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 ACC 14 45403706 45403706 + Missense_Mutation SNP T T C TCGA-OR-A5JX-01A-11D-A29I-10 TCGA-OR-A5JX-10B-01D-A29L-10 g.chr14:45403706T>C c.955A>G c.(955-957)Att>Gtt p.I319V BLCA 14 45398298 45398298 + Missense_Mutation SNP G G A TCGA-ZF-AA4T-01A-11D-A38G-08 TCGA-ZF-AA4T-10A-01D-A38J-08 g.chr14:45398298G>A c.1649C>T c.(1648-1650)tCa>tTa p.S550L BLCA 14 45400552 45400552 + Missense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr14:45400552C>A c.1536G>T c.(1534-1536)atG>atT p.M512I BLCA 14 45403742 45403742 + Missense_Mutation SNP G G C TCGA-GU-A767-01A-11D-A32B-08 TCGA-GU-A767-10A-01D-A329-08 g.chr14:45403742G>C c.919C>G c.(919-921)Cag>Gag p.Q307E BLCA 14 45414324 45414324 + Missense_Mutation SNP G G C TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr14:45414324G>C c.808C>G c.(808-810)Cat>Gat p.H270D BLCA 14 45414370 45414370 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr14:45414370C>T c.762G>A c.(760-762)ttG>ttA p.L254L BLCA 14 45414407 45414407 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr14:45414407T>C c.725A>G c.(724-726)cAt>cGt p.H242R BLCA 14 45414609 45414609 + Missense_Mutation SNP C C G TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr14:45414609C>G c.523G>C c.(523-525)Gag>Cag p.E175Q BRCA 14 45414398 45414398 + Missense_Mutation SNP C C T TCGA-AO-A03O-01A-11W-A019-09 TCGA-AO-A03O-10A-01W-A021-09 g.chr14:45414398C>T c.734G>A c.(733-735)cGt>cAt p.R245H CESC 14 45398273 45398273 + Silent SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 g.chr14:45398273G>T c.1674C>A c.(1672-1674)ggC>ggA p.G558G CESC 14 45403317 45403317 + Splice_Site SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr14:45403317C>A c.e3+1 CESC 14 45414681 45414681 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr14:45414681C>T c.451G>A c.(451-453)Gac>Aac p.D151N COAD 14 45403393 45403393 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:45403393C>A c.1268G>T c.(1267-1269)aGa>aTa p.R423I COAD 14 45403535 45403535 + Nonsense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr14:45403535G>A c.1126C>T c.(1126-1128)Cga>Tga p.R376* COAD 14 45403558 45403558 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:45403558G>T c.1103C>A c.(1102-1104)tCt>tAt p.S368Y COAD 14 45414458 45414458 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr14:45414458C>T c.674G>A c.(673-675)cGa>cAa p.R225Q COAD 14 45414534 45414534 + Frame_Shift_Del DEL A A - TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr14:45414534delA c.598delT c.(598-600)tatfs p.Y200fs COAD 14 45415046 45415046 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr14:45415046C>T c.86G>A c.(85-87)cGc>cAc p.R29H COADREAD 14 45403393 45403393 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:45403393C>A c.1268G>T c.(1267-1269)aGa>aTa p.R423I COADREAD 14 45403535 45403535 + Nonsense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr14:45403535G>A c.1126C>T c.(1126-1128)Cga>Tga p.R376* COADREAD 14 45403558 45403558 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:45403558G>T c.1103C>A c.(1102-1104)tCt>tAt p.S368Y COADREAD 14 45414458 45414458 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr14:45414458C>T c.674G>A c.(673-675)cGa>cAa p.R225Q COADREAD 14 45414534 45414534 + Frame_Shift_Del DEL A A - TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr14:45414534delA c.598delT c.(598-600)tatfs p.Y200fs COADREAD 14 45414750 45414750 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:45414750G>T c.382C>A c.(382-384)Ctt>Att p.L128I COADREAD 14 45415046 45415046 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr14:45415046C>T c.86G>A c.(85-87)cGc>cAc p.R29H DLBC 14 45403616 45403616 + Missense_Mutation SNP T T C TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr14:45403616T>C c.1045A>G c.(1045-1047)Atc>Gtc p.I349V ESCA 14 45400541 45400541 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 g.chr14:45400541C>A c.1547G>T c.(1546-1548)aGa>aTa p.R516I ESCA 14 45400591 45400591 + Silent SNP G G A TCGA-R6-A8W5-01B-11D-A37C-09 TCGA-R6-A8W5-10A-01D-A37F-09 g.chr14:45400591G>A c.1497C>T c.(1495-1497)taC>taT p.Y499Y ESCA 14 45400680 45400680 + Missense_Mutation SNP T T A TCGA-LN-A49U-01A-31D-A27G-09 TCGA-LN-A49U-10A-01D-A27G-09 g.chr14:45400680T>A c.1408A>T c.(1408-1410)Att>Ttt p.I470F ESCA 14 45403680 45403680 + Nonsense_Mutation SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr14:45403680G>T c.981C>A c.(979-981)tgC>tgA p.C327* ESCA 14 45415050 45415050 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 g.chr14:45415050G>A c.82C>T c.(82-84)Ctt>Ttt p.L28F GBM 14 45415013 45415013 + Missense_Mutation SNP C C A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 g.chr14:45415013C>A c.119G>T c.(118-120)cGa>cTa p.R40L GBMLGG 14 45400708 45400708 + Missense_Mutation SNP C C A TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 g.chr14:45400708C>A c.1380G>T c.(1378-1380)gaG>gaT p.E460D GBMLGG 14 45403339 45403339 + Missense_Mutation SNP T T C TCGA-DU-A5TR-01A-11D-A289-08 TCGA-DU-A5TR-10A-01D-A289-08 g.chr14:45403339T>C c.1322A>G c.(1321-1323)tAt>tGt p.Y441C GBMLGG 14 45403686 45403686 + Silent SNP T T C TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 g.chr14:45403686T>C c.975A>G c.(973-975)ggA>ggG p.G325G GBMLGG 14 45415013 45415013 + Missense_Mutation SNP C C A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 g.chr14:45415013C>A c.119G>T c.(118-120)cGa>cTa p.R40L GBMLGG 14 45415078 45415078 + Frame_Shift_Del DEL A A - TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 g.chr14:45415078delA c.54delT c.(52-54)tctfs p.S18fs HNSC 14 45403630 45403630 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 g.chr14:45403630C>A c.1031G>T c.(1030-1032)cGt>cTt p.R344L HNSC 14 45414307 45414307 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 g.chr14:45414307C>T c.825G>A c.(823-825)atG>atA p.M275I HNSC 14 45414609 45414609 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr14:45414609C>G c.523G>C c.(523-525)Gag>Cag p.E175Q HNSC 14 45414972 45414973 + Frame_Shift_Ins INS - - A TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr14:45414972_45414973insA c.159_160insT c.(157-162)cttgccfs p.A54fs LGG 14 45400708 45400708 + Missense_Mutation SNP C C A TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 g.chr14:45400708C>A c.1380G>T c.(1378-1380)gaG>gaT p.E460D LGG 14 45403339 45403339 + Missense_Mutation SNP T T C TCGA-DU-A5TR-01A-11D-A289-08 TCGA-DU-A5TR-10A-01D-A289-08 g.chr14:45403339T>C c.1322A>G c.(1321-1323)tAt>tGt p.Y441C LGG 14 45403686 45403686 + Silent SNP T T C TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 g.chr14:45403686T>C c.975A>G c.(973-975)ggA>ggG p.G325G LGG 14 45415078 45415078 + Frame_Shift_Del DEL A A - TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 g.chr14:45415078delA c.54delT c.(52-54)tctfs p.S18fs LIHC 14 45403543 45403543 + Missense_Mutation SNP T T C TCGA-DD-AAW0-01A-11D-A40R-10 TCGA-DD-AAW0-10A-01D-A40U-10 g.chr14:45403543T>C c.1118A>G c.(1117-1119)aAt>aGt p.N373S LIHC 14 45414503 45414503 + Missense_Mutation SNP A A T TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr14:45414503A>T c.629T>A c.(628-630)gTa>gAa p.V210E LIHC 14 45414552 45414552 + Missense_Mutation SNP T T A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr14:45414552T>A c.580A>T c.(580-582)Acc>Tcc p.T194S LIHC 14 45414969 45414969 + Missense_Mutation SNP T T C TCGA-DD-A39X-01A-11D-A20W-10 TCGA-DD-A39X-11A-11D-A20W-10 g.chr14:45414969T>C c.163A>G c.(163-165)Agc>Ggc p.S55G LUAD 14 45398320 45398320 + Missense_Mutation SNP C C A TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr14:45398320C>A c.1627G>T c.(1627-1629)Gtg>Ttg p.V543L LUAD 14 45398340 45398340 + Missense_Mutation SNP C C A TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr14:45398340C>A c.1607G>T c.(1606-1608)gGg>gTg p.G536V LUAD 14 45400639 45400639 + Silent SNP C C A TCGA-17-Z016-01A-01W-0746-08 TCGA-17-Z016-11A-01W-0746-08 g.chr14:45400639C>A c.1449G>T c.(1447-1449)gtG>gtT p.V483V LUAD 14 45414261 45414261 + Nonsense_Mutation SNP T T A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr14:45414261T>A c.871A>T c.(871-873)Aaa>Taa p.K291* LUAD 14 45414728 45414728 + Frame_Shift_Del DEL C C - TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 g.chr14:45414728delC c.404delG c.(403-405)ggtfs p.G135fs LUAD 14 45414803 45414803 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 g.chr14:45414803G>A c.329C>T c.(328-330)cCa>cTa p.P110L LUAD 14 45414807 45414807 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 g.chr14:45414807G>A c.325C>T c.(325-327)Ctg>Ttg p.L109L LUAD 14 45414812 45414812 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 g.chr14:45414812G>A c.320C>T c.(319-321)tCt>tTt p.S107F LUAD 14 45415021 45415021 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 g.chr14:45415021G>A c.111C>T c.(109-111)atC>atT p.I37I LUAD 14 45415050 45415050 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr14:45415050G>C c.82C>G c.(82-84)Ctt>Gtt p.L28V LUAD 14 45415118 45415118 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 g.chr14:45415118G>A c.14C>T c.(13-15)tCc>tTc p.S5F LUAD 14 45415125 45415125 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 g.chr14:45415125G>A c.7C>T c.(7-9)Cac>Tac p.H3Y LUSC 14 45400541 45400541 + Missense_Mutation SNP C C G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 g.chr14:45400541C>G c.1547G>C c.(1546-1548)aGa>aCa p.R516T LUSC 14 45400680 45400680 + Missense_Mutation SNP T T C TCGA-66-2763-01A-01D-1522-08 TCGA-66-2763-11A-01D-1522-08 g.chr14:45400680T>C c.1408A>G c.(1408-1410)Att>Gtt p.I470V LUSC 14 45403624 45403624 + Missense_Mutation SNP C C G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 g.chr14:45403624C>G c.1037G>C c.(1036-1038)gGc>gCc p.G346A LUSC 14 45414769 45414769 + Silent SNP C C A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 g.chr14:45414769C>A c.363G>T c.(361-363)ctG>ctT p.L121L LUSC 14 45414864 45414864 + Missense_Mutation SNP C C A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 g.chr14:45414864C>A c.268G>T c.(268-270)Gtg>Ttg p.V90L PRAD 14 45403573 45403573 + Missense_Mutation SNP G G T TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 g.chr14:45403573G>T c.1088C>A c.(1087-1089)aCa>aAa p.T363K PRAD 14 45403751 45403751 + Missense_Mutation SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr14:45403751A>G c.910T>C c.(910-912)Tac>Cac p.Y304H READ 14 45414750 45414750 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:45414750G>T c.382C>A c.(382-384)Ctt>Att p.L128I SARC 14 45414684 45414684 + Missense_Mutation SNP G G A TCGA-RN-AAAQ-01A-21D-A38Z-09 TCGA-RN-AAAQ-10A-01D-A38Z-09 g.chr14:45414684G>A c.448C>T c.(448-450)Cgt>Tgt p.R150C SKCM 14 45403424 45403424 + Missense_Mutation SNP A A C TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 g.chr14:45403424A>C c.1237T>G c.(1237-1239)Tgg>Ggg p.W413G

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 14 45432234 45432234 single base substitution C T downstream_gene_variant BLCA-CN 14 45432234 45432234 single base substitution C T intron_variant BLCA-CN 14 45432234 45432234 single base substitution C T upstream_gene_variant BLCA-CN 14 45432533 45432533 single base substitution G A downstream_gene_variant BLCA-CN 14 45432533 45432533 single base substitution G A intron_variant BLCA-CN 14 45432533 45432533 single base substitution G A upstream_gene_variant BLCA-CN 14 45432923 45432923 single base substitution G A downstream_gene_variant BLCA-CN 14 45432923 45432923 single base substitution G A intron_variant BLCA-CN 14 45432923 45432923 single base substitution G A upstream_gene_variant BLCA-CN 14 45497428 45497428 single base substitution G A intron_variant BLCA-CN 14 45497433 45497433 single base substitution G A intron_variant BLCA-CN 14 45497471 45497471 single base substitution G C intron_variant BLCA-US 14 45414370 45414370 single base substitution C T downstream_gene_variant BLCA-US 14 45414370 45414370 single base substitution C T synonymous_variant L254L 762G>A BLCA-US 14 45414370 45414370 single base substitution C T synonymous_variant L268L 804G>A BLCA-US 14 45414407 45414407 single base substitution T C downstream_gene_variant BLCA-US 14 45414407 45414407 single base substitution T C missense_variant H242R 725A>G BLCA-US 14 45414407 45414407 single base substitution T C missense_variant H256R 767A>G BLCA-US 14 45431955 45431955 single base substitution G A downstream_gene_variant BLCA-US 14 45431955 45431955 single base substitution G A intron_variant BLCA-US 14 45431955 45431955 single base substitution G A upstream_gene_variant BLCA-US 14 45432049 45432049 single base substitution G C downstream_gene_variant BLCA-US 14 45432049 45432049 single base substitution G C intron_variant BLCA-US 14 45432049 45432049 single base substitution G C upstream_gene_variant BLCA-US 14 45432303 45432303 single base substitution G C downstream_gene_variant BLCA-US 14 45432303 45432303 single base substitution G C intron_variant BLCA-US 14 45432303 45432303 single base substitution G C upstream_gene_variant BLCA-US 14 45432544 45432544 single base substitution A G downstream_gene_variant BLCA-US 14 45432544 45432544 single base substitution A G intron_variant BLCA-US 14 45432544 45432544 single base substitution A G upstream_gene_variant BLCA-US 14 45433339 45433339 single base substitution G A intron_variant BLCA-US 14 45433339 45433339 single base substitution G A upstream_gene_variant BLCA-US 14 45433564 45433564 single base substitution G A intron_variant BLCA-US 14 45433564 45433564 single base substitution G A upstream_gene_variant BLCA-US 14 45468596 45468596 single base substitution C G intron_variant BLCA-US 14 45478126 45478126 single base substitution C G intron_variant BOCA-FR 14 45480166 45480166 single base substitution C G intron_variant BRCA-EU 14 45388647 45388647 single base substitution C G downstream_gene_variant BRCA-EU 14 45389265 45389265 single base substitution C G downstream_gene_variant BRCA-EU 14 45389708 45389708 single base substitution C G downstream_gene_variant BRCA-EU 14 45389985 45389985 deletion of <=200bp A - downstream_gene_variant BRCA-EU 14 45389992 45389992 single base substitution G A downstream_gene_variant BRCA-EU 14 45391023 45391024 deletion of <=200bp AA - downstream_gene_variant BRCA-EU 14 45391186 45391186 single base substitution C G downstream_gene_variant BRCA-EU 14 45391834 45391834 single base substitution G T downstream_gene_variant BRCA-EU 14 45391936 45391936 single base substitution G A downstream_gene_variant BRCA-EU 14 45392152 45392152 single base substitution C T downstream_gene_variant BRCA-EU 14 45396551 45396551 single base substitution A G 3_prime_UTR_variant BRCA-EU 14 45396551 45396551 single base substitution A G downstream_gene_variant BRCA-EU 14 45397646 45397646 single base substitution T C 3_prime_UTR_variant BRCA-EU 14 45397646 45397646 single base substitution T C downstream_gene_variant BRCA-EU 14 45398057 45398057 single base substitution A C 3_prime_UTR_variant BRCA-EU 14 45398522 45398522 single base substitution A C intron_variant BRCA-EU 14 45401859 45401859 single base substitution G T intron_variant BRCA-EU 14 45402120 45402120 single base substitution G A intron_variant BRCA-EU 14 45403421 45403421 single base substitution G A stop_gained Q414* 1240C>T BRCA-EU 14 45403421 45403421 single base substitution G A stop_gained Q428* 1282C>T BRCA-EU 14 45404321 45404321 single base substitution C T intron_variant BRCA-EU 14 45406331 45406331 insertion of <=200bp - T intron_variant BRCA-EU 14 45407923 45407923 single base substitution C T intron_variant BRCA-EU 14 45408814 45408814 single base substitution C T intron_variant BRCA-EU 14 45411465 45411465 single base substitution C G downstream_gene_variant BRCA-EU 14 45411465 45411465 single base substitution C G intron_variant BRCA-EU 14 45411738 45411738 single base substitution T C downstream_gene_variant BRCA-EU 14 45411738 45411738 single base substitution T C intron_variant BRCA-EU 14 45412179 45412179 single base substitution C T downstream_gene_variant BRCA-EU 14 45412179 45412179 single base substitution C T intron_variant BRCA-EU 14 45412918 45412918 single base substitution G A downstream_gene_variant BRCA-EU 14 45412918 45412918 single base substitution G A intron_variant BRCA-EU 14 45413075 45413075 single base substitution T A downstream_gene_variant BRCA-EU 14 45413075 45413075 single base substitution T A intron_variant BRCA-EU 14 45414159 45414159 single base substitution A T downstream_gene_variant BRCA-EU 14 45414159 45414159 single base substitution A T intron_variant BRCA-EU 14 45416562 45416562 single base substitution C G intron_variant BRCA-EU 14 45416933 45416933 single base substitution C G intron_variant BRCA-EU 14 45418257 45418257 single base substitution C T intron_variant BRCA-EU 14 45419248 45419248 single base substitution G T intron_variant BRCA-EU 14 45419306 45419306 single base substitution C G intron_variant BRCA-EU 14 45419927 45419927 single base substitution G C intron_variant BRCA-EU 14 45422275 45422275 single base substitution G A intron_variant BRCA-EU 14 45422996 45422996 single base substitution C T intron_variant BRCA-EU 14 45423106 45423106 single base substitution G T intron_variant BRCA-EU 14 45425062 45425062 single base substitution C A intron_variant BRCA-EU 14 45427453 45427453 single base substitution G C intron_variant BRCA-EU 14 45427464 45427464 single base substitution C A intron_variant BRCA-EU 14 45427900 45427900 single base substitution C T intron_variant BRCA-EU 14 45428698 45428698 single base substitution C T 5_prime_UTR_variant BRCA-EU 14 45428698 45428698 single base substitution C T downstream_gene_variant BRCA-EU 14 45428698 45428698 single base substitution C T intron_variant BRCA-EU 14 45429123 45429123 deletion of <=200bp A - downstream_gene_variant BRCA-EU 14 45429123 45429123 deletion of <=200bp A - intron_variant BRCA-EU 14 45429615 45429615 single base substitution G C downstream_gene_variant BRCA-EU 14 45429615 45429615 single base substitution G C intron_variant BRCA-EU 14 45429654 45429654 single base substitution G A downstream_gene_variant BRCA-EU 14 45429654 45429654 single base substitution G A intron_variant BRCA-EU 14 45430106 45430106 single base substitution T C downstream_gene_variant BRCA-EU 14 45430106 45430106 single base substitution T C intron_variant BRCA-EU 14 45430106 45430106 single base substitution T C missense_variant Y9C 26A>G BRCA-EU 14 45430116 45430116 single base substitution T C downstream_gene_variant BRCA-EU 14 45430116 45430116 single base substitution T C intron_variant BRCA-EU 14 45430116 45430116 single base substitution T C missense_variant K6E 16A>G BRCA-EU 14 45430824 45430824 single base substitution C T 5_prime_UTR_variant BRCA-EU 14 45430824 45430824 single base substitution C T downstream_gene_variant BRCA-EU 14 45430824 45430824 single base substitution C T intron_variant BRCA-EU 14 45430824 45430824 single base substitution C T upstream_gene_variant BRCA-EU 14 45432626 45432626 single base substitution C T downstream_gene_variant BRCA-EU 14 45432626 45432626 single base substitution C T intron_variant BRCA-EU 14 45432626 45432626 single base substitution C T upstream_gene_variant BRCA-EU 14 45433853 45433853 single base substitution G A intron_variant BRCA-EU 14 45433853 45433853 single base substitution G A upstream_gene_variant BRCA-EU 14 45434086 45434086 single base substitution G C intron_variant BRCA-EU 14 45434086 45434086 single base substitution G C upstream_gene_variant BRCA-EU 14 45434287 45434287 single base substitution A G intron_variant BRCA-EU 14 45434287 45434287 single base substitution A G upstream_gene_variant BRCA-EU 14 45436051 45436051 single base substitution C T intron_variant BRCA-EU 14 45436051 45436051 single base substitution C T upstream_gene_variant BRCA-EU 14 45437553 45437553 single base substitution C G intron_variant BRCA-EU 14 45438956 45438956 deletion of <=200bp T - intron_variant BRCA-EU 14 45439405 45439405 single base substitution T A intron_variant BRCA-EU 14 45440275 45440275 single base substitution T C intron_variant BRCA-EU 14 45441061 45441062 deletion of <=200bp TC - intron_variant BRCA-EU 14 45441217 45441217 single base substitution G A intron_variant BRCA-EU 14 45442384 45442384 single base substitution G T intron_variant BRCA-EU 14 45442461 45442461 deletion of <=200bp T - intron_variant BRCA-EU 14 45442461 45442461 insertion of <=200bp - T intron_variant BRCA-EU 14 45443144 45443144 single base substitution G T intron_variant BRCA-EU 14 45443399 45443399 deletion of <=200bp T - intron_variant BRCA-EU 14 45444030 45444030 single base substitution G A intron_variant BRCA-EU 14 45444447 45444447 insertion of <=200bp - C intron_variant BRCA-EU 14 45445570 45445570 single base substitution C T intron_variant BRCA-EU 14 45446325 45446325 single base substitution A G intron_variant BRCA-EU 14 45447220 45447220 single base substitution C G intron_variant BRCA-EU 14 45447516 45447516 deletion of <=200bp A - intron_variant BRCA-EU 14 45448178 45448178 single base substitution T C intron_variant BRCA-EU 14 45449263 45449263 single base substitution C G intron_variant BRCA-EU 14 45449422 45449422 single base substitution A C intron_variant BRCA-EU 14 45454525 45454525 single base substitution T G intron_variant BRCA-EU 14 45454703 45454703 single base substitution C G intron_variant BRCA-EU 14 45454716 45454716 single base substitution C G intron_variant BRCA-EU 14 45455176 45455176 single base substitution C T intron_variant BRCA-EU 14 45455805 45455805 single base substitution T G intron_variant BRCA-EU 14 45456266 45456266 single base substitution G C intron_variant BRCA-EU 14 45456389 45456389 single base substitution G A intron_variant BRCA-EU 14 45456506 45456506 single base substitution A G intron_variant BRCA-EU 14 45456963 45456963 single base substitution T A intron_variant BRCA-EU 14 45457954 45457954 single base substitution A T intron_variant BRCA-EU 14 45458813 45458813 single base substitution C G intron_variant BRCA-EU 14 45460944 45460944 single base substitution T A intron_variant BRCA-EU 14 45461552 45461552 single base substitution G C intron_variant BRCA-EU 14 45464039 45464039 single base substitution A G intron_variant BRCA-EU 14 45464299 45464299 single base substitution A G intron_variant BRCA-EU 14 45465775 45465775 single base substitution G A intron_variant BRCA-EU 14 45467902 45467902 single base substitution G T intron_variant BRCA-EU 14 45467999 45467999 deletion of <=200bp T - intron_variant BRCA-EU 14 45468266 45468308 deletion of <=200bp CTGGAGAAACGTTCCATGCTGAGAGAAAGAGTGTAGGAAGAAA - intron_variant BRCA-EU 14 45469220 45469220 single base substitution G T intron_variant BRCA-EU 14 45470815 45470815 single base substitution C G intron_variant BRCA-EU 14 45472182 45472182 insertion of <=200bp - AA intron_variant BRCA-EU 14 45473823 45473823 single base substitution G T intron_variant BRCA-EU 14 45473991 45473991 single base substitution A G intron_variant BRCA-EU 14 45474279 45474279 single base substitution C T intron_variant BRCA-EU 14 45475161 45475161 single base substitution C G intron_variant BRCA-EU 14 45475430 45475430 single base substitution C T intron_variant BRCA-EU 14 45475891 45475891 single base substitution T C intron_variant BRCA-EU 14 45478248 45478248 single base substitution T A intron_variant BRCA-EU 14 45478759 45478759 single base substitution C G intron_variant BRCA-EU 14 45479505 45479505 single base substitution G C intron_variant BRCA-EU 14 45480891 45480891 single base substitution C T intron_variant BRCA-EU 14 45482923 45482923 single base substitution G C intron_variant BRCA-EU 14 45483911 45483911 single base substitution G C intron_variant BRCA-EU 14 45487876 45487876 single base substitution C T intron_variant BRCA-EU 14 45487912 45487912 single base substitution C T intron_variant BRCA-EU 14 45488745 45488745 single base substitution C G intron_variant BRCA-EU 14 45488755 45488755 single base substitution A G intron_variant BRCA-EU 14 45491089 45491089 single base substitution C G intron_variant BRCA-EU 14 45491865 45491865 single base substitution C G intron_variant BRCA-EU 14 45493591 45493591 single base substitution C T intron_variant BRCA-EU 14 45494300 45494300 single base substitution C T intron_variant BRCA-EU 14 45495244 45495244 single base substitution C T intron_variant BRCA-EU 14 45495256 45495256 single base substitution C T intron_variant BRCA-EU 14 45495459 45495462 deletion of <=200bp AATT - intron_variant BRCA-EU 14 45497567 45497567 single base substitution C G intron_variant BRCA-EU 14 45498711 45498711 single base substitution A G intron_variant BRCA-EU 14 45499339 45499339 single base substitution A T intron_variant BRCA-EU 14 45504802 45504802 single base substitution G C intron_variant BRCA-EU 14 45504874 45504874 single base substitution G A intron_variant BRCA-EU 14 45505723 45505723 single base substitution A C intron_variant BRCA-EU 14 45506361 45506361 single base substitution G T intron_variant BRCA-EU 14 45506431 45506431 single base substitution C T intron_variant BRCA-EU 14 45507526 45507526 single base substitution C G intron_variant BRCA-EU 14 45508939 45508939 single base substitution G T intron_variant BRCA-EU 14 45509161 45509161 single base substitution C T intron_variant BRCA-EU 14 45510983 45510983 single base substitution G C intron_variant BRCA-EU 14 45512149 45512149 single base substitution G C upstream_gene_variant BRCA-EU 14 45513213 45513213 single base substitution T C upstream_gene_variant BRCA-EU 14 45514100 45514100 single base substitution T A upstream_gene_variant BRCA-EU 14 45515639 45515639 insertion of <=200bp - A upstream_gene_variant BRCA-FR 14 45396971 45396971 single base substitution G C 3_prime_UTR_variant BRCA-FR 14 45396971 45396971 single base substitution G C downstream_gene_variant BRCA-FR 14 45398057 45398057 single base substitution A C 3_prime_UTR_variant BRCA-FR 14 45404321 45404321 single base substitution C T intron_variant BRCA-FR 14 45408814 45408814 single base substitution C T intron_variant BRCA-FR 14 45411201 45411201 single base substitution A T downstream_gene_variant BRCA-FR 14 45411201 45411201 single base substitution A T intron_variant BRCA-FR 14 45411465 45411465 single base substitution C G downstream_gene_variant BRCA-FR 14 45411465 45411465 single base substitution C G intron_variant BRCA-FR 14 45418219 45418219 single base substitution A C intron_variant BRCA-FR 14 45419766 45419766 single base substitution T C intron_variant BRCA-FR 14 45427900 45427900 single base substitution C T intron_variant BRCA-FR 14 45428698 45428698 single base substitution C T 5_prime_UTR_variant BRCA-FR 14 45428698 45428698 single base substitution C T downstream_gene_variant BRCA-FR 14 45428698 45428698 single base substitution C T intron_variant BRCA-FR 14 45429920 45429920 single base substitution C T downstream_gene_variant BRCA-FR 14 45429920 45429920 single base substitution C T intron_variant BRCA-FR 14 45437553 45437553 single base substitution C G intron_variant BRCA-FR 14 45447532 45447532 single base substitution C A intron_variant BRCA-FR 14 45461552 45461552 single base substitution G C intron_variant BRCA-FR 14 45465775 45465775 single base substitution G A intron_variant BRCA-FR 14 45469220 45469220 single base substitution G T intron_variant BRCA-FR 14 45488066 45488066 single base substitution C A intron_variant BRCA-FR 14 45507526 45507526 single base substitution C G intron_variant BRCA-FR 14 45510983 45510983 single base substitution G C intron_variant BRCA-FR 14 45512149 45512149 single base substitution G C upstream_gene_variant BRCA-UK 14 45414470 45414470 single base substitution A T downstream_gene_variant BRCA-UK 14 45414470 45414470 single base substitution A T missense_variant L221Q 662T>A BRCA-UK 14 45414470 45414470 single base substitution A T missense_variant L235Q 704T>A BRCA-UK 14 45449263 45449263 single base substitution C G intron_variant BRCA-UK 14 45480589 45480589 single base substitution C G intron_variant BRCA-UK 14 45482840 45482840 single base substitution G T intron_variant BRCA-UK 14 45515614 45515614 single base substitution C G upstream_gene_variant BRCA-US 14 45414398 45414398 single base substitution C T downstream_gene_variant BRCA-US 14 45414398 45414398 single base substitution C T missense_variant R245H 734G>A BRCA-US 14 45414398 45414398 single base substitution C T missense_variant R259H 776G>A BRCA-US 14 45431733 45431733 single base substitution C T downstream_gene_variant BRCA-US 14 45431733 45431733 single base substitution C T intron_variant BRCA-US 14 45431733 45431733 single base substitution C T upstream_gene_variant BRCA-US 14 45431981 45431981 insertion of <=200bp - G downstream_gene_variant BRCA-US 14 45431981 45431981 insertion of <=200bp - G intron_variant BRCA-US 14 45431981 45431981 insertion of <=200bp - G upstream_gene_variant BRCA-US 14 45465069 45465069 single base substitution G T intron_variant BRCA-US 14 45473438 45473438 single base substitution A C intron_variant BRCA-US 14 45473547 45473547 single base substitution T A intron_variant BRCA-US 14 45475465 45475465 single base substitution G T intron_variant BRCA-US 14 45496657 45496657 single base substitution G C intron_variant BRCA-US 14 45497438 45497438 single base substitution G T intron_variant BRCA-US 14 45512944 45512944 single base substitution G A upstream_gene_variant BRCA-US 14 45513889 45513889 single base substitution G A upstream_gene_variant BTCA-JP 14 45430163 45430163 single base substitution T A 5_prime_UTR_variant BTCA-JP 14 45430163 45430163 single base substitution T A downstream_gene_variant BTCA-JP 14 45430163 45430163 single base substitution T A intron_variant BTCA-JP 14 45432518 45432526 deletion of <=200bp TCTGCCCTC - downstream_gene_variant BTCA-JP 14 45432518 45432526 deletion of <=200bp TCTGCCCTC - intron_variant BTCA-JP 14 45432518 45432526 deletion of <=200bp TCTGCCCTC - upstream_gene_variant BTCA-JP 14 45433284 45433284 single base substitution G A exon_variant BTCA-JP 14 45433284 45433284 single base substitution G A intron_variant BTCA-JP 14 45433284 45433284 single base substitution G A upstream_gene_variant BTCA-JP 14 45433685 45433689 deletion of <=200bp TTTTC - intron_variant BTCA-JP 14 45433685 45433689 deletion of <=200bp TTTTC - upstream_gene_variant BTCA-JP 14 45494967 45494967 insertion of <=200bp - T intron_variant CESC-US 14 45398273 45398273 single base substitution G T synonymous_variant G558G 1674C>A CESC-US 14 45398273 45398273 single base substitution G T synonymous_variant G572G 1716C>A CESC-US 14 45403317 45403317 single base substitution C A splice_donor_variant CESC-US 14 45414681 45414681 single base substitution C T downstream_gene_variant CESC-US 14 45414681 45414681 single base substitution C T missense_variant D151N 451G>A CESC-US 14 45414681 45414681 single base substitution C T missense_variant D165N 493G>A CESC-US 14 45432171 45432171 single base substitution C T downstream_gene_variant CESC-US 14 45432171 45432171 single base substitution C T intron_variant CESC-US 14 45432171 45432171 single base substitution C T upstream_gene_variant CESC-US 14 45432442 45432442 single base substitution C G downstream_gene_variant CESC-US 14 45432442 45432442 single base substitution C G intron_variant CESC-US 14 45432442 45432442 single base substitution C G upstream_gene_variant CESC-US 14 45464961 45464961 single base substitution G A intron_variant CESC-US 14 45465012 45465012 single base substitution G A intron_variant CLLE-ES 14 45392553 45392553 single base substitution G A downstream_gene_variant CLLE-ES 14 45392897 45392897 single base substitution T A downstream_gene_variant CLLE-ES 14 45393593 45393593 single base substitution A C 3_prime_UTR_variant CLLE-ES 14 45393593 45393593 single base substitution A C downstream_gene_variant CLLE-ES 14 45421758 45421758 single base substitution C T intron_variant CLLE-ES 14 45447132 45447132 single base substitution C T intron_variant CLLE-ES 14 45453565 45453565 single base substitution T C intron_variant CLLE-ES 14 45461529 45461529 single base substitution C T intron_variant CLLE-ES 14 45480727 45480727 single base substitution G C intron_variant COAD-US 14 45403535 45403535 single base substitution G A stop_gained R376* 1126C>T COAD-US 14 45403535 45403535 single base substitution G A stop_gained R390* 1168C>T COAD-US 14 45414458 45414458 single base substitution C T downstream_gene_variant COAD-US 14 45414458 45414458 single base substitution C T missense_variant R225Q 674G>A COAD-US 14 45414458 45414458 single base substitution C T missense_variant R239Q 716G>A COAD-US 14 45415046 45415046 single base substitution C T missense_variant R29H 86G>A COAD-US 14 45415046 45415046 single base substitution C T missense_variant R43H 128G>A COAD-US 14 45431713 45431713 deletion of <=200bp C - downstream_gene_variant COAD-US 14 45431713 45431713 deletion of <=200bp C - intron_variant COAD-US 14 45431713 45431713 deletion of <=200bp C - upstream_gene_variant COAD-US 14 45431739 45431739 deletion of <=200bp G - downstream_gene_variant COAD-US 14 45431739 45431739 deletion of <=200bp G - intron_variant COAD-US 14 45431739 45431739 deletion of <=200bp G - upstream_gene_variant COAD-US 14 45432197 45432197 single base substitution G T downstream_gene_variant COAD-US 14 45432197 45432197 single base substitution G T intron_variant COAD-US 14 45432197 45432197 single base substitution G T upstream_gene_variant COAD-US 14 45432314 45432314 single base substitution T G downstream_gene_variant COAD-US 14 45432314 45432314 single base substitution T G intron_variant COAD-US 14 45432314 45432314 single base substitution T G upstream_gene_variant COAD-US 14 45433322 45433322 single base substitution G T intron_variant COAD-US 14 45433322 45433322 single base substitution G T upstream_gene_variant COAD-US 14 45433527 45433527 single base substitution C T intron_variant COAD-US 14 45433527 45433527 single base substitution C T upstream_gene_variant COAD-US 14 45433645 45433645 single base substitution C T intron_variant COAD-US 14 45433645 45433645 single base substitution C T upstream_gene_variant COAD-US 14 45468648 45468648 single base substitution T C intron_variant COAD-US 14 45473539 45473539 single base substitution A G intron_variant COAD-US 14 45475266 45475266 single base substitution G A intron_variant COAD-US 14 45475318 45475318 single base substitution A G intron_variant COAD-US 14 45475374 45475374 single base substitution G T intron_variant COAD-US 14 45497476 45497476 deletion of <=200bp A - intron_variant COAD-US 14 45497483 45497483 single base substitution T A intron_variant COAD-US 14 45497493 45497493 single base substitution C T intron_variant COCA-CN 14 45403317 45403317 single base substitution C T splice_donor_variant COCA-CN 14 45403705 45403705 single base substitution A T missense_variant I319N 956T>A COCA-CN 14 45403705 45403705 single base substitution A T missense_variant I333N 998T>A COCA-CN 14 45414891 45414891 single base substitution T C downstream_gene_variant COCA-CN 14 45414891 45414891 single base substitution T C missense_variant I81V 241A>G COCA-CN 14 45414891 45414891 single base substitution T C missense_variant I95V 283A>G COCA-CN 14 45415025 45415025 single base substitution T C missense_variant D36G 107A>G COCA-CN 14 45415025 45415025 single base substitution T C missense_variant D50G 149A>G COCA-CN 14 45432862 45432862 single base substitution G A downstream_gene_variant COCA-CN 14 45432862 45432862 single base substitution G A intron_variant COCA-CN 14 45432862 45432862 single base substitution G A upstream_gene_variant COCA-CN 14 45432995 45432995 single base substitution A C downstream_gene_variant COCA-CN 14 45432995 45432995 single base substitution A C intron_variant COCA-CN 14 45432995 45432995 single base substitution A C upstream_gene_variant COCA-CN 14 45433660 45433660 single base substitution A T intron_variant COCA-CN 14 45433660 45433660 single base substitution A T upstream_gene_variant COCA-CN 14 45433708 45433708 single base substitution G T intron_variant COCA-CN 14 45433708 45433708 single base substitution G T upstream_gene_variant COCA-CN 14 45473286 45473286 single base substitution C A intron_variant COCA-CN 14 45473456 45473456 single base substitution C A intron_variant COCA-CN 14 45478165 45478165 single base substitution C T intron_variant COCA-CN 14 45478240 45478240 single base substitution C T intron_variant COCA-CN 14 45478315 45478315 single base substitution C A intron_variant COCA-CN 14 45490632 45490632 single base substitution G T intron_variant COCA-CN 14 45490650 45490650 single base substitution A G intron_variant COCA-CN 14 45515842 45515842 single base substitution G T upstream_gene_variant ESAD-UK 14 45390111 45390111 deletion of <=200bp T - downstream_gene_variant ESAD-UK 14 45390612 45390613 deletion of <=200bp CA - downstream_gene_variant ESAD-UK 14 45391050 45391050 single base substitution C T downstream_gene_variant ESAD-UK 14 45391084 45391084 single base substitution C T downstream_gene_variant ESAD-UK 14 45391348 45391348 single base substitution T A downstream_gene_variant ESAD-UK 14 45392006 45392006 single base substitution T A downstream_gene_variant ESAD-UK 14 45392736 45392736 single base substitution T C downstream_gene_variant ESAD-UK 14 45392890 45392890 single base substitution G A downstream_gene_variant ESAD-UK 14 45396842 45396842 single base substitution G T 3_prime_UTR_variant ESAD-UK 14 45396842 45396842 single base substitution G T downstream_gene_variant ESAD-UK 14 45399101 45399101 single base substitution C T intron_variant ESAD-UK 14 45401813 45401813 single base substitution T A intron_variant ESAD-UK 14 45403777 45403777 insertion of <=200bp - A intron_variant ESAD-UK 14 45403937 45403937 single base substitution G A intron_variant ESAD-UK 14 45405952 45405952 single base substitution G A intron_variant ESAD-UK 14 45406144 45406144 single base substitution C A intron_variant ESAD-UK 14 45408910 45408910 single base substitution C G intron_variant ESAD-UK 14 45409170 45409170 single base substitution C G intron_variant ESAD-UK 14 45410679 45410679 single base substitution A G downstream_gene_variant ESAD-UK 14 45410679 45410679 single base substitution A G intron_variant ESAD-UK 14 45411888 45411888 single base substitution C T downstream_gene_variant ESAD-UK 14 45411888 45411888 single base substitution C T intron_variant ESAD-UK 14 45412496 45412496 single base substitution C T downstream_gene_variant ESAD-UK 14 45412496 45412496 single base substitution C T intron_variant ESAD-UK 14 45414757 45414757 single base substitution A G downstream_gene_variant ESAD-UK 14 45414757 45414757 single base substitution A G synonymous_variant C125C 375T>C ESAD-UK 14 45414757 45414757 single base substitution A G synonymous_variant C139C 417T>C ESAD-UK 14 45416597 45416597 single base substitution G T intron_variant ESAD-UK 14 45416920 45416920 single base substitution T A intron_variant ESAD-UK 14 45418672 45418672 single base substitution T C intron_variant ESAD-UK 14 45419159 45419159 single base substitution C T intron_variant ESAD-UK 14 45420170 45420170 single base substitution G A intron_variant ESAD-UK 14 45423356 45423356 single base substitution G C intron_variant ESAD-UK 14 45426840 45426840 single base substitution C T intron_variant ESAD-UK 14 45429352 45429352 deletion of <=200bp A - downstream_gene_variant ESAD-UK 14 45429352 45429352 deletion of <=200bp A - intron_variant ESAD-UK 14 45430850 45430850 single base substitution T C 5_prime_UTR_variant ESAD-UK 14 45430850 45430850 single base substitution T C downstream_gene_variant ESAD-UK 14 45430850 45430850 single base substitution T C intron_variant ESAD-UK 14 45430850 45430850 single base substitution T C upstream_gene_variant ESAD-UK 14 45431997 45431997 single base substitution G T downstream_gene_variant ESAD-UK 14 45431997 45431997 single base substitution G T intron_variant ESAD-UK 14 45431997 45431997 single base substitution G T upstream_gene_variant ESAD-UK 14 45432909 45432909 single base substitution G A downstream_gene_variant ESAD-UK 14 45432909 45432909 single base substitution G A intron_variant ESAD-UK 14 45432909 45432909 single base substitution G A upstream_gene_variant ESAD-UK 14 45436194 45436198 deletion of <=200bp GCCTA - intron_variant ESAD-UK 14 45436194 45436198 deletion of <=200bp GCCTA - upstream_gene_variant ESAD-UK 14 45437129 45437129 insertion of <=200bp - T intron_variant ESAD-UK 14 45438941 45438941 single base substitution C G intron_variant ESAD-UK 14 45439418 45439418 single base substitution G C intron_variant ESAD-UK 14 45441214 45441214 single base substitution G T intron_variant ESAD-UK 14 45441215 45441215 single base substitution A T intron_variant ESAD-UK 14 45442012 45442012 single base substitution T G intron_variant ESAD-UK 14 45442453 45442453 single base substitution T A intron_variant ESAD-UK 14 45443941 45443941 single base substitution C G intron_variant ESAD-UK 14 45443977 45443977 deletion of <=200bp A - intron_variant ESAD-UK 14 45448178 45448178 single base substitution T C intron_variant ESAD-UK 14 45448227 45448227 single base substitution T G intron_variant ESAD-UK 14 45449512 45449512 single base substitution C G intron_variant ESAD-UK 14 45454163 45454163 single base substitution C A intron_variant ESAD-UK 14 45454448 45454448 single base substitution T A intron_variant ESAD-UK 14 45455935 45455935 single base substitution C T intron_variant ESAD-UK 14 45458745 45458745 single base substitution C T intron_variant ESAD-UK 14 45460003 45460003 deletion of <=200bp A - intron_variant ESAD-UK 14 45460662 45460662 single base substitution C T intron_variant ESAD-UK 14 45460863 45460863 single base substitution A G intron_variant ESAD-UK 14 45462952 45462952 single base substitution G A intron_variant ESAD-UK 14 45463317 45463317 single base substitution C T intron_variant ESAD-UK 14 45464643 45464643 single base substitution T G intron_variant ESAD-UK 14 45472543 45472543 single base substitution C A intron_variant ESAD-UK 14 45476392 45476392 single base substitution G C intron_variant ESAD-UK 14 45479471 45479471 single base substitution T C intron_variant ESAD-UK 14 45481128 45481128 single base substitution G A intron_variant ESAD-UK 14 45481129 45481129 single base substitution A T intron_variant ESAD-UK 14 45485141 45485141 single base substitution G T intron_variant ESAD-UK 14 45485384 45485384 single base substitution A C intron_variant ESAD-UK 14 45486217 45486217 single base substitution G T intron_variant ESAD-UK 14 45486918 45486918 single base substitution C G intron_variant ESAD-UK 14 45487898 45487898 single base substitution A G intron_variant ESAD-UK 14 45488652 45488652 single base substitution A C intron_variant ESAD-UK 14 45489811 45489811 single base substitution C T intron_variant ESAD-UK 14 45491579 45491579 single base substitution G A intron_variant ESAD-UK 14 45493541 45493541 insertion of <=200bp - A intron_variant ESAD-UK 14 45495684 45495684 single base substitution C T intron_variant ESAD-UK 14 45497691 45497691 single base substitution G A intron_variant ESAD-UK 14 45498313 45498313 single base substitution A C intron_variant ESAD-UK 14 45499339 45499339 single base substitution A T intron_variant ESAD-UK 14 45500281 45500281 single base substitution A C intron_variant ESAD-UK 14 45502299 45502299 insertion of <=200bp - A intron_variant ESAD-UK 14 45502540 45502540 single base substitution G C intron_variant ESAD-UK 14 45503051 45503051 single base substitution T G intron_variant ESAD-UK 14 45503130 45503130 single base substitution C A intron_variant ESAD-UK 14 45512358 45512358 single base substitution C G upstream_gene_variant ESAD-UK 14 45512448 45512448 single base substitution T C upstream_gene_variant ESAD-UK 14 45512572 45512572 single base substitution C T upstream_gene_variant ESAD-UK 14 45512989 45512989 single base substitution C T upstream_gene_variant ESAD-UK 14 45513744 45513744 single base substitution A C upstream_gene_variant ESAD-UK 14 45514864 45514865 deletion of <=200bp AT - upstream_gene_variant ESCA-CN 14 45398006 45398006 insertion of <=200bp - T 3_prime_UTR_variant ESCA-CN 14 45398006 45398006 insertion of <=200bp - T downstream_gene_variant ESCA-CN 14 45400682 45400682 single base substitution C T missense_variant R469K 1406G>A ESCA-CN 14 45400682 45400682 single base substitution C T missense_variant R483K 1448G>A ESCA-CN 14 45403393 45403393 single base substitution C T missense_variant R423K 1268G>A ESCA-CN 14 45403393 45403393 single base substitution C T missense_variant R437K 1310G>A ESCA-CN 14 45403622 45403622 single base substitution C T missense_variant V347I 1039G>A ESCA-CN 14 45403622 45403622 single base substitution C T missense_variant V361I 1081G>A ESCA-CN 14 45414691 45414692 deletion of <=200bp AT - downstream_gene_variant ESCA-CN 14 45414691 45414692 deletion of <=200bp AT - frameshift_variant Y147 ESCA-CN 14 45414691 45414692 deletion of <=200bp AT - frameshift_variant Y161 ESCA-CN 14 45432568 45432568 single base substitution T G downstream_gene_variant ESCA-CN 14 45432568 45432568 single base substitution T G intron_variant ESCA-CN 14 45432568 45432568 single base substitution T G upstream_gene_variant ESCA-CN 14 45497455 45497455 single base substitution A G intron_variant ESCA-CN 14 45497476 45497476 single base substitution A G intron_variant GBM-US 14 45415013 45415013 single base substitution C A missense_variant R40L 119G>T GBM-US 14 45415013 45415013 single base substitution C A missense_variant R54L 161G>T KIRC-US 14 45432114 45432114 single base substitution C T downstream_gene_variant KIRC-US 14 45432114 45432114 single base substitution C T intron_variant KIRC-US 14 45432114 45432114 single base substitution C T upstream_gene_variant KIRC-US 14 45433129 45433129 single base substitution C A exon_variant KIRC-US 14 45433129 45433129 single base substitution C A intron_variant KIRC-US 14 45433129 45433129 single base substitution C A upstream_gene_variant KIRC-US 14 45433179 45433179 single base substitution C G exon_variant KIRC-US 14 45433179 45433179 single base substitution C G intron_variant KIRC-US 14 45433179 45433179 single base substitution C G upstream_gene_variant KIRC-US 14 45433557 45433557 single base substitution T A intron_variant KIRC-US 14 45433557 45433557 single base substitution T A upstream_gene_variant KIRC-US 14 45468576 45468576 single base substitution G A intron_variant KIRC-US 14 45473301 45473301 single base substitution A C intron_variant KIRC-US 14 45514043 45514043 single base substitution C A upstream_gene_variant KIRC-US 14 45514044 45514044 single base substitution A G upstream_gene_variant KIRP-US 14 45433529 45433529 deletion of <=200bp C - intron_variant KIRP-US 14 45433529 45433529 deletion of <=200bp C - upstream_gene_variant LAML-KR 14 45461306 45461306 single base substitution C A intron_variant LGG-US 14 45400708 45400708 single base substitution C A missense_variant E460D 1380G>T LGG-US 14 45400708 45400708 single base substitution C A missense_variant E474D 1422G>T LGG-US 14 45403339 45403339 single base substitution T C missense_variant Y441C 1322A>G LGG-US 14 45403339 45403339 single base substitution T C missense_variant Y455C 1364A>G LGG-US 14 45403686 45403686 single base substitution T C synonymous_variant G325G 975A>G LGG-US 14 45403686 45403686 single base substitution T C synonymous_variant G339G 1017A>G LGG-US 14 45415078 45415078 deletion of <=200bp A - frameshift_variant S18 LGG-US 14 45415078 45415078 deletion of <=200bp A - frameshift_variant S32 LICA-CN 14 45398290 45398290 single base substitution A T missense_variant W553R 1657T>A LICA-CN 14 45398290 45398290 single base substitution A T missense_variant W567R 1699T>A LICA-CN 14 45431997 45431997 single base substitution G T downstream_gene_variant LICA-CN 14 45431997 45431997 single base substitution G T intron_variant LICA-CN 14 45431997 45431997 single base substitution G T upstream_gene_variant LICA-FR 14 45415755 45415759 deletion of <=200bp TTTTT - intron_variant LICA-FR 14 45451045 45451045 deletion of <=200bp T - intron_variant LICA-FR 14 45467074 45467074 single base substitution A T intron_variant LICA-FR 14 45483247 45483247 deletion of <=200bp T - intron_variant LICA-FR 14 45493121 45493121 single base substitution T G intron_variant LICA-FR 14 45493159 45493159 single base substitution G A intron_variant LICA-FR 14 45514782 45514782 single base substitution A G upstream_gene_variant LIHC-US 14 45414552 45414552 single base substitution T A downstream_gene_variant LIHC-US 14 45414552 45414552 single base substitution T A missense_variant T194S 580A>T LIHC-US 14 45414552 45414552 single base substitution T A missense_variant T208S 622A>T LIHC-US 14 45414969 45414969 single base substitution T C downstream_gene_variant LIHC-US 14 45414969 45414969 single base substitution T C missense_variant S55G 163A>G LIHC-US 14 45414969 45414969 single base substitution T C missense_variant S69G 205A>G LIHC-US 14 45432959 45432959 single base substitution G A downstream_gene_variant LIHC-US 14 45432959 45432959 single base substitution G A intron_variant LIHC-US 14 45432959 45432959 single base substitution G A upstream_gene_variant LIHC-US 14 45433642 45433642 single base substitution A T intron_variant LIHC-US 14 45433642 45433642 single base substitution A T upstream_gene_variant LINC-JP 14 45392219 45392219 single base substitution T A downstream_gene_variant LINC-JP 14 45408483 45408483 single base substitution G T intron_variant LINC-JP 14 45414454 45414454 single base substitution T C downstream_gene_variant LINC-JP 14 45414454 45414454 single base substitution T C synonymous_variant L226L 678A>G LINC-JP 14 45414454 45414454 single base substitution T C synonymous_variant L240L 720A>G LINC-JP 14 45414739 45414739 single base substitution T C downstream_gene_variant LINC-JP 14 45414739 45414739 single base substitution T C synonymous_variant Q131Q 393A>G LINC-JP 14 45414739 45414739 single base substitution T C synonymous_variant Q145Q 435A>G LINC-JP 14 45415309 45415309 single base substitution T C intron_variant LINC-JP 14 45422542 45422542 single base substitution T C intron_variant LINC-JP 14 45429066 45429066 single base substitution T A downstream_gene_variant LINC-JP 14 45429066 45429066 single base substitution T A intron_variant LINC-JP 14 45429812 45429812 single base substitution C A downstream_gene_variant LINC-JP 14 45429812 45429812 single base substitution C A intron_variant LINC-JP 14 45431742 45431742 single base substitution G A downstream_gene_variant LINC-JP 14 45431742 45431742 single base substitution G A intron_variant LINC-JP 14 45431742 45431742 single base substitution G A upstream_gene_variant LINC-JP 14 45433060 45433060 single base substitution T A exon_variant LINC-JP 14 45433060 45433060 single base substitution T A intron_variant LINC-JP 14 45433060 45433060 single base substitution T A upstream_gene_variant LINC-JP 14 45433122 45433122 single base substitution A G exon_variant LINC-JP 14 45433122 45433122 single base substitution A G intron_variant LINC-JP 14 45433122 45433122 single base substitution A G upstream_gene_variant LINC-JP 14 45436505 45436505 single base substitution A G intron_variant LINC-JP 14 45438554 45438554 single base substitution C T intron_variant LINC-JP 14 45448177 45448177 insertion of <=200bp - T intron_variant LINC-JP 14 45451702 45451702 single base substitution G A intron_variant LINC-JP 14 45464269 45464269 single base substitution A G intron_variant LINC-JP 14 45484934 45484934 single base substitution A G intron_variant LINC-JP 14 45495133 45495133 single base substitution C G intron_variant LINC-JP 14 45496204 45496204 single base substitution A G intron_variant LIRI-JP 14 45388711 45388711 single base substitution G A downstream_gene_variant LIRI-JP 14 45389743 45389743 single base substitution T C downstream_gene_variant LIRI-JP 14 45392124 45392124 single base substitution G A downstream_gene_variant LIRI-JP 14 45393576 45393576 single base substitution C A 3_prime_UTR_variant LIRI-JP 14 45393576 45393576 single base substitution C A downstream_gene_variant LIRI-JP 14 45396414 45396414 single base substitution T C 3_prime_UTR_variant LIRI-JP 14 45396414 45396414 single base substitution T C downstream_gene_variant LIRI-JP 14 45398138 45398138 single base substitution C G 3_prime_UTR_variant LIRI-JP 14 45399215 45399215 single base substitution T C intron_variant LIRI-JP 14 45399900 45399900 single base substitution T C intron_variant LIRI-JP 14 45401107 45401107 single base substitution A G intron_variant LIRI-JP 14 45404711 45404711 single base substitution T A intron_variant LIRI-JP 14 45408950 45408950 single base substitution T C intron_variant LIRI-JP 14 45408993 45408993 single base substitution A C intron_variant LIRI-JP 14 45409003 45409003 single base substitution A G intron_variant LIRI-JP 14 45409046 45409046 single base substitution T G intron_variant LIRI-JP 14 45409866 45409866 single base substitution C A downstream_gene_variant LIRI-JP 14 45409866 45409866 single base substitution C A intron_variant LIRI-JP 14 45411681 45411681 single base substitution C T downstream_gene_variant LIRI-JP 14 45411681 45411681 single base substitution C T intron_variant LIRI-JP 14 45412427 45412427 single base substitution T C downstream_gene_variant LIRI-JP 14 45412427 45412427 single base substitution T C intron_variant LIRI-JP 14 45416044 45416044 single base substitution C T intron_variant LIRI-JP 14 45417978 45417978 single base substitution A G intron_variant LIRI-JP 14 45419721 45419721 single base substitution T A intron_variant LIRI-JP 14 45421731 45421731 single base substitution T C intron_variant LIRI-JP 14 45423069 45423069 single base substitution G C intron_variant LIRI-JP 14 45423762 45423762 single base substitution C G intron_variant LIRI-JP 14 45424160 45424160 single base substitution A T intron_variant LIRI-JP 14 45424497 45424497 single base substitution C T intron_variant LIRI-JP 14 45426164 45426164 single base substitution G A intron_variant LIRI-JP 14 45427813 45427813 single base substitution T C intron_variant LIRI-JP 14 45428530 45428530 single base substitution T C downstream_gene_variant LIRI-JP 14 45428530 45428530 single base substitution T C intron_variant LIRI-JP 14 45429192 45429192 single base substitution T C downstream_gene_variant LIRI-JP 14 45429192 45429192 single base substitution T C intron_variant LIRI-JP 14 45430566 45430566 single base substitution T A downstream_gene_variant LIRI-JP 14 45430566 45430566 single base substitution T A intron_variant LIRI-JP 14 45430566 45430566 single base substitution T A upstream_gene_variant LIRI-JP 14 45431371 45431371 single base substitution C G 5_prime_UTR_variant LIRI-JP 14 45431371 45431371 single base substitution C G downstream_gene_variant LIRI-JP 14 45431371 45431371 single base substitution C G intron_variant LIRI-JP 14 45431371 45431371 single base substitution C G upstream_gene_variant LIRI-JP 14 45437003 45437003 single base substitution T C intron_variant LIRI-JP 14 45437901 45437901 single base substitution A G intron_variant LIRI-JP 14 45439510 45439510 single base substitution G A intron_variant LIRI-JP 14 45440158 45440158 single base substitution T C intron_variant LIRI-JP 14 45440633 45440633 single base substitution T A intron_variant LIRI-JP 14 45442284 45442284 single base substitution G C intron_variant LIRI-JP 14 45443929 45443929 single base substitution A G intron_variant LIRI-JP 14 45444559 45444559 single base substitution A G intron_variant LIRI-JP 14 45444863 45444863 single base substitution T C intron_variant LIRI-JP 14 45445096 45445096 single base substitution T A intron_variant LIRI-JP 14 45446548 45446548 single base substitution C G intron_variant LIRI-JP 14 45448474 45448474 single base substitution A G intron_variant LIRI-JP 14 45448547 45448547 single base substitution C T intron_variant LIRI-JP 14 45449381 45449381 single base substitution T C intron_variant LIRI-JP 14 45449393 45449393 single base substitution T C intron_variant LIRI-JP 14 45450640 45450640 single base substitution T G intron_variant LIRI-JP 14 45450739 45450739 single base substitution T C intron_variant LIRI-JP 14 45451421 45451421 single base substitution T A intron_variant LIRI-JP 14 45452685 45452685 single base substitution G A intron_variant LIRI-JP 14 45453563 45453563 single base substitution T G intron_variant LIRI-JP 14 45454237 45454237 single base substitution G A intron_variant LIRI-JP 14 45455699 45455699 single base substitution C T intron_variant LIRI-JP 14 45460104 45460104 single base substitution A G intron_variant LIRI-JP 14 45460755 45460755 single base substitution A G intron_variant LIRI-JP 14 45463651 45463651 single base substitution T G intron_variant LIRI-JP 14 45464053 45464053 single base substitution T G intron_variant LIRI-JP 14 45466120 45466120 single base substitution C G intron_variant LIRI-JP 14 45468790 45468790 single base substitution A G intron_variant LIRI-JP 14 45469468 45469468 single base substitution C G intron_variant LIRI-JP 14 45469476 45469476 single base substitution A G intron_variant LIRI-JP 14 45473302 45473302 single base substitution A G intron_variant LIRI-JP 14 45474241 45474241 single base substitution C G intron_variant LIRI-JP 14 45479318 45479318 single base substitution G A intron_variant LIRI-JP 14 45479462 45479462 single base substitution C A intron_variant LIRI-JP 14 45487345 45487345 single base substitution C A intron_variant LIRI-JP 14 45490413 45490413 single base substitution G T intron_variant LIRI-JP 14 45492200 45492200 single base substitution A G intron_variant LIRI-JP 14 45492618 45492618 single base substitution C T intron_variant LIRI-JP 14 45493224 45493224 single base substitution G A intron_variant LIRI-JP 14 45493494 45493494 single base substitution T A intron_variant LIRI-JP 14 45495211 45495211 single base substitution A G intron_variant LIRI-JP 14 45495424 45495424 single base substitution A G intron_variant LIRI-JP 14 45495975 45495975 single base substitution C G intron_variant LIRI-JP 14 45498648 45498648 single base substitution A G intron_variant LIRI-JP 14 45499098 45499098 single base substitution C T intron_variant LIRI-JP 14 45499467 45499467 single base substitution C G intron_variant LIRI-JP 14 45501667 45501667 single base substitution A G intron_variant LIRI-JP 14 45501766 45501766 single base substitution C T intron_variant LIRI-JP 14 45501983 45501983 single base substitution T C intron_variant LIRI-JP 14 45503975 45503975 single base substitution A G intron_variant LIRI-JP 14 45505121 45505121 single base substitution C T intron_variant LIRI-JP 14 45510082 45510082 single base substitution A C intron_variant LIRI-JP 14 45510104 45510104 single base substitution T C intron_variant LIRI-JP 14 45510178 45510178 single base substitution G A intron_variant LIRI-JP 14 45511596 45511596 single base substitution A G upstream_gene_variant LIRI-JP 14 45511942 45511942 single base substitution T A upstream_gene_variant LIRI-JP 14 45514612 45514612 single base substitution A G upstream_gene_variant LIRI-JP 14 45515172 45515172 single base substitution A G upstream_gene_variant LIRI-JP 14 45515251 45515251 single base substitution T C upstream_gene_variant LUSC-KR 14 45390392 45390392 single base substitution G T downstream_gene_variant LUSC-KR 14 45390979 45390979 single base substitution C A downstream_gene_variant LUSC-KR 14 45391244 45391244 single base substitution G C downstream_gene_variant LUSC-KR 14 45392607 45392607 single base substitution C T downstream_gene_variant LUSC-KR 14 45395336 45395336 single base substitution C G 3_prime_UTR_variant LUSC-KR 14 45395336 45395336 single base substitution C G downstream_gene_variant LUSC-KR 14 45395714 45395714 single base substitution T A 3_prime_UTR_variant LUSC-KR 14 45395714 45395714 single base substitution T A downstream_gene_variant LUSC-KR 14 45399309 45399309 single base substitution C G intron_variant LUSC-KR 14 45404614 45404614 single base substitution T C intron_variant LUSC-KR 14 45411546 45411546 single base substitution C A downstream_gene_variant LUSC-KR 14 45411546 45411546 single base substitution C A intron_variant LUSC-KR 14 45412378 45412378 single base substitution C A downstream_gene_variant LUSC-KR 14 45412378 45412378 single base substitution C A intron_variant LUSC-KR 14 45415907 45415907 single base substitution T G intron_variant LUSC-KR 14 45416243 45416243 single base substitution C T intron_variant LUSC-KR 14 45418541 45418541 single base substitution T G intron_variant LUSC-KR 14 45421277 45421277 single base substitution T G intron_variant LUSC-KR 14 45422294 45422294 single base substitution T G intron_variant LUSC-KR 14 45423663 45423663 single base substitution G C intron_variant LUSC-KR 14 45424201 45424201 single base substitution C T intron_variant LUSC-KR 14 45427815 45427815 single base substitution T C intron_variant LUSC-KR 14 45436005 45436005 single base substitution A G intron_variant LUSC-KR 14 45436005 45436005 single base substitution A G upstream_gene_variant LUSC-KR 14 45437410 45437410 single base substitution T C intron_variant LUSC-KR 14 45437768 45437768 single base substitution A G intron_variant LUSC-KR 14 45437942 45437942 single base substitution A C intron_variant LUSC-KR 14 45438337 45438337 single base substitution C T intron_variant LUSC-KR 14 45438379 45438379 single base substitution T C intron_variant LUSC-KR 14 45447668 45447668 single base substitution A G intron_variant LUSC-KR 14 45449366 45449366 single base substitution G A intron_variant LUSC-KR 14 45449738 45449738 single base substitution G T intron_variant LUSC-KR 14 45449926 45449926 single base substitution G A intron_variant LUSC-KR 14 45450368 45450368 single base substitution G T intron_variant LUSC-KR 14 45453213 45453213 single base substitution G C intron_variant LUSC-KR 14 45455736 45455736 single base substitution G A intron_variant LUSC-KR 14 45456026 45456026 single base substitution G T intron_variant LUSC-KR 14 45460748 45460748 single base substitution G A intron_variant LUSC-KR 14 45461082 45461082 single base substitution A T intron_variant LUSC-KR 14 45461840 45461840 single base substitution G T intron_variant LUSC-KR 14 45462915 45462915 single base substitution A G intron_variant LUSC-KR 14 45464183 45464183 single base substitution A G intron_variant LUSC-KR 14 45466141 45466141 single base substitution C T intron_variant LUSC-KR 14 45470277 45470277 single base substitution G T intron_variant LUSC-KR 14 45470960 45470960 single base substitution T A intron_variant LUSC-KR 14 45474605 45474605 single base substitution G T intron_variant LUSC-KR 14 45474858 45474858 single base substitution G T intron_variant LUSC-KR 14 45475020 45475020 single base substitution C A intron_variant LUSC-KR 14 45475139 45475139 single base substitution G A intron_variant LUSC-KR 14 45476825 45476825 single base substitution G C intron_variant LUSC-KR 14 45476890 45476890 single base substitution G T intron_variant LUSC-KR 14 45478869 45478869 single base substitution T G intron_variant LUSC-KR 14 45480357 45480357 single base substitution A T intron_variant LUSC-KR 14 45482234 45482234 single base substitution T C intron_variant LUSC-KR 14 45483266 45483266 single base substitution G T intron_variant LUSC-KR 14 45485887 45485887 single base substitution A C intron_variant LUSC-KR 14 45488264 45488264 single base substitution T C intron_variant LUSC-KR 14 45488352 45488352 single base substitution G T intron_variant LUSC-KR 14 45489720 45489720 single base substitution C T intron_variant LUSC-KR 14 45490460 45490460 single base substitution T C intron_variant LUSC-KR 14 45491469 45491469 single base substitution C A intron_variant LUSC-KR 14 45505534 45505534 single base substitution C G intron_variant LUSC-KR 14 45506793 45506793 single base substitution G A intron_variant LUSC-KR 14 45508273 45508273 single base substitution C G intron_variant LUSC-KR 14 45508944 45508944 single base substitution C T intron_variant LUSC-KR 14 45509215 45509215 single base substitution G T intron_variant LUSC-KR 14 45509301 45509301 single base substitution C A intron_variant LUSC-US 14 45400541 45400541 single base substitution C G missense_variant R516T 1547G>C LUSC-US 14 45400541 45400541 single base substitution C G missense_variant R530T 1589G>C LUSC-US 14 45400680 45400680 single base substitution T C missense_variant I470V 1408A>G LUSC-US 14 45400680 45400680 single base substitution T C missense_variant I484V 1450A>G LUSC-US 14 45403624 45403624 single base substitution C G missense_variant G346A 1037G>C LUSC-US 14 45403624 45403624 single base substitution C G missense_variant G360A 1079G>C LUSC-US 14 45414769 45414769 single base substitution C A downstream_gene_variant LUSC-US 14 45414769 45414769 single base substitution C A synonymous_variant L121L 363G>T LUSC-US 14 45414769 45414769 single base substitution C A synonymous_variant L135L 405G>T LUSC-US 14 45414864 45414864 single base substitution C A downstream_gene_variant LUSC-US 14 45414864 45414864 single base substitution C A missense_variant V104L 310G>T LUSC-US 14 45414864 45414864 single base substitution C A missense_variant V90L 268G>T LUSC-US 14 45468664 45468664 single base substitution C G intron_variant LUSC-US 14 45512921 45512921 single base substitution G C upstream_gene_variant MALY-DE 14 45391359 45391359 single base substitution T G downstream_gene_variant MALY-DE 14 45392006 45392006 single base substitution T A downstream_gene_variant MALY-DE 14 45392469 45392469 single base substitution T G downstream_gene_variant MALY-DE 14 45396455 45396455 single base substitution C G 3_prime_UTR_variant MALY-DE 14 45396455 45396455 single base substitution C G downstream_gene_variant MALY-DE 14 45397794 45397794 single base substitution T C 3_prime_UTR_variant MALY-DE 14 45397794 45397794 single base substitution T C downstream_gene_variant MALY-DE 14 45406732 45406732 single base substitution T C intron_variant MALY-DE 14 45409757 45409757 single base substitution C T downstream_gene_variant MALY-DE 14 45409757 45409757 single base substitution C T intron_variant MALY-DE 14 45417273 45417273 single base substitution T A intron_variant MALY-DE 14 45422171 45422171 single base substitution G A intron_variant MALY-DE 14 45425433 45425433 single base substitution G A intron_variant MALY-DE 14 45428632 45428632 single base substitution A G 5_prime_UTR_variant MALY-DE 14 45428632 45428632 single base substitution A G downstream_gene_variant MALY-DE 14 45428632 45428632 single base substitution A G intron_variant MALY-DE 14 45430203 45430203 deletion of <=200bp A - 5_prime_UTR_variant MALY-DE 14 45430203 45430203 deletion of <=200bp A - downstream_gene_variant MALY-DE 14 45430203 45430203 deletion of <=200bp A - intron_variant MALY-DE 14 45435814 45435814 single base substitution A T intron_variant MALY-DE 14 45435814 45435814 single base substitution A T upstream_gene_variant MALY-DE 14 45441151 45441151 single base substitution G A intron_variant MALY-DE 14 45442799 45442799 single base substitution C A intron_variant MALY-DE 14 45449136 45449136 single base substitution G A intron_variant MALY-DE 14 45451202 45451202 single base substitution C T intron_variant MALY-DE 14 45453638 45453638 single base substitution C T intron_variant MALY-DE 14 45454835 45454835 single base substitution C T intron_variant MALY-DE 14 45459950 45459950 single base substitution A G intron_variant MALY-DE 14 45460125 45460125 single base substitution T G intron_variant MALY-DE 14 45462734 45462734 single base substitution C A intron_variant MALY-DE 14 45464629 45464629 single base substitution G T intron_variant MALY-DE 14 45466691 45466691 single base substitution A C intron_variant MALY-DE 14 45467111 45467111 single base substitution T C intron_variant MALY-DE 14 45473000 45473000 single base substitution G A intron_variant MALY-DE 14 45477267 45477267 single base substitution A C intron_variant MALY-DE 14 45480989 45480990 deletion of <=200bp TG - intron_variant MALY-DE 14 45484511 45484511 insertion of <=200bp - AAAT intron_variant MALY-DE 14 45491274 45491274 single base substitution T G intron_variant MALY-DE 14 45493252 45493252 single base substitution T C intron_variant MALY-DE 14 45498420 45498420 single base substitution C A intron_variant MALY-DE 14 45504996 45504996 single base substitution T C intron_variant MALY-DE 14 45511646 45511647 deletion of <=200bp AC - upstream_gene_variant MALY-DE 14 45513521 45513521 single base substitution G A upstream_gene_variant MALY-DE 14 45514959 45514959 single base substitution C T upstream_gene_variant MELA-AU 14 45388650 45388650 single base substitution G A downstream_gene_variant MELA-AU 14 45388683 45388683 single base substitution A T downstream_gene_variant MELA-AU 14 45388943 45388943 single base substitution G A downstream_gene_variant MELA-AU 14 45388962 45388962 single base substitution C G downstream_gene_variant MELA-AU 14 45389063 45389063 single base substitution G A downstream_gene_variant MELA-AU 14 45389306 45389306 single base substitution G A downstream_gene_variant MELA-AU 14 45389925 45389925 single base substitution C T downstream_gene_variant MELA-AU 14 45390685 45390685 single base substitution G A downstream_gene_variant MELA-AU 14 45391281 45391281 single base substitution C T downstream_gene_variant MELA-AU 14 45391748 45391749 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 45392007 45392007 single base substitution A T downstream_gene_variant MELA-AU 14 45392082 45392082 single base substitution G A downstream_gene_variant MELA-AU 14 45392414 45392414 single base substitution G T downstream_gene_variant MELA-AU 14 45393141 45393141 single base substitution C T downstream_gene_variant MELA-AU 14 45393589 45393589 single base substitution G A 3_prime_UTR_variant MELA-AU 14 45393589 45393589 single base substitution G A downstream_gene_variant MELA-AU 14 45394626 45394626 single base substitution T C 3_prime_UTR_variant MELA-AU 14 45394626 45394626 single base substitution T C downstream_gene_variant MELA-AU 14 45394680 45394680 single base substitution G A 3_prime_UTR_variant MELA-AU 14 45394680 45394680 single base substitution G A downstream_gene_variant MELA-AU 14 45395080 45395080 single base substitution G A 3_prime_UTR_variant MELA-AU 14 45395080 45395080 single base substitution G A downstream_gene_variant MELA-AU 14 45395813 45395813 single base substitution G A 3_prime_UTR_variant MELA-AU 14 45395813 45395813 single base substitution G A downstream_gene_variant MELA-AU 14 45395864 45395864 single base substitution A G 3_prime_UTR_variant MELA-AU 14 45395864 45395864 single base substitution A G downstream_gene_variant MELA-AU 14 45395910 45395910 single base substitution C T 3_prime_UTR_variant MELA-AU 14 45395910 45395910 single base substitution C T downstream_gene_variant MELA-AU 14 45396427 45396427 single base substitution G A 3_prime_UTR_variant MELA-AU 14 45396427 45396427 single base substitution G A downstream_gene_variant MELA-AU 14 45397379 45397379 single base substitution T A 3_prime_UTR_variant MELA-AU 14 45397379 45397379 single base substitution T A downstream_gene_variant MELA-AU 14 45399276 45399276 single base substitution A T intron_variant MELA-AU 14 45400363 45400363 single base substitution T C intron_variant MELA-AU 14 45401447 45401447 single base substitution G A intron_variant MELA-AU 14 45401647 45401647 single base substitution G A intron_variant MELA-AU 14 45401674 45401674 single base substitution A T intron_variant MELA-AU 14 45402661 45402661 single base substitution G A intron_variant MELA-AU 14 45404426 45404426 single base substitution G A intron_variant MELA-AU 14 45404794 45404794 single base substitution A G intron_variant MELA-AU 14 45405605 45405605 single base substitution G A intron_variant MELA-AU 14 45405684 45405684 single base substitution T A intron_variant MELA-AU 14 45405733 45405733 single base substitution G A intron_variant MELA-AU 14 45405734 45405734 single base substitution G A intron_variant MELA-AU 14 45406721 45406721 single base substitution C T intron_variant MELA-AU 14 45406723 45406723 single base substitution C T intron_variant MELA-AU 14 45406830 45406830 single base substitution G A intron_variant MELA-AU 14 45407192 45407192 single base substitution A C intron_variant MELA-AU 14 45408707 45408707 single base substitution C T intron_variant MELA-AU 14 45409286 45409286 single base substitution G A intron_variant MELA-AU 14 45410577 45410577 single base substitution G A downstream_gene_variant MELA-AU 14 45410577 45410577 single base substitution G A intron_variant MELA-AU 14 45412454 45412454 single base substitution C T downstream_gene_variant MELA-AU 14 45412454 45412454 single base substitution C T intron_variant MELA-AU 14 45412700 45412700 single base substitution A G downstream_gene_variant MELA-AU 14 45412700 45412700 single base substitution A G intron_variant MELA-AU 14 45412868 45412868 single base substitution T A downstream_gene_variant MELA-AU 14 45412868 45412868 single base substitution T A intron_variant MELA-AU 14 45413848 45413848 single base substitution G A downstream_gene_variant MELA-AU 14 45413848 45413848 single base substitution G A intron_variant MELA-AU 14 45413974 45413974 single base substitution T G downstream_gene_variant MELA-AU 14 45413974 45413974 single base substitution T G intron_variant MELA-AU 14 45415650 45415650 single base substitution T C intron_variant MELA-AU 14 45416053 45416053 single base substitution C T intron_variant MELA-AU 14 45416431 45416431 single base substitution G A intron_variant MELA-AU 14 45416792 45416792 single base substitution G A intron_variant MELA-AU 14 45416967 45416967 single base substitution G A intron_variant MELA-AU 14 45417278 45417278 single base substitution G A intron_variant MELA-AU 14 45419522 45419522 single base substitution C T intron_variant MELA-AU 14 45419744 45419744 single base substitution G T intron_variant MELA-AU 14 45419917 45419918 deletion of <=200bp AG - intron_variant MELA-AU 14 45420459 45420459 single base substitution G A intron_variant MELA-AU 14 45422509 45422509 single base substitution G A intron_variant MELA-AU 14 45422655 45422655 single base substitution G A intron_variant MELA-AU 14 45422670 45422670 single base substitution G A intron_variant MELA-AU 14 45422704 45422704 single base substitution G A intron_variant MELA-AU 14 45423411 45423411 single base substitution G A intron_variant MELA-AU 14 45423851 45423851 single base substitution G T intron_variant MELA-AU 14 45423964 45423964 single base substitution G A intron_variant MELA-AU 14 45424556 45424556 single base substitution G A intron_variant MELA-AU 14 45424700 45424700 single base substitution G A intron_variant MELA-AU 14 45425095 45425095 single base substitution A G intron_variant MELA-AU 14 45425972 45425972 single base substitution A T intron_variant MELA-AU 14 45426115 45426115 single base substitution G A intron_variant MELA-AU 14 45426772 45426772 single base substitution G A intron_variant MELA-AU 14 45426849 45426849 single base substitution T G intron_variant MELA-AU 14 45428486 45428490 deletion of <=200bp AAGAT - downstream_gene_variant MELA-AU 14 45428486 45428490 deletion of <=200bp AAGAT - intron_variant MELA-AU 14 45430485 45430485 single base substitution G C downstream_gene_variant MELA-AU 14 45430485 45430485 single base substitution G C intron_variant MELA-AU 14 45430485 45430485 single base substitution G C upstream_gene_variant MELA-AU 14 45431155 45431155 single base substitution G A 5_prime_UTR_variant MELA-AU 14 45431155 45431155 single base substitution G A downstream_gene_variant MELA-AU 14 45431155 45431155 single base substitution G A intron_variant MELA-AU 14 45431155 45431155 single base substitution G A upstream_gene_variant MELA-AU 14 45431333 45431333 single base substitution G A 5_prime_UTR_variant MELA-AU 14 45431333 45431333 single base substitution G A downstream_gene_variant MELA-AU 14 45431333 45431333 single base substitution G A intron_variant MELA-AU 14 45431333 45431333 single base substitution G A upstream_gene_variant MELA-AU 14 45431333 45431334 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 14 45431333 45431334 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 45431333 45431334 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 45431333 45431334 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 14 45431334 45431334 single base substitution G A 5_prime_UTR_variant MELA-AU 14 45431334 45431334 single base substitution G A downstream_gene_variant MELA-AU 14 45431334 45431334 single base substitution G A intron_variant MELA-AU 14 45431334 45431334 single base substitution G A upstream_gene_variant MELA-AU 14 45431339 45431339 single base substitution C T 5_prime_UTR_variant MELA-AU 14 45431339 45431339 single base substitution C T downstream_gene_variant MELA-AU 14 45431339 45431339 single base substitution C T intron_variant MELA-AU 14 45431339 45431339 single base substitution C T upstream_gene_variant MELA-AU 14 45431370 45431370 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 14 45431370 45431370 single base substitution C T downstream_gene_variant MELA-AU 14 45431370 45431370 single base substitution C T intron_variant MELA-AU 14 45431370 45431370 single base substitution C T upstream_gene_variant MELA-AU 14 45431845 45431845 single base substitution C T downstream_gene_variant MELA-AU 14 45431845 45431845 single base substitution C T intron_variant MELA-AU 14 45431845 45431845 single base substitution C T upstream_gene_variant MELA-AU 14 45433797 45433797 single base substitution C T intron_variant MELA-AU 14 45433797 45433797 single base substitution C T upstream_gene_variant MELA-AU 14 45434188 45434188 single base substitution A T intron_variant MELA-AU 14 45434188 45434188 single base substitution A T upstream_gene_variant MELA-AU 14 45435451 45435451 single base substitution G A intron_variant MELA-AU 14 45435451 45435451 single base substitution G A upstream_gene_variant MELA-AU 14 45436358 45436358 deletion of <=200bp C - intron_variant MELA-AU 14 45436358 45436358 deletion of <=200bp C - upstream_gene_variant MELA-AU 14 45437955 45437955 single base substitution T G intron_variant MELA-AU 14 45438035 45438035 single base substitution C T intron_variant MELA-AU 14 45438083 45438084 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 45438348 45438348 single base substitution C T intron_variant MELA-AU 14 45438586 45438586 single base substitution A G intron_variant MELA-AU 14 45440562 45440562 single base substitution C T intron_variant MELA-AU 14 45441045 45441045 single base substitution T C intron_variant MELA-AU 14 45441057 45441057 single base substitution C T intron_variant MELA-AU 14 45445087 45445087 single base substitution T A intron_variant MELA-AU 14 45445904 45445904 single base substitution C A intron_variant MELA-AU 14 45447160 45447160 single base substitution C T intron_variant MELA-AU 14 45448178 45448178 single base substitution T C intron_variant MELA-AU 14 45448547 45448547 single base substitution C T intron_variant MELA-AU 14 45448690 45448690 single base substitution C T intron_variant MELA-AU 14 45448894 45448894 single base substitution A G intron_variant MELA-AU 14 45449609 45449609 single base substitution C T intron_variant MELA-AU 14 45450379 45450379 single base substitution C T intron_variant MELA-AU 14 45450711 45450711 single base substitution G A intron_variant MELA-AU 14 45451978 45451978 single base substitution G A intron_variant MELA-AU 14 45454834 45454834 single base substitution C T intron_variant MELA-AU 14 45455240 45455240 single base substitution T C intron_variant MELA-AU 14 45455869 45455869 single base substitution T G intron_variant MELA-AU 14 45456238 45456238 single base substitution A G intron_variant MELA-AU 14 45456350 45456350 single base substitution T C intron_variant MELA-AU 14 45457311 45457311 single base substitution G A intron_variant MELA-AU 14 45457939 45457939 single base substitution C T intron_variant MELA-AU 14 45458836 45458836 single base substitution T C intron_variant MELA-AU 14 45460019 45460019 single base substitution G T intron_variant MELA-AU 14 45462220 45462220 single base substitution C T intron_variant MELA-AU 14 45462374 45462374 single base substitution C T intron_variant MELA-AU 14 45462812 45462812 single base substitution C T intron_variant MELA-AU 14 45462846 45462846 single base substitution T A intron_variant MELA-AU 14 45463847 45463847 single base substitution C T intron_variant MELA-AU 14 45464082 45464082 single base substitution A T intron_variant MELA-AU 14 45464538 45464538 single base substitution A C intron_variant MELA-AU 14 45465083 45465083 single base substitution T C intron_variant MELA-AU 14 45465290 45465290 single base substitution C T intron_variant MELA-AU 14 45465720 45465720 single base substitution T C intron_variant MELA-AU 14 45465829 45465829 single base substitution T A intron_variant MELA-AU 14 45467067 45467067 single base substitution G A intron_variant MELA-AU 14 45467400 45467400 single base substitution A G intron_variant MELA-AU 14 45467438 45467438 single base substitution C T intron_variant MELA-AU 14 45467867 45467867 single base substitution C T intron_variant MELA-AU 14 45468009 45468009 single base substitution T C intron_variant MELA-AU 14 45469965 45469965 single base substitution T A intron_variant MELA-AU 14 45470872 45470872 single base substitution C T intron_variant MELA-AU 14 45471137 45471137 single base substitution A C intron_variant MELA-AU 14 45471428 45471428 single base substitution C T intron_variant MELA-AU 14 45471981 45471981 single base substitution C T intron_variant MELA-AU 14 45472106 45472106 single base substitution C T intron_variant MELA-AU 14 45472329 45472329 single base substitution C T intron_variant MELA-AU 14 45472725 45472725 single base substitution C T intron_variant MELA-AU 14 45472743 45472743 single base substitution C T intron_variant MELA-AU 14 45474889 45474889 single base substitution C T intron_variant MELA-AU 14 45475016 45475016 single base substitution C T intron_variant MELA-AU 14 45475157 45475157 single base substitution C T intron_variant MELA-AU 14 45476630 45476630 single base substitution A T intron_variant MELA-AU 14 45478238 45478238 single base substitution C T intron_variant MELA-AU 14 45478329 45478329 single base substitution C T intron_variant MELA-AU 14 45478932 45478932 single base substitution T A intron_variant MELA-AU 14 45479472 45479472 single base substitution C T intron_variant MELA-AU 14 45479527 45479527 single base substitution C T intron_variant MELA-AU 14 45480305 45480305 single base substitution T C intron_variant MELA-AU 14 45480359 45480359 single base substitution G A intron_variant MELA-AU 14 45481166 45481166 single base substitution G C intron_variant MELA-AU 14 45481918 45481918 single base substitution C T intron_variant MELA-AU 14 45481968 45481968 single base substitution A G intron_variant MELA-AU 14 45482462 45482463 multiple base substitution (>=2bp and <=200bp) TT GA intron_variant MELA-AU 14 45482961 45482961 single base substitution C T intron_variant MELA-AU 14 45483588 45483588 single base substitution T C intron_variant MELA-AU 14 45484173 45484173 single base substitution C A intron_variant MELA-AU 14 45485184 45485184 single base substitution C T intron_variant MELA-AU 14 45485346 45485346 single base substitution C T intron_variant MELA-AU 14 45485361 45485361 single base substitution G A intron_variant MELA-AU 14 45485632 45485632 single base substitution C T intron_variant MELA-AU 14 45486320 45486320 single base substitution C T intron_variant MELA-AU 14 45486384 45486384 single base substitution G A intron_variant MELA-AU 14 45486563 45486563 single base substitution C T intron_variant MELA-AU 14 45487210 45487210 single base substitution C T intron_variant MELA-AU 14 45487211 45487211 single base substitution C T intron_variant MELA-AU 14 45487332 45487332 single base substitution A T intron_variant MELA-AU 14 45487990 45487990 single base substitution C T intron_variant MELA-AU 14 45488066 45488066 single base substitution C T intron_variant MELA-AU 14 45488220 45488220 single base substitution C T intron_variant MELA-AU 14 45488287 45488287 single base substitution C T intron_variant MELA-AU 14 45488361 45488361 single base substitution A T intron_variant MELA-AU 14 45488781 45488782 multiple base substitution (>=2bp and <=200bp) TT GG intron_variant MELA-AU 14 45489126 45489126 single base substitution C T intron_variant MELA-AU 14 45489521 45489521 single base substitution C T intron_variant MELA-AU 14 45490301 45490301 single base substitution G T intron_variant MELA-AU 14 45490531 45490531 single base substitution C T intron_variant MELA-AU 14 45490569 45490569 single base substitution C T intron_variant MELA-AU 14 45490619 45490619 single base substitution C T intron_variant MELA-AU 14 45490826 45490826 single base substitution C T intron_variant MELA-AU 14 45491140 45491140 single base substitution C T intron_variant MELA-AU 14 45491789 45491789 single base substitution G A intron_variant MELA-AU 14 45491859 45491859 single base substitution C T intron_variant MELA-AU 14 45492224 45492224 single base substitution C T intron_variant MELA-AU 14 45492797 45492797 single base substitution T C intron_variant MELA-AU 14 45493835 45493835 single base substitution C T intron_variant MELA-AU 14 45494873 45494873 single base substitution T C intron_variant MELA-AU 14 45494876 45494876 single base substitution T C intron_variant MELA-AU 14 45495949 45495949 single base substitution C T intron_variant MELA-AU 14 45496179 45496179 single base substitution C T intron_variant MELA-AU 14 45496416 45496416 single base substitution A T intron_variant MELA-AU 14 45497372 45497372 single base substitution C T intron_variant MELA-AU 14 45497485 45497485 single base substitution C T intron_variant MELA-AU 14 45497897 45497897 single base substitution T A intron_variant MELA-AU 14 45497937 45497937 single base substitution G A intron_variant MELA-AU 14 45498029 45498029 single base substitution C T intron_variant MELA-AU 14 45498169 45498169 single base substitution T C intron_variant MELA-AU 14 45498260 45498260 single base substitution C T intron_variant MELA-AU 14 45499059 45499059 single base substitution C T intron_variant MELA-AU 14 45499554 45499554 single base substitution G T intron_variant MELA-AU 14 45500408 45500408 single base substitution C T intron_variant MELA-AU 14 45500595 45500595 single base substitution G T intron_variant MELA-AU 14 45500793 45500793 single base substitution C T intron_variant MELA-AU 14 45501016 45501016 single base substitution C T intron_variant MELA-AU 14 45501300 45501300 single base substitution T C intron_variant MELA-AU 14 45501317 45501317 single base substitution C T intron_variant MELA-AU 14 45501332 45501332 single base substitution T C intron_variant MELA-AU 14 45503274 45503274 single base substitution C T intron_variant MELA-AU 14 45503809 45503809 single base substitution C T intron_variant MELA-AU 14 45504389 45504389 single base substitution C T intron_variant MELA-AU 14 45505569 45505569 single base substitution C T intron_variant MELA-AU 14 45505981 45505981 single base substitution C T intron_variant MELA-AU 14 45506294 45506294 single base substitution C T intron_variant MELA-AU 14 45506355 45506355 single base substitution C T intron_variant MELA-AU 14 45506378 45506378 single base substitution C T intron_variant MELA-AU 14 45506506 45506506 single base substitution C T intron_variant MELA-AU 14 45507692 45507692 single base substitution C T intron_variant MELA-AU 14 45507827 45507827 single base substitution G A intron_variant MELA-AU 14 45508426 45508426 single base substitution A T intron_variant MELA-AU 14 45508515 45508515 single base substitution G A intron_variant MELA-AU 14 45509100 45509100 single base substitution C T intron_variant MELA-AU 14 45509556 45509556 single base substitution G A intron_variant MELA-AU 14 45509574 45509574 single base substitution G A intron_variant MELA-AU 14 45509661 45509661 single base substitution A G intron_variant MELA-AU 14 45510629 45510629 single base substitution C T intron_variant MELA-AU 14 45511341 45511341 single base substitution C T 5_prime_UTR_variant MELA-AU 14 45511341 45511341 single base substitution C T exon_variant MELA-AU 14 45511844 45511844 single base substitution A T upstream_gene_variant MELA-AU 14 45512792 45512792 single base substitution C T upstream_gene_variant MELA-AU 14 45513087 45513087 single base substitution C T upstream_gene_variant MELA-AU 14 45513303 45513304 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 45513335 45513336 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 45513767 45513767 single base substitution C T upstream_gene_variant MELA-AU 14 45514197 45514197 single base substitution C T upstream_gene_variant MELA-AU 14 45514286 45514286 single base substitution C T upstream_gene_variant MELA-AU 14 45515341 45515341 single base substitution T C upstream_gene_variant MELA-AU 14 45516342 45516342 single base substitution C T upstream_gene_variant MELA-AU 14 45516404 45516404 single base substitution C T upstream_gene_variant ORCA-IN 14 45401318 45401318 single base substitution G A intron_variant ORCA-IN 14 45414901 45414901 single base substitution C T downstream_gene_variant ORCA-IN 14 45414901 45414901 single base substitution C T synonymous_variant E77E 231G>A ORCA-IN 14 45414901 45414901 single base substitution C T synonymous_variant E91E 273G>A ORCA-IN 14 45421853 45421853 single base substitution C T intron_variant ORCA-IN 14 45424737 45424737 single base substitution G T intron_variant ORCA-IN 14 45441478 45441478 insertion of <=200bp - G intron_variant ORCA-IN 14 45474766 45474766 single base substitution G T intron_variant ORCA-IN 14 45478194 45478194 single base substitution G C intron_variant ORCA-IN 14 45480446 45480446 single base substitution C T intron_variant ORCA-IN 14 45494853 45494853 single base substitution C T intron_variant ORCA-IN 14 45503809 45503809 single base substitution C G intron_variant OV-AU 14 45388857 45388857 single base substitution T A downstream_gene_variant OV-AU 14 45392660 45392660 single base substitution G C downstream_gene_variant OV-AU 14 45404419 45404419 single base substitution T C intron_variant OV-AU 14 45405426 45405426 single base substitution G T intron_variant OV-AU 14 45420210 45420210 single base substitution G C intron_variant OV-AU 14 45428264 45428264 single base substitution C G downstream_gene_variant OV-AU 14 45428264 45428264 single base substitution C G intron_variant OV-AU 14 45431946 45431946 single base substitution G T downstream_gene_variant OV-AU 14 45431946 45431946 single base substitution G T intron_variant OV-AU 14 45431946 45431946 single base substitution G T upstream_gene_variant OV-AU 14 45442821 45442821 single base substitution C A intron_variant OV-AU 14 45460516 45460516 single base substitution C G intron_variant OV-AU 14 45462191 45462191 single base substitution T A intron_variant OV-AU 14 45464779 45464779 single base substitution T C intron_variant OV-AU 14 45467279 45467279 single base substitution G A intron_variant OV-AU 14 45472868 45472868 single base substitution A G intron_variant OV-AU 14 45473815 45473815 single base substitution C G intron_variant OV-AU 14 45477377 45477377 single base substitution A C intron_variant OV-AU 14 45478703 45478703 single base substitution C A intron_variant OV-AU 14 45483915 45483915 single base substitution G A intron_variant OV-AU 14 45485252 45485252 single base substitution G A intron_variant OV-AU 14 45490863 45490863 single base substitution A C intron_variant OV-AU 14 45492610 45492610 single base substitution G A intron_variant OV-AU 14 45497050 45497050 single base substitution C G intron_variant OV-AU 14 45500614 45500614 single base substitution C G intron_variant OV-AU 14 45502570 45502570 single base substitution C T intron_variant OV-AU 14 45504965 45504965 single base substitution A G intron_variant OV-AU 14 45508171 45508171 single base substitution C G intron_variant OV-AU 14 45510361 45510361 single base substitution T G intron_variant OV-AU 14 45515193 45515193 single base substitution T C upstream_gene_variant PACA-AU 14 45389837 45389837 single base substitution C T downstream_gene_variant PACA-AU 14 45392007 45392007 single base substitution A T downstream_gene_variant PACA-AU 14 45395084 45395085 deletion of <=200bp AA - 3_prime_UTR_variant PACA-AU 14 45395084 45395085 deletion of <=200bp AA - downstream_gene_variant PACA-AU 14 45395859 45395859 single base substitution G A 3_prime_UTR_variant PACA-AU 14 45395859 45395859 single base substitution G A downstream_gene_variant PACA-AU 14 45396783 45396783 single base substitution T C 3_prime_UTR_variant PACA-AU 14 45396783 45396783 single base substitution T C downstream_gene_variant PACA-AU 14 45398364 45398364 single base substitution A T missense_variant L528H 1583T>A PACA-AU 14 45398364 45398364 single base substitution A T missense_variant L542H 1625T>A PACA-AU 14 45398523 45398523 single base substitution G C intron_variant PACA-AU 14 45406069 45406069 single base substitution C T intron_variant PACA-AU 14 45411732 45411732 single base substitution A T downstream_gene_variant PACA-AU 14 45411732 45411732 single base substitution A T intron_variant PACA-AU 14 45421287 45421287 single base substitution C T intron_variant PACA-AU 14 45429517 45429517 single base substitution C T downstream_gene_variant PACA-AU 14 45429517 45429517 single base substitution C T intron_variant PACA-AU 14 45433137 45433137 single base substitution G A exon_variant PACA-AU 14 45433137 45433137 single base substitution G A intron_variant PACA-AU 14 45433137 45433137 single base substitution G A upstream_gene_variant PACA-AU 14 45440264 45440264 insertion of <=200bp - TGC intron_variant PACA-AU 14 45442808 45442808 single base substitution C T intron_variant PACA-AU 14 45442821 45442821 single base substitution C A intron_variant PACA-AU 14 45443950 45443950 single base substitution T A intron_variant PACA-AU 14 45444268 45444268 single base substitution T C intron_variant PACA-AU 14 45444715 45444715 single base substitution G C intron_variant PACA-AU 14 45447141 45447141 single base substitution C T intron_variant PACA-AU 14 45447510 45447518 deletion of <=200bp AAAAAGAAA - intron_variant PACA-AU 14 45448045 45448045 single base substitution A G intron_variant PACA-AU 14 45448130 45448145 deletion of <=200bp AGTTCAAGGCCAGACT - intron_variant PACA-AU 14 45448337 45448337 single base substitution A T intron_variant PACA-AU 14 45455047 45455047 single base substitution A C intron_variant PACA-AU 14 45455455 45455455 single base substitution T C intron_variant PACA-AU 14 45456069 45456069 single base substitution C T intron_variant PACA-AU 14 45460538 45460538 single base substitution C T intron_variant PACA-AU 14 45467771 45467771 single base substitution G T intron_variant PACA-AU 14 45467772 45467772 single base substitution G T intron_variant PACA-AU 14 45471294 45471294 single base substitution G A intron_variant PACA-AU 14 45471393 45471393 insertion of <=200bp - A intron_variant PACA-AU 14 45475810 45475810 single base substitution C A intron_variant PACA-AU 14 45480222 45480222 single base substitution A C intron_variant PACA-AU 14 45481017 45481017 single base substitution T C intron_variant PACA-AU 14 45481476 45481476 single base substitution A T intron_variant PACA-AU 14 45486757 45486757 insertion of <=200bp - CCTGTGGTAGAA intron_variant PACA-AU 14 45490478 45490478 single base substitution G A intron_variant PACA-AU 14 45490535 45490535 single base substitution A T intron_variant PACA-AU 14 45493288 45493288 single base substitution A C intron_variant PACA-AU 14 45495243 45495243 single base substitution A G intron_variant PACA-AU 14 45497033 45497033 single base substitution C T intron_variant PACA-AU 14 45497874 45497874 single base substitution G A intron_variant PACA-AU 14 45510249 45510249 insertion of <=200bp - TAA intron_variant PACA-CA 14 45391654 45391654 single base substitution C A downstream_gene_variant PACA-CA 14 45391830 45391830 insertion of <=200bp - G downstream_gene_variant PACA-CA 14 45391831 45391831 deletion of <=200bp G - downstream_gene_variant PACA-CA 14 45392007 45392007 single base substitution A T downstream_gene_variant PACA-CA 14 45393685 45393685 single base substitution A T 3_prime_UTR_variant PACA-CA 14 45393685 45393685 single base substitution A T downstream_gene_variant PACA-CA 14 45394838 45394838 single base substitution C G 3_prime_UTR_variant PACA-CA 14 45394838 45394838 single base substitution C G downstream_gene_variant PACA-CA 14 45398018 45398018 single base substitution C T 3_prime_UTR_variant PACA-CA 14 45399322 45399322 single base substitution G C intron_variant PACA-CA 14 45401207 45401207 single base substitution T A intron_variant PACA-CA 14 45401453 45401453 insertion of <=200bp - G intron_variant PACA-CA 14 45405121 45405121 single base substitution C T intron_variant PACA-CA 14 45406494 45406494 single base substitution A G intron_variant PACA-CA 14 45406880 45406880 single base substitution A G intron_variant PACA-CA 14 45407985 45407985 single base substitution A G intron_variant PACA-CA 14 45411457 45411457 single base substitution C T downstream_gene_variant PACA-CA 14 45411457 45411457 single base substitution C T intron_variant PACA-CA 14 45412106 45412106 single base substitution T C downstream_gene_variant PACA-CA 14 45412106 45412106 single base substitution T C intron_variant PACA-CA 14 45412887 45412887 single base substitution A T downstream_gene_variant PACA-CA 14 45412887 45412887 single base substitution A T intron_variant PACA-CA 14 45414970 45414970 single base substitution G A downstream_gene_variant PACA-CA 14 45414970 45414970 single base substitution G A synonymous_variant A54A 162C>T PACA-CA 14 45414970 45414970 single base substitution G A synonymous_variant A68A 204C>T PACA-CA 14 45415474 45415474 single base substitution C T intron_variant PACA-CA 14 45417367 45417367 single base substitution A T intron_variant PACA-CA 14 45421019 45421019 single base substitution T G intron_variant PACA-CA 14 45423258 45423258 single base substitution C G intron_variant PACA-CA 14 45438348 45438348 single base substitution C T intron_variant PACA-CA 14 45438423 45438423 single base substitution C T intron_variant PACA-CA 14 45441738 45441738 single base substitution C T intron_variant PACA-CA 14 45442308 45442308 single base substitution G A intron_variant PACA-CA 14 45442799 45442799 single base substitution C A intron_variant PACA-CA 14 45444032 45444032 single base substitution T A intron_variant PACA-CA 14 45444581 45444581 single base substitution G T intron_variant PACA-CA 14 45449316 45449316 single base substitution C A intron_variant PACA-CA 14 45450875 45450875 single base substitution G A intron_variant PACA-CA 14 45457319 45457319 single base substitution G T intron_variant PACA-CA 14 45458381 45458381 single base substitution A T intron_variant PACA-CA 14 45460269 45460269 single base substitution C T intron_variant PACA-CA 14 45461252 45461252 single base substitution G T intron_variant PACA-CA 14 45461883 45461883 single base substitution C T intron_variant PACA-CA 14 45463746 45463746 single base substitution C T intron_variant PACA-CA 14 45464433 45464433 single base substitution G A intron_variant PACA-CA 14 45465637 45465637 single base substitution T C intron_variant PACA-CA 14 45475640 45475640 single base substitution C G intron_variant PACA-CA 14 45478594 45478594 single base substitution C T intron_variant PACA-CA 14 45481016 45481016 single base substitution A G intron_variant PACA-CA 14 45481019 45481019 single base substitution C T intron_variant PACA-CA 14 45484526 45484526 single base substitution T C intron_variant PACA-CA 14 45485264 45485264 single base substitution T A intron_variant PACA-CA 14 45486229 45486229 single base substitution G A intron_variant PACA-CA 14 45488076 45488076 single base substitution C T intron_variant PACA-CA 14 45489088 45489088 single base substitution T G intron_variant PACA-CA 14 45492770 45492770 single base substitution A G intron_variant PACA-CA 14 45497488 45497488 single base substitution G A intron_variant PACA-CA 14 45499339 45499339 single base substitution A T intron_variant PACA-CA 14 45499376 45499376 single base substitution A G intron_variant PACA-CA 14 45499907 45499907 single base substitution G T intron_variant PACA-CA 14 45500498 45500498 single base substitution C T intron_variant PACA-CA 14 45502015 45502015 single base substitution G T intron_variant PACA-CA 14 45503112 45503120 deletion of <=200bp TCTCAGCAC - intron_variant PACA-CA 14 45505064 45505064 single base substitution C G intron_variant PACA-CA 14 45513276 45513276 single base substitution G C upstream_gene_variant PACA-CA 14 45514202 45514202 single base substitution G A upstream_gene_variant PACA-CA 14 45515361 45515361 single base substitution A G upstream_gene_variant PAEN-AU 14 45428261 45428261 single base substitution C T downstream_gene_variant PAEN-AU 14 45428261 45428261 single base substitution C T intron_variant PAEN-AU 14 45438313 45438313 single base substitution T C intron_variant PAEN-AU 14 45438366 45438366 single base substitution C T intron_variant PAEN-AU 14 45460934 45460934 single base substitution G T intron_variant PAEN-AU 14 45469017 45469017 single base substitution T G intron_variant PAEN-AU 14 45475636 45475636 single base substitution T G intron_variant PAEN-AU 14 45493205 45493210 deletion of <=200bp AAGTGC - intron_variant PAEN-AU 14 45508116 45508116 single base substitution A G intron_variant PAEN-AU 14 45514853 45514853 single base substitution T C upstream_gene_variant PAEN-IT 14 45399948 45399948 single base substitution T C intron_variant PAEN-IT 14 45406073 45406073 single base substitution T A intron_variant PAEN-IT 14 45448178 45448178 single base substitution T C intron_variant PAEN-IT 14 45482531 45482531 single base substitution A G intron_variant PBCA-DE 14 45391790 45391790 single base substitution T C downstream_gene_variant PBCA-DE 14 45399019 45399019 single base substitution A G intron_variant PBCA-DE 14 45412689 45412689 single base substitution C T downstream_gene_variant PBCA-DE 14 45412689 45412689 single base substitution C T intron_variant PBCA-DE 14 45430203 45430203 deletion of <=200bp A - 5_prime_UTR_variant PBCA-DE 14 45430203 45430203 deletion of <=200bp A - downstream_gene_variant PBCA-DE 14 45430203 45430203 deletion of <=200bp A - intron_variant PBCA-DE 14 45430608 45430608 single base substitution C A downstream_gene_variant PBCA-DE 14 45430608 45430608 single base substitution C A intron_variant PBCA-DE 14 45430608 45430608 single base substitution C A upstream_gene_variant PBCA-DE 14 45430640 45430640 single base substitution G T downstream_gene_variant PBCA-DE 14 45430640 45430640 single base substitution G T intron_variant PBCA-DE 14 45430640 45430640 single base substitution G T upstream_gene_variant PBCA-DE 14 45438348 45438348 single base substitution C T intron_variant PBCA-DE 14 45442809 45442810 deletion of <=200bp AT - intron_variant PBCA-DE 14 45442998 45442998 single base substitution G T intron_variant PBCA-DE 14 45445039 45445039 single base substitution C A intron_variant PBCA-DE 14 45446143 45446143 single base substitution T C intron_variant PBCA-DE 14 45446876 45446876 single base substitution C T intron_variant PBCA-DE 14 45458339 45458339 single base substitution A G intron_variant PBCA-DE 14 45460945 45460945 single base substitution A T intron_variant PBCA-DE 14 45462359 45462359 single base substitution C T intron_variant PBCA-DE 14 45466695 45466695 insertion of <=200bp - T intron_variant PBCA-DE 14 45468877 45468877 single base substitution C A intron_variant PBCA-DE 14 45471293 45471293 single base substitution C T intron_variant PBCA-DE 14 45474935 45474935 single base substitution T C intron_variant PBCA-DE 14 45476700 45476700 single base substitution G T intron_variant PBCA-DE 14 45477718 45477718 single base substitution C T intron_variant PBCA-DE 14 45480989 45480990 deletion of <=200bp TG - intron_variant PBCA-DE 14 45497557 45497557 deletion of <=200bp T - intron_variant PBCA-DE 14 45499810 45499810 insertion of <=200bp - A intron_variant PBCA-DE 14 45501103 45501103 single base substitution C A intron_variant PBCA-DE 14 45501105 45501105 single base substitution G A intron_variant PRAD-CA 14 45399042 45399042 single base substitution G A intron_variant PRAD-CA 14 45420988 45420988 single base substitution G A intron_variant PRAD-CA 14 45442799 45442799 single base substitution C A intron_variant PRAD-CA 14 45445865 45445865 single base substitution G C intron_variant PRAD-CA 14 45469435 45469435 single base substitution C T intron_variant PRAD-CA 14 45477015 45477015 single base substitution C T intron_variant PRAD-CA 14 45504896 45504896 single base substitution A G intron_variant PRAD-UK 14 45389417 45389417 single base substitution C T downstream_gene_variant PRAD-UK 14 45392298 45392298 single base substitution C A downstream_gene_variant PRAD-UK 14 45422441 45422441 single base substitution T C intron_variant PRAD-UK 14 45427894 45427894 deletion of <=200bp T - intron_variant PRAD-UK 14 45436867 45436867 single base substitution G A intron_variant PRAD-UK 14 45445230 45445230 single base substitution T G intron_variant PRAD-UK 14 45463755 45463755 single base substitution G T intron_variant PRAD-UK 14 45484562 45484562 single base substitution T G intron_variant PRAD-UK 14 45500164 45500164 single base substitution A C intron_variant PRAD-US 14 45513865 45513865 single base substitution C T upstream_gene_variant READ-US 14 45403673 45403673 single base substitution C A missense_variant D330Y 988G>T READ-US 14 45403673 45403673 single base substitution C A missense_variant D344Y 1030G>T READ-US 14 45475265 45475265 single base substitution C T intron_variant RECA-EU 14 45394723 45394723 single base substitution T A 3_prime_UTR_variant RECA-EU 14 45394723 45394723 single base substitution T A downstream_gene_variant RECA-EU 14 45404359 45404359 single base substitution C T intron_variant RECA-EU 14 45440683 45440683 single base substitution C A intron_variant RECA-EU 14 45441431 45441431 single base substitution A C intron_variant RECA-EU 14 45443973 45443973 single base substitution C T intron_variant RECA-EU 14 45447456 45447456 single base substitution A G 5_prime_UTR_variant RECA-EU 14 45447456 45447456 single base substitution A G exon_variant RECA-EU 14 45458239 45458239 single base substitution G T intron_variant RECA-EU 14 45464066 45464066 single base substitution A G intron_variant RECA-EU 14 45464067 45464067 single base substitution A T intron_variant RECA-EU 14 45478498 45478498 single base substitution A T intron_variant RECA-EU 14 45481182 45481182 single base substitution G A intron_variant RECA-EU 14 45483035 45483035 single base substitution A G intron_variant RECA-EU 14 45487742 45487742 single base substitution T A intron_variant RECA-EU 14 45510768 45510768 single base substitution A C intron_variant SKCA-BR 14 45391001 45391001 single base substitution C T downstream_gene_variant SKCA-BR 14 45393372 45393372 single base substitution C T downstream_gene_variant SKCA-BR 14 45397892 45397892 single base substitution A T 3_prime_UTR_variant SKCA-BR 14 45397892 45397892 single base substitution A T downstream_gene_variant SKCA-BR 14 45401486 45401486 single base substitution C T intron_variant SKCA-BR 14 45403699 45403699 single base substitution C T missense_variant R321H 962G>A SKCA-BR 14 45403699 45403699 single base substitution C T missense_variant R335H 1004G>A SKCA-BR 14 45405089 45405089 single base substitution G A intron_variant SKCA-BR 14 45405091 45405091 single base substitution G A intron_variant SKCA-BR 14 45405093 45405093 single base substitution G A intron_variant SKCA-BR 14 45405095 45405095 single base substitution A G intron_variant SKCA-BR 14 45405764 45405771 deletion of <=200bp GAAGGTGT - intron_variant SKCA-BR 14 45407439 45407439 single base substitution C T intron_variant SKCA-BR 14 45407445 45407445 single base substitution A C intron_variant SKCA-BR 14 45409856 45409856 single base substitution A C downstream_gene_variant SKCA-BR 14 45409856 45409856 single base substitution A C intron_variant SKCA-BR 14 45413169 45413169 single base substitution T C downstream_gene_variant SKCA-BR 14 45413169 45413169 single base substitution T C intron_variant SKCA-BR 14 45427663 45427663 single base substitution G A intron_variant SKCA-BR 14 45429927 45429927 single base substitution A C downstream_gene_variant SKCA-BR 14 45429927 45429927 single base substitution A C intron_variant SKCA-BR 14 45430601 45430601 single base substitution A G downstream_gene_variant SKCA-BR 14 45430601 45430601 single base substitution A G intron_variant SKCA-BR 14 45430601 45430601 single base substitution A G upstream_gene_variant SKCA-BR 14 45430619 45430619 single base substitution C T downstream_gene_variant SKCA-BR 14 45430619 45430619 single base substitution C T intron_variant SKCA-BR 14 45430619 45430619 single base substitution C T upstream_gene_variant SKCA-BR 14 45431333 45431333 single base substitution G A 5_prime_UTR_variant SKCA-BR 14 45431333 45431333 single base substitution G A downstream_gene_variant SKCA-BR 14 45431333 45431333 single base substitution G A intron_variant SKCA-BR 14 45431333 45431333 single base substitution G A upstream_gene_variant SKCA-BR 14 45438924 45438924 single base substitution T C intron_variant SKCA-BR 14 45440692 45440692 single base substitution G A intron_variant SKCA-BR 14 45443976 45443976 single base substitution G A intron_variant SKCA-BR 14 45443998 45443998 single base substitution T C intron_variant SKCA-BR 14 45449345 45449345 single base substitution T C intron_variant SKCA-BR 14 45451044 45451045 deletion of <=200bp CT - intron_variant SKCA-BR 14 45453019 45453019 single base substitution C T intron_variant SKCA-BR 14 45453045 45453045 single base substitution C T intron_variant SKCA-BR 14 45455233 45455233 single base substitution A G intron_variant SKCA-BR 14 45461275 45461276 deletion of <=200bp TA - intron_variant SKCA-BR 14 45461703 45461703 single base substitution T C intron_variant SKCA-BR 14 45466281 45466281 single base substitution G A intron_variant SKCA-BR 14 45472969 45472969 insertion of <=200bp - CATGTATGTATATGTATACATATACATGCATGT intron_variant SKCA-BR 14 45479200 45479200 single base substitution C T intron_variant SKCA-BR 14 45480988 45480988 insertion of <=200bp - ATG intron_variant SKCA-BR 14 45480990 45480990 single base substitution G A intron_variant SKCA-BR 14 45486047 45486047 single base substitution T C intron_variant SKCA-BR 14 45489126 45489126 single base substitution C T intron_variant SKCA-BR 14 45490412 45490412 single base substitution G A intron_variant SKCA-BR 14 45493877 45493877 single base substitution T G intron_variant SKCA-BR 14 45494638 45494638 single base substitution G A intron_variant SKCA-BR 14 45496038 45496038 insertion of <=200bp - CAAAA intron_variant SKCA-BR 14 45501958 45501958 single base substitution G A intron_variant SKCA-BR 14 45502455 45502455 insertion of <=200bp - CAA intron_variant SKCA-BR 14 45506029 45506029 single base substitution C T intron_variant SKCA-BR 14 45506136 45506136 single base substitution G A intron_variant SKCA-BR 14 45508735 45508735 single base substitution C G intron_variant SKCA-BR 14 45512771 45512771 single base substitution C G upstream_gene_variant SKCA-BR 14 45514794 45514794 single base substitution G A upstream_gene_variant SKCA-BR 14 45514822 45514822 single base substitution A C upstream_gene_variant SKCA-BR 14 45514822 45514822 single base substitution A G upstream_gene_variant SKCA-BR 14 45514828 45514828 single base substitution A G upstream_gene_variant SKCA-BR 14 45514859 45514893 deletion of <=200bp CACACATATATATGTGTATATATATACACATATAT - upstream_gene_variant SKCM-US 14 45403424 45403424 single base substitution A C missense_variant W413G 1237T>G SKCM-US 14 45403424 45403424 single base substitution A C missense_variant W427G 1279T>G SKCM-US 14 45414960 45414960 single base substitution G A downstream_gene_variant SKCM-US 14 45414960 45414960 single base substitution G A missense_variant P58S 172C>T SKCM-US 14 45414960 45414960 single base substitution G A missense_variant P72S 214C>T SKCM-US 14 45433494 45433494 single base substitution T A intron_variant SKCM-US 14 45433494 45433494 single base substitution T A upstream_gene_variant SKCM-US 14 45473543 45473543 single base substitution C T intron_variant SKCM-US 14 45478274 45478274 deletion of <=200bp C - intron_variant SKCM-US 14 45497485 45497485 single base substitution C T intron_variant SKCM-US 14 45513922 45513922 single base substitution C T upstream_gene_variant SKCM-US 14 45513937 45513937 single base substitution A G upstream_gene_variant SKCM-US 14 45513962 45513962 single base substitution C T upstream_gene_variant STAD-US 14 45398293 45398293 single base substitution T G missense_variant T552P 1654A>C STAD-US 14 45398293 45398293 single base substitution T G missense_variant T566P 1696A>C STAD-US 14 45398323 45398323 single base substitution T C missense_variant T542A 1624A>G STAD-US 14 45398323 45398323 single base substitution T C missense_variant T556A 1666A>G STAD-US 14 45400591 45400591 single base substitution G A synonymous_variant Y499Y 1497C>T STAD-US 14 45400591 45400591 single base substitution G A synonymous_variant Y513Y 1539C>T STAD-US 14 45414260 45414260 single base substitution T C downstream_gene_variant STAD-US 14 45414260 45414260 single base substitution T C missense_variant K291R 872A>G STAD-US 14 45414260 45414260 single base substitution T C missense_variant K305R 914A>G STAD-US 14 45414264 45414264 single base substitution C G downstream_gene_variant STAD-US 14 45414264 45414264 single base substitution C G missense_variant G290R 868G>C STAD-US 14 45414264 45414264 single base substitution C G missense_variant G304R 910G>C STAD-US 14 45414389 45414389 single base substitution C T downstream_gene_variant STAD-US 14 45414389 45414389 single base substitution C T missense_variant R248H 743G>A STAD-US 14 45414389 45414389 single base substitution C T missense_variant R262H 785G>A STAD-US 14 45414495 45414495 single base substitution G A downstream_gene_variant STAD-US 14 45414495 45414495 single base substitution G A missense_variant R213C 637C>T STAD-US 14 45414495 45414495 single base substitution G A missense_variant R227C 679C>T STAD-US 14 45414529 45414529 single base substitution T C downstream_gene_variant STAD-US 14 45414529 45414529 single base substitution T C synonymous_variant A201A 603A>G STAD-US 14 45414529 45414529 single base substitution T C synonymous_variant A215A 645A>G STAD-US 14 45414534 45414534 deletion of <=200bp A - downstream_gene_variant STAD-US 14 45414534 45414534 deletion of <=200bp A - frameshift_variant Y200 STAD-US 14 45414534 45414534 deletion of <=200bp A - frameshift_variant Y214 STAD-US 14 45414684 45414684 single base substitution G A downstream_gene_variant STAD-US 14 45414684 45414684 single base substitution G A missense_variant R150C 448C>T STAD-US 14 45414684 45414684 single base substitution G A missense_variant R164C 490C>T STAD-US 14 45414707 45414707 single base substitution C T downstream_gene_variant STAD-US 14 45414707 45414707 single base substitution C T missense_variant R142H 425G>A STAD-US 14 45414707 45414707 single base substitution C T missense_variant R156H 467G>A STAD-US 14 45414826 45414826 single base substitution C T downstream_gene_variant STAD-US 14 45414826 45414826 single base substitution C T synonymous_variant Q102Q 306G>A STAD-US 14 45414826 45414826 single base substitution C T synonymous_variant Q116Q 348G>A STAD-US 14 45431631 45431631 single base substitution G A downstream_gene_variant STAD-US 14 45431631 45431631 single base substitution G A intron_variant STAD-US 14 45431631 45431631 single base substitution G A upstream_gene_variant STAD-US 14 45431635 45431635 insertion of <=200bp - C downstream_gene_variant STAD-US 14 45431635 45431635 insertion of <=200bp - C intron_variant STAD-US 14 45431635 45431635 insertion of <=200bp - C upstream_gene_variant STAD-US 14 45431744 45431744 single base substitution C T downstream_gene_variant STAD-US 14 45431744 45431744 single base substitution C T intron_variant STAD-US 14 45431744 45431744 single base substitution C T upstream_gene_variant STAD-US 14 45431763 45431763 single base substitution A C downstream_gene_variant STAD-US 14 45431763 45431763 single base substitution A C intron_variant STAD-US 14 45431763 45431763 single base substitution A C upstream_gene_variant STAD-US 14 45432035 45432035 single base substitution T C downstream_gene_variant STAD-US 14 45432035 45432035 single base substitution T C intron_variant STAD-US 14 45432035 45432035 single base substitution T C upstream_gene_variant STAD-US 14 45432122 45432122 deletion of <=200bp G - downstream_gene_variant STAD-US 14 45432122 45432122 deletion of <=200bp G - intron_variant STAD-US 14 45432122 45432122 deletion of <=200bp G - upstream_gene_variant STAD-US 14 45432289 45432289 single base substitution G C downstream_gene_variant STAD-US 14 45432289 45432289 single base substitution G C intron_variant STAD-US 14 45432289 45432289 single base substitution G C upstream_gene_variant STAD-US 14 45432443 45432443 single base substitution T G downstream_gene_variant STAD-US 14 45432443 45432443 single base substitution T G intron_variant STAD-US 14 45432443 45432443 single base substitution T G upstream_gene_variant STAD-US 14 45432458 45432458 single base substitution C T downstream_gene_variant STAD-US 14 45432458 45432458 single base substitution C T intron_variant STAD-US 14 45432458 45432458 single base substitution C T upstream_gene_variant STAD-US 14 45432481 45432481 single base substitution G A downstream_gene_variant STAD-US 14 45432481 45432481 single base substitution G A intron_variant STAD-US 14 45432481 45432481 single base substitution G A upstream_gene_variant STAD-US 14 45432816 45432816 single base substitution T C downstream_gene_variant STAD-US 14 45432816 45432816 single base substitution T C intron_variant STAD-US 14 45432816 45432816 single base substitution T C upstream_gene_variant STAD-US 14 45432820 45432820 single base substitution T C downstream_gene_variant STAD-US 14 45432820 45432820 single base substitution T C intron_variant STAD-US 14 45432820 45432820 single base substitution T C upstream_gene_variant STAD-US 14 45433203 45433203 single base substitution C T exon_variant STAD-US 14 45433203 45433203 single base substitution C T intron_variant STAD-US 14 45433203 45433203 single base substitution C T upstream_gene_variant STAD-US 14 45433301 45433301 single base substitution A G intron_variant STAD-US 14 45433301 45433301 single base substitution A G upstream_gene_variant STAD-US 14 45433587 45433587 single base substitution G T intron_variant STAD-US 14 45433587 45433587 single base substitution G T upstream_gene_variant STAD-US 14 45433605 45433605 single base substitution T C intron_variant STAD-US 14 45433605 45433605 single base substitution T C upstream_gene_variant STAD-US 14 45473399 45473399 single base substitution C G intron_variant STAD-US 14 45475281 45475281 single base substitution A C intron_variant STAD-US 14 45478141 45478141 single base substitution G A intron_variant STAD-US 14 45478227 45478227 single base substitution A G intron_variant STAD-US 14 45481239 45481239 insertion of <=200bp - A intron_variant STAD-US 14 45497410 45497410 single base substitution A G intron_variant STAD-US 14 45497476 45497476 deletion of <=200bp A - intron_variant STAD-US 14 45497516 45497516 single base substitution G T intron_variant STAD-US 14 45501482 45501482 single base substitution C T intron_variant THCA-SA 14 45396909 45396909 single base substitution T C 3_prime_UTR_variant THCA-SA 14 45396909 45396909 single base substitution T C downstream_gene_variant THCA-SA 14 45432754 45432754 single base substitution A T downstream_gene_variant THCA-SA 14 45432754 45432754 single base substitution A T intron_variant THCA-SA 14 45432754 45432754 single base substitution A T upstream_gene_variant THCA-US 14 45433228 45433228 single base substitution C T exon_variant THCA-US 14 45433228 45433228 single base substitution C T intron_variant THCA-US 14 45433228 45433228 single base substitution C T upstream_gene_variant UCEC-US 14 45403496 45403496 single base substitution A C missense_variant Y389D 1165T>G UCEC-US 14 45403496 45403496 single base substitution A C missense_variant Y403D 1207T>G UCEC-US 14 45403502 45403502 single base substitution C A stop_gained E387* 1159G>T UCEC-US 14 45403502 45403502 single base substitution C A stop_gained E401* 1201G>T UCEC-US 14 45403545 45403545 single base substitution C T missense_variant M372I 1116G>A UCEC-US 14 45403545 45403545 single base substitution C T missense_variant M386I 1158G>A UCEC-US 14 45403630 45403630 single base substitution C T missense_variant R344H 1031G>A UCEC-US 14 45403630 45403630 single base substitution C T missense_variant R358H 1073G>A UCEC-US 14 45403648 45403648 single base substitution C A missense_variant G338V 1013G>T UCEC-US 14 45403648 45403648 single base substitution C A missense_variant G352V 1055G>T UCEC-US 14 45414302 45414302 single base substitution C T downstream_gene_variant UCEC-US 14 45414302 45414302 single base substitution C T missense_variant R277Q 830G>A UCEC-US 14 45414302 45414302 single base substitution C T missense_variant R291Q 872G>A UCEC-US 14 45414967 45414967 single base substitution G A downstream_gene_variant UCEC-US 14 45414967 45414967 single base substitution G A synonymous_variant S55S 165C>T UCEC-US 14 45414967 45414967 single base substitution G A synonymous_variant S69S 207C>T UCEC-US 14 45414993 45414993 single base substitution G T downstream_gene_variant UCEC-US 14 45414993 45414993 single base substitution G T missense_variant H47N 139C>A UCEC-US 14 45414993 45414993 single base substitution G T missense_variant H61N 181C>A UCEC-US 14 45415030 45415030 single base substitution G C synonymous_variant L34L 102C>G UCEC-US 14 45415030 45415030 single base substitution G C synonymous_variant L48L 144C>G UCEC-US 14 45415035 45415035 single base substitution C T missense_variant E33K 97G>A UCEC-US 14 45415035 45415035 single base substitution C T missense_variant E47K 139G>A UCEC-US 14 45415047 45415047 single base substitution G A missense_variant R29C 85C>T UCEC-US 14 45415047 45415047 single base substitution G A missense_variant R43C 127C>T UCEC-US 14 45431784 45431784 single base substitution G A downstream_gene_variant UCEC-US 14 45431784 45431784 single base substitution G A intron_variant UCEC-US 14 45431784 45431784 single base substitution G A upstream_gene_variant UCEC-US 14 45431819 45431819 single base substitution G A downstream_gene_variant UCEC-US 14 45431819 45431819 single base substitution G A intron_variant UCEC-US 14 45431819 45431819 single base substitution G A upstream_gene_variant UCEC-US 14 45431843 45431843 single base substitution G A downstream_gene_variant UCEC-US 14 45431843 45431843 single base substitution G A intron_variant UCEC-US 14 45431843 45431843 single base substitution G A upstream_gene_variant UCEC-US 14 45431916 45431916 single base substitution C T downstream_gene_variant UCEC-US 14 45431916 45431916 single base substitution C T intron_variant UCEC-US 14 45431916 45431916 single base substitution C T upstream_gene_variant UCEC-US 14 45431996 45431996 single base substitution C T downstream_gene_variant UCEC-US 14 45431996 45431996 single base substitution C T intron_variant UCEC-US 14 45431996 45431996 single base substitution C T upstream_gene_variant UCEC-US 14 45432435 45432435 single base substitution G T downstream_gene_variant UCEC-US 14 45432435 45432435 single base substitution G T intron_variant UCEC-US 14 45432435 45432435 single base substitution G T upstream_gene_variant UCEC-US 14 45433279 45433279 single base substitution C T exon_variant UCEC-US 14 45433279 45433279 single base substitution C T intron_variant UCEC-US 14 45433279 45433279 single base substitution C T upstream_gene_variant UCEC-US 14 45433454 45433454 single base substitution G A intron_variant UCEC-US 14 45433454 45433454 single base substitution G A upstream_gene_variant UCEC-US 14 45433477 45433477 single base substitution G T intron_variant UCEC-US 14 45433477 45433477 single base substitution G T upstream_gene_variant UCEC-US 14 45433542 45433542 single base substitution T C intron_variant UCEC-US 14 45433542 45433542 single base substitution T C upstream_gene_variant UCEC-US 14 45465037 45465037 single base substitution G T intron_variant UCEC-US 14 45465046 45465046 single base substitution G T intron_variant UCEC-US 14 45468592 45468592 single base substitution C A intron_variant UCEC-US 14 45468622 45468622 single base substitution T C intron_variant UCEC-US 14 45473352 45473352 single base substitution T C intron_variant UCEC-US 14 45475279 45475279 single base substitution C T intron_variant UCEC-US 14 45478299 45478299 single base substitution G T intron_variant UCEC-US 14 45512906 45512906 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-F1-A448-01 COSM4050855 c.448C>T p.R150C Substitution - Missense 14:44945481-44945481 - TCGA-BR-7707-01 COSM4050852 c.868G>C p.G290R Substitution - Missense 14:44945061-44945061 - OCC01PT COSM88587 c.689G>A p.S230N Substitution - Missense 14:44945240-44945240 - LUAD-B02515 COSM336037 c.1010G>T p.G337V Substitution - Missense 14:44934448-44934448 - CSCC-11-T COSM4511787 c.880C>T p.L294F Substitution - Missense 14:44945049-44945049 - TCGA-DU-A5TR-01 COSM3968815 c.1322A>G p.Y441C Substitution - Missense 14:44934136-44934136 - SW1116 COSM2197228 c.227T>C p.V76A Substitution - Missense 14:44945702-44945702 - ESO-075 COSM1255976 c.1012G>A p.G338S Substitution - Missense 14:44934446-44934446 - BN33T COSM1607679 c.678A>G p.L226L Substitution - coding silent 14:44945251-44945251 - TCGA-HT-8111-01 COSM3968814 c.1380G>T p.E460D Substitution - Missense 14:44931505-44931505 - TCGA-66-2778-01 COSM698592 c.1547G>C p.R516T Substitution - Missense 14:44931338-44931338 - T2940 COSM4696509 c.1377G>T p.W459C Substitution - Missense 14:44931508-44931508 - cSCCP6 COSM136971 c.1126C>T p.R376* Substitution - Nonsense 14:44934332-44934332 - TCGA-22-4595-01 COSM698590 c.1037G>C p.G346A Substitution - Missense 14:44934421-44934421 - TCGA-BS-A0TC-01 COSM955756 c.139C>A p.H47N Substitution - Missense 14:44945790-44945790 - 8016470 COSM3386542 c.1583T>A p.L528H Substitution - Missense 14:44929161-44929161 - 49T COSM3718473 c.231G>A p.E77E Substitution - coding silent 14:44945698-44945698 - TCGA-EI-6917-01 COSM3419806 c.988G>T p.D330Y Substitution - Missense 14:44934470-44934470 - T36 COSM4696508 c.1419C>T p.G473G Substitution - coding silent 14:44931466-44931466 - TCGA-AP-A0LM-01 COSM955758 c.97G>A p.E33K Substitution - Missense 14:44945832-44945832 - TCGA-BR-8078-01 COSM4050856 c.425G>A p.R142H Substitution - Missense 14:44945504-44945504 - CSCC-40-T COSM4456190 c.757_758CT>TA p.L253Y Substitution - Missense 14:44945171-44945172 - SKNEP1 COSM4577863 c.321T>A p.S107S Substitution - coding silent 14:44945608-44945608 - HCC103T COSM3706281 c.393A>G p.Q131Q Substitution - coding silent 14:44945536-44945536 - ESCC_BICR_016T COSM5439656 c.440_441delAT p.Y147fs*4 Deletion - Frameshift 14:44945488-44945489 - BN33 COSM1607679 c.678A>G p.L226L Substitution - coding silent 14:44945251-44945251 - LUAD-S01306 COSM385550 c.557C>T p.S186F Substitution - Missense 14:44945372-44945372 - TCGA-EB-A430-01 COSM3496051 c.172C>T p.P58S Substitution - Missense 14:44945757-44945757 - TCGA-21-1070-01 COSM698589 c.363G>T p.L121L Substitution - coding silent 14:44945566-44945566 - TCGA-EE-A2ME-06 COSM3886067 c.1237T>G p.W413G Substitution - Missense 14:44934221-44934221 - TCGA-UB-A7MB-01 COSM4932129 c.580A>T p.T194S Substitution - Missense 14:44945349-44945349 - TCGA-GC-A3RC-01 COSM3793699 c.725A>G p.H242R Substitution - Missense 14:44945204-44945204 - SNUH_G16_S1 COSM3999269 c.962G>T p.R321L Substitution - Missense 14:44934496-44934496 - TCGA-AA-A010-01 COSM282279 c.1268G>T p.R423I Substitution - Missense 14:44934190-44934190 - TCGA-C5-A2LX-01 COSM4827319 c.1674C>A p.G558G Substitution - coding silent 14:44929070-44929070 - TCGA-BR-6452-01 COSM4050849 c.1624A>G p.T542A Substitution - Missense 14:44929120-44929120 - 227 COSM4425948 c.92A>G p.H31R Substitution - Missense 14:44945837-44945837 - TCGA-AZ-4315-01 COSM1369826 c.674G>A p.R225Q Substitution - Missense 14:44945255-44945255 - 134413 COSM325641 c.1168G>T p.A390S Substitution - Missense 14:44934290-44934290 - CSCC-10-T COSM4472696 c.17C>G p.P6R Substitution - Missense 14:44945912-44945912 - TCGA-66-2763-01 COSM698591 c.1408A>G p.I470V Substitution - Missense 14:44931477-44931477 - T3080 COSM1369827 c.598delT p.Y200fs*3 Deletion - Frameshift 14:44945331-44945331 - TCGA-AO-A03O-01 COSM433072 c.734G>A p.R245H Substitution - Missense 14:44945195-44945195 - STC246 COSM5053942 c.619A>G p.K207E Substitution - Missense 14:44945310-44945310 - TCGA-CG-5717-01 COSM4050854 c.603A>G p.A201A Substitution - coding silent 14:44945326-44945326 - TCGA-BT-A2LB-01 COSM3793698 c.762G>A p.L254L Substitution - coding silent 14:44945167-44945167 - WA54 COSM236773 c.1302G>T p.M434I Substitution - Missense 14:44934156-44934156 - CRC-19T COSM5481177 c.241A>G p.I81V Substitution - Missense 14:44945688-44945688 - I2L-P7-Tumor-Organoid COSM5362645 c.1359T>A p.D453E Substitution - Missense 14:44931526-44931526 - TCGA-BR-A4QL-01 COSM4050853 c.743G>A p.R248H Substitution - Missense 14:44945186-44945186 - CSCC-55-T COSM4469460 c.15C>T p.S5S Substitution - coding silent 14:44945914-44945914 - sysucc-1315T COSM5480101 c.956T>A p.I319N Substitution - Missense 14:44934502-44934502 - TCGA-DB-A64X-01 COSM3968816 c.975A>G p.G325G Substitution - coding silent 14:44934483-44934483 - LUAD-RT-S01711 COSM380111 c.870G>C p.G290G Substitution - coding silent 14:44945059-44945059 - TCGA-06-2562-01 COSM3401314 c.119G>T p.R40L Substitution - Missense 14:44945810-44945810 - ESCC-153T COSM3936517 c.1406G>A p.R469K Substitution - Missense 14:44931479-44931479 - TCGA-D1-A17Q-01 COSM955758 c.97G>A p.E33K Substitution - Missense 14:44945832-44945832 - TCGA-A6-3809-01 COSM1369827 c.598delT p.Y200fs*3 Deletion - Frameshift 14:44945331-44945331 - CSCC-16-T COSM1212631 c.1688G>A p.R563H Substitution - Missense 14:44929056-44929056 - PCSI_0125_Pa_P COSM3377406 c.162C>T p.A54A Substitution - coding silent 14:44945767-44945767 - 61 COSM5740088 c.169A>G p.S57G Substitution - Missense 14:44945760-44945760 - HN_62417 COSM128345 c.867A>G p.G289G Substitution - coding silent 14:44945062-44945062 - ESCC_BICR_021T COSM2197213 c.1268G>A p.R423K Substitution - Missense 14:44934190-44934190 - LC_C26 COSM1188806 c.1259C>T p.T420M Substitution - Missense 14:44934199-44934199 - TCGA-A6-6653-01 COSM136971 c.1126C>T p.R376* Substitution - Nonsense 14:44934332-44934332 - D18 COSM5007315 c.1343+1G>A p.? Unknown 14:44934114-44934114 - TCGA-B5-A0JY-01 COSM955750 c.1159G>T p.E387* Substitution - Nonsense 14:44934299-44934299 - TCGA-CA-6717-01 COSM1369828 c.86G>A p.R29H Substitution - Missense 14:44945843-44945843 - SW48 COSM2197225 c.483C>T p.C161C Substitution - coding silent 14:44945446-44945446 - TCGA-AP-A0LD-01 COSM955752 c.1031G>A p.R344H Substitution - Missense 14:44934427-44934427 - YULOCUS COSM5382275 c.687G>T p.L229F Substitution - Missense 14:44945242-44945242 - TCGA-BR-4184-01 COSM4050850 c.1497C>T p.Y499Y Substitution - coding silent 14:44931388-44931388 - T3048 COSM4696510 c.1030C>T p.R344C Substitution - Missense 14:44934428-44934428 - TCGA-HU-A4H4-01 COSM4050848 c.1654A>C p.T552P Substitution - Missense 14:44929090-44929090 - TCGA-B5-A0K8-01 COSM955757 c.102C>G p.L34L Substitution - coding silent 14:44945827-44945827 - T3091 COSM4696512 c.173C>T p.P58L Substitution - Missense 14:44945756-44945756 - ESCC-098T COSM3936518 c.1039G>A p.V347I Substitution - Missense 14:44934419-44934419 - CSCC-18-T COSM4527288 c.1452G>T p.V484V Substitution - coding silent 14:44931433-44931433 - TCGA-AX-A05Z-01 COSM955749 c.1165T>G p.Y389D Substitution - Missense 14:44934293-44934293 - TCGA-AX-A0J0-01 COSM955758 c.97G>A p.E33K Substitution - Missense 14:44945832-44945832 - TCGA-B7-5818-01 COSM4050857 c.306G>A p.Q102Q Substitution - coding silent 14:44945623-44945623 - T1743 COSM4696511 c.854T>G p.L285R Substitution - Missense 14:44945075-44945075 - S01861 COSM5671082 c.1337T>A p.M446K Substitution - Missense 14:44934121-44934121 - 585260 COSM321281 c.1395G>T p.M465I Substitution - Missense 14:44931490-44931490 - TCGA-EK-A3GK-01 COSM4853312 c.451G>A p.D151N Substitution - Missense 14:44945478-44945478 - T2269 COSM4696513 c.118C>T p.R40* Substitution - Nonsense 14:44945811-44945811 - TCGA-AA-A010-01 COSM282280 c.1103C>A p.S368Y Substitution - Missense 14:44934355-44934355 - 585260 COSM321280 c.1396G>T p.A466S Substitution - Missense 14:44931489-44931489 - TCGA-AP-A059-01 COSM955753 c.1013G>T p.G338V Substitution - Missense 14:44934445-44934445 - TCGA-BR-8363-01 COSM4050851 c.872A>G p.K291R Substitution - Missense 14:44945057-44945057 - TCGA-DD-A39X-01 COSM4940801 c.163A>G p.S55G Substitution - Missense 14:44945766-44945766 - TCGA-BG-A18B-01 COSM955751 c.1116G>A p.M372I Substitution - Missense 14:44934342-44934342 - PD4000a COSM162029 c.662T>A p.L221Q Substitution - Missense 14:44945267-44945267 - T155 COSM1176685 c.733C>T p.R245C Substitution - Missense 14:44945196-44945196 - HCC057T COSM5807848 c.1657T>A p.W553R Substitution - Missense 14:44929087-44929087 - TCGA-B5-A11N-01 COSM955759 c.85C>T p.R29C Substitution - Missense 14:44945844-44945844 - ESCC_52 COSM5631141 c.1001A>G p.Y334C Substitution - Missense 14:44934457-44934457 - 587228 COSM1212631 c.1688G>A p.R563H Substitution - Missense 14:44929056-44929056 - TCGA-A5-A0GP-01 COSM955754 c.830G>A p.R277Q Substitution - Missense 14:44945099-44945099 - OSCC-GB_00490111 COSM3718473 c.231G>A p.E77E Substitution - coding silent 14:44945698-44945698 - S00943 COSM312373 c.1594G>C p.G532R Substitution - Missense 14:44929150-44929150 - TCGA-A6-6781-01 COSM5094327 c.87C>T p.R29R Substitution - coding silent 14:44945842-44945842 - TCGA-33-6737-01 COSM698588 c.268G>T p.V90L Substitution - Missense 14:44945661-44945661 - HCC103 COSM3706281 c.393A>G p.Q131Q Substitution - coding silent 14:44945536-44945536 - TCGA-HU-8602-01 COSM2197223 c.637C>T p.R213C Substitution - Missense 14:44945292-44945292 - TCGA-AP-A056-01 COSM955755 c.165C>T p.S55S Substitution - coding silent 14:44945764-44945764 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.550817;Hs.550820;Hs.550830;Hs.550832;Hs.550840;Hs.550843;Hs.550850;Hs.550858;Hs.550859;Hs.550863;Hs.550867;Hs.550868;Hs.550870;Hs.550888;Hs.550905;Hs.550906 14q21.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.W413G c.1237T>G 14 45403424 CM A - Frameshift p.E19Nfs*7 c.54delT 14 45415078 LGG A - Frameshift p.Y200Mfs*3 c.598delT 14 45414534 STAD A G Synonymous p.N541N c.1623T>C 14 45398324 STAD A G Synonymous p.S292S c.876T>C 14 45414256 CM A T Missense p.L221Q c.662T>A 14 45414470 BRCA C A Missense p.A390S c.1168G>T 14 45403493 SCLC C A Missense p.A466S c.1396G>T 14 45400692 SCLC C A Missense p.M465I c.1395G>T 14 45400693 SCLC C A Missense p.R344L c.1031G>T 14 45403630 HNSC C A Missense p.R40L c.119G>T 14 45415013 GBM C A Missense p.V90L c.268G>T 14 45414864 LUSC C A Synonymous p.L121L c.363G>T 14 45414769 LUSC C A Synonymous p.V483V c.1449G>T 14 45400639 LUAD C - Frameshift p.G135Vfs*56 c.404delG 14 45414728 LUAD C G Missense p.E175Q c.523G>C 14 45414609 HNSC C G Missense p.G346A c.1037G>C 14 45403624 LUSC C G Missense p.G532R c.1594G>C 14 45398353 SCLC C G Missense p.R516T c.1547G>C 14 45400541 LUSC C T Missense p.G338S c.1012G>A 14 45403649 ESCA C T Missense p.M275I c.825G>A 14 45414307 HNSC C T Missense p.M372I c.1116G>A 14 45403545 UCEC C T Missense p.R245H c.734G>A 14 45414398 BRCA C T Missense p.R277Q c.830G>A 14 45414302 UCEC C T Missense p.R344H c.1031G>A 14 45403630 UCEC C T Synonymous p.L254L c.762G>A 14 45414370 BLCA C T Synonymous p.Q102Q c.306G>A 14 45414826 STAD G C Missense p.L28V c.82C>G 14 45415050 LUAD G C Synonymous p.L34L c.102C>G 14 45415030 UCEC G T Missense p.H47N c.139C>A 14 45414993 UCEC T C 3-UTRSNV . c.1713+440A>G 14 45397794 DLBCL T C Missense p.I470V c.1408A>G 14 45400680 LUSC T C Synonymous p.A201A c.603A>G 14 45414529 STAD T C Synonymous p.G289G c.867A>G 14 45414265 HNSC