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 4 9337581 9337581 single base substitution G A upstream_gene_variant LAML-KR 4 9336458 9336458 single base substitution C A upstream_gene_variant LAML-KR 4 9336827 9336827 single base substitution A T upstream_gene_variant LAML-KR 4 9337673 9337673 single base substitution G C upstream_gene_variant LAML-KR 4 9338067 9338067 single base substitution C T upstream_gene_variant LAML-KR 4 9338339 9338339 single base substitution C A upstream_gene_variant LAML-KR 4 9338382 9338382 single base substitution C T upstream_gene_variant LAML-KR 4 9338414 9338414 single base substitution T A upstream_gene_variant LAML-KR 4 9338623 9338623 single base substitution T A upstream_gene_variant LAML-KR 4 9339241 9339241 single base substitution G T upstream_gene_variant LAML-KR 4 9339744 9339744 single base substitution G C upstream_gene_variant LAML-KR 4 9339921 9339921 single base substitution G A upstream_gene_variant LAML-KR 4 9339948 9339948 single base substitution T C upstream_gene_variant LAML-KR 4 9339952 9339952 single base substitution G C upstream_gene_variant LAML-KR 4 9340050 9340050 single base substitution C A upstream_gene_variant LAML-KR 4 9340225 9340225 single base substitution C A upstream_gene_variant LAML-KR 4 9340398 9340398 single base substitution A G upstream_gene_variant LAML-KR 4 9340469 9340469 single base substitution A T upstream_gene_variant LAML-KR 4 9340695 9340695 single base substitution C G upstream_gene_variant LAML-KR 4 9340739 9340739 single base substitution G A upstream_gene_variant LAML-KR 4 9340778 9340778 single base substitution C T upstream_gene_variant LAML-KR 4 9340798 9340798 single base substitution C T upstream_gene_variant LAML-KR 4 9340850 9340850 single base substitution C G upstream_gene_variant LAML-KR 4 9340877 9340877 single base substitution C A upstream_gene_variant LAML-KR 4 9341203 9341203 single base substitution C A synonymous_variant P25P 75C>A LAML-KR 4 9341572 9341572 single base substitution A T synonymous_variant A148A 444A>T LAML-KR 4 9342418 9342418 single base substitution G C missense_variant Q430H 1290G>C LAML-KR 4 9342812 9342812 single base substitution C T downstream_gene_variant LAML-KR 4 9343140 9343140 single base substitution T C downstream_gene_variant LAML-KR 4 9343212 9343212 single base substitution A G downstream_gene_variant LAML-KR 4 9343679 9343679 single base substitution T G downstream_gene_variant LAML-KR 4 9343808 9343808 single base substitution A G downstream_gene_variant LAML-KR 4 9344335 9344335 single base substitution A T downstream_gene_variant LAML-KR 4 9344651 9344651 single base substitution T G downstream_gene_variant LAML-KR 4 9344697 9344697 single base substitution G C downstream_gene_variant LAML-KR 4 9344822 9344822 single base substitution T C downstream_gene_variant LAML-KR 4 9345136 9345136 single base substitution T C downstream_gene_variant LAML-KR 4 9345143 9345143 single base substitution A G downstream_gene_variant LAML-KR 4 9345186 9345186 single base substitution G T downstream_gene_variant LAML-KR 4 9345214 9345214 single base substitution A T downstream_gene_variant LAML-KR 4 9345258 9345258 single base substitution C T downstream_gene_variant LAML-KR 4 9345484 9345484 single base substitution G A downstream_gene_variant LAML-KR 4 9345595 9345595 single base substitution C G downstream_gene_variant LAML-KR 4 9345948 9345948 single base substitution C A downstream_gene_variant LAML-KR 4 9346032 9346032 single base substitution T C downstream_gene_variant LAML-KR 4 9347352 9347352 single base substitution C A downstream_gene_variant LICA-FR 4 9341677 9341677 single base substitution A G synonymous_variant V183V 549A>G LUSC-KR 4 9336458 9336458 single base substitution C A upstream_gene_variant LUSC-KR 4 9336517 9336517 single base substitution G C upstream_gene_variant LUSC-KR 4 9336542 9336542 single base substitution T C upstream_gene_variant LUSC-KR 4 9337328 9337328 single base substitution C T upstream_gene_variant LUSC-KR 4 9338067 9338067 single base substitution C T upstream_gene_variant LUSC-KR 4 9338382 9338382 single base substitution C T upstream_gene_variant LUSC-KR 4 9340850 9340850 single base substitution C G upstream_gene_variant LUSC-KR 4 9341203 9341203 single base substitution C A synonymous_variant P25P 75C>A LUSC-KR 4 9341262 9341262 single base substitution G C missense_variant C45S 134G>C LUSC-KR 4 9342073 9342073 single base substitution C T synonymous_variant L315L 945C>T LUSC-KR 4 9342362 9342362 single base substitution C T missense_variant H412Y 1234C>T LUSC-KR 4 9342812 9342812 single base substitution C T downstream_gene_variant LUSC-KR 4 9343258 9343258 single base substitution C G downstream_gene_variant LUSC-KR 4 9345595 9345595 single base substitution C G downstream_gene_variant LUSC-KR 4 9345819 9345819 single base substitution T C downstream_gene_variant LUSC-KR 4 9345948 9345948 single base substitution C A downstream_gene_variant LUSC-KR 4 9346032 9346032 single base substitution T C downstream_gene_variant LUSC-KR 4 9347163 9347163 single base substitution G C downstream_gene_variant LUSC-KR 4 9347557 9347557 single base substitution C T downstream_gene_variant SKCA-BR 4 9338934 9338934 single base substitution T G upstream_gene_variant SKCA-BR 4 9344237 9344237 single base substitution T C downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SNUH_G37_S1 COSM3683453 c.626A>C p.H209P Substitution - Missense 4:9325790-9325790 + SNUH_G10_S1 COSM3683468 c.134G>C p.C45S Substitution - Missense 4:9330044-9330044 + SNUH_G26_S1 COSM3683576 c.403G>C p.A135P Substitution - Missense 4:9349295-9349295 + CN-AML-CR-5-Dx COSM5426693 c.1479C>A p.T493T Substitution - coding silent 4:9364607-9364607 + SNUH_G16_S1 COSM3683616 c.1391T>A p.L464H Substitution - Missense 4:9355028-9355028 + CN-AML-CR-1-Dx COSM4415308 c.75C>A p.P25P Substitution - coding silent 4:9334732-9334732 + SNUH_G10_S1 COSM3683523 c.494T>C p.L165P Substitution - Missense 4:9335151-9335151 + SNUH_G10_S1 COSM3683631 c.404C>T p.A135V Substitution - Missense 4:9363532-9363532 + CN-AML-CR-18-Dx COSM5428055 c.1443A>G p.E481E Substitution - coding silent 4:9350335-9350335 + SNUH_G10_S1 COSM3683562 c.134G>C p.C45S Substitution - Missense 4:9349026-9349026 + SNUH_G31_S1 COSM3683477 c.285G>A p.L95L Substitution - coding silent 4:9330195-9330195 + SNUH_G10_S1 COSM3683504 c.134G>C p.C45S Substitution - Missense 4:9334791-9334791 + SNUH_G10_S1 COSM3683541 c.134G>C p.C45S Substitution - Missense 4:9344281-9344281 + SNUH_G10_S1 COSM3683506 c.159T>C p.D53D Substitution - coding silent 4:9334816-9334816 + SNUH_G10_S1 COSM3683602 c.306G>A p.P102P Substitution - coding silent 4:9353943-9353943 + SK00102_P COSM1600121 c.85T>G p.F29V Substitution - Missense 4:9325249-9325249 + SNUH_G16_S1 COSM4003216 c.67T>C p.S23P Substitution - Missense 4:9334724-9334724 + SNUH_G50_S1 COSM3683463 c.1046T>G p.M349R Substitution - Missense 4:9326210-9326210 + SNUH_G21_S1 COSM3683600 c.262A>C p.T88P Substitution - Missense 4:9353899-9353899 + SNUH_G37_S1 COSM3683495 c.783G>C p.A261A Substitution - coding silent 4:9330693-9330693 + SNUH_G10_S1 COSM3683629 c.378T>G p.C126W Substitution - Missense 4:9363506-9363506 + SNUH_G16_S1 COSM4003230 c.67T>C p.S23P Substitution - Missense 4:9363195-9363195 + SNUH_G15_S1 COSM3683552 c.480T>A p.D160E Substitution - Missense 4:9344627-9344627 + SNUH_G10_S1 COSM3683432 c.192C>G p.P64P Substitution - coding silent 4:9325356-9325356 + SNUH_G15_S1 COSM3683471 c.202C>A p.L68I Substitution - Missense 4:9330112-9330112 + SNUH_G26_S1 COSM3683600 c.262A>C p.T88P Substitution - Missense 4:9353899-9353899 + SNUH_G10_S1 COSM3683440 c.356G>A p.R119H Substitution - Missense 4:9325520-9325520 + SNUH_G10_S1 COSM3683467 c.114T>C p.P38P Substitution - coding silent 4:9330024-9330024 + SNUH_G10_S1 COSM3683449 c.494T>C p.L165P Substitution - Missense 4:9325658-9325658 + SNUH_G15_S1 COSM3683548 c.397A>C p.T133P Substitution - Missense 4:9344544-9344544 + SNUH_G17_S1 COSM3683472 c.233T>G p.V78G Substitution - Missense 4:9330143-9330143 + SNUH_G10_S1 COSM3683587 c.929C>T p.P310L Substitution - Missense 4:9349821-9349821 + CN-AML-CR-27-Dx COSM3683542 c.159T>C p.D53D Substitution - coding silent 4:9344306-9344306 + SNUH_G26_S1 COSM3683641 c.811A>C p.T271P Substitution - Missense 4:9363939-9363939 + SNUH_G16_S1 COSM4003229 c.1290G>C p.Q430H Substitution - Missense 4:9354927-9354927 + SNUH_G15_S1 COSM3683646 c.1372A>C p.T458P Substitution - Missense 4:9364500-9364500 + SNUH_G15_S1 COSM3683569 c.263C>A p.T88N Substitution - Missense 4:9349155-9349155 + SNUH_G38_S1 COSM3683582 c.719T>G p.L240W Substitution - Missense 4:9349611-9349611 + SNUH_G10_S1 COSM3683561 c.114T>C p.P38P Substitution - coding silent 4:9349006-9349006 + SNUH_G10_S1 COSM3683542 c.159T>C p.D53D Substitution - coding silent 4:9344306-9344306 + SNUH_G38_S1 COSM3683494 c.753C>T p.A251A Substitution - coding silent 4:9330663-9330663 + SNUH_G14_S1 COSM3683589 c.982T>G p.W328G Substitution - Missense 4:9349874-9349874 + SNUH_G10_S1 COSM3683564 c.196G>T p.E66* Substitution - Nonsense 4:9349088-9349088 + SNUH_G16_S1 COSM4003215 c.1290G>C p.Q430H Substitution - Missense 4:9331200-9331200 + SNUH_G17_S1 COSM3683465 c.1372A>C p.T458P Substitution - Missense 4:9326536-9326536 + SNUH_G26_S1 COSM3683612 c.811A>C p.T271P Substitution - Missense 4:9354448-9354448 + SNUH_G15_S1 COSM3683450 c.522G>A p.K174K Substitution - coding silent 4:9325686-9325686 + SNUH_G16_S1 COSM4003227 c.67T>C p.S23P Substitution - Missense 4:9353704-9353704 + SNUH_G10_S1 COSM3683486 c.404C>T p.A135V Substitution - Missense 4:9330314-9330314 + SNUH_G16_S1 COSM4003225 c.1290G>C p.Q430H Substitution - Missense 4:9350182-9350182 + SNUH_G15_S1 COSM3683454 c.696T>G p.S232R Substitution - Missense 4:9325860-9325860 + SNUH_G26_S1 COSM3683478 c.303A>C p.T101T Substitution - coding silent 4:9330213-9330213 + SNUH_G15_S1 COSM3683644 c.1056C>G p.A352A Substitution - coding silent 4:9364184-9364184 + CN-AML-CR-65-Dx COSM5427230 c.444A>T p.A148A Substitution - coding silent 4:9349336-9349336 + SNUH_G40_S1 COSM3683435 c.248A>C p.Q83P Substitution - Missense 4:9325412-9325412 + SNUH_G15_S1 COSM3683435 c.248A>C p.Q83P Substitution - Missense 4:9325412-9325412 + SNUH_G50_S1 COSM3683492 c.615C>A p.I205I Substitution - coding silent 4:9330525-9330525 + SNUH_G26_S1 COSM3683574 c.392A>C p.H131P Substitution - Missense 4:9349284-9349284 + SNUH_G17_S1 COSM3683630 c.399A>C p.T133T Substitution - coding silent 4:9363527-9363527 + SNUH_G26_S1 COSM3683642 c.939A>C p.G313G Substitution - coding silent 4:9364067-9364067 + SNUH_G37_S1 COSM3683433 c.240T>G p.A80A Substitution - coding silent 4:9325404-9325404 + SNUH_G16_S1 COSM4003209 c.67T>C p.S23P Substitution - Missense 4:9325231-9325231 + SNUH_G16_S1 COSM4003228 c.1091G>A p.S364N Substitution - Missense 4:9354728-9354728 + SNUH_G37_S1 COSM3683451 c.568A>C p.T190P Substitution - Missense 4:9325732-9325732 + SNUH_G26_S1 COSM3683442 c.379A>C p.T127P Substitution - Missense 4:9325543-9325543 + SNUH_G17_S1 COSM3683466 c.1516G>C p.A506P Substitution - Missense 4:9326680-9326680 + SNUH_G21_S1 COSM3683446 c.397A>C p.T133P Substitution - Missense 4:9325561-9325561 + SNUH_G10_S1 COSM3683517 c.378T>G p.C126W Substitution - Missense 4:9335035-9335035 + CN-AML-CR-59-Dx COSM4908625 c.1234C>T p.H412Y Substitution - Missense 4:9331144-9331144 + SNUH_G17_S1 COSM3683457 c.771T>C p.C257C Substitution - coding silent 4:9325935-9325935 + SNUH_G39_S1 COSM3683645 c.1063A>C p.T355P Substitution - Missense 4:9364191-9364191 + SNUH_G17_S1 COSM3683585 c.773T>C p.L258P Substitution - Missense 4:9349665-9349665 + CN-AML-CR-58-Dx COSM4908569 c.75C>A p.P25P Substitution - coding silent 4:9344222-9344222 + SNUH_G17_S1 COSM3683584 c.771T>C p.C257C Substitution - coding silent 4:9349663-9349663 + SNUH_G31_S1 COSM3683613 c.828C>G p.L276L Substitution - coding silent 4:9354465-9354465 + SNUH_G17_S1 COSM3683559 c.1463A>C p.N488T Substitution - Missense 4:9345610-9345610 + SNUH_G10_S1 COSM3683604 c.378T>G p.C126W Substitution - Missense 4:9354015-9354015 + CN-AML-CR-50-Dx COSM4908569 c.75C>A p.P25P Substitution - coding silent 4:9344222-9344222 + CN-AML-CR-8-Dx COSM4003214 c.1091G>A p.S364N Substitution - Missense 4:9331001-9331001 + SNUH_G21_S1 COSM3683575 c.399A>C p.T133T Substitution - coding silent 4:9349291-9349291 + SNUH_G16_S1 COSM3683643 c.1016T>C p.V339A Substitution - Missense 4:9364144-9364144 + SNUH_G39_S1 COSM3683487 c.461A>C p.H154P Substitution - Missense 4:9330371-9330371 + SNUH_G16_S1 COSM4003212 c.67T>C p.S23P Substitution - Missense 4:9329977-9329977 + SNUH_G15_S1 COSM3683527 c.769T>G p.C257G Substitution - Missense 4:9335426-9335426 + SNUH_G37_S1 COSM3683511 c.301A>C p.T101P Substitution - Missense 4:9334958-9334958 + SNUH_G17_S1 COSM3683566 c.239C>G p.A80G Substitution - Missense 4:9349131-9349131 + CN-AML-CR-10-Dx COSM4908569 c.75C>A p.P25P Substitution - coding silent 4:9344222-9344222 + SNUH_G10_S1 COSM3683637 c.681C>T p.I227I Substitution - coding silent 4:9363809-9363809 + SNUH_G28_S1 COSM3683439 c.345A>C p.Q115H Substitution - Missense 4:9325509-9325509 + SNUH_G57_S1 COSM3683515 c.368G>T p.C123F Substitution - Missense 4:9335025-9335025 + SNUH_G10_S1 COSM3683443 c.391C>G p.H131D Substitution - Missense 4:9325555-9325555 + SNUH_G10_S1 COSM3683429 c.114T>C p.P38P Substitution - coding silent 4:9325278-9325278 + CN-AML-CR-34-Dx COSM5425096 c.1460T>A p.L487Q Substitution - Missense 4:9331370-9331370 + SNUH_G26_S1 COSM3683446 c.397A>C p.T133P Substitution - Missense 4:9325561-9325561 + SNUH_G15_S1 COSM3683524 c.514A>C p.M172L Substitution - Missense 4:9335171-9335171 + SNUH_G10_S1 COSM3683502 c.114T>C p.P38P Substitution - coding silent 4:9334771-9334771 + CN-AML-CR-44-Dx COSM4003230 c.67T>C p.S23P Substitution - Missense 4:9363195-9363195 + SNUH_G17_S1 COSM3683560 c.1477A>C p.T493P Substitution - Missense 4:9345624-9345624 + SNUH_G10_S1 COSM3683615 c.1103A>C p.Y368S Substitution - Missense 4:9354740-9354740 + SNUH_G10_S1 COSM3683619 c.134G>C p.C45S Substitution - Missense 4:9363262-9363262 + SNUH_G10_S1 COSM3683431 c.159T>C p.D53D Substitution - coding silent 4:9325323-9325323 + SNUH_G16_S1 COSM3683617 c.25A>G p.R9G Substitution - Missense 4:9363153-9363153 + SNUH_G15_S1 COSM3683472 c.233T>G p.V78G Substitution - Missense 4:9330143-9330143 + SNUH_G15_S1 COSM3683580 c.522G>A p.K174K Substitution - coding silent 4:9349414-9349414 + SNUH_G17_S1 COSM3683626 c.304C>A p.P102T Substitution - Missense 4:9363432-9363432 + CN-AML-CR-54-Dx COSM5427088 c.1234C>T p.H412Y Substitution - Missense 4:9364362-9364362 + SNUH_G15_S1 COSM3683462 c.1038G>T p.W346C Substitution - Missense 4:9326202-9326202 + SNUH_G10_S1 COSM3683540 c.114T>C p.P38P Substitution - coding silent 4:9344261-9344261 + CN-AML-CR-42-Dx COSM5428249 c.444A>T p.A148A Substitution - coding silent 4:9330354-9330354 + SNUH_G10_S1 COSM3683577 c.494T>C p.L165P Substitution - Missense 4:9349386-9349386 + SNUH_G26_S1 COSM3683521 c.403G>C p.A135P Substitution - Missense 4:9335060-9335060 + SNUH_G10_S1 COSM3683499 c.1034A>C p.Q345P Substitution - Missense 4:9330944-9330944 + SNUH_G10_S1 COSM3683596 c.134G>C p.C45S Substitution - Missense 4:9353771-9353771 + SNUH_G31_S1 COSM3683475 c.251A>T p.N84I Substitution - Missense 4:9330161-9330161 + SNUH_G21_S1 COSM3683608 c.397A>C p.T133P Substitution - Missense 4:9354034-9354034 + SNUH_G21_S1 COSM3683484 c.399A>C p.T133T Substitution - coding silent 4:9330309-9330309 + SNUH_G21_S1 COSM3683444 c.392A>C p.H131P Substitution - Missense 4:9325556-9325556 + SNUH_G18_S1 COSM3683634 c.467G>A p.G156D Substitution - Missense 4:9363595-9363595 + SNUH_G17_S1 COSM3683509 c.244C>G p.L82V Substitution - Missense 4:9334901-9334901 + SNUH_G26_S1 COSM3683447 c.399A>C p.T133T Substitution - coding silent 4:9325563-9325563 + SNUH_G15_S1 COSM3683590 c.1262A>G p.D421G Substitution - Missense 4:9350154-9350154 + SNUH_G10_S1 COSM3683497 c.866A>G p.N289S Substitution - Missense 4:9330776-9330776 + SNUH_G26_S1 COSM3683547 c.392A>C p.H131P Substitution - Missense 4:9344539-9344539 + SNUH_G10_S1 COSM3683430 c.134G>C p.C45S Substitution - Missense 4:9325298-9325298 + SNUH_G16_S1 COSM4003213 c.549A>G p.V183V Substitution - coding silent 4:9330459-9330459 + SNUH_G17_S1 COSM3683649 c.1471T>C p.S491P Substitution - Missense 4:9364599-9364599 + SNUH_G10_S1 COSM3683565 c.206C>T p.P69L Substitution - Missense 4:9349098-9349098 + SNUH_G15_S1 COSM3683483 c.370A>C p.M124L Substitution - Missense 4:9330280-9330280 + SNUH_G26_S1 COSM3683525 c.568A>C p.T190P Substitution - Missense 4:9335225-9335225 + SNUH_G10_S1 COSM3683469 c.159T>C p.D53D Substitution - coding silent 4:9330069-9330069 + SNUH_G17_S1 COSM3683581 c.568A>C p.T190P Substitution - Missense 4:9349460-9349460 + 1428_T COSM3946675 c.813C>T p.T271T Substitution - coding silent 4:9354450-9354450 + SNUH_G15_S1 COSM3683605 c.379A>C p.T127P Substitution - Missense 4:9354016-9354016 + SNUH_G17_S1 COSM3683601 c.303A>C p.T101T Substitution - coding silent 4:9353940-9353940 + SNUH_G26_S1 COSM3683518 c.379A>C p.T127P Substitution - Missense 4:9335036-9335036 + SNUH_G22_S1 COSM3683640 c.773T>C p.L258P Substitution - Missense 4:9363901-9363901 + SNUH_G16_S1 COSM3683498 c.991C>T p.H331Y Substitution - Missense 4:9330901-9330901 + SNUH_G16_S1 COSM4003217 c.1091G>A p.S364N Substitution - Missense 4:9335748-9335748 + SNUH_G10_S1 COSM3683557 c.1069T>G p.S357A Substitution - Missense 4:9345216-9345216 + SNUH_G21_S1 COSM3683607 c.392A>C p.H131P Substitution - Missense 4:9354029-9354029 + SNUH_G15_S1 COSM3683635 c.557A>T p.H186L Substitution - Missense 4:9363685-9363685 + SNUH_G10_S1 COSM3683544 c.196G>T p.E66* Substitution - Nonsense 4:9344343-9344343 + B24-Tumor COSM4005817 c.1198G>A p.D400N Substitution - Missense 4:9335855-9335855 + SNUH_G37_S1 COSM3683452 c.581A>C p.H194P Substitution - Missense 4:9325745-9325745 + CN-AML-CR-32-Dx COSM5426693 c.1479C>A p.T493T Substitution - coding silent 4:9364607-9364607 + SNUH_G26_S1 COSM3683583 c.722T>G p.V241G Substitution - Missense 4:9349614-9349614 + SNUH_G26_S1 COSM3683512 c.303A>C p.T101T Substitution - coding silent 4:9334960-9334960 + SNUH_G15_S1 COSM3683554 c.764G>T p.G255V Substitution - Missense 4:9344911-9344911 + SNUH_G26_S1 COSM3683487 c.461A>C p.H154P Substitution - Missense 4:9330371-9330371 + SNUH_G15_S1 COSM3683476 c.263C>A p.T88N Substitution - Missense 4:9330173-9330173 + SNUH_G17_S1 COSM3683539 c.1477A>C p.T493P Substitution - Missense 4:9336134-9336134 + SNUH_G26_S1 COSM3683623 c.262A>C p.T88P Substitution - Missense 4:9363390-9363390 + SNUH_G15_S1 COSM3683621 c.239C>G p.A80G Substitution - Missense 4:9363367-9363367 + SNUH_G21_S1 COSM3683445 c.395T>C p.I132T Substitution - Missense 4:9325559-9325559 + CN-AML-CR-43-Dx COSM5426771 c.444A>T p.A148A Substitution - coding silent 4:9335101-9335101 + SNUH_G15_S1 COSM3683578 c.496A>C p.M166L Substitution - Missense 4:9349388-9349388 + SNUH_G17_S1 COSM3683639 c.773T>A p.L258H Substitution - Missense 4:9363901-9363901 + SNUH_G26_S1 COSM3683479 c.338A>C p.H113P Substitution - Missense 4:9330248-9330248 + SNUH_G10_S1 COSM3683532 c.945C>T p.L315L Substitution - coding silent 4:9335602-9335602 + SNUH_G17_S1 COSM3683437 c.303A>C p.T101T Substitution - coding silent 4:9325467-9325467 + SNUH_G15_S1 COSM3683458 c.773T>C p.L258P Substitution - Missense 4:9325937-9325937 + SNUH_G10_S1 COSM3683627 c.356G>A p.R119H Substitution - Missense 4:9363484-9363484 + SNUH_G21_S1 COSM3683452 c.581A>C p.H194P Substitution - Missense 4:9325745-9325745 + SNUH_G10_S1 COSM3683481 c.356G>A p.R119H Substitution - Missense 4:9330266-9330266 + SNUH_G10_S1 COSM3683553 c.494T>C p.L165P Substitution - Missense 4:9344641-9344641 + SNUH_G16_S1 COSM4003222 c.67T>C p.S23P Substitution - Missense 4:9348959-9348959 + SNUH_G16_S1 COSM3683647 c.1443A>G p.E481E Substitution - coding silent 4:9364571-9364571 + SNUH_G10_S1 COSM3683493 c.705A>G p.Q235Q Substitution - coding silent 4:9330615-9330615 + SNUH_G82_S1 COSM3683491 c.581A>C p.H194P Substitution - Missense 4:9330491-9330491 + SNUH_G17_S1 COSM3683458 c.773T>C p.L258P Substitution - Missense 4:9325937-9325937 + SNUH_G10_S1 COSM3683595 c.114T>C p.P38P Substitution - coding silent 4:9353751-9353751 + SNUH_G10_S1 COSM3683488 c.483C>T p.A161A Substitution - coding silent 4:9330393-9330393 + SNUH_G16_S1 COSM4003214 c.1091G>A p.S364N Substitution - Missense 4:9331001-9331001 + SNUH_G11_S1 COSM3683622 c.246C>G p.L82L Substitution - coding silent 4:9363374-9363374 + SNUH_G15_S1 COSM3683555 c.769T>G p.C257G Substitution - Missense 4:9344916-9344916 + SNUH_G37_S1 COSM3683457 c.771T>C p.C257C Substitution - coding silent 4:9325935-9325935 + SNUH_G09_S1 COSM3683535 c.1197C>A p.T399T Substitution - coding silent 4:9335854-9335854 + SNUH_G15_S1 COSM3683568 c.258A>G p.G86G Substitution - coding silent 4:9349150-9349150 + SNUH_G16_S1 COSM3683592 c.1474T>G p.S492A Substitution - Missense 4:9350366-9350366 + SNUH_G26_S1 COSM3683522 c.461A>C p.H154P Substitution - Missense 4:9335118-9335118 + SNUH_G17_S1 COSM3683473 c.239C>G p.A80G Substitution - Missense 4:9330149-9330149 + SNUH_G26_S1 COSM3683549 c.399A>C p.T133T Substitution - coding silent 4:9344546-9344546 + SNUH_G11_S1 COSM3683456 c.764G>T p.G255V Substitution - Missense 4:9325928-9325928 + SNUH_G73_S1 COSM4415308 c.75C>A p.P25P Substitution - coding silent 4:9334732-9334732 + SNUH_G15_S1 COSM3683545 c.251A>T p.N84I Substitution - Missense 4:9344398-9344398 + CN-AML-CR-9-Dx COSM4003218 c.1290G>C p.Q430H Substitution - Missense 4:9335947-9335947 + SNUH_G15_S1 COSM3683550 c.459C>T p.F153F Substitution - coding silent 4:9344606-9344606 + CN-AML-CR-39-Dx COSM5426750 c.444A>T p.A148A Substitution - coding silent 4:9325608-9325608 + SNUH_G26_S1 COSM3683575 c.399A>C p.T133T Substitution - coding silent 4:9349291-9349291 + CN-AML-CR-44-Dx COSM4003211 c.1290G>C p.Q430H Substitution - Missense 4:9326454-9326454 + CN-AML-CR-44-Dx COSM3683597 c.159T>C p.D53D Substitution - coding silent 4:9353796-9353796 + SNUH_G15_S1 COSM3683465 c.1372A>C p.T458P Substitution - Missense 4:9326536-9326536 + SNUH_G14_S1 COSM3683567 c.244C>G p.L82V Substitution - Missense 4:9349136-9349136 + SNUH_G15_S1 COSM3683641 c.811A>C p.T271P Substitution - Missense 4:9363939-9363939 + SNUH_G16_S1 COSM4003211 c.1290G>C p.Q430H Substitution - Missense 4:9326454-9326454 + SNUH_G26_S1 COSM3683610 c.571A>C p.T191P Substitution - Missense 4:9354208-9354208 + SNUH_G10_S1 COSM3683620 c.159T>C p.D53D Substitution - coding silent 4:9363287-9363287 + SNUH_G26_S1 COSM3683464 c.1063A>C p.T355P Substitution - Missense 4:9326227-9326227 + CN-AML-CR-42-Dx COSM4908606 c.75C>A p.P25P Substitution - coding silent 4:9348967-9348967 + SNUH_G10_S1 COSM3683441 c.378T>G p.C126W Substitution - Missense 4:9325542-9325542 + SNUH_G10_S1 COSM3683534 c.1069T>G p.S357A Substitution - Missense 4:9335726-9335726 + SNUH_G16_S1 COSM3683536 c.1443A>G p.E481E Substitution - coding silent 4:9336100-9336100 + SNUH_G10_S1 COSM3683480 c.341C>G p.S114C Substitution - Missense 4:9330251-9330251 + SNUH_G10_S1 COSM3683543 c.192C>G p.P64P Substitution - coding silent 4:9344339-9344339 + SNUH_G16_S1 COSM3683500 c.1443A>G p.E481E Substitution - coding silent 4:9331353-9331353 + SNUH_G17_S1 COSM3683538 c.1466T>C p.L489P Substitution - Missense 4:9336123-9336123 + SNUH_G16_S1 COSM4003231 c.1091G>A p.S364N Substitution - Missense 4:9364219-9364219 + SNUH_G15_S1 COSM3683579 c.502A>C p.T168P Substitution - Missense 4:9349394-9349394 + SNUH_G57_S1 COSM3683510 c.299A>C p.Y100S Substitution - Missense 4:9334956-9334956 + SNUH_G26_S1 COSM3683520 c.397A>C p.T133P Substitution - Missense 4:9335054-9335054 + SNUH_G10_S1 COSM3683516 c.372G>T p.M124I Substitution - Missense 4:9335029-9335029 + SNUH_G10_S1 COSM3683436 c.298T>C p.Y100H Substitution - Missense 4:9325462-9325462 + SNUH_G10_S1 COSM3683571 c.306G>A p.P102P Substitution - coding silent 4:9349198-9349198 + SNUH_G10_S1 COSM3683470 c.173T>C p.V58A Substitution - Missense 4:9330083-9330083 + CN-AML-CR-14-Dx COSM4415308 c.75C>A p.P25P Substitution - coding silent 4:9334732-9334732 + CN-AML-CR-30-Dx COSM4908625 c.1234C>T p.H412Y Substitution - Missense 4:9331144-9331144 + SNUH_G29_S1 COSM3683606 c.380C>G p.T127S Substitution - Missense 4:9354017-9354017 + SNUH_G15_S1 COSM3683489 c.485A>C p.H162P Substitution - Missense 4:9330395-9330395 + CN-AML-CR-48-Dx COSM5426815 c.75C>A p.P25P Substitution - coding silent 4:9353712-9353712 + SNUH_G16_S1 COSM4003221 c.1290G>C p.Q430H Substitution - Missense 4:9345437-9345437 + SNUH_G10_S1 COSM3683531 c.825C>T p.V275V Substitution - coding silent 4:9335482-9335482 + SNUH_G17_S1 COSM3683501 c.1453T>C p.S485P Substitution - Missense 4:9331363-9331363 + SNUH_G26_S1 COSM3683485 c.403G>C p.A135P Substitution - Missense 4:9330313-9330313 + SNUH_G10_S1 COSM3683573 c.357T>C p.R119R Substitution - coding silent 4:9349249-9349249 + SNUH_G26_S1 COSM3683513 c.338A>C p.H113P Substitution - Missense 4:9334995-9334995 + SNUH_G17_S1 COSM3683556 c.811A>C p.T271P Substitution - Missense 4:9344958-9344958 + SNUH_G40_S1 COSM3683434 c.244C>G p.L82V Substitution - Missense 4:9325408-9325408 + SNUH_G10_S1 COSM3683482 c.357T>C p.R119R Substitution - coding silent 4:9330267-9330267 + SNUH_G10_S1 COSM3683588 c.945C>T p.L315L Substitution - coding silent 4:9349837-9349837 + SNUH_G16_S1 COSM3683533 c.991C>T p.H331Y Substitution - Missense 4:9335648-9335648 + CN-AML-CR-58-Dx COSM4908606 c.75C>A p.P25P Substitution - coding silent 4:9348967-9348967 + SNUH_G26_S1 COSM3683526 c.766G>T p.V256F Substitution - Missense 4:9335423-9335423 + SNUH_G17_S1 COSM3683648 c.1453T>C p.S485P Substitution - Missense 4:9364581-9364581 + SNUH_G10_S1 COSM3683461 c.1034A>C p.Q345P Substitution - Missense 4:9326198-9326198 + SNUH_G37_S1 COSM3683528 c.771T>C p.C257C Substitution - coding silent 4:9335428-9335428 + SNUH_G16_S1 COSM3683558 c.1443A>G p.E481E Substitution - coding silent 4:9345590-9345590 + SNUH_G22_S1 COSM3683514 c.346A>C p.T116P Substitution - Missense 4:9335003-9335003 + SNUH_G37_S1 COSM3683508 c.197A>G p.E66G Substitution - Missense 4:9334854-9334854 + SNUH_G17_S1 COSM3683551 c.461A>C p.H154P Substitution - Missense 4:9344608-9344608 + CN-AML-CR-16-Dx COSM5427998 c.1479C>A p.T493T Substitution - coding silent 4:9345626-9345626 + SNUH_G16_S1 COSM4003220 c.1091G>A p.S364N Substitution - Missense 4:9345238-9345238 + SNUH_G15_S1 COSM3683614 c.1046T>G p.M349R Substitution - Missense 4:9354683-9354683 + SNUH_G16_S1 COSM4003210 c.1091G>A p.S364N Substitution - Missense 4:9326255-9326255 + CN-AML-CR-66-Dx COSM5426868 c.618G>C p.K206N Substitution - Missense 4:9325782-9325782 + SNUH_G17_S1 COSM3683537 c.1453T>C p.S485P Substitution - Missense 4:9336110-9336110 + SNUH_G10_S1 COSM3683546 c.378T>G p.C126W Substitution - Missense 4:9344525-9344525 + SNUH_G37_S1 COSM3683570 c.301A>C p.T101P Substitution - Missense 4:9349193-9349193 + SNUH_G21_S1 COSM3683448 c.461A>C p.H154P Substitution - Missense 4:9325625-9325625 + SNUH_G10_S1 COSM3683460 c.945C>T p.L315L Substitution - coding silent 4:9326109-9326109 + SNUH_G10_S1 COSM3683529 c.790T>A p.S264T Substitution - Missense 4:9335447-9335447 + SNUH_G21_S1 COSM3683512 c.303A>C p.T101T Substitution - coding silent 4:9334960-9334960 + SNUH_G26_S1 COSM3683530 c.811A>C p.T271P Substitution - Missense 4:9335468-9335468 + SNUH_G10_S1 COSM3683603 c.356G>A p.R119H Substitution - Missense 4:9353993-9353993 + SNUH_G21_S1 COSM3683459 c.813C>T p.T271T Substitution - coding silent 4:9325977-9325977 + SNUH_G10_S1 COSM3683505 c.139A>G p.T47A Substitution - Missense 4:9334796-9334796 + CN-AML-CR-31-Dx COSM5427476 c.1479C>A p.T493T Substitution - coding silent 4:9326643-9326643 + SNUH_G10_S1 COSM3683490 c.494T>C p.L165P Substitution - Missense 4:9330404-9330404 + SNUH_G10_S1 COSM3683618 c.114T>C p.P38P Substitution - coding silent 4:9363242-9363242 + SNUH_G26_S1 COSM3683625 c.303A>C p.T101T Substitution - coding silent 4:9363431-9363431 + SNUH_G15_S1 COSM3683624 c.263C>A p.T88N Substitution - Missense 4:9363391-9363391 + SNUH_G15_S1 COSM3683610 c.571A>C p.T191P Substitution - Missense 4:9354208-9354208 + SNUH_G10_S1 COSM3683586 c.866A>G p.N289S Substitution - Missense 4:9349758-9349758 + SNUH_G38_S1 COSM3683455 c.760T>G p.C254G Substitution - Missense 4:9325924-9325924 + SNUH_G17_S1 COSM3683611 c.771T>C p.C257C Substitution - coding silent 4:9354408-9354408 + CN-AML-CR-37-Dx COSM4908569 c.75C>A p.P25P Substitution - coding silent 4:9344222-9344222 + SNUH_G26_S1 COSM3683507 c.193A>C p.R65R Substitution - coding silent 4:9334850-9334850 + CN-AML-CR-60-Dx COSM3683563 c.159T>C p.D53D Substitution - coding silent 4:9349051-9349051 + SNUH_G21_S1 COSM3683585 c.773T>C p.L258P Substitution - Missense 4:9349665-9349665 + SNUH_G10_S1 COSM3683633 c.463A>G p.R155G Substitution - Missense 4:9363591-9363591 + SNUH_G26_S1 COSM3683636 c.568A>C p.T190P Substitution - Missense 4:9363696-9363696 + CN-AML-CR-31-Dx COSM4908569 c.75C>A p.P25P Substitution - coding silent 4:9344222-9344222 + SNUH_G16_S1 COSM4003226 c.1443A>C p.E481D Substitution - Missense 4:9350335-9350335 + SNUH_G15_S1 COSM3683474 c.249G>C p.Q83H Substitution - Missense 4:9330159-9330159 + SNUH_G16_S1 COSM3683503 c.119A>T p.K40M Substitution - Missense 4:9334776-9334776 + SNUH_G10_S1 COSM4003223 c.159T>A p.D53E Substitution - Missense 4:9349051-9349051 + SNUH_G39_S1 COSM3683632 c.461A>C p.H154P Substitution - Missense 4:9363589-9363589 + SNUH_G16_S1 COSM4003219 c.67T>C p.S23P Substitution - Missense 4:9344214-9344214 + SNUH_G10_S1 COSM3683438 c.341C>G p.S114C Substitution - Missense 4:9325505-9325505 + SNUH_G17_S1 COSM3683594 c.1477A>C p.T493P Substitution - Missense 4:9350369-9350369 + SNUH_G37_S1 COSM3683574 c.392A>C p.H131P Substitution - Missense 4:9349284-9349284 + SNUH_G57_S1 COSM3683638 c.766G>T p.V256F Substitution - Missense 4:9363894-9363894 + SNUH_G10_S1 COSM3683609 c.494T>C p.L165P Substitution - Missense 4:9354131-9354131 + CN-AML-CR-60-Dx COSM5424351 c.75C>A p.P25P Substitution - coding silent 4:9325239-9325239 + SNUH_G10_S1 COSM3683563 c.159T>C p.D53D Substitution - coding silent 4:9349051-9349051 + SNUH_G21_S1 COSM3683447 c.399A>C p.T133T Substitution - coding silent 4:9325563-9325563 + SNUH_G16_S1 COSM4003224 c.1091G>A p.S364N Substitution - Missense 4:9349983-9349983 + SNUH_G15_S1 COSM3683599 c.244C>G p.L82V Substitution - Missense 4:9353881-9353881 + SNUH_G16_S1 COSM4003232 c.1290G>C p.Q430H Substitution - Missense 4:9364418-9364418 + SNUH_G10_S1 COSM3683598 c.192C>G p.P64P Substitution - coding silent 4:9353829-9353829 + SNUH_G16_S1 COSM4003218 c.1290G>C p.Q430H Substitution - Missense 4:9335947-9335947 + CN-AML-CR-18-Dx COSM5428045 c.1460T>A p.L487Q Substitution - Missense 4:9350352-9350352 + SNUH_G10_S1 COSM3683572 c.341C>G p.S114C Substitution - Missense 4:9349233-9349233 + SNUH_G21_S1 COSM3683496 c.811A>C p.T271P Substitution - Missense 4:9330721-9330721 + SNUH_G57_S1 COSM3683591 c.1372A>C p.T458P Substitution - Missense 4:9350264-9350264 + SNUH_G16_S1 COSM3683593 c.1475C>T p.S492L Substitution - Missense 4:9350367-9350367 + CN-AML-CR-45-Dx COSM5424351 c.75C>A p.P25P Substitution - coding silent 4:9325239-9325239 + SNUH_G26_S1 COSM3683519 c.395T>C p.I132T Substitution - Missense 4:9335052-9335052 + CN-AML-CR-39-Dx COSM5426735 c.444A>T p.A148A Substitution - coding silent 4:9354081-9354081 + SNUH_G10_S1 COSM3683628 c.357T>C p.R119R Substitution - coding silent 4:9363485-9363485 + SNUH_G26_S1 COSM3683548 c.397A>C p.T133P Substitution - Missense 4:9344544-9344544 + SNUH_G10_S1 COSM3683597 c.159T>C p.D53D Substitution - coding silent 4:9353796-9353796 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.740243 4p16.1