T downstream_gene_variant SKCA-BR 1 43655125 43655125 single base substitution C T intron_variant SKCA-BR 1 43655811 43655811 single base substitution G A downstream_gene_variant SKCA-BR 1 43655811 43655811 single base substitution G A intron_variant SKCA-BR 1 43656124 43656124 single base substitution G A downstream_gene_variant SKCA-BR 1 43656124 43656124 single base substitution G A intron_variant SKCA-BR 1 43656876 43656876 single base substitution G A downstream_gene_variant SKCA-BR 1 43656876 43656876 single base substitution G A intron_variant SKCA-BR 1 43658120 43658120 single base substitution C T intron_variant SKCA-BR 1 43658414 43658414 single base substitution G C intron_variant SKCA-BR 1 43658599 43658599 insertion of <=200bp - CA intron_variant SKCA-BR 1 43658648 43658648 single base substitution C T intron_variant SKCA-BR 1 43659993 43659993 single base substitution G A intron_variant SKCA-BR 1 43662291 43662291 single base substitution G A intron_variant SKCA-BR 1 43664119 43664119 single base substitution A G intron_variant SKCA-BR 1 43665303 43665303 single base substitution G A intron_variant SKCA-BR 1 43665930 43665930 single base substitution G A intron_variant SKCA-BR 1 43666158 43666158 insertion of <=200bp - GA intron_variant SKCA-BR 1 43670624 43670624 single base substitution C A intron_variant SKCA-BR 1 43670811 43670811 single base substitution C T intron_variant SKCA-BR 1 43671953 43671954 deletion of <=200bp AT - intron_variant SKCA-BR 1 43675282 43675282 single base substitution G A intron_variant SKCA-BR 1 43676148 43676148 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 43676148 43676148 single base substitution G A downstream_gene_variant SKCA-BR 1 43676148 43676148 single base substitution G A intron_variant SKCA-BR 1 43676148 43676148 single base substitution G A upstream_gene_variant SKCA-BR 1 43676962 43676962 single base substitution C T downstream_gene_variant SKCA-BR 1 43676962 43676962 single base substitution C T intron_variant SKCA-BR 1 43676962 43676962 single base substitution C T upstream_gene_variant SKCA-BR 1 43677246 43677246 insertion of <=200bp - CAAA downstream_gene_variant SKCA-BR 1 43677246 43677246 insertion of <=200bp - CAAA intron_variant SKCA-BR 1 43677246 43677246 insertion of <=200bp - CAAA upstream_gene_variant SKCA-BR 1 43677278 43677278 single base substitution T G downstream_gene_variant SKCA-BR 1 43677278 43677278 single base substitution T G intron_variant SKCA-BR 1 43677278 43677278 single base substitution T G upstream_gene_variant SKCA-BR 1 43677879 43677879 single base substitution C T downstream_gene_variant SKCA-BR 1 43677879 43677879 single base substitution C T intron_variant SKCA-BR 1 43677879 43677879 single base substitution C T upstream_gene_variant SKCA-BR 1 43678600 43678600 single base substitution C A downstream_gene_variant SKCA-BR 1 43678600 43678600 single base substitution C A intron_variant SKCA-BR 1 43678600 43678600 single base substitution C A upstream_gene_variant SKCA-BR 1 43679174 43679174 insertion of <=200bp - TG downstream_gene_variant SKCA-BR 1 43679174 43679174 insertion of <=200bp - TG intron_variant SKCA-BR 1 43679174 43679174 insertion of <=200bp - TG upstream_gene_variant SKCA-BR 1 43681682 43681682 single base substitution C T intron_variant SKCA-BR 1 43682017 43682017 single base substitution T C intron_variant SKCA-BR 1 43683469 43683469 single base substitution C T intron_variant SKCA-BR 1 43684018 43684018 single base substitution C T intron_variant SKCA-BR 1 43685923 43685923 single base substitution G A intron_variant SKCA-BR 1 43687269 43687269 single base substitution C T intron_variant SKCA-BR 1 43687961 43687961 single base substitution G A downstream_gene_variant SKCA-BR 1 43687961 43687961 single base substitution G A missense_variant E843K 2527G>A SKCA-BR 1 43688323 43688323 single base substitution G A downstream_gene_variant SKCA-BR 1 43688323 43688323 single base substitution G A intron_variant SKCA-BR 1 43688808 43688808 single base substitution A C downstream_gene_variant SKCA-BR 1 43688808 43688808 single base substitution A C intron_variant SKCA-BR 1 43689048 43689048 single base substitution G A downstream_gene_variant SKCA-BR 1 43689048 43689048 single base substitution G A intron_variant SKCA-BR 1 43689484 43689484 single base substitution G A downstream_gene_variant SKCA-BR 1 43689484 43689484 single base substitution G A intron_variant SKCA-BR 1 43689785 43689785 single base substitution G A downstream_gene_variant SKCA-BR 1 43689785 43689785 single base substitution G A missense_variant M925I 2775G>A SKCA-BR 1 43695638 43695638 single base substitution G A intron_variant SKCA-BR 1 43697370 43697371 deletion of <=200bp CA - intron_variant SKCA-BR 1 43697389 43697389 insertion of <=200bp - AAAG intron_variant SKCA-BR 1 43697968 43697968 single base substitution G A intron_variant SKCA-BR 1 43698521 43698521 single base substitution G A intron_variant SKCA-BR 1 43700590 43700590 single base substitution C T intron_variant SKCA-BR 1 43700861 43700861 single base substitution C T intron_variant SKCA-BR 1 43701018 43701018 single base substitution G A intron_variant SKCA-BR 1 43702583 43702583 insertion of <=200bp - CA intron_variant SKCA-BR 1 43702987 43702987 single base substitution G A intron_variant SKCA-BR 1 43705770 43705770 single base substitution G A intron_variant SKCA-BR 1 43706027 43706027 single base substitution C T intron_variant SKCA-BR 1 43707105 43707105 single base substitution C T intron_variant SKCA-BR 1 43710018 43710018 single base substitution G A intron_variant SKCA-BR 1 43710366 43710366 single base substitution G A intron_variant SKCA-BR 1 43710699 43710699 single base substitution G A intron_variant SKCA-BR 1 43710700 43710700 single base substitution G A intron_variant SKCA-BR 1 43712094 43712094 single base substitution G A intron_variant SKCA-BR 1 43714719 43714719 insertion of <=200bp - AT intron_variant SKCA-BR 1 43714722 43714722 insertion of <=200bp - TA intron_variant SKCA-BR 1 43716588 43716588 insertion of <=200bp - TG intron_variant SKCA-BR 1 43716717 43716717 single base substitution T A intron_variant SKCA-BR 1 43716739 43716739 single base substitution T G intron_variant SKCA-BR 1 43716994 43716994 single base substitution G A intron_variant SKCA-BR 1 43717281 43717281 single base substitution G A intron_variant SKCA-BR 1 43719760 43719760 single base substitution G A synonymous_variant Q1217Q 3651G>A SKCA-BR 1 43721465 43721465 single base substitution G A downstream_gene_variant SKCA-BR 1 43722690 43722690 single base substitution G A downstream_gene_variant SKCM-US 1 43632897 43632897 single base substitution C T upstream_gene_variant SKCM-US 1 43636489 43636489 single base substitution G A upstream_gene_variant SKCM-US 1 43647265 43647265 deletion of <=200bp C - 3_prime_UTR_variant SKCM-US 1 43647265 43647265 deletion of <=200bp C - frameshift_variant A73 SKCM-US 1 43647265 43647265 deletion of <=200bp C - upstream_gene_variant SKCM-US 1 43647397 43647397 single base substitution C T 3_prime_UTR_variant SKCM-US 1 43647397 43647397 single base substitution C T downstream_gene_variant SKCM-US 1 43647397 43647397 single base substitution C T missense_variant P117L 350C>T SKCM-US 1 43647397 43647397 single base substitution C T upstream_gene_variant SKCM-US 1 43647461 43647461 single base substitution G A 3_prime_UTR_variant SKCM-US 1 43647461 43647461 single base substitution G A downstream_gene_variant SKCM-US 1 43647461 43647461 single base substitution G A stop_gained W138* 414G>A SKCM-US 1 43647461 43647461 single base substitution G A upstream_gene_variant SKCM-US 1 43649261 43649261 single base substitution G A downstream_gene_variant SKCM-US 1 43649261 43649261 single base substitution G A splice_acceptor_variant SKCM-US 1 43649261 43649261 single base substitution G A upstream_gene_variant SKCM-US 1 43649275 43649275 single base substitution C T 3_prime_UTR_variant SKCM-US 1 43649275 43649275 single base substitution C T downstream_gene_variant SKCM-US 1 43649275 43649275 single base substitution C T missense_variant P163L 488C>T SKCM-US 1 43649275 43649275 single base substitution C T upstream_gene_variant SKCM-US 1 43649316 43649316 single base substitution T C 3_prime_UTR_variant SKCM-US 1 43649316 43649316 single base substitution T C downstream_gene_variant SKCM-US 1 43649316 43649316 single base substitution T C missense_variant F177L 529T>C SKCM-US 1 43649316 43649316 single base substitution T C upstream_gene_variant SKCM-US 1 43649360 43649360 single base substitution C T 3_prime_UTR_variant SKCM-US 1 43649360 43649360 single base substitution C T downstream_gene_variant SKCM-US 1 43649360 43649360 single base substitution C T synonymous_variant S191S 573C>T SKCM-US 1 43649360 43649360 single base substitution C T upstream_gene_variant SKCM-US 1 43649366 43649366 single base substitution G A 3_prime_UTR_variant SKCM-US 1 43649366 43649366 single base substitution G A downstream_gene_variant SKCM-US 1 43649366 43649366 single base substitution G A synonymous_variant Q193Q 579G>A SKCM-US 1 43649366 43649366 single base substitution G A upstream_gene_variant SKCM-US 1 43651027 43651027 single base substitution G A downstream_gene_variant SKCM-US 1 43651027 43651027 single base substitution G A splice_region_variant SKCM-US 1 43652381 43652381 single base substitution C T 3_prime_UTR_variant SKCM-US 1 43652381 43652381 single base substitution C T downstream_gene_variant SKCM-US 1 43652381 43652381 single base substitution C T exon_variant SKCM-US 1 43652381 43652381 single base substitution C T missense_variant P325S 973C>T SKCM-US 1 43652402 43652402 single base substitution G A 3_prime_UTR_variant SKCM-US 1 43652402 43652402 single base substitution G A downstream_gene_variant SKCM-US 1 43652402 43652402 single base substitution G A exon_variant SKCM-US 1 43652402 43652402 single base substitution G A missense_variant D332N 994G>A SKCM-US 1 43652459 43652459 single base substitution G A 3_prime_UTR_variant SKCM-US 1 43652459 43652459 single base substitution G A downstream_gene_variant SKCM-US 1 43652459 43652459 single base substitution G A missense_variant E351K 1051G>A SKCM-US 1 43663223 43663223 single base substitution G A splice_acceptor_variant SKCM-US 1 43663257 43663257 single base substitution C T 3_prime_UTR_variant SKCM-US 1 43663257 43663257 single base substitution C T missense_variant P386S 1156C>T SKCM-US 1 43664180 43664180 single base substitution G A 3_prime_UTR_variant SKCM-US 1 43664180 43664180 single base substitution G A missense_variant E431K 1291G>A SKCM-US 1 43664298 43664298 single base substitution C T 3_prime_UTR_variant SKCM-US 1 43664298 43664298 single base substitution C T missense_variant S470F 1409C>T SKCM-US 1 43665161 43665161 single base substitution G A 3_prime_UTR_variant SKCM-US 1 43665161 43665161 single base substitution G A missense_variant G510E 1529G>A SKCM-US 1 43672527 43672527 single base substitution T C 3_prime_UTR_variant SKCM-US 1 43672527 43672527 single base substitution T C missense_variant V560A 1679T>C SKCM-US 1 43675430 43675430 single base substitution C T 3_prime_UTR_variant SKCM-US 1 43675430 43675430 single base substitution C T missense_variant S591L 1772C>T SKCM-US 1 43675472 43675472 single base substitution C T 3_prime_UTR_variant SKCM-US 1 43675472 43675472 single base substitution C T missense_variant S605F 1814C>T SKCM-US 1 43675545 43675545 single base substitution G C 3_prime_UTR_variant SKCM-US 1 43675545 43675545 single base substitution G C missense_variant K629N 1887G>C SKCM-US 1 43675567 43675567 single base substitution C T 3_prime_UTR_variant SKCM-US 1 43675567 43675567 single base substitution C T missense_variant H637Y 1909C>T SKCM-US 1 43675583 43675583 single base substitution C T 3_prime_UTR_variant SKCM-US 1 43675583 43675583 single base substitution C T missense_variant T642I 1925C>T STAD-US 1 43634619 43634619 single base substitution G A upstream_gene_variant STAD-US 1 43634636 43634636 single base substitution G A upstream_gene_variant STAD-US 1 43636531 43636531 single base substitution C T upstream_gene_variant STAD-US 1 43647224 43647224 single base substitution C T 3_prime_UTR_variant STAD-US 1 43647224 43647224 single base substitution C T synonymous_variant G59G 177C>T STAD-US 1 43647224 43647224 single base substitution C T upstream_gene_variant STAD-US 1 43647330 43647330 single base substitution C T 3_prime_UTR_variant STAD-US 1 43647330 43647330 single base substitution C T missense_variant R95W 283C>T STAD-US 1 43647330 43647330 single base substitution C T upstream_gene_variant STAD-US 1 43647389 43647389 single base substitution T G 3_prime_UTR_variant STAD-US 1 43647389 43647389 single base substitution T G downstream_gene_variant STAD-US 1 43647389 43647389 single base substitution T G synonymous_variant A114A 342T>G STAD-US 1 43647389 43647389 single base substitution T G upstream_gene_variant STAD-US 1 43649306 43649306 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 1 43649306 43649306 deletion of <=200bp A - downstream_gene_variant STAD-US 1 43649306 43649306 deletion of <=200bp A - frameshift_variant G173 STAD-US 1 43649306 43649306 deletion of <=200bp A - upstream_gene_variant STAD-US 1 43652399 43652399 single base substitution A G 3_prime_UTR_variant STAD-US 1 43652399 43652399 single base substitution A G downstream_gene_variant STAD-US 1 43652399 43652399 single base substitution A G exon_variant STAD-US 1 43652399 43652399 single base substitution A G missense_variant N331D 991A>G STAD-US 1 43664312 43664312 single base substitution G A 3_prime_UTR_variant STAD-US 1 43664312 43664312 single base substitution G A missense_variant G475R 1423G>A STAD-US 1 43675514 43675514 single base substitution G A 3_prime_UTR_variant STAD-US 1 43675514 43675514 single base substitution G A missense_variant R619H 1856G>A UCEC-US 1 43634651 43634651 single base substitution T G upstream_gene_variant UCEC-US 1 43636441 43636441 single base substitution G T upstream_gene_variant UCEC-US 1 43638459 43638459 single base substitution T G exon_variant UCEC-US 1 43638459 43638459 single base substitution T G missense_variant F12C 35T>G UCEC-US 1 43638490 43638490 single base substitution C A exon_variant UCEC-US 1 43638490 43638490 single base substitution C A synonymous_variant I22I 66C>A UCEC-US 1 43638511 43638511 single base substitution C A exon_variant UCEC-US 1 43638511 43638511 single base substitution C A synonymous_variant I29I 87C>A UCEC-US 1 43647257 43647257 single base substitution G A 3_prime_UTR_variant UCEC-US 1 43647257 43647257 single base substitution G A synonymous_variant R70R 210G>A UCEC-US 1 43647257 43647257 single base substitution G A upstream_gene_variant UCEC-US 1 43647376 43647376 single base substitution T G 3_prime_UTR_variant UCEC-US 1 43647376 43647376 single base substitution T G downstream_gene_variant UCEC-US 1 43647376 43647376 single base substitution T G missense_variant F110C 329T>G UCEC-US 1 43647376 43647376 single base substitution T G upstream_gene_variant UCEC-US 1 43647494 43647494 single base substitution C T 3_prime_UTR_variant UCEC-US 1 43647494 43647494 single base substitution C T downstream_gene_variant UCEC-US 1 43647494 43647494 single base substitution C T synonymous_variant I149I 447C>T UCEC-US 1 43647494 43647494 single base substitution C T upstream_gene_variant UCEC-US 1 43649453 43649453 single base substitution C A 3_prime_UTR_variant UCEC-US 1 43649453 43649453 single base substitution C A downstream_gene_variant UCEC-US 1 43649453 43649453 single base substitution C A synonymous_variant L222L 666C>A UCEC-US 1 43649453 43649453 single base substitution C A upstream_gene_variant UCEC-US 1 43650971 43650971 single base substitution C A 3_prime_UTR_variant UCEC-US 1 43650971 43650971 single base substitution C A downstream_gene_variant UCEC-US 1 43650971 43650971 single base substitution C A exon_variant UCEC-US 1 43650971 43650971 single base substitution C A missense_variant L305M 913C>A UCEC-US 1 43652429 43652429 single base substitution G A 3_prime_UTR_variant UCEC-US 1 43652429 43652429 single base substitution G A downstream_gene_variant UCEC-US 1 43652429 43652429 single base substitution G A exon_variant UCEC-US 1 43652429 43652429 single base substitution G A missense_variant V341I 1021G>A UCEC-US 1 43665147 43665147 single base substitution C T 3_prime_UTR_variant UCEC-US 1 43665147 43665147 single base substitution C T synonymous_variant I505I 1515C>T UCEC-US 1 43672498 43672498 single base substitution C T 3_prime_UTR_variant UCEC-US 1 43672498 43672498 single base substitution C T synonymous_variant C550C 1650C>T UCEC-US 1 43675431 43675431 single base substitution G A 3_prime_UTR_variant UCEC-US 1 43675431 43675431 single base substitution G A synonymous_variant S591S 1773G>A UCEC-US 1 43675696 43675696 single base substitution T G intron_variant UCEC-US 1 43675696 43675696 single base substitution T G missense_variant L680V 2038T>G