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 12 46320471 46320471 single base substitution G C downstream_gene_variant BLCA-CN 12 46320471 46320471 single base substitution G C exon_variant BLCA-CN 12 46320471 46320471 single base substitution G C missense_variant L1005V 3013C>G BLCA-CN 12 46320471 46320471 single base substitution G C missense_variant L690V 2068C>G BLCA-CN 12 46320471 46320471 single base substitution G C missense_variant L813V 2437C>G BLCA-CN 12 46320471 46320471 single base substitution G C upstream_gene_variant BLCA-US 12 46318787 46318787 single base substitution C T downstream_gene_variant BLCA-US 12 46318787 46318787 single base substitution C T exon_variant BLCA-US 12 46318787 46318787 single base substitution C T synonymous_variant P1018P 3054G>A BLCA-US 12 46318787 46318787 single base substitution C T synonymous_variant P1210P 3630G>A BLCA-US 12 46318787 46318787 single base substitution C T synonymous_variant P895P 2685G>A BLCA-US 12 46318787 46318787 single base substitution C T upstream_gene_variant BLCA-US 12 46320089 46320089 single base substitution G A downstream_gene_variant BLCA-US 12 46320089 46320089 single base substitution G A exon_variant BLCA-US 12 46320089 46320089 single base substitution G A missense_variant S1132L 3395C>T BLCA-US 12 46320089 46320089 single base substitution G A missense_variant S817L 2450C>T BLCA-US 12 46320089 46320089 single base substitution G A missense_variant S940L 2819C>T BLCA-US 12 46320089 46320089 single base substitution G A upstream_gene_variant BLCA-US 12 46342235 46342235 single base substitution G C downstream_gene_variant BLCA-US 12 46342235 46342235 single base substitution G C exon_variant BLCA-US 12 46342235 46342235 single base substitution G C missense_variant S128C 383C>G BRCA-EU 12 46308245 46308245 single base substitution G A downstream_gene_variant BRCA-EU 12 46309089 46309089 single base substitution G A downstream_gene_variant BRCA-EU 12 46309505 46309505 single base substitution T A downstream_gene_variant BRCA-EU 12 46309827 46309827 single base substitution C T downstream_gene_variant BRCA-EU 12 46310889 46310889 single base substitution G T downstream_gene_variant BRCA-EU 12 46312083 46312083 single base substitution C T downstream_gene_variant BRCA-EU 12 46314393 46314393 single base substitution A G downstream_gene_variant BRCA-EU 12 46314393 46314393 single base substitution A G intron_variant BRCA-EU 12 46315218 46315218 single base substitution C A 3_prime_UTR_variant BRCA-EU 12 46315218 46315218 single base substitution C A downstream_gene_variant BRCA-EU 12 46315218 46315218 single base substitution C A intron_variant BRCA-EU 12 46316493 46316493 insertion of <=200bp - AA downstream_gene_variant BRCA-EU 12 46316493 46316493 insertion of <=200bp - AA intron_variant BRCA-EU 12 46319157 46319157 single base substitution G A downstream_gene_variant BRCA-EU 12 46319157 46319157 single base substitution G A intron_variant BRCA-EU 12 46319157 46319157 single base substitution G A upstream_gene_variant BRCA-EU 12 46319205 46319205 single base substitution G A downstream_gene_variant BRCA-EU 12 46319205 46319205 single base substitution G A intron_variant BRCA-EU 12 46319205 46319205 single base substitution G A upstream_gene_variant BRCA-EU 12 46319352 46319352 single base substitution C T downstream_gene_variant BRCA-EU 12 46319352 46319352 single base substitution C T intron_variant BRCA-EU 12 46319352 46319352 single base substitution C T upstream_gene_variant BRCA-EU 12 46319734 46319734 single base substitution T C downstream_gene_variant BRCA-EU 12 46319734 46319734 single base substitution T C intron_variant BRCA-EU 12 46319734 46319734 single base substitution T C upstream_gene_variant BRCA-EU 12 46322529 46322529 single base substitution G C downstream_gene_variant BRCA-EU 12 46322529 46322529 single base substitution G C exon_variant BRCA-EU 12 46322529 46322529 single base substitution G C missense_variant P127A 379C>G BRCA-EU 12 46322529 46322529 single base substitution G C missense_variant P319A 955C>G BRCA-EU 12 46322529 46322529 single base substitution G C missense_variant P4A 10C>G BRCA-EU 12 46322529 46322529 single base substitution G C upstream_gene_variant BRCA-EU 12 46323290 46323290 single base substitution C A 5_prime_UTR_variant BRCA-EU 12 46323290 46323290 single base substitution C A downstream_gene_variant BRCA-EU 12 46323290 46323290 single base substitution C A intron_variant BRCA-EU 12 46323290 46323290 single base substitution C A upstream_gene_variant BRCA-EU 12 46324040 46324040 single base substitution C G downstream_gene_variant BRCA-EU 12 46324040 46324040 single base substitution C G intron_variant BRCA-EU 12 46324040 46324040 single base substitution C G upstream_gene_variant BRCA-EU 12 46324084 46324084 single base substitution C G downstream_gene_variant BRCA-EU 12 46324084 46324084 single base substitution C G intron_variant BRCA-EU 12 46324084 46324084 single base substitution C G upstream_gene_variant BRCA-EU 12 46326141 46326141 single base substitution G C intron_variant BRCA-EU 12 46326141 46326141 single base substitution G C upstream_gene_variant BRCA-EU 12 46326169 46326169 single base substitution G A intron_variant BRCA-EU 12 46326169 46326169 single base substitution G A upstream_gene_variant BRCA-EU 12 46327366 46327366 single base substitution G C intron_variant BRCA-EU 12 46327366 46327366 single base substitution G C upstream_gene_variant BRCA-EU 12 46327824 46327824 deletion of <=200bp A - intron_variant BRCA-EU 12 46327824 46327824 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 46328390 46328390 single base substitution G C intron_variant BRCA-EU 12 46328390 46328390 single base substitution G C upstream_gene_variant BRCA-EU 12 46329233 46329233 single base substitution G A intron_variant BRCA-EU 12 46329233 46329233 single base substitution G A upstream_gene_variant BRCA-EU 12 46330831 46330831 insertion of <=200bp - T intron_variant BRCA-EU 12 46330831 46330831 insertion of <=200bp - T upstream_gene_variant BRCA-EU 12 46331695 46331695 single base substitution G C intron_variant BRCA-EU 12 46331695 46331695 single base substitution G C upstream_gene_variant BRCA-EU 12 46332463 46332463 single base substitution C T intron_variant BRCA-EU 12 46332463 46332463 single base substitution C T upstream_gene_variant BRCA-EU 12 46332625 46332625 single base substitution A C intron_variant BRCA-EU 12 46332625 46332625 single base substitution A C upstream_gene_variant BRCA-EU 12 46332691 46332691 single base substitution A G intron_variant BRCA-EU 12 46332691 46332691 single base substitution A G upstream_gene_variant BRCA-EU 12 46334003 46334003 single base substitution G A downstream_gene_variant BRCA-EU 12 46334003 46334003 single base substitution G A intron_variant BRCA-EU 12 46334763 46334763 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 46334763 46334763 deletion of <=200bp T - intron_variant BRCA-EU 12 46335794 46335794 single base substitution G A downstream_gene_variant BRCA-EU 12 46335794 46335794 single base substitution G A intron_variant BRCA-EU 12 46336989 46336989 single base substitution A T downstream_gene_variant BRCA-EU 12 46336989 46336989 single base substitution A T intron_variant BRCA-EU 12 46338993 46338993 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 46338993 46338993 deletion of <=200bp A - exon_variant BRCA-EU 12 46338993 46338993 deletion of <=200bp A - intron_variant BRCA-EU 12 46339196 46339196 single base substitution T A downstream_gene_variant BRCA-EU 12 46339196 46339196 single base substitution T A intron_variant BRCA-EU 12 46340029 46340029 single base substitution G C downstream_gene_variant BRCA-EU 12 46340029 46340029 single base substitution G C intron_variant BRCA-EU 12 46340173 46340173 single base substitution T G downstream_gene_variant BRCA-EU 12 46340173 46340173 single base substitution T G intron_variant BRCA-EU 12 46341387 46341387 single base substitution G A downstream_gene_variant BRCA-EU 12 46341387 46341387 single base substitution G A intron_variant BRCA-EU 12 46342894 46342894 single base substitution G C intron_variant BRCA-EU 12 46342894 46342894 single base substitution G C upstream_gene_variant BRCA-EU 12 46343328 46343328 single base substitution G C intron_variant BRCA-EU 12 46343328 46343328 single base substitution G C upstream_gene_variant BRCA-EU 12 46343890 46343890 single base substitution T C downstream_gene_variant BRCA-EU 12 46343890 46343890 single base substitution T C intron_variant BRCA-EU 12 46343890 46343890 single base substitution T C upstream_gene_variant BRCA-EU 12 46343984 46343984 single base substitution G C downstream_gene_variant BRCA-EU 12 46343984 46343984 single base substitution G C intron_variant BRCA-EU 12 46343984 46343984 single base substitution G C upstream_gene_variant BRCA-EU 12 46344340 46344340 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 46344340 46344340 deletion of <=200bp A - intron_variant BRCA-EU 12 46344340 46344340 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 46345116 46345116 single base substitution G C downstream_gene_variant BRCA-EU 12 46345116 46345116 single base substitution G C intron_variant BRCA-EU 12 46345116 46345116 single base substitution G C upstream_gene_variant BRCA-EU 12 46345738 46345738 single base substitution C T downstream_gene_variant BRCA-EU 12 46345738 46345738 single base substitution C T intron_variant BRCA-EU 12 46345738 46345738 single base substitution C T upstream_gene_variant BRCA-EU 12 46346301 46346301 single base substitution C G downstream_gene_variant BRCA-EU 12 46346301 46346301 single base substitution C G intron_variant BRCA-EU 12 46346301 46346301 single base substitution C G upstream_gene_variant BRCA-EU 12 46346417 46346417 single base substitution C T downstream_gene_variant BRCA-EU 12 46346417 46346417 single base substitution C T intron_variant BRCA-EU 12 46346417 46346417 single base substitution C T upstream_gene_variant BRCA-EU 12 46347469 46347470 deletion of <=200bp TT - downstream_gene_variant BRCA-EU 12 46347469 46347470 deletion of <=200bp TT - intron_variant BRCA-EU 12 46347613 46347613 single base substitution C T downstream_gene_variant BRCA-EU 12 46347613 46347613 single base substitution C T intron_variant BRCA-EU 12 46347916 46347916 single base substitution C G downstream_gene_variant BRCA-EU 12 46347916 46347916 single base substitution C G intron_variant BRCA-EU 12 46348438 46348438 single base substitution G A downstream_gene_variant BRCA-EU 12 46348438 46348438 single base substitution G A intron_variant BRCA-EU 12 46350288 46350288 single base substitution C T downstream_gene_variant BRCA-EU 12 46350288 46350288 single base substitution C T intron_variant BRCA-EU 12 46351686 46351686 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 46351686 46351686 deletion of <=200bp T - intron_variant BRCA-EU 12 46352204 46352206 deletion of <=200bp GAT - downstream_gene_variant BRCA-EU 12 46352204 46352206 deletion of <=200bp GAT - intron_variant BRCA-EU 12 46353506 46353506 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 46353506 46353506 deletion of <=200bp T - intron_variant BRCA-EU 12 46354529 46354529 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 46354529 46354529 single base substitution C T downstream_gene_variant BRCA-EU 12 46354529 46354529 single base substitution C T intron_variant BRCA-EU 12 46354541 46354541 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 46354541 46354541 single base substitution C T downstream_gene_variant BRCA-EU 12 46354541 46354541 single base substitution C T intron_variant BRCA-EU 12 46355832 46355832 deletion of <=200bp G - intron_variant BRCA-EU 12 46357206 46357206 deletion of <=200bp A - intron_variant BRCA-EU 12 46357241 46357241 deletion of <=200bp A - intron_variant BRCA-EU 12 46359866 46359866 single base substitution C G intron_variant BRCA-EU 12 46360485 46360485 single base substitution A G intron_variant BRCA-EU 12 46361256 46361256 single base substitution G T intron_variant BRCA-EU 12 46363454 46363454 deletion of <=200bp A - intron_variant BRCA-EU 12 46363975 46363975 single base substitution C T intron_variant BRCA-EU 12 46367757 46367757 single base substitution T C intron_variant BRCA-EU 12 46368667 46368667 single base substitution C A 5_prime_UTR_variant BRCA-EU 12 46368667 46368667 single base substitution C A intron_variant BRCA-EU 12 46370575 46370575 deletion of <=200bp A - intron_variant BRCA-EU 12 46371732 46371732 single base substitution T C intron_variant BRCA-EU 12 46372681 46372681 insertion of <=200bp - AAAC intron_variant BRCA-EU 12 46375249 46375249 single base substitution G C intron_variant BRCA-EU 12 46376662 46376662 single base substitution G C intron_variant BRCA-EU 12 46376790 46376790 deletion of <=200bp T - intron_variant BRCA-EU 12 46376828 46376828 single base substitution G C intron_variant BRCA-EU 12 46381005 46381005 single base substitution G A intron_variant BRCA-EU 12 46381904 46381904 single base substitution C T intron_variant BRCA-EU 12 46382221 46382221 single base substitution C A intron_variant BRCA-EU 12 46382899 46382899 single base substitution G A intron_variant BRCA-EU 12 46386112 46386112 single base substitution G T upstream_gene_variant BRCA-EU 12 46387138 46387138 single base substitution C T upstream_gene_variant BRCA-EU 12 46387577 46387577 deletion of <=200bp G - upstream_gene_variant BRCA-EU 12 46387793 46387793 single base substitution A T upstream_gene_variant BRCA-EU 12 46388601 46388601 single base substitution G A upstream_gene_variant BRCA-EU 12 46389585 46389585 single base substitution G C upstream_gene_variant BRCA-EU 12 46389673 46389673 single base substitution G A upstream_gene_variant BRCA-EU 12 46389775 46389775 deletion of <=200bp T - upstream_gene_variant BRCA-FR 12 46317121 46317121 single base substitution G A downstream_gene_variant BRCA-FR 12 46317121 46317121 single base substitution G A intron_variant BRCA-FR 12 46317121 46317121 single base substitution G A upstream_gene_variant BRCA-FR 12 46331695 46331695 single base substitution G C intron_variant BRCA-FR 12 46331695 46331695 single base substitution G C upstream_gene_variant BRCA-FR 12 46334003 46334003 single base substitution G A downstream_gene_variant BRCA-FR 12 46334003 46334003 single base substitution G A intron_variant BRCA-FR 12 46343984 46343984 single base substitution G C downstream_gene_variant BRCA-FR 12 46343984 46343984 single base substitution G C intron_variant BRCA-FR 12 46343984 46343984 single base substitution G C upstream_gene_variant BRCA-FR 12 46345116 46345116 single base substitution G C downstream_gene_variant BRCA-FR 12 46345116 46345116 single base substitution G C intron_variant BRCA-FR 12 46345116 46345116 single base substitution G C upstream_gene_variant BRCA-FR 12 46345738 46345738 single base substitution C T downstream_gene_variant BRCA-FR 12 46345738 46345738 single base substitution C T intron_variant BRCA-FR 12 46345738 46345738 single base substitution C T upstream_gene_variant BRCA-FR 12 46346301 46346301 single base substitution C G downstream_gene_variant BRCA-FR 12 46346301 46346301 single base substitution C G intron_variant BRCA-FR 12 46346301 46346301 single base substitution C G upstream_gene_variant BRCA-FR 12 46346417 46346417 single base substitution C T downstream_gene_variant BRCA-FR 12 46346417 46346417 single base substitution C T intron_variant BRCA-FR 12 46346417 46346417 single base substitution C T upstream_gene_variant BRCA-FR 12 46376828 46376828 single base substitution G C intron_variant BRCA-FR 12 46382899 46382899 single base substitution G A intron_variant BRCA-FR 12 46385555 46385555 single base substitution G A intron_variant BRCA-FR 12 46385555 46385555 single base substitution G A upstream_gene_variant BRCA-FR 12 46388601 46388601 single base substitution G A upstream_gene_variant BRCA-FR 12 46389673 46389673 single base substitution G A upstream_gene_variant BRCA-UK 12 46364441 46364441 single base substitution C G intron_variant BRCA-UK 12 46373447 46373447 single base substitution C G intron_variant BRCA-US 12 46320516 46320516 insertion of <=200bp - T downstream_gene_variant BRCA-US 12 46320516 46320516 insertion of <=200bp - T exon_variant BRCA-US 12 46320516 46320516 insertion of <=200bp - T frameshift_variant E675E? BRCA-US 12 46320516 46320516 insertion of <=200bp - T frameshift_variant E798E? BRCA-US 12 46320516 46320516 insertion of <=200bp - T frameshift_variant E990E? BRCA-US 12 46320516 46320516 insertion of <=200bp - T upstream_gene_variant BRCA-US 12 46320764 46320764 single base substitution G A downstream_gene_variant BRCA-US 12 46320764 46320764 single base substitution G A exon_variant BRCA-US 12 46320764 46320764 single base substitution G A missense_variant S592F 1775C>T BRCA-US 12 46320764 46320764 single base substitution G A missense_variant S715F 2144C>T BRCA-US 12 46320764 46320764 single base substitution G A missense_variant S907F 2720C>T BRCA-US 12 46320764 46320764 single base substitution G A upstream_gene_variant BRCA-US 12 46320776 46320776 single base substitution G A downstream_gene_variant BRCA-US 12 46320776 46320776 single base substitution G A exon_variant BRCA-US 12 46320776 46320776 single base substitution G A missense_variant P588L 1763C>T BRCA-US 12 46320776 46320776 single base substitution G A missense_variant P711L 2132C>T BRCA-US 12 46320776 46320776 single base substitution G A missense_variant P903L 2708C>T BRCA-US 12 46320776 46320776 single base substitution G A upstream_gene_variant BRCA-US 12 46321241 46321241 single base substitution G A downstream_gene_variant BRCA-US 12 46321241 46321241 single base substitution G A exon_variant BRCA-US 12 46321241 46321241 single base substitution G A missense_variant S433F 1298C>T BRCA-US 12 46321241 46321241 single base substitution G A missense_variant S556F 1667C>T BRCA-US 12 46321241 46321241 single base substitution G A missense_variant S748F 2243C>T BRCA-US 12 46321241 46321241 single base substitution G A upstream_gene_variant BRCA-US 12 46321650 46321650 single base substitution C A downstream_gene_variant BRCA-US 12 46321650 46321650 single base substitution C A exon_variant BRCA-US 12 46321650 46321650 single base substitution C A stop_gained E297* 889G>T BRCA-US 12 46321650 46321650 single base substitution C A stop_gained E420* 1258G>T BRCA-US 12 46321650 46321650 single base substitution C A stop_gained E612* 1834G>T BRCA-US 12 46321650 46321650 single base substitution C A upstream_gene_variant BTCA-JP 12 46315951 46315951 single base substitution T G downstream_gene_variant BTCA-JP 12 46315951 46315951 single base substitution T G intron_variant BTCA-JP 12 46315951 46315951 single base substitution T G synonymous_variant V1109V 3327A>C BTCA-JP 12 46315951 46315951 single base substitution T G synonymous_variant V1232V 3696A>C BTCA-JP 12 46315951 46315951 single base substitution T G synonymous_variant V1424V 4272A>C BTCA-JP 12 46316742 46316742 single base substitution C T downstream_gene_variant BTCA-JP 12 46316742 46316742 single base substitution C T exon_variant BTCA-JP 12 46316742 46316742 single base substitution C T intron_variant BTCA-JP 12 46316742 46316742 single base substitution C T missense_variant A1053T 3157G>A BTCA-JP 12 46316742 46316742 single base substitution C T missense_variant A1176T 3526G>A BTCA-JP 12 46316742 46316742 single base substitution C T missense_variant A1368T 4102G>A BTCA-JP 12 46338993 46338993 deletion of <=200bp A - downstream_gene_variant BTCA-JP 12 46338993 46338993 deletion of <=200bp A - exon_variant BTCA-JP 12 46338993 46338993 deletion of <=200bp A - intron_variant BTCA-JP 12 46367903 46367903 single base substitution T C intron_variant BTCA-JP 12 46367939 46367939 single base substitution G T intron_variant BTCA-JP 12 46385661 46385661 single base substitution G C intron_variant BTCA-JP 12 46385661 46385661 single base substitution G C upstream_gene_variant BTCA-JP 12 46385815 46385815 single base substitution C T 5_prime_UTR_variant BTCA-JP 12 46385815 46385815 single base substitution C T upstream_gene_variant CESC-US 12 46320408 46320408 single base substitution C T downstream_gene_variant CESC-US 12 46320408 46320408 single base substitution C T exon_variant CESC-US 12 46320408 46320408 single base substitution C T missense_variant E1026K 3076G>A CESC-US 12 46320408 46320408 single base substitution C T missense_variant E711K 2131G>A CESC-US 12 46320408 46320408 single base substitution C T missense_variant E834K 2500G>A CESC-US 12 46320408 46320408 single base substitution C T upstream_gene_variant CESC-US 12 46320695 46320695 single base substitution C T downstream_gene_variant CESC-US 12 46320695 46320695 single base substitution C T exon_variant CESC-US 12 46320695 46320695 single base substitution C T missense_variant R615K 1844G>A CESC-US 12 46320695 46320695 single base substitution C T missense_variant R738K 2213G>A CESC-US 12 46320695 46320695 single base substitution C T missense_variant R930K 2789G>A CESC-US 12 46320695 46320695 single base substitution C T upstream_gene_variant CESC-US 12 46322156 46322156 single base substitution G A downstream_gene_variant CESC-US 12 46322156 46322156 single base substitution G A exon_variant CESC-US 12 46322156 46322156 single base substitution G A missense_variant S128F 383C>T CESC-US 12 46322156 46322156 single base substitution G A missense_variant S251F 752C>T CESC-US 12 46322156 46322156 single base substitution G A missense_variant S443F 1328C>T CESC-US 12 46322156 46322156 single base substitution G A upstream_gene_variant CLLE-ES 12 46389252 46389252 single base substitution A G upstream_gene_variant COAD-US 12 46315876 46315876 single base substitution C A downstream_gene_variant COAD-US 12 46315876 46315876 single base substitution C A intron_variant COAD-US 12 46315876 46315876 single base substitution C A missense_variant K1134N 3402G>T COAD-US 12 46315876 46315876 single base substitution C A missense_variant K1257N 3771G>T COAD-US 12 46315876 46315876 single base substitution C A missense_variant K1449N 4347G>T COAD-US 12 46315878 46315878 single base substitution T G downstream_gene_variant COAD-US 12 46315878 46315878 single base substitution T G intron_variant COAD-US 12 46315878 46315878 single base substitution T G missense_variant K1134Q 3400A>C COAD-US 12 46315878 46315878 single base substitution T G missense_variant K1257Q 3769A>C COAD-US 12 46315878 46315878 single base substitution T G missense_variant K1449Q 4345A>C COAD-US 12 46315920 46315920 single base substitution C T downstream_gene_variant COAD-US 12 46315920 46315920 single base substitution C T intron_variant COAD-US 12 46315920 46315920 single base substitution C T missense_variant A1120T 3358G>A COAD-US 12 46315920 46315920 single base substitution C T missense_variant A1243T 3727G>A COAD-US 12 46315920 46315920 single base substitution C T missense_variant A1435T 4303G>A COAD-US 12 46316724 46316724 single base substitution C A downstream_gene_variant COAD-US 12 46316724 46316724 single base substitution C A exon_variant COAD-US 12 46316724 46316724 single base substitution C A intron_variant COAD-US 12 46316724 46316724 single base substitution C A missense_variant D1059Y 3175G>T COAD-US 12 46316724 46316724 single base substitution C A missense_variant D1182Y 3544G>T COAD-US 12 46316724 46316724 single base substitution C A missense_variant D1374Y 4120G>T COAD-US 12 46316742 46316742 single base substitution C T downstream_gene_variant COAD-US 12 46316742 46316742 single base substitution C T exon_variant COAD-US 12 46316742 46316742 single base substitution C T intron_variant COAD-US 12 46316742 46316742 single base substitution C T missense_variant A1053T 3157G>A COAD-US 12 46316742 46316742 single base substitution C T missense_variant A1176T 3526G>A COAD-US 12 46316742 46316742 single base substitution C T missense_variant A1368T 4102G>A COAD-US 12 46316772 46316772 single base substitution T G downstream_gene_variant COAD-US 12 46316772 46316772 single base substitution T G exon_variant COAD-US 12 46316772 46316772 single base substitution T G missense_variant S1043R 3127A>C COAD-US 12 46316772 46316772 single base substitution T G missense_variant S1166R 3496A>C COAD-US 12 46316772 46316772 single base substitution T G missense_variant S1358R 4072A>C COAD-US 12 46316863 46316863 single base substitution T C downstream_gene_variant COAD-US 12 46316863 46316863 single base substitution T C exon_variant COAD-US 12 46316863 46316863 single base substitution T C synonymous_variant G1012G 3036A>G COAD-US 12 46316863 46316863 single base substitution T C synonymous_variant G1135G 3405A>G COAD-US 12 46316863 46316863 single base substitution T C synonymous_variant G1327G 3981A>G COAD-US 12 46320302 46320302 single base substitution T G downstream_gene_variant COAD-US 12 46320302 46320302 single base substitution T G exon_variant COAD-US 12 46320302 46320302 single base substitution T G missense_variant K1061T 3182A>C COAD-US 12 46320302 46320302 single base substitution T G missense_variant K746T 2237A>C COAD-US 12 46320302 46320302 single base substitution T G missense_variant K869T 2606A>C COAD-US 12 46320302 46320302 single base substitution T G upstream_gene_variant COAD-US 12 46320482 46320482 deletion of <=200bp T - downstream_gene_variant COAD-US 12 46320482 46320482 deletion of <=200bp T - exon_variant COAD-US 12 46320482 46320482 deletion of <=200bp T - frameshift_variant N1001 COAD-US 12 46320482 46320482 deletion of <=200bp T - frameshift_variant N686 COAD-US 12 46320482 46320482 deletion of <=200bp T - frameshift_variant N809 COAD-US 12 46320482 46320482 deletion of <=200bp T - upstream_gene_variant COAD-US 12 46320890 46320890 single base substitution C T downstream_gene_variant COAD-US 12 46320890 46320890 single base substitution C T exon_variant COAD-US 12 46320890 46320890 single base substitution C T missense_variant R550Q 1649G>A COAD-US 12 46320890 46320890 single base substitution C T missense_variant R673Q 2018G>A COAD-US 12 46320890 46320890 single base substitution C T missense_variant R865Q 2594G>A COAD-US 12 46320890 46320890 single base substitution C T upstream_gene_variant COAD-US 12 46320944 46320944 single base substitution C T downstream_gene_variant COAD-US 12 46320944 46320944 single base substitution C T exon_variant COAD-US 12 46320944 46320944 single base substitution C T missense_variant R532H 1595G>A COAD-US 12 46320944 46320944 single base substitution C T missense_variant R655H 1964G>A COAD-US 12 46320944 46320944 single base substitution C T missense_variant R847H 2540G>A COAD-US 12 46320944 46320944 single base substitution C T upstream_gene_variant COAD-US 12 46321423 46321423 single base substitution C T downstream_gene_variant COAD-US 12 46321423 46321423 single base substitution C T exon_variant COAD-US 12 46321423 46321423 single base substitution C T synonymous_variant S372S 1116G>A COAD-US 12 46321423 46321423 single base substitution C T synonymous_variant S495S 1485G>A COAD-US 12 46321423 46321423 single base substitution C T synonymous_variant S687S 2061G>A COAD-US 12 46321423 46321423 single base substitution C T upstream_gene_variant COAD-US 12 46321514 46321514 single base substitution A T downstream_gene_variant COAD-US 12 46321514 46321514 single base substitution A T exon_variant COAD-US 12 46321514 46321514 single base substitution A T missense_variant F342Y 1025T>A COAD-US 12 46321514 46321514 single base substitution A T missense_variant F465Y 1394T>A COAD-US 12 46321514 46321514 single base substitution A T missense_variant F657Y 1970T>A COAD-US 12 46321514 46321514 single base substitution A T upstream_gene_variant COAD-US 12 46321680 46321680 deletion of <=200bp T - downstream_gene_variant COAD-US 12 46321680 46321680 deletion of <=200bp T - exon_variant COAD-US 12 46321680 46321680 deletion of <=200bp T - frameshift_variant T287 COAD-US 12 46321680 46321680 deletion of <=200bp T - frameshift_variant T410 COAD-US 12 46321680 46321680 deletion of <=200bp T - frameshift_variant T602 COAD-US 12 46321680 46321680 deletion of <=200bp T - upstream_gene_variant COAD-US 12 46321724 46321725 deletion of <=200bp CT - downstream_gene_variant COAD-US 12 46321724 46321725 deletion of <=200bp CT - exon_variant COAD-US 12 46321724 46321725 deletion of <=200bp CT - frameshift_variant S272 COAD-US 12 46321724 46321725 deletion of <=200bp CT - frameshift_variant S395 COAD-US 12 46321724 46321725 deletion of <=200bp CT - frameshift_variant S587 COAD-US 12 46321724 46321725 deletion of <=200bp CT - upstream_gene_variant COAD-US 12 46322448 46322448 single base substitution A T downstream_gene_variant COAD-US 12 46322448 46322448 single base substitution A T exon_variant COAD-US 12 46322448 46322448 single base substitution A T missense_variant C154S 460T>A COAD-US 12 46322448 46322448 single base substitution A T missense_variant C31S 91T>A COAD-US 12 46322448 46322448 single base substitution A T missense_variant C346S 1036T>A COAD-US 12 46322448 46322448 single base substitution A T upstream_gene_variant COAD-US 12 46322449 46322449 single base substitution C T downstream_gene_variant COAD-US 12 46322449 46322449 single base substitution C T exon_variant COAD-US 12 46322449 46322449 single base substitution C T synonymous_variant G153G 459G>A COAD-US 12 46322449 46322449 single base substitution C T synonymous_variant G30G 90G>A COAD-US 12 46322449 46322449 single base substitution C T synonymous_variant G345G 1035G>A COAD-US 12 46322449 46322449 single base substitution C T upstream_gene_variant COAD-US 12 46325319 46325319 insertion of <=200bp - A exon_variant COAD-US 12 46325319 46325319 insertion of <=200bp - A frameshift_variant P271L? COAD-US 12 46325319 46325319 insertion of <=200bp - A frameshift_variant P79L? COAD-US 12 46325319 46325319 insertion of <=200bp - A upstream_gene_variant COAD-US 12 46342305 46342305 insertion of <=200bp - T downstream_gene_variant COAD-US 12 46342305 46342305 insertion of <=200bp - T exon_variant COAD-US 12 46342305 46342305 insertion of <=200bp - T frameshift_variant Q105Q? COAD-US 12 46357888 46357888 single base substitution A G splice_donor_variant COCA-CN 12 46309502 46309502 single base substitution A G downstream_gene_variant COCA-CN 12 46315876 46315876 single base substitution C A downstream_gene_variant COCA-CN 12 46315876 46315876 single base substitution C A intron_variant COCA-CN 12 46315876 46315876 single base substitution C A missense_variant K1134N 3402G>T COCA-CN 12 46315876 46315876 single base substitution C A missense_variant K1257N 3771G>T COCA-CN 12 46315876 46315876 single base substitution C A missense_variant K1449N 4347G>T COCA-CN 12 46316990 46316990 single base substitution C A downstream_gene_variant COCA-CN 12 46316990 46316990 single base substitution C A intron_variant COCA-CN 12 46316990 46316990 single base substitution C A upstream_gene_variant COCA-CN 12 46319795 46319795 single base substitution T G downstream_gene_variant COCA-CN 12 46319795 46319795 single base substitution T G intron_variant COCA-CN 12 46319795 46319795 single base substitution T G upstream_gene_variant COCA-CN 12 46319898 46319898 single base substitution A G downstream_gene_variant COCA-CN 12 46319898 46319898 single base substitution A G intron_variant COCA-CN 12 46319898 46319898 single base substitution A G upstream_gene_variant COCA-CN 12 46320912 46320912 single base substitution C A downstream_gene_variant COCA-CN 12 46320912 46320912 single base substitution C A exon_variant COCA-CN 12 46320912 46320912 single base substitution C A stop_gained E543* 1627G>T COCA-CN 12 46320912 46320912 single base substitution C A stop_gained E666* 1996G>T COCA-CN 12 46320912 46320912 single base substitution C A stop_gained E858* 2572G>T COCA-CN 12 46320912 46320912 single base substitution C A upstream_gene_variant COCA-CN 12 46321954 46321954 single base substitution C A downstream_gene_variant COCA-CN 12 46321954 46321954 single base substitution C A exon_variant COCA-CN 12 46321954 46321954 single base substitution C A missense_variant E195D 585G>T COCA-CN 12 46321954 46321954 single base substitution C A missense_variant E318D 954G>T COCA-CN 12 46321954 46321954 single base substitution C A missense_variant E510D 1530G>T COCA-CN 12 46321954 46321954 single base substitution C A upstream_gene_variant COCA-CN 12 46322236 46322236 single base substitution T C downstream_gene_variant COCA-CN 12 46322236 46322236 single base substitution T C exon_variant COCA-CN 12 46322236 46322236 single base substitution T C synonymous_variant S101S 303A>G COCA-CN 12 46322236 46322236 single base substitution T C synonymous_variant S224S 672A>G COCA-CN 12 46322236 46322236 single base substitution T C synonymous_variant S416S 1248A>G COCA-CN 12 46322236 46322236 single base substitution T C upstream_gene_variant COCA-CN 12 46328106 46328106 single base substitution A C intron_variant COCA-CN 12 46328106 46328106 single base substitution A C upstream_gene_variant COCA-CN 12 46345372 46345372 single base substitution C T downstream_gene_variant COCA-CN 12 46345372 46345372 single base substitution C T intron_variant COCA-CN 12 46345372 46345372 single base substitution C T upstream_gene_variant COCA-CN 12 46347579 46347579 single base substitution C T downstream_gene_variant COCA-CN 12 46347579 46347579 single base substitution C T intron_variant COCA-CN 12 46349850 46349850 single base substitution A C 3_prime_UTR_variant COCA-CN 12 46349850 46349850 single base substitution A C downstream_gene_variant COCA-CN 12 46349850 46349850 single base substitution A C intron_variant COCA-CN 12 46385799 46385799 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 12 46385799 46385799 single base substitution G A upstream_gene_variant EOPC-DE 12 46319991 46319991 single base substitution G A downstream_gene_variant EOPC-DE 12 46319991 46319991 single base substitution G A exon_variant EOPC-DE 12 46319991 46319991 single base substitution G A stop_gained R1165* 3493C>T EOPC-DE 12 46319991 46319991 single base substitution G A stop_gained R850* 2548C>T EOPC-DE 12 46319991 46319991 single base substitution G A stop_gained R973* 2917C>T EOPC-DE 12 46319991 46319991 single base substitution G A upstream_gene_variant EOPC-DE 12 46340412 46340412 single base substitution A T downstream_gene_variant EOPC-DE 12 46340412 46340412 single base substitution A T intron_variant EOPC-DE 12 46359135 46359135 single base substitution T C intron_variant EOPC-DE 12 46362516 46362516 single base substitution G A intron_variant ESAD-UK 12 46308867 46308867 single base substitution C T downstream_gene_variant ESAD-UK 12 46313027 46313027 single base substitution G A downstream_gene_variant ESAD-UK 12 46313027 46313027 single base substitution G A exon_variant ESAD-UK 12 46314393 46314393 single base substitution A G downstream_gene_variant ESAD-UK 12 46314393 46314393 single base substitution A G intron_variant ESAD-UK 12 46314394 46314394 single base substitution A G downstream_gene_variant ESAD-UK 12 46314394 46314394 single base substitution A G intron_variant ESAD-UK 12 46316224 46316224 single base substitution C T downstream_gene_variant ESAD-UK 12 46316224 46316224 single base substitution C T exon_variant ESAD-UK 12 46316224 46316224 single base substitution C T intron_variant ESAD-UK 12 46318868 46318868 deletion of <=200bp A - downstream_gene_variant ESAD-UK 12 46318868 46318868 deletion of <=200bp A - intron_variant ESAD-UK 12 46318868 46318868 deletion of <=200bp A - upstream_gene_variant ESAD-UK 12 46320991 46320991 single base substitution T C downstream_gene_variant ESAD-UK 12 46320991 46320991 single base substitution T C exon_variant ESAD-UK 12 46320991 46320991 single base substitution T C synonymous_variant Q516Q 1548A>G ESAD-UK 12 46320991 46320991 single base substitution T C synonymous_variant Q639Q 1917A>G ESAD-UK 12 46320991 46320991 single base substitution T C synonymous_variant Q831Q 2493A>G ESAD-UK 12 46320991 46320991 single base substitution T C upstream_gene_variant ESAD-UK 12 46329237 46329237 single base substitution C T intron_variant ESAD-UK 12 46329237 46329237 single base substitution C T upstream_gene_variant ESAD-UK 12 46332495 46332495 single base substitution A G intron_variant ESAD-UK 12 46332495 46332495 single base substitution A G upstream_gene_variant ESAD-UK 12 46333162 46333162 single base substitution C G intron_variant ESAD-UK 12 46333162 46333162 single base substitution C G upstream_gene_variant ESAD-UK 12 46334694 46334694 single base substitution C A downstream_gene_variant ESAD-UK 12 46334694 46334694 single base substitution C A intron_variant ESAD-UK 12 46334704 46334704 single base substitution C T downstream_gene_variant ESAD-UK 12 46334704 46334704 single base substitution C T intron_variant ESAD-UK 12 46335127 46335127 single base substitution A G downstream_gene_variant ESAD-UK 12 46335127 46335127 single base substitution A G intron_variant ESAD-UK 12 46336915 46336915 single base substitution G C downstream_gene_variant ESAD-UK 12 46336915 46336915 single base substitution G C intron_variant ESAD-UK 12 46338237 46338237 deletion of <=200bp A - downstream_gene_variant ESAD-UK 12 46338237 46338237 deletion of <=200bp A - intron_variant ESAD-UK 12 46338726 46338726 single base substitution T G downstream_gene_variant ESAD-UK 12 46338726 46338726 single base substitution T G intron_variant ESAD-UK 12 46339835 46339835 single base substitution C T downstream_gene_variant ESAD-UK 12 46339835 46339835 single base substitution C T intron_variant ESAD-UK 12 46341486 46341486 single base substitution G C downstream_gene_variant ESAD-UK 12 46341486 46341486 single base substitution G C intron_variant ESAD-UK 12 46342934 46342934 single base substitution G A intron_variant ESAD-UK 12 46342934 46342934 single base substitution G A upstream_gene_variant ESAD-UK 12 46344002 46344002 single base substitution G T downstream_gene_variant ESAD-UK 12 46344002 46344002 single base substitution G T intron_variant ESAD-UK 12 46344002 46344002 single base substitution G T upstream_gene_variant ESAD-UK 12 46344036 46344036 single base substitution G A downstream_gene_variant ESAD-UK 12 46344036 46344036 single base substitution G A intron_variant ESAD-UK 12 46344036 46344036 single base substitution G A upstream_gene_variant ESAD-UK 12 46344456 46344456 single base substitution A G downstream_gene_variant ESAD-UK 12 46344456 46344456 single base substitution A G intron_variant ESAD-UK 12 46344456 46344456 single base substitution A G upstream_gene_variant ESAD-UK 12 46346101 46346101 single base substitution A C downstream_gene_variant ESAD-UK 12 46346101 46346101 single base substitution A C intron_variant ESAD-UK 12 46346101 46346101 single base substitution A C upstream_gene_variant ESAD-UK 12 46347879 46347879 single base substitution T A downstream_gene_variant ESAD-UK 12 46347879 46347879 single base substitution T A intron_variant ESAD-UK 12 46347947 46347947 deletion of <=200bp T - downstream_gene_variant ESAD-UK 12 46347947 46347947 deletion of <=200bp T - intron_variant ESAD-UK 12 46348068 46348068 single base substitution G A downstream_gene_variant ESAD-UK 12 46348068 46348068 single base substitution G A intron_variant ESAD-UK 12 46350070 46350070 single base substitution C A downstream_gene_variant ESAD-UK 12 46350070 46350070 single base substitution C A intron_variant ESAD-UK 12 46350911 46350911 single base substitution G A downstream_gene_variant ESAD-UK 12 46350911 46350911 single base substitution G A intron_variant ESAD-UK 12 46355328 46355328 single base substitution A T exon_variant ESAD-UK 12 46355328 46355328 single base substitution A T intron_variant ESAD-UK 12 46356249 46356249 single base substitution T A intron_variant ESAD-UK 12 46357279 46357279 single base substitution A C intron_variant ESAD-UK 12 46359420 46359420 single base substitution T C intron_variant ESAD-UK 12 46363283 46363283 single base substitution T G intron_variant ESAD-UK 12 46364542 46364542 single base substitution A C intron_variant ESAD-UK 12 46364552 46364552 single base substitution T C intron_variant ESAD-UK 12 46366010 46366010 single base substitution T C intron_variant ESAD-UK 12 46369385 46369385 single base substitution C A 5_prime_UTR_variant ESAD-UK 12 46369385 46369385 single base substitution C A intron_variant ESAD-UK 12 46372893 46372893 insertion of <=200bp - A intron_variant ESAD-UK 12 46373008 46373008 single base substitution C G intron_variant ESAD-UK 12 46373772 46373772 single base substitution C A intron_variant ESAD-UK 12 46374841 46374841 single base substitution G A intron_variant ESAD-UK 12 46374873 46374873 single base substitution T C intron_variant ESAD-UK 12 46376260 46376260 single base substitution C T intron_variant ESAD-UK 12 46378389 46378389 single base substitution A G intron_variant ESAD-UK 12 46379098 46379098 single base substitution C T intron_variant ESAD-UK 12 46379631 46379631 single base substitution C T intron_variant ESAD-UK 12 46384805 46384805 single base substitution G A intron_variant ESAD-UK 12 46384805 46384805 single base substitution G A upstream_gene_variant ESAD-UK 12 46385132 46385132 single base substitution G C intron_variant ESAD-UK 12 46385132 46385132 single base substitution G C upstream_gene_variant ESAD-UK 12 46386886 46386886 single base substitution A G upstream_gene_variant ESAD-UK 12 46389960 46389960 single base substitution G A upstream_gene_variant ESAD-UK 12 46390779 46390779 single base substitution C A upstream_gene_variant ESCA-CN 12 46320173 46320173 single base substitution G A downstream_gene_variant ESCA-CN 12 46320173 46320173 single base substitution G A exon_variant ESCA-CN 12 46320173 46320173 single base substitution G A missense_variant S1104L 3311C>T ESCA-CN 12 46320173 46320173 single base substitution G A missense_variant S789L 2366C>T ESCA-CN 12 46320173 46320173 single base substitution G A missense_variant S912L 2735C>T ESCA-CN 12 46320173 46320173 single base substitution G A upstream_gene_variant ESCA-CN 12 46320256 46320256 single base substitution G T downstream_gene_variant ESCA-CN 12 46320256 46320256 single base substitution G T exon_variant ESCA-CN 12 46320256 46320256 single base substitution G T synonymous_variant G1076G 3228C>A ESCA-CN 12 46320256 46320256 single base substitution G T synonymous_variant G761G 2283C>A ESCA-CN 12 46320256 46320256 single base substitution G T synonymous_variant G884G 2652C>A ESCA-CN 12 46320256 46320256 single base substitution G T upstream_gene_variant ESCA-CN 12 46321210 46321210 single base substitution C T downstream_gene_variant ESCA-CN 12 46321210 46321210 single base substitution C T exon_variant ESCA-CN 12 46321210 46321210 single base substitution C T synonymous_variant P443P 1329G>A ESCA-CN 12 46321210 46321210 single base substitution C T synonymous_variant P566P 1698G>A ESCA-CN 12 46321210 46321210 single base substitution C T synonymous_variant P758P 2274G>A ESCA-CN 12 46321210 46321210 single base substitution C T upstream_gene_variant GBM-US 12 46320707 46320708 deletion of <=200bp TC - downstream_gene_variant GBM-US 12 46320707 46320708 deletion of <=200bp TC - exon_variant GBM-US 12 46320707 46320708 deletion of <=200bp TC - frameshift_variant E611 GBM-US 12 46320707 46320708 deletion of <=200bp TC - frameshift_variant E734 GBM-US 12 46320707 46320708 deletion of <=200bp TC - frameshift_variant E926 GBM-US 12 46320707 46320708 deletion of <=200bp TC - upstream_gene_variant GBM-US 12 46321868 46321868 single base substitution G C downstream_gene_variant GBM-US 12 46321868 46321868 single base substitution G C exon_variant GBM-US 12 46321868 46321868 single base substitution G C missense_variant T224R 671C>G GBM-US 12 46321868 46321868 single base substitution G C missense_variant T347R 1040C>G GBM-US 12 46321868 46321868 single base substitution G C missense_variant T539R 1616C>G GBM-US 12 46321868 46321868 single base substitution G C upstream_gene_variant GBM-US 12 46357935 46357935 single base substitution C T 5_prime_UTR_variant GBM-US 12 46357935 46357935 single base substitution C T exon_variant GBM-US 12 46357935 46357935 single base substitution C T missense_variant V22I 64G>A GBM-US 12 46357935 46357935 single base substitution C T missense_variant V6I 16G>A KIRC-US 12 46318555 46318555 single base substitution G T downstream_gene_variant KIRC-US 12 46318555 46318555 single base substitution G T exon_variant KIRC-US 12 46318555 46318555 single base substitution G T missense_variant Q1096K 3286C>A KIRC-US 12 46318555 46318555 single base substitution G T missense_variant Q1288K 3862C>A KIRC-US 12 46318555 46318555 single base substitution G T missense_variant Q973K 2917C>A KIRC-US 12 46318555 46318555 single base substitution G T upstream_gene_variant KIRC-US 12 46318557 46318557 single base substitution T C downstream_gene_variant KIRC-US 12 46318557 46318557 single base substitution T C exon_variant KIRC-US 12 46318557 46318557 single base substitution T C missense_variant Q1095R 3284A>G KIRC-US 12 46318557 46318557 single base substitution T C missense_variant Q1287R 3860A>G KIRC-US 12 46318557 46318557 single base substitution T C missense_variant Q972R 2915A>G KIRC-US 12 46318557 46318557 single base substitution T C upstream_gene_variant KIRC-US 12 46321850 46321850 single base substitution T C downstream_gene_variant KIRC-US 12 46321850 46321850 single base substitution T C exon_variant KIRC-US 12 46321850 46321850 single base substitution T C missense_variant H230R 689A>G KIRC-US 12 46321850 46321850 single base substitution T C missense_variant H353R 1058A>G KIRC-US 12 46321850 46321850 single base substitution T C missense_variant H545R 1634A>G KIRC-US 12 46321850 46321850 single base substitution T C upstream_gene_variant KIRC-US 12 46322466 46322466 single base substitution T A downstream_gene_variant KIRC-US 12 46322466 46322466 single base substitution T A exon_variant KIRC-US 12 46322466 46322466 single base substitution T A missense_variant I148L 442A>T KIRC-US 12 46322466 46322466 single base substitution T A missense_variant I25L 73A>T KIRC-US 12 46322466 46322466 single base substitution T A missense_variant I340L 1018A>T KIRC-US 12 46322466 46322466 single base substitution T A upstream_gene_variant KIRC-US 12 46322579 46322579 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant KIRC-US 12 46322579 46322579 single base substitution G A downstream_gene_variant KIRC-US 12 46322579 46322579 single base substitution G A exon_variant KIRC-US 12 46322579 46322579 single base substitution G A missense_variant S110F 329C>T KIRC-US 12 46322579 46322579 single base substitution G A missense_variant S302F 905C>T KIRC-US 12 46322579 46322579 single base substitution G A upstream_gene_variant KIRC-US 12 46328263 46328263 single base substitution T C 5_prime_UTR_variant KIRC-US 12 46328263 46328263 single base substitution T C exon_variant KIRC-US 12 46328263 46328263 single base substitution T C synonymous_variant G163G 489A>G KIRC-US 12 46328263 46328263 single base substitution T C upstream_gene_variant KIRC-US 12 46355548 46355548 single base substitution C T 5_prime_UTR_variant KIRC-US 12 46355548 46355548 single base substitution C T exon_variant KIRC-US 12 46355548 46355548 single base substitution C T missense_variant E52K 154G>A KIRC-US 12 46355548 46355548 single base substitution C T missense_variant E68K 202G>A KIRP-US 12 46318586 46318586 single base substitution T A downstream_gene_variant KIRP-US 12 46318586 46318586 single base substitution T A synonymous_variant P1085P 3255A>T KIRP-US 12 46318586 46318586 single base substitution T A synonymous_variant P1277P 3831A>T KIRP-US 12 46318586 46318586 single base substitution T A synonymous_variant P962P 2886A>T KIRP-US 12 46318586 46318586 single base substitution T A upstream_gene_variant KIRP-US 12 46320210 46320210 single base substitution G T downstream_gene_variant KIRP-US 12 46320210 46320210 single base substitution G T exon_variant KIRP-US 12 46320210 46320210 single base substitution G T missense_variant Q1092K 3274C>A KIRP-US 12 46320210 46320210 single base substitution G T missense_variant Q777K 2329C>A KIRP-US 12 46320210 46320210 single base substitution G T missense_variant Q900K 2698C>A KIRP-US 12 46320210 46320210 single base substitution G T upstream_gene_variant KIRP-US 12 46320707 46320708 deletion of <=200bp TC - downstream_gene_variant KIRP-US 12 46320707 46320708 deletion of <=200bp TC - exon_variant KIRP-US 12 46320707 46320708 deletion of <=200bp TC - frameshift_variant E611 KIRP-US 12 46320707 46320708 deletion of <=200bp TC - frameshift_variant E734 KIRP-US 12 46320707 46320708 deletion of <=200bp TC - frameshift_variant E926 KIRP-US 12 46320707 46320708 deletion of <=200bp TC - upstream_gene_variant KIRP-US 12 46342224 46342224 single base substitution T C downstream_gene_variant KIRP-US 12 46342224 46342224 single base substitution T C exon_variant KIRP-US 12 46342224 46342224 single base substitution T C missense_variant I132V 394A>G LAML-KR 12 46312130 46312130 single base substitution G A downstream_gene_variant LAML-KR 12 46317004 46317004 single base substitution T A downstream_gene_variant LAML-KR 12 46317004 46317004 single base substitution T A intron_variant LAML-KR 12 46317004 46317004 single base substitution T A upstream_gene_variant LICA-CN 12 46315955 46315955 single base substitution T A downstream_gene_variant LICA-CN 12 46315955 46315955 single base substitution T A intron_variant LICA-CN 12 46315955 46315955 single base substitution T A missense_variant E1108V 3323A>T LICA-CN 12 46315955 46315955 single base substitution T A missense_variant E1231V 3692A>T LICA-CN 12 46315955 46315955 single base substitution T A missense_variant E1423V 4268A>T LICA-CN 12 46320607 46320607 single base substitution T A downstream_gene_variant LICA-CN 12 46320607 46320607 single base substitution T A exon_variant LICA-CN 12 46320607 46320607 single base substitution T A missense_variant R644S 1932A>T LICA-CN 12 46320607 46320607 single base substitution T A missense_variant R767S 2301A>T LICA-CN 12 46320607 46320607 single base substitution T A missense_variant R959S 2877A>T LICA-CN 12 46320607 46320607 single base substitution T A upstream_gene_variant LICA-CN 12 46320975 46320975 single base substitution T C downstream_gene_variant LICA-CN 12 46320975 46320975 single base substitution T C exon_variant LICA-CN 12 46320975 46320975 single base substitution T C missense_variant N522D 1564A>G LICA-CN 12 46320975 46320975 single base substitution T C missense_variant N645D 1933A>G LICA-CN 12 46320975 46320975 single base substitution T C missense_variant N837D 2509A>G LICA-CN 12 46320975 46320975 single base substitution T C upstream_gene_variant LICA-FR 12 46316838 46316838 single base substitution T G downstream_gene_variant LICA-FR 12 46316838 46316838 single base substitution T G exon_variant LICA-FR 12 46316838 46316838 single base substitution T G missense_variant S1021R 3061A>C LICA-FR 12 46316838 46316838 single base substitution T G missense_variant S1144R 3430A>C LICA-FR 12 46316838 46316838 single base substitution T G missense_variant S1336R 4006A>C LICA-FR 12 46319681 46319681 single base substitution A G downstream_gene_variant LICA-FR 12 46319681 46319681 single base substitution A G intron_variant LICA-FR 12 46319681 46319681 single base substitution A G upstream_gene_variant LICA-FR 12 46320635 46320669 deletion of <=200bp TTACTTTTTGTTCTACATCTTGAGGGGGACCTAGA - downstream_gene_variant LICA-FR 12 46320635 46320669 deletion of <=200bp TTACTTTTTGTTCTACATCTTGAGGGGGACCTAGA - exon_variant LICA-FR 12 46320635 46320669 deletion of <=200bp TTACTTTTTGTTCTACATCTTGAGGGGGACCTAGA - frameshift_variant SRSPSRCRTKSK624 LICA-FR 12 46320635 46320669 deletion of <=200bp TTACTTTTTGTTCTACATCTTGAGGGGGACCTAGA - frameshift_variant SRSPSRCRTKSK747 LICA-FR 12 46320635 46320669 deletion of <=200bp TTACTTTTTGTTCTACATCTTGAGGGGGACCTAGA - frameshift_variant SRSPSRCRTKSK939 LICA-FR 12 46320635 46320669 deletion of <=200bp TTACTTTTTGTTCTACATCTTGAGGGGGACCTAGA - upstream_gene_variant LICA-FR 12 46321475 46321475 deletion of <=200bp T - downstream_gene_variant LICA-FR 12 46321475 46321475 deletion of <=200bp T - exon_variant LICA-FR 12 46321475 46321475 deletion of <=200bp T - frameshift_variant N355 LICA-FR 12 46321475 46321475 deletion of <=200bp T - frameshift_variant N478 LICA-FR 12 46321475 46321475 deletion of <=200bp T - frameshift_variant N670 LICA-FR 12 46321475 46321475 deletion of <=200bp T - upstream_gene_variant LICA-FR 12 46355497 46355497 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant LICA-FR 12 46355497 46355497 single base substitution G C exon_variant LICA-FR 12 46355497 46355497 single base substitution G C missense_variant L69V 205C>G LICA-FR 12 46355497 46355497 single base substitution G C missense_variant L85V 253C>G LICA-FR 12 46376034 46376034 single base substitution A C intron_variant LICA-FR 12 46377526 46377526 insertion of <=200bp - ACACACAC intron_variant LIHC-US 12 46357973 46357973 single base substitution T C splice_acceptor_variant LINC-JP 12 46317290 46317290 single base substitution C A downstream_gene_variant LINC-JP 12 46317290 46317290 single base substitution C A intron_variant LINC-JP 12 46317290 46317290 single base substitution C A upstream_gene_variant LINC-JP 12 46318749 46318749 single base substitution T G downstream_gene_variant LINC-JP 12 46318749 46318749 single base substitution T G exon_variant LINC-JP 12 46318749 46318749 single base substitution T G missense_variant H1031P 3092A>C LINC-JP 12 46318749 46318749 single base substitution T G missense_variant H1223P 3668A>C LINC-JP 12 46318749 46318749 single base substitution T G missense_variant H908P 2723A>C LINC-JP 12 46318749 46318749 single base substitution T G upstream_gene_variant LINC-JP 12 46319967 46319967 single base substitution G T downstream_gene_variant LINC-JP 12 46319967 46319967 single base substitution G T exon_variant LINC-JP 12 46319967 46319967 single base substitution G T missense_variant Q1173K 3517C>A LINC-JP 12 46319967 46319967 single base substitution G T missense_variant Q858K 2572C>A LINC-JP 12 46319967 46319967 single base substitution G T missense_variant Q981K 2941C>A LINC-JP 12 46319967 46319967 single base substitution G T upstream_gene_variant LINC-JP 12 46321379 46321379 single base substitution A C downstream_gene_variant LINC-JP 12 46321379 46321379 single base substitution A C exon_variant LINC-JP 12 46321379 46321379 single base substitution A C missense_variant I387S 1160T>G LINC-JP 12 46321379 46321379 single base substitution A C missense_variant I510S 1529T>G LINC-JP 12 46321379 46321379 single base substitution A C missense_variant I702S 2105T>G LINC-JP 12 46321379 46321379 single base substitution A C upstream_gene_variant LINC-JP 12 46326962 46326962 single base substitution T A exon_variant LINC-JP 12 46326962 46326962 single base substitution T A missense_variant H229L 686A>T LINC-JP 12 46326962 46326962 single base substitution T A missense_variant H37L 110A>T LINC-JP 12 46326962 46326962 single base substitution T A upstream_gene_variant LINC-JP 12 46330179 46330179 single base substitution C T intron_variant LINC-JP 12 46330179 46330179 single base substitution C T upstream_gene_variant LINC-JP 12 46339131 46339131 insertion of <=200bp - A downstream_gene_variant LINC-JP 12 46339131 46339131 insertion of <=200bp - A intron_variant LINC-JP 12 46348723 46348723 insertion of <=200bp - T 3_prime_UTR_variant LINC-JP 12 46348723 46348723 insertion of <=200bp - T intron_variant LINC-JP 12 46348979 46348979 single base substitution C A 3_prime_UTR_variant LINC-JP 12 46348979 46348979 single base substitution C A intron_variant LINC-JP 12 46367436 46367436 single base substitution C T intron_variant LINC-JP 12 46368969 46368969 single base substitution T C 5_prime_UTR_variant LINC-JP 12 46368969 46368969 single base substitution T C intron_variant LIRI-JP 12 46308585 46308585 single base substitution C A downstream_gene_variant LIRI-JP 12 46310220 46310220 single base substitution T A downstream_gene_variant LIRI-JP 12 46310514 46310514 single base substitution G T downstream_gene_variant LIRI-JP 12 46310515 46310515 single base substitution A T downstream_gene_variant LIRI-JP 12 46311166 46311166 insertion of <=200bp - A downstream_gene_variant LIRI-JP 12 46311413 46311413 single base substitution G A downstream_gene_variant LIRI-JP 12 46311473 46311473 single base substitution G C downstream_gene_variant LIRI-JP 12 46311898 46311898 single base substitution T A downstream_gene_variant LIRI-JP 12 46312090 46312090 single base substitution G T downstream_gene_variant LIRI-JP 12 46314039 46314039 single base substitution T A downstream_gene_variant LIRI-JP 12 46314039 46314039 single base substitution T A intron_variant LIRI-JP 12 46315461 46315461 single base substitution G A 3_prime_UTR_variant LIRI-JP 12 46315461 46315461 single base substitution G A downstream_gene_variant LIRI-JP 12 46315461 46315461 single base substitution G A intron_variant LIRI-JP 12 46315462 46315462 single base substitution C A 3_prime_UTR_variant LIRI-JP 12 46315462 46315462 single base substitution C A downstream_gene_variant LIRI-JP 12 46315462 46315462 single base substitution C A intron_variant LIRI-JP 12 46316388 46316388 single base substitution T C downstream_gene_variant LIRI-JP 12 46316388 46316388 single base substitution T C intron_variant LIRI-JP 12 46316983 46316983 single base substitution T C downstream_gene_variant LIRI-JP 12 46316983 46316983 single base substitution T C intron_variant LIRI-JP 12 46316983 46316983 single base substitution T C upstream_gene_variant LIRI-JP 12 46317447 46317447 single base substitution T C downstream_gene_variant LIRI-JP 12 46317447 46317447 single base substitution T C intron_variant LIRI-JP 12 46317447 46317447 single base substitution T C upstream_gene_variant LIRI-JP 12 46317621 46317621 single base substitution C T downstream_gene_variant LIRI-JP 12 46317621 46317621 single base substitution C T intron_variant LIRI-JP 12 46317621 46317621 single base substitution C T upstream_gene_variant LIRI-JP 12 46318663 46318663 single base substitution G A downstream_gene_variant LIRI-JP 12 46318663 46318663 single base substitution G A stop_gained Q1060* 3178C>T LIRI-JP 12 46318663 46318663 single base substitution G A stop_gained Q1252* 3754C>T LIRI-JP 12 46318663 46318663 single base substitution G A stop_gained Q937* 2809C>T LIRI-JP 12 46318663 46318663 single base substitution G A upstream_gene_variant LIRI-JP 12 46318856 46318861 deletion of <=200bp ATCTAT - downstream_gene_variant LIRI-JP 12 46318856 46318861 deletion of <=200bp ATCTAT - frameshift_variant D1187 LIRI-JP 12 46318856 46318861 deletion of <=200bp ATCTAT - frameshift_variant D872 LIRI-JP 12 46318856 46318861 deletion of <=200bp ATCTAT - frameshift_variant D995 LIRI-JP 12 46318856 46318861 deletion of <=200bp ATCTAT - splice_acceptor_variant LIRI-JP 12 46318856 46318861 deletion of <=200bp ATCTAT - upstream_gene_variant LIRI-JP 12 46319304 46319304 single base substitution C A downstream_gene_variant LIRI-JP 12 46319304 46319304 single base substitution C A intron_variant LIRI-JP 12 46319304 46319304 single base substitution C A upstream_gene_variant LIRI-JP 12 46319305 46319305 single base substitution C A downstream_gene_variant LIRI-JP 12 46319305 46319305 single base substitution C A intron_variant LIRI-JP 12 46319305 46319305 single base substitution C A upstream_gene_variant LIRI-JP 12 46320030 46320030 single base substitution T C downstream_gene_variant LIRI-JP 12 46320030 46320030 single base substitution T C exon_variant LIRI-JP 12 46320030 46320030 single base substitution T C missense_variant K1152E 3454A>G LIRI-JP 12 46320030 46320030 single base substitution T C missense_variant K837E 2509A>G LIRI-JP 12 46320030 46320030 single base substitution T C missense_variant K960E 2878A>G LIRI-JP 12 46320030 46320030 single base substitution T C upstream_gene_variant LIRI-JP 12 46321043 46321043 single base substitution G T downstream_gene_variant LIRI-JP 12 46321043 46321043 single base substitution G T exon_variant LIRI-JP 12 46321043 46321043 single base substitution G T missense_variant P499H 1496C>A LIRI-JP 12 46321043 46321043 single base substitution G T missense_variant P622H 1865C>A LIRI-JP 12 46321043 46321043 single base substitution G T missense_variant P814H 2441C>A LIRI-JP 12 46321043 46321043 single base substitution G T upstream_gene_variant LIRI-JP 12 46323207 46323207 single base substitution C T 5_prime_UTR_variant LIRI-JP 12 46323207 46323207 single base substitution C T downstream_gene_variant LIRI-JP 12 46323207 46323207 single base substitution C T intron_variant LIRI-JP 12 46323207 46323207 single base substitution C T upstream_gene_variant LIRI-JP 12 46323896 46323896 single base substitution A G downstream_gene_variant LIRI-JP 12 46323896 46323896 single base substitution A G intron_variant LIRI-JP 12 46323896 46323896 single base substitution A G upstream_gene_variant LIRI-JP 12 46323993 46323993 single base substitution T C downstream_gene_variant LIRI-JP 12 46323993 46323993 single base substitution T C intron_variant LIRI-JP 12 46323993 46323993 single base substitution T C upstream_gene_variant LIRI-JP 12 46325650 46325650 single base substitution C A intron_variant LIRI-JP 12 46325650 46325650 single base substitution C A upstream_gene_variant LIRI-JP 12 46325725 46325725 single base substitution T C intron_variant LIRI-JP 12 46325725 46325725 single base substitution T C upstream_gene_variant LIRI-JP 12 46326372 46326372 single base substitution C A intron_variant LIRI-JP 12 46326372 46326372 single base substitution C A upstream_gene_variant LIRI-JP 12 46326597 46326597 single base substitution G C intron_variant LIRI-JP 12 46326597 46326597 single base substitution G C upstream_gene_variant LIRI-JP 12 46328565 46328565 single base substitution T A intron_variant LIRI-JP 12 46328565 46328565 single base substitution T A upstream_gene_variant LIRI-JP 12 46333839 46333839 single base substitution A G intron_variant LIRI-JP 12 46333839 46333839 single base substitution A G upstream_gene_variant LIRI-JP 12 46336613 46336613 single base substitution T C downstream_gene_variant LIRI-JP 12 46336613 46336613 single base substitution T C intron_variant LIRI-JP 12 46340732 46340732 single base substitution A C downstream_gene_variant LIRI-JP 12 46340732 46340732 single base substitution A C intron_variant LIRI-JP 12 46341648 46341648 single base substitution C A downstream_gene_variant LIRI-JP 12 46341648 46341648 single base substitution C A intron_variant LIRI-JP 12 46341836 46341836 single base substitution G A downstream_gene_variant LIRI-JP 12 46341836 46341836 single base substitution G A intron_variant LIRI-JP 12 46342938 46342938 single base substitution C A intron_variant LIRI-JP 12 46342938 46342938 single base substitution C A upstream_gene_variant LIRI-JP 12 46343565 46343565 single base substitution A G downstream_gene_variant LIRI-JP 12 46343565 46343565 single base substitution A G intron_variant LIRI-JP 12 46343565 46343565 single base substitution A G upstream_gene_variant LIRI-JP 12 46343976 46343976 single base substitution A C downstream_gene_variant LIRI-JP 12 46343976 46343976 single base substitution A C intron_variant LIRI-JP 12 46343976 46343976 single base substitution A C upstream_gene_variant LIRI-JP 12 46344076 46344076 single base substitution T C downstream_gene_variant LIRI-JP 12 46344076 46344076 single base substitution T C intron_variant LIRI-JP 12 46344076 46344076 single base substitution T C upstream_gene_variant LIRI-JP 12 46344697 46344697 single base substitution T C downstream_gene_variant LIRI-JP 12 46344697 46344697 single base substitution T C intron_variant LIRI-JP 12 46344697 46344697 single base substitution T C upstream_gene_variant LIRI-JP 12 46344904 46344904 single base substitution A T downstream_gene_variant LIRI-JP 12 46344904 46344904 single base substitution A T intron_variant LIRI-JP 12 46344904 46344904 single base substitution A T upstream_gene_variant LIRI-JP 12 46345770 46345770 single base substitution A G downstream_gene_variant LIRI-JP 12 46345770 46345770 single base substitution A G intron_variant LIRI-JP 12 46345770 46345770 single base substitution A G upstream_gene_variant LIRI-JP 12 46347151 46347151 single base substitution T C downstream_gene_variant LIRI-JP 12 46347151 46347151 single base substitution T C intron_variant LIRI-JP 12 46347151 46347151 single base substitution T C upstream_gene_variant LIRI-JP 12 46347816 46347816 single base substitution T C downstream_gene_variant LIRI-JP 12 46347816 46347816 single base substitution T C intron_variant LIRI-JP 12 46352270 46352270 single base substitution A T downstream_gene_variant LIRI-JP 12 46352270 46352270 single base substitution A T intron_variant LIRI-JP 12 46356169 46356169 single base substitution T C intron_variant LIRI-JP 12 46356707 46356707 single base substitution T C intron_variant LIRI-JP 12 46358142 46358143 deletion of <=200bp CA - intron_variant LIRI-JP 12 46359050 46359050 single base substitution G A intron_variant LIRI-JP 12 46361683 46361683 single base substitution T C intron_variant LIRI-JP 12 46363757 46363757 single base substitution G A intron_variant LIRI-JP 12 46364400 46364400 single base substitution G T intron_variant LIRI-JP 12 46365086 46365086 single base substitution C T intron_variant LIRI-JP 12 46368988 46368988 single base substitution G T 5_prime_UTR_variant LIRI-JP 12 46368988 46368988 single base substitution G T intron_variant LIRI-JP 12 46369448 46369448 single base substitution T A 5_prime_UTR_variant LIRI-JP 12 46369448 46369448 single base substitution T A intron_variant LIRI-JP 12 46369483 46369483 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 12 46369483 46369483 single base substitution T A intron_variant LIRI-JP 12 46370260 46370260 single base substitution T C intron_variant LIRI-JP 12 46372623 46372626 deletion of <=200bp AATA - intron_variant LIRI-JP 12 46374602 46374625 deletion of <=200bp GATTAAGACTGTCCTGCTCCACCA - intron_variant LIRI-JP 12 46375219 46375219 single base substitution A G intron_variant LIRI-JP 12 46375343 46375343 single base substitution T G intron_variant LIRI-JP 12 46375558 46375558 single base substitution C T intron_variant LIRI-JP 12 46377941 46377941 deletion of <=200bp G - intron_variant LIRI-JP 12 46378525 46378525 single base substitution T C intron_variant LIRI-JP 12 46379921 46379921 single base substitution T C intron_variant LIRI-JP 12 46381174 46381174 single base substitution C A intron_variant LIRI-JP 12 46381192 46381192 single base substitution T C intron_variant LIRI-JP 12 46382318 46382318 single base substitution A C intron_variant LIRI-JP 12 46383044 46383044 single base substitution A G intron_variant LIRI-JP 12 46383386 46383386 single base substitution T C intron_variant LIRI-JP 12 46383607 46383607 single base substitution A T intron_variant LIRI-JP 12 46386073 46386073 single base substitution T C upstream_gene_variant LIRI-JP 12 46386128 46386128 single base substitution A G upstream_gene_variant LIRI-JP 12 46387280 46387280 single base substitution G T upstream_gene_variant LIRI-JP 12 46387548 46387548 single base substitution T A upstream_gene_variant LIRI-JP 12 46387931 46387931 single base substitution G C upstream_gene_variant LIRI-JP 12 46388739 46388739 single base substitution G T upstream_gene_variant LIRI-JP 12 46388740 46388740 single base substitution A G upstream_gene_variant LIRI-JP 12 46389000 46389000 single base substitution A G upstream_gene_variant LUSC-KR 12 46308088 46308088 single base substitution A G downstream_gene_variant LUSC-KR 12 46308736 46308736 single base substitution C G downstream_gene_variant LUSC-KR 12 46317004 46317004 single base substitution T A downstream_gene_variant LUSC-KR 12 46317004 46317004 single base substitution T A intron_variant LUSC-KR 12 46317004 46317004 single base substitution T A upstream_gene_variant LUSC-KR 12 46322738 46322738 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 12 46322738 46322738 single base substitution G C downstream_gene_variant LUSC-KR 12 46322738 46322738 single base substitution G C intron_variant LUSC-KR 12 46322738 46322738 single base substitution G C upstream_gene_variant LUSC-KR 12 46326239 46326239 single base substitution C G intron_variant LUSC-KR 12 46326239 46326239 single base substitution C G upstream_gene_variant LUSC-KR 12 46328188 46328188 single base substitution T G intron_variant LUSC-KR 12 46328188 46328188 single base substitution T G upstream_gene_variant LUSC-KR 12 46329165 46329165 single base substitution T C intron_variant LUSC-KR 12 46329165 46329165 single base substitution T C upstream_gene_variant LUSC-KR 12 46342721 46342721 single base substitution G T intron_variant LUSC-KR 12 46342721 46342721 single base substitution G T upstream_gene_variant LUSC-KR 12 46342921 46342921 single base substitution A C intron_variant LUSC-KR 12 46342921 46342921 single base substitution A C upstream_gene_variant LUSC-KR 12 46355710 46355710 single base substitution T C intron_variant LUSC-KR 12 46374586 46374586 single base substitution G C intron_variant LUSC-KR 12 46375255 46375255 single base substitution C A intron_variant LUSC-KR 12 46382448 46382448 single base substitution C T intron_variant LUSC-KR 12 46388283 46388283 single base substitution A G upstream_gene_variant LUSC-KR 12 46388992 46388992 single base substitution C G upstream_gene_variant LUSC-US 12 46316732 46316732 single base substitution G T downstream_gene_variant LUSC-US 12 46316732 46316732 single base substitution G T exon_variant LUSC-US 12 46316732 46316732 single base substitution G T intron_variant LUSC-US 12 46316732 46316732 single base substitution G T stop_gained S1056* 3167C>A LUSC-US 12 46316732 46316732 single base substitution G T stop_gained S1179* 3536C>A LUSC-US 12 46316732 46316732 single base substitution G T stop_gained S1371* 4112C>A LUSC-US 12 46320209 46320209 single base substitution T C downstream_gene_variant LUSC-US 12 46320209 46320209 single base substitution T C exon_variant LUSC-US 12 46320209 46320209 single base substitution T C missense_variant Q1092R 3275A>G LUSC-US 12 46320209 46320209 single base substitution T C missense_variant Q777R 2330A>G LUSC-US 12 46320209 46320209 single base substitution T C missense_variant Q900R 2699A>G LUSC-US 12 46320209 46320209 single base substitution T C upstream_gene_variant LUSC-US 12 46320223 46320223 single base substitution A G downstream_gene_variant LUSC-US 12 46320223 46320223 single base substitution A G exon_variant LUSC-US 12 46320223 46320223 single base substitution A G synonymous_variant F1087F 3261T>C LUSC-US 12 46320223 46320223 single base substitution A G synonymous_variant F772F 2316T>C LUSC-US 12 46320223 46320223 single base substitution A G synonymous_variant F895F 2685T>C LUSC-US 12 46320223 46320223 single base substitution A G upstream_gene_variant LUSC-US 12 46320550 46320550 single base substitution T C downstream_gene_variant LUSC-US 12 46320550 46320550 single base substitution T C exon_variant LUSC-US 12 46320550 46320550 single base substitution T C synonymous_variant P663P 1989A>G LUSC-US 12 46320550 46320550 single base substitution T C synonymous_variant P786P 2358A>G LUSC-US 12 46320550 46320550 single base substitution T C synonymous_variant P978P 2934A>G LUSC-US 12 46320550 46320550 single base substitution T C upstream_gene_variant LUSC-US 12 46320689 46320689 single base substitution C A downstream_gene_variant LUSC-US 12 46320689 46320689 single base substitution C A exon_variant LUSC-US 12 46320689 46320689 single base substitution C A missense_variant W617L 1850G>T LUSC-US 12 46320689 46320689 single base substitution C A missense_variant W740L 2219G>T LUSC-US 12 46320689 46320689 single base substitution C A missense_variant W932L 2795G>T LUSC-US 12 46320689 46320689 single base substitution C A upstream_gene_variant LUSC-US 12 46321720 46321720 single base substitution G T downstream_gene_variant LUSC-US 12 46321720 46321720 single base substitution G T exon_variant LUSC-US 12 46321720 46321720 single base substitution G T synonymous_variant S273S 819C>A LUSC-US 12 46321720 46321720 single base substitution G T synonymous_variant S396S 1188C>A LUSC-US 12 46321720 46321720 single base substitution G T synonymous_variant S588S 1764C>A LUSC-US 12 46321720 46321720 single base substitution G T upstream_gene_variant LUSC-US 12 46321729 46321729 single base substitution T C downstream_gene_variant LUSC-US 12 46321729 46321729 single base substitution T C exon_variant LUSC-US 12 46321729 46321729 single base substitution T C synonymous_variant T270T 810A>G LUSC-US 12 46321729 46321729 single base substitution T C synonymous_variant T393T 1179A>G LUSC-US 12 46321729 46321729 single base substitution T C synonymous_variant T585T 1755A>G LUSC-US 12 46321729 46321729 single base substitution T C upstream_gene_variant LUSC-US 12 46322405 46322405 single base substitution G A downstream_gene_variant LUSC-US 12 46322405 46322405 single base substitution G A exon_variant LUSC-US 12 46322405 46322405 single base substitution G A missense_variant S168F 503C>T LUSC-US 12 46322405 46322405 single base substitution G A missense_variant S360F 1079C>T LUSC-US 12 46322405 46322405 single base substitution G A missense_variant S45F 134C>T LUSC-US 12 46322405 46322405 single base substitution G A upstream_gene_variant MALY-DE 12 46319416 46319416 single base substitution A G downstream_gene_variant MALY-DE 12 46319416 46319416 single base substitution A G intron_variant MALY-DE 12 46319416 46319416 single base substitution A G upstream_gene_variant MALY-DE 12 46322769 46322769 single base substitution T C 5_prime_UTR_variant MALY-DE 12 46322769 46322769 single base substitution T C downstream_gene_variant MALY-DE 12 46322769 46322769 single base substitution T C intron_variant MALY-DE 12 46322769 46322769 single base substitution T C upstream_gene_variant MALY-DE 12 46323333 46323333 single base substitution A C 5_prime_UTR_variant MALY-DE 12 46323333 46323333 single base substitution A C downstream_gene_variant MALY-DE 12 46323333 46323333 single base substitution A C intron_variant MALY-DE 12 46323333 46323333 single base substitution A C upstream_gene_variant MALY-DE 12 46323784 46323784 deletion of <=200bp T - downstream_gene_variant MALY-DE 12 46323784 46323784 deletion of <=200bp T - intron_variant MALY-DE 12 46323784 46323784 deletion of <=200bp T - upstream_gene_variant MALY-DE 12 46325824 46325825 deletion of <=200bp AT - intron_variant MALY-DE 12 46325824 46325825 deletion of <=200bp AT - upstream_gene_variant MALY-DE 12 46330322 46330322 single base substitution A G intron_variant MALY-DE 12 46330322 46330322 single base substitution A G upstream_gene_variant MALY-DE 12 46330595 46330595 single base substitution T C intron_variant MALY-DE 12 46330595 46330595 single base substitution T C upstream_gene_variant MALY-DE 12 46334335 46334335 single base substitution A G downstream_gene_variant MALY-DE 12 46334335 46334335 single base substitution A G intron_variant MALY-DE 12 46339793 46339793 single base substitution A G downstream_gene_variant MALY-DE 12 46339793 46339793 single base substitution A G intron_variant MALY-DE 12 46353327 46353327 single base substitution T C downstream_gene_variant MALY-DE 12 46353327 46353327 single base substitution T C intron_variant MALY-DE 12 46358712 46358713 deletion of <=200bp GT - intron_variant MALY-DE 12 46359109 46359109 single base substitution T G intron_variant MALY-DE 12 46366698 46366698 single base substitution T G intron_variant MALY-DE 12 46372916 46372916 single base substitution G C intron_variant MALY-DE 12 46374672 46374672 single base substitution T A intron_variant MALY-DE 12 46375180 46375180 single base substitution C G intron_variant MALY-DE 12 46378433 46378433 single base substitution T C intron_variant MALY-DE 12 46387895 46387895 single base substitution G A upstream_gene_variant MELA-AU 12 46308139 46308139 single base substitution G A downstream_gene_variant MELA-AU 12 46309370 46309370 single base substitution C T downstream_gene_variant MELA-AU 12 46312060 46312060 single base substitution G A downstream_gene_variant MELA-AU 12 46312477 46312477 single base substitution G A downstream_gene_variant MELA-AU 12 46312649 46312649 single base substitution G A downstream_gene_variant MELA-AU 12 46312731 46312732 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 46313027 46313027 single base substitution G A downstream_gene_variant MELA-AU 12 46313027 46313027 single base substitution G A exon_variant MELA-AU 12 46313684 46313684 single base substitution T A downstream_gene_variant MELA-AU 12 46313684 46313684 single base substitution T A intron_variant MELA-AU 12 46314466 46314466 single base substitution C T downstream_gene_variant MELA-AU 12 46314466 46314466 single base substitution C T intron_variant MELA-AU 12 46315791 46315791 single base substitution T G 3_prime_UTR_variant MELA-AU 12 46315791 46315791 single base substitution T G downstream_gene_variant MELA-AU 12 46315791 46315791 single base substitution T G intron_variant MELA-AU 12 46316705 46316705 single base substitution A C downstream_gene_variant MELA-AU 12 46316705 46316705 single base substitution A C intron_variant MELA-AU 12 46316761 46316761 single base substitution A G downstream_gene_variant MELA-AU 12 46316761 46316761 single base substitution A G exon_variant MELA-AU 12 46316761 46316761 single base substitution A G intron_variant MELA-AU 12 46316761 46316761 single base substitution A G synonymous_variant S1046S 3138T>C MELA-AU 12 46316761 46316761 single base substitution A G synonymous_variant S1169S 3507T>C MELA-AU 12 46316761 46316761 single base substitution A G synonymous_variant S1361S 4083T>C MELA-AU 12 46317506 46317506 single base substitution C T downstream_gene_variant MELA-AU 12 46317506 46317506 single base substitution C T intron_variant MELA-AU 12 46317506 46317506 single base substitution C T upstream_gene_variant MELA-AU 12 46317753 46317753 single base substitution C T downstream_gene_variant MELA-AU 12 46317753 46317753 single base substitution C T intron_variant MELA-AU 12 46317753 46317753 single base substitution C T upstream_gene_variant MELA-AU 12 46319233 46319233 single base substitution G A downstream_gene_variant MELA-AU 12 46319233 46319233 single base substitution G A intron_variant MELA-AU 12 46319233 46319233 single base substitution G A upstream_gene_variant MELA-AU 12 46319861 46319861 single base substitution T C downstream_gene_variant MELA-AU 12 46319861 46319861 single base substitution T C intron_variant MELA-AU 12 46319861 46319861 single base substitution T C upstream_gene_variant MELA-AU 12 46320170 46320170 single base substitution C T downstream_gene_variant MELA-AU 12 46320170 46320170 single base substitution C T exon_variant MELA-AU 12 46320170 46320170 single base substitution C T missense_variant G1105E 3314G>A MELA-AU 12 46320170 46320170 single base substitution C T missense_variant G790E 2369G>A MELA-AU 12 46320170 46320170 single base substitution C T missense_variant G913E 2738G>A MELA-AU 12 46320170 46320170 single base substitution C T upstream_gene_variant MELA-AU 12 46320332 46320332 single base substitution C A downstream_gene_variant MELA-AU 12 46320332 46320332 single base substitution C A exon_variant MELA-AU 12 46320332 46320332 single base substitution C A missense_variant R1051I 3152G>T MELA-AU 12 46320332 46320332 single base substitution C A missense_variant R736I 2207G>T MELA-AU 12 46320332 46320332 single base substitution C A missense_variant R859I 2576G>T MELA-AU 12 46320332 46320332 single base substitution C A upstream_gene_variant MELA-AU 12 46320912 46320912 single base substitution C T downstream_gene_variant MELA-AU 12 46320912 46320912 single base substitution C T exon_variant MELA-AU 12 46320912 46320912 single base substitution C T missense_variant E543K 1627G>A MELA-AU 12 46320912 46320912 single base substitution C T missense_variant E666K 1996G>A MELA-AU 12 46320912 46320912 single base substitution C T missense_variant E858K 2572G>A MELA-AU 12 46320912 46320912 single base substitution C T upstream_gene_variant MELA-AU 12 46320947 46320947 single base substitution G A downstream_gene_variant MELA-AU 12 46320947 46320947 single base substitution G A exon_variant MELA-AU 12 46320947 46320947 single base substitution G A missense_variant S531F 1592C>T MELA-AU 12 46320947 46320947 single base substitution G A missense_variant S654F 1961C>T MELA-AU 12 46320947 46320947 single base substitution G A missense_variant S846F 2537C>T MELA-AU 12 46320947 46320947 single base substitution G A upstream_gene_variant MELA-AU 12 46321320 46321320 single base substitution C T downstream_gene_variant MELA-AU 12 46321320 46321320 single base substitution C T exon_variant MELA-AU 12 46321320 46321320 single base substitution C T missense_variant D407N 1219G>A MELA-AU 12 46321320 46321320 single base substitution C T missense_variant D530N 1588G>A MELA-AU 12 46321320 46321320 single base substitution C T missense_variant D722N 2164G>A MELA-AU 12 46321320 46321320 single base substitution C T upstream_gene_variant MELA-AU 12 46322362 46322362 single base substitution C T downstream_gene_variant MELA-AU 12 46322362 46322362 single base substitution C T exon_variant MELA-AU 12 46322362 46322362 single base substitution C T synonymous_variant R182R 546G>A MELA-AU 12 46322362 46322362 single base substitution C T synonymous_variant R374R 1122G>A MELA-AU 12 46322362 46322362 single base substitution C T synonymous_variant R59R 177G>A MELA-AU 12 46322362 46322362 single base substitution C T upstream_gene_variant MELA-AU 12 46323092 46323092 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 46323092 46323092 single base substitution T A downstream_gene_variant MELA-AU 12 46323092 46323092 single base substitution T A intron_variant MELA-AU 12 46323092 46323092 single base substitution T A upstream_gene_variant MELA-AU 12 46324087 46324088 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 46324087 46324088 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 46324087 46324088 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 46324352 46324352 single base substitution C G downstream_gene_variant MELA-AU 12 46324352 46324352 single base substitution C G intron_variant MELA-AU 12 46324352 46324352 single base substitution C G upstream_gene_variant MELA-AU 12 46325824 46325824 insertion of <=200bp - AT intron_variant MELA-AU 12 46325824 46325824 insertion of <=200bp - AT upstream_gene_variant MELA-AU 12 46327735 46327735 single base substitution C T intron_variant MELA-AU 12 46327735 46327735 single base substitution C T upstream_gene_variant MELA-AU 12 46328272 46328272 single base substitution A C 5_prime_UTR_variant MELA-AU 12 46328272 46328272 single base substitution A C exon_variant MELA-AU 12 46328272 46328272 single base substitution A C missense_variant S160R 480T>G MELA-AU 12 46328272 46328272 single base substitution A C upstream_gene_variant MELA-AU 12 46328665 46328665 single base substitution C G intron_variant MELA-AU 12 46328665 46328665 single base substitution C G upstream_gene_variant MELA-AU 12 46329690 46329690 single base substitution C T intron_variant MELA-AU 12 46329690 46329690 single base substitution C T upstream_gene_variant MELA-AU 12 46330898 46330898 single base substitution G A intron_variant MELA-AU 12 46330898 46330898 single base substitution G A upstream_gene_variant MELA-AU 12 46330940 46330940 single base substitution G C intron_variant MELA-AU 12 46330940 46330940 single base substitution G C upstream_gene_variant MELA-AU 12 46330948 46330948 single base substitution C G intron_variant MELA-AU 12 46330948 46330948 single base substitution C G upstream_gene_variant MELA-AU 12 46330970 46330970 single base substitution G A intron_variant MELA-AU 12 46330970 46330970 single base substitution G A upstream_gene_variant MELA-AU 12 46331204 46331204 single base substitution C T intron_variant MELA-AU 12 46331204 46331204 single base substitution C T upstream_gene_variant MELA-AU 12 46331239 46331239 single base substitution C G intron_variant MELA-AU 12 46331239 46331239 single base substitution C G upstream_gene_variant MELA-AU 12 46331420 46331420 single base substitution T C intron_variant MELA-AU 12 46331420 46331420 single base substitution T C upstream_gene_variant MELA-AU 12 46331471 46331471 single base substitution C G intron_variant MELA-AU 12 46331471 46331471 single base substitution C G upstream_gene_variant MELA-AU 12 46331602 46331602 single base substitution T C intron_variant MELA-AU 12 46331602 46331602 single base substitution T C upstream_gene_variant MELA-AU 12 46331640 46331640 single base substitution C G intron_variant MELA-AU 12 46331640 46331640 single base substitution C G upstream_gene_variant MELA-AU 12 46331698 46331698 single base substitution C G intron_variant MELA-AU 12 46331698 46331698 single base substitution C G upstream_gene_variant MELA-AU 12 46332166 46332166 single base substitution G A intron_variant MELA-AU 12 46332166 46332166 single base substitution G A upstream_gene_variant MELA-AU 12 46333611 46333611 single base substitution T C intron_variant MELA-AU 12 46333611 46333611 single base substitution T C upstream_gene_variant MELA-AU 12 46334026 46334026 single base substitution G A downstream_gene_variant MELA-AU 12 46334026 46334026 single base substitution G A intron_variant MELA-AU 12 46334529 46334529 single base substitution G A downstream_gene_variant MELA-AU 12 46334529 46334529 single base substitution G A intron_variant MELA-AU 12 46334721 46334721 single base substitution G A downstream_gene_variant MELA-AU 12 46334721 46334721 single base substitution G A intron_variant MELA-AU 12 46334873 46334873 single base substitution G A downstream_gene_variant MELA-AU 12 46334873 46334873 single base substitution G A intron_variant MELA-AU 12 46336468 46336468 single base substitution G A downstream_gene_variant MELA-AU 12 46336468 46336468 single base substitution G A intron_variant MELA-AU 12 46336940 46336940 single base substitution C A downstream_gene_variant MELA-AU 12 46336940 46336940 single base substitution C A intron_variant MELA-AU 12 46337443 46337443 single base substitution T C downstream_gene_variant MELA-AU 12 46337443 46337443 single base substitution T C intron_variant MELA-AU 12 46337630 46337630 single base substitution G A downstream_gene_variant MELA-AU 12 46337630 46337630 single base substitution G A intron_variant MELA-AU 12 46338722 46338722 single base substitution G A downstream_gene_variant MELA-AU 12 46338722 46338722 single base substitution G A intron_variant MELA-AU 12 46338723 46338723 single base substitution G A downstream_gene_variant MELA-AU 12 46338723 46338723 single base substitution G A intron_variant MELA-AU 12 46338844 46338844 single base substitution G A downstream_gene_variant MELA-AU 12 46338844 46338844 single base substitution G A intron_variant MELA-AU 12 46339613 46339613 single base substitution G A downstream_gene_variant MELA-AU 12 46339613 46339613 single base substitution G A intron_variant MELA-AU 12 46339703 46339703 single base substitution G A downstream_gene_variant MELA-AU 12 46339703 46339703 single base substitution G A intron_variant MELA-AU 12 46340195 46340195 single base substitution G C downstream_gene_variant MELA-AU 12 46340195 46340195 single base substitution G C intron_variant MELA-AU 12 46342914 46342914 single base substitution G A intron_variant MELA-AU 12 46342914 46342914 single base substitution G A upstream_gene_variant MELA-AU 12 46343365 46343365 single base substitution C T intron_variant MELA-AU 12 46343365 46343365 single base substitution C T upstream_gene_variant MELA-AU 12 46344206 46344218 deletion of <=200bp AAGTAAAATACAA - downstream_gene_variant MELA-AU 12 46344206 46344218 deletion of <=200bp AAGTAAAATACAA - intron_variant MELA-AU 12 46344206 46344218 deletion of <=200bp AAGTAAAATACAA - upstream_gene_variant MELA-AU 12 46344268 46344268 single base substitution A C downstream_gene_variant MELA-AU 12 46344268 46344268 single base substitution A C intron_variant MELA-AU 12 46344268 46344268 single base substitution A C upstream_gene_variant MELA-AU 12 46344334 46344334 single base substitution G A downstream_gene_variant MELA-AU 12 46344334 46344334 single base substitution G A intron_variant MELA-AU 12 46344334 46344334 single base substitution G A upstream_gene_variant MELA-AU 12 46345170 46345170 single base substitution C T downstream_gene_variant MELA-AU 12 46345170 46345170 single base substitution C T intron_variant MELA-AU 12 46345170 46345170 single base substitution C T upstream_gene_variant MELA-AU 12 46346100 46346100 single base substitution A G downstream_gene_variant MELA-AU 12 46346100 46346100 single base substitution A G intron_variant MELA-AU 12 46346100 46346100 single base substitution A G upstream_gene_variant MELA-AU 12 46346893 46346893 single base substitution C T downstream_gene_variant MELA-AU 12 46346893 46346893 single base substitution C T intron_variant MELA-AU 12 46346893 46346893 single base substitution C T upstream_gene_variant MELA-AU 12 46346955 46346955 single base substitution G A downstream_gene_variant MELA-AU 12 46346955 46346955 single base substitution G A intron_variant MELA-AU 12 46346955 46346955 single base substitution G A upstream_gene_variant MELA-AU 12 46347003 46347003 single base substitution G T downstream_gene_variant MELA-AU 12 46347003 46347003 single base substitution G T intron_variant MELA-AU 12 46347003 46347003 single base substitution G T upstream_gene_variant MELA-AU 12 46347562 46347562 single base substitution C T downstream_gene_variant MELA-AU 12 46347562 46347562 single base substitution C T intron_variant MELA-AU 12 46347833 46347833 single base substitution C A downstream_gene_variant MELA-AU 12 46347833 46347833 single base substitution C A intron_variant MELA-AU 12 46348123 46348123 single base substitution G A downstream_gene_variant MELA-AU 12 46348123 46348123 single base substitution G A intron_variant MELA-AU 12 46348787 46348787 single base substitution G A 3_prime_UTR_variant MELA-AU 12 46348787 46348787 single base substitution G A intron_variant MELA-AU 12 46349402 46349402 single base substitution T A 3_prime_UTR_variant MELA-AU 12 46349402 46349402 single base substitution T A downstream_gene_variant MELA-AU 12 46349402 46349402 single base substitution T A intron_variant MELA-AU 12 46350406 46350406 single base substitution A G downstream_gene_variant MELA-AU 12 46350406 46350406 single base substitution A G intron_variant MELA-AU 12 46351024 46351024 single base substitution A G downstream_gene_variant MELA-AU 12 46351024 46351024 single base substitution A G intron_variant MELA-AU 12 46351216 46351216 single base substitution A G downstream_gene_variant MELA-AU 12 46351216 46351216 single base substitution A G intron_variant MELA-AU 12 46351436 46351436 single base substitution G A downstream_gene_variant MELA-AU 12 46351436 46351436 single base substitution G A intron_variant MELA-AU 12 46351577 46351577 single base substitution A T downstream_gene_variant MELA-AU 12 46351577 46351577 single base substitution A T intron_variant MELA-AU 12 46351704 46351704 single base substitution C T downstream_gene_variant MELA-AU 12 46351704 46351704 single base substitution C T intron_variant MELA-AU 12 46352195 46352195 single base substitution A G downstream_gene_variant MELA-AU 12 46352195 46352195 single base substitution A G intron_variant MELA-AU 12 46353243 46353243 single base substitution C T downstream_gene_variant MELA-AU 12 46353243 46353243 single base substitution C T intron_variant MELA-AU 12 46353346 46353346 single base substitution G A downstream_gene_variant MELA-AU 12 46353346 46353346 single base substitution G A intron_variant MELA-AU 12 46353627 46353627 single base substitution G A downstream_gene_variant MELA-AU 12 46353627 46353627 single base substitution G A intron_variant MELA-AU 12 46353666 46353666 single base substitution G A downstream_gene_variant MELA-AU 12 46353666 46353666 single base substitution G A intron_variant MELA-AU 12 46355683 46355686 deletion of <=200bp ACCA - intron_variant MELA-AU 12 46356521 46356521 single base substitution G A intron_variant MELA-AU 12 46356597 46356597 single base substitution G A intron_variant MELA-AU 12 46357475 46357475 single base substitution G A intron_variant MELA-AU 12 46357965 46357965 single base substitution G A 5_prime_UTR_variant MELA-AU 12 46357965 46357965 single base substitution G A exon_variant MELA-AU 12 46357965 46357965 single base substitution G A missense_variant L12F 34C>T MELA-AU 12 46359038 46359038 single base substitution G A intron_variant MELA-AU 12 46359854 46359854 single base substitution T C intron_variant MELA-AU 12 46360982 46360983 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 46361321 46361321 single base substitution G A intron_variant MELA-AU 12 46361449 46361449 single base substitution A T intron_variant MELA-AU 12 46362008 46362009 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 46362251 46362251 single base substitution G A intron_variant MELA-AU 12 46363030 46363030 single base substitution G A intron_variant MELA-AU 12 46363618 46363618 single base substitution C T intron_variant MELA-AU 12 46363804 46363804 single base substitution G A intron_variant MELA-AU 12 46364035 46364035 single base substitution A G intron_variant MELA-AU 12 46364258 46364258 single base substitution G A intron_variant MELA-AU 12 46365316 46365316 single base substitution C T intron_variant MELA-AU 12 46366175 46366175 single base substitution G A intron_variant MELA-AU 12 46366390 46366390 single base substitution A T intron_variant MELA-AU 12 46366703 46366703 single base substitution A C intron_variant MELA-AU 12 46366722 46366722 single base substitution G T intron_variant MELA-AU 12 46367135 46367135 single base substitution C A intron_variant MELA-AU 12 46367144 46367144 single base substitution G A intron_variant MELA-AU 12 46367934 46367944 deletion of <=200bp ATTATGTCTAA - intron_variant MELA-AU 12 46367960 46367960 single base substitution G A intron_variant MELA-AU 12 46369665 46369665 single base substitution A G intron_variant MELA-AU 12 46370543 46370543 single base substitution C T intron_variant MELA-AU 12 46371333 46371333 single base substitution G C intron_variant MELA-AU 12 46371946 46371946 single base substitution G A intron_variant MELA-AU 12 46372133 46372133 single base substitution T C intron_variant MELA-AU 12 46372439 46372439 single base substitution G A intron_variant MELA-AU 12 46372581 46372581 single base substitution G A intron_variant MELA-AU 12 46372902 46372902 single base substitution C T intron_variant MELA-AU 12 46373208 46373208 single base substitution A G intron_variant MELA-AU 12 46373962 46373962 single base substitution A G intron_variant MELA-AU 12 46374239 46374239 single base substitution G A intron_variant MELA-AU 12 46374454 46374454 single base substitution T C intron_variant MELA-AU 12 46376287 46376287 single base substitution C T intron_variant MELA-AU 12 46376355 46376355 single base substitution G A intron_variant MELA-AU 12 46377105 46377105 single base substitution A T intron_variant MELA-AU 12 46377882 46377882 single base substitution T C intron_variant MELA-AU 12 46378142 46378142 single base substitution G A intron_variant MELA-AU 12 46378806 46378806 single base substitution G A intron_variant MELA-AU 12 46379794 46379794 single base substitution G A intron_variant MELA-AU 12 46381124 46381124 single base substitution G A intron_variant MELA-AU 12 46381454 46381454 single base substitution G A intron_variant MELA-AU 12 46382429 46382429 single base substitution A G intron_variant MELA-AU 12 46383685 46383685 single base substitution C G intron_variant MELA-AU 12 46387949 46387949 single base substitution C T upstream_gene_variant MELA-AU 12 46388480 46388480 single base substitution G A upstream_gene_variant MELA-AU 12 46389025 46389025 single base substitution C T upstream_gene_variant MELA-AU 12 46389974 46389974 single base substitution T C upstream_gene_variant MELA-AU 12 46390273 46390273 single base substitution A C upstream_gene_variant MELA-AU 12 46390332 46390332 single base substitution G A upstream_gene_variant MELA-AU 12 46390403 46390403 single base substitution C T upstream_gene_variant MELA-AU 12 46390480 46390480 single base substitution G A upstream_gene_variant MELA-AU 12 46390483 46390483 single base substitution T C upstream_gene_variant MELA-AU 12 46390617 46390617 single base substitution T A upstream_gene_variant ORCA-IN 12 46310550 46310550 single base substitution G A downstream_gene_variant ORCA-IN 12 46311616 46311616 single base substitution G C downstream_gene_variant ORCA-IN 12 46325903 46325903 single base substitution C T intron_variant ORCA-IN 12 46325903 46325903 single base substitution C T upstream_gene_variant ORCA-IN 12 46345500 46345500 single base substitution G T downstream_gene_variant ORCA-IN 12 46345500 46345500 single base substitution G T exon_variant ORCA-IN 12 46345500 46345500 single base substitution G T stop_gained S77* 230C>A ORCA-IN 12 46345500 46345500 single base substitution G T stop_gained S93* 278C>A ORCA-IN 12 46345500 46345500 single base substitution G T upstream_gene_variant ORCA-IN 12 46348040 46348040 single base substitution G C downstream_gene_variant ORCA-IN 12 46348040 46348040 single base substitution G C intron_variant OV-AU 12 46311234 46311234 single base substitution A T downstream_gene_variant OV-AU 12 46312083 46312083 single base substitution C A downstream_gene_variant OV-AU 12 46312478 46312478 single base substitution A T downstream_gene_variant OV-AU 12 46314393 46314393 single base substitution A G downstream_gene_variant OV-AU 12 46314393 46314393 single base substitution A G intron_variant OV-AU 12 46314953 46314953 single base substitution A T downstream_gene_variant OV-AU 12 46314953 46314953 single base substitution A T intron_variant OV-AU 12 46320660 46320660 single base substitution G A downstream_gene_variant OV-AU 12 46320660 46320660 single base substitution G A exon_variant OV-AU 12 46320660 46320660 single base substitution G A missense_variant P627S 1879C>T OV-AU 12 46320660 46320660 single base substitution G A missense_variant P750S 2248C>T OV-AU 12 46320660 46320660 single base substitution G A missense_variant P942S 2824C>T OV-AU 12 46320660 46320660 single base substitution G A upstream_gene_variant OV-AU 12 46326577 46326577 single base substitution G C intron_variant OV-AU 12 46326577 46326577 single base substitution G C upstream_gene_variant OV-AU 12 46329509 46329509 single base substitution A G intron_variant OV-AU 12 46329509 46329509 single base substitution A G upstream_gene_variant OV-AU 12 46334547 46334547 single base substitution T G downstream_gene_variant OV-AU 12 46334547 46334547 single base substitution T G intron_variant OV-AU 12 46338113 46338113 single base substitution C G downstream_gene_variant OV-AU 12 46338113 46338113 single base substitution C G intron_variant OV-AU 12 46343013 46343013 single base substitution C A intron_variant OV-AU 12 46343013 46343013 single base substitution C A upstream_gene_variant OV-AU 12 46347243 46347243 single base substitution C A downstream_gene_variant OV-AU 12 46347243 46347243 single base substitution C A intron_variant OV-AU 12 46347243 46347243 single base substitution C A upstream_gene_variant OV-AU 12 46348586 46348586 single base substitution C G 3_prime_UTR_variant OV-AU 12 46348586 46348586 single base substitution C G intron_variant OV-AU 12 46353617 46353617 single base substitution C T downstream_gene_variant OV-AU 12 46353617 46353617 single base substitution C T intron_variant OV-AU 12 46354591 46354591 single base substitution G A 3_prime_UTR_variant OV-AU 12 46354591 46354591 single base substitution G A downstream_gene_variant OV-AU 12 46354591 46354591 single base substitution G A intron_variant OV-AU 12 46359142 46359142 single base substitution G T intron_variant OV-AU 12 46359931 46359931 single base substitution C A intron_variant OV-AU 12 46363276 46363276 single base substitution T C intron_variant OV-AU 12 46364260 46364260 single base substitution T C intron_variant OV-AU 12 46371379 46371379 single base substitution C T intron_variant OV-AU 12 46371493 46371493 single base substitution A G intron_variant OV-AU 12 46378763 46378763 single base substitution C A intron_variant OV-AU 12 46379648 46379648 single base substitution C G intron_variant OV-AU 12 46380382 46380382 single base substitution T G intron_variant OV-AU 12 46383094 46383094 single base substitution A G intron_variant OV-AU 12 46388197 46388197 single base substitution G T upstream_gene_variant OV-US 12 46321679 46321679 single base substitution G C downstream_gene_variant OV-US 12 46321679 46321679 single base substitution G C exon_variant OV-US 12 46321679 46321679 single base substitution G C missense_variant T287R 860C>G OV-US 12 46321679 46321679 single base substitution G C missense_variant T410R 1229C>G OV-US 12 46321679 46321679 single base substitution G C missense_variant T602R 1805C>G OV-US 12 46321679 46321679 single base substitution G C upstream_gene_variant PACA-AU 12 46309024 46309024 single base substitution C T downstream_gene_variant PACA-AU 12 46309732 46309732 single base substitution G A downstream_gene_variant PACA-AU 12 46316262 46316262 single base substitution C A downstream_gene_variant PACA-AU 12 46316262 46316262 single base substitution C A exon_variant PACA-AU 12 46316262 46316262 single base substitution C A missense_variant R1095L 3284G>T PACA-AU 12 46316262 46316262 single base substitution C A missense_variant R1218L 3653G>T PACA-AU 12 46316262 46316262 single base substitution C A missense_variant R1410L 4229G>T PACA-AU 12 46316739 46316739 single base substitution C T downstream_gene_variant PACA-AU 12 46316739 46316739 single base substitution C T exon_variant PACA-AU 12 46316739 46316739 single base substitution C T intron_variant PACA-AU 12 46316739 46316739 single base substitution C T missense_variant D1054N 3160G>A PACA-AU 12 46316739 46316739 single base substitution C T missense_variant D1177N 3529G>A PACA-AU 12 46316739 46316739 single base substitution C T missense_variant D1369N 4105G>A PACA-AU 12 46320236 46320236 deletion of <=200bp T - downstream_gene_variant PACA-AU 12 46320236 46320236 deletion of <=200bp T - exon_variant PACA-AU 12 46320236 46320236 deletion of <=200bp T - frameshift_variant Y1083 PACA-AU 12 46320236 46320236 deletion of <=200bp T - frameshift_variant Y768 PACA-AU 12 46320236 46320236 deletion of <=200bp T - frameshift_variant Y891 PACA-AU 12 46320236 46320236 deletion of <=200bp T - upstream_gene_variant PACA-AU 12 46320779 46320779 single base substitution G A downstream_gene_variant PACA-AU 12 46320779 46320779 single base substitution G A exon_variant PACA-AU 12 46320779 46320779 single base substitution G A missense_variant S587F 1760C>T PACA-AU 12 46320779 46320779 single base substitution G A missense_variant S710F 2129C>T PACA-AU 12 46320779 46320779 single base substitution G A missense_variant S902F 2705C>T PACA-AU 12 46320779 46320779 single base substitution G A upstream_gene_variant PACA-AU 12 46322747 46322756 deletion of <=200bp TAAATACTTA - 5_prime_UTR_variant PACA-AU 12 46322747 46322756 deletion of <=200bp TAAATACTTA - downstream_gene_variant PACA-AU 12 46322747 46322756 deletion of <=200bp TAAATACTTA - intron_variant PACA-AU 12 46322747 46322756 deletion of <=200bp TAAATACTTA - upstream_gene_variant PACA-AU 12 46327813 46327813 deletion of <=200bp C - intron_variant PACA-AU 12 46327813 46327813 deletion of <=200bp C - upstream_gene_variant PACA-AU 12 46335950 46335950 single base substitution T C downstream_gene_variant PACA-AU 12 46335950 46335950 single base substitution T C intron_variant PACA-AU 12 46342702 46342702 single base substitution G T intron_variant PACA-AU 12 46342702 46342702 single base substitution G T upstream_gene_variant PACA-AU 12 46342869 46342869 single base substitution C T intron_variant PACA-AU 12 46342869 46342869 single base substitution C T upstream_gene_variant PACA-AU 12 46343875 46343875 single base substitution G A downstream_gene_variant PACA-AU 12 46343875 46343875 single base substitution G A intron_variant PACA-AU 12 46343875 46343875 single base substitution G A upstream_gene_variant PACA-AU 12 46347375 46347375 single base substitution T C downstream_gene_variant PACA-AU 12 46347375 46347375 single base substitution T C intron_variant PACA-AU 12 46347588 46347588 single base substitution G C downstream_gene_variant PACA-AU 12 46347588 46347588 single base substitution G C intron_variant PACA-AU 12 46348118 46348118 single base substitution C T downstream_gene_variant PACA-AU 12 46348118 46348118 single base substitution C T intron_variant PACA-AU 12 46348134 46348134 single base substitution G A downstream_gene_variant PACA-AU 12 46348134 46348134 single base substitution G A intron_variant PACA-AU 12 46351639 46351639 single base substitution A C downstream_gene_variant PACA-AU 12 46351639 46351639 single base substitution A C intron_variant PACA-AU 12 46354379 46354379 single base substitution T C 3_prime_UTR_variant PACA-AU 12 46354379 46354379 single base substitution T C downstream_gene_variant PACA-AU 12 46354379 46354379 single base substitution T C intron_variant PACA-AU 12 46357918 46357918 single base substitution C T 5_prime_UTR_variant PACA-AU 12 46357918 46357918 single base substitution C T exon_variant PACA-AU 12 46357918 46357918 single base substitution C T missense_variant M11I 33G>A PACA-AU 12 46357918 46357918 single base substitution C T missense_variant M27I 81G>A PACA-AU 12 46374630 46374665 deletion of <=200bp CCAAAATACCTGTGTTTGGGAGGAGTGTTCCTCCTC - intron_variant PACA-AU 12 46380074 46380080 deletion of <=200bp CTCTGGT - intron_variant PACA-AU 12 46389927 46389927 single base substitution G A upstream_gene_variant PACA-CA 12 46310100 46310100 single base substitution G A downstream_gene_variant PACA-CA 12 46318212 46318212 single base substitution G A downstream_gene_variant PACA-CA 12 46318212 46318212 single base substitution G A intron_variant PACA-CA 12 46318212 46318212 single base substitution G A upstream_gene_variant PACA-CA 12 46321666 46321666 single base substitution T C downstream_gene_variant PACA-CA 12 46321666 46321666 single base substitution T C exon_variant PACA-CA 12 46321666 46321666 single base substitution T C missense_variant I291M 873A>G PACA-CA 12 46321666 46321666 single base substitution T C missense_variant I414M 1242A>G PACA-CA 12 46321666 46321666 single base substitution T C missense_variant I606M 1818A>G PACA-CA 12 46321666 46321666 single base substitution T C upstream_gene_variant PACA-CA 12 46322260 46322260 single base substitution T A downstream_gene_variant PACA-CA 12 46322260 46322260 single base substitution T A exon_variant PACA-CA 12 46322260 46322260 single base substitution T A missense_variant E216D 648A>T PACA-CA 12 46322260 46322260 single base substitution T A missense_variant E408D 1224A>T PACA-CA 12 46322260 46322260 single base substitution T A missense_variant E93D 279A>T PACA-CA 12 46322260 46322260 single base substitution T A upstream_gene_variant PACA-CA 12 46332118 46332118 single base substitution C A intron_variant PACA-CA 12 46332118 46332118 single base substitution C A upstream_gene_variant PACA-CA 12 46337764 46337764 single base substitution T C downstream_gene_variant PACA-CA 12 46337764 46337764 single base substitution T C intron_variant PACA-CA 12 46338917 46338917 single base substitution G C downstream_gene_variant PACA-CA 12 46338917 46338917 single base substitution G C exon_variant PACA-CA 12 46338917 46338917 single base substitution G C intron_variant PACA-CA 12 46339398 46339398 single base substitution C T downstream_gene_variant PACA-CA 12 46339398 46339398 single base substitution C T intron_variant PACA-CA 12 46342687 46342687 single base substitution A G intron_variant PACA-CA 12 46342687 46342687 single base substitution A G upstream_gene_variant PACA-CA 12 46343999 46343999 single base substitution T C downstream_gene_variant PACA-CA 12 46343999 46343999 single base substitution T C intron_variant PACA-CA 12 46343999 46343999 single base substitution T C upstream_gene_variant PACA-CA 12 46351686 46351686 deletion of <=200bp T - downstream_gene_variant PACA-CA 12 46351686 46351686 deletion of <=200bp T - intron_variant PACA-CA 12 46351864 46351864 single base substitution T C downstream_gene_variant PACA-CA 12 46351864 46351864 single base substitution T C intron_variant PACA-CA 12 46354228 46354228 single base substitution G A downstream_gene_variant PACA-CA 12 46354228 46354228 single base substitution G A intron_variant PACA-CA 12 46355906 46355906 single base substitution A T intron_variant PACA-CA 12 46364487 46364487 single base substitution G A intron_variant PACA-CA 12 46365247 46365247 single base substitution G C intron_variant PACA-CA 12 46366664 46366664 single base substitution G T intron_variant PACA-CA 12 46366742 46366742 single base substitution G T intron_variant PACA-CA 12 46366746 46366746 single base substitution T G intron_variant PACA-CA 12 46367371 46367371 insertion of <=200bp - A intron_variant PACA-CA 12 46369840 46369840 insertion of <=200bp - CTA intron_variant PACA-CA 12 46379248 46379248 single base substitution T A intron_variant PACA-CA 12 46380372 46380372 single base substitution G C intron_variant PACA-CA 12 46381379 46381379 single base substitution G C intron_variant PACA-CA 12 46383958 46383958 single base substitution A G intron_variant PACA-CA 12 46384816 46384816 single base substitution T G intron_variant PACA-CA 12 46384816 46384816 single base substitution T G upstream_gene_variant PACA-CA 12 46386530 46386530 single base substitution G A upstream_gene_variant PACA-CA 12 46386667 46386667 single base substitution C T upstream_gene_variant PACA-CA 12 46386723 46386723 single base substitution C T upstream_gene_variant PACA-CA 12 46386777 46386777 single base substitution C T upstream_gene_variant PACA-CA 12 46387571 46387571 single base substitution A G upstream_gene_variant PACA-CA 12 46389936 46389936 single base substitution A T upstream_gene_variant PAEN-AU 12 46329096 46329096 single base substitution T C intron_variant PAEN-AU 12 46329096 46329096 single base substitution T C upstream_gene_variant PAEN-AU 12 46332344 46332344 single base substitution T C intron_variant PAEN-AU 12 46332344 46332344 single base substitution T C upstream_gene_variant PAEN-AU 12 46390874 46390874 single base substitution T G upstream_gene_variant PAEN-IT 12 46313232 46313232 single base substitution C A downstream_gene_variant PAEN-IT 12 46313232 46313232 single base substitution C A intron_variant PAEN-IT 12 46339926 46339926 single base substitution A C downstream_gene_variant PAEN-IT 12 46339926 46339926 single base substitution A C intron_variant PAEN-IT 12 46344201 46344201 single base substitution C T downstream_gene_variant PAEN-IT 12 46344201 46344201 single base substitution C T intron_variant PAEN-IT 12 46344201 46344201 single base substitution C T upstream_gene_variant PAEN-IT 12 46345755 46345755 single base substitution C T downstream_gene_variant PAEN-IT 12 46345755 46345755 single base substitution C T intron_variant PAEN-IT 12 46345755 46345755 single base substitution C T upstream_gene_variant PBCA-DE 12 46325238 46325238 single base substitution G T exon_variant PBCA-DE 12 46325238 46325238 single base substitution G T intron_variant PBCA-DE 12 46325238 46325238 single base substitution G T upstream_gene_variant PBCA-DE 12 46330101 46330101 insertion of <=200bp - G intron_variant PBCA-DE 12 46330101 46330101 insertion of <=200bp - G upstream_gene_variant PBCA-DE 12 46332810 46332810 single base substitution C T intron_variant PBCA-DE 12 46332810 46332810 single base substitution C T upstream_gene_variant PBCA-DE 12 46334027 46334027 insertion of <=200bp - A downstream_gene_variant PBCA-DE 12 46334027 46334027 insertion of <=200bp - A intron_variant PBCA-DE 12 46340662 46340662 single base substitution G A downstream_gene_variant PBCA-DE 12 46340662 46340662 single base substitution G A intron_variant PBCA-DE 12 46358450 46358450 deletion of <=200bp A - intron_variant PBCA-DE 12 46366698 46366698 single base substitution T G intron_variant PBCA-DE 12 46366703 46366703 single base substitution A C intron_variant PBCA-DE 12 46372724 46372724 deletion of <=200bp A - intron_variant PBCA-DE 12 46388659 46388659 single base substitution C T upstream_gene_variant PBCA-DE 12 46389302 46389302 single base substitution A G upstream_gene_variant PBCA-DE 12 46389931 46389931 single base substitution G A upstream_gene_variant PRAD-CA 12 46316746 46316746 single base substitution G A downstream_gene_variant PRAD-CA 12 46316746 46316746 single base substitution G A exon_variant PRAD-CA 12 46316746 46316746 single base substitution G A intron_variant PRAD-CA 12 46316746 46316746 single base substitution G A synonymous_variant A1051A 3153C>T PRAD-CA 12 46316746 46316746 single base substitution G A synonymous_variant A1174A 3522C>T PRAD-CA 12 46316746 46316746 single base substitution G A synonymous_variant A1366A 4098C>T PRAD-CA 12 46324239 46324239 single base substitution G T downstream_gene_variant PRAD-CA 12 46324239 46324239 single base substitution G T intron_variant PRAD-CA 12 46324239 46324239 single base substitution G T upstream_gene_variant PRAD-CA 12 46353057 46353057 single base substitution A T downstream_gene_variant PRAD-CA 12 46353057 46353057 single base substitution A T intron_variant PRAD-CA 12 46357811 46357811 single base substitution C A intron_variant PRAD-CA 12 46366692 46366692 single base substitution G T intron_variant PRAD-CA 12 46366703 46366703 single base substitution A C intron_variant PRAD-CA 12 46366712 46366712 single base substitution G T intron_variant PRAD-CA 12 46366714 46366714 single base substitution T G intron_variant PRAD-CA 12 46366722 46366722 single base substitution G T intron_variant PRAD-CA 12 46366734 46366734 single base substitution G T intron_variant PRAD-UK 12 46318909 46318909 single base substitution G A downstream_gene_variant PRAD-UK 12 46318909 46318909 single base substitution G A intron_variant PRAD-UK 12 46318909 46318909 single base substitution G A upstream_gene_variant PRAD-UK 12 46323669 46323669 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant PRAD-UK 12 46323669 46323669 single base substitution A G downstream_gene_variant PRAD-UK 12 46323669 46323669 single base substitution A G intron_variant PRAD-UK 12 46323669 46323669 single base substitution A G upstream_gene_variant PRAD-UK 12 46330831 46330831 insertion of <=200bp - T intron_variant PRAD-UK 12 46330831 46330831 insertion of <=200bp - T upstream_gene_variant PRAD-UK 12 46341484 46341484 single base substitution G C downstream_gene_variant PRAD-UK 12 46341484 46341484 single base substitution G C intron_variant PRAD-UK 12 46346605 46346605 single base substitution A C downstream_gene_variant PRAD-UK 12 46346605 46346605 single base substitution A C intron_variant PRAD-UK 12 46346605 46346605 single base substitution A C upstream_gene_variant PRAD-UK 12 46355265 46355265 single base substitution T A exon_variant PRAD-UK 12 46355265 46355265 single base substitution T A intron_variant PRAD-UK 12 46374885 46374885 single base substitution T C intron_variant PRAD-UK 12 46376322 46376322 single base substitution T C intron_variant PRAD-UK 12 46385807 46385807 single base substitution C G 5_prime_UTR_variant PRAD-UK 12 46385807 46385807 single base substitution C G upstream_gene_variant PRAD-US 12 46322640 46322640 single base substitution T A 5_prime_UTR_variant PRAD-US 12 46322640 46322640 single base substitution T A downstream_gene_variant PRAD-US 12 46322640 46322640 single base substitution T A missense_variant T282S 844A>T PRAD-US 12 46322640 46322640 single base substitution T A missense_variant T90S 268A>T PRAD-US 12 46322640 46322640 single base substitution T A splice_region_variant PRAD-US 12 46322640 46322640 single base substitution T A upstream_gene_variant READ-US 12 46322235 46322235 single base substitution G C downstream_gene_variant READ-US 12 46322235 46322235 single base substitution G C exon_variant READ-US 12 46322235 46322235 single base substitution G C missense_variant P102A 304C>G READ-US 12 46322235 46322235 single base substitution G C missense_variant P225A 673C>G READ-US 12 46322235 46322235 single base substitution G C missense_variant P417A 1249C>G READ-US 12 46322235 46322235 single base substitution G C upstream_gene_variant READ-US 12 46322313 46322313 single base substitution G A downstream_gene_variant READ-US 12 46322313 46322313 single base substitution G A exon_variant READ-US 12 46322313 46322313 single base substitution G A missense_variant R199W 595C>T READ-US 12 46322313 46322313 single base substitution G A missense_variant R391W 1171C>T READ-US 12 46322313 46322313 single base substitution G A missense_variant R76W 226C>T READ-US 12 46322313 46322313 single base substitution G A upstream_gene_variant RECA-EU 12 46318493 46318493 single base substitution G A downstream_gene_variant RECA-EU 12 46318493 46318493 single base substitution G A intron_variant RECA-EU 12 46318493 46318493 single base substitution G A upstream_gene_variant RECA-EU 12 46323221 46323221 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant RECA-EU 12 46323221 46323221 single base substitution G A downstream_gene_variant RECA-EU 12 46323221 46323221 single base substitution G A intron_variant RECA-EU 12 46323221 46323221 single base substitution G A upstream_gene_variant RECA-EU 12 46324542 46324542 single base substitution T A downstream_gene_variant RECA-EU 12 46324542 46324542 single base substitution T A intron_variant RECA-EU 12 46324542 46324542 single base substitution T A upstream_gene_variant RECA-EU 12 46327865 46327865 single base substitution T G intron_variant RECA-EU 12 46327865 46327865 single base substitution T G upstream_gene_variant RECA-EU 12 46337609 46337609 single base substitution G T downstream_gene_variant RECA-EU 12 46337609 46337609 single base substitution G T intron_variant RECA-EU 12 46344712 46344712 single base substitution T C downstream_gene_variant RECA-EU 12 46344712 46344712 single base substitution T C intron_variant RECA-EU 12 46344712 46344712 single base substitution T C upstream_gene_variant RECA-EU 12 46358653 46358653 single base substitution A T intron_variant RECA-EU 12 46363365 46363365 single base substitution T A intron_variant SKCA-BR 12 46309334 46309334 single base substitution C T downstream_gene_variant SKCA-BR 12 46315330 46315330 single base substitution G A 3_prime_UTR_variant SKCA-BR 12 46315330 46315330 single base substitution G A downstream_gene_variant SKCA-BR 12 46315330 46315330 single base substitution G A intron_variant SKCA-BR 12 46318565 46318565 single base substitution T G downstream_gene_variant SKCA-BR 12 46318565 46318565 single base substitution T G exon_variant SKCA-BR 12 46318565 46318565 single base substitution T G synonymous_variant P1092P 3276A>C SKCA-BR 12 46318565 46318565 single base substitution T G synonymous_variant P1284P 3852A>C SKCA-BR 12 46318565 46318565 single base substitution T G synonymous_variant P969P 2907A>C SKCA-BR 12 46318565 46318565 single base substitution T G upstream_gene_variant SKCA-BR 12 46320934 46320934 single base substitution G A downstream_gene_variant SKCA-BR 12 46320934 46320934 single base substitution G A exon_variant SKCA-BR 12 46320934 46320934 single base substitution G A synonymous_variant S535S 1605C>T SKCA-BR 12 46320934 46320934 single base substitution G A synonymous_variant S658S 1974C>T SKCA-BR 12 46320934 46320934 single base substitution G A synonymous_variant S850S 2550C>T SKCA-BR 12 46320934 46320934 single base substitution G A upstream_gene_variant SKCA-BR 12 46322370 46322370 single base substitution G A downstream_gene_variant SKCA-BR 12 46322370 46322370 single base substitution G A exon_variant SKCA-BR 12 46322370 46322370 single base substitution G A missense_variant P180S 538C>T SKCA-BR 12 46322370 46322370 single base substitution G A missense_variant P372S 1114C>T SKCA-BR 12 46322370 46322370 single base substitution G A missense_variant P57S 169C>T SKCA-BR 12 46322370 46322370 single base substitution G A upstream_gene_variant SKCA-BR 12 46323179 46323179 single base substitution G A 5_prime_UTR_variant SKCA-BR 12 46323179 46323179 single base substitution G A downstream_gene_variant SKCA-BR 12 46323179 46323179 single base substitution G A intron_variant SKCA-BR 12 46323179 46323179 single base substitution G A upstream_gene_variant SKCA-BR 12 46324398 46324398 single base substitution A G downstream_gene_variant SKCA-BR 12 46324398 46324398 single base substitution A G intron_variant SKCA-BR 12 46324398 46324398 single base substitution A G upstream_gene_variant SKCA-BR 12 46340424 46340425 deletion of <=200bp GA - downstream_gene_variant SKCA-BR 12 46340424 46340425 deletion of <=200bp GA - intron_variant SKCA-BR 12 46340734 46340734 single base substitution G A downstream_gene_variant SKCA-BR 12 46340734 46340734 single base substitution G A intron_variant SKCA-BR 12 46340735 46340735 single base substitution G T downstream_gene_variant SKCA-BR 12 46340735 46340735 single base substitution G T intron_variant SKCA-BR 12 46348516 46348517 deletion of <=200bp CT - 3_prime_UTR_variant SKCA-BR 12 46348516 46348517 deletion of <=200bp CT - intron_variant SKCA-BR 12 46362552 46362552 single base substitution C T intron_variant SKCA-BR 12 46366647 46366675 deletion of <=200bp CGATATATATATATATAGATATATATATA - intron_variant SKCA-BR 12 46366682 46366682 insertion of <=200bp - TAG intron_variant SKCA-BR 12 46366698 46366698 single base substitution T G intron_variant SKCA-BR 12 46366703 46366703 single base substitution A C intron_variant SKCA-BR 12 46366704 46366714 deletion of <=200bp GATATATAGAT - intron_variant SKCA-BR 12 46367059 46367059 single base substitution A G intron_variant SKCA-BR 12 46367944 46367944 single base substitution A G intron_variant SKCA-BR 12 46370067 46370067 single base substitution G A intron_variant SKCA-BR 12 46371243 46371243 single base substitution T G intron_variant SKCA-BR 12 46373950 46373950 single base substitution C T intron_variant SKCA-BR 12 46374128 46374128 single base substitution G A intron_variant SKCA-BR 12 46380282 46380282 single base substitution C T intron_variant SKCA-BR 12 46380303 46380303 single base substitution T C intron_variant SKCA-BR 12 46384363 46384363 single base substitution T C 5_prime_UTR_variant SKCA-BR 12 46384363 46384363 single base substitution T C intron_variant SKCA-BR 12 46384363 46384363 single base substitution T C upstream_gene_variant SKCA-BR 12 46384984 46384984 single base substitution A G intron_variant SKCA-BR 12 46384984 46384984 single base substitution A G upstream_gene_variant SKCA-BR 12 46386154 46386154 single base substitution T A upstream_gene_variant SKCM-US 12 46316814 46316814 single base substitution T G downstream_gene_variant SKCM-US 12 46316814 46316814 single base substitution T G exon_variant SKCM-US 12 46316814 46316814 single base substitution T G missense_variant S1029R 3085A>C SKCM-US 12 46316814 46316814 single base substitution T G missense_variant S1152R 3454A>C SKCM-US 12 46316814 46316814 single base substitution T G missense_variant S1344R 4030A>C SKCM-US 12 46316926 46316926 single base substitution A G downstream_gene_variant SKCM-US 12 46316926 46316926 single base substitution A G exon_variant SKCM-US 12 46316926 46316926 single base substitution A G synonymous_variant S1114S 3342T>C SKCM-US 12 46316926 46316926 single base substitution A G synonymous_variant S1306S 3918T>C SKCM-US 12 46316926 46316926 single base substitution A G synonymous_variant S991S 2973T>C SKCM-US 12 46316926 46316926 single base substitution A G upstream_gene_variant SKCM-US 12 46318574 46318574 single base substitution G A downstream_gene_variant SKCM-US 12 46318574 46318574 single base substitution G A synonymous_variant P1089P 3267C>T SKCM-US 12 46318574 46318574 single base substitution G A synonymous_variant P1281P 3843C>T SKCM-US 12 46318574 46318574 single base substitution G A synonymous_variant P966P 2898C>T SKCM-US 12 46318574 46318574 single base substitution G A upstream_gene_variant SKCM-US 12 46318575 46318577 deletion of <=200bp GGT - disruptive_inframe_deletion PP1088P SKCM-US 12 46318575 46318577 deletion of <=200bp GGT - disruptive_inframe_deletion PP1280P SKCM-US 12 46318575 46318577 deletion of <=200bp GGT - disruptive_inframe_deletion PP965P SKCM-US 12 46318575 46318577 deletion of <=200bp GGT - downstream_gene_variant SKCM-US 12 46318575 46318577 deletion of <=200bp GGT - upstream_gene_variant SKCM-US 12 46320217 46320217 single base substitution A C downstream_gene_variant SKCM-US 12 46320217 46320217 single base substitution A C exon_variant SKCM-US 12 46320217 46320217 single base substitution A C stop_gained Y1089* 3267T>G SKCM-US 12 46320217 46320217 single base substitution A C stop_gained Y774* 2322T>G SKCM-US 12 46320217 46320217 single base substitution A C stop_gained Y897* 2691T>G SKCM-US 12 46320217 46320217 single base substitution A C upstream_gene_variant SKCM-US 12 46320763 46320763 single base substitution G A downstream_gene_variant SKCM-US 12 46320763 46320763 single base substitution G A exon_variant SKCM-US 12 46320763 46320763 single base substitution G A synonymous_variant S592S 1776C>T SKCM-US 12 46320763 46320763 single base substitution G A synonymous_variant S715S 2145C>T SKCM-US 12 46320763 46320763 single base substitution G A synonymous_variant S907S 2721C>T SKCM-US 12 46320763 46320763 single base substitution G A upstream_gene_variant SKCM-US 12 46320912 46320912 single base substitution C T downstream_gene_variant SKCM-US 12 46320912 46320912 single base substitution C T exon_variant SKCM-US 12 46320912 46320912 single base substitution C T missense_variant E543K 1627G>A SKCM-US 12 46320912 46320912 single base substitution C T missense_variant E666K 1996G>A SKCM-US 12 46320912 46320912 single base substitution C T missense_variant E858K 2572G>A SKCM-US 12 46320912 46320912 single base substitution C T upstream_gene_variant SKCM-US 12 46320946 46320946 single base substitution G A downstream_gene_variant SKCM-US 12 46320946 46320946 single base substitution G A exon_variant SKCM-US 12 46320946 46320946 single base substitution G A synonymous_variant S531S 1593C>T SKCM-US 12 46320946 46320946 single base substitution G A synonymous_variant S654S 1962C>T SKCM-US 12 46320946 46320946 single base substitution G A synonymous_variant S846S 2538C>T SKCM-US 12 46320946 46320946 single base substitution G A upstream_gene_variant SKCM-US 12 46320976 46320976 single base substitution C T downstream_gene_variant SKCM-US 12 46320976 46320976 single base substitution C T exon_variant SKCM-US 12 46320976 46320976 single base substitution C T synonymous_variant K521K 1563G>A SKCM-US 12 46320976 46320976 single base substitution C T synonymous_variant K644K 1932G>A SKCM-US 12 46320976 46320976 single base substitution C T synonymous_variant K836K 2508G>A SKCM-US 12 46320976 46320976 single base substitution C T upstream_gene_variant SKCM-US 12 46320978 46320978 single base substitution T A downstream_gene_variant SKCM-US 12 46320978 46320978 single base substitution T A exon_variant SKCM-US 12 46320978 46320978 single base substitution T A stop_gained K521* 1561A>T SKCM-US 12 46320978 46320978 single base substitution T A stop_gained K644* 1930A>T SKCM-US 12 46320978 46320978 single base substitution T A stop_gained K836* 2506A>T SKCM-US 12 46320978 46320978 single base substitution T A upstream_gene_variant SKCM-US 12 46321226 46321226 single base substitution G A downstream_gene_variant SKCM-US 12 46321226 46321226 single base substitution G A exon_variant SKCM-US 12 46321226 46321226 single base substitution G A missense_variant S438F 1313C>T SKCM-US 12 46321226 46321226 single base substitution G A missense_variant S561F 1682C>T SKCM-US 12 46321226 46321226 single base substitution G A missense_variant S753F 2258C>T SKCM-US 12 46321226 46321226 single base substitution G A upstream_gene_variant SKCM-US 12 46321331 46321331 single base substitution G A downstream_gene_variant SKCM-US 12 46321331 46321331 single base substitution G A exon_variant SKCM-US 12 46321331 46321331 single base substitution G A missense_variant P403L 1208C>T SKCM-US 12 46321331 46321331 single base substitution G A missense_variant P526L 1577C>T SKCM-US 12 46321331 46321331 single base substitution G A missense_variant P718L 2153C>T SKCM-US 12 46321331 46321331 single base substitution G A upstream_gene_variant SKCM-US 12 46321796 46321796 single base substitution G A downstream_gene_variant SKCM-US 12 46321796 46321796 single base substitution G A exon_variant SKCM-US 12 46321796 46321796 single base substitution G A missense_variant P248L 743C>T SKCM-US 12 46321796 46321796 single base substitution G A missense_variant P371L 1112C>T SKCM-US 12 46321796 46321796 single base substitution G A missense_variant P563L 1688C>T SKCM-US 12 46321796 46321796 single base substitution G A upstream_gene_variant SKCM-US 12 46321886 46321886 single base substitution G A downstream_gene_variant SKCM-US 12 46321886 46321886 single base substitution G A exon_variant SKCM-US 12 46321886 46321886 single base substitution G A missense_variant S218L 653C>T SKCM-US 12 46321886 46321886 single base substitution G A missense_variant S341L 1022C>T SKCM-US 12 46321886 46321886 single base substitution G A missense_variant S533L 1598C>T SKCM-US 12 46321886 46321886 single base substitution G A upstream_gene_variant STAD-US 12 46316789 46316789 single base substitution G A downstream_gene_variant STAD-US 12 46316789 46316789 single base substitution G A exon_variant STAD-US 12 46316789 46316789 single base substitution G A missense_variant A1037V 3110C>T STAD-US 12 46316789 46316789 single base substitution G A missense_variant A1160V 3479C>T STAD-US 12 46316789 46316789 single base substitution G A missense_variant A1352V 4055C>T STAD-US 12 46316821 46316821 single base substitution C T downstream_gene_variant STAD-US 12 46316821 46316821 single base substitution C T exon_variant STAD-US 12 46316821 46316821 single base substitution C T synonymous_variant S1026S 3078G>A STAD-US 12 46316821 46316821 single base substitution C T synonymous_variant S1149S 3447G>A STAD-US 12 46316821 46316821 single base substitution C T synonymous_variant S1341S 4023G>A STAD-US 12 46316903 46316903 single base substitution A G downstream_gene_variant STAD-US 12 46316903 46316903 single base substitution A G exon_variant STAD-US 12 46316903 46316903 single base substitution A G missense_variant M1122T 3365T>C STAD-US 12 46316903 46316903 single base substitution A G missense_variant M1314T 3941T>C STAD-US 12 46316903 46316903 single base substitution A G missense_variant M999T 2996T>C STAD-US 12 46316903 46316903 single base substitution A G upstream_gene_variant STAD-US 12 46320292 46320292 single base substitution A G downstream_gene_variant STAD-US 12 46320292 46320292 single base substitution A G exon_variant STAD-US 12 46320292 46320292 single base substitution A G synonymous_variant G1064G 3192T>C STAD-US 12 46320292 46320292 single base substitution A G synonymous_variant G749G 2247T>C STAD-US 12 46320292 46320292 single base substitution A G synonymous_variant G872G 2616T>C STAD-US 12 46320292 46320292 single base substitution A G upstream_gene_variant STAD-US 12 46320310 46320310 single base substitution A G downstream_gene_variant STAD-US 12 46320310 46320310 single base substitution A G exon_variant STAD-US 12 46320310 46320310 single base substitution A G synonymous_variant S1058S 3174T>C STAD-US 12 46320310 46320310 single base substitution A G synonymous_variant S743S 2229T>C STAD-US 12 46320310 46320310 single base substitution A G synonymous_variant S866S 2598T>C STAD-US 12 46320310 46320310 single base substitution A G upstream_gene_variant STAD-US 12 46320326 46320326 single base substitution T C downstream_gene_variant STAD-US 12 46320326 46320326 single base substitution T C exon_variant STAD-US 12 46320326 46320326 single base substitution T C missense_variant E1053G 3158A>G STAD-US 12 46320326 46320326 single base substitution T C missense_variant E738G 2213A>G STAD-US 12 46320326 46320326 single base substitution T C missense_variant E861G 2582A>G STAD-US 12 46320326 46320326 single base substitution T C upstream_gene_variant STAD-US 12 46320408 46320408 single base substitution C A downstream_gene_variant STAD-US 12 46320408 46320408 single base substitution C A exon_variant STAD-US 12 46320408 46320408 single base substitution C A stop_gained E1026* 3076G>T STAD-US 12 46320408 46320408 single base substitution C A stop_gained E711* 2131G>T STAD-US 12 46320408 46320408 single base substitution C A stop_gained E834* 2500G>T STAD-US 12 46320408 46320408 single base substitution C A upstream_gene_variant STAD-US 12 46320453 46320453 single base substitution T C downstream_gene_variant STAD-US 12 46320453 46320453 single base substitution T C exon_variant STAD-US 12 46320453 46320453 single base substitution T C missense_variant N1011D 3031A>G STAD-US 12 46320453 46320453 single base substitution T C missense_variant N696D 2086A>G STAD-US 12 46320453 46320453 single base substitution T C missense_variant N819D 2455A>G STAD-US 12 46320453 46320453 single base substitution T C upstream_gene_variant STAD-US 12 46320657 46320657 insertion of <=200bp - G downstream_gene_variant STAD-US 12 46320657 46320657 insertion of <=200bp - G exon_variant STAD-US 12 46320657 46320657 insertion of <=200bp - G frameshift_variant S628S? STAD-US 12 46320657 46320657 insertion of <=200bp - G frameshift_variant S751S? STAD-US 12 46320657 46320657 insertion of <=200bp - G frameshift_variant S943S? STAD-US 12 46320657 46320657 insertion of <=200bp - G upstream_gene_variant STAD-US 12 46321589 46321589 single base substitution A G downstream_gene_variant STAD-US 12 46321589 46321589 single base substitution A G exon_variant STAD-US 12 46321589 46321589 single base substitution A G missense_variant V317A 950T>C STAD-US 12 46321589 46321589 single base substitution A G missense_variant V440A 1319T>C STAD-US 12 46321589 46321589 single base substitution A G missense_variant V632A 1895T>C STAD-US 12 46321589 46321589 single base substitution A G upstream_gene_variant STAD-US 12 46321761 46321761 single base substitution C G downstream_gene_variant STAD-US 12 46321761 46321761 single base substitution C G exon_variant STAD-US 12 46321761 46321761 single base substitution C G missense_variant V260L 778G>C STAD-US 12 46321761 46321761 single base substitution C G missense_variant V383L 1147G>C STAD-US 12 46321761 46321761 single base substitution C G missense_variant V575L 1723G>C STAD-US 12 46321761 46321761 single base substitution C G upstream_gene_variant STAD-US 12 46321969 46321969 single base substitution C T downstream_gene_variant STAD-US 12 46321969 46321969 single base substitution C T exon_variant STAD-US 12 46321969 46321969 single base substitution C T synonymous_variant L190L 570G>A STAD-US 12 46321969 46321969 single base substitution C T synonymous_variant L313L 939G>A STAD-US 12 46321969 46321969 single base substitution C T synonymous_variant L505L 1515G>A STAD-US 12 46321969 46321969 single base substitution C T upstream_gene_variant STAD-US 12 46322023 46322023 single base substitution A G downstream_gene_variant STAD-US 12 46322023 46322023 single base substitution A G exon_variant STAD-US 12 46322023 46322023 single base substitution A G synonymous_variant G172G 516T>C STAD-US 12 46322023 46322023 single base substitution A G synonymous_variant G295G 885T>C STAD-US 12 46322023 46322023 single base substitution A G synonymous_variant G487G 1461T>C STAD-US 12 46322023 46322023 single base substitution A G upstream_gene_variant STAD-US 12 46322094 46322094 single base substitution A G downstream_gene_variant STAD-US 12 46322094 46322094 single base substitution A G exon_variant STAD-US 12 46322094 46322094 single base substitution A G missense_variant Y149H 445T>C STAD-US 12 46322094 46322094 single base substitution A G missense_variant Y272H 814T>C STAD-US 12 46322094 46322094 single base substitution A G missense_variant Y464H 1390T>C STAD-US 12 46322094 46322094 single base substitution A G upstream_gene_variant STAD-US 12 46322307 46322307 single base substitution A G downstream_gene_variant STAD-US 12 46322307 46322307 single base substitution A G exon_variant STAD-US 12 46322307 46322307 single base substitution A G missense_variant S201P 601T>C STAD-US 12 46322307 46322307 single base substitution A G missense_variant S393P 1177T>C STAD-US 12 46322307 46322307 single base substitution A G missense_variant S78P 232T>C STAD-US 12 46322307 46322307 single base substitution A G upstream_gene_variant STAD-US 12 46326965 46326965 single base substitution C A exon_variant STAD-US 12 46326965 46326965 single base substitution C A missense_variant R228I 683G>T STAD-US 12 46326965 46326965 single base substitution C A missense_variant R36I 107G>T STAD-US 12 46326965 46326965 single base substitution C A upstream_gene_variant STAD-US 12 46327972 46327972 single base substitution A G exon_variant STAD-US 12 46327972 46327972 single base substitution A G missense_variant Y15H 43T>C STAD-US 12 46327972 46327972 single base substitution A G missense_variant Y207H 619T>C STAD-US 12 46327972 46327972 single base substitution A G upstream_gene_variant STAD-US 12 46355485 46355485 single base substitution C T exon_variant STAD-US 12 46355485 46355485 single base substitution C T missense_variant E73K 217G>A STAD-US 12 46355485 46355485 single base substitution C T missense_variant E89K 265G>A THCA-SA 12 46313187 46313187 single base substitution C G downstream_gene_variant THCA-SA 12 46313187 46313187 single base substitution C G intron_variant THCA-SA 12 46320999 46320999 single base substitution T C downstream_gene_variant THCA-SA 12 46320999 46320999 single base substitution T C exon_variant THCA-SA 12 46320999 46320999 single base substitution T C missense_variant K514E 1540A>G THCA-SA 12 46320999 46320999 single base substitution T C missense_variant K637E 1909A>G THCA-SA 12 46320999 46320999 single base substitution T C missense_variant K829E 2485A>G THCA-SA 12 46320999 46320999 single base substitution T C upstream_gene_variant THCA-SA 12 46321514 46321514 single base substitution A T downstream_gene_variant THCA-SA 12 46321514 46321514 single base substitution A T exon_variant THCA-SA 12 46321514 46321514 single base substitution A T missense_variant F342Y 1025T>A THCA-SA 12 46321514 46321514 single base substitution A T missense_variant F465Y 1394T>A THCA-SA 12 46321514 46321514 single base substitution A T missense_variant F657Y 1970T>A THCA-SA 12 46321514 46321514 single base substitution A T upstream_gene_variant THCA-US 12 46322574 46322574 single base substitution T A 5_prime_UTR_variant THCA-US 12 46322574 46322574 single base substitution T A downstream_gene_variant THCA-US 12 46322574 46322574 single base substitution T A exon_variant THCA-US 12 46322574 46322574 single base substitution T A missense_variant T112S 334A>T THCA-US 12 46322574 46322574 single base substitution T A missense_variant T304S 910A>T THCA-US 12 46322574 46322574 single base substitution T A upstream_gene_variant UCEC-US 12 46316294 46316294 single base substitution A G downstream_gene_variant UCEC-US 12 46316294 46316294 single base substitution A G exon_variant UCEC-US 12 46316294 46316294 single base substitution A G synonymous_variant D1084D 3252T>C UCEC-US 12 46316294 46316294 single base substitution A G synonymous_variant D1207D 3621T>C UCEC-US 12 46316294 46316294 single base substitution A G synonymous_variant D1399D 4197T>C UCEC-US 12 46320332 46320332 single base substitution C A downstream_gene_variant UCEC-US 12 46320332 46320332 single base substitution C A exon_variant UCEC-US 12 46320332 46320332 single base substitution C A missense_variant R1051I 3152G>T UCEC-US 12 46320332 46320332 single base substitution C A missense_variant R736I 2207G>T UCEC-US 12 46320332 46320332 single base substitution C A missense_variant R859I 2576G>T UCEC-US 12 46320332 46320332 single base substitution C A upstream_gene_variant UCEC-US 12 46320497 46320497 single base substitution G A downstream_gene_variant UCEC-US 12 46320497 46320497 single base substitution G A missense_variant T681I 2042C>T UCEC-US 12 46320497 46320497 single base substitution G A missense_variant T804I 2411C>T UCEC-US 12 46320497 46320497 single base substitution G A missense_variant T996I 2987C>T UCEC-US 12 46320497 46320497 single base substitution G A upstream_gene_variant UCEC-US 12 46320729 46320729 single base substitution C A downstream_gene_variant UCEC-US 12 46320729 46320729 single base substitution C A exon_variant UCEC-US 12 46320729 46320729 single base substitution C A missense_variant D604Y 1810G>T UCEC-US 12 46320729 46320729 single base substitution C A missense_variant D727Y 2179G>T UCEC-US 12 46320729 46320729 single base substitution C A missense_variant D919Y 2755G>T UCEC-US 12 46320729 46320729 single base substitution C A upstream_gene_variant UCEC-US 12 46320850 46320850 single base substitution A G downstream_gene_variant UCEC-US 12 46320850 46320850 single base substitution A G exon_variant UCEC-US 12 46320850 46320850 single base substitution A G synonymous_variant S563S 1689T>C UCEC-US 12 46320850 46320850 single base substitution A G synonymous_variant S686S 2058T>C UCEC-US 12 46320850 46320850 single base substitution A G synonymous_variant S878S 2634T>C UCEC-US 12 46320850 46320850 single base substitution A G upstream_gene_variant UCEC-US 12 46321008 46321008 single base substitution C A downstream_gene_variant UCEC-US 12 46321008 46321008 single base substitution C A exon_variant UCEC-US 12 46321008 46321008 single base substitution C A stop_gained E511* 1531G>T UCEC-US 12 46321008 46321008 single base substitution C A stop_gained E634* 1900G>T UCEC-US 12 46321008 46321008 single base substitution C A stop_gained E826* 2476G>T UCEC-US 12 46321008 46321008 single base substitution C A upstream_gene_variant UCEC-US 12 46321011 46321011 single base substitution T C downstream_gene_variant UCEC-US 12 46321011 46321011 single base substitution T C exon_variant UCEC-US 12 46321011 46321011 single base substitution T C missense_variant K510E 1528A>G UCEC-US 12 46321011 46321011 single base substitution T C missense_variant K633E 1897A>G UCEC-US 12 46321011 46321011 single base substitution T C missense_variant K825E 2473A>G UCEC-US 12 46321011 46321011 single base substitution T C upstream_gene_variant UCEC-US 12 46321128 46321128 single base substitution T G downstream_gene_variant UCEC-US 12 46321128 46321128 single base substitution T G exon_variant UCEC-US 12 46321128 46321128 single base substitution T G missense_variant K471Q 1411A>C UCEC-US 12 46321128 46321128 single base substitution T G missense_variant K594Q 1780A>C UCEC-US 12 46321128 46321128 single base substitution T G missense_variant K786Q 2356A>C UCEC-US 12 46321128 46321128 single base substitution T G upstream_gene_variant UCEC-US 12 46321208 46321208 single base substitution G A downstream_gene_variant UCEC-US 12 46321208 46321208 single base substitution G A exon_variant UCEC-US 12 46321208 46321208 single base substitution G A missense_variant S444F 1331C>T UCEC-US 12 46321208 46321208 single base substitution G A missense_variant S567F 1700C>T UCEC-US 12 46321208 46321208 single base substitution G A missense_variant S759F 2276C>T UCEC-US 12 46321208 46321208 single base substitution G A upstream_gene_variant UCEC-US 12 46321461 46321461 single base substitution T C downstream_gene_variant UCEC-US 12 46321461 46321461 single base substitution T C exon_variant UCEC-US 12 46321461 46321461 single base substitution T C missense_variant T360A 1078A>G UCEC-US 12 46321461 46321461 single base substitution T C missense_variant T483A 1447A>G UCEC-US 12 46321461 46321461 single base substitution T C missense_variant T675A 2023A>G UCEC-US 12 46321461 46321461 single base substitution T C upstream_gene_variant UCEC-US 12 46321609 46321609 single base substitution T G downstream_gene_variant UCEC-US 12 46321609 46321609 single base substitution T G exon_variant UCEC-US 12 46321609 46321609 single base substitution T G missense_variant Q310H 930A>C UCEC-US 12 46321609 46321609 single base substitution T G missense_variant Q433H 1299A>C UCEC-US 12 46321609 46321609 single base substitution T G missense_variant Q625H 1875A>C UCEC-US 12 46321609 46321609 single base substitution T G upstream_gene_variant UCEC-US 12 46321688 46321688 single base substitution G A downstream_gene_variant UCEC-US 12 46321688 46321688 single base substitution G A exon_variant UCEC-US 12 46321688 46321688 single base substitution G A missense_variant T284I 851C>T UCEC-US 12 46321688 46321688 single base substitution G A missense_variant T407I 1220C>T UCEC-US 12 46321688 46321688 single base substitution G A missense_variant T599I 1796C>T UCEC-US 12 46321688 46321688 single base substitution G A upstream_gene_variant UCEC-US 12 46321933 46321933 single base substitution T G downstream_gene_variant UCEC-US 12 46321933 46321933 single base substitution T G exon_variant UCEC-US 12 46321933 46321933 single base substitution T G missense_variant E202D 606A>C UCEC-US 12 46321933 46321933 single base substitution T G missense_variant E325D 975A>C UCEC-US 12 46321933 46321933 single base substitution T G missense_variant E517D 1551A>C UCEC-US 12 46321933 46321933 single base substitution T G upstream_gene_variant UCEC-US 12 46322089 46322089 single base substitution A G downstream_gene_variant UCEC-US 12 46322089 46322089 single base substitution A G exon_variant UCEC-US 12 46322089 46322089 single base substitution A G synonymous_variant D150D 450T>C UCEC-US 12 46322089 46322089 single base substitution A G synonymous_variant D273D 819T>C UCEC-US 12 46322089 46322089 single base substitution A G synonymous_variant D465D 1395T>C UCEC-US 12 46322089 46322089 single base substitution A G upstream_gene_variant UCEC-US 12 46322550 46322550 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 12 46322550 46322550 single base substitution G A downstream_gene_variant UCEC-US 12 46322550 46322550 single base substitution G A exon_variant UCEC-US 12 46322550 46322550 single base substitution G A stop_gained R120* 358C>T UCEC-US 12 46322550 46322550 single base substitution G A stop_gained R312* 934C>T UCEC-US 12 46322550 46322550 single base substitution G A upstream_gene_variant UCEC-US 12 46325298 46325298 single base substitution C T exon_variant UCEC-US 12 46325298 46325298 single base substitution C T missense_variant E278K 832G>A UCEC-US 12 46325298 46325298 single base substitution C T missense_variant E86K 256G>A UCEC-US 12 46325298 46325298 single base substitution C T upstream_gene_variant UCEC-US 12 46325330 46325330 single base substitution C A exon_variant UCEC-US 12 46325330 46325330 single base substitution C A missense_variant R267I 800G>T UCEC-US 12 46325330 46325330 single base substitution C A missense_variant R75I 224G>T UCEC-US 12 46325330 46325330 single base substitution C A upstream_gene_variant UCEC-US 12 46327011 46327011 single base substitution C A exon_variant UCEC-US 12 46327011 46327011 single base substitution C A stop_gained E213* 637G>T UCEC-US 12 46327011 46327011 single base substitution C A stop_gained E21* 61G>T UCEC-US 12 46327011 46327011 single base substitution C A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 10-104 COSM3736596 c.2780G>A p.R927K Substitution - Missense 12:45926921-45926921 - Pat_53_A COSM392821 c.2776_2777delGA p.E926fs*8 Deletion - Frameshift 12:45926924-45926925 - RK308_C01 COSM3739673 c.2441C>A p.P814H Substitution - Missense 12:45927260-45927260 - STC252 COSM5051596 c.3813T>C p.S1271S Substitution - coding silent 12:45924821-45924821 - CHC2034T COSM4789848 c.4006A>C p.S1336R Substitution - Missense 12:45923055-45923055 - TCGA-C8-A1HM-01 COSM431134 c.2708C>T p.P903L Substitution - Missense 12:45926993-45926993 - PTC_462 COSM5958559 c.2485A>G p.K829E Substitution - Missense 12:45927216-45927216 - TCGA-AA-A010-01 COSM285365 c.3929T>C p.V1310A Substitution - Missense 12:45923132-45923132 - Pat_06_B COSM5018692 c.3840_3842delACC p.P1285delP Deletion - In frame 12:45924792-45924794 - T3190 COSM4723814 c.734+2delT p.? Unknown 12:45933129-45933129 - TCGA-AA-A010-01 COSM285366 c.3251G>T p.R1084I Substitution - Missense 12:45926450-45926450 - 134427 COSM326455 c.3821A>T p.Q1274L Substitution - Missense 12:45924813-45924813 - TCGA-AD-6901-01 COSM1361710 c.4120G>T p.D1374Y Substitution - Missense 12:45922941-45922941 - HCT-15 COSM1676893 c.2039C>A p.S680Y Substitution - Missense 12:45927662-45927662 - MD-319 COSM303188 c.3731G>A p.R1244H Substitution - Missense 12:45924903-45924903 - PTC-7C COSM3753232 c.1970T>A p.F657Y Substitution - Missense 12:45927731-45927731 - TCGA-18-3416-01 COSM693893 c.2795G>T p.W932L Substitution - Missense 12:45926906-45926906 - HCC2998 COSM1676892 c.2188G>T p.E730* Substitution - Nonsense 12:45927513-45927513 - TCGA-BS-A0UV-01 COSM939546 c.637G>T p.E213* Substitution - Nonsense 12:45933228-45933228 - UACC-257 COSM1676891 c.2408C>T p.P803L Substitution - Missense 12:45927293-45927293 - TCGA-CG-5721-01 COSM4042011 c.1461T>C p.G487G Substitution - coding silent 12:45928240-45928240 - T3174 COSM4723808 c.3491G>A p.R1164Q Substitution - Missense 12:45926210-45926210 - TCGA-CM-5861-01 COSM1361729 c.61+2T>C p.? Unknown 12:45964105-45964105 - PCSI_0274_Pa_P_526 COSM4808661 c.1818A>G p.I606M Substitution - Missense 12:45927883-45927883 - TCGA-G4-6309-01 COSM1361720 c.1759_1760delAG p.S587fs*7 Deletion - Frameshift 12:45927941-45927942 - Pat_15_B COSM5841000 c.2486A>G p.K829R Substitution - Missense 12:45927215-45927215 - TCGA-13-0792-01 COSM78476 c.303A>T p.Q101H Substitution - Missense 12:45948532-45948532 - TCGA-AA-3510-01 COSM1361714 c.3182A>C p.K1061T Substitution - Missense 12:45926519-45926519 - ESO-0013 COSM1265410 c.3931A>G p.S1311G Substitution - Missense 12:45923130-45923130 - CSCC-41-T COSM4483238 c.2686C>T p.P896S Substitution - Missense 12:45927015-45927015 - TCGA-AN-A046-01 COSM3812052 c.1834G>T p.E612* Substitution - Nonsense 12:45927867-45927867 - 8014187 COSM3384364 c.2705C>T p.S902F Substitution - Missense 12:45926996-45926996 - 3N05-VS-3T05 COSM4978737 c.2596T>C p.S866P Substitution - Missense 12:45927105-45927105 - CSCC-11-T COSM4542490 c.3196G>A p.G1066S Substitution - Missense 12:45926505-45926505 - TCGA-CK-5912-01 COSM1361711 c.4102G>A p.A1368T Substitution - Missense 12:45922959-45922959 - CSCC-62-T COSM4547071 c.4147G>A p.A1383T Substitution - Missense 12:45922561-45922561 - TCGA-26-5134-01 COSM2157033 c.16G>A p.V6I Substitution - Missense 12:45964152-45964152 - Pat_06_B COSM392821 c.2776_2777delGA p.E926fs*8 Deletion - Frameshift 12:45926924-45926925 - Pat_58_B COSM392821 c.2776_2777delGA p.E926fs*8 Deletion - Frameshift 12:45926924-45926925 - 587316 COSM1225468 c.563A>T p.N188I Substitution - Missense 12:45934245-45934245 - TCGA-EE-A29E-06 COSM3460997 c.1598C>T p.S533L Substitution - Missense 12:45928103-45928103 - TCGA-BS-A0UJ-01 COSM939529 c.4197T>C p.D1399D Substitution - coding silent 12:45922511-45922511 - TCGA-B5-A0JY-01 COSM939545 c.800G>T p.R267I Substitution - Missense 12:45931547-45931547 - Pat_74_B COSM5840998 c.3365C>T p.S1122F Substitution - Missense 12:45926336-45926336 - 1604875 COSM141378 c.1151C>T p.P384L Substitution - Missense 12:45928550-45928550 - Pat_53_B COSM392821 c.2776_2777delGA p.E926fs*8 Deletion - Frameshift 12:45926924-45926925 - SJDOSTEOS010 COSM1179053 c.3482A>G p.Y1161C Substitution - Missense 12:45926219-45926219 - RK121_C01 COSM3739672 c.3754C>T p.Q1252* Substitution - Nonsense 12:45924880-45924880 - RKO COSM4647617 c.108T>C p.S36S Substitution - coding silent 12:45961811-45961811 - TCGA-BR-6452-01 COSM4042000 c.4055C>T p.A1352V Substitution - Missense 12:45923006-45923006 - HCC2998 COSM939530 c.3152G>T p.R1051I Substitution - Missense 12:45926549-45926549 - TCGA-EE-A2MS-06 COSM3460991 c.3267T>G p.Y1089* Substitution - Nonsense 12:45926434-45926434 - TCGA-FK-A3S3-01 COSM3368820 c.910A>T p.T304S Substitution - Missense 12:45928791-45928791 - YUZINO COSM1705493 c.2419_2420AC>TT p.T807F Substitution - Missense 12:45927281-45927282 - TCGA-B0-4815-01 COSM468386 c.154G>A p.E52K Substitution - Missense 12:45961765-45961765 - CRC-19T COSM5481046 c.1248A>G p.S416S Substitution - coding silent 12:45928453-45928453 - HCC2998 COSM939530 c.3152G>T p.R1051I Substitution - Missense 12:45926549-45926549 - 587376 COSM1225471 c.496A>G p.K166E Substitution - Missense 12:45934473-45934473 - TCGA-CZ-5468-01 COSM468381 c.1634A>G p.H545R Substitution - Missense 12:45928067-45928067 - HCC058T COSM5805378 c.2509A>G p.N837D Substitution - Missense 12:45927192-45927192 - CX-1 COSM2067942 c.1731A>T p.S577S Substitution - coding silent 12:45927970-45927970 - HCC103T COSM3704151 c.2105T>G p.I702S Substitution - Missense 12:45927596-45927596 - Pat_54_A COSM5018692 c.3840_3842delACC p.P1285delP Deletion - In frame 12:45924792-45924794 - TCGA-DK-A1AB-01 COSM415851 c.3851C>A p.P1284Q Substitution - Missense 12:45924783-45924783 - HCC2998 COSM1676895 c.638A>C p.E213A Substitution - Missense 12:45933227-45933227 - CHC2034T COSM4789848 c.4006A>C p.S1336R Substitution - Missense 12:45923055-45923055 - TCGA-G4-6628-01 COSM1361725 c.312_313insA p.Q105fs*11 Insertion - Frameshift 12:45948522-45948523 - TCGA-CA-6717-01 COSM1361708 c.4345A>C p.K1449Q Substitution - Missense 12:45922095-45922095 - HCT15 COSM2067946 c.1660T>G p.L554V Substitution - Missense 12:45928041-45928041 - cSCCP8 COSM143727 c.3694_3695CC>TT p.P1232L Substitution - Missense 12:45924939-45924940 - sysucc-311T COSM5478263 c.1530G>T p.E510D Substitution - Missense 12:45928171-45928171 - TCGA-A5-A0GA-01 COSM939531 c.3054T>C p.N1018N Substitution - coding silent 12:45926647-45926647 - TCGA-EE-A3J5-06 COSM3460990 c.3843C>T p.P1281P Substitution - coding silent 12:45924791-45924791 - PT33 COSM5909293 c.166C>T p.P56S Substitution - Missense 12:45961753-45961753 - S00830 COSM318011 c.177T>C p.C59C Substitution - coding silent 12:45961742-45961742 - HCC128T COSM1606152 c.686A>T p.H229L Substitution - Missense 12:45933179-45933179 - TCGA-F5-6814-01 COSM3416868 c.1171C>T p.R391W Substitution - Missense 12:45928530-45928530 - 24T COSM107231 c.1744G>A p.E582K Substitution - Missense 12:45927957-45927957 - TCGA-39-5031-01 COSM693890 c.1079C>T p.S360F Substitution - Missense 12:45928622-45928622 - TCGA-BS-A0UF-01 COSM939541 c.1796C>T p.T599I Substitution - Missense 12:45927905-45927905 - TCGA-CA-6717-01 COSM1361713 c.3981A>G p.G1327G Substitution - coding silent 12:45923080-45923080 - ICGC_0018 COSM218405 c.3248delA p.Y1083fs*68 Deletion - Frameshift 12:45926453-45926453 - TCGA-BR-8680-01 COSM4042014 c.683G>T p.R228I Substitution - Missense 12:45933182-45933182 - ZZUFHECRKL-G056T COSM2067936 c.2274G>A p.P758P Substitution - coding silent 12:45927427-45927427 - TCGA-EE-A3J5-06 COSM3460996 c.1688C>T p.P563L Substitution - Missense 12:45928013-45928013 - TCGA-CK-5913-01 COSM1361709 c.4303G>A p.A1435T Substitution - Missense 12:45922137-45922137 - TCGA-85-6561-01 COSM548402 c.4112C>A p.S1371* Substitution - Nonsense 12:45922949-45922949 - TCGA-B5-A11E-01 COSM939533 c.2755G>T p.D919Y Substitution - Missense 12:45926946-45926946 - ASHPC_0031_Pa_P COSM4962795 c.1224A>T p.E408D Substitution - Missense 12:45928477-45928477 - TARGET-30-PARABJ COSM1287850 c.2838A>G p.R946R Substitution - coding silent 12:45926863-45926863 - Pat_70_B COSM5018692 c.3840_3842delACC p.P1285delP Deletion - In frame 12:45924792-45924794 - TCGA-BS-A0UV-01 COSM189064 c.832G>A p.E278K Substitution - Missense 12:45931515-45931515 - 587226 COSM1225466 c.3830C>T p.P1277L Substitution - Missense 12:45924804-45924804 - YUKAT COSM5375182 c.2141A>G p.N714S Substitution - Missense 12:45927560-45927560 - LUAD-CHTN-MAD06-00668 COSM358687 c.1680G>A p.V560V Substitution - coding silent 12:45928021-45928021 - TCGA-BR-8680-01 COSM4042006 c.3076G>T p.E1026* Substitution - Nonsense 12:45926625-45926625 - TCGA-BS-A0UJ-01 COSM939536 c.2473A>G p.K825E Substitution - Missense 12:45927228-45927228 - TCGA-AP-A051-01 COSM939534 c.2634T>C p.S878S Substitution - coding silent 12:45927067-45927067 - HT115 COSM2067926 c.2743G>A p.E915K Substitution - Missense 12:45926958-45926958 - YURAY COSM5375183 c.89C>T p.S30F Substitution - Missense 12:45961830-45961830 - HCT15 COSM1676893 c.2039C>A p.S680Y Substitution - Missense 12:45927662-45927662 - TCGA-MH-A55W-01 COSM3986930 c.394A>G p.I132V Substitution - Missense 12:45948441-45948441 - HCC30 COSM1606151 c.3517C>A p.Q1173K Substitution - Missense 12:45926184-45926184 - TCGA-BR-6452-01 COSM4042008 c.1895T>C p.V632A Substitution - Missense 12:45927806-45927806 - ESO-1130 COSM1265412 c.1843G>T p.E615* Substitution - Nonsense 12:45927858-45927858 - PT51 COSM5938325 c.3920C>T p.S1307F Substitution - Missense 12:45923141-45923141 - T368 COSM4723811 c.2539C>T p.R847C Substitution - Missense 12:45927162-45927162 - CSCC-44-T COSM4491479 c.3810C>T p.T1270T Substitution - coding silent 12:45924824-45924824 - OSCC-GB_00010111 COSM3710754 c.230C>A p.S77* Substitution - Nonsense 12:45951717-45951717 - TCGA-AA-3510-01 COSM1361707 c.4347G>T p.K1449N Substitution - Missense 12:45922093-45922093 - BD173T COSM5500538 c.4272A>C p.V1424V Substitution - coding silent 12:45922168-45922168 - 587238 COSM1225467 c.3730C>T p.R1244C Substitution - Missense 12:45924904-45924904 - Pat_59_B COSM5840999 c.2549C>T p.S850F Substitution - Missense 12:45927152-45927152 - TCGA-R2-A69V-01 COSM4851143 c.3076G>A p.E1026K Substitution - Missense 12:45926625-45926625 - HCC128 COSM1606152 c.686A>T p.H229L Substitution - Missense 12:45933179-45933179 - HCT15 COSM2067924 c.2802G>A p.R934R Substitution - coding silent 12:45926899-45926899 - SNUH_G16_S1 COSM147486 c.1035G>A p.G345G Substitution - coding silent 12:45928666-45928666 - PT52 COSM5940333 c.3286C>T p.R1096W Substitution - Missense 12:45926415-45926415 - TCGA-22-5478-01 COSM693894 c.2934A>G p.P978P Substitution - coding silent 12:45926767-45926767 - SA214 COSM213956 c.1084G>A p.A362T Substitution - Missense 12:45928617-45928617 - DLD1 COSM4622624 c.2916T>C p.N972N Substitution - coding silent 12:45926785-45926785 - TCGA-R2-A69V-01 COSM4851134 c.2789G>A p.R930K Substitution - Missense 12:45926912-45926912 - T3080 COSM4723809 c.3448G>A p.V1150M Substitution - Missense 12:45926253-45926253 - TCGA-CG-5721-01 COSM4042001 c.4023G>A p.S1341S Substitution - coding silent 12:45923038-45923038 - TCGA-BP-5168-01 COSM468382 c.1018A>T p.I340L Substitution - Missense 12:45928683-45928683 - 200T COSM1726582 c.1375A>G p.K459E Substitution - Missense 12:45928326-45928326 - Pat_41_A COSM5841006 c.296A>G p.K99R Substitution - Missense 12:45951651-45951651 - WSU-HN6 COSM4602127 c.2192C>G p.S731C Substitution - Missense 12:45927509-45927509 - Gp5D COSM2067953 c.1196A>T p.K399I Substitution - Missense 12:45928505-45928505 - TCGA-A3-3373-01 COSM468383 c.489A>G p.G163G Substitution - coding silent 12:45934480-45934480 - 1T COSM3710754 c.230C>A p.S77* Substitution - Nonsense 12:45951717-45951717 - TCGA-BR-7851-01 COSM4042015 c.619T>C p.Y207H Substitution - Missense 12:45934189-45934189 - I2L-P10-Tumor-Organoid COSM189064 c.832G>A p.E278K Substitution - Missense 12:45931515-45931515 - pfg008T COSM1639135 c.405A>C p.K135N Substitution - Missense 12:45945307-45945307 - TCGA-F1-A448-01 COSM4042002 c.3941T>C p.M1314T Substitution - Missense 12:45923120-45923120 - CPCG0346-F1 COSM4880343 c.4098C>T p.A1366A Substitution - coding silent 12:45922963-45922963 - TCGA-CD-8535-01 COSM4042016 c.217G>A p.E73K Substitution - Missense 12:45961702-45961702 - pfg143T COSM4723813 c.2009delA p.N670fs*4 Deletion - Frameshift 12:45927692-45927692 - Pat_26_A COSM5841002 c.1739A>T p.N580I Substitution - Missense 12:45927962-45927962 - TCGA-AP-A051-01 COSM939532 c.2987C>T p.T996I Substitution - Missense 12:45926714-45926714 - CRC-8 COSM304522 c.561A>C p.R187S Substitution - Missense 12:45934247-45934247 - TCGA-BT-A20V-01 COSM415850 c.3388G>C p.E1130Q Substitution - Missense 12:45926313-45926313 - Pat_32_A COSM5841003 c.935G>A p.R312Q Substitution - Missense 12:45928766-45928766 - TCGA-CD-5801-01 COSM4042004 c.3174T>C p.S1058S Substitution - coding silent 12:45926527-45926527 - TCGA-AA-A010-01 COSM285368 c.2857T>C p.S953P Substitution - Missense 12:45926844-45926844 - HCC058T COSM5804376 c.2877A>T p.R959S Substitution - Missense 12:45926824-45926824 - CSCC-27-T COSM4493250 c.411C>T p.I137I Substitution - coding silent 12:45945301-45945301 - 169 COSM3728667 c.354T>C p.F118F Substitution - coding silent 12:45948481-45948481 - S00830 COSM318011 c.177T>C p.C59C Substitution - coding silent 12:45961742-45961742 - TCGA-AA-3492-01 COSM1361717 c.2061G>A p.S687S Substitution - coding silent 12:45927640-45927640 - HCC103 COSM3704151 c.2105T>G p.I702S Substitution - Missense 12:45927596-45927596 - LUAD-RT-S01711 COSM380105 c.3235G>A p.G1079S Substitution - Missense 12:45926466-45926466 - TCGA-AP-A056-01 COSM939540 c.1875A>C p.Q625H Substitution - Missense 12:45927826-45927826 - TCGA-14-1034 COSM2157647 c.993_994insC p.A332fs*16 Insertion - Frameshift 12:45928707-45928708 - ESCC_31 COSM5627763 c.1933A>G p.I645V Substitution - Missense 12:45927768-45927768 - Pat_41_B COSM5841006 c.296A>G p.K99R Substitution - Missense 12:45951651-45951651 - ESO-720 COSM1265413 c.3475C>T p.Q1159* Substitution - Nonsense 12:45926226-45926226 - TCGA-AM-5821-01 COSM3753232 c.1970T>A p.F657Y Substitution - Missense 12:45927731-45927731 - AOCS-137-3-7 COSM4150096 c.2824C>T p.P942S Substitution - Missense 12:45926877-45926877 - HCT8 COSM2067924 c.2802G>A p.R934R Substitution - coding silent 12:45926899-45926899 - TCGA-BH-A18P-01 COSM431135 c.2243C>T p.S748F Substitution - Missense 12:45927458-45927458 - ATL001 COSM5704456 c.1406G>C p.R469T Substitution - Missense 12:45928295-45928295 - Pat_06_A COSM5018692 c.3840_3842delACC p.P1285delP Deletion - In frame 12:45924792-45924794 - TCGA-AM-5821-01 COSM147486 c.1035G>A p.G345G Substitution - coding silent 12:45928666-45928666 - CSCC-55-T COSM4481871 c.2552C>T p.P851L Substitution - Missense 12:45927149-45927149 - TCGA-AG-3878-01 COSM288355 c.4279A>G p.T1427A Substitution - Missense 12:45922161-45922161 - Pat_01_A COSM5018692 c.3840_3842delACC p.P1285delP Deletion - In frame 12:45924792-45924794 - Pat_74_A COSM5840998 c.3365C>T p.S1122F Substitution - Missense 12:45926336-45926336 - Pat_16_B COSM5018692 c.3840_3842delACC p.P1285delP Deletion - In frame 12:45924792-45924794 - RK006_C01 COSM1628618 c.3454A>G p.K1152E Substitution - Missense 12:45926247-45926247 - S02275 COSM5682752 c.3832C>A p.P1278T Substitution - Missense 12:45924802-45924802 - MO_1094 COSM5566164 c.2363G>A p.R788H Substitution - Missense 12:45927338-45927338 - TCGA-BP-4960-01 COSM1492859 c.1959G>C p.G653G Substitution - coding silent 12:45927742-45927742 - BCM683T COSM4951053 c.205C>G p.L69V Substitution - Missense 12:45961714-45961714 - C547 COSM4442359 c.3111A>T p.R1037S Substitution - Missense 12:45926590-45926590 - TCGA-B5-A11N-01 COSM939537 c.2356A>C p.K786Q Substitution - Missense 12:45927345-45927345 - TCGA-D1-A16X-01 COSM939542 c.1551A>C p.E517D Substitution - Missense 12:45928150-45928150 - HN_62237 COSM126123 c.3188T>C p.F1063S Substitution - Missense 12:45926513-45926513 - TCGA-BT-A20V-01 COSM415849 c.256C>G p.Q86E Substitution - Missense 12:45951691-45951691 - TCGA-BR-8591-01 COSM4042007 c.3031A>G p.N1011D Substitution - Missense 12:45926670-45926670 - WM3211 COSM3727188 c.4163A>C p.K1388T Substitution - Missense 12:45922545-45922545 - TCGA-BR-8487-01 COSM4042010 c.1515G>A p.L505L Substitution - coding silent 12:45928186-45928186 - TCGA-B5-A0JY-01 COSM939529 c.4197T>C p.D1399D Substitution - coding silent 12:45922511-45922511 - C086 COSM5538548 c.1418C>T p.S473L Substitution - Missense 12:45928283-45928283 - Pat_40_B COSM5018692 c.3840_3842delACC p.P1285delP Deletion - In frame 12:45924792-45924794 - PT36 COSM5916270 c.1447C>T p.P483S Substitution - Missense 12:45928254-45928254 - S02246 COSM5678819 c.2205A>G p.P735P Substitution - coding silent 12:45927496-45927496 - TCGA-FD-A3SS-01 COSM3792599 c.3395C>T p.S1132L Substitution - Missense 12:45926306-45926306 - TCGA-13-1498-01 COSM76592 c.1805C>G p.T602R Substitution - Missense 12:45927896-45927896 - D-05 COSM2067934 c.2362C>T p.R788C Substitution - Missense 12:45927339-45927339 - T1154 COSM4493250 c.411C>T p.I137I Substitution - coding silent 12:45945301-45945301 - Pat_01_B COSM5018692 c.3840_3842delACC p.P1285delP Deletion - In frame 12:45924792-45924794 - TCGA-EE-A3JD-06 COSM4397140 c.2508G>A p.K836K Substitution - coding silent 12:45927193-45927193 - TCGA-EE-A2MQ-06 COSM3460994 c.2258C>T p.S753F Substitution - Missense 12:45927443-45927443 - XHDG38 COSM4769852 c.3488C>G p.S1163* Substitution - Nonsense 12:45926213-45926213 - CHC361TA COSM3666574 c.2815_2849del35 p.S939fs*6 Deletion - Frameshift 12:45926852-45926886 - TCGA-EE-A2M5-06 COSM3460992 c.2572G>A p.E858K Substitution - Missense 12:45927129-45927129 - TCGA-CL-4957-01 COSM3416867 c.1249C>G p.P417A Substitution - Missense 12:45928452-45928452 - SH-0622 COSM5018692 c.3840_3842delACC p.P1285delP Deletion - In frame 12:45924792-45924794 - TCGA-BF-A1PX-01 COSM4905414 c.2721C>T p.S907S Substitution - coding silent 12:45926980-45926980 - 8034061 COSM3384362 c.4229G>T p.R1410L Substitution - Missense 12:45922479-45922479 - TCGA-BP-4976-01 COSM468377 c.3862C>A p.Q1288K Substitution - Missense 12:45924772-45924772 - TCGA-F4-6856-01 COSM1361721 c.1036T>A p.C346S Substitution - Missense 12:45928665-45928665 - TCGA-18-3407-01 COSM693892 c.1764C>A p.S588S Substitution - coding silent 12:45927937-45927937 - TCGA-19-2623-01 COSM3398730 c.1616C>G p.T539R Substitution - Missense 12:45928085-45928085 - LC_C21 COSM1188477 c.3627A>T p.Q1209H Substitution - Missense 12:45925007-45925007 - Pat_06_A COSM392821 c.2776_2777delGA p.E926fs*8 Deletion - Frameshift 12:45926924-45926925 - 8067232 COSM3772620 c.33G>A p.M11I Substitution - Missense 12:45964135-45964135 - EOPC-131_tumor_01 COSM5950481 c.3493C>T p.R1165* Substitution - Nonsense 12:45926208-45926208 - LUAD-S01315 COSM344159 c.2936G>T p.R979L Substitution - Missense 12:45926765-45926765 - TCGA-AA-A010-01 COSM285367 c.3079A>C p.K1027Q Substitution - Missense 12:45926622-45926622 - TCGA-AD-5900-01 COSM1361716 c.2594G>A p.R865Q Substitution - Missense 12:45927107-45927107 - TCGA-D9-A6EC-06 COSM4401297 c.4030A>C p.S1344R Substitution - Missense 12:45923031-45923031 - TCGA-EJ-5516-01 COSM1128590 c.844A>T p.T282S Substitution - Missense 12:45928857-45928857 - 8015097 COSM218405 c.3248delA p.Y1083fs*68 Deletion - Frameshift 12:45926453-45926453 - 537 COSM3723714 c.3479delA p.N1160fs*18 Deletion - Frameshift 12:45926222-45926222 - TCGA-BR-8680-01 COSM4042003 c.3192T>C p.G1064G Substitution - coding silent 12:45926509-45926509 - LUAD_E01319 COSM392821 c.2776_2777delGA p.E926fs*8 Deletion - Frameshift 12:45926924-45926925 - TCGA-AA-A00A-01 COSM273751 c.3002_3003insA p.N1001fs*2 Insertion - Frameshift 12:45926698-45926699 - BD124T COSM1361711 c.4102G>A p.A1368T Substitution - Missense 12:45922959-45922959 - CSCC-31-T COSM4547617 c.4270G>T p.V1424L Substitution - Missense 12:45922170-45922170 - HT29 COSM2067942 c.1731A>T p.S577S Substitution - coding silent 12:45927970-45927970 - BCM683T COSM4951053 c.205C>G p.L69V Substitution - Missense 12:45961714-45961714 - DLD1 COSM2067946 c.1660T>G p.L554V Substitution - Missense 12:45928041-45928041 - Gp2D COSM4627091 c.53A>G p.D18G Substitution - Missense 12:45964115-45964115 - T36 COSM4723807 c.3845delC p.P1282fs*29 Deletion - Frameshift 12:45924789-45924789 - TCGA-34-5236-01 COSM693896 c.3275A>G p.Q1092R Substitution - Missense 12:45926426-45926426 - TCGA-D1-A16X-01 COSM939535 c.2476G>T p.E826* Substitution - Nonsense 12:45927225-45927225 - TCGA-AM-5820-01 COSM3753231 c.2540G>A p.R847H Substitution - Missense 12:45927161-45927161 - 587342 COSM1225469 c.1826C>A p.P609H Substitution - Missense 12:45927875-45927875 - TCGA-A4-7286-01 COSM3986929 c.3274C>A p.Q1092K Substitution - Missense 12:45926427-45926427 - ESO-1096 COSM1265411 c.3509C>T p.S1170L Substitution - Missense 12:45926192-45926192 - TCGA-23-1026-01 COSM111537 c.2995_2999delGAAAA p.E999fs*2 Deletion - Frameshift 12:45926702-45926706 - TCGA-AZ-4315-01 COSM1361712 c.4072A>C p.S1358R Substitution - Missense 12:45922989-45922989 - T2269 COSM4723812 c.2148G>T p.M716I Substitution - Missense 12:45927553-45927553 - TCGA-D1-A16X-01 COSM939530 c.3152G>T p.R1051I Substitution - Missense 12:45926549-45926549 - GC8_T COSM147486 c.1035G>A p.G345G Substitution - coding silent 12:45928666-45928666 - TCGA-B0-4690-01 COSM3773641 c.905C>T p.S302F Substitution - Missense 12:45928796-45928796 - ESCC_64 COSM5633451 c.1816A>T p.I606L Substitution - Missense 12:45927885-45927885 - TCGA-GD-A3OS-01 COSM1299388 c.3630G>A p.P1210P Substitution - coding silent 12:45925004-45925004 - HCA7 COSM4612015 c.1804delA p.T602fs*5 Deletion - Frameshift 12:45927897-45927897 - TCGA-CK-5913-01 COSM1361722 c.810_811insT p.P271fs*56 Insertion - Frameshift 12:45931536-45931537 - TCGA-EE-A2GC-06 COSM3460993 c.2538C>T p.S846S Substitution - coding silent 12:45927163-45927163 - 8034061 COSM3384363 c.4105G>A p.D1369N Substitution - Missense 12:45922956-45922956 - H2122 COSM1197249 c.624A>T p.R208S Substitution - Missense 12:45934184-45934184 - LUAD-S01413 COSM347003 c.294T>G p.V98V Substitution - coding silent 12:45951653-45951653 - TCGA-BG-A0VW-01 COSM939543 c.1395T>C p.D465D Substitution - coding silent 12:45928306-45928306 - TCGA-B5-A11M-01 COSM939544 c.934C>T p.R312* Substitution - Nonsense 12:45928767-45928767 - T3658 COSM4723813 c.2009delA p.N670fs*4 Deletion - Frameshift 12:45927692-45927692 - 38 COSM5733689 c.3409G>A p.A1137T Substitution - Missense 12:45926292-45926292 - TCGA-CG-5723-01 COSM4042013 c.1177T>C p.S393P Substitution - Missense 12:45928524-45928524 - TCGA-EE-A3JD-06 COSM4394526 c.2506A>T p.K836* Substitution - Nonsense 12:45927195-45927195 - YULONE COSM5375181 c.4190A>T p.N1397I Substitution - Missense 12:45922518-45922518 - T578 COSM4723810 c.3157G>T p.E1053* Substitution - Nonsense 12:45926544-45926544 - ESCC-148T COSM3935952 c.3228C>A p.G1076G Substitution - coding silent 12:45926473-45926473 - CSCC-11-T COSM4570853 c.3336T>G p.S1112R Substitution - Missense 12:45926365-45926365 - BCM723T COSM4723813 c.2009delA p.N670fs*4 Deletion - Frameshift 12:45927692-45927692 - 104 COSM5012532 c.2609A>G p.D870G Substitution - Missense 12:45927092-45927092 - MOLT-4 COSM1684320 c.3828_3830delACC p.P1285delP Deletion - In frame 12:45924804-45924806 - TCGA-22-5489-01 COSM693895 c.3261T>C p.F1087F Substitution - coding silent 12:45926440-45926440 - TCGA-BR-6452-01 COSM4042005 c.3158A>G p.E1053G Substitution - Missense 12:45926543-45926543 - TCGA-AX-A0J0-01 COSM939530 c.3152G>T p.R1051I Substitution - Missense 12:45926549-45926549 - T3021 COSM4723807 c.3845delC p.P1282fs*29 Deletion - Frameshift 12:45924789-45924789 - ESCC_BICR_025T COSM5434379 c.3311C>T p.S1104L Substitution - Missense 12:45926390-45926390 - HCC30T COSM1606151 c.3517C>A p.Q1173K Substitution - Missense 12:45926184-45926184 - 6115234 COSM5556819 c.4173C>G p.I1391M Substitution - Missense 12:45922535-45922535 - TCGA-G2-A2EF-01 COSM1299389 c.383C>G p.S128C Substitution - Missense 12:45948452-45948452 - B86-Tumor COSM1746981 c.3013C>G p.L1005V Substitution - Missense 12:45926688-45926688 - RK006_C1 COSM1628618 c.3454A>G p.K1152E Substitution - Missense 12:45926247-45926247 - HCT15 COSM2067906 c.3967A>T p.T1323S Substitution - Missense 12:45923094-45923094 - TCGA-EB-A4IS-01 COSM3460989 c.3918T>C p.S1306S Substitution - coding silent 12:45923143-45923143 - PT46 COSM5929451 c.2702C>T p.S901F Substitution - Missense 12:45926999-45926999 - pfg121T COSM4754301 c.2066C>G p.T689S Substitution - Missense 12:45927635-45927635 - H650 COSM1194642 c.3329C>T p.S1110L Substitution - Missense 12:45926372-45926372 - HCT8 COSM2067946 c.1660T>G p.L554V Substitution - Missense 12:45928041-45928041 - TCGA-EW-A1IZ-01 COSM1476566 c.2967_2968insA p.E990fs*5 Insertion - Frameshift 12:45926733-45926734 - TCGA-BP-4976-01 COSM468378 c.3860A>G p.Q1287R Substitution - Missense 12:45924774-45924774 - TCGA-AA-A010-01 COSM285369 c.2656G>T p.E886* Substitution - Nonsense 12:45927045-45927045 - TCGA-CG-4306-01 COSM4042012 c.1390T>C p.Y464H Substitution - Missense 12:45928311-45928311 - V-PH-15T COSM4770387 c.2419A>G p.T807A Substitution - Missense 12:45927282-45927282 - TCGA-18-3416-01 COSM693892 c.1764C>A p.S588S Substitution - coding silent 12:45927937-45927937 - DU-145 COSM1676894 c.1031C>T p.S344F Substitution - Missense 12:45928670-45928670 - HCC2998 COSM1676895 c.638A>C p.E213A Substitution - Missense 12:45933227-45933227 - Au4 COSM5604781 c.3314G>A p.G1105E Substitution - Missense 12:45926387-45926387 - TCGA-AZ-4615-01 COSM4612015 c.1804delA p.T602fs*5 Deletion - Frameshift 12:45927897-45927897 - SWE-20 COSM1179053 c.3482A>G p.Y1161C Substitution - Missense 12:45926219-45926219 - TCGA-26-5134 COSM2157033 c.16G>A p.V6I Substitution - Missense 12:45964152-45964152 - Pat_41_B COSM5841001 c.2298G>T p.K766N Substitution - Missense 12:45927403-45927403 - HN_62996 COSM126124 c.2810C>G p.S937C Substitution - Missense 12:45926891-45926891 - TCGA-B5-A11E-01 COSM939539 c.2023A>G p.T675A Substitution - Missense 12:45927678-45927678 - TCGA-B1-5398-01 COSM3986928 c.3831A>T p.P1277P Substitution - coding silent 12:45924803-45924803 - CHC361TA COSM3666574 c.2815_2849del35 p.S939fs*6 Deletion - Frameshift 12:45926852-45926886 - 19 COSM5747388 c.1909C>T p.H637Y Substitution - Missense 12:45927792-45927792 - SA229 COSM212660 c.2591C>G p.S864C Substitution - Missense 12:45927110-45927110 - HCC2998 COSM1676892 c.2188G>T p.E730* Substitution - Nonsense 12:45927513-45927513 - Pat_70_A COSM5018692 c.3840_3842delACC p.P1285delP Deletion - In frame 12:45924792-45924794 - pfg212T COSM4747151 c.312delA p.K104fs*3 Deletion - Frameshift 12:45948523-45948523 - CSCC-44-T COSM4488294 c.3307C>T p.L1103F Substitution - Missense 12:45926394-45926394 - TCGA-A6-6653-01 COSM1361715 c.3002delA p.N1001fs*5 Deletion - Frameshift 12:45926699-45926699 - ICC009T COSM5823508 c.4268A>T p.E1423V Substitution - Missense 12:45922172-45922172 - PTC-7C COSM4147052 c.4083T>G p.S1361R Substitution - Missense 12:45922978-45922978 - TCGA-E9-A243-01 COSM1476567 c.2720C>T p.S907F Substitution - Missense 12:45926981-45926981 - TCGA-CJ-5684-01 COSM468380 c.2326A>G p.S776G Substitution - Missense 12:45927375-45927375 - TCGA-AX-A05Z-01 COSM939538 c.2276C>T p.S759F Substitution - Missense 12:45927425-45927425 - 587342 COSM1225470 c.282G>T p.L94F Substitution - Missense 12:45951665-45951665 - B86 COSM1746981 c.3013C>G p.L1005V Substitution - Missense 12:45926688-45926688 - TCGA-CG-5717-01 COSM4042009 c.1723G>C p.V575L Substitution - Missense 12:45927978-45927978 - TCGA-34-5231-01 COSM693891 c.1755A>G p.T585T Substitution - coding silent 12:45927946-45927946 - T3021 COSM939543 c.1395T>C p.D465D Substitution - coding silent 12:45928306-45928306 - P130 COSM1736901 c.4297G>A p.V1433I Substitution - Missense 12:45922143-45922143 - TCGA-D3-A5GO-06 COSM3460995 c.2153C>T p.P718L Substitution - Missense 12:45927548-45927548 - TCGA-UC-A7PF-01 COSM4830411 c.1328C>T p.S443F Substitution - Missense 12:45928373-45928373 - Gp2D COSM2067953 c.1196A>T p.K399I Substitution - Missense 12:45928505-45928505 - 259 COSM3732631 c.1114C>A p.P372T Substitution - Missense 12:45928587-45928587 - LUAD-B01811 COSM333882 c.1000C>T p.Q334* Substitution - Nonsense 12:45928701-45928701 - Pat_70_B COSM392821 c.2776_2777delGA p.E926fs*8 Deletion - Frameshift 12:45926924-45926925 - pfg081T COSM4754303 c.1559G>A p.G520D Substitution - Missense 12:45928142-45928142 - HX20T COSM3746299 c.3668A>C p.H1223P Substitution - Missense 12:45924966-45924966 - DLD1 COSM2067924 c.2802G>A p.R934R Substitution - coding silent 12:45926899-45926899 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.210351;Hs.210364;Hs.210367 12q12 603668

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.C124G c.370T>G 12 46342248 LUAD A C Nonsense p.Y1089* c.3267T>G 12 46320217 CM A G IntronicSNV . c.220-4365T>C 12 46349875 MM A G Missense p.F1063S c.3188T>C 12 46320296 HNSC A G Missense p.L1005P c.3014T>C 12 46320470 LUAD A G Missense p.V100A c.299T>C 12 46342319 CM A G Missense p.Y464H c.1390T>C 12 46322094 STAD A G Synonymous p.C59C c.177T>C 12 46355525 SCLC A G Synonymous p.D465D c.1395T>C 12 46322089 UCEC A G Synonymous p.F1087F c.3261T>C 12 46320223 LUSC A G Synonymous p.S144S c.432T>C 12 46339063 CM C A Missense p.G904V c.2711G>T 12 46320773 LUAD C A Missense p.W932L c.2795G>T 12 46320689 LUSC C A Nonsense p.E615* c.1843G>T 12 46321641 ESCA C G Missense p.E1130Q c.3388G>C 12 46320096 BLCA C G Missense p.E398Q c.1192G>C 12 46322292 HNSC C G Missense p.E732Q c.2194G>C 12 46321290 LUAD C T 5-UTRSNV . c.1-5G>A 12 46357955 CM C T Missense p.A362T c.1084G>A 12 46322400 BRCA C T Missense p.D1006N c.3016G>A 12 46320468 LUAD C T Missense p.E52K c.154G>A 12 46355548 RCCC C T Missense p.E690K c.2068G>A 12 46321416 COREAD C T Missense p.E858K c.2572G>A 12 46320912 CM C T Missense p.V6I c.16G>A 12 46357935 GBM C T SpliceAcceptorSNV . c.62-1G>A 12 46355641 LUAD C T Synonymous p.K836K c.2508G>A 12 46320976 CM C T Synonymous p.P1210P c.3630G>A 12 46318787 BLCA G A Missense p.P563L c.1688C>T 12 46321796 CM G A Missense p.R965W c.2893C>T 12 46320591 HNSC G A Missense p.S1170L c.3509C>T 12 46319975 ESCA G A Missense p.S302F c.905C>T 12 46322579 RCCC G A Missense p.S360F c.1079C>T 12 46322405 LUSC G A Missense p.S753F c.2258C>T 12 46321226 CM G A Missense p.S907F c.2720C>T 12 46320764 BRCA G A Nonsense p.Q1092* c.3274C>T 12 46320210 CM G A Nonsense p.Q1159* c.3475C>T 12 46320009 ESCA G A Nonsense p.R312* c.934C>T 12 46322550 UCEC G A Synonymous p.P1281P c.3843C>T 12 46318574 CM G A Synonymous p.S846S c.2538C>T 12 46320946 CM G A Synonymous p.S907S c.2721C>T 12 46320763 CM G C Missense p.Q86E c.256C>G 12 46345474 BLCA G C Missense p.S128C c.383C>G 12 46342235 BLCA G C Missense p.S344C c.1031C>G 12 46322453 ALL G C Missense p.S864C c.2591C>G 12 46320893 BRCA G C Missense p.S937C c.2810C>G 12 46320674 HNSC G C Missense p.T539R c.1616C>G 12 46321868 GBM G C Missense p.T602R c.1805C>G 12 46321679 OV GGT - InFrameDeletion p.P1285delP c.3840_3842delACC 12 46318575 CM G T Missense p.Q1288K c.3862C>A 12 46318555 RCCC G T Nonsense p.S1371* c.4112C>A 12 46316732 LUSC G T Synonymous p.S588S c.1764C>A 12 46321720 LUSC TAGA - IntronicDeletion . c.1-8820_1-8817delCTAT 12 46366768 CLL T A Missense p.I340L c.1018A>T 12 46322466 RCCC T A Missense p.Q101H c.303A>T 12 46342315 OV T A Missense p.Q1274L c.3821A>T 12 46318596 SCLC T A Missense p.T282S c.844A>T 12 46322640 PRAD T A Missense p.T304S c.910A>T 12 46322574 THCA T A Nonsense p.K836* c.2506A>T 12 46320978 CM TC - Frameshift p.E926Kfs*8 c.2776_2777delGA 12 46320707 GBM TC - Frameshift p.E926Kfs*8 c.2776_2777delGA 12 46320707 THCA T C Missense p.H545R c.1634A>G 12 46321850 RCCC T C Missense p.I1462M c.4386A>G 12 46315837 HNSC T C Missense p.I220V c.658A>G 12 46326990 HNSC T C Missense p.K1152E c.3454A>G 12 46320030 HC T C Missense p.M1212V c.3634A>G 12 46318783 COREAD T C Missense p.Q1092R c.3275A>G 12 46320209 LUSC T C Missense p.Q1287R c.3860A>G 12 46318557 RCCC T C Missense p.S1311G c.3931A>G 12 46316913 ESCA T C Missense p.T1427A c.4279A>G 12 46315944 COREAD T C Synonymous p.G163G c.489A>G 12 46328263 RCCC T C Synonymous p.K1388K c.4164A>G 12 46316327 HNSC T C Synonymous p.P978P c.2934A>G 12 46320550 LUSC T C Synonymous p.R946R c.2838A>G 12 46320646 NB T C Synonymous p.T539T c.1617A>G 12 46321867 HNSC T C Synonymous p.T585T c.1755A>G 12 46321729 LUSC - T Frameshift p.N1001Kfs*2 c.3002dupA 12 46320482 COREAD T - Frameshift p.Y1083Sfs*68 c.3248delA 12 46320236 PAAD T G Missense p.K135N c.405A>C 12 46339090 STAD TTTTC - Frameshift p.E999Kfs*2 c.2995_2999delGAAAA 12 46320485 OV