Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 6 137147593 137147593 + Missense_Mutation SNP G G C TCGA-YC-A8S6-01A-31D-A38G-08 TCGA-YC-A8S6-10A-01D-A38J-08 g.chr6:137147593G>C c.325G>C c.(325-327)Gaa>Caa p.E109Q BLCA 6 137166802 137166802 + Missense_Mutation SNP C C G TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr6:137166802C>G c.389C>G c.(388-390)tCt>tGt p.S130C BLCA 6 137167279 137167279 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr6:137167279C>G c.486C>G c.(484-486)atC>atG p.I162M BRCA 6 137147511 137147511 + Missense_Mutation SNP T T G TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 g.chr6:137147511T>G c.243T>G c.(241-243)caT>caG p.H81Q BRCA 6 137147540 137147540 + Missense_Mutation SNP C C G TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 g.chr6:137147540C>G c.272C>G c.(271-273)tCg>tGg p.S91W BRCA 6 137191068 137191068 + Missense_Mutation SNP G G T TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 g.chr6:137191068G>T c.674G>T c.(673-675)gGc>gTc p.G225V COAD 6 137147527 137147527 + Missense_Mutation SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr6:137147527A>G c.259A>G c.(259-261)Agt>Ggt p.S87G COADREAD 6 137147527 137147527 + Missense_Mutation SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr6:137147527A>G c.259A>G c.(259-261)Agt>Ggt p.S87G ESCA 6 137191072 137191072 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 g.chr6:137191072G>T c.678G>T c.(676-678)tgG>tgT p.W226C GBMLGG 6 137193348 137193348 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:137193348C>A c.760C>A c.(760-762)Cat>Aat p.H254N KIPAN 6 137191121 137191121 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr6:137191121T>C c.727T>C c.(727-729)Tat>Cat p.Y243H KIRC 6 137191121 137191121 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr6:137191121T>C c.727T>C c.(727-729)Tat>Cat p.Y243H LGG 6 137193348 137193348 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:137193348C>A c.760C>A c.(760-762)Cat>Aat p.H254N LIHC 6 137191048 137191048 + Silent SNP G G T TCGA-UB-AA0V-01A-11D-A382-10 TCGA-UB-AA0V-10A-01D-A385-10 g.chr6:137191048G>T c.654G>T c.(652-654)gcG>gcT p.A218A LIHC 6 137193356 137193356 + Silent SNP T T C TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr6:137193356T>C c.768T>C c.(766-768)tcT>tcC p.S256S LUAD 6 137191109 137191109 + Missense_Mutation SNP C C G TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr6:137191109C>G c.715C>G c.(715-717)Ctt>Gtt p.L239V LUSC 6 137187869 137187869 + Missense_Mutation SNP G G C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 g.chr6:137187869G>C c.631G>C c.(631-633)Gag>Cag p.E211Q LUSC 6 137219304 137219304 + Missense_Mutation SNP C C G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr6:137219304C>G c.828C>G c.(826-828)gaC>gaG p.D276E PAAD 6 137191085 137191085 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:137191085G>A c.691G>A c.(691-693)Gta>Ata p.V231I PAAD 6 137193340 137193340 + Missense_Mutation SNP C C T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 g.chr6:137193340C>T c.752C>T c.(751-753)tCa>tTa p.S251L PAAD 6 137234651 137234651 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:137234651C>A c.959C>A c.(958-960)aCt>aAt p.T320N PRAD 6 137191048 137191048 + Silent SNP G G A TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr6:137191048G>A c.654G>A c.(652-654)gcG>gcA p.A218A SARC 6 137147605 137147605 + Missense_Mutation SNP G G C TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 g.chr6:137147605G>C c.337G>C c.(337-339)Gag>Cag p.E113Q SKCM 6 137191066 137191066 + Silent SNP A A G TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr6:137191066A>G c.672A>G c.(670-672)agA>agG p.R224R SKCM 6 137193340 137193340 + Missense_Mutation SNP C C T TCGA-ER-A19S-06A-11D-A196-08 TCGA-ER-A19S-10A-01D-A198-08 g.chr6:137193340C>T c.752C>T c.(751-753)tCa>tTa p.S251L SKCM 6 137219309 137219309 + Missense_Mutation SNP T T A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 g.chr6:137219309T>A c.833T>A c.(832-834)cTt>cAt p.L278H

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 6 137191065 137191065 single base substitution G C missense_variant R224T 671G>C BLCA-US 6 137167279 137167279 single base substitution C G missense_variant I162M 486C>G BOCA-FR 6 137144054 137144054 single base substitution G C intron_variant BRCA-EU 6 137142413 137142413 single base substitution C T upstream_gene_variant BRCA-EU 6 137144645 137144645 single base substitution G A intron_variant BRCA-EU 6 137145105 137145105 single base substitution C T intron_variant BRCA-EU 6 137145720 137145720 single base substitution A G intron_variant BRCA-EU 6 137146522 137146522 single base substitution C T intron_variant BRCA-EU 6 137149589 137149589 single base substitution A T intron_variant BRCA-EU 6 137152444 137152444 single base substitution C G downstream_gene_variant BRCA-EU 6 137152444 137152444 single base substitution C G intron_variant BRCA-EU 6 137152973 137152973 single base substitution G A downstream_gene_variant BRCA-EU 6 137152973 137152973 single base substitution G A intron_variant BRCA-EU 6 137155628 137155628 single base substitution T A downstream_gene_variant BRCA-EU 6 137155628 137155628 single base substitution T A intron_variant BRCA-EU 6 137159483 137159483 single base substitution G A intron_variant BRCA-EU 6 137159658 137159658 single base substitution G A intron_variant BRCA-EU 6 137160005 137160005 single base substitution C T intron_variant BRCA-EU 6 137162013 137162013 single base substitution C G intron_variant BRCA-EU 6 137162820 137162820 single base substitution C T intron_variant BRCA-EU 6 137163111 137163111 single base substitution T C intron_variant BRCA-EU 6 137164175 137164175 single base substitution A G intron_variant BRCA-EU 6 137165487 137165487 single base substitution C T intron_variant BRCA-EU 6 137167764 137167764 single base substitution G A intron_variant BRCA-EU 6 137169565 137169565 single base substitution C G intron_variant BRCA-EU 6 137170201 137170201 single base substitution T C intron_variant BRCA-EU 6 137170819 137170819 single base substitution C G intron_variant BRCA-EU 6 137171214 137171214 single base substitution C G intron_variant BRCA-EU 6 137171873 137171873 single base substitution C T intron_variant BRCA-EU 6 137171915 137171915 single base substitution G A intron_variant BRCA-EU 6 137174786 137174786 single base substitution A T intron_variant BRCA-EU 6 137176624 137176624 single base substitution C T intron_variant BRCA-EU 6 137176710 137176714 deletion of <=200bp TCAGG - intron_variant BRCA-EU 6 137176953 137176953 single base substitution A T intron_variant BRCA-EU 6 137177484 137177484 single base substitution G C intron_variant BRCA-EU 6 137180492 137180492 single base substitution A T intron_variant BRCA-EU 6 137180751 137180751 single base substitution G A intron_variant BRCA-EU 6 137181387 137181387 single base substitution C G intron_variant BRCA-EU 6 137181437 137181437 single base substitution A G intron_variant BRCA-EU 6 137182718 137182718 deletion of <=200bp T - intron_variant BRCA-EU 6 137183262 137183262 single base substitution G T intron_variant BRCA-EU 6 137183468 137183468 single base substitution A G intron_variant BRCA-EU 6 137184919 137184919 single base substitution C T intron_variant BRCA-EU 6 137186235 137186235 single base substitution C T intron_variant BRCA-EU 6 137186586 137186586 single base substitution G A intron_variant BRCA-EU 6 137188376 137188376 single base substitution C T intron_variant BRCA-EU 6 137188789 137188789 single base substitution G A intron_variant BRCA-EU 6 137191581 137191581 single base substitution G C intron_variant BRCA-EU 6 137192302 137192302 single base substitution G A intron_variant BRCA-EU 6 137193932 137193932 deletion of <=200bp T - intron_variant BRCA-EU 6 137194084 137194084 deletion of <=200bp T - intron_variant BRCA-EU 6 137194827 137194827 single base substitution G C intron_variant BRCA-EU 6 137196293 137196293 single base substitution A G intron_variant BRCA-EU 6 137196298 137196298 single base substitution T C intron_variant BRCA-EU 6 137196408 137196408 single base substitution C T intron_variant BRCA-EU 6 137199137 137199137 single base substitution C T intron_variant BRCA-EU 6 137199331 137199331 single base substitution G T intron_variant BRCA-EU 6 137199395 137199395 single base substitution C T intron_variant BRCA-EU 6 137200211 137200211 deletion of <=200bp T - intron_variant BRCA-EU 6 137200290 137200290 single base substitution A G intron_variant BRCA-EU 6 137201179 137201179 single base substitution G T intron_variant BRCA-EU 6 137201229 137201229 single base substitution A G intron_variant BRCA-EU 6 137205063 137205063 deletion of <=200bp T - intron_variant BRCA-EU 6 137205507 137205507 single base substitution G A intron_variant BRCA-EU 6 137208567 137208567 single base substitution T C intron_variant BRCA-EU 6 137210183 137210183 single base substitution T C intron_variant BRCA-EU 6 137211007 137211007 single base substitution C T intron_variant BRCA-EU 6 137212793 137212793 single base substitution T C intron_variant BRCA-EU 6 137215185 137215185 single base substitution G C intron_variant BRCA-EU 6 137216087 137216087 single base substitution G T intron_variant BRCA-EU 6 137217135 137217135 single base substitution C T intron_variant BRCA-EU 6 137217849 137217849 single base substitution T G intron_variant BRCA-EU 6 137219115 137219115 single base substitution C G intron_variant BRCA-EU 6 137220488 137220488 single base substitution C T intron_variant BRCA-EU 6 137220615 137220615 single base substitution C A intron_variant BRCA-EU 6 137222806 137222806 single base substitution G T intron_variant BRCA-EU 6 137222807 137222807 single base substitution A G intron_variant BRCA-EU 6 137225707 137225707 single base substitution C G intron_variant BRCA-EU 6 137226226 137226226 deletion of <=200bp T - intron_variant BRCA-EU 6 137228705 137228705 single base substitution A T intron_variant BRCA-EU 6 137228973 137228973 single base substitution G A intron_variant BRCA-EU 6 137229576 137229576 insertion of <=200bp - T intron_variant BRCA-EU 6 137231378 137231378 single base substitution A T intron_variant BRCA-EU 6 137231465 137231465 single base substitution G A intron_variant BRCA-EU 6 137232291 137232291 single base substitution C A intron_variant BRCA-EU 6 137232554 137232554 deletion of <=200bp T - intron_variant BRCA-EU 6 137236156 137236156 single base substitution A T downstream_gene_variant BRCA-EU 6 137236975 137236975 single base substitution G T downstream_gene_variant BRCA-EU 6 137238543 137238543 single base substitution G A downstream_gene_variant BRCA-EU 6 137239584 137239584 single base substitution G A downstream_gene_variant BRCA-FR 6 137148440 137148440 single base substitution A T intron_variant BRCA-FR 6 137151598 137151598 single base substitution G C downstream_gene_variant BRCA-FR 6 137151598 137151598 single base substitution G C intron_variant BRCA-FR 6 137159483 137159483 single base substitution G A intron_variant BRCA-FR 6 137162013 137162013 single base substitution C G intron_variant BRCA-FR 6 137183262 137183262 single base substitution G T intron_variant BRCA-FR 6 137188789 137188789 single base substitution G A intron_variant BRCA-FR 6 137199395 137199395 single base substitution C T intron_variant BRCA-FR 6 137236156 137236156 single base substitution A T downstream_gene_variant BRCA-FR 6 137237357 137237357 single base substitution C T downstream_gene_variant BRCA-FR 6 137239584 137239584 single base substitution G A downstream_gene_variant BRCA-UK 6 137149708 137149708 single base substitution C T intron_variant BRCA-UK 6 137154455 137154455 single base substitution A G downstream_gene_variant BRCA-UK 6 137154455 137154455 single base substitution A G intron_variant BRCA-UK 6 137217849 137217849 single base substitution T G intron_variant BRCA-UK 6 137225726 137225726 single base substitution C G intron_variant BRCA-UK 6 137225905 137225905 single base substitution C G intron_variant BRCA-US 6 137147511 137147511 single base substitution T G missense_variant H81Q 243T>G BRCA-US 6 137147540 137147540 single base substitution C G missense_variant S91W 272C>G BRCA-US 6 137191068 137191068 single base substitution G T missense_variant G225V 674G>T BTCA-JP 6 137193321 137193321 deletion of <=200bp T - intron_variant CESC-US 6 137222245 137222245 single base substitution C T intron_variant CLLE-ES 6 137161707 137161707 single base substitution G A intron_variant CLLE-ES 6 137166125 137166125 single base substitution T C intron_variant CLLE-ES 6 137200356 137200356 single base substitution G T intron_variant CLLE-ES 6 137203165 137203165 insertion of <=200bp - A intron_variant CLLE-ES 6 137227621 137227621 single base substitution T A intron_variant COAD-US 6 137147527 137147527 single base substitution A G missense_variant S87G 259A>G COCA-CN 6 137139520 137139520 single base substitution T C upstream_gene_variant COCA-CN 6 137147377 137147377 single base substitution C A intron_variant COCA-CN 6 137151180 137151180 single base substitution C A 3_prime_UTR_variant COCA-CN 6 137151180 137151180 single base substitution C A intron_variant COCA-CN 6 137161671 137161671 single base substitution C T intron_variant COCA-CN 6 137166859 137166859 single base substitution G T intron_variant COCA-CN 6 137168425 137168425 single base substitution C T intron_variant COCA-CN 6 137168480 137168480 single base substitution A T intron_variant COCA-CN 6 137169801 137169801 single base substitution T C intron_variant COCA-CN 6 137187258 137187258 single base substitution A T intron_variant COCA-CN 6 137187606 137187606 single base substitution T A intron_variant COCA-CN 6 137187892 137187892 single base substitution C A intron_variant COCA-CN 6 137193321 137193321 single base substitution T C intron_variant COCA-CN 6 137193322 137193322 single base substitution T C intron_variant COCA-CN 6 137205770 137205770 single base substitution A T intron_variant COCA-CN 6 137215986 137215986 single base substitution G T intron_variant COCA-CN 6 137219264 137219264 single base substitution T G intron_variant COCA-CN 6 137229465 137229465 single base substitution C T intron_variant COCA-CN 6 137234781 137234781 single base substitution C A 3_prime_UTR_variant COCA-CN 6 137239087 137239087 single base substitution T A downstream_gene_variant EOPC-DE 6 137145079 137145079 single base substitution A G intron_variant EOPC-DE 6 137146732 137146732 single base substitution C T intron_variant EOPC-DE 6 137181509 137181509 single base substitution T G intron_variant ESAD-UK 6 137145029 137145029 deletion of <=200bp A - intron_variant ESAD-UK 6 137146976 137146976 single base substitution A T intron_variant ESAD-UK 6 137150611 137150611 single base substitution C A intron_variant ESAD-UK 6 137158122 137158122 single base substitution T G intron_variant ESAD-UK 6 137158230 137158230 single base substitution C T intron_variant ESAD-UK 6 137158628 137158628 deletion of <=200bp A - intron_variant ESAD-UK 6 137159395 137159395 single base substitution T C intron_variant ESAD-UK 6 137159459 137159459 insertion of <=200bp - A intron_variant ESAD-UK 6 137160194 137160194 single base substitution C T intron_variant ESAD-UK 6 137160852 137160854 deletion of <=200bp AGA - intron_variant ESAD-UK 6 137162121 137162121 single base substitution A T intron_variant ESAD-UK 6 137166398 137166398 deletion of <=200bp T - intron_variant ESAD-UK 6 137166846 137166846 single base substitution T A intron_variant ESAD-UK 6 137166951 137166951 single base substitution T A intron_variant ESAD-UK 6 137176602 137176602 single base substitution C T intron_variant ESAD-UK 6 137178438 137178438 single base substitution C T intron_variant ESAD-UK 6 137182557 137182557 single base substitution C T intron_variant ESAD-UK 6 137183144 137183144 single base substitution A T intron_variant ESAD-UK 6 137183836 137183836 single base substitution A G intron_variant ESAD-UK 6 137184855 137184855 single base substitution G C intron_variant ESAD-UK 6 137186493 137186493 single base substitution G A intron_variant ESAD-UK 6 137186776 137186776 single base substitution C T intron_variant ESAD-UK 6 137187442 137187442 single base substitution C T intron_variant ESAD-UK 6 137188282 137188282 single base substitution T G intron_variant ESAD-UK 6 137196598 137196598 single base substitution T A intron_variant ESAD-UK 6 137199655 137199655 single base substitution G T intron_variant ESAD-UK 6 137200107 137200107 single base substitution A G intron_variant ESAD-UK 6 137200571 137200571 single base substitution G C intron_variant ESAD-UK 6 137201629 137201629 single base substitution C T intron_variant ESAD-UK 6 137208512 137208512 single base substitution A G intron_variant ESAD-UK 6 137211171 137211171 single base substitution C T intron_variant ESAD-UK 6 137213099 137213099 single base substitution G T intron_variant ESAD-UK 6 137216298 137216298 single base substitution G A intron_variant ESAD-UK 6 137216959 137216959 single base substitution A G intron_variant ESAD-UK 6 137218262 137218262 single base substitution G A intron_variant ESAD-UK 6 137218315 137218315 single base substitution A C intron_variant ESAD-UK 6 137219958 137219958 single base substitution A T intron_variant ESAD-UK 6 137219989 137219989 single base substitution G A intron_variant ESAD-UK 6 137221219 137221219 single base substitution G A intron_variant ESAD-UK 6 137221691 137221691 single base substitution G A intron_variant ESAD-UK 6 137226791 137226791 single base substitution T C intron_variant ESAD-UK 6 137227454 137227454 single base substitution T A intron_variant ESAD-UK 6 137228214 137228214 single base substitution G A intron_variant ESAD-UK 6 137229080 137229080 single base substitution A G intron_variant ESAD-UK 6 137229530 137229530 single base substitution C A intron_variant ESAD-UK 6 137230601 137230601 single base substitution A T intron_variant ESAD-UK 6 137235546 137235546 single base substitution G A downstream_gene_variant ESAD-UK 6 137236127 137236127 single base substitution C T downstream_gene_variant ESCA-CN 6 137193320 137193320 single base substitution C T intron_variant LAML-KR 6 137183651 137183651 single base substitution C T intron_variant LAML-KR 6 137183658 137183658 single base substitution T C intron_variant LAML-KR 6 137193320 137193320 single base substitution C T intron_variant LICA-FR 6 137163065 137163065 single base substitution T C intron_variant LICA-FR 6 137164052 137164052 single base substitution G T intron_variant LICA-FR 6 137173504 137173504 single base substitution A T intron_variant LICA-FR 6 137181548 137181548 insertion of <=200bp - T intron_variant LICA-FR 6 137218865 137218865 single base substitution A G intron_variant LICA-FR 6 137224475 137224475 insertion of <=200bp - T intron_variant LINC-JP 6 137142037 137142037 single base substitution A G upstream_gene_variant LINC-JP 6 137151255 137151255 single base substitution A C 3_prime_UTR_variant LINC-JP 6 137151255 137151255 single base substitution A C intron_variant LINC-JP 6 137151260 137151260 single base substitution A G 3_prime_UTR_variant LINC-JP 6 137151260 137151260 single base substitution A G intron_variant LINC-JP 6 137151342 137151342 single base substitution A G 3_prime_UTR_variant LINC-JP 6 137151342 137151342 single base substitution A G intron_variant LINC-JP 6 137154624 137154628 deletion of <=200bp ACACA - downstream_gene_variant LINC-JP 6 137154624 137154628 deletion of <=200bp ACACA - intron_variant LINC-JP 6 137159501 137159501 single base substitution C T intron_variant LINC-JP 6 137159502 137159502 single base substitution A T intron_variant LINC-JP 6 137170911 137170911 single base substitution G A intron_variant LINC-JP 6 137188138 137188138 single base substitution T C intron_variant LINC-JP 6 137210281 137210281 single base substitution A G intron_variant LINC-JP 6 137216667 137216667 single base substitution A G intron_variant LINC-JP 6 137226671 137226671 single base substitution T C intron_variant LINC-JP 6 137229691 137229691 single base substitution G A intron_variant LIRI-JP 6 137139844 137139844 single base substitution T A upstream_gene_variant LIRI-JP 6 137140148 137140148 single base substitution G C upstream_gene_variant LIRI-JP 6 137141931 137141932 deletion of <=200bp TA - upstream_gene_variant LIRI-JP 6 137142281 137142281 single base substitution C T upstream_gene_variant LIRI-JP 6 137145416 137145416 single base substitution G A intron_variant LIRI-JP 6 137147619 137147619 single base substitution A G intron_variant LIRI-JP 6 137147859 137147859 single base substitution G T intron_variant LIRI-JP 6 137148237 137148237 single base substitution A G intron_variant LIRI-JP 6 137150535 137150535 single base substitution A C intron_variant LIRI-JP 6 137150664 137150664 single base substitution A G intron_variant LIRI-JP 6 137151230 137151230 single base substitution A G 3_prime_UTR_variant LIRI-JP 6 137151230 137151230 single base substitution A G intron_variant LIRI-JP 6 137153527 137153527 single base substitution G T downstream_gene_variant LIRI-JP 6 137153527 137153527 single base substitution G T intron_variant LIRI-JP 6 137154691 137154691 deletion of <=200bp A - downstream_gene_variant LIRI-JP 6 137154691 137154691 deletion of <=200bp A - intron_variant LIRI-JP 6 137157800 137157800 single base substitution A G intron_variant LIRI-JP 6 137158343 137158343 single base substitution T C intron_variant LIRI-JP 6 137158941 137158941 single base substitution A T intron_variant LIRI-JP 6 137159213 137159213 single base substitution A G intron_variant LIRI-JP 6 137159980 137159980 single base substitution A G intron_variant LIRI-JP 6 137161396 137161396 single base substitution T C intron_variant LIRI-JP 6 137164228 137164228 single base substitution C A intron_variant LIRI-JP 6 137165376 137165376 single base substitution C T intron_variant LIRI-JP 6 137166648 137166648 single base substitution A G intron_variant LIRI-JP 6 137169673 137169673 single base substitution G C intron_variant LIRI-JP 6 137174928 137174928 single base substitution T C intron_variant LIRI-JP 6 137175635 137175635 single base substitution A G intron_variant LIRI-JP 6 137178153 137178153 single base substitution A G intron_variant LIRI-JP 6 137178942 137178942 single base substitution A G intron_variant LIRI-JP 6 137179561 137179561 single base substitution G C intron_variant LIRI-JP 6 137184276 137184276 single base substitution A G intron_variant LIRI-JP 6 137184302 137184302 single base substitution A G intron_variant LIRI-JP 6 137184474 137184474 single base substitution C A intron_variant LIRI-JP 6 137184914 137184914 single base substitution G T intron_variant LIRI-JP 6 137186057 137186057 single base substitution G A intron_variant LIRI-JP 6 137188417 137188417 single base substitution A G intron_variant LIRI-JP 6 137190028 137190028 single base substitution C T intron_variant LIRI-JP 6 137190730 137190730 single base substitution C G intron_variant LIRI-JP 6 137190930 137190930 single base substitution A G intron_variant LIRI-JP 6 137191789 137191802 deletion of <=200bp CCTTATTGATTATT - intron_variant LIRI-JP 6 137192659 137192659 single base substitution C T intron_variant LIRI-JP 6 137193847 137193847 single base substitution G A intron_variant LIRI-JP 6 137194883 137194883 single base substitution G T intron_variant LIRI-JP 6 137199670 137199670 single base substitution G A intron_variant LIRI-JP 6 137200111 137200111 single base substitution A G intron_variant LIRI-JP 6 137200617 137200617 single base substitution A G intron_variant LIRI-JP 6 137201408 137201408 single base substitution A G intron_variant LIRI-JP 6 137201578 137201578 single base substitution G A intron_variant LIRI-JP 6 137203035 137203035 single base substitution C T intron_variant LIRI-JP 6 137206464 137206464 single base substitution T G intron_variant LIRI-JP 6 137211745 137211745 single base substitution A G intron_variant LIRI-JP 6 137218275 137218275 single base substitution A G intron_variant LIRI-JP 6 137219022 137219022 single base substitution A G intron_variant LIRI-JP 6 137222947 137222947 single base substitution G A intron_variant LIRI-JP 6 137224788 137224788 single base substitution A G intron_variant LIRI-JP 6 137226892 137226892 single base substitution A G intron_variant LIRI-JP 6 137232221 137232221 single base substitution A T intron_variant LIRI-JP 6 137234678 137234678 single base substitution G T 3_prime_UTR_variant LIRI-JP 6 137235800 137235800 single base substitution T C downstream_gene_variant LIRI-JP 6 137236492 137236492 single base substitution C T downstream_gene_variant LUSC-CN 6 137147541 137147541 single base substitution G C synonymous_variant S91S 273G>C LUSC-KR 6 137140246 137140246 single base substitution C G upstream_gene_variant LUSC-KR 6 137150626 137150626 single base substitution G A intron_variant LUSC-KR 6 137157709 137157709 single base substitution A T intron_variant LUSC-KR 6 137164092 137164092 single base substitution G T intron_variant LUSC-KR 6 137167617 137167617 single base substitution G T intron_variant LUSC-KR 6 137170680 137170680 single base substitution G A intron_variant LUSC-KR 6 137172100 137172100 single base substitution C T intron_variant LUSC-KR 6 137173634 137173634 single base substitution A G intron_variant LUSC-KR 6 137177996 137177996 single base substitution G T intron_variant LUSC-KR 6 137181026 137181026 single base substitution G T intron_variant LUSC-KR 6 137182454 137182454 single base substitution C G intron_variant LUSC-KR 6 137186387 137186387 single base substitution G C intron_variant LUSC-KR 6 137190909 137190909 single base substitution T C intron_variant LUSC-KR 6 137194356 137194356 single base substitution C T intron_variant LUSC-KR 6 137196642 137196642 single base substitution C T intron_variant LUSC-KR 6 137196762 137196762 single base substitution C T intron_variant LUSC-KR 6 137196922 137196922 single base substitution C G intron_variant LUSC-KR 6 137197622 137197622 single base substitution C G intron_variant LUSC-KR 6 137197929 137197929 single base substitution A T intron_variant LUSC-KR 6 137199930 137199930 single base substitution C G intron_variant LUSC-KR 6 137203526 137203526 single base substitution G A intron_variant LUSC-KR 6 137207771 137207771 single base substitution G T intron_variant LUSC-KR 6 137218803 137218803 single base substitution G T intron_variant LUSC-KR 6 137223081 137223081 single base substitution G T intron_variant LUSC-KR 6 137225371 137225371 single base substitution G T intron_variant LUSC-KR 6 137227228 137227228 single base substitution A T intron_variant LUSC-KR 6 137230107 137230107 single base substitution C A intron_variant LUSC-KR 6 137233228 137233228 single base substitution G C intron_variant LUSC-US 6 137187869 137187869 single base substitution G C missense_variant E211Q 631G>C LUSC-US 6 137219304 137219304 single base substitution C G 3_prime_UTR_variant LUSC-US 6 137219304 137219304 single base substitution C G missense_variant D276E 828C>G MALY-DE 6 137138760 137138760 single base substitution C A upstream_gene_variant MALY-DE 6 137143976 137143976 single base substitution A G intron_variant MALY-DE 6 137155371 137155371 single base substitution C G downstream_gene_variant MALY-DE 6 137155371 137155371 single base substitution C G intron_variant MALY-DE 6 137159383 137159383 single base substitution A T intron_variant MALY-DE 6 137176852 137176852 single base substitution A G intron_variant MALY-DE 6 137178259 137178259 single base substitution C T intron_variant MALY-DE 6 137178388 137178388 insertion of <=200bp - T intron_variant MALY-DE 6 137200218 137200218 single base substitution T C intron_variant MALY-DE 6 137205827 137205827 single base substitution A C intron_variant MALY-DE 6 137206767 137206767 single base substitution G A intron_variant MALY-DE 6 137209597 137209597 single base substitution G A intron_variant MALY-DE 6 137211535 137211535 single base substitution G A intron_variant MALY-DE 6 137232196 137232196 single base substitution A G intron_variant MALY-DE 6 137239163 137239163 single base substitution A G downstream_gene_variant MELA-AU 6 137138884 137138884 single base substitution C T upstream_gene_variant MELA-AU 6 137139231 137139231 single base substitution C T upstream_gene_variant MELA-AU 6 137139524 137139524 single base substitution C T upstream_gene_variant MELA-AU 6 137140120 137140120 single base substitution G A upstream_gene_variant MELA-AU 6 137140325 137140325 single base substitution C T upstream_gene_variant MELA-AU 6 137141422 137141422 single base substitution C T upstream_gene_variant MELA-AU 6 137141457 137141457 single base substitution C T upstream_gene_variant MELA-AU 6 137141754 137141754 single base substitution G A upstream_gene_variant MELA-AU 6 137141868 137141868 single base substitution G A upstream_gene_variant MELA-AU 6 137142493 137142493 single base substitution G A upstream_gene_variant MELA-AU 6 137144619 137144619 single base substitution C T intron_variant MELA-AU 6 137144619 137144620 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 137144997 137144997 single base substitution C T intron_variant MELA-AU 6 137145050 137145050 single base substitution C T intron_variant MELA-AU 6 137145585 137145585 single base substitution C T intron_variant MELA-AU 6 137145829 137145829 single base substitution C T intron_variant MELA-AU 6 137146180 137146180 single base substitution C A intron_variant MELA-AU 6 137146513 137146513 single base substitution G A intron_variant MELA-AU 6 137146930 137146930 single base substitution C T intron_variant MELA-AU 6 137148228 137148228 single base substitution C T intron_variant MELA-AU 6 137149042 137149042 single base substitution C T intron_variant MELA-AU 6 137149134 137149134 single base substitution C T intron_variant MELA-AU 6 137149501 137149501 single base substitution C T intron_variant MELA-AU 6 137149800 137149801 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 137149873 137149873 single base substitution G A intron_variant MELA-AU 6 137149883 137149883 single base substitution C T intron_variant MELA-AU 6 137150133 137150133 single base substitution C T intron_variant MELA-AU 6 137150304 137150304 single base substitution C T intron_variant MELA-AU 6 137150810 137150810 single base substitution C T intron_variant MELA-AU 6 137150904 137150904 single base substitution C T intron_variant MELA-AU 6 137151029 137151029 single base substitution C T intron_variant MELA-AU 6 137151138 137151138 single base substitution C T intron_variant MELA-AU 6 137151288 137151288 single base substitution G A 3_prime_UTR_variant MELA-AU 6 137151288 137151288 single base substitution G A intron_variant MELA-AU 6 137151457 137151457 single base substitution C T downstream_gene_variant MELA-AU 6 137151457 137151457 single base substitution C T intron_variant MELA-AU 6 137151539 137151539 single base substitution C T downstream_gene_variant MELA-AU 6 137151539 137151539 single base substitution C T intron_variant MELA-AU 6 137152015 137152016 multiple base substitution (>=2bp and <=200bp) AC TA downstream_gene_variant MELA-AU 6 137152015 137152016 multiple base substitution (>=2bp and <=200bp) AC TA intron_variant MELA-AU 6 137152623 137152623 single base substitution C T downstream_gene_variant MELA-AU 6 137152623 137152623 single base substitution C T intron_variant MELA-AU 6 137152646 137152647 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 6 137152646 137152647 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 137152964 137152964 single base substitution C T downstream_gene_variant MELA-AU 6 137152964 137152964 single base substitution C T intron_variant MELA-AU 6 137152984 137152984 single base substitution C T downstream_gene_variant MELA-AU 6 137152984 137152984 single base substitution C T intron_variant MELA-AU 6 137153515 137153515 single base substitution C T downstream_gene_variant MELA-AU 6 137153515 137153515 single base substitution C T intron_variant MELA-AU 6 137153534 137153534 single base substitution C T downstream_gene_variant MELA-AU 6 137153534 137153534 single base substitution C T intron_variant MELA-AU 6 137153618 137153618 single base substitution C T downstream_gene_variant MELA-AU 6 137153618 137153618 single base substitution C T intron_variant MELA-AU 6 137155738 137155738 single base substitution C T downstream_gene_variant MELA-AU 6 137155738 137155738 single base substitution C T intron_variant MELA-AU 6 137156590 137156590 single base substitution C T intron_variant MELA-AU 6 137156975 137156975 single base substitution C T intron_variant MELA-AU 6 137157922 137157922 single base substitution C T intron_variant MELA-AU 6 137158282 137158282 single base substitution G A intron_variant MELA-AU 6 137158303 137158303 single base substitution C T intron_variant MELA-AU 6 137158454 137158454 single base substitution C T intron_variant MELA-AU 6 137159098 137159098 single base substitution G A intron_variant MELA-AU 6 137160315 137160315 single base substitution C T intron_variant MELA-AU 6 137161434 137161434 single base substitution C T intron_variant MELA-AU 6 137161950 137161950 single base substitution C T intron_variant MELA-AU 6 137162125 137162125 single base substitution A T intron_variant MELA-AU 6 137162246 137162246 single base substitution G T intron_variant MELA-AU 6 137162828 137162828 single base substitution C T intron_variant MELA-AU 6 137163091 137163091 single base substitution A G intron_variant MELA-AU 6 137163438 137163438 single base substitution C T intron_variant MELA-AU 6 137164046 137164046 single base substitution T G intron_variant MELA-AU 6 137164049 137164049 single base substitution A G intron_variant MELA-AU 6 137164570 137164570 single base substitution A G intron_variant MELA-AU 6 137164939 137164939 single base substitution C T intron_variant MELA-AU 6 137165361 137165361 single base substitution C T intron_variant MELA-AU 6 137165502 137165502 single base substitution C T intron_variant MELA-AU 6 137165706 137165706 single base substitution A T intron_variant MELA-AU 6 137166897 137166897 single base substitution C T intron_variant MELA-AU 6 137166906 137166906 single base substitution C T intron_variant MELA-AU 6 137167084 137167084 single base substitution C T intron_variant MELA-AU 6 137167377 137167377 single base substitution T A intron_variant MELA-AU 6 137168825 137168825 single base substitution C T intron_variant MELA-AU 6 137168969 137168969 single base substitution C T intron_variant MELA-AU 6 137169002 137169002 single base substitution T A intron_variant MELA-AU 6 137169234 137169234 single base substitution C T intron_variant MELA-AU 6 137169263 137169263 single base substitution C T intron_variant MELA-AU 6 137169444 137169444 single base substitution C T intron_variant MELA-AU 6 137169545 137169545 single base substitution C T intron_variant MELA-AU 6 137169650 137169650 single base substitution G A intron_variant MELA-AU 6 137169949 137169949 single base substitution C T intron_variant MELA-AU 6 137170488 137170488 single base substitution C T intron_variant MELA-AU 6 137170533 137170533 single base substitution C T intron_variant MELA-AU 6 137170740 137170740 single base substitution C T intron_variant MELA-AU 6 137171230 137171230 single base substitution C T intron_variant MELA-AU 6 137171371 137171371 single base substitution A C intron_variant MELA-AU 6 137171371 137171371 single base substitution A T intron_variant MELA-AU 6 137173370 137173370 single base substitution C T intron_variant MELA-AU 6 137174745 137174745 single base substitution C T intron_variant MELA-AU 6 137174885 137174885 single base substitution A T intron_variant MELA-AU 6 137175551 137175551 single base substitution C T intron_variant MELA-AU 6 137175566 137175566 single base substitution C T intron_variant MELA-AU 6 137176276 137176276 single base substitution A G intron_variant MELA-AU 6 137176408 137176408 single base substitution C T intron_variant MELA-AU 6 137176650 137176650 single base substitution G T intron_variant MELA-AU 6 137176700 137176700 single base substitution G A intron_variant MELA-AU 6 137176807 137176807 single base substitution G A intron_variant MELA-AU 6 137177170 137177171 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 137177755 137177755 single base substitution C T intron_variant MELA-AU 6 137178033 137178033 single base substitution C T intron_variant MELA-AU 6 137178196 137178196 single base substitution C T intron_variant MELA-AU 6 137178736 137178736 single base substitution G A intron_variant MELA-AU 6 137179050 137179050 single base substitution C T intron_variant MELA-AU 6 137179319 137179319 single base substitution C T intron_variant MELA-AU 6 137179411 137179411 single base substitution G T intron_variant MELA-AU 6 137180804 137180804 single base substitution G A intron_variant MELA-AU 6 137180910 137180910 single base substitution C T intron_variant MELA-AU 6 137181041 137181041 single base substitution T G intron_variant MELA-AU 6 137181229 137181229 single base substitution C T intron_variant MELA-AU 6 137181742 137181742 single base substitution A G intron_variant MELA-AU 6 137182491 137182491 single base substitution G A intron_variant MELA-AU 6 137182648 137182648 single base substitution C T intron_variant MELA-AU 6 137182786 137182786 single base substitution G A intron_variant MELA-AU 6 137182804 137182804 single base substitution A T intron_variant MELA-AU 6 137183868 137183868 single base substitution C T intron_variant MELA-AU 6 137184259 137184259 single base substitution C T intron_variant MELA-AU 6 137184465 137184465 single base substitution C T intron_variant MELA-AU 6 137185047 137185047 single base substitution C A intron_variant MELA-AU 6 137186284 137186284 single base substitution T A intron_variant MELA-AU 6 137186321 137186321 single base substitution G A intron_variant MELA-AU 6 137186466 137186466 single base substitution C T intron_variant MELA-AU 6 137186470 137186470 single base substitution C T intron_variant MELA-AU 6 137186662 137186663 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 137186839 137186839 single base substitution C T intron_variant MELA-AU 6 137186842 137186842 single base substitution G A intron_variant MELA-AU 6 137187891 137187892 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 137187994 137187994 single base substitution C T intron_variant MELA-AU 6 137189094 137189094 single base substitution C T intron_variant MELA-AU 6 137189328 137189328 single base substitution G A intron_variant MELA-AU 6 137189437 137189437 single base substitution C T intron_variant MELA-AU 6 137190029 137190029 single base substitution C T intron_variant MELA-AU 6 137190084 137190084 single base substitution C T intron_variant MELA-AU 6 137190288 137190288 single base substitution C T intron_variant MELA-AU 6 137190410 137190410 single base substitution C T intron_variant MELA-AU 6 137190650 137190650 single base substitution C T intron_variant MELA-AU 6 137190675 137190675 single base substitution G A intron_variant MELA-AU 6 137190825 137190825 single base substitution C T intron_variant MELA-AU 6 137190934 137190934 single base substitution T A intron_variant MELA-AU 6 137191410 137191410 single base substitution C T intron_variant MELA-AU 6 137192896 137192896 single base substitution A G intron_variant MELA-AU 6 137193087 137193087 single base substitution G T intron_variant MELA-AU 6 137193089 137193089 single base substitution T G intron_variant MELA-AU 6 137193139 137193139 single base substitution C T intron_variant MELA-AU 6 137193644 137193644 single base substitution C T intron_variant MELA-AU 6 137193750 137193750 single base substitution T C intron_variant MELA-AU 6 137193936 137193936 single base substitution C T intron_variant MELA-AU 6 137194125 137194125 single base substitution T C intron_variant MELA-AU 6 137194314 137194314 single base substitution C T intron_variant MELA-AU 6 137194524 137194525 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 137194731 137194731 single base substitution C T intron_variant MELA-AU 6 137195005 137195005 single base substitution C T intron_variant MELA-AU 6 137195258 137195258 single base substitution C T intron_variant MELA-AU 6 137196317 137196317 single base substitution C T intron_variant MELA-AU 6 137196363 137196363 single base substitution T C intron_variant MELA-AU 6 137196443 137196443 single base substitution T G intron_variant MELA-AU 6 137196708 137196708 single base substitution A G intron_variant MELA-AU 6 137196849 137196849 single base substitution A G intron_variant MELA-AU 6 137197279 137197279 single base substitution C T intron_variant MELA-AU 6 137197788 137197788 single base substitution C T intron_variant MELA-AU 6 137197907 137197907 single base substitution T A intron_variant MELA-AU 6 137198105 137198105 single base substitution C T intron_variant MELA-AU 6 137198686 137198686 single base substitution C T intron_variant MELA-AU 6 137199115 137199115 single base substitution C T intron_variant MELA-AU 6 137199455 137199456 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 137199984 137199984 single base substitution G A intron_variant MELA-AU 6 137200010 137200010 single base substitution C T intron_variant MELA-AU 6 137200242 137200242 single base substitution C T intron_variant MELA-AU 6 137200734 137200734 single base substitution T A intron_variant MELA-AU 6 137200736 137200736 single base substitution T G intron_variant MELA-AU 6 137201095 137201095 single base substitution C T intron_variant MELA-AU 6 137201100 137201100 single base substitution C T intron_variant MELA-AU 6 137201198 137201198 single base substitution C T intron_variant MELA-AU 6 137201925 137201925 single base substitution A G intron_variant MELA-AU 6 137202064 137202064 single base substitution G A intron_variant MELA-AU 6 137202304 137202304 single base substitution C T intron_variant MELA-AU 6 137202308 137202308 single base substitution C T intron_variant MELA-AU 6 137202665 137202665 single base substitution C T intron_variant MELA-AU 6 137202823 137202823 single base substitution C T intron_variant MELA-AU 6 137203603 137203603 single base substitution C T intron_variant MELA-AU 6 137204532 137204532 single base substitution C T intron_variant MELA-AU 6 137204741 137204741 single base substitution C T intron_variant MELA-AU 6 137205011 137205011 single base substitution C T intron_variant MELA-AU 6 137205061 137205061 single base substitution C T intron_variant MELA-AU 6 137206171 137206171 single base substitution C T intron_variant MELA-AU 6 137206239 137206239 single base substitution A G intron_variant MELA-AU 6 137206253 137206253 single base substitution C T intron_variant MELA-AU 6 137207962 137207963 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 6 137210008 137210008 single base substitution G A intron_variant MELA-AU 6 137211714 137211714 single base substitution C T intron_variant MELA-AU 6 137213936 137213936 single base substitution G A intron_variant MELA-AU 6 137213944 137213944 single base substitution C T intron_variant MELA-AU 6 137214527 137214527 single base substitution C T intron_variant MELA-AU 6 137215554 137215554 single base substitution C T intron_variant MELA-AU 6 137215905 137215905 single base substitution C T intron_variant MELA-AU 6 137217338 137217338 single base substitution G T intron_variant MELA-AU 6 137217408 137217408 single base substitution C T intron_variant MELA-AU 6 137217640 137217640 single base substitution C T intron_variant MELA-AU 6 137217711 137217711 single base substitution C T intron_variant MELA-AU 6 137218130 137218130 single base substitution T C intron_variant MELA-AU 6 137218822 137218822 single base substitution C T intron_variant MELA-AU 6 137219260 137219260 single base substitution C T intron_variant MELA-AU 6 137219578 137219578 single base substitution G A intron_variant MELA-AU 6 137220055 137220055 single base substitution C T intron_variant MELA-AU 6 137220157 137220157 single base substitution C T intron_variant MELA-AU 6 137220495 137220495 single base substitution C T intron_variant MELA-AU 6 137220670 137220670 single base substitution C T intron_variant MELA-AU 6 137220737 137220737 single base substitution C T intron_variant MELA-AU 6 137220738 137220738 single base substitution G A intron_variant MELA-AU 6 137220906 137220906 single base substitution C T intron_variant MELA-AU 6 137221687 137221687 single base substitution T C intron_variant MELA-AU 6 137222391 137222391 single base substitution C T intron_variant MELA-AU 6 137222771 137222771 single base substitution C T intron_variant MELA-AU 6 137223148 137223148 single base substitution C T intron_variant MELA-AU 6 137223684 137223684 single base substitution G A intron_variant MELA-AU 6 137223704 137223704 single base substitution C T intron_variant MELA-AU 6 137223776 137223776 single base substitution C T intron_variant MELA-AU 6 137224467 137224467 single base substitution T A intron_variant MELA-AU 6 137225152 137225152 single base substitution C T intron_variant MELA-AU 6 137225353 137225353 single base substitution A G intron_variant MELA-AU 6 137225488 137225488 single base substitution C T intron_variant MELA-AU 6 137225825 137225825 single base substitution C T intron_variant MELA-AU 6 137226032 137226032 single base substitution C T intron_variant MELA-AU 6 137226328 137226328 single base substitution G C intron_variant MELA-AU 6 137226688 137226688 single base substitution C T intron_variant MELA-AU 6 137226725 137226725 single base substitution C A intron_variant MELA-AU 6 137226914 137226914 single base substitution C T intron_variant MELA-AU 6 137226967 137226967 single base substitution C T intron_variant MELA-AU 6 137227300 137227300 single base substitution G A intron_variant MELA-AU 6 137227534 137227534 single base substitution T A intron_variant MELA-AU 6 137227900 137227900 single base substitution C T intron_variant MELA-AU 6 137228176 137228176 single base substitution C T intron_variant MELA-AU 6 137228216 137228216 single base substitution C T intron_variant MELA-AU 6 137230209 137230209 single base substitution C T intron_variant MELA-AU 6 137230262 137230262 single base substitution C T intron_variant MELA-AU 6 137230430 137230430 single base substitution C T intron_variant MELA-AU 6 137230671 137230671 single base substitution T C intron_variant MELA-AU 6 137232852 137232852 single base substitution C T intron_variant MELA-AU 6 137233013 137233013 single base substitution C T intron_variant MELA-AU 6 137233171 137233171 single base substitution C T intron_variant MELA-AU 6 137233501 137233501 single base substitution T C intron_variant MELA-AU 6 137233623 137233623 single base substitution C T intron_variant MELA-AU 6 137233706 137233706 single base substitution C T intron_variant MELA-AU 6 137234267 137234267 single base substitution C T intron_variant MELA-AU 6 137234470 137234470 single base substitution C T intron_variant MELA-AU 6 137234470 137234471 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 137234781 137234781 single base substitution C T 3_prime_UTR_variant MELA-AU 6 137235250 137235250 single base substitution G A downstream_gene_variant MELA-AU 6 137235383 137235383 single base substitution C T downstream_gene_variant MELA-AU 6 137236637 137236637 single base substitution C G downstream_gene_variant MELA-AU 6 137236638 137236638 single base substitution C T downstream_gene_variant MELA-AU 6 137236748 137236748 single base substitution C T downstream_gene_variant MELA-AU 6 137236791 137236791 single base substitution C T downstream_gene_variant MELA-AU 6 137236860 137236860 single base substitution C T downstream_gene_variant MELA-AU 6 137237191 137237191 single base substitution C T downstream_gene_variant MELA-AU 6 137237279 137237279 single base substitution C T downstream_gene_variant MELA-AU 6 137237322 137237322 single base substitution A G downstream_gene_variant MELA-AU 6 137237333 137237333 single base substitution G A downstream_gene_variant MELA-AU 6 137237374 137237374 single base substitution T C downstream_gene_variant MELA-AU 6 137238017 137238017 single base substitution C T downstream_gene_variant MELA-AU 6 137238160 137238160 single base substitution C T downstream_gene_variant MELA-AU 6 137238303 137238303 single base substitution C T downstream_gene_variant MELA-AU 6 137238640 137238640 single base substitution T A downstream_gene_variant MELA-AU 6 137238744 137238744 single base substitution T C downstream_gene_variant MELA-AU 6 137239057 137239057 single base substitution C T downstream_gene_variant MELA-AU 6 137239244 137239244 single base substitution C T downstream_gene_variant MELA-AU 6 137239711 137239711 single base substitution C T downstream_gene_variant ORCA-IN 6 137184465 137184465 single base substitution C T intron_variant ORCA-IN 6 137187122 137187122 single base substitution G A intron_variant ORCA-IN 6 137198394 137198394 single base substitution C T intron_variant ORCA-IN 6 137217006 137217006 single base substitution G C intron_variant ORCA-IN 6 137219016 137219016 single base substitution C T intron_variant OV-AU 6 137146995 137146995 single base substitution C T intron_variant OV-AU 6 137154331 137154331 single base substitution A G downstream_gene_variant OV-AU 6 137154331 137154331 single base substitution A G intron_variant OV-AU 6 137161340 137161340 single base substitution A G intron_variant OV-AU 6 137169980 137169980 single base substitution G A intron_variant OV-AU 6 137179884 137179884 single base substitution T A intron_variant OV-AU 6 137184507 137184507 single base substitution C A intron_variant OV-AU 6 137185638 137185638 single base substitution G C intron_variant OV-AU 6 137186838 137186838 single base substitution C A intron_variant OV-AU 6 137187567 137187567 single base substitution C T intron_variant OV-AU 6 137187568 137187568 single base substitution G A intron_variant OV-AU 6 137207358 137207358 single base substitution C T intron_variant OV-AU 6 137215045 137215045 single base substitution T G intron_variant OV-AU 6 137221981 137221981 single base substitution C G intron_variant OV-AU 6 137224353 137224353 single base substitution T C intron_variant OV-AU 6 137224356 137224356 single base substitution C A intron_variant OV-AU 6 137229950 137229950 single base substitution T C intron_variant OV-AU 6 137236450 137236450 single base substitution A T downstream_gene_variant OV-AU 6 137239455 137239455 single base substitution C A downstream_gene_variant PACA-AU 6 137139519 137139519 single base substitution G A upstream_gene_variant PACA-AU 6 137140149 137140149 single base substitution G A upstream_gene_variant PACA-AU 6 137146640 137146640 single base substitution C T intron_variant PACA-AU 6 137150914 137150914 insertion of <=200bp - A intron_variant PACA-AU 6 137163703 137163703 single base substitution G C intron_variant PACA-AU 6 137174341 137174341 single base substitution G T intron_variant PACA-AU 6 137178146 137178146 single base substitution G T intron_variant PACA-AU 6 137179168 137179168 single base substitution G A intron_variant PACA-AU 6 137181232 137181232 single base substitution G A intron_variant PACA-AU 6 137183203 137183203 single base substitution T C intron_variant PACA-AU 6 137188993 137188993 single base substitution G C intron_variant PACA-AU 6 137193207 137193207 single base substitution G T intron_variant PACA-AU 6 137193906 137193906 single base substitution C T intron_variant PACA-AU 6 137196987 137196987 single base substitution A G intron_variant PACA-AU 6 137201165 137201165 single base substitution C G intron_variant PACA-AU 6 137216561 137216561 single base substitution G A intron_variant PACA-AU 6 137220685 137220685 single base substitution T A intron_variant PACA-AU 6 137231982 137231982 single base substitution T A intron_variant PACA-AU 6 137232482 137232482 single base substitution C A intron_variant PACA-AU 6 137235242 137235242 single base substitution C G downstream_gene_variant PACA-AU 6 137236757 137236757 single base substitution C G downstream_gene_variant PACA-AU 6 137239058 137239058 single base substitution A T downstream_gene_variant PACA-CA 6 137144553 137144553 single base substitution C T intron_variant PACA-CA 6 137145195 137145195 deletion of <=200bp A - intron_variant PACA-CA 6 137145705 137145705 single base substitution T A intron_variant PACA-CA 6 137147187 137147187 deletion of <=200bp A - intron_variant PACA-CA 6 137147388 137147388 insertion of <=200bp - T intron_variant PACA-CA 6 137149187 137149187 single base substitution A G intron_variant PACA-CA 6 137153534 137153534 single base substitution C A downstream_gene_variant PACA-CA 6 137153534 137153534 single base substitution C A intron_variant PACA-CA 6 137165323 137165323 single base substitution T C intron_variant PACA-CA 6 137166267 137166267 single base substitution T C intron_variant PACA-CA 6 137167068 137167068 single base substitution C T intron_variant PACA-CA 6 137167435 137167437 deletion of <=200bp TTC - intron_variant PACA-CA 6 137169589 137169589 single base substitution C A intron_variant PACA-CA 6 137170741 137170741 single base substitution G A intron_variant PACA-CA 6 137171635 137171635 single base substitution C T intron_variant PACA-CA 6 137178612 137178626 deletion of <=200bp AGTTCCTGCACTCTT - intron_variant PACA-CA 6 137186302 137186302 single base substitution T G intron_variant PACA-CA 6 137189394 137189394 deletion of <=200bp A - intron_variant PACA-CA 6 137189467 137189467 single base substitution G C intron_variant PACA-CA 6 137192599 137192599 single base substitution T C intron_variant PACA-CA 6 137220965 137220965 single base substitution G C intron_variant PACA-CA 6 137224956 137224956 single base substitution A G intron_variant PACA-CA 6 137225267 137225267 single base substitution G T intron_variant PACA-CA 6 137231110 137231110 deletion of <=200bp T - intron_variant PACA-CA 6 137235630 137235630 single base substitution A G downstream_gene_variant PAEN-AU 6 137151855 137151855 single base substitution T A downstream_gene_variant PAEN-AU 6 137151855 137151855 single base substitution T A intron_variant PAEN-AU 6 137189081 137189081 single base substitution A G intron_variant PAEN-AU 6 137196762 137196762 single base substitution C T intron_variant PAEN-AU 6 137221835 137221835 single base substitution G A intron_variant PAEN-IT 6 137141139 137141139 single base substitution G A upstream_gene_variant PAEN-IT 6 137223643 137223643 single base substitution C T intron_variant PBCA-DE 6 137143976 137143976 single base substitution A G intron_variant PBCA-DE 6 137149173 137149173 single base substitution C G intron_variant PBCA-DE 6 137154679 137154679 single base substitution T A downstream_gene_variant PBCA-DE 6 137154679 137154679 single base substitution T A intron_variant PBCA-DE 6 137171323 137171323 insertion of <=200bp - T intron_variant PBCA-DE 6 137171714 137171714 single base substitution A G intron_variant PBCA-DE 6 137186873 137186873 single base substitution G T intron_variant PBCA-DE 6 137186874 137186874 single base substitution C T intron_variant PBCA-DE 6 137187268 137187268 insertion of <=200bp - T intron_variant PBCA-DE 6 137188337 137188337 insertion of <=200bp - CA intron_variant PBCA-DE 6 137193321 137193321 insertion of <=200bp - T intron_variant PBCA-DE 6 137233465 137233465 deletion of <=200bp T - intron_variant PRAD-CA 6 137140246 137140246 single base substitution C T upstream_gene_variant PRAD-CA 6 137140721 137140721 single base substitution T G upstream_gene_variant PRAD-CA 6 137140997 137140997 single base substitution A T upstream_gene_variant PRAD-CA 6 137158268 137158268 single base substitution G A intron_variant PRAD-CA 6 137201619 137201619 single base substitution G T intron_variant PRAD-CA 6 137203477 137203477 single base substitution A G intron_variant PRAD-CA 6 137238247 137238247 single base substitution G A downstream_gene_variant PRAD-CA 6 137239381 137239381 single base substitution T G downstream_gene_variant PRAD-CA 6 137239876 137239876 single base substitution C G downstream_gene_variant PRAD-UK 6 137140023 137140023 single base substitution G T upstream_gene_variant PRAD-UK 6 137154555 137154555 single base substitution C T downstream_gene_variant PRAD-UK 6 137154555 137154555 single base substitution C T intron_variant PRAD-UK 6 137154848 137154848 single base substitution G T downstream_gene_variant PRAD-UK 6 137154848 137154848 single base substitution G T intron_variant PRAD-UK 6 137166352 137166352 single base substitution A G intron_variant PRAD-UK 6 137187867 137187867 single base substitution A G missense_variant N210S 629A>G PRAD-UK 6 137190123 137190123 single base substitution A C intron_variant PRAD-UK 6 137202621 137202621 single base substitution C T intron_variant PRAD-UK 6 137205331 137205331 single base substitution G A intron_variant PRAD-UK 6 137210587 137210587 single base substitution A C intron_variant PRAD-UK 6 137211217 137211217 single base substitution C T intron_variant PRAD-UK 6 137217870 137217870 single base substitution A G intron_variant PRAD-US 6 137191048 137191048 single base substitution G A synonymous_variant A218A 654G>A RECA-EU 6 137140763 137140763 single base substitution T G upstream_gene_variant RECA-EU 6 137155991 137155991 single base substitution G A downstream_gene_variant RECA-EU 6 137155991 137155991 single base substitution G A intron_variant RECA-EU 6 137177110 137177110 single base substitution C T intron_variant RECA-EU 6 137179444 137179444 single base substitution G T intron_variant RECA-EU 6 137180623 137180623 single base substitution G T intron_variant RECA-EU 6 137185086 137185086 single base substitution G C intron_variant RECA-EU 6 137195846 137195846 single base substitution A T intron_variant RECA-EU 6 137203316 137203316 single base substitution T C intron_variant RECA-EU 6 137212457 137212457 single base substitution G C intron_variant RECA-EU 6 137223071 137223071 single base substitution G T intron_variant SKCA-BR 6 137139735 137139735 single base substitution C T upstream_gene_variant SKCA-BR 6 137140077 137140077 single base substitution A C upstream_gene_variant SKCA-BR 6 137140146 137140146 single base substitution G A upstream_gene_variant SKCA-BR 6 137141432 137141432 single base substitution C T upstream_gene_variant SKCA-BR 6 137143980 137143980 insertion of <=200bp - GGGGGCC intron_variant SKCA-BR 6 137146588 137146588 single base substitution C T intron_variant SKCA-BR 6 137150494 137150494 single base substitution G A intron_variant SKCA-BR 6 137158953 137158953 single base substitution C T intron_variant SKCA-BR 6 137162064 137162064 single base substitution C T intron_variant SKCA-BR 6 137164203 137164203 single base substitution C T intron_variant SKCA-BR 6 137170642 137170642 single base substitution C T intron_variant SKCA-BR 6 137172055 137172057 deletion of <=200bp GTT - intron_variant SKCA-BR 6 137173504 137173504 single base substitution A T intron_variant SKCA-BR 6 137173634 137173634 single base substitution A G intron_variant SKCA-BR 6 137173871 137173871 single base substitution G A intron_variant SKCA-BR 6 137181035 137181035 single base substitution T G intron_variant SKCA-BR 6 137181818 137181818 single base substitution G A intron_variant SKCA-BR 6 137183881 137183881 single base substitution G A intron_variant SKCA-BR 6 137183888 137183888 single base substitution C T intron_variant SKCA-BR 6 137187190 137187190 single base substitution C T intron_variant SKCA-BR 6 137193140 137193140 single base substitution C T intron_variant SKCA-BR 6 137195284 137195284 single base substitution C T intron_variant SKCA-BR 6 137196905 137196905 single base substitution C T intron_variant SKCA-BR 6 137199151 137199151 single base substitution C A intron_variant SKCA-BR 6 137203686 137203686 insertion of <=200bp - AAAT intron_variant SKCA-BR 6 137203732 137203732 single base substitution T C intron_variant SKCA-BR 6 137205764 137205770 deletion of <=200bp TTTGAAA - intron_variant SKCA-BR 6 137208851 137208851 single base substitution T C intron_variant SKCA-BR 6 137211597 137211597 single base substitution C T intron_variant SKCA-BR 6 137220218 137220218 insertion of <=200bp - CTT intron_variant SKCA-BR 6 137220218 137220218 single base substitution C T intron_variant SKCA-BR 6 137221589 137221589 single base substitution C G intron_variant SKCA-BR 6 137223992 137223992 single base substitution G A intron_variant SKCA-BR 6 137225133 137225133 single base substitution C T intron_variant SKCA-BR 6 137227057 137227057 single base substitution C T intron_variant SKCA-BR 6 137236107 137236107 single base substitution C T downstream_gene_variant SKCA-BR 6 137239088 137239088 insertion of <=200bp - CAA downstream_gene_variant SKCA-BR 6 137240056 137240056 single base substitution T C downstream_gene_variant SKCM-US 6 137191066 137191066 single base substitution A G synonymous_variant R224R 672A>G SKCM-US 6 137193340 137193340 single base substitution C T 3_prime_UTR_variant SKCM-US 6 137193340 137193340 single base substitution C T missense_variant S251L 752C>T SKCM-US 6 137219309 137219309 single base substitution T A 3_prime_UTR_variant SKCM-US 6 137219309 137219309 single base substitution T A missense_variant L278H 833T>A STAD-US 6 137187764 137187764 single base substitution G A splice_acceptor_variant STAD-US 6 137187777 137187777 single base substitution T C missense_variant L180P 539T>C STAD-US 6 137187813 137187813 single base substitution T A missense_variant I192N 575T>A STAD-US 6 137187842 137187842 single base substitution T G missense_variant L202V 604T>G STAD-US 6 137187847 137187847 single base substitution T C synonymous_variant S203S 609T>C STAD-US 6 137191048 137191048 single base substitution G A synonymous_variant A218A 654G>A THCA-SA 6 137143852 137143852 single base substitution C A missense_variant R17S 49C>A THCA-SA 6 137143875 137143875 single base substitution C A missense_variant F24L 72C>A THCA-US 6 137147485 137147485 single base substitution G A missense_variant V73M 217G>A UCEC-US 6 137147487 137147487 single base substitution G A synonymous_variant V73V 219G>A UCEC-US 6 137166791 137166791 single base substitution G A synonymous_variant Q126Q 378G>A UCEC-US 6 137191098 137191098 single base substitution T C missense_variant V235A 704T>C UCEC-US 6 137193352 137193352 single base substitution C T 3_prime_UTR_variant UCEC-US 6 137193352 137193352 single base substitution C T missense_variant A255V 764C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 587220 COSM1220231 c.775G>A p.A259T Substitution - Missense 6:136872225-136872225 + PTC_431 COSM5957924 c.72C>A p.F24L Substitution - Missense 6:136822737-136822737 + T12 COSM5345034 c.302C>T p.A101V Substitution - Missense 6:136826432-136826432 + PR-04-3347 COSM246549 c.337G>C p.E113Q Substitution - Missense 6:136826467-136826467 + TCGA-AP-A051-01 COSM1073764 c.219G>A p.V73V Substitution - coding silent 6:136826349-136826349 + TCGA-D3-A3BZ-06 COSM3621007 c.833T>A p.L278H Substitution - Missense 6:136898171-136898171 + 587342 COSM1220232 c.558G>T p.K186N Substitution - Missense 6:136866658-136866658 + HCT116 COSM3015499 c.479G>A p.S160N Substitution - Missense 6:136846134-136846134 + TCGA-AP-A059-01 COSM1073765 c.378G>A p.Q126Q Substitution - coding silent 6:136845653-136845653 + ICGC_0048 COSM1159178 c.850C>T p.H284Y Substitution - Missense 6:136898188-136898188 + 587234 COSM1220233 c.653C>T p.A218V Substitution - Missense 6:136869909-136869909 + 2_PRE-TREATMENT COSM1261965 c.576C>T p.I192I Substitution - coding silent 6:136866676-136866676 + PT13 COSM5895864 c.889C>T p.Q297* Substitution - Nonsense 6:136898227-136898227 + SC_9076 COSM5563556 c.903G>C p.Q301H Substitution - Missense 6:136898241-136898241 + C91 COSM4445037 c.241C>T p.H81Y Substitution - Missense 6:136826371-136826371 + B71-Tumor COSM1754544 c.671G>C p.R224T Substitution - Missense 6:136869927-136869927 + YUPROST COSM1698065 c.210G>C p.L70F Substitution - Missense 6:136826340-136826340 + PTC_431 COSM5957937 c.49C>A p.R17S Substitution - Missense 6:136822714-136822714 + TCGA-DJ-A2PW-01 COSM3374068 c.217G>A p.V73M Substitution - Missense 6:136826347-136826347 + MO_1012 COSM5547991 c.188+5delG p.? Unknown 6:136825276-136825276 + S02289 COSM5686183 c.497A>T p.H166L Substitution - Missense 6:136846152-136846152 + TCGA-AS-3778-01 COSM1496197 c.459C>A p.G153G Substitution - coding silent 6:136846114-136846114 + JEKO-1 COSM1739263 c.265G>A p.D89N Substitution - Missense 6:136826395-136826395 + ESCC_72 COSM5634398 c.543A>G p.R181R Substitution - coding silent 6:136866643-136866643 + 520 COSM5611536 c.686_687GG>CT p.R229T Substitution - Missense 6:136869942-136869943 + TCGA-D1-A15X-01 COSM1073766 c.704T>C p.V235A Substitution - Missense 6:136869960-136869960 + 8014741 COSM1159178 c.850C>T p.H284Y Substitution - Missense 6:136898188-136898188 + pfg020T COSM1642876 c.606G>A p.L202L Substitution - coding silent 6:136866706-136866706 + TCGA-BR-8059-01 COSM3858531 c.539T>C p.L180P Substitution - Missense 6:136866639-136866639 + TCGA-HU-A4H8-01 COSM3858535 c.654G>A p.A218A Substitution - coding silent 6:136869910-136869910 + TCGA-BR-6452-01 COSM3858532 c.575T>A p.I192N Substitution - Missense 6:136866675-136866675 + TCGA-EE-A181-06 COSM3621006 c.672A>G p.R224R Substitution - coding silent 6:136869928-136869928 + PTC-28C COSM4160219 c.634A>T p.N212Y Substitution - Missense 6:136869890-136869890 + TCGA-ER-A19S-06 COSM3920786 c.752C>T p.S251L Substitution - Missense 6:136872202-136872202 + T578 COSM4713680 c.939C>A p.I313I Substitution - coding silent 6:136913493-136913493 + TCGA-BR-4184-01 COSM3858534 c.609T>C p.S203S Substitution - coding silent 6:136866709-136866709 + ESCC_62 COSM5633192 c.943G>C p.D315H Substitution - Missense 6:136913497-136913497 + TCGA-AZ-6598-01 COSM1440685 c.259A>G p.S87G Substitution - Missense 6:136826389-136826389 + S02342 COSM5647708 c.971G>C p.*324S Nonstop extension 6:136913525-136913525 + SC_9010 COSM5561584 c.424C>G p.P142A Substitution - Missense 6:136846079-136846079 + CAL27 COSM3015512 c.925G>A p.E309K Substitution - Missense 6:136913479-136913479 + TCGA-34-5927-01 COSM739944 c.631G>C p.E211Q Substitution - Missense 6:136866731-136866731 + ESO-1670 COSM1261965 c.576C>T p.I192I Substitution - coding silent 6:136866676-136866676 + TCGA-E2-A56Z-01 COSM3829139 c.674G>T p.G225V Substitution - Missense 6:136869930-136869930 + TCGA-J9-A52C-01 COSM3858535 c.654G>A p.A218A Substitution - coding silent 6:136869910-136869910 + TCGA-85-6560-01 COSM739943 c.828C>G p.D276E Substitution - Missense 6:136898166-136898166 + pfg016T COSM1642877 c.828_829delCT p.L278fs*2 Deletion - Frameshift 6:136898166-136898167 + TCGA-D8-A1XC-01 COSM1487258 c.243T>G p.H81Q Substitution - Missense 6:136826373-136826373 + TCGA-DK-A3IU-01 COSM3777140 c.486C>G p.I162M Substitution - Missense 6:136846141-136846141 + B71 COSM1754544 c.671G>C p.R224T Substitution - Missense 6:136869927-136869927 + CSCC-62-T COSM4494940 c.442C>T p.L148L Substitution - coding silent 6:136846097-136846097 + TCGA-A3-3374-01 COSM1496196 c.649G>A p.G217R Substitution - Missense 6:136869905-136869905 + TCGA-B6-A0WW-01 COSM450577 c.272C>G p.S91W Substitution - Missense 6:136826402-136826402 + CSCC-27-T COSM4511848 c.882C>T p.F294F Substitution - coding silent 6:136898220-136898220 + I2L-P7-Tumor-Organoid COSM5357721 c.264C>T p.G88G Substitution - coding silent 6:136826394-136826394 + TCGA-BR-6452-01 COSM3858530 c.527-1G>A p.? Unknown 6:136866626-136866626 + TCGA-HU-A4GH-01 COSM3858533 c.604T>G p.L202V Substitution - Missense 6:136866704-136866704 + TCGA-BS-A0UV-01 COSM1073767 c.764C>T p.A255V Substitution - Missense 6:136872214-136872214 + ESCC_161 COSM5647708 c.971G>C p.*324S Nonstop extension 6:136913525-136913525 + TCGA-B0-5098-01 COSM1496195 c.727T>C p.Y243H Substitution - Missense 6:136869983-136869983 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.280924;Hs.280932 6q23.3 601757

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.R224R c.672A>G 6 137191066 CM C G Missense p.D276E c.828C>G 6 137219304 LUSC C G Missense p.I162M c.486C>G 6 137167279 BLCA C G Missense p.L239V c.715C>G 6 137191109 LUAD C G Missense p.S91W c.272C>G 6 137147540 BRCA CT - Frameshift p.L278Sfs*2 c.832_833delCT 6 137219304 STAD C T Missense p.H284Y c.850C>T 6 137219326 PAAD C T Missense p.S251L c.752C>T 6 137193340 CM C T Synonymous p.I192I c.576C>T 6 137187814 ESCA G A Missense p.V73M c.217G>A 6 137147485 THCA G A Synonymous p.L202L c.606G>A 6 137187844 STAD G C Missense p.E211Q c.631G>C 6 137187869 LUSC GTGTC - IntronicDeletion . c.339+1077_339+1081delGTGTC 6 137148684 CLL T A 3-UTRSNV . c.969+88T>A 6 137234749 CM T A Missense p.L278H c.833T>A 6 137219309 CM T C IntronicSNV . c.527-2222T>C 6 137185543 CLL T G Missense p.H81Q c.243T>G 6 137147511 BRCA