Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 45271192 45271192 single base substitution C T upstream_gene_variant BLCA-US 1 45269324 45269324 single base substitution C T upstream_gene_variant BLCA-US 1 45269884 45269884 single base substitution T G upstream_gene_variant BRCA-EU 1 45271068 45271068 single base substitution G C upstream_gene_variant BRCA-EU 1 45271848 45271848 single base substitution G A upstream_gene_variant BRCA-EU 1 45273174 45273174 single base substitution T G upstream_gene_variant BRCA-EU 1 45274022 45274022 single base substitution G A upstream_gene_variant BRCA-EU 1 45275878 45275878 single base substitution C A intron_variant BRCA-EU 1 45275878 45275878 single base substitution C A splice_region_variant BRCA-EU 1 45275878 45275878 single base substitution C A upstream_gene_variant BRCA-EU 1 45275967 45275967 single base substitution C T exon_variant BRCA-EU 1 45275967 45275967 single base substitution C T intron_variant BRCA-EU 1 45275967 45275967 single base substitution C T stop_gained Q57* 169C>T BRCA-EU 1 45275967 45275967 single base substitution C T upstream_gene_variant BRCA-EU 1 45276949 45276949 single base substitution G A intron_variant BRCA-EU 1 45276949 45276949 single base substitution G A upstream_gene_variant BRCA-EU 1 45278354 45278354 single base substitution G A intron_variant BRCA-EU 1 45278354 45278354 single base substitution G A upstream_gene_variant BRCA-EU 1 45279559 45279559 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 45279559 45279559 single base substitution G C downstream_gene_variant BRCA-EU 1 45279559 45279559 single base substitution G C exon_variant BRCA-EU 1 45280006 45280006 single base substitution C G downstream_gene_variant BRCA-EU 1 45280006 45280006 single base substitution C G exon_variant BRCA-EU 1 45280043 45280043 single base substitution C T downstream_gene_variant BRCA-EU 1 45280043 45280043 single base substitution C T exon_variant BRCA-EU 1 45281611 45281611 single base substitution C T downstream_gene_variant BRCA-EU 1 45283534 45283534 single base substitution G A downstream_gene_variant BRCA-EU 1 45283668 45283668 single base substitution G A downstream_gene_variant BRCA-EU 1 45283817 45283817 single base substitution G A downstream_gene_variant BRCA-EU 1 45284661 45284661 single base substitution A T downstream_gene_variant BRCA-EU 1 45284959 45284959 single base substitution C T downstream_gene_variant BRCA-EU 1 45285041 45285041 single base substitution A G downstream_gene_variant BRCA-EU 1 45285260 45285260 single base substitution C G downstream_gene_variant BRCA-EU 1 45285531 45285531 single base substitution C T downstream_gene_variant BRCA-EU 1 45285720 45285720 single base substitution C T downstream_gene_variant BRCA-FR 1 45281611 45281611 single base substitution C T downstream_gene_variant BRCA-FR 1 45283534 45283534 single base substitution G A downstream_gene_variant BRCA-FR 1 45283668 45283668 single base substitution G A downstream_gene_variant BRCA-FR 1 45285720 45285720 single base substitution C T downstream_gene_variant BRCA-US 1 45270401 45270401 single base substitution C A upstream_gene_variant BRCA-US 1 45271021 45271021 single base substitution C T upstream_gene_variant BRCA-US 1 45271308 45271308 single base substitution C G upstream_gene_variant BRCA-US 1 45275937 45275937 single base substitution T A exon_variant BRCA-US 1 45275937 45275937 single base substitution T A intron_variant BRCA-US 1 45275937 45275937 single base substitution T A missense_variant C47S 139T>A BRCA-US 1 45275937 45275937 single base substitution T A upstream_gene_variant BRCA-US 1 45275974 45275974 single base substitution T G exon_variant BRCA-US 1 45275974 45275974 single base substitution T G intron_variant BRCA-US 1 45275974 45275974 single base substitution T G missense_variant L59R 176T>G BRCA-US 1 45275974 45275974 single base substitution T G upstream_gene_variant BRCA-US 1 45277772 45277772 single base substitution T G intron_variant BRCA-US 1 45277772 45277772 single base substitution T G splice_donor_variant BRCA-US 1 45277772 45277772 single base substitution T G upstream_gene_variant BRCA-US 1 45279142 45279142 single base substitution G A 3_prime_UTR_variant BRCA-US 1 45279142 45279142 single base substitution G A downstream_gene_variant BRCA-US 1 45279142 45279142 single base substitution G A exon_variant BRCA-US 1 45279142 45279142 single base substitution G A missense_variant E200K 598G>A BRCA-US 1 45279142 45279142 single base substitution G A missense_variant E238K 712G>A BRCA-US 1 45279142 45279142 single base substitution G A upstream_gene_variant BTCA-JP 1 45271004 45271005 deletion of <=200bp AA - upstream_gene_variant BTCA-JP 1 45271097 45271097 single base substitution G A upstream_gene_variant BTCA-JP 1 45271270 45271270 single base substitution C T upstream_gene_variant BTCA-JP 1 45271624 45271624 deletion of <=200bp G - upstream_gene_variant BTCA-JP 1 45271858 45271858 single base substitution G A upstream_gene_variant BTCA-JP 1 45279072 45279072 single base substitution G C 3_prime_UTR_variant BTCA-JP 1 45279072 45279072 single base substitution G C downstream_gene_variant BTCA-JP 1 45279072 45279072 single base substitution G C exon_variant BTCA-JP 1 45279072 45279072 single base substitution G C missense_variant E176D 528G>C BTCA-JP 1 45279072 45279072 single base substitution G C missense_variant E214D 642G>C BTCA-JP 1 45279072 45279072 single base substitution G C upstream_gene_variant CESC-US 1 45270290 45270290 single base substitution G A upstream_gene_variant CESC-US 1 45270294 45270294 single base substitution C G upstream_gene_variant CESC-US 1 45270790 45270790 insertion of <=200bp - AAAG upstream_gene_variant CESC-US 1 45271718 45271718 single base substitution G A upstream_gene_variant CESC-US 1 45272313 45272313 single base substitution G T upstream_gene_variant COAD-US 1 45269333 45269333 single base substitution A G upstream_gene_variant COAD-US 1 45271009 45271009 single base substitution G A upstream_gene_variant COAD-US 1 45271698 45271698 single base substitution C T upstream_gene_variant COAD-US 1 45271762 45271762 single base substitution G A upstream_gene_variant COAD-US 1 45271828 45271828 single base substitution T C upstream_gene_variant COCA-CN 1 45269318 45269318 single base substitution C T upstream_gene_variant COCA-CN 1 45269669 45269669 single base substitution C A upstream_gene_variant COCA-CN 1 45269834 45269834 single base substitution G T upstream_gene_variant COCA-CN 1 45271791 45271791 single base substitution C T upstream_gene_variant COCA-CN 1 45274522 45274522 single base substitution G T exon_variant COCA-CN 1 45274522 45274522 single base substitution G T synonymous_variant G10G 30G>T COCA-CN 1 45274522 45274522 single base substitution G T upstream_gene_variant COCA-CN 1 45274680 45274680 single base substitution C T intron_variant COCA-CN 1 45274680 45274680 single base substitution C T upstream_gene_variant COCA-CN 1 45275845 45275845 single base substitution C T intron_variant COCA-CN 1 45275845 45275845 single base substitution C T upstream_gene_variant COCA-CN 1 45277744 45277744 single base substitution G T exon_variant COCA-CN 1 45277744 45277744 single base substitution G T intron_variant COCA-CN 1 45277744 45277744 single base substitution G T missense_variant V130L 388G>T COCA-CN 1 45277744 45277744 single base substitution G T upstream_gene_variant COCA-CN 1 45277745 45277745 single base substitution T G exon_variant COCA-CN 1 45277745 45277745 single base substitution T G intron_variant COCA-CN 1 45277745 45277745 single base substitution T G missense_variant V130G 389T>G COCA-CN 1 45277745 45277745 single base substitution T G upstream_gene_variant COCA-CN 1 45279249 45279249 single base substitution C A downstream_gene_variant COCA-CN 1 45279249 45279249 single base substitution C A intron_variant ESAD-UK 1 45271388 45271388 single base substitution G A upstream_gene_variant ESAD-UK 1 45273550 45273550 single base substitution C T upstream_gene_variant ESAD-UK 1 45274751 45274751 single base substitution G T intron_variant ESAD-UK 1 45274751 45274751 single base substitution G T upstream_gene_variant ESAD-UK 1 45276348 45276348 single base substitution C G exon_variant ESAD-UK 1 45276348 45276348 single base substitution C G intron_variant ESAD-UK 1 45276348 45276348 single base substitution C G upstream_gene_variant ESAD-UK 1 45277834 45277834 single base substitution C T intron_variant ESAD-UK 1 45277834 45277834 single base substitution C T upstream_gene_variant ESAD-UK 1 45277919 45277919 single base substitution A G intron_variant ESAD-UK 1 45277919 45277919 single base substitution A G upstream_gene_variant ESAD-UK 1 45278896 45278896 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 45278896 45278896 single base substitution G A exon_variant ESAD-UK 1 45278896 45278896 single base substitution G A synonymous_variant E152E 456G>A ESAD-UK 1 45278896 45278896 single base substitution G A synonymous_variant E190E 570G>A ESAD-UK 1 45278896 45278896 single base substitution G A upstream_gene_variant ESAD-UK 1 45282179 45282179 single base substitution A T downstream_gene_variant ESAD-UK 1 45283460 45283460 single base substitution C T downstream_gene_variant ESAD-UK 1 45283906 45283906 single base substitution C G downstream_gene_variant ESAD-UK 1 45284066 45284066 single base substitution A G downstream_gene_variant ESAD-UK 1 45285556 45285556 deletion of <=200bp G - downstream_gene_variant KIRC-US 1 45269620 45269620 deletion of <=200bp C - upstream_gene_variant LAML-KR 1 45279923 45279923 single base substitution C T downstream_gene_variant LAML-KR 1 45279923 45279923 single base substitution C T exon_variant LAML-KR 1 45284467 45284467 single base substitution C T downstream_gene_variant LICA-FR 1 45276893 45276893 insertion of <=200bp - A intron_variant LICA-FR 1 45276893 45276893 insertion of <=200bp - A upstream_gene_variant LICA-FR 1 45282014 45282014 single base substitution A G downstream_gene_variant LICA-FR 1 45285533 45285533 single base substitution A G downstream_gene_variant LIHC-US 1 45275896 45275896 single base substitution T C exon_variant LIHC-US 1 45275896 45275896 single base substitution T C intron_variant LIHC-US 1 45275896 45275896 single base substitution T C missense_variant F33S 98T>C LIHC-US 1 45275896 45275896 single base substitution T C upstream_gene_variant LIHC-US 1 45278683 45278683 single base substitution G A 3_prime_UTR_variant LIHC-US 1 45278683 45278683 single base substitution G A exon_variant LIHC-US 1 45278683 45278683 single base substitution G A missense_variant G106S 316G>A LIHC-US 1 45278683 45278683 single base substitution G A missense_variant G144S 430G>A LIHC-US 1 45278683 45278683 single base substitution G A upstream_gene_variant LINC-JP 1 45271040 45271040 single base substitution G A upstream_gene_variant LINC-JP 1 45271726 45271726 single base substitution G A upstream_gene_variant LINC-JP 1 45273751 45273751 single base substitution A G upstream_gene_variant LINC-JP 1 45285327 45285327 single base substitution C G downstream_gene_variant LINC-JP 1 45285605 45285605 single base substitution T C downstream_gene_variant LIRI-JP 1 45269278 45269278 single base substitution A G upstream_gene_variant LIRI-JP 1 45273204 45273204 single base substitution A C upstream_gene_variant LIRI-JP 1 45273877 45273877 single base substitution G C upstream_gene_variant LIRI-JP 1 45275501 45275501 single base substitution C A intron_variant LIRI-JP 1 45275501 45275501 single base substitution C A upstream_gene_variant LIRI-JP 1 45276506 45276506 single base substitution T G intron_variant LIRI-JP 1 45276506 45276506 single base substitution T G upstream_gene_variant LIRI-JP 1 45277334 45277334 single base substitution T C intron_variant LIRI-JP 1 45277334 45277334 single base substitution T C upstream_gene_variant LIRI-JP 1 45280752 45280752 single base substitution A G downstream_gene_variant LIRI-JP 1 45280752 45280752 single base substitution A G exon_variant LIRI-JP 1 45282636 45282636 single base substitution A G downstream_gene_variant LIRI-JP 1 45283703 45283703 single base substitution G A downstream_gene_variant LIRI-JP 1 45285179 45285179 single base substitution A T downstream_gene_variant LIRI-JP 1 45285649 45285649 single base substitution T G downstream_gene_variant LIRI-JP 1 45286225 45286225 single base substitution T C downstream_gene_variant LUSC-KR 1 45273877 45273877 single base substitution G A upstream_gene_variant LUSC-KR 1 45276427 45276427 single base substitution G A intron_variant LUSC-KR 1 45276427 45276427 single base substitution G A upstream_gene_variant LUSC-KR 1 45276892 45276892 single base substitution C A intron_variant LUSC-KR 1 45276892 45276892 single base substitution C A upstream_gene_variant LUSC-KR 1 45278611 45278611 single base substitution C G intron_variant LUSC-KR 1 45278611 45278611 single base substitution C G upstream_gene_variant LUSC-KR 1 45279836 45279836 single base substitution T G downstream_gene_variant LUSC-KR 1 45279836 45279836 single base substitution T G exon_variant LUSC-KR 1 45279884 45279884 single base substitution T C downstream_gene_variant LUSC-KR 1 45279884 45279884 single base substitution T C exon_variant LUSC-KR 1 45279896 45279896 single base substitution C T downstream_gene_variant LUSC-KR 1 45279896 45279896 single base substitution C T exon_variant LUSC-KR 1 45285101 45285101 single base substitution C G downstream_gene_variant LUSC-KR 1 45285523 45285523 single base substitution G A downstream_gene_variant LUSC-KR 1 45285638 45285638 single base substitution G A downstream_gene_variant LUSC-KR 1 45285648 45285648 single base substitution C T downstream_gene_variant LUSC-KR 1 45285721 45285721 single base substitution T G downstream_gene_variant LUSC-US 1 45271199 45271199 single base substitution G T upstream_gene_variant LUSC-US 1 45271337 45271337 single base substitution G A upstream_gene_variant MALY-DE 1 45278972 45278972 single base substitution G T downstream_gene_variant MALY-DE 1 45278972 45278972 single base substitution G T exon_variant MALY-DE 1 45278972 45278972 single base substitution G T intron_variant MALY-DE 1 45278972 45278972 single base substitution G T upstream_gene_variant MALY-DE 1 45279821 45279821 insertion of <=200bp - TT downstream_gene_variant MALY-DE 1 45279821 45279821 insertion of <=200bp - TT exon_variant MELA-AU 1 45269158 45269158 single base substitution C T upstream_gene_variant MELA-AU 1 45269268 45269268 single base substitution C T upstream_gene_variant MELA-AU 1 45269391 45269391 single base substitution C T upstream_gene_variant MELA-AU 1 45269667 45269667 single base substitution C T upstream_gene_variant MELA-AU 1 45269792 45269792 single base substitution C T upstream_gene_variant MELA-AU 1 45270365 45270365 single base substitution T A upstream_gene_variant MELA-AU 1 45270881 45270881 single base substitution A T upstream_gene_variant MELA-AU 1 45271294 45271294 single base substitution C T upstream_gene_variant MELA-AU 1 45272719 45272719 single base substitution G A upstream_gene_variant MELA-AU 1 45272768 45272768 single base substitution C T upstream_gene_variant MELA-AU 1 45272878 45272878 single base substitution G A upstream_gene_variant MELA-AU 1 45272941 45272941 single base substitution C T upstream_gene_variant MELA-AU 1 45273904 45273904 single base substitution G A upstream_gene_variant MELA-AU 1 45273912 45273912 single base substitution C T upstream_gene_variant MELA-AU 1 45274408 45274408 single base substitution C A 5_prime_UTR_variant MELA-AU 1 45274408 45274408 single base substitution C A exon_variant MELA-AU 1 45274408 45274408 single base substitution C A upstream_gene_variant MELA-AU 1 45274583 45274583 single base substitution G A intron_variant MELA-AU 1 45274583 45274583 single base substitution G A upstream_gene_variant MELA-AU 1 45275219 45275219 single base substitution A G intron_variant MELA-AU 1 45275219 45275219 single base substitution A G upstream_gene_variant MELA-AU 1 45275514 45275514 single base substitution C T intron_variant MELA-AU 1 45275514 45275514 single base substitution C T upstream_gene_variant MELA-AU 1 45276122 45276122 single base substitution G A intron_variant MELA-AU 1 45276122 45276122 single base substitution G A upstream_gene_variant MELA-AU 1 45276195 45276195 single base substitution C T intron_variant MELA-AU 1 45276195 45276195 single base substitution C T upstream_gene_variant MELA-AU 1 45276314 45276314 single base substitution C T intron_variant MELA-AU 1 45276314 45276314 single base substitution C T upstream_gene_variant MELA-AU 1 45276349 45276349 single base substitution A T exon_variant MELA-AU 1 45276349 45276349 single base substitution A T intron_variant MELA-AU 1 45276349 45276349 single base substitution A T upstream_gene_variant MELA-AU 1 45277202 45277202 single base substitution C T intron_variant MELA-AU 1 45277202 45277202 single base substitution C T upstream_gene_variant MELA-AU 1 45277484 45277484 single base substitution G A exon_variant MELA-AU 1 45277484 45277484 single base substitution G A intron_variant MELA-AU 1 45277484 45277484 single base substitution G A upstream_gene_variant MELA-AU 1 45278770 45278770 single base substitution C T exon_variant MELA-AU 1 45278770 45278770 single base substitution C T intron_variant MELA-AU 1 45278770 45278770 single base substitution C T upstream_gene_variant MELA-AU 1 45278862 45278862 single base substitution C T 3_prime_UTR_variant MELA-AU 1 45278862 45278862 single base substitution C T exon_variant MELA-AU 1 45278862 45278862 single base substitution C T missense_variant P141L 422C>T MELA-AU 1 45278862 45278862 single base substitution C T missense_variant P179L 536C>T MELA-AU 1 45278862 45278862 single base substitution C T upstream_gene_variant MELA-AU 1 45279261 45279261 single base substitution G A downstream_gene_variant MELA-AU 1 45279261 45279261 single base substitution G A intron_variant MELA-AU 1 45279882 45279882 single base substitution C T downstream_gene_variant MELA-AU 1 45279882 45279882 single base substitution C T exon_variant MELA-AU 1 45280073 45280073 single base substitution C T downstream_gene_variant MELA-AU 1 45280073 45280073 single base substitution C T exon_variant MELA-AU 1 45280481 45280481 single base substitution C T downstream_gene_variant MELA-AU 1 45280481 45280481 single base substitution C T exon_variant MELA-AU 1 45280533 45280533 single base substitution C T downstream_gene_variant MELA-AU 1 45280533 45280533 single base substitution C T exon_variant MELA-AU 1 45280545 45280545 single base substitution C T downstream_gene_variant MELA-AU 1 45280545 45280545 single base substitution C T exon_variant MELA-AU 1 45281127 45281127 single base substitution C T downstream_gene_variant MELA-AU 1 45281127 45281127 single base substitution C T exon_variant MELA-AU 1 45282031 45282031 single base substitution C T downstream_gene_variant MELA-AU 1 45282179 45282179 single base substitution A T downstream_gene_variant MELA-AU 1 45282207 45282207 single base substitution G A downstream_gene_variant MELA-AU 1 45283267 45283267 single base substitution C T downstream_gene_variant MELA-AU 1 45283342 45283342 single base substitution C T downstream_gene_variant MELA-AU 1 45283726 45283726 single base substitution C T downstream_gene_variant MELA-AU 1 45284156 45284177 deletion of <=200bp ACTTCTCACTGAGATATTATTT - downstream_gene_variant MELA-AU 1 45285224 45285224 single base substitution T A downstream_gene_variant MELA-AU 1 45285225 45285225 single base substitution G A downstream_gene_variant MELA-AU 1 45285420 45285420 single base substitution C A downstream_gene_variant MELA-AU 1 45285578 45285578 deletion of <=200bp A - downstream_gene_variant MELA-AU 1 45285633 45285633 single base substitution C T downstream_gene_variant MELA-AU 1 45286065 45286066 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant ORCA-IN 1 45270694 45270694 single base substitution C A upstream_gene_variant ORCA-IN 1 45270968 45270968 single base substitution G A upstream_gene_variant ORCA-IN 1 45276064 45276064 single base substitution T C exon_variant ORCA-IN 1 45276064 45276064 single base substitution T C intron_variant ORCA-IN 1 45276064 45276064 single base substitution T C missense_variant L89P 266T>C ORCA-IN 1 45276064 45276064 single base substitution T C upstream_gene_variant ORCA-IN 1 45279923 45279923 single base substitution C T downstream_gene_variant ORCA-IN 1 45279923 45279923 single base substitution C T exon_variant OV-AU 1 45269791 45269791 single base substitution C T upstream_gene_variant OV-AU 1 45270800 45270800 single base substitution A C upstream_gene_variant OV-AU 1 45275739 45275739 single base substitution G T intron_variant OV-AU 1 45275739 45275739 single base substitution G T upstream_gene_variant OV-AU 1 45275950 45275950 single base substitution G T exon_variant OV-AU 1 45275950 45275950 single base substitution G T intron_variant OV-AU 1 45275950 45275950 single base substitution G T missense_variant C51F 152G>T OV-AU 1 45275950 45275950 single base substitution G T upstream_gene_variant OV-AU 1 45279104 45279104 single base substitution T G 3_prime_UTR_variant OV-AU 1 45279104 45279104 single base substitution T G downstream_gene_variant OV-AU 1 45279104 45279104 single base substitution T G exon_variant OV-AU 1 45279104 45279104 single base substitution T G missense_variant L187R 560T>G OV-AU 1 45279104 45279104 single base substitution T G missense_variant L225R 674T>G OV-AU 1 45279104 45279104 single base substitution T G upstream_gene_variant OV-AU 1 45279812 45279812 single base substitution T C downstream_gene_variant OV-AU 1 45279812 45279812 single base substitution T C exon_variant OV-AU 1 45280724 45280724 single base substitution G C downstream_gene_variant OV-AU 1 45280724 45280724 single base substitution G C exon_variant PACA-AU 1 45269512 45269512 single base substitution T G upstream_gene_variant PACA-AU 1 45272079 45272079 single base substitution C A upstream_gene_variant PACA-AU 1 45282207 45282207 single base substitution G A downstream_gene_variant PACA-AU 1 45284228 45284228 single base substitution G A downstream_gene_variant PACA-CA 1 45272988 45272988 single base substitution C T upstream_gene_variant PACA-CA 1 45279217 45279219 deletion of <=200bp AGG - downstream_gene_variant PACA-CA 1 45279217 45279219 deletion of <=200bp AGG - intron_variant PBCA-DE 1 45280172 45280172 single base substitution G A downstream_gene_variant PBCA-DE 1 45280172 45280172 single base substitution G A exon_variant PBCA-DE 1 45282235 45282236 deletion of <=200bp TA - downstream_gene_variant PRAD-CA 1 45274531 45274531 single base substitution A G exon_variant PRAD-CA 1 45274531 45274531 single base substitution A G synonymous_variant E13E 39A>G PRAD-CA 1 45274531 45274531 single base substitution A G upstream_gene_variant PRAD-CA 1 45279882 45279882 single base substitution C T downstream_gene_variant PRAD-CA 1 45279882 45279882 single base substitution C T exon_variant PRAD-CA 1 45279884 45279884 single base substitution T C downstream_gene_variant PRAD-CA 1 45279884 45279884 single base substitution T C exon_variant PRAD-UK 1 45271364 45271364 single base substitution A T upstream_gene_variant PRAD-UK 1 45280478 45280478 single base substitution G T downstream_gene_variant PRAD-UK 1 45280478 45280478 single base substitution G T exon_variant PRAD-US 1 45269352 45269352 single base substitution G T upstream_gene_variant PRAD-US 1 45270100 45270100 single base substitution T C upstream_gene_variant PRAD-US 1 45270998 45270998 single base substitution T C upstream_gene_variant READ-US 1 45271912 45271912 single base substitution G A upstream_gene_variant SKCA-BR 1 45270790 45270790 insertion of <=200bp - TAAAG upstream_gene_variant SKCA-BR 1 45276506 45276506 single base substitution T G intron_variant SKCA-BR 1 45276506 45276506 single base substitution T G upstream_gene_variant SKCA-BR 1 45278164 45278164 single base substitution T G exon_variant SKCA-BR 1 45278164 45278164 single base substitution T G intron_variant SKCA-BR 1 45278164 45278164 single base substitution T G missense_variant V150G 449T>G SKCA-BR 1 45278164 45278164 single base substitution T G upstream_gene_variant SKCA-BR 1 45278398 45278398 single base substitution G A intron_variant SKCA-BR 1 45278398 45278398 single base substitution G A upstream_gene_variant SKCA-BR 1 45278458 45278474 deletion of <=200bp CGTGTGTGTGTGTGTGT - intron_variant SKCA-BR 1 45278458 45278474 deletion of <=200bp CGTGTGTGTGTGTGTGT - upstream_gene_variant SKCA-BR 1 45279832 45279832 insertion of <=200bp - TTCTG downstream_gene_variant SKCA-BR 1 45279832 45279832 insertion of <=200bp - TTCTG exon_variant SKCA-BR 1 45279862 45279862 insertion of <=200bp - CTT downstream_gene_variant SKCA-BR 1 45279862 45279862 insertion of <=200bp - CTT exon_variant SKCA-BR 1 45280225 45280225 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 1 45280225 45280225 insertion of <=200bp - CT exon_variant SKCA-BR 1 45282000 45282001 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 1 45282000 45282005 deletion of <=200bp ATATAT - downstream_gene_variant SKCA-BR 1 45282001 45282001 single base substitution T A downstream_gene_variant SKCA-BR 1 45282145 45282147 deletion of <=200bp ATG - downstream_gene_variant SKCA-BR 1 45282152 45282152 single base substitution T A downstream_gene_variant SKCA-BR 1 45282179 45282179 single base substitution A T downstream_gene_variant SKCA-BR 1 45282207 45282207 insertion of <=200bp - GTA downstream_gene_variant SKCA-BR 1 45284546 45284546 insertion of <=200bp - AC downstream_gene_variant SKCA-BR 1 45284794 45284794 single base substitution T G downstream_gene_variant SKCA-BR 1 45285768 45285768 single base substitution T C downstream_gene_variant SKCM-US 1 45270013 45270013 single base substitution G A upstream_gene_variant SKCM-US 1 45270368 45270368 single base substitution G A upstream_gene_variant SKCM-US 1 45271237 45271237 single base substitution C T upstream_gene_variant STAD-US 1 45270026 45270026 deletion of <=200bp C - upstream_gene_variant STAD-US 1 45270162 45270162 single base substitution G T upstream_gene_variant STAD-US 1 45271288 45271288 single base substitution C T upstream_gene_variant STAD-US 1 45271337 45271337 single base substitution G A upstream_gene_variant STAD-US 1 45271717 45271717 single base substitution C T upstream_gene_variant UCEC-US 1 45270018 45270018 single base substitution G T upstream_gene_variant UCEC-US 1 45270453 45270453 single base substitution T C upstream_gene_variant UCEC-US 1 45271170 45271170 single base substitution C T upstream_gene_variant UCEC-US 1 45271310 45271310 single base substitution G T upstream_gene_variant UCEC-US 1 45274551 45274551 single base substitution G A exon_variant UCEC-US 1 45274551 45274551 single base substitution G A missense_variant R20Q 59G>A UCEC-US 1 45274551 45274551 single base substitution G A upstream_gene_variant UCEC-US 1 45275994 45275994 single base substitution C A exon_variant UCEC-US 1 45275994 45275994 single base substitution C A intron_variant UCEC-US 1 45275994 45275994 single base substitution C A missense_variant P66T 196C>A UCEC-US 1 45275994 45275994 single base substitution C A upstream_gene_variant UCEC-US 1 45276069 45276069 single base substitution A G exon_variant UCEC-US 1 45276069 45276069 single base substitution A G intron_variant UCEC-US 1 45276069 45276069 single base substitution A G missense_variant T91A 271A>G UCEC-US 1 45276069 45276069 single base substitution A G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand UM-SCC-47 COSM4599940 c.26A>T p.H9L Substitution - Missense 1:44808846-44808846 + TCGA-C8-A26Y-01 COSM3805381 c.176T>G p.L59R Substitution - Missense 1:44810302-44810302 + CSCC-11-T COSM4477163 c.212C>T p.P71L Substitution - Missense 1:44810338-44810338 + CSCC-10-T COSM4482981 c.265C>T p.L89L Substitution - coding silent 1:44810391-44810391 + TCGA-A8-A06Q-01 COSM426348 c.712G>A p.E238K Substitution - Missense 1:44813470-44813470 + CSCC-27-T COSM4498677 c.525C>T p.A175A Substitution - coding silent 1:44813179-44813179 + SK00102_M COSM1600037 c.292C>G p.R98G Substitution - Missense 1:44810418-44810418 + AOCS-109-1-X COSM3944124 c.674T>G p.L225R Substitution - Missense 1:44813432-44813432 + HCT116 COSM2171927 c.796G>A p.A266T Substitution - Missense 1:44813692-44813692 + TCGA-AR-A24S-01 COSM1474033 c.139T>A p.C47S Substitution - Missense 1:44810265-44810265 + TCGA-D1-A0ZS-01 COSM1152106 c.196C>A p.P66T Substitution - Missense 1:44810322-44810322 + CSCC-37-T COSM4527947 c.14G>T p.G5V Substitution - Missense 1:44808834-44808834 + BD184T COSM5517563 c.642G>C p.E214D Substitution - Missense 1:44813400-44813400 + TCGA-AP-A0LM-01 COSM1584595 c.59G>A p.R20Q Substitution - Missense 1:44808879-44808879 + TCGA-BC-A10W-01 COSM4937198 c.98T>C p.F33S Substitution - Missense 1:44810224-44810224 + SC_9060 COSM5567766 c.701G>A p.S234N Substitution - Missense 1:44813459-44813459 + TCGA-AX-A0J0-01 COSM1584593 c.271A>G p.T91A Substitution - Missense 1:44810397-44810397 + Gp5D COSM4629114 c.698T>C p.L233P Substitution - Missense 1:44813456-44813456 + Sample_1 COSM5021277 c.442C>T p.L148L Substitution - coding silent 1:44813023-44813023 + TCGA-A2-A0T5-01 COSM3805383 c.414+2T>G p.? Unknown 1:44812100-44812100 + SW48 COSM2171907 c.419C>T p.A140V Substitution - Missense 1:44813000-44813000 + TCGA-DD-A4NI-01 COSM4926343 c.430G>A p.G144S Substitution - Missense 1:44813011-44813011 + sysucc-627T COSM5467991 c.389T>G p.V130G Substitution - Missense 1:44812073-44812073 + TCGA-D1-A103-01 COSM1584595 c.59G>A p.R20Q Substitution - Missense 1:44808879-44808879 + sysucc-627T COSM5467989 c.388G>T p.V130L Substitution - Missense 1:44812072-44812072 + OSCC-GB_01060111 COSM4882976 c.266T>C p.L89P Substitution - Missense 1:44810392-44810392 + LXFL529 COSM1197177 c.227C>G p.T76S Substitution - Missense 1:44810353-44810353 + PAPNNX COSM5004617 c.421G>A p.V141I Substitution - Missense 1:44813002-44813002 + AOCS-078-1-9 COSM3944122 c.152G>T p.C51F Substitution - Missense 1:44810278-44810278 + PD13627a COSM5776890 c.169C>T p.Q57* Substitution - Nonsense 1:44810295-44810295 + UM-SCC-11B COSM4598022 c.22G>A p.V8M Substitution - Missense 1:44808842-44808842 + SC_9109 COSM5004617 c.421G>A p.V141I Substitution - Missense 1:44813002-44813002 + 61 COSM5735446 c.38A>G p.E13G Substitution - Missense 1:44808858-44808858 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.743554;Hs.743555;Hs.743556;Hs.743557 1p34.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.P66T c.196C>A 1 45275994 UCEC G A Missense p.E238K c.712G>A 1 45279142 BRCA T A Missense p.C47S c.139T>A 1 45275937 BRCA