Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 14 20892410 20892410 single base substitution C G downstream_gene_variant BRCA-EU 14 20892500 20892500 single base substitution C G downstream_gene_variant BRCA-EU 14 20892505 20892505 single base substitution G A downstream_gene_variant BRCA-EU 14 20893361 20893361 single base substitution C A downstream_gene_variant BRCA-EU 14 20893584 20893584 single base substitution C G downstream_gene_variant BRCA-EU 14 20893849 20893849 single base substitution G C downstream_gene_variant BRCA-EU 14 20894398 20894398 single base substitution C T downstream_gene_variant BRCA-EU 14 20894611 20894611 single base substitution G A downstream_gene_variant BRCA-EU 14 20895787 20895787 single base substitution G A downstream_gene_variant BRCA-EU 14 20896005 20896005 single base substitution C G downstream_gene_variant BRCA-EU 14 20898787 20898787 single base substitution C G synonymous_variant L16L 48G>C BRCA-EU 14 20898817 20898817 single base substitution C T missense_variant M6I 18G>A BRCA-EU 14 20898873 20898873 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 14 20899793 20899793 single base substitution G T intron_variant BRCA-EU 14 20900294 20900294 single base substitution G C intron_variant BRCA-EU 14 20900371 20900371 single base substitution T C intron_variant BRCA-EU 14 20900534 20900534 single base substitution A T intron_variant BRCA-EU 14 20901534 20901534 single base substitution G T intron_variant BRCA-EU 14 20902252 20902252 single base substitution G C intron_variant BRCA-EU 14 20903219 20903219 single base substitution T A intron_variant BRCA-EU 14 20903601 20903601 single base substitution A G intron_variant BRCA-EU 14 20904005 20904005 single base substitution G A upstream_gene_variant BRCA-EU 14 20905310 20905310 single base substitution C G upstream_gene_variant BRCA-EU 14 20905461 20905461 single base substitution T C upstream_gene_variant BRCA-EU 14 20905487 20905487 single base substitution C G upstream_gene_variant BRCA-EU 14 20905903 20905903 single base substitution G T upstream_gene_variant BRCA-EU 14 20906167 20906167 single base substitution C T upstream_gene_variant BRCA-FR 14 20894398 20894398 single base substitution C T downstream_gene_variant BRCA-FR 14 20898787 20898787 single base substitution C G synonymous_variant L16L 48G>C BRCA-FR 14 20900294 20900294 single base substitution G C intron_variant BRCA-FR 14 20902065 20902065 single base substitution C T intron_variant BRCA-FR 14 20906167 20906167 single base substitution C T upstream_gene_variant BRCA-KR 14 20897956 20897956 single base substitution G C splice_region_variant BRCA-UK 14 20906769 20906769 single base substitution G A upstream_gene_variant BRCA-US 14 20898533 20898533 single base substitution T G missense_variant H101P 302A>C BTCA-JP 14 20897184 20897184 single base substitution G C missense_variant R476G 1426C>G BTCA-JP 14 20898266 20898266 single base substitution T A missense_variant H190L 569A>T BTCA-JP 14 20898417 20898417 single base substitution C T missense_variant A140T 418G>A BTCA-JP 14 20903609 20903609 single base substitution C T intron_variant CESC-US 14 20897148 20897148 single base substitution A C missense_variant C488G 1462T>G CESC-US 14 20897170 20897170 single base substitution G A synonymous_variant L480L 1440C>T CESC-US 14 20897328 20897328 single base substitution C T missense_variant E428K 1282G>A COAD-US 14 20897099 20897099 single base substitution C T missense_variant R504Q 1511G>A COAD-US 14 20897322 20897322 single base substitution C T missense_variant E430K 1288G>A COAD-US 14 20897339 20897339 single base substitution C T missense_variant G424D 1271G>A COAD-US 14 20897463 20897463 single base substitution A T missense_variant Y383N 1147T>A COAD-US 14 20897516 20897516 single base substitution G A missense_variant A365V 1094C>T COAD-US 14 20897676 20897676 single base substitution T C missense_variant E345G 1034A>G COAD-US 14 20898070 20898070 single base substitution G T synonymous_variant A255A 765C>A COAD-US 14 20898129 20898129 single base substitution G A missense_variant R236W 706C>T COCA-CN 14 20894658 20894658 single base substitution A G downstream_gene_variant COCA-CN 14 20897874 20897874 single base substitution C T intron_variant COCA-CN 14 20897880 20897880 single base substitution T C intron_variant COCA-CN 14 20898098 20898098 single base substitution C T missense_variant R246Q 737G>A COCA-CN 14 20898158 20898158 single base substitution C T missense_variant R226K 677G>A COCA-CN 14 20898671 20898671 single base substitution C T missense_variant S55N 164G>A ESAD-UK 14 20892837 20892837 single base substitution G T downstream_gene_variant ESAD-UK 14 20892898 20892898 single base substitution G A downstream_gene_variant ESAD-UK 14 20893307 20893307 single base substitution C T downstream_gene_variant ESAD-UK 14 20897179 20897179 single base substitution A G synonymous_variant T477T 1431T>C ESAD-UK 14 20898785 20898785 single base substitution C T missense_variant R17Q 50G>A ESCA-CN 14 20898590 20898590 single base substitution G A missense_variant A82V 245C>T ESCA-CN 14 20898615 20898615 single base substitution G A missense_variant R74C 220C>T ESCA-CN 14 20898665 20898665 single base substitution G A missense_variant S57F 170C>T LICA-CN 14 20897420 20897420 single base substitution G C missense_variant P397R 1190C>G LICA-FR 14 20898279 20898279 single base substitution G A missense_variant P186S 556C>T LICA-FR 14 20906899 20906899 single base substitution C T upstream_gene_variant LIHC-US 14 20897132 20897132 single base substitution C A missense_variant R493L 1478G>T LIHC-US 14 20897958 20897958 single base substitution G T missense_variant L293I 877C>A LIHC-US 14 20898166 20898166 single base substitution C T missense_variant M223I 669G>A LIHC-US 14 20898551 20898551 single base substitution C T missense_variant R95H 284G>A LINC-JP 14 20892309 20892309 single base substitution G A downstream_gene_variant LINC-JP 14 20898126 20898126 single base substitution C A missense_variant A237S 709G>T LIRI-JP 14 20892465 20892465 single base substitution T C downstream_gene_variant LIRI-JP 14 20892842 20892842 single base substitution A G downstream_gene_variant LIRI-JP 14 20893051 20893051 single base substitution C T downstream_gene_variant LIRI-JP 14 20893229 20893229 single base substitution C T downstream_gene_variant LIRI-JP 14 20893334 20893334 single base substitution A G downstream_gene_variant LIRI-JP 14 20893551 20893551 single base substitution C G downstream_gene_variant LIRI-JP 14 20893552 20893552 single base substitution C T downstream_gene_variant LIRI-JP 14 20893886 20893886 single base substitution G A downstream_gene_variant LIRI-JP 14 20894536 20894536 single base substitution C A downstream_gene_variant LIRI-JP 14 20894537 20894537 single base substitution C T downstream_gene_variant LIRI-JP 14 20894887 20894887 single base substitution C A downstream_gene_variant LIRI-JP 14 20896147 20896147 single base substitution G C downstream_gene_variant LIRI-JP 14 20896912 20896913 deletion of <=200bp AC - downstream_gene_variant LIRI-JP 14 20897907 20897907 single base substitution C T intron_variant LIRI-JP 14 20898225 20898225 single base substitution G A missense_variant R204W 610C>T LIRI-JP 14 20898664 20898664 deletion of <=200bp G - frameshift_variant S57 LIRI-JP 14 20899444 20899444 single base substitution C T intron_variant LIRI-JP 14 20900951 20900951 single base substitution C T intron_variant LIRI-JP 14 20902919 20902919 single base substitution C T intron_variant LIRI-JP 14 20906926 20906926 single base substitution C A upstream_gene_variant LIRI-JP 14 20907118 20907118 single base substitution T C upstream_gene_variant LIRI-JP 14 20908481 20908481 single base substitution G T upstream_gene_variant LUSC-KR 14 20892887 20892887 single base substitution C T downstream_gene_variant LUSC-KR 14 20893998 20893998 single base substitution C G downstream_gene_variant LUSC-KR 14 20895529 20895529 single base substitution T C downstream_gene_variant LUSC-KR 14 20896484 20896484 single base substitution C T downstream_gene_variant LUSC-KR 14 20896934 20896934 single base substitution A T downstream_gene_variant LUSC-KR 14 20900329 20900329 single base substitution A G intron_variant LUSC-KR 14 20903209 20903209 single base substitution C A intron_variant MALY-DE 14 20893326 20893326 single base substitution A G downstream_gene_variant MALY-DE 14 20899234 20899234 single base substitution G A intron_variant MALY-DE 14 20903265 20903265 single base substitution C T intron_variant MELA-AU 14 20892427 20892427 single base substitution C T downstream_gene_variant MELA-AU 14 20892885 20892885 single base substitution G A downstream_gene_variant MELA-AU 14 20892898 20892898 single base substitution G A downstream_gene_variant MELA-AU 14 20893047 20893047 single base substitution G A downstream_gene_variant MELA-AU 14 20893452 20893452 single base substitution G A downstream_gene_variant MELA-AU 14 20893756 20893756 single base substitution C T downstream_gene_variant MELA-AU 14 20894025 20894025 single base substitution A T downstream_gene_variant MELA-AU 14 20894184 20894184 single base substitution A G downstream_gene_variant MELA-AU 14 20894492 20894492 single base substitution C T downstream_gene_variant MELA-AU 14 20894581 20894581 single base substitution G A downstream_gene_variant MELA-AU 14 20894587 20894587 single base substitution G A downstream_gene_variant MELA-AU 14 20894855 20894855 single base substitution G C downstream_gene_variant MELA-AU 14 20896408 20896408 single base substitution A C downstream_gene_variant MELA-AU 14 20897225 20897225 single base substitution A C missense_variant V462G 1385T>G MELA-AU 14 20897535 20897575 deletion of <=200bp ATGGTGCTGGAAGTGCAGGTGCTGGCCTAAGGGAGAACAGG - frameshift_variant RPAPALPAPC350 MELA-AU 14 20897548 20897548 single base substitution T G synonymous_variant A354A 1062A>C MELA-AU 14 20897690 20897690 single base substitution C T synonymous_variant E340E 1020G>A MELA-AU 14 20898023 20898023 single base substitution C T missense_variant G271E 812G>A MELA-AU 14 20898049 20898049 single base substitution G A synonymous_variant F262F 786C>T MELA-AU 14 20898133 20898133 single base substitution C T stop_gained W234* 702G>A MELA-AU 14 20898303 20898303 single base substitution C T missense_variant A178T 532G>A MELA-AU 14 20898552 20898552 single base substitution G A missense_variant R95C 283C>T MELA-AU 14 20898553 20898553 single base substitution G A synonymous_variant A94A 282C>T MELA-AU 14 20898630 20898630 single base substitution C T missense_variant G69S 205G>A MELA-AU 14 20898734 20898734 single base substitution C T missense_variant G34E 101G>A MELA-AU 14 20898796 20898796 single base substitution C T synonymous_variant E13E 39G>A MELA-AU 14 20899104 20899104 single base substitution G A intron_variant MELA-AU 14 20899229 20899229 single base substitution T C intron_variant MELA-AU 14 20899606 20899606 single base substitution T C intron_variant MELA-AU 14 20899905 20899905 single base substitution A G intron_variant MELA-AU 14 20900187 20900187 single base substitution C T intron_variant MELA-AU 14 20900198 20900198 single base substitution G A intron_variant MELA-AU 14 20900270 20900270 single base substitution G A intron_variant MELA-AU 14 20900530 20900530 single base substitution C T intron_variant MELA-AU 14 20901307 20901307 single base substitution C T intron_variant MELA-AU 14 20901677 20901677 single base substitution C T intron_variant MELA-AU 14 20901963 20901963 single base substitution G A intron_variant MELA-AU 14 20902408 20902408 single base substitution C T intron_variant MELA-AU 14 20902453 20902453 single base substitution C T intron_variant MELA-AU 14 20902677 20902677 single base substitution G A intron_variant MELA-AU 14 20902990 20902990 single base substitution G A intron_variant MELA-AU 14 20903523 20903523 single base substitution G A intron_variant MELA-AU 14 20903525 20903525 single base substitution C T intron_variant MELA-AU 14 20903727 20903727 single base substitution C T 5_prime_UTR_variant MELA-AU 14 20903783 20903783 single base substitution C T 5_prime_UTR_variant MELA-AU 14 20903864 20903864 single base substitution G A upstream_gene_variant MELA-AU 14 20904552 20904552 single base substitution A T upstream_gene_variant MELA-AU 14 20904572 20904572 single base substitution G A upstream_gene_variant MELA-AU 14 20904740 20904740 single base substitution G A upstream_gene_variant MELA-AU 14 20904794 20904794 single base substitution C T upstream_gene_variant MELA-AU 14 20904977 20904977 single base substitution C T upstream_gene_variant MELA-AU 14 20905218 20905218 single base substitution G A upstream_gene_variant MELA-AU 14 20905683 20905683 single base substitution G A upstream_gene_variant MELA-AU 14 20905995 20905995 single base substitution G A upstream_gene_variant MELA-AU 14 20906143 20906143 single base substitution C G upstream_gene_variant MELA-AU 14 20906211 20906211 single base substitution C T upstream_gene_variant MELA-AU 14 20906360 20906360 single base substitution A G upstream_gene_variant MELA-AU 14 20906443 20906443 single base substitution G A upstream_gene_variant MELA-AU 14 20906643 20906643 single base substitution C T upstream_gene_variant MELA-AU 14 20906743 20906743 single base substitution G A upstream_gene_variant MELA-AU 14 20906872 20906872 single base substitution C T upstream_gene_variant MELA-AU 14 20906874 20906874 single base substitution C T upstream_gene_variant MELA-AU 14 20906945 20906945 single base substitution C T upstream_gene_variant MELA-AU 14 20907048 20907048 single base substitution C T upstream_gene_variant MELA-AU 14 20907169 20907169 single base substitution G A upstream_gene_variant MELA-AU 14 20907662 20907662 single base substitution G A upstream_gene_variant MELA-AU 14 20907724 20907724 single base substitution A G upstream_gene_variant MELA-AU 14 20908065 20908065 single base substitution G A upstream_gene_variant MELA-AU 14 20908085 20908085 single base substitution C T upstream_gene_variant MELA-AU 14 20908113 20908113 single base substitution G A upstream_gene_variant MELA-AU 14 20908261 20908261 single base substitution C T upstream_gene_variant MELA-AU 14 20908556 20908557 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 20908703 20908703 single base substitution G A upstream_gene_variant ORCA-IN 14 20897065 20897065 single base substitution G T synonymous_variant P515P 1545C>A ORCA-IN 14 20898392 20898392 single base substitution G A missense_variant P148L 443C>T ORCA-IN 14 20903688 20903688 single base substitution G T 5_prime_UTR_variant OV-AU 14 20897494 20897494 single base substitution G T stop_gained Y372* 1116C>A OV-AU 14 20900171 20900171 single base substitution T C intron_variant OV-AU 14 20902521 20902521 single base substitution C A intron_variant OV-AU 14 20904893 20904893 single base substitution G C upstream_gene_variant OV-AU 14 20904952 20904952 single base substitution G T upstream_gene_variant OV-AU 14 20906751 20906751 single base substitution A T upstream_gene_variant PACA-AU 14 20894928 20894928 single base substitution C A downstream_gene_variant PACA-AU 14 20896449 20896449 single base substitution G C downstream_gene_variant PACA-AU 14 20897062 20897062 single base substitution A T synonymous_variant A516A 1548T>A PACA-AU 14 20900390 20900390 single base substitution C T intron_variant PACA-AU 14 20902533 20902533 deletion of <=200bp A - intron_variant PACA-AU 14 20906844 20906844 single base substitution T C upstream_gene_variant PACA-CA 14 20897797 20897797 single base substitution T G missense_variant M305L 913A>C PACA-CA 14 20903651 20903651 single base substitution C T 5_prime_UTR_variant PACA-CA 14 20903851 20903851 single base substitution G A upstream_gene_variant PACA-CA 14 20905015 20905015 single base substitution G T upstream_gene_variant PACA-CA 14 20908071 20908071 single base substitution C T upstream_gene_variant PAEN-AU 14 20900761 20900761 single base substitution A C intron_variant PAEN-IT 14 20904170 20904170 single base substitution G A upstream_gene_variant PBCA-DE 14 20894121 20894121 single base substitution C T downstream_gene_variant PBCA-DE 14 20894279 20894279 single base substitution C A downstream_gene_variant PRAD-CA 14 20895111 20895111 single base substitution A G downstream_gene_variant PRAD-CA 14 20901085 20901085 single base substitution A G intron_variant PRAD-CA 14 20901147 20901147 single base substitution G A intron_variant PRAD-CA 14 20907419 20907419 single base substitution G T upstream_gene_variant PRAD-UK 14 20895277 20895277 single base substitution G T downstream_gene_variant PRAD-UK 14 20898966 20898966 single base substitution A C intron_variant PRAD-UK 14 20901789 20901789 single base substitution A T intron_variant RECA-EU 14 20904359 20904359 single base substitution C A upstream_gene_variant RECA-EU 14 20905104 20905104 single base substitution A C upstream_gene_variant RECA-EU 14 20906148 20906148 single base substitution A G upstream_gene_variant SKCA-BR 14 20892392 20892392 single base substitution T A downstream_gene_variant SKCA-BR 14 20894668 20894668 single base substitution A G downstream_gene_variant SKCA-BR 14 20894712 20894712 single base substitution G A downstream_gene_variant SKCA-BR 14 20894855 20894855 single base substitution G A downstream_gene_variant SKCA-BR 14 20897610 20897610 single base substitution C T intron_variant SKCA-BR 14 20897791 20897791 single base substitution G A missense_variant P307S 919C>T SKCA-BR 14 20898278 20898278 single base substitution G A missense_variant P186L 557C>T SKCA-BR 14 20899812 20899812 single base substitution G A intron_variant SKCA-BR 14 20900056 20900056 single base substitution G T intron_variant SKCA-BR 14 20901085 20901085 insertion of <=200bp - AAAAGAAAGAAAGAAAGAAAGAAAG intron_variant SKCA-BR 14 20901085 20901085 insertion of <=200bp - AAAAGAAAGAAAG intron_variant SKCA-BR 14 20902817 20902817 single base substitution C T intron_variant SKCA-BR 14 20903062 20903062 single base substitution C T intron_variant SKCA-BR 14 20903102 20903102 single base substitution G A intron_variant SKCA-BR 14 20904611 20904611 single base substitution A T upstream_gene_variant SKCA-BR 14 20905104 20905104 insertion of <=200bp - AAGCTGGGACCCAGGAGCGAAC upstream_gene_variant SKCA-BR 14 20906050 20906050 single base substitution C T upstream_gene_variant THCA-SA 14 20897755 20897755 deletion of <=200bp C - frameshift_variant A319 THCA-SA 14 20898280 20898280 single base substitution G A synonymous_variant T185T 555C>T THCA-SA 14 20898308 20898308 single base substitution C T missense_variant R176Q 527G>A UCEC-US 14 20897186 20897186 single base substitution T C missense_variant H475R 1424A>G UCEC-US 14 20897356 20897356 single base substitution C T synonymous_variant G418G 1254G>A UCEC-US 14 20897488 20897488 single base substitution G A synonymous_variant S374S 1122C>T UCEC-US 14 20897515 20897515 single base substitution C T synonymous_variant A365A 1095G>A UCEC-US 14 20897989 20897989 single base substitution G T missense_variant F282L 846C>A UCEC-US 14 20898098 20898098 single base substitution C T missense_variant R246Q 737G>A UCEC-US 14 20898744 20898744 single base substitution C T missense_variant A31T 91G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CHC892T COSM4796467 c.556C>T p.P186S Substitution - Missense 14:20430120-20430120 - 2492720 COSM5722163 c.487C>T p.R163C Substitution - Missense 14:20430189-20430189 - TCGA-CK-5913-01 COSM1368855 c.706C>T p.R236W Substitution - Missense 14:20429970-20429970 - YULAD COSM5382019 c.495C>T p.G165G Substitution - coding silent 14:20430181-20430181 - HCC99 COSM3706164 c.709G>T p.A237S Substitution - Missense 14:20429967-20429967 - 4T COSM3711471 c.1545C>A p.P515P Substitution - coding silent 14:20428906-20428906 - C086 COSM5533476 c.858C>T p.S286S Substitution - coding silent 14:20429818-20429818 - TCGA-MY-A5BD-01 COSM4855519 c.1282G>A p.E428K Substitution - Missense 14:20429169-20429169 - TCGA-B5-A0JY-01 COSM1587291 c.1122C>T p.S374S Substitution - coding silent 14:20429329-20429329 - TCGA-D1-A17Q-01 COSM1587289 c.1095G>A p.A365A Substitution - coding silent 14:20429356-20429356 - CSCC-27-T COSM4523024 c.1194G>A p.G398G Substitution - coding silent 14:20429257-20429257 - PTC_285 COSM5958948 c.955delG p.A319fs*55 Deletion - Frameshift 14:20429596-20429596 - S00841 COSM5661846 c.795G>T p.G265G Substitution - coding silent 14:20429881-20429881 - LUAD-S01356 COSM398006 c.772G>T p.A258S Substitution - Missense 14:20429904-20429904 - 587228 COSM1212647 c.787C>T p.R263W Substitution - Missense 14:20429889-20429889 - TCGA-AP-A0LM-01 COSM1587293 c.1254G>A p.G418G Substitution - coding silent 14:20429197-20429197 - TCGA-A2-A0T6-01 COSM3814427 c.302A>C p.H101P Substitution - Missense 14:20430374-20430374 - SNU-C2B COSM4615241 c.1363delC p.H455fs*58 Deletion - Frameshift 14:20429088-20429088 - 2492723 COSM5722163 c.487C>T p.R163C Substitution - Missense 14:20430189-20430189 - CSB14 COSM5027822 c.715C>T p.R239C Substitution - Missense 14:20429961-20429961 - pfg034T COSM4750951 c.1167C>G p.H389Q Substitution - Missense 14:20429284-20429284 - S01022 COSM5665711 c.1174C>A p.P392T Substitution - Missense 14:20429277-20429277 - OSCC-GB_00040111 COSM3711471 c.1545C>A p.P515P Substitution - coding silent 14:20428906-20428906 - S02273 COSM5681623 c.507C>A p.T169T Substitution - coding silent 14:20430169-20430169 - TCGA-JW-A5VK-01 COSM4855171 c.1440C>T p.L480L Substitution - coding silent 14:20429011-20429011 - AOCS-142-3-5 COSM3983149 c.1116C>A p.Y372* Substitution - Nonsense 14:20429335-20429335 - OSCC-GB_00410111 COSM3711473 c.443C>T p.P148L Substitution - Missense 14:20430233-20430233 - BD189T COSM5508409 c.1426C>G p.R476G Substitution - Missense 14:20429025-20429025 - LIM2551 COSM4643828 c.789G>A p.R263R Substitution - coding silent 14:20429887-20429887 - TCGA-AM-5820-01 COSM3753863 c.1034A>G p.E345G Substitution - Missense 14:20429517-20429517 - TCGA-AP-A059-01 COSM1587285 c.91G>A p.A31T Substitution - Missense 14:20430585-20430585 - 2492722 COSM5722163 c.487C>T p.R163C Substitution - Missense 14:20430189-20430189 - S00472 COSM5657708 c.1597G>T p.G533W Substitution - Missense 14:20428854-20428854 - YULOCUS COSM5382021 c.397G>A p.E133K Substitution - Missense 14:20430279-20430279 - Au3 COSM5601708 c.900G>A p.E300E Substitution - coding silent 14:20429651-20429651 - CSCC-16-T COSM4550836 c.510G>A p.R170R Substitution - coding silent 14:20430166-20430166 - S02242 COSM5677139 c.246G>T p.A82A Substitution - coding silent 14:20430430-20430430 - 2492721 COSM5722163 c.487C>T p.R163C Substitution - Missense 14:20430189-20430189 - TCGA-G4-6628-01 COSM1368851 c.1094C>T p.A365V Substitution - Missense 14:20429357-20429357 - TCGA-FV-A496-01 COSM4939185 c.284G>A p.R95H Substitution - Missense 14:20430392-20430392 - 19M COSM2029057 c.965G>A p.G322E Substitution - Missense 14:20429586-20429586 - TCGA-AD-6895-01 COSM3753861 c.1147T>A p.Y383N Substitution - Missense 14:20429304-20429304 - TCGA-DD-A73C-01 COSM4916706 c.669G>A p.M223I Substitution - Missense 14:20430007-20430007 - HCC99T COSM3706164 c.709G>T p.A237S Substitution - Missense 14:20429967-20429967 - CSCC-10-T COSM4571295 c.426T>C p.C142C Substitution - coding silent 14:20430250-20430250 - 41T COSM3711473 c.443C>T p.P148L Substitution - Missense 14:20430233-20430233 - PD13602a COSM5795604 c.48G>C p.L16L Substitution - coding silent 14:20430628-20430628 - 2492729 COSM5726099 c.1215G>A p.G405G Substitution - coding silent 14:20429236-20429236 - Z138 COSM1740136 c.97T>A p.S33T Substitution - Missense 14:20430579-20430579 - TCGA-G4-6309-01 COSM1368853 c.765C>A p.A255A Substitution - coding silent 14:20429911-20429911 - JVM-2 COSM1740984 c.1511delG p.A505fs*8 Deletion - Frameshift 14:20428940-20428940 - TCGA-AD-6895-01 COSM1368847 c.1288G>A p.E430K Substitution - Missense 14:20429163-20429163 - PT38 COSM5923082 c.770C>T p.P257L Substitution - Missense 14:20429906-20429906 - PTC-7C COSM4147963 c.393G>A p.Q131Q Substitution - coding silent 14:20430283-20430283 - RK210_C01 COSM3744259 c.610C>T p.R204W Substitution - Missense 14:20430066-20430066 - Patient_1 COSM5414098 c.480A>T p.R160R Substitution - coding silent 14:20430196-20430196 - 8058184 COSM3386451 c.1548T>A p.A516A Substitution - coding silent 14:20428903-20428903 - CSCC-56-T COSM4501698 c.595C>T p.P199S Substitution - Missense 14:20430081-20430081 - S01020 COSM5664914 c.1318C>A p.L440I Substitution - Missense 14:20429133-20429133 - TCGA-CM-5864-01 COSM1368845 c.1511G>A p.R504Q Substitution - Missense 14:20428940-20428940 - 587222 COSM1212649 c.737G>A p.R246Q Substitution - Missense 14:20429939-20429939 - CHC892T COSM4796467 c.556C>T p.P186S Substitution - Missense 14:20430120-20430120 - Gp5D COSM2029099 c.51G>T p.R17R Substitution - coding silent 14:20430625-20430625 - TCGA-DD-A4NJ-01 COSM4921045 c.1478G>T p.R493L Substitution - Missense 14:20428973-20428973 - Gp2D COSM2029099 c.51G>T p.R17R Substitution - coding silent 14:20430625-20430625 - CSCC-10-T COSM4561486 c.886G>C p.E296Q Substitution - Missense 14:20429665-20429665 - 308_T COSM3955873 c.1561G>C p.A521P Substitution - Missense 14:20428890-20428890 - HCC055T COSM5823979 c.1190C>G p.P397R Substitution - Missense 14:20429261-20429261 - 3844_T COSM3955875 c.982G>T p.G328C Substitution - Missense 14:20429569-20429569 - TCGA-CC-5263-01 COSM4919382 c.877C>A p.L293I Substitution - Missense 14:20429799-20429799 - CSCC-27-T COSM4539824 c.273G>A p.W91* Substitution - Nonsense 14:20430403-20430403 - ESCC-015T COSM3936454 c.220C>T p.R74C Substitution - Missense 14:20430456-20430456 - CSCC-20-T COSM4455562 c.819A>G p.E273E Substitution - coding silent 14:20429857-20429857 - NB1767 COSM5703131 c.881G>T p.R294M Substitution - Missense 14:20429795-20429795 - PT35 COSM5913581 c.811G>A p.G271R Substitution - Missense 14:20429865-20429865 - YUSIPU COSM5382025 c.239C>T p.P80L Substitution - Missense 14:20430437-20430437 - ESCC-148T COSM3936452 c.245C>T p.A82V Substitution - Missense 14:20430431-20430431 - TCGA-D1-A17Q-01 COSM1587287 c.846C>A p.F282L Substitution - Missense 14:20429830-20429830 - YUSMI COSM5382017 c.1359C>T p.S453S Substitution - coding silent 14:20429092-20429092 - KPOPBR-03-T COSM5965542 c.879C>G p.L293L Substitution - coding silent 14:20429797-20429797 - DN11120 COSM5795604 c.48G>C p.L16L Substitution - coding silent 14:20430628-20430628 - C99 COSM4620340 c.1205G>C p.S402T Substitution - Missense 14:20429246-20429246 - YULOCUS COSM5382023 c.396G>A p.E132E Substitution - coding silent 14:20430280-20430280 - Detroit_562 COSM4244251 c.313G>C p.V105L Substitution - Missense 14:20430363-20430363 - S02342 COSM5692524 c.1526C>A p.A509D Substitution - Missense 14:20428925-20428925 - TCGA-B5-A0JY-01 COSM1212649 c.737G>A p.R246Q Substitution - Missense 14:20429939-20429939 - Z138 COSM1740128 c.1487G>T p.C496F Substitution - Missense 14:20428964-20428964 - CSCC-31-T COSM4523393 c.1212G>A p.M404I Substitution - Missense 14:20429239-20429239 - 3N42-VS-3T42 COSM4981917 c.1161G>A p.L387L Substitution - coding silent 14:20429290-20429290 - TCGA-AP-A0LM-01 COSM1587289 c.1095G>A p.A365A Substitution - coding silent 14:20429356-20429356 - 35M COSM5581493 c.1413G>A p.G471G Substitution - coding silent 14:20429038-20429038 - SNUH_G76_S1 COSM4417006 c.1546G>A p.A516T Substitution - Missense 14:20428905-20428905 - pfg034T COSM4750949 c.1181T>G p.L394R Substitution - Missense 14:20429270-20429270 - TCGA-AP-A0LM-01 COSM1587295 c.1424A>G p.H475R Substitution - Missense 14:20429027-20429027 - BD93T COSM5514093 c.418G>A p.A140T Substitution - Missense 14:20430258-20430258 - ESCC-123T COSM3936456 c.170C>T p.S57F Substitution - Missense 14:20430506-20430506 - ASHPC_0010_Pa_P COSM4964704 c.913A>C p.M305L Substitution - Missense 14:20429638-20429638 - C089 COSM5543077 c.832G>T p.G278W Substitution - Missense 14:20429844-20429844 - TCGA-AZ-6601-01 COSM1368849 c.1271G>A p.G424D Substitution - Missense 14:20429180-20429180 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.556014 14q11.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AGCAAAAGAGACG - Frameshift p.V28Tfs*13 c.81_93delCGTCTCTTTTGCT 14 20898742 CLL G A Missense p.R239C c.715C>T 14 20898120 BRCA T A Missense p.H101L c.302A>T 14 20898533 BRCA