Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 5 95067591 95067591 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr5:95067591G>A c.31G>A c.(31-33)Gag>Aag p.E11K BLCA 5 95067677 95067677 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr5:95067677G>C c.117G>C c.(115-117)gaG>gaC p.E39D BLCA 5 95084081 95084081 + Missense_Mutation SNP A A G TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr5:95084081A>G c.460A>G c.(460-462)Agc>Ggc p.S154G BLCA 5 95091439 95091439 + Nonsense_Mutation SNP C C G TCGA-GD-A6C6-01A-21D-A31L-08 TCGA-GD-A6C6-10A-01D-A31J-08 g.chr5:95091439C>G c.1022C>G c.(1021-1023)tCa>tGa p.S341* BLCA 5 95099235 95099235 + Missense_Mutation SNP G G A TCGA-GC-A6I3-01A-11D-A31L-08 TCGA-GC-A6I3-10A-01D-A31J-08 g.chr5:95099235G>A c.1072G>A c.(1072-1074)Gaa>Aaa p.E358K BLCA 5 95116019 95116019 + Missense_Mutation SNP T T G TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr5:95116019T>G c.1346T>G c.(1345-1347)tTt>tGt p.F449C BLCA 5 95116086 95116086 + Frame_Shift_Del DEL C C - TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 g.chr5:95116086delC c.1413delC c.(1411-1413)ttcfs p.F471fs BLCA 5 95124488 95124488 + Nonsense_Mutation SNP C C G TCGA-4Z-AA89-01A-11D-A391-08 TCGA-4Z-AA89-10A-01D-A394-08 g.chr5:95124488C>G c.1646C>G c.(1645-1647)tCa>tGa p.S549* BRCA 5 95084070 95084070 + Nonsense_Mutation SNP C C G TCGA-C8-A274-01A-11D-A16D-09 TCGA-C8-A274-10A-01D-A16D-09 g.chr5:95084070C>G c.449C>G c.(448-450)tCa>tGa p.S150* BRCA 5 95128768 95128768 + Missense_Mutation SNP G G A TCGA-GM-A2D9-01A-11D-A18P-09 TCGA-GM-A2D9-11A-42D-A18P-09 g.chr5:95128768G>A c.1726G>A c.(1726-1728)Gaa>Aaa p.E576K BRCA 5 95128768 95128768 + Missense_Mutation SNP G G C TCGA-AO-A0J9-01A-11W-A050-09 TCGA-AO-A0J9-10A-01W-A055-09 g.chr5:95128768G>C c.1726G>C c.(1726-1728)Gaa>Caa p.E576Q CESC 5 95067706 95067706 + Missense_Mutation SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 g.chr5:95067706C>T c.146C>T c.(145-147)aCg>aTg p.T49M CESC 5 95067751 95067751 + Missense_Mutation SNP G G T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 g.chr5:95067751G>T c.191G>T c.(190-192)gGg>gTg p.G64V CESC 5 95067758 95067758 + Silent SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 g.chr5:95067758C>G c.198C>G c.(196-198)gtC>gtG p.V66V CESC 5 95128826 95128826 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr5:95128826C>T c.1784C>T c.(1783-1785)gCg>gTg p.A595V CHOL 5 95099223 95099223 + Missense_Mutation SNP T T G TCGA-4G-AAZT-01A-11D-A417-09 TCGA-4G-AAZT-10A-01D-A41A-09 g.chr5:95099223T>G c.1060T>G c.(1060-1062)Tgg>Ggg p.W354G COAD 5 95067647 95067647 + Silent SNP G G C TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr5:95067647G>C c.87G>C c.(85-87)ctG>ctC p.L29L COAD 5 95067775 95067775 + Missense_Mutation SNP A A G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr5:95067775A>G c.215A>G c.(214-216)gAc>gGc p.D72G COAD 5 95072624 95072624 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:95072624G>A c.260G>A c.(259-261)cGa>cAa p.R87Q COAD 5 95119656 95119656 + Frame_Shift_Del DEL A A - TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr5:95119656delA c.1612delA c.(1612-1614)aaafs p.K539fs COAD 5 95124549 95124549 + Missense_Mutation SNP T T G TCGA-AA-3678-01A-01W-0900-09 TCGA-AA-3678-10A-01W-0900-09 g.chr5:95124549T>G c.1707T>G c.(1705-1707)ttT>ttG p.F569L COADREAD 5 95067647 95067647 + Silent SNP G G C TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr5:95067647G>C c.87G>C c.(85-87)ctG>ctC p.L29L COADREAD 5 95067775 95067775 + Missense_Mutation SNP A A G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr5:95067775A>G c.215A>G c.(214-216)gAc>gGc p.D72G COADREAD 5 95072624 95072624 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:95072624G>A c.260G>A c.(259-261)cGa>cAa p.R87Q COADREAD 5 95091379 95091379 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:95091379C>A c.962C>A c.(961-963)tCt>tAt p.S321Y COADREAD 5 95099241 95099241 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:95099241G>T c.1078G>T c.(1078-1080)Gat>Tat p.D360Y COADREAD 5 95119656 95119656 + Frame_Shift_Del DEL A A - TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr5:95119656delA c.1612delA c.(1612-1614)aaafs p.K539fs COADREAD 5 95124549 95124549 + Missense_Mutation SNP T T G TCGA-AA-3678-01A-01W-0900-09 TCGA-AA-3678-10A-01W-0900-09 g.chr5:95124549T>G c.1707T>G c.(1705-1707)ttT>ttG p.F569L COADREAD 5 95128802 95128802 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:95128802C>T c.1760C>T c.(1759-1761)tCg>tTg p.S587L ESCA 5 95103749 95103749 + Splice_Site SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 g.chr5:95103749G>T c.e8-1 ESCA 5 95128791 95128791 + Missense_Mutation SNP C C A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 g.chr5:95128791C>A c.1749C>A c.(1747-1749)caC>caA p.H583Q GBMLGG 5 95088046 95088046 + Missense_Mutation SNP A A C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 g.chr5:95088046A>C c.674A>C c.(673-675)gAa>gCa p.E225A GBMLGG 5 95091155 95091155 + Missense_Mutation SNP C C G TCGA-DH-A7UU-01A-12D-A34A-08 TCGA-DH-A7UU-10A-01D-A34A-08 g.chr5:95091155C>G c.738C>G c.(736-738)aaC>aaG p.N246K GBMLGG 5 95119548 95119548 + Nonsense_Mutation SNP C C T TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 g.chr5:95119548C>T c.1504C>T c.(1504-1506)Caa>Taa p.Q502* HNSC 5 95072637 95072637 + Silent SNP G G C TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr5:95072637G>C c.273G>C c.(271-273)ggG>ggC p.G91G HNSC 5 95087996 95087996 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr5:95087996G>A c.624G>A c.(622-624)aaG>aaA p.K208K HNSC 5 95103849 95103849 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 g.chr5:95103849G>A c.1261G>A c.(1261-1263)Gat>Aat p.D421N KIPAN 5 95119657 95119657 + Missense_Mutation SNP A A C TCGA-2Z-A9JS-01A-21D-A42J-10 TCGA-2Z-A9JS-10A-01D-A42M-10 g.chr5:95119657A>C c.1613A>C c.(1612-1614)aAa>aCa p.K538T KIRP 5 95119657 95119657 + Missense_Mutation SNP A A C TCGA-2Z-A9JS-01A-21D-A42J-10 TCGA-2Z-A9JS-10A-01D-A42M-10 g.chr5:95119657A>C c.1613A>C c.(1612-1614)aAa>aCa p.K538T LGG 5 95088046 95088046 + Missense_Mutation SNP A A C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 g.chr5:95088046A>C c.674A>C c.(673-675)gAa>gCa p.E225A LGG 5 95091155 95091155 + Missense_Mutation SNP C C G TCGA-DH-A7UU-01A-12D-A34A-08 TCGA-DH-A7UU-10A-01D-A34A-08 g.chr5:95091155C>G c.738C>G c.(736-738)aaC>aaG p.N246K LGG 5 95119548 95119548 + Nonsense_Mutation SNP C C T TCGA-FG-5962-01B-11D-1893-08 TCGA-FG-5962-10A-01D-1893-08 g.chr5:95119548C>T c.1504C>T c.(1504-1506)Caa>Taa p.Q502* LIHC 5 95067705 95067705 + Missense_Mutation SNP A A G TCGA-UB-AA0V-01A-11D-A382-10 TCGA-UB-AA0V-10A-01D-A385-10 g.chr5:95067705A>G c.145A>G c.(145-147)Acg>Gcg p.T49A LIHC 5 95091309 95091309 + Missense_Mutation SNP A A G TCGA-CC-5258-01A-01D-A12Z-10 TCGA-CC-5258-10A-01D-A12Z-10 g.chr5:95091309A>G c.892A>G c.(892-894)Atc>Gtc p.I298V LIHC 5 95099309 95099309 + Frame_Shift_Del DEL A A - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr5:95099309delA c.1146delA c.(1144-1146)ttafs p.L382fs LUAD 5 95067575 95067575 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr5:95067575C>T c.15C>T c.(13-15)atC>atT p.I5I LUAD 5 95072761 95072761 + Missense_Mutation SNP G G T TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr5:95072761G>T c.397G>T c.(397-399)Gtt>Ttt p.V133F LUAD 5 95091260 95091260 + Silent SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 g.chr5:95091260C>T c.843C>T c.(841-843)ttC>ttT p.F281F LUAD 5 95099311 95099311 + Missense_Mutation SNP A A G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 g.chr5:95099311A>G c.1148A>G c.(1147-1149)aAa>aGa p.K383R LUAD 5 95103838 95103838 + Missense_Mutation SNP C C A TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr5:95103838C>A c.1250C>A c.(1249-1251)cCg>cAg p.P417Q LUSC 5 95087983 95087983 + Missense_Mutation SNP G G A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 g.chr5:95087983G>A c.611G>A c.(610-612)aGt>aAt p.S204N OV 5 95067664 95067664 + Missense_Mutation SNP T T C TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 g.chr5:95067664T>C c.104T>C c.(103-105)gTc>gCc p.V35A OV 5 95088016 95088016 + Missense_Mutation SNP C C G TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 g.chr5:95088016C>G c.644C>G c.(643-645)tCc>tGc p.S215C PAAD 5 95072759 95072759 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:95072759C>T c.395C>T c.(394-396)gCt>gTt p.A132V PAAD 5 95091253 95091253 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:95091253A>C c.836A>C c.(835-837)cAt>cCt p.H279P PRAD 5 95067675 95067675 + Nonsense_Mutation SNP G G T TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 g.chr5:95067675G>T c.115G>T c.(115-117)Gag>Tag p.E39* PRAD 5 95091127 95091127 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:95091127C>T c.710C>T c.(709-711)gCg>gTg p.A237V PRAD 5 95091242 95091242 + Silent SNP C C T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr5:95091242C>T c.825C>T c.(823-825)tgC>tgT p.C275C PRAD 5 95091344 95091344 + Missense_Mutation SNP C C G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:95091344C>G c.927C>G c.(925-927)aaC>aaG p.N309K PRAD 5 95128826 95128826 + Missense_Mutation SNP C C T TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 g.chr5:95128826C>T c.1784C>T c.(1783-1785)gCg>gTg p.A595V READ 5 95091379 95091379 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:95091379C>A c.962C>A c.(961-963)tCt>tAt p.S321Y READ 5 95099241 95099241 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:95099241G>T c.1078G>T c.(1078-1080)Gat>Tat p.D360Y READ 5 95128802 95128802 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:95128802C>T c.1760C>T c.(1759-1761)tCg>tTg p.S587L SKCM 5 95091130 95091130 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr5:95091130C>T c.713C>T c.(712-714)tCa>tTa p.S238L SKCM 5 95116051 95116051 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr5:95116051C>T c.1378C>T c.(1378-1380)Ctg>Ttg p.L460L SKCM 5 95119555 95119555 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr5:95119555C>T c.1511C>T c.(1510-1512)tCc>tTc p.S504F SKCM 5 95124505 95124505 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr5:95124505T>G c.1663T>G c.(1663-1665)Ttc>Gtc p.F555V

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 5 95067591 95067591 single base substitution G A exon_variant BLCA-US 5 95067591 95067591 single base substitution G A missense_variant E11K 31G>A BLCA-US 5 95067591 95067591 single base substitution G A missense_variant E17K 49G>A BLCA-US 5 95067591 95067591 single base substitution G A upstream_gene_variant BLCA-US 5 95067677 95067677 single base substitution G C exon_variant BLCA-US 5 95067677 95067677 single base substitution G C missense_variant E39D 117G>C BLCA-US 5 95067677 95067677 single base substitution G C missense_variant E45D 135G>C BLCA-US 5 95067677 95067677 single base substitution G C upstream_gene_variant BLCA-US 5 95116086 95116086 deletion of <=200bp C - exon_variant BLCA-US 5 95116086 95116086 deletion of <=200bp C - frameshift_variant F102 BLCA-US 5 95116086 95116086 deletion of <=200bp C - frameshift_variant F471 BLCA-US 5 95116086 95116086 deletion of <=200bp C - frameshift_variant F52 BLCA-US 5 95116086 95116086 deletion of <=200bp C - upstream_gene_variant BLCA-US 5 95158310 95158310 single base substitution G C intron_variant BOCA-FR 5 95152652 95152652 single base substitution T C intron_variant BRCA-EU 5 95046399 95046399 single base substitution C T upstream_gene_variant BRCA-EU 5 95046523 95046523 single base substitution C T upstream_gene_variant BRCA-EU 5 95046728 95046728 single base substitution T C upstream_gene_variant BRCA-EU 5 95046786 95046786 single base substitution C A upstream_gene_variant BRCA-EU 5 95048006 95048006 single base substitution A G upstream_gene_variant BRCA-EU 5 95049271 95049271 single base substitution G A exon_variant BRCA-EU 5 95049271 95049271 single base substitution G A upstream_gene_variant BRCA-EU 5 95049823 95049823 single base substitution G A intron_variant BRCA-EU 5 95049823 95049823 single base substitution G A upstream_gene_variant BRCA-EU 5 95050355 95050355 single base substitution C T intron_variant BRCA-EU 5 95050355 95050355 single base substitution C T upstream_gene_variant BRCA-EU 5 95056628 95056628 single base substitution G C intron_variant BRCA-EU 5 95059179 95059179 single base substitution G A intron_variant BRCA-EU 5 95059744 95059744 single base substitution C T intron_variant BRCA-EU 5 95060092 95060092 single base substitution T C intron_variant BRCA-EU 5 95060294 95060294 single base substitution T C intron_variant BRCA-EU 5 95060701 95060701 single base substitution G C intron_variant BRCA-EU 5 95060975 95060975 single base substitution G A intron_variant BRCA-EU 5 95061315 95061315 single base substitution G C intron_variant BRCA-EU 5 95062240 95062240 single base substitution C G intron_variant BRCA-EU 5 95062240 95062240 single base substitution C G upstream_gene_variant BRCA-EU 5 95062338 95062338 single base substitution T C intron_variant BRCA-EU 5 95062338 95062338 single base substitution T C upstream_gene_variant BRCA-EU 5 95063588 95063588 single base substitution C T intron_variant BRCA-EU 5 95063588 95063588 single base substitution C T upstream_gene_variant BRCA-EU 5 95065910 95065910 deletion of <=200bp T - intron_variant BRCA-EU 5 95065910 95065910 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 95067839 95067839 single base substitution T C downstream_gene_variant BRCA-EU 5 95067839 95067839 single base substitution T C intron_variant BRCA-EU 5 95067839 95067839 single base substitution T C synonymous_variant P93P 279T>C BRCA-EU 5 95067839 95067839 single base substitution T C upstream_gene_variant BRCA-EU 5 95068037 95068037 single base substitution C G 3_prime_UTR_variant BRCA-EU 5 95068037 95068037 single base substitution C G downstream_gene_variant BRCA-EU 5 95068037 95068037 single base substitution C G intron_variant BRCA-EU 5 95068037 95068037 single base substitution C G upstream_gene_variant BRCA-EU 5 95068074 95068075 deletion of <=200bp TG - 3_prime_UTR_variant BRCA-EU 5 95068074 95068075 deletion of <=200bp TG - downstream_gene_variant BRCA-EU 5 95068074 95068075 deletion of <=200bp TG - intron_variant BRCA-EU 5 95068074 95068075 deletion of <=200bp TG - upstream_gene_variant BRCA-EU 5 95069838 95069838 single base substitution G A downstream_gene_variant BRCA-EU 5 95069838 95069838 single base substitution G A intron_variant BRCA-EU 5 95069838 95069838 single base substitution G A upstream_gene_variant BRCA-EU 5 95070470 95070470 single base substitution C G downstream_gene_variant BRCA-EU 5 95070470 95070470 single base substitution C G intron_variant BRCA-EU 5 95070470 95070470 single base substitution C G upstream_gene_variant BRCA-EU 5 95070861 95070861 single base substitution G A downstream_gene_variant BRCA-EU 5 95070861 95070861 single base substitution G A intron_variant BRCA-EU 5 95070861 95070861 single base substitution G A upstream_gene_variant BRCA-EU 5 95076447 95076447 single base substitution C T downstream_gene_variant BRCA-EU 5 95076447 95076447 single base substitution C T intron_variant BRCA-EU 5 95078491 95078491 single base substitution C G intron_variant BRCA-EU 5 95078619 95078619 single base substitution A T intron_variant BRCA-EU 5 95078751 95078751 single base substitution G C intron_variant BRCA-EU 5 95079092 95079092 single base substitution A G intron_variant BRCA-EU 5 95079291 95079291 single base substitution G C intron_variant BRCA-EU 5 95079533 95079533 single base substitution C G intron_variant BRCA-EU 5 95080126 95080126 single base substitution C T intron_variant BRCA-EU 5 95081270 95081270 single base substitution G C intron_variant BRCA-EU 5 95084074 95084074 single base substitution C A exon_variant BRCA-EU 5 95084074 95084074 single base substitution C A missense_variant D151E 453C>A BRCA-EU 5 95084074 95084074 single base substitution C A missense_variant D157E 471C>A BRCA-EU 5 95084580 95084580 single base substitution G C downstream_gene_variant BRCA-EU 5 95084580 95084580 single base substitution G C intron_variant BRCA-EU 5 95085286 95085286 deletion of <=200bp G - downstream_gene_variant BRCA-EU 5 95085286 95085286 deletion of <=200bp G - intron_variant BRCA-EU 5 95085321 95085321 single base substitution G C downstream_gene_variant BRCA-EU 5 95085321 95085321 single base substitution G C intron_variant BRCA-EU 5 95086600 95086600 single base substitution C T downstream_gene_variant BRCA-EU 5 95086600 95086600 single base substitution C T intron_variant BRCA-EU 5 95087220 95087220 single base substitution G C downstream_gene_variant BRCA-EU 5 95087220 95087220 single base substitution G C intron_variant BRCA-EU 5 95089283 95089283 single base substitution A G downstream_gene_variant BRCA-EU 5 95089283 95089283 single base substitution A G intron_variant BRCA-EU 5 95090001 95090001 single base substitution C T downstream_gene_variant BRCA-EU 5 95090001 95090001 single base substitution C T intron_variant BRCA-EU 5 95090633 95090633 single base substitution C T downstream_gene_variant BRCA-EU 5 95090633 95090633 single base substitution C T intron_variant BRCA-EU 5 95090936 95090936 single base substitution C G downstream_gene_variant BRCA-EU 5 95090936 95090936 single base substitution C G intron_variant BRCA-EU 5 95091637 95091637 single base substitution T C downstream_gene_variant BRCA-EU 5 95091637 95091637 single base substitution T C exon_variant BRCA-EU 5 95091637 95091637 single base substitution T C intron_variant BRCA-EU 5 95092670 95092670 single base substitution T G downstream_gene_variant BRCA-EU 5 95092670 95092670 single base substitution T G intron_variant BRCA-EU 5 95094113 95094113 single base substitution A C downstream_gene_variant BRCA-EU 5 95094113 95094113 single base substitution A C intron_variant BRCA-EU 5 95095579 95095579 single base substitution T C downstream_gene_variant BRCA-EU 5 95095579 95095579 single base substitution T C intron_variant BRCA-EU 5 95095663 95095663 single base substitution A T downstream_gene_variant BRCA-EU 5 95095663 95095663 single base substitution A T intron_variant BRCA-EU 5 95098893 95098893 single base substitution A T intron_variant BRCA-EU 5 95098893 95098893 single base substitution A T upstream_gene_variant BRCA-EU 5 95102676 95102676 single base substitution A G downstream_gene_variant BRCA-EU 5 95102676 95102676 single base substitution A G intron_variant BRCA-EU 5 95102676 95102676 single base substitution A G upstream_gene_variant BRCA-EU 5 95103454 95103454 single base substitution C T downstream_gene_variant BRCA-EU 5 95103454 95103454 single base substitution C T intron_variant BRCA-EU 5 95103454 95103454 single base substitution C T upstream_gene_variant BRCA-EU 5 95104441 95104441 single base substitution C T intron_variant BRCA-EU 5 95104541 95104541 single base substitution G A intron_variant BRCA-EU 5 95104620 95104620 single base substitution C T intron_variant BRCA-EU 5 95105502 95105502 single base substitution A G intron_variant BRCA-EU 5 95106351 95106351 single base substitution A G intron_variant BRCA-EU 5 95106932 95106932 single base substitution G T intron_variant BRCA-EU 5 95107182 95107182 single base substitution G T intron_variant BRCA-EU 5 95108193 95108193 deletion of <=200bp T - intron_variant BRCA-EU 5 95108251 95108251 single base substitution C T intron_variant BRCA-EU 5 95109548 95109548 single base substitution C T intron_variant BRCA-EU 5 95109839 95109839 single base substitution A T intron_variant BRCA-EU 5 95109858 95109858 deletion of <=200bp T - intron_variant BRCA-EU 5 95110668 95110668 single base substitution T C intron_variant BRCA-EU 5 95110722 95110722 single base substitution G A intron_variant BRCA-EU 5 95110722 95110722 single base substitution G A upstream_gene_variant BRCA-EU 5 95111207 95111207 insertion of <=200bp - A intron_variant BRCA-EU 5 95111207 95111207 insertion of <=200bp - A upstream_gene_variant BRCA-EU 5 95112786 95112786 deletion of <=200bp A - intron_variant BRCA-EU 5 95112786 95112786 deletion of <=200bp A - upstream_gene_variant BRCA-EU 5 95114802 95114802 single base substitution A T intron_variant BRCA-EU 5 95114802 95114802 single base substitution A T upstream_gene_variant BRCA-EU 5 95115541 95115541 single base substitution G T intron_variant BRCA-EU 5 95115541 95115541 single base substitution G T upstream_gene_variant BRCA-EU 5 95116877 95116877 single base substitution C T intron_variant BRCA-EU 5 95116877 95116877 single base substitution C T upstream_gene_variant BRCA-EU 5 95116978 95116978 single base substitution G C intron_variant BRCA-EU 5 95116978 95116978 single base substitution G C upstream_gene_variant BRCA-EU 5 95118279 95118279 single base substitution G A intron_variant BRCA-EU 5 95118279 95118279 single base substitution G A upstream_gene_variant BRCA-EU 5 95118501 95118501 single base substitution G A intron_variant BRCA-EU 5 95118501 95118501 single base substitution G A upstream_gene_variant BRCA-EU 5 95118630 95118630 deletion of <=200bp A - intron_variant BRCA-EU 5 95118630 95118630 deletion of <=200bp A - upstream_gene_variant BRCA-EU 5 95120280 95120280 single base substitution A G downstream_gene_variant BRCA-EU 5 95120280 95120280 single base substitution A G intron_variant BRCA-EU 5 95120280 95120280 single base substitution A G upstream_gene_variant BRCA-EU 5 95120527 95120527 single base substitution G A downstream_gene_variant BRCA-EU 5 95120527 95120527 single base substitution G A intron_variant BRCA-EU 5 95120527 95120527 single base substitution G A upstream_gene_variant BRCA-EU 5 95122688 95122688 single base substitution A G downstream_gene_variant BRCA-EU 5 95122688 95122688 single base substitution A G intron_variant BRCA-EU 5 95122688 95122688 single base substitution A G upstream_gene_variant BRCA-EU 5 95127871 95127871 single base substitution C G downstream_gene_variant BRCA-EU 5 95127871 95127871 single base substitution C G intron_variant BRCA-EU 5 95129377 95129377 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 95129377 95129377 single base substitution C T downstream_gene_variant BRCA-EU 5 95129377 95129377 single base substitution C T intron_variant BRCA-EU 5 95131094 95131094 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 95131094 95131094 single base substitution G A downstream_gene_variant BRCA-EU 5 95131094 95131094 single base substitution G A intron_variant BRCA-EU 5 95131388 95131388 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 95131388 95131388 single base substitution G A downstream_gene_variant BRCA-EU 5 95131388 95131388 single base substitution G A intron_variant BRCA-EU 5 95131802 95131802 single base substitution G C 3_prime_UTR_variant BRCA-EU 5 95131802 95131802 single base substitution G C downstream_gene_variant BRCA-EU 5 95131802 95131802 single base substitution G C intron_variant BRCA-EU 5 95135119 95135119 single base substitution T C downstream_gene_variant BRCA-EU 5 95135119 95135119 single base substitution T C intron_variant BRCA-EU 5 95136624 95136624 single base substitution G A downstream_gene_variant BRCA-EU 5 95136624 95136624 single base substitution G A intron_variant BRCA-EU 5 95137400 95137400 single base substitution A G intron_variant BRCA-EU 5 95138013 95138013 single base substitution C T intron_variant BRCA-EU 5 95138907 95138907 single base substitution C G intron_variant BRCA-EU 5 95138926 95138926 single base substitution G C intron_variant BRCA-EU 5 95140839 95140839 single base substitution G A intron_variant BRCA-EU 5 95141906 95141906 single base substitution A C intron_variant BRCA-EU 5 95143309 95143309 single base substitution C G intron_variant BRCA-EU 5 95143310 95143310 single base substitution A G intron_variant BRCA-EU 5 95143503 95143504 deletion of <=200bp GC - intron_variant BRCA-EU 5 95144145 95144145 single base substitution G A intron_variant BRCA-EU 5 95144249 95144249 single base substitution G A intron_variant BRCA-EU 5 95145676 95145676 single base substitution G C intron_variant BRCA-EU 5 95146109 95146109 single base substitution A G intron_variant BRCA-EU 5 95146404 95146405 deletion of <=200bp AG - intron_variant BRCA-EU 5 95146473 95146482 deletion of <=200bp GAGTTTTAGT - intron_variant BRCA-EU 5 95147105 95147105 single base substitution G T intron_variant BRCA-EU 5 95147207 95147207 single base substitution G C intron_variant BRCA-EU 5 95147218 95147218 single base substitution A C intron_variant BRCA-EU 5 95147260 95147260 single base substitution A G intron_variant BRCA-EU 5 95147611 95147611 single base substitution C G intron_variant BRCA-EU 5 95148198 95148198 single base substitution C G intron_variant BRCA-EU 5 95148562 95148562 single base substitution T G intron_variant BRCA-EU 5 95148718 95148718 single base substitution C T intron_variant BRCA-EU 5 95150126 95150126 single base substitution G A intron_variant BRCA-EU 5 95153890 95153890 single base substitution C G intron_variant BRCA-EU 5 95155183 95155183 single base substitution G C intron_variant BRCA-EU 5 95155475 95155475 single base substitution C T intron_variant BRCA-EU 5 95155495 95155495 single base substitution C T intron_variant BRCA-EU 5 95155591 95155591 single base substitution G C intron_variant BRCA-EU 5 95155746 95155746 deletion of <=200bp A - intron_variant BRCA-EU 5 95159008 95159008 single base substitution C G intron_variant BRCA-EU 5 95159127 95159127 single base substitution C A intron_variant BRCA-EU 5 95159554 95159554 single base substitution G A synonymous_variant V19V 57G>A BRCA-EU 5 95160729 95160729 single base substitution G A downstream_gene_variant BRCA-EU 5 95160781 95160781 single base substitution G C downstream_gene_variant BRCA-EU 5 95161058 95161058 single base substitution C A downstream_gene_variant BRCA-EU 5 95161687 95161687 single base substitution C T downstream_gene_variant BRCA-EU 5 95163124 95163124 single base substitution C G downstream_gene_variant BRCA-EU 5 95163311 95163311 single base substitution C T downstream_gene_variant BRCA-EU 5 95163473 95163473 single base substitution C G downstream_gene_variant BRCA-EU 5 95163944 95163944 single base substitution G A downstream_gene_variant BRCA-FR 5 95046399 95046399 single base substitution C T upstream_gene_variant BRCA-FR 5 95046523 95046523 single base substitution C T upstream_gene_variant BRCA-FR 5 95049271 95049271 single base substitution G A exon_variant BRCA-FR 5 95049271 95049271 single base substitution G A upstream_gene_variant BRCA-FR 5 95059179 95059179 single base substitution G A intron_variant BRCA-FR 5 95062240 95062240 single base substitution C G intron_variant BRCA-FR 5 95062240 95062240 single base substitution C G upstream_gene_variant BRCA-FR 5 95070242 95070242 single base substitution A G downstream_gene_variant BRCA-FR 5 95070242 95070242 single base substitution A G intron_variant BRCA-FR 5 95070242 95070242 single base substitution A G upstream_gene_variant BRCA-FR 5 95079291 95079291 single base substitution G C intron_variant BRCA-FR 5 95085321 95085321 single base substitution G C downstream_gene_variant BRCA-FR 5 95085321 95085321 single base substitution G C intron_variant BRCA-FR 5 95087220 95087220 single base substitution G C downstream_gene_variant BRCA-FR 5 95087220 95087220 single base substitution G C intron_variant BRCA-FR 5 95095281 95095281 single base substitution G T downstream_gene_variant BRCA-FR 5 95095281 95095281 single base substitution G T intron_variant BRCA-FR 5 95099877 95099877 single base substitution G A downstream_gene_variant BRCA-FR 5 95099877 95099877 single base substitution G A intron_variant BRCA-FR 5 95099877 95099877 single base substitution G A upstream_gene_variant BRCA-FR 5 95103839 95103839 single base substitution G A downstream_gene_variant BRCA-FR 5 95103839 95103839 single base substitution G A synonymous_variant P417P 1251G>A BRCA-FR 5 95103839 95103839 single base substitution G A synonymous_variant P48P 144G>A BRCA-FR 5 95103839 95103839 single base substitution G A upstream_gene_variant BRCA-FR 5 95104601 95104601 single base substitution G T intron_variant BRCA-FR 5 95109839 95109839 single base substitution A T intron_variant BRCA-FR 5 95114802 95114802 single base substitution A T intron_variant BRCA-FR 5 95114802 95114802 single base substitution A T upstream_gene_variant BRCA-FR 5 95115099 95115099 single base substitution G C intron_variant BRCA-FR 5 95115099 95115099 single base substitution G C upstream_gene_variant BRCA-FR 5 95145676 95145676 single base substitution G C intron_variant BRCA-FR 5 95147611 95147611 single base substitution C G intron_variant BRCA-FR 5 95149225 95149225 single base substitution A C intron_variant BRCA-FR 5 95163944 95163944 single base substitution G A downstream_gene_variant BRCA-UK 5 95070367 95070367 single base substitution G C downstream_gene_variant BRCA-UK 5 95070367 95070367 single base substitution G C intron_variant BRCA-UK 5 95070367 95070367 single base substitution G C upstream_gene_variant BRCA-UK 5 95143309 95143309 single base substitution C G intron_variant BRCA-UK 5 95143310 95143310 single base substitution A G intron_variant BRCA-UK 5 95147218 95147218 single base substitution A C intron_variant BRCA-UK 5 95147260 95147260 single base substitution A G intron_variant BRCA-UK 5 95149245 95149245 single base substitution G C intron_variant BRCA-UK 5 95158723 95158723 single base substitution G A intron_variant BRCA-US 5 95084070 95084070 single base substitution C G exon_variant BRCA-US 5 95084070 95084070 single base substitution C G stop_gained S150* 449C>G BRCA-US 5 95084070 95084070 single base substitution C G stop_gained S156* 467C>G BRCA-US 5 95128768 95128768 single base substitution G A downstream_gene_variant BRCA-US 5 95128768 95128768 single base substitution G A intron_variant BRCA-US 5 95128768 95128768 single base substitution G A missense_variant E207K 619G>A BRCA-US 5 95128768 95128768 single base substitution G A missense_variant E576K 1726G>A BRCA-US 5 95128768 95128768 single base substitution G A missense_variant E78K 232G>A BRCA-US 5 95128768 95128768 single base substitution G A synonymous_variant K21K 63G>A BRCA-US 5 95128768 95128768 single base substitution G C downstream_gene_variant BRCA-US 5 95128768 95128768 single base substitution G C intron_variant BRCA-US 5 95128768 95128768 single base substitution G C missense_variant E207Q 619G>C BRCA-US 5 95128768 95128768 single base substitution G C missense_variant E576Q 1726G>C BRCA-US 5 95128768 95128768 single base substitution G C missense_variant E78Q 232G>C BRCA-US 5 95128768 95128768 single base substitution G C missense_variant K21N 63G>C BRCA-US 5 95152314 95152314 single base substitution A G intron_variant BTCA-JP 5 95067269 95067269 single base substitution C A 5_prime_UTR_variant BTCA-JP 5 95067269 95067269 single base substitution C A intron_variant BTCA-JP 5 95067269 95067269 single base substitution C A upstream_gene_variant BTCA-JP 5 95067399 95067399 single base substitution G C intron_variant BTCA-JP 5 95067399 95067399 single base substitution G C upstream_gene_variant BTCA-JP 5 95067839 95067839 deletion of <=200bp T - downstream_gene_variant BTCA-JP 5 95067839 95067839 deletion of <=200bp T - frameshift_variant P93 BTCA-JP 5 95067839 95067839 deletion of <=200bp T - intron_variant BTCA-JP 5 95067839 95067839 deletion of <=200bp T - upstream_gene_variant BTCA-JP 5 95072667 95072667 single base substitution C T downstream_gene_variant BTCA-JP 5 95072667 95072667 single base substitution C T exon_variant BTCA-JP 5 95072667 95072667 single base substitution C T intron_variant BTCA-JP 5 95072667 95072667 single base substitution C T synonymous_variant N101N 303C>T BTCA-JP 5 95072667 95072667 single base substitution C T synonymous_variant N107N 321C>T BTCA-JP 5 95099133 95099133 single base substitution T C intron_variant BTCA-JP 5 95099133 95099133 single base substitution T C upstream_gene_variant BTCA-JP 5 95103594 95103594 single base substitution G A downstream_gene_variant BTCA-JP 5 95103594 95103594 single base substitution G A intron_variant BTCA-JP 5 95103594 95103594 single base substitution G A splice_region_variant BTCA-JP 5 95103594 95103594 single base substitution G A upstream_gene_variant BTCA-JP 5 95152352 95152352 single base substitution G A intron_variant CESC-US 5 95067706 95067706 single base substitution C T exon_variant CESC-US 5 95067706 95067706 single base substitution C T missense_variant T49M 146C>T CESC-US 5 95067706 95067706 single base substitution C T missense_variant T55M 164C>T CESC-US 5 95067706 95067706 single base substitution C T upstream_gene_variant CESC-US 5 95067751 95067751 single base substitution G T downstream_gene_variant CESC-US 5 95067751 95067751 single base substitution G T exon_variant CESC-US 5 95067751 95067751 single base substitution G T missense_variant G64V 191G>T CESC-US 5 95067751 95067751 single base substitution G T missense_variant G70V 209G>T CESC-US 5 95067751 95067751 single base substitution G T upstream_gene_variant CESC-US 5 95067758 95067758 single base substitution C G downstream_gene_variant CESC-US 5 95067758 95067758 single base substitution C G exon_variant CESC-US 5 95067758 95067758 single base substitution C G synonymous_variant V66V 198C>G CESC-US 5 95067758 95067758 single base substitution C G synonymous_variant V72V 216C>G CESC-US 5 95067758 95067758 single base substitution C G upstream_gene_variant CESC-US 5 95067902 95067902 single base substitution C T 3_prime_UTR_variant CESC-US 5 95067902 95067902 single base substitution C T downstream_gene_variant CESC-US 5 95067902 95067902 single base substitution C T intron_variant CESC-US 5 95067902 95067902 single base substitution C T upstream_gene_variant CESC-US 5 95128826 95128826 single base substitution C T 3_prime_UTR_variant CESC-US 5 95128826 95128826 single base substitution C T downstream_gene_variant CESC-US 5 95128826 95128826 single base substitution C T intron_variant CESC-US 5 95128826 95128826 single base substitution C T missense_variant A226V 677C>T CESC-US 5 95128826 95128826 single base substitution C T missense_variant A595V 1784C>T CESC-US 5 95128826 95128826 single base substitution C T missense_variant A97V 290C>T CESC-US 5 95158313 95158313 single base substitution G A intron_variant CLLE-ES 5 95049334 95049334 single base substitution C A exon_variant CLLE-ES 5 95049334 95049334 single base substitution C A intron_variant CLLE-ES 5 95049334 95049334 single base substitution C A upstream_gene_variant CLLE-ES 5 95090495 95090495 single base substitution T C downstream_gene_variant CLLE-ES 5 95090495 95090495 single base substitution T C intron_variant CLLE-ES 5 95100621 95100621 single base substitution C A downstream_gene_variant CLLE-ES 5 95100621 95100621 single base substitution C A intron_variant CLLE-ES 5 95100621 95100621 single base substitution C A upstream_gene_variant CLLE-ES 5 95101160 95101160 single base substitution G A downstream_gene_variant CLLE-ES 5 95101160 95101160 single base substitution G A intron_variant CLLE-ES 5 95101160 95101160 single base substitution G A upstream_gene_variant CLLE-ES 5 95101699 95101699 single base substitution C T downstream_gene_variant CLLE-ES 5 95101699 95101699 single base substitution C T intron_variant CLLE-ES 5 95101699 95101699 single base substitution C T upstream_gene_variant CLLE-ES 5 95102378 95102378 single base substitution G A downstream_gene_variant CLLE-ES 5 95102378 95102378 single base substitution G A intron_variant CLLE-ES 5 95102378 95102378 single base substitution G A upstream_gene_variant CLLE-ES 5 95110492 95110492 single base substitution A G intron_variant CLLE-ES 5 95121326 95121326 single base substitution A T downstream_gene_variant CLLE-ES 5 95121326 95121326 single base substitution A T intron_variant CLLE-ES 5 95121326 95121326 single base substitution A T upstream_gene_variant CLLE-ES 5 95126639 95126639 single base substitution C T downstream_gene_variant CLLE-ES 5 95126639 95126639 single base substitution C T intron_variant CLLE-ES 5 95127067 95127067 single base substitution G T downstream_gene_variant CLLE-ES 5 95127067 95127067 single base substitution G T intron_variant CLLE-ES 5 95130788 95130789 deletion of <=200bp AA - 3_prime_UTR_variant CLLE-ES 5 95130788 95130789 deletion of <=200bp AA - downstream_gene_variant CLLE-ES 5 95130788 95130789 deletion of <=200bp AA - intron_variant CLLE-ES 5 95154055 95154055 single base substitution A G intron_variant COAD-US 5 95067647 95067647 single base substitution G C exon_variant COAD-US 5 95067647 95067647 single base substitution G C synonymous_variant L29L 87G>C COAD-US 5 95067647 95067647 single base substitution G C synonymous_variant L35L 105G>C COAD-US 5 95067647 95067647 single base substitution G C upstream_gene_variant COAD-US 5 95084131 95084131 single base substitution G A 3_prime_UTR_variant COAD-US 5 95084131 95084131 single base substitution G A exon_variant COAD-US 5 95084131 95084131 single base substitution G A synonymous_variant A170A 510G>A COAD-US 5 95084131 95084131 single base substitution G A synonymous_variant A176A 528G>A COAD-US 5 95091194 95091194 single base substitution C T 3_prime_UTR_variant COAD-US 5 95091194 95091194 single base substitution C T downstream_gene_variant COAD-US 5 95091194 95091194 single base substitution C T exon_variant COAD-US 5 95091194 95091194 single base substitution C T synonymous_variant Y259Y 777C>T COAD-US 5 95091201 95091201 single base substitution A G 3_prime_UTR_variant COAD-US 5 95091201 95091201 single base substitution A G downstream_gene_variant COAD-US 5 95091201 95091201 single base substitution A G exon_variant COAD-US 5 95091201 95091201 single base substitution A G missense_variant N262D 784A>G COAD-US 5 95116039 95116039 single base substitution G A exon_variant COAD-US 5 95116039 95116039 single base substitution G A missense_variant A37T 109G>A COAD-US 5 95116039 95116039 single base substitution G A missense_variant A456T 1366G>A COAD-US 5 95116039 95116039 single base substitution G A missense_variant A87T 259G>A COAD-US 5 95116039 95116039 single base substitution G A upstream_gene_variant COAD-US 5 95119611 95119611 single base substitution A G downstream_gene_variant COAD-US 5 95119611 95119611 single base substitution A G exon_variant COAD-US 5 95119611 95119611 single base substitution A G missense_variant S104G 310A>G COAD-US 5 95119611 95119611 single base substitution A G missense_variant S154G 460A>G COAD-US 5 95119611 95119611 single base substitution A G missense_variant S25G 73A>G COAD-US 5 95119611 95119611 single base substitution A G missense_variant S523G 1567A>G COAD-US 5 95119611 95119611 single base substitution A G upstream_gene_variant COAD-US 5 95119656 95119656 deletion of <=200bp A - downstream_gene_variant COAD-US 5 95119656 95119656 deletion of <=200bp A - exon_variant COAD-US 5 95119656 95119656 deletion of <=200bp A - frameshift_variant K119 COAD-US 5 95119656 95119656 deletion of <=200bp A - frameshift_variant K169 COAD-US 5 95119656 95119656 deletion of <=200bp A - frameshift_variant K40 COAD-US 5 95119656 95119656 deletion of <=200bp A - frameshift_variant K538 COAD-US 5 95119656 95119656 deletion of <=200bp A - upstream_gene_variant COAD-US 5 95158197 95158197 single base substitution A C intron_variant COCA-CN 5 95048886 95048886 single base substitution T A upstream_gene_variant COCA-CN 5 95067847 95067847 single base substitution C T downstream_gene_variant COCA-CN 5 95067847 95067847 single base substitution C T intron_variant COCA-CN 5 95067847 95067847 single base substitution C T missense_variant S96F 287C>T COCA-CN 5 95067847 95067847 single base substitution C T upstream_gene_variant COCA-CN 5 95068406 95068406 single base substitution G A 3_prime_UTR_variant COCA-CN 5 95068406 95068406 single base substitution G A downstream_gene_variant COCA-CN 5 95068406 95068406 single base substitution G A intron_variant COCA-CN 5 95068406 95068406 single base substitution G A upstream_gene_variant COCA-CN 5 95068407 95068407 single base substitution T A 3_prime_UTR_variant COCA-CN 5 95068407 95068407 single base substitution T A downstream_gene_variant COCA-CN 5 95068407 95068407 single base substitution T A intron_variant COCA-CN 5 95068407 95068407 single base substitution T A upstream_gene_variant COCA-CN 5 95103921 95103921 single base substitution C A downstream_gene_variant COCA-CN 5 95103921 95103921 single base substitution C A intron_variant COCA-CN 5 95110967 95110967 single base substitution C T intron_variant COCA-CN 5 95110967 95110967 single base substitution C T upstream_gene_variant COCA-CN 5 95116167 95116167 single base substitution T C intron_variant COCA-CN 5 95116167 95116167 single base substitution T C upstream_gene_variant COCA-CN 5 95117780 95117780 single base substitution A G intron_variant COCA-CN 5 95117780 95117780 single base substitution A G upstream_gene_variant COCA-CN 5 95119328 95119328 single base substitution A G exon_variant COCA-CN 5 95119328 95119328 single base substitution A G intron_variant COCA-CN 5 95119328 95119328 single base substitution A G upstream_gene_variant COCA-CN 5 95119477 95119477 single base substitution C A exon_variant COCA-CN 5 95119477 95119477 single base substitution C A intron_variant COCA-CN 5 95119477 95119477 single base substitution C A upstream_gene_variant COCA-CN 5 95128877 95128877 single base substitution A G 3_prime_UTR_variant COCA-CN 5 95128877 95128877 single base substitution A G downstream_gene_variant COCA-CN 5 95128877 95128877 single base substitution A G intron_variant COCA-CN 5 95128877 95128877 single base substitution A G splice_region_variant COCA-CN 5 95128877 95128877 single base substitution A G stop_retained_variant *243* 728A>G COCA-CN 5 95128877 95128877 single base substitution A G stop_retained_variant *612* 1835A>G COCA-CN 5 95134660 95134660 single base substitution T C downstream_gene_variant COCA-CN 5 95134660 95134660 single base substitution T C intron_variant COCA-CN 5 95152306 95152306 single base substitution C A intron_variant EOPC-DE 5 95100977 95100977 single base substitution G T downstream_gene_variant EOPC-DE 5 95100977 95100977 single base substitution G T intron_variant EOPC-DE 5 95100977 95100977 single base substitution G T upstream_gene_variant ESAD-UK 5 95046062 95046062 single base substitution G A upstream_gene_variant ESAD-UK 5 95047855 95047855 single base substitution C A upstream_gene_variant ESAD-UK 5 95048612 95048612 single base substitution A G upstream_gene_variant ESAD-UK 5 95050877 95050877 single base substitution A C intron_variant ESAD-UK 5 95050877 95050877 single base substitution A C upstream_gene_variant ESAD-UK 5 95057046 95057046 single base substitution G C intron_variant ESAD-UK 5 95058502 95058502 single base substitution G A intron_variant ESAD-UK 5 95061159 95061159 single base substitution C T intron_variant ESAD-UK 5 95062514 95062514 single base substitution G C intron_variant ESAD-UK 5 95062514 95062514 single base substitution G C upstream_gene_variant ESAD-UK 5 95063695 95063695 single base substitution T C intron_variant ESAD-UK 5 95063695 95063695 single base substitution T C upstream_gene_variant ESAD-UK 5 95064367 95064367 single base substitution G A intron_variant ESAD-UK 5 95064367 95064367 single base substitution G A upstream_gene_variant ESAD-UK 5 95064698 95064698 single base substitution C G intron_variant ESAD-UK 5 95064698 95064698 single base substitution C G upstream_gene_variant ESAD-UK 5 95067839 95067839 deletion of <=200bp T - downstream_gene_variant ESAD-UK 5 95067839 95067839 deletion of <=200bp T - frameshift_variant P93 ESAD-UK 5 95067839 95067839 deletion of <=200bp T - intron_variant ESAD-UK 5 95067839 95067839 deletion of <=200bp T - upstream_gene_variant ESAD-UK 5 95068689 95068689 single base substitution A G downstream_gene_variant ESAD-UK 5 95068689 95068689 single base substitution A G intron_variant ESAD-UK 5 95068689 95068689 single base substitution A G upstream_gene_variant ESAD-UK 5 95069621 95069621 single base substitution C T downstream_gene_variant ESAD-UK 5 95069621 95069621 single base substitution C T intron_variant ESAD-UK 5 95069621 95069621 single base substitution C T upstream_gene_variant ESAD-UK 5 95070007 95070007 single base substitution T A downstream_gene_variant ESAD-UK 5 95070007 95070007 single base substitution T A intron_variant ESAD-UK 5 95070007 95070007 single base substitution T A upstream_gene_variant ESAD-UK 5 95070751 95070751 deletion of <=200bp C - downstream_gene_variant ESAD-UK 5 95070751 95070751 deletion of <=200bp C - intron_variant ESAD-UK 5 95070751 95070751 deletion of <=200bp C - upstream_gene_variant ESAD-UK 5 95072572 95072572 single base substitution G A downstream_gene_variant ESAD-UK 5 95072572 95072572 single base substitution G A intron_variant ESAD-UK 5 95072572 95072572 single base substitution G A upstream_gene_variant ESAD-UK 5 95076573 95076573 deletion of <=200bp T - downstream_gene_variant ESAD-UK 5 95076573 95076573 deletion of <=200bp T - intron_variant ESAD-UK 5 95078111 95078111 single base substitution T C intron_variant ESAD-UK 5 95081628 95081628 single base substitution G A intron_variant ESAD-UK 5 95092804 95092804 single base substitution C T downstream_gene_variant ESAD-UK 5 95092804 95092804 single base substitution C T intron_variant ESAD-UK 5 95096787 95096787 single base substitution G A downstream_gene_variant ESAD-UK 5 95096787 95096787 single base substitution G A intron_variant ESAD-UK 5 95097359 95097359 single base substitution G T intron_variant ESAD-UK 5 95098330 95098330 single base substitution G T intron_variant ESAD-UK 5 95101083 95101083 single base substitution G C downstream_gene_variant ESAD-UK 5 95101083 95101083 single base substitution G C intron_variant ESAD-UK 5 95101083 95101083 single base substitution G C upstream_gene_variant ESAD-UK 5 95101125 95101125 single base substitution G A downstream_gene_variant ESAD-UK 5 95101125 95101125 single base substitution G A intron_variant ESAD-UK 5 95101125 95101125 single base substitution G A upstream_gene_variant ESAD-UK 5 95102090 95102090 single base substitution G A downstream_gene_variant ESAD-UK 5 95102090 95102090 single base substitution G A intron_variant ESAD-UK 5 95102090 95102090 single base substitution G A upstream_gene_variant ESAD-UK 5 95102396 95102396 single base substitution C A downstream_gene_variant ESAD-UK 5 95102396 95102396 single base substitution C A intron_variant ESAD-UK 5 95102396 95102396 single base substitution C A upstream_gene_variant ESAD-UK 5 95102698 95102698 single base substitution G A downstream_gene_variant ESAD-UK 5 95102698 95102698 single base substitution G A intron_variant ESAD-UK 5 95102698 95102698 single base substitution G A upstream_gene_variant ESAD-UK 5 95103558 95103558 single base substitution G A downstream_gene_variant ESAD-UK 5 95103558 95103558 single base substitution G A intron_variant ESAD-UK 5 95103558 95103558 single base substitution G A synonymous_variant V6V 18G>A ESAD-UK 5 95103558 95103558 single base substitution G A upstream_gene_variant ESAD-UK 5 95104613 95104613 single base substitution C T intron_variant ESAD-UK 5 95105211 95105211 single base substitution T A intron_variant ESAD-UK 5 95107035 95107035 single base substitution A G intron_variant ESAD-UK 5 95107274 95107274 single base substitution C T intron_variant ESAD-UK 5 95108612 95108612 single base substitution G A intron_variant ESAD-UK 5 95111111 95111111 insertion of <=200bp - TA intron_variant ESAD-UK 5 95111111 95111111 insertion of <=200bp - TA upstream_gene_variant ESAD-UK 5 95113785 95113785 single base substitution C A intron_variant ESAD-UK 5 95113785 95113785 single base substitution C A upstream_gene_variant ESAD-UK 5 95113883 95113883 single base substitution C T intron_variant ESAD-UK 5 95113883 95113883 single base substitution C T upstream_gene_variant ESAD-UK 5 95114842 95114842 single base substitution T A intron_variant ESAD-UK 5 95114842 95114842 single base substitution T A upstream_gene_variant ESAD-UK 5 95115116 95115116 single base substitution C A intron_variant ESAD-UK 5 95115116 95115116 single base substitution C A upstream_gene_variant ESAD-UK 5 95127422 95127422 single base substitution T C downstream_gene_variant ESAD-UK 5 95127422 95127422 single base substitution T C intron_variant ESAD-UK 5 95128345 95128345 single base substitution A C downstream_gene_variant ESAD-UK 5 95128345 95128345 single base substitution A C intron_variant ESAD-UK 5 95129205 95129205 single base substitution G A 3_prime_UTR_variant ESAD-UK 5 95129205 95129205 single base substitution G A downstream_gene_variant ESAD-UK 5 95129205 95129205 single base substitution G A intron_variant ESAD-UK 5 95129354 95129354 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 95129354 95129354 single base substitution C T downstream_gene_variant ESAD-UK 5 95129354 95129354 single base substitution C T intron_variant ESAD-UK 5 95129416 95129416 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 5 95129416 95129416 insertion of <=200bp - A downstream_gene_variant ESAD-UK 5 95129416 95129416 insertion of <=200bp - A intron_variant ESAD-UK 5 95132357 95132357 single base substitution G C downstream_gene_variant ESAD-UK 5 95132357 95132357 single base substitution G C intron_variant ESAD-UK 5 95133714 95133714 single base substitution C T downstream_gene_variant ESAD-UK 5 95133714 95133714 single base substitution C T intron_variant ESAD-UK 5 95135135 95135135 single base substitution C T downstream_gene_variant ESAD-UK 5 95135135 95135135 single base substitution C T intron_variant ESAD-UK 5 95135832 95135832 single base substitution A G downstream_gene_variant ESAD-UK 5 95135832 95135832 single base substitution A G intron_variant ESAD-UK 5 95135845 95135845 single base substitution A T downstream_gene_variant ESAD-UK 5 95135845 95135845 single base substitution A T intron_variant ESAD-UK 5 95138078 95138078 single base substitution G A intron_variant ESAD-UK 5 95140708 95140708 single base substitution C A intron_variant ESAD-UK 5 95143684 95143684 single base substitution C G intron_variant ESAD-UK 5 95144238 95144238 single base substitution A G intron_variant ESAD-UK 5 95148659 95148659 deletion of <=200bp T - intron_variant ESAD-UK 5 95149551 95149551 single base substitution A G intron_variant ESAD-UK 5 95151325 95151325 single base substitution G A intron_variant ESAD-UK 5 95152938 95152938 single base substitution G A intron_variant ESAD-UK 5 95155945 95155945 single base substitution C G intron_variant ESAD-UK 5 95156337 95156337 single base substitution G A intron_variant ESAD-UK 5 95157185 95157185 single base substitution A G intron_variant ESAD-UK 5 95157510 95157510 single base substitution G C intron_variant ESAD-UK 5 95158903 95158903 single base substitution G A intron_variant ESAD-UK 5 95159257 95159257 single base substitution C A intron_variant ESAD-UK 5 95159579 95159579 single base substitution G A missense_variant G28R 82G>A ESCA-CN 5 95067785 95067785 single base substitution C T downstream_gene_variant ESCA-CN 5 95067785 95067785 single base substitution C T exon_variant ESCA-CN 5 95067785 95067785 single base substitution C T synonymous_variant V75V 225C>T ESCA-CN 5 95067785 95067785 single base substitution C T synonymous_variant V81V 243C>T ESCA-CN 5 95067785 95067785 single base substitution C T upstream_gene_variant ESCA-CN 5 95129189 95129189 deletion of <=200bp A - 3_prime_UTR_variant ESCA-CN 5 95129189 95129189 deletion of <=200bp A - downstream_gene_variant ESCA-CN 5 95129189 95129189 deletion of <=200bp A - intron_variant ESCA-CN 5 95158276 95158276 single base substitution C G intron_variant LAML-KR 5 95067362 95067362 single base substitution C T 5_prime_UTR_variant LAML-KR 5 95067362 95067362 single base substitution C T intron_variant LAML-KR 5 95067362 95067362 single base substitution C T upstream_gene_variant LAML-KR 5 95103642 95103642 single base substitution T C downstream_gene_variant LAML-KR 5 95103642 95103642 single base substitution T C intron_variant LAML-KR 5 95103642 95103642 single base substitution T C upstream_gene_variant LAML-KR 5 95124328 95124328 single base substitution T G downstream_gene_variant LAML-KR 5 95124328 95124328 single base substitution T G intron_variant LAML-KR 5 95124328 95124328 single base substitution T G upstream_gene_variant LGG-US 5 95119548 95119548 single base substitution C T exon_variant LGG-US 5 95119548 95119548 single base substitution C T stop_gained Q133* 397C>T LGG-US 5 95119548 95119548 single base substitution C T stop_gained Q4* 10C>T LGG-US 5 95119548 95119548 single base substitution C T stop_gained Q502* 1504C>T LGG-US 5 95119548 95119548 single base substitution C T stop_gained Q83* 247C>T LGG-US 5 95119548 95119548 single base substitution C T upstream_gene_variant LICA-FR 5 95061513 95061513 insertion of <=200bp - T intron_variant LICA-FR 5 95089657 95089657 single base substitution T C downstream_gene_variant LICA-FR 5 95089657 95089657 single base substitution T C intron_variant LICA-FR 5 95091116 95091116 single base substitution A T downstream_gene_variant LICA-FR 5 95091116 95091116 single base substitution A T exon_variant LICA-FR 5 95091116 95091116 single base substitution A T missense_variant L233F 699A>T LICA-FR 5 95133414 95133414 single base substitution G A downstream_gene_variant LICA-FR 5 95133414 95133414 single base substitution G A intron_variant LICA-FR 5 95139216 95139216 single base substitution G C intron_variant LIHC-US 5 95067575 95067575 single base substitution C T exon_variant LIHC-US 5 95067575 95067575 single base substitution C T synonymous_variant I11I 33C>T LIHC-US 5 95067575 95067575 single base substitution C T synonymous_variant I5I 15C>T LIHC-US 5 95067575 95067575 single base substitution C T upstream_gene_variant LIHC-US 5 95091309 95091309 single base substitution A G 3_prime_UTR_variant LIHC-US 5 95091309 95091309 single base substitution A G downstream_gene_variant LIHC-US 5 95091309 95091309 single base substitution A G exon_variant LIHC-US 5 95091309 95091309 single base substitution A G missense_variant I298V 892A>G LINC-JP 5 95051430 95051430 single base substitution T C intron_variant LINC-JP 5 95051430 95051430 single base substitution T C upstream_gene_variant LINC-JP 5 95067779 95067779 single base substitution T G downstream_gene_variant LINC-JP 5 95067779 95067779 single base substitution T G exon_variant LINC-JP 5 95067779 95067779 single base substitution T G missense_variant C73W 219T>G LINC-JP 5 95067779 95067779 single base substitution T G missense_variant C79W 237T>G LINC-JP 5 95067779 95067779 single base substitution T G upstream_gene_variant LINC-JP 5 95074629 95074629 single base substitution A T downstream_gene_variant LINC-JP 5 95074629 95074629 single base substitution A T intron_variant LINC-JP 5 95075258 95075258 single base substitution T A downstream_gene_variant LINC-JP 5 95075258 95075258 single base substitution T A intron_variant LINC-JP 5 95075265 95075265 single base substitution A G downstream_gene_variant LINC-JP 5 95075265 95075265 single base substitution A G intron_variant LINC-JP 5 95077227 95077227 single base substitution G T downstream_gene_variant LINC-JP 5 95077227 95077227 single base substitution G T intron_variant LINC-JP 5 95094759 95094759 single base substitution A G downstream_gene_variant LINC-JP 5 95094759 95094759 single base substitution A G intron_variant LINC-JP 5 95095866 95095866 single base substitution G A downstream_gene_variant LINC-JP 5 95095866 95095866 single base substitution G A intron_variant LINC-JP 5 95096410 95096410 single base substitution C G downstream_gene_variant LINC-JP 5 95096410 95096410 single base substitution C G intron_variant LINC-JP 5 95103875 95103875 single base substitution G A downstream_gene_variant LINC-JP 5 95103875 95103875 single base substitution G A intron_variant LINC-JP 5 95103875 95103875 single base substitution G A splice_region_variant LINC-JP 5 95109883 95109883 single base substitution T G intron_variant LINC-JP 5 95111847 95111847 single base substitution A G intron_variant LINC-JP 5 95111847 95111847 single base substitution A G upstream_gene_variant LINC-JP 5 95119467 95119467 single base substitution C T exon_variant LINC-JP 5 95119467 95119467 single base substitution C T intron_variant LINC-JP 5 95119467 95119467 single base substitution C T upstream_gene_variant LINC-JP 5 95127500 95127500 single base substitution T G downstream_gene_variant LINC-JP 5 95127500 95127500 single base substitution T G intron_variant LINC-JP 5 95145468 95145468 single base substitution C T intron_variant LINC-JP 5 95145514 95145514 single base substitution T A intron_variant LINC-JP 5 95158462 95158462 single base substitution A C intron_variant LIRI-JP 5 95045709 95045709 single base substitution T A upstream_gene_variant LIRI-JP 5 95050584 95050584 single base substitution A G intron_variant LIRI-JP 5 95050584 95050584 single base substitution A G upstream_gene_variant LIRI-JP 5 95052193 95052193 single base substitution T C intron_variant LIRI-JP 5 95052193 95052193 single base substitution T C upstream_gene_variant LIRI-JP 5 95053722 95053722 single base substitution G A intron_variant LIRI-JP 5 95054135 95054135 single base substitution T C intron_variant LIRI-JP 5 95057815 95057815 single base substitution G A intron_variant LIRI-JP 5 95058454 95058454 single base substitution T C intron_variant LIRI-JP 5 95058654 95058654 single base substitution T C intron_variant LIRI-JP 5 95060656 95060656 single base substitution C T intron_variant LIRI-JP 5 95069484 95069484 single base substitution A G downstream_gene_variant LIRI-JP 5 95069484 95069484 single base substitution A G intron_variant LIRI-JP 5 95069484 95069484 single base substitution A G upstream_gene_variant LIRI-JP 5 95071943 95071943 single base substitution A G downstream_gene_variant LIRI-JP 5 95071943 95071943 single base substitution A G intron_variant LIRI-JP 5 95071943 95071943 single base substitution A G upstream_gene_variant LIRI-JP 5 95072299 95072299 single base substitution A G downstream_gene_variant LIRI-JP 5 95072299 95072299 single base substitution A G intron_variant LIRI-JP 5 95072299 95072299 single base substitution A G upstream_gene_variant LIRI-JP 5 95074746 95074746 single base substitution A G downstream_gene_variant LIRI-JP 5 95074746 95074746 single base substitution A G intron_variant LIRI-JP 5 95074844 95074844 single base substitution T A downstream_gene_variant LIRI-JP 5 95074844 95074844 single base substitution T A intron_variant LIRI-JP 5 95076634 95076634 single base substitution A G downstream_gene_variant LIRI-JP 5 95076634 95076634 single base substitution A G intron_variant LIRI-JP 5 95076741 95076741 single base substitution G C downstream_gene_variant LIRI-JP 5 95076741 95076741 single base substitution G C intron_variant LIRI-JP 5 95077155 95077155 single base substitution G C downstream_gene_variant LIRI-JP 5 95077155 95077155 single base substitution G C intron_variant LIRI-JP 5 95077644 95077644 single base substitution G C downstream_gene_variant LIRI-JP 5 95077644 95077644 single base substitution G C intron_variant LIRI-JP 5 95077699 95077699 single base substitution G C downstream_gene_variant LIRI-JP 5 95077699 95077699 single base substitution G C intron_variant LIRI-JP 5 95078056 95078056 single base substitution G C intron_variant LIRI-JP 5 95078168 95078168 single base substitution G A intron_variant LIRI-JP 5 95078175 95078175 single base substitution G T intron_variant LIRI-JP 5 95078187 95078187 single base substitution C T intron_variant LIRI-JP 5 95080773 95080773 single base substitution T A intron_variant LIRI-JP 5 95082025 95082025 single base substitution G T intron_variant LIRI-JP 5 95085666 95085666 single base substitution G T downstream_gene_variant LIRI-JP 5 95085666 95085666 single base substitution G T intron_variant LIRI-JP 5 95086382 95086382 single base substitution G T downstream_gene_variant LIRI-JP 5 95086382 95086382 single base substitution G T intron_variant LIRI-JP 5 95087560 95087560 single base substitution A G downstream_gene_variant LIRI-JP 5 95087560 95087560 single base substitution A G intron_variant LIRI-JP 5 95088118 95088118 single base substitution T C downstream_gene_variant LIRI-JP 5 95088118 95088118 single base substitution T C intron_variant LIRI-JP 5 95091151 95091151 single base substitution A G 3_prime_UTR_variant LIRI-JP 5 95091151 95091151 single base substitution A G downstream_gene_variant LIRI-JP 5 95091151 95091151 single base substitution A G exon_variant LIRI-JP 5 95091151 95091151 single base substitution A G missense_variant N245S 734A>G LIRI-JP 5 95092404 95092404 single base substitution A G downstream_gene_variant LIRI-JP 5 95092404 95092404 single base substitution A G intron_variant LIRI-JP 5 95093492 95093492 single base substitution G T downstream_gene_variant LIRI-JP 5 95093492 95093492 single base substitution G T intron_variant LIRI-JP 5 95093856 95093856 single base substitution A G downstream_gene_variant LIRI-JP 5 95093856 95093856 single base substitution A G intron_variant LIRI-JP 5 95095679 95095679 single base substitution A C downstream_gene_variant LIRI-JP 5 95095679 95095679 single base substitution A C intron_variant LIRI-JP 5 95096308 95096308 single base substitution A G downstream_gene_variant LIRI-JP 5 95096308 95096308 single base substitution A G intron_variant LIRI-JP 5 95096409 95096409 single base substitution C G downstream_gene_variant LIRI-JP 5 95096409 95096409 single base substitution C G intron_variant LIRI-JP 5 95097726 95097726 single base substitution G A intron_variant LIRI-JP 5 95099219 95099219 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 95099219 95099219 single base substitution T C synonymous_variant F352F 1056T>C LIRI-JP 5 95099219 95099219 single base substitution T C upstream_gene_variant LIRI-JP 5 95100122 95100122 single base substitution A G downstream_gene_variant LIRI-JP 5 95100122 95100122 single base substitution A G intron_variant LIRI-JP 5 95100122 95100122 single base substitution A G upstream_gene_variant LIRI-JP 5 95101327 95101327 single base substitution G A downstream_gene_variant LIRI-JP 5 95101327 95101327 single base substitution G A intron_variant LIRI-JP 5 95101327 95101327 single base substitution G A upstream_gene_variant LIRI-JP 5 95101596 95101596 single base substitution G A downstream_gene_variant LIRI-JP 5 95101596 95101596 single base substitution G A intron_variant LIRI-JP 5 95101596 95101596 single base substitution G A upstream_gene_variant LIRI-JP 5 95101761 95101761 single base substitution A G downstream_gene_variant LIRI-JP 5 95101761 95101761 single base substitution A G intron_variant LIRI-JP 5 95101761 95101761 single base substitution A G upstream_gene_variant LIRI-JP 5 95102831 95102831 single base substitution C G downstream_gene_variant LIRI-JP 5 95102831 95102831 single base substitution C G intron_variant LIRI-JP 5 95102831 95102831 single base substitution C G upstream_gene_variant LIRI-JP 5 95103028 95103028 single base substitution A G downstream_gene_variant LIRI-JP 5 95103028 95103028 single base substitution A G intron_variant LIRI-JP 5 95103028 95103028 single base substitution A G upstream_gene_variant LIRI-JP 5 95111237 95111237 single base substitution G T intron_variant LIRI-JP 5 95111237 95111237 single base substitution G T upstream_gene_variant LIRI-JP 5 95112880 95112880 single base substitution T G intron_variant LIRI-JP 5 95112880 95112880 single base substitution T G upstream_gene_variant LIRI-JP 5 95116398 95116398 single base substitution T G intron_variant LIRI-JP 5 95116398 95116398 single base substitution T G upstream_gene_variant LIRI-JP 5 95122009 95122009 single base substitution A G downstream_gene_variant LIRI-JP 5 95122009 95122009 single base substitution A G intron_variant LIRI-JP 5 95122009 95122009 single base substitution A G upstream_gene_variant LIRI-JP 5 95122776 95122776 single base substitution A G downstream_gene_variant LIRI-JP 5 95122776 95122776 single base substitution A G intron_variant LIRI-JP 5 95122776 95122776 single base substitution A G upstream_gene_variant LIRI-JP 5 95123881 95123881 single base substitution G C downstream_gene_variant LIRI-JP 5 95123881 95123881 single base substitution G C intron_variant LIRI-JP 5 95123881 95123881 single base substitution G C upstream_gene_variant LIRI-JP 5 95124431 95124431 single base substitution G A downstream_gene_variant LIRI-JP 5 95124431 95124431 single base substitution G A intron_variant LIRI-JP 5 95124431 95124431 single base substitution G A upstream_gene_variant LIRI-JP 5 95125000 95125000 single base substitution C G 3_prime_UTR_variant LIRI-JP 5 95125000 95125000 single base substitution C G downstream_gene_variant LIRI-JP 5 95125000 95125000 single base substitution C G intron_variant LIRI-JP 5 95126255 95126255 single base substitution A G downstream_gene_variant LIRI-JP 5 95126255 95126255 single base substitution A G intron_variant LIRI-JP 5 95126351 95126351 single base substitution G C downstream_gene_variant LIRI-JP 5 95126351 95126351 single base substitution G C intron_variant LIRI-JP 5 95126808 95126808 single base substitution T C downstream_gene_variant LIRI-JP 5 95126808 95126808 single base substitution T C intron_variant LIRI-JP 5 95126996 95126996 single base substitution T C downstream_gene_variant LIRI-JP 5 95126996 95126996 single base substitution T C intron_variant LIRI-JP 5 95127073 95127073 single base substitution T C downstream_gene_variant LIRI-JP 5 95127073 95127073 single base substitution T C intron_variant LIRI-JP 5 95128884 95128884 single base substitution A T 3_prime_UTR_variant LIRI-JP 5 95128884 95128884 single base substitution A T downstream_gene_variant LIRI-JP 5 95128884 95128884 single base substitution A T intron_variant LIRI-JP 5 95133062 95133062 single base substitution C T downstream_gene_variant LIRI-JP 5 95133062 95133062 single base substitution C T intron_variant LIRI-JP 5 95134535 95134535 single base substitution A G downstream_gene_variant LIRI-JP 5 95134535 95134535 single base substitution A G intron_variant LIRI-JP 5 95137423 95137423 single base substitution T G intron_variant LIRI-JP 5 95139770 95139770 single base substitution T A intron_variant LIRI-JP 5 95140868 95140868 single base substitution C G intron_variant LIRI-JP 5 95142626 95142626 single base substitution C T intron_variant LIRI-JP 5 95144582 95144582 single base substitution A C intron_variant LIRI-JP 5 95144733 95144733 single base substitution A G intron_variant LIRI-JP 5 95146216 95146216 single base substitution A G intron_variant LIRI-JP 5 95146231 95146231 single base substitution G C intron_variant LIRI-JP 5 95146853 95146853 single base substitution G A intron_variant LIRI-JP 5 95148451 95148451 single base substitution G A intron_variant LIRI-JP 5 95149230 95149230 single base substitution C T intron_variant LIRI-JP 5 95149632 95149632 single base substitution T C intron_variant LIRI-JP 5 95150952 95150952 insertion of <=200bp - C intron_variant LIRI-JP 5 95151823 95151823 single base substitution C G intron_variant LIRI-JP 5 95152537 95152537 single base substitution A G intron_variant LIRI-JP 5 95153252 95153252 single base substitution A C intron_variant LIRI-JP 5 95155166 95155166 single base substitution T C intron_variant LIRI-JP 5 95155476 95155476 single base substitution G A intron_variant LIRI-JP 5 95156810 95156810 single base substitution C T intron_variant LIRI-JP 5 95157956 95157956 single base substitution C T intron_variant LIRI-JP 5 95161440 95161440 single base substitution C T downstream_gene_variant LIRI-JP 5 95161679 95161679 single base substitution G C downstream_gene_variant LIRI-JP 5 95162657 95162657 single base substitution C T downstream_gene_variant LIRI-JP 5 95163035 95163035 single base substitution G A downstream_gene_variant LUSC-KR 5 95049085 95049085 single base substitution T C upstream_gene_variant LUSC-KR 5 95050395 95050395 single base substitution G A intron_variant LUSC-KR 5 95050395 95050395 single base substitution G A upstream_gene_variant LUSC-KR 5 95051650 95051650 single base substitution A T intron_variant LUSC-KR 5 95051650 95051650 single base substitution A T upstream_gene_variant LUSC-KR 5 95052037 95052037 single base substitution G A intron_variant LUSC-KR 5 95052037 95052037 single base substitution G A upstream_gene_variant LUSC-KR 5 95055145 95055145 single base substitution C A intron_variant LUSC-KR 5 95055203 95055203 single base substitution C G intron_variant LUSC-KR 5 95061200 95061200 single base substitution G A intron_variant LUSC-KR 5 95067842 95067842 single base substitution T C downstream_gene_variant LUSC-KR 5 95067842 95067842 single base substitution T C intron_variant LUSC-KR 5 95067842 95067842 single base substitution T C synonymous_variant F94F 282T>C LUSC-KR 5 95067842 95067842 single base substitution T C upstream_gene_variant LUSC-KR 5 95068661 95068661 single base substitution A T downstream_gene_variant LUSC-KR 5 95068661 95068661 single base substitution A T intron_variant LUSC-KR 5 95068661 95068661 single base substitution A T upstream_gene_variant LUSC-KR 5 95073981 95073981 single base substitution A T downstream_gene_variant LUSC-KR 5 95073981 95073981 single base substitution A T intron_variant LUSC-KR 5 95090947 95090947 single base substitution T C downstream_gene_variant LUSC-KR 5 95090947 95090947 single base substitution T C intron_variant LUSC-KR 5 95101083 95101083 single base substitution G A downstream_gene_variant LUSC-KR 5 95101083 95101083 single base substitution G A intron_variant LUSC-KR 5 95101083 95101083 single base substitution G A upstream_gene_variant LUSC-KR 5 95109532 95109532 single base substitution A T intron_variant LUSC-KR 5 95127438 95127438 single base substitution C T downstream_gene_variant LUSC-KR 5 95127438 95127438 single base substitution C T intron_variant LUSC-KR 5 95127994 95127994 single base substitution G C downstream_gene_variant LUSC-KR 5 95127994 95127994 single base substitution G C intron_variant LUSC-KR 5 95130707 95130707 single base substitution G C 3_prime_UTR_variant LUSC-KR 5 95130707 95130707 single base substitution G C downstream_gene_variant LUSC-KR 5 95130707 95130707 single base substitution G C intron_variant LUSC-KR 5 95133352 95133352 single base substitution A C downstream_gene_variant LUSC-KR 5 95133352 95133352 single base substitution A C intron_variant LUSC-KR 5 95134992 95134992 single base substitution G A downstream_gene_variant LUSC-KR 5 95134992 95134992 single base substitution G A intron_variant LUSC-KR 5 95136139 95136139 single base substitution G T downstream_gene_variant LUSC-KR 5 95136139 95136139 single base substitution G T intron_variant LUSC-KR 5 95137925 95137925 single base substitution A G intron_variant LUSC-KR 5 95140260 95140260 single base substitution G T intron_variant LUSC-KR 5 95149015 95149015 single base substitution G C intron_variant LUSC-KR 5 95151148 95151148 single base substitution C T intron_variant LUSC-KR 5 95151220 95151220 single base substitution G A intron_variant LUSC-KR 5 95151222 95151222 single base substitution T G intron_variant LUSC-KR 5 95151809 95151809 single base substitution G C intron_variant LUSC-KR 5 95160879 95160879 single base substitution G T downstream_gene_variant LUSC-KR 5 95164062 95164062 single base substitution A G downstream_gene_variant LUSC-US 5 95087983 95087983 single base substitution G A 3_prime_UTR_variant LUSC-US 5 95087983 95087983 single base substitution G A downstream_gene_variant LUSC-US 5 95087983 95087983 single base substitution G A exon_variant LUSC-US 5 95087983 95087983 single base substitution G A intron_variant LUSC-US 5 95087983 95087983 single base substitution G A missense_variant S204N 611G>A MALY-DE 5 95044528 95044528 single base substitution C T upstream_gene_variant MALY-DE 5 95045492 95045492 single base substitution T G upstream_gene_variant MALY-DE 5 95049477 95049477 single base substitution C A intron_variant MALY-DE 5 95049477 95049477 single base substitution C A upstream_gene_variant MALY-DE 5 95049478 95049478 single base substitution C T intron_variant MALY-DE 5 95049478 95049478 single base substitution C T upstream_gene_variant MALY-DE 5 95052765 95052765 single base substitution G C intron_variant MALY-DE 5 95052765 95052765 single base substitution G C upstream_gene_variant MALY-DE 5 95061669 95061669 single base substitution A G intron_variant MALY-DE 5 95061669 95061669 single base substitution A G upstream_gene_variant MALY-DE 5 95063317 95063317 single base substitution T C intron_variant MALY-DE 5 95063317 95063317 single base substitution T C upstream_gene_variant MALY-DE 5 95064510 95064510 single base substitution G A intron_variant MALY-DE 5 95064510 95064510 single base substitution G A upstream_gene_variant MALY-DE 5 95065314 95065314 single base substitution C A intron_variant MALY-DE 5 95065314 95065314 single base substitution C A upstream_gene_variant MALY-DE 5 95073513 95073513 single base substitution G A downstream_gene_variant MALY-DE 5 95073513 95073513 single base substitution G A intron_variant MALY-DE 5 95078116 95078116 single base substitution T A intron_variant MALY-DE 5 95080649 95080649 single base substitution C G intron_variant MALY-DE 5 95094052 95094052 single base substitution G A downstream_gene_variant MALY-DE 5 95094052 95094052 single base substitution G A intron_variant MALY-DE 5 95111505 95111505 deletion of <=200bp A - intron_variant MALY-DE 5 95111505 95111505 deletion of <=200bp A - upstream_gene_variant MALY-DE 5 95114857 95114857 single base substitution T A intron_variant MALY-DE 5 95114857 95114857 single base substitution T A upstream_gene_variant MALY-DE 5 95114939 95114939 single base substitution C T intron_variant MALY-DE 5 95114939 95114939 single base substitution C T upstream_gene_variant MALY-DE 5 95138391 95138391 single base substitution A G intron_variant MALY-DE 5 95142111 95142111 single base substitution C T intron_variant MALY-DE 5 95152076 95152076 single base substitution G C intron_variant MALY-DE 5 95153423 95153423 single base substitution G T intron_variant MALY-DE 5 95154631 95154631 single base substitution T G intron_variant MALY-DE 5 95162063 95162063 single base substitution A C downstream_gene_variant MALY-DE 5 95162635 95162635 single base substitution G A downstream_gene_variant MELA-AU 5 95044759 95044759 single base substitution C T upstream_gene_variant MELA-AU 5 95044895 95044895 single base substitution G A upstream_gene_variant MELA-AU 5 95045341 95045341 single base substitution C T upstream_gene_variant MELA-AU 5 95045356 95045356 single base substitution T G upstream_gene_variant MELA-AU 5 95045536 95045536 single base substitution G A upstream_gene_variant MELA-AU 5 95045857 95045857 single base substitution C T upstream_gene_variant MELA-AU 5 95045955 95045955 single base substitution C T upstream_gene_variant MELA-AU 5 95046435 95046435 single base substitution G A upstream_gene_variant MELA-AU 5 95046678 95046678 single base substitution G A upstream_gene_variant MELA-AU 5 95046800 95046800 single base substitution G A upstream_gene_variant MELA-AU 5 95046844 95046844 single base substitution G A upstream_gene_variant MELA-AU 5 95046874 95046874 single base substitution C T upstream_gene_variant MELA-AU 5 95047255 95047255 single base substitution C T upstream_gene_variant MELA-AU 5 95047413 95047413 single base substitution G A upstream_gene_variant MELA-AU 5 95047993 95047993 single base substitution A T upstream_gene_variant MELA-AU 5 95048179 95048179 single base substitution C T upstream_gene_variant MELA-AU 5 95048515 95048516 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 95048614 95048614 single base substitution C T upstream_gene_variant MELA-AU 5 95048883 95048883 single base substitution G A upstream_gene_variant MELA-AU 5 95048898 95048898 single base substitution C T upstream_gene_variant MELA-AU 5 95049092 95049092 single base substitution C T upstream_gene_variant MELA-AU 5 95049258 95049258 single base substitution C T exon_variant MELA-AU 5 95049258 95049258 single base substitution C T upstream_gene_variant MELA-AU 5 95049916 95049916 single base substitution G A intron_variant MELA-AU 5 95049916 95049916 single base substitution G A upstream_gene_variant MELA-AU 5 95050035 95050035 single base substitution A G intron_variant MELA-AU 5 95050035 95050035 single base substitution A G upstream_gene_variant MELA-AU 5 95050225 95050225 single base substitution G A intron_variant MELA-AU 5 95050225 95050225 single base substitution G A upstream_gene_variant MELA-AU 5 95050812 95050812 single base substitution G A intron_variant MELA-AU 5 95050812 95050812 single base substitution G A upstream_gene_variant MELA-AU 5 95050932 95050932 single base substitution G A intron_variant MELA-AU 5 95050932 95050932 single base substitution G A upstream_gene_variant MELA-AU 5 95051165 95051165 single base substitution G A intron_variant MELA-AU 5 95051165 95051165 single base substitution G A upstream_gene_variant MELA-AU 5 95051382 95051382 single base substitution G A intron_variant MELA-AU 5 95051382 95051382 single base substitution G A upstream_gene_variant MELA-AU 5 95051425 95051425 single base substitution G A intron_variant MELA-AU 5 95051425 95051425 single base substitution G A upstream_gene_variant MELA-AU 5 95051811 95051811 single base substitution G A intron_variant MELA-AU 5 95051811 95051811 single base substitution G A upstream_gene_variant MELA-AU 5 95051820 95051820 single base substitution G A intron_variant MELA-AU 5 95051820 95051820 single base substitution G A upstream_gene_variant MELA-AU 5 95052093 95052093 single base substitution G A intron_variant MELA-AU 5 95052093 95052093 single base substitution G A upstream_gene_variant MELA-AU 5 95052156 95052156 single base substitution C T intron_variant MELA-AU 5 95052156 95052156 single base substitution C T upstream_gene_variant MELA-AU 5 95052814 95052814 single base substitution A C intron_variant MELA-AU 5 95052814 95052814 single base substitution A C upstream_gene_variant MELA-AU 5 95053358 95053358 single base substitution G A exon_variant MELA-AU 5 95053419 95053419 single base substitution G A exon_variant MELA-AU 5 95053504 95053504 single base substitution G A intron_variant MELA-AU 5 95054506 95054506 single base substitution G A intron_variant MELA-AU 5 95055059 95055059 single base substitution G A intron_variant MELA-AU 5 95056568 95056568 single base substitution G A intron_variant MELA-AU 5 95057261 95057261 single base substitution T A intron_variant MELA-AU 5 95057302 95057302 single base substitution G A intron_variant MELA-AU 5 95057488 95057488 single base substitution G A intron_variant MELA-AU 5 95057559 95057559 single base substitution C T intron_variant MELA-AU 5 95057564 95057564 single base substitution G A intron_variant MELA-AU 5 95057633 95057633 single base substitution G T intron_variant MELA-AU 5 95057634 95057634 single base substitution G A intron_variant MELA-AU 5 95058086 95058086 single base substitution G A intron_variant MELA-AU 5 95058213 95058213 single base substitution G T intron_variant MELA-AU 5 95058261 95058261 single base substitution C T intron_variant MELA-AU 5 95058457 95058457 single base substitution G A intron_variant MELA-AU 5 95058650 95058650 single base substitution A C intron_variant MELA-AU 5 95058695 95058695 single base substitution G A intron_variant MELA-AU 5 95058855 95058855 single base substitution A T intron_variant MELA-AU 5 95059094 95059094 single base substitution G A intron_variant MELA-AU 5 95059136 95059136 single base substitution G A intron_variant MELA-AU 5 95059620 95059620 single base substitution C T intron_variant MELA-AU 5 95059759 95059759 single base substitution G A intron_variant MELA-AU 5 95059971 95059971 single base substitution C T intron_variant MELA-AU 5 95060059 95060059 single base substitution G A intron_variant MELA-AU 5 95060077 95060077 single base substitution T C intron_variant MELA-AU 5 95060256 95060256 single base substitution T A intron_variant MELA-AU 5 95060304 95060304 single base substitution G A intron_variant MELA-AU 5 95062328 95062328 single base substitution G A intron_variant MELA-AU 5 95062328 95062328 single base substitution G A upstream_gene_variant MELA-AU 5 95062420 95062420 single base substitution C T intron_variant MELA-AU 5 95062420 95062420 single base substitution C T upstream_gene_variant MELA-AU 5 95062522 95062522 single base substitution G A intron_variant MELA-AU 5 95062522 95062522 single base substitution G A upstream_gene_variant MELA-AU 5 95062543 95062543 single base substitution C T intron_variant MELA-AU 5 95062543 95062543 single base substitution C T upstream_gene_variant MELA-AU 5 95062576 95062576 single base substitution A G intron_variant MELA-AU 5 95062576 95062576 single base substitution A G upstream_gene_variant MELA-AU 5 95062611 95062611 single base substitution G A intron_variant MELA-AU 5 95062611 95062611 single base substitution G A upstream_gene_variant MELA-AU 5 95062641 95062641 single base substitution A T intron_variant MELA-AU 5 95062641 95062641 single base substitution A T upstream_gene_variant MELA-AU 5 95063193 95063193 single base substitution A G intron_variant MELA-AU 5 95063193 95063193 single base substitution A G upstream_gene_variant MELA-AU 5 95063496 95063496 single base substitution T G intron_variant MELA-AU 5 95063496 95063496 single base substitution T G upstream_gene_variant MELA-AU 5 95063939 95063939 single base substitution C T intron_variant MELA-AU 5 95063939 95063939 single base substitution C T upstream_gene_variant MELA-AU 5 95064346 95064346 single base substitution C T intron_variant MELA-AU 5 95064346 95064346 single base substitution C T upstream_gene_variant MELA-AU 5 95064721 95064721 single base substitution G A intron_variant MELA-AU 5 95064721 95064721 single base substitution G A upstream_gene_variant MELA-AU 5 95064927 95064927 single base substitution C T intron_variant MELA-AU 5 95064927 95064927 single base substitution C T upstream_gene_variant MELA-AU 5 95065293 95065293 single base substitution G A intron_variant MELA-AU 5 95065293 95065293 single base substitution G A upstream_gene_variant MELA-AU 5 95065547 95065547 single base substitution G A intron_variant MELA-AU 5 95065547 95065547 single base substitution G A upstream_gene_variant MELA-AU 5 95066378 95066378 single base substitution C T intron_variant MELA-AU 5 95066378 95066378 single base substitution C T upstream_gene_variant MELA-AU 5 95066633 95066633 single base substitution G A intron_variant MELA-AU 5 95066633 95066633 single base substitution G A upstream_gene_variant MELA-AU 5 95067847 95067847 single base substitution C T downstream_gene_variant MELA-AU 5 95067847 95067847 single base substitution C T intron_variant MELA-AU 5 95067847 95067847 single base substitution C T missense_variant S96F 287C>T MELA-AU 5 95067847 95067847 single base substitution C T upstream_gene_variant MELA-AU 5 95068277 95068277 single base substitution T C 3_prime_UTR_variant MELA-AU 5 95068277 95068277 single base substitution T C downstream_gene_variant MELA-AU 5 95068277 95068277 single base substitution T C intron_variant MELA-AU 5 95068277 95068277 single base substitution T C upstream_gene_variant MELA-AU 5 95068483 95068483 single base substitution C T downstream_gene_variant MELA-AU 5 95068483 95068483 single base substitution C T intron_variant MELA-AU 5 95068483 95068483 single base substitution C T upstream_gene_variant MELA-AU 5 95069393 95069406 deletion of <=200bp AGGTACAATTTTCT - downstream_gene_variant MELA-AU 5 95069393 95069406 deletion of <=200bp AGGTACAATTTTCT - intron_variant MELA-AU 5 95069393 95069406 deletion of <=200bp AGGTACAATTTTCT - upstream_gene_variant MELA-AU 5 95071994 95071994 single base substitution A C downstream_gene_variant MELA-AU 5 95071994 95071994 single base substitution A C intron_variant MELA-AU 5 95071994 95071994 single base substitution A C upstream_gene_variant MELA-AU 5 95072222 95072222 single base substitution T C downstream_gene_variant MELA-AU 5 95072222 95072222 single base substitution T C intron_variant MELA-AU 5 95072222 95072222 single base substitution T C upstream_gene_variant MELA-AU 5 95073845 95073853 deletion of <=200bp TCGTTACCC - downstream_gene_variant MELA-AU 5 95073845 95073853 deletion of <=200bp TCGTTACCC - intron_variant MELA-AU 5 95073955 95073955 single base substitution C T downstream_gene_variant MELA-AU 5 95073955 95073955 single base substitution C T intron_variant MELA-AU 5 95074282 95074282 single base substitution C T downstream_gene_variant MELA-AU 5 95074282 95074282 single base substitution C T intron_variant MELA-AU 5 95075138 95075138 single base substitution G A downstream_gene_variant MELA-AU 5 95075138 95075138 single base substitution G A intron_variant MELA-AU 5 95075950 95075950 single base substitution C T downstream_gene_variant MELA-AU 5 95075950 95075950 single base substitution C T intron_variant MELA-AU 5 95076828 95076828 single base substitution C T downstream_gene_variant MELA-AU 5 95076828 95076828 single base substitution C T intron_variant MELA-AU 5 95077882 95077882 single base substitution T C intron_variant MELA-AU 5 95077906 95077906 single base substitution C T intron_variant MELA-AU 5 95077919 95077919 single base substitution G A intron_variant MELA-AU 5 95078454 95078454 single base substitution C T intron_variant MELA-AU 5 95078489 95078489 single base substitution C T intron_variant MELA-AU 5 95078977 95078977 single base substitution C T intron_variant MELA-AU 5 95079090 95079090 single base substitution C T intron_variant MELA-AU 5 95080858 95080858 single base substitution C T intron_variant MELA-AU 5 95080865 95080865 single base substitution C T intron_variant MELA-AU 5 95080909 95080909 single base substitution G A intron_variant MELA-AU 5 95081206 95081206 single base substitution C T intron_variant MELA-AU 5 95081207 95081207 single base substitution C T intron_variant MELA-AU 5 95082844 95082844 single base substitution C T intron_variant MELA-AU 5 95083300 95083300 single base substitution A T intron_variant MELA-AU 5 95083652 95083652 single base substitution C T intron_variant MELA-AU 5 95084375 95084375 single base substitution C T downstream_gene_variant MELA-AU 5 95084375 95084375 single base substitution C T intron_variant MELA-AU 5 95085197 95085197 single base substitution A G downstream_gene_variant MELA-AU 5 95085197 95085197 single base substitution A G intron_variant MELA-AU 5 95085517 95085518 multiple base substitution (>=2bp and <=200bp) CC TA downstream_gene_variant MELA-AU 5 95085517 95085518 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 5 95085525 95085525 single base substitution C T downstream_gene_variant MELA-AU 5 95085525 95085525 single base substitution C T intron_variant MELA-AU 5 95086333 95086333 single base substitution C T downstream_gene_variant MELA-AU 5 95086333 95086333 single base substitution C T intron_variant MELA-AU 5 95086347 95086347 single base substitution G T downstream_gene_variant MELA-AU 5 95086347 95086347 single base substitution G T intron_variant MELA-AU 5 95086599 95086599 single base substitution C T downstream_gene_variant MELA-AU 5 95086599 95086599 single base substitution C T intron_variant MELA-AU 5 95086782 95086782 single base substitution T C downstream_gene_variant MELA-AU 5 95086782 95086782 single base substitution T C intron_variant MELA-AU 5 95086903 95086903 single base substitution C T downstream_gene_variant MELA-AU 5 95086903 95086903 single base substitution C T intron_variant MELA-AU 5 95087331 95087331 single base substitution C T downstream_gene_variant MELA-AU 5 95087331 95087331 single base substitution C T intron_variant MELA-AU 5 95087427 95087427 single base substitution C T downstream_gene_variant MELA-AU 5 95087427 95087427 single base substitution C T intron_variant MELA-AU 5 95087572 95087572 single base substitution C T downstream_gene_variant MELA-AU 5 95087572 95087572 single base substitution C T intron_variant MELA-AU 5 95087629 95087629 single base substitution C T downstream_gene_variant MELA-AU 5 95087629 95087629 single base substitution C T intron_variant MELA-AU 5 95088051 95088051 single base substitution C T downstream_gene_variant MELA-AU 5 95088051 95088051 single base substitution C T exon_variant MELA-AU 5 95088051 95088051 single base substitution C T intron_variant MELA-AU 5 95088051 95088051 single base substitution C T missense_variant P227S 679C>T MELA-AU 5 95088196 95088196 single base substitution C A downstream_gene_variant MELA-AU 5 95088196 95088196 single base substitution C A intron_variant MELA-AU 5 95089373 95089373 single base substitution C T downstream_gene_variant MELA-AU 5 95089373 95089373 single base substitution C T intron_variant MELA-AU 5 95089381 95089381 single base substitution C T downstream_gene_variant MELA-AU 5 95089381 95089381 single base substitution C T intron_variant MELA-AU 5 95089382 95089382 single base substitution C T downstream_gene_variant MELA-AU 5 95089382 95089382 single base substitution C T intron_variant MELA-AU 5 95089747 95089747 single base substitution T C downstream_gene_variant MELA-AU 5 95089747 95089747 single base substitution T C intron_variant MELA-AU 5 95091049 95091049 single base substitution G A downstream_gene_variant MELA-AU 5 95091049 95091049 single base substitution G A intron_variant MELA-AU 5 95091879 95091879 single base substitution C T downstream_gene_variant MELA-AU 5 95091879 95091879 single base substitution C T intron_variant MELA-AU 5 95092447 95092447 single base substitution C T downstream_gene_variant MELA-AU 5 95092447 95092447 single base substitution C T intron_variant MELA-AU 5 95093158 95093158 single base substitution G A downstream_gene_variant MELA-AU 5 95093158 95093158 single base substitution G A intron_variant MELA-AU 5 95095109 95095109 single base substitution G A downstream_gene_variant MELA-AU 5 95095109 95095109 single base substitution G A intron_variant MELA-AU 5 95095220 95095220 single base substitution C T downstream_gene_variant MELA-AU 5 95095220 95095220 single base substitution C T intron_variant MELA-AU 5 95095513 95095513 deletion of <=200bp A - downstream_gene_variant MELA-AU 5 95095513 95095513 deletion of <=200bp A - intron_variant MELA-AU 5 95096776 95096776 single base substitution C T downstream_gene_variant MELA-AU 5 95096776 95096776 single base substitution C T intron_variant MELA-AU 5 95097510 95097510 single base substitution C T intron_variant MELA-AU 5 95097599 95097599 single base substitution C T intron_variant MELA-AU 5 95098259 95098259 single base substitution G A intron_variant MELA-AU 5 95098801 95098801 single base substitution A T intron_variant MELA-AU 5 95098801 95098801 single base substitution A T upstream_gene_variant MELA-AU 5 95099187 95099187 single base substitution C T intron_variant MELA-AU 5 95099187 95099187 single base substitution C T upstream_gene_variant MELA-AU 5 95099739 95099739 single base substitution C A downstream_gene_variant MELA-AU 5 95099739 95099739 single base substitution C A intron_variant MELA-AU 5 95099739 95099739 single base substitution C A upstream_gene_variant MELA-AU 5 95102415 95102415 single base substitution G A downstream_gene_variant MELA-AU 5 95102415 95102415 single base substitution G A intron_variant MELA-AU 5 95102415 95102415 single base substitution G A upstream_gene_variant MELA-AU 5 95102531 95102531 single base substitution G A downstream_gene_variant MELA-AU 5 95102531 95102531 single base substitution G A intron_variant MELA-AU 5 95102531 95102531 single base substitution G A upstream_gene_variant MELA-AU 5 95102549 95102549 single base substitution C T downstream_gene_variant MELA-AU 5 95102549 95102549 single base substitution C T intron_variant MELA-AU 5 95102549 95102549 single base substitution C T upstream_gene_variant MELA-AU 5 95103698 95103698 single base substitution T C downstream_gene_variant MELA-AU 5 95103698 95103698 single base substitution T C intron_variant MELA-AU 5 95103698 95103698 single base substitution T C upstream_gene_variant MELA-AU 5 95103724 95103724 single base substitution C T downstream_gene_variant MELA-AU 5 95103724 95103724 single base substitution C T intron_variant MELA-AU 5 95103724 95103724 single base substitution C T upstream_gene_variant MELA-AU 5 95103827 95103827 single base substitution C T downstream_gene_variant MELA-AU 5 95103827 95103827 single base substitution C T synonymous_variant F413F 1239C>T MELA-AU 5 95103827 95103827 single base substitution C T synonymous_variant F44F 132C>T MELA-AU 5 95103827 95103827 single base substitution C T upstream_gene_variant MELA-AU 5 95103906 95103906 single base substitution T A downstream_gene_variant MELA-AU 5 95103906 95103906 single base substitution T A intron_variant MELA-AU 5 95104089 95104089 single base substitution C T downstream_gene_variant MELA-AU 5 95104089 95104089 single base substitution C T intron_variant MELA-AU 5 95104259 95104259 single base substitution C T intron_variant MELA-AU 5 95105392 95105392 single base substitution C T intron_variant MELA-AU 5 95105898 95105898 single base substitution C T intron_variant MELA-AU 5 95106386 95106386 single base substitution T G intron_variant MELA-AU 5 95106841 95106841 single base substitution C T intron_variant MELA-AU 5 95106935 95106935 single base substitution G A intron_variant MELA-AU 5 95107690 95107690 single base substitution C T intron_variant MELA-AU 5 95108237 95108237 single base substitution C T intron_variant MELA-AU 5 95108483 95108483 single base substitution C T intron_variant MELA-AU 5 95108763 95108763 single base substitution C T intron_variant MELA-AU 5 95109762 95109762 single base substitution C T intron_variant MELA-AU 5 95110034 95110034 single base substitution C T intron_variant MELA-AU 5 95110282 95110282 single base substitution C T intron_variant MELA-AU 5 95111233 95111233 single base substitution T A intron_variant MELA-AU 5 95111233 95111233 single base substitution T A upstream_gene_variant MELA-AU 5 95112567 95112567 single base substitution C T intron_variant MELA-AU 5 95112567 95112567 single base substitution C T upstream_gene_variant MELA-AU 5 95112616 95112616 single base substitution C T intron_variant MELA-AU 5 95112616 95112616 single base substitution C T upstream_gene_variant MELA-AU 5 95113146 95113146 single base substitution G A intron_variant MELA-AU 5 95113146 95113146 single base substitution G A upstream_gene_variant MELA-AU 5 95113242 95113242 single base substitution G A intron_variant MELA-AU 5 95113242 95113242 single base substitution G A upstream_gene_variant MELA-AU 5 95113510 95113510 single base substitution T C intron_variant MELA-AU 5 95113510 95113510 single base substitution T C upstream_gene_variant MELA-AU 5 95113818 95113818 single base substitution A G intron_variant MELA-AU 5 95113818 95113818 single base substitution A G upstream_gene_variant MELA-AU 5 95114663 95114663 single base substitution A G intron_variant MELA-AU 5 95114663 95114663 single base substitution A G upstream_gene_variant MELA-AU 5 95115719 95115719 single base substitution A C exon_variant MELA-AU 5 95115719 95115719 single base substitution A C intron_variant MELA-AU 5 95115719 95115719 single base substitution A C upstream_gene_variant MELA-AU 5 95115900 95115900 single base substitution G A exon_variant MELA-AU 5 95115900 95115900 single base substitution G A intron_variant MELA-AU 5 95115900 95115900 single base substitution G A upstream_gene_variant MELA-AU 5 95116365 95116365 single base substitution T C intron_variant MELA-AU 5 95116365 95116365 single base substitution T C upstream_gene_variant MELA-AU 5 95118072 95118072 single base substitution G A intron_variant MELA-AU 5 95118072 95118072 single base substitution G A upstream_gene_variant MELA-AU 5 95119555 95119555 single base substitution C T exon_variant MELA-AU 5 95119555 95119555 single base substitution C T missense_variant S135F 404C>T MELA-AU 5 95119555 95119555 single base substitution C T missense_variant S504F 1511C>T MELA-AU 5 95119555 95119555 single base substitution C T missense_variant S6F 17C>T MELA-AU 5 95119555 95119555 single base substitution C T missense_variant S85F 254C>T MELA-AU 5 95119555 95119555 single base substitution C T upstream_gene_variant MELA-AU 5 95120020 95120021 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 95120020 95120021 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 95120020 95120021 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 95121509 95121509 single base substitution C T downstream_gene_variant MELA-AU 5 95121509 95121509 single base substitution C T intron_variant MELA-AU 5 95121509 95121509 single base substitution C T upstream_gene_variant MELA-AU 5 95121667 95121667 single base substitution C T downstream_gene_variant MELA-AU 5 95121667 95121667 single base substitution C T intron_variant MELA-AU 5 95121667 95121667 single base substitution C T upstream_gene_variant MELA-AU 5 95122330 95122330 single base substitution C T downstream_gene_variant MELA-AU 5 95122330 95122330 single base substitution C T intron_variant MELA-AU 5 95122330 95122330 single base substitution C T upstream_gene_variant MELA-AU 5 95122341 95122341 single base substitution T C downstream_gene_variant MELA-AU 5 95122341 95122341 single base substitution T C intron_variant MELA-AU 5 95122341 95122341 single base substitution T C upstream_gene_variant MELA-AU 5 95122588 95122588 single base substitution C T downstream_gene_variant MELA-AU 5 95122588 95122588 single base substitution C T intron_variant MELA-AU 5 95122588 95122588 single base substitution C T upstream_gene_variant MELA-AU 5 95122881 95122881 single base substitution G A downstream_gene_variant MELA-AU 5 95122881 95122881 single base substitution G A intron_variant MELA-AU 5 95122881 95122881 single base substitution G A upstream_gene_variant MELA-AU 5 95124942 95124942 single base substitution T C 3_prime_UTR_variant MELA-AU 5 95124942 95124942 single base substitution T C downstream_gene_variant MELA-AU 5 95124942 95124942 single base substitution T C intron_variant MELA-AU 5 95125460 95125460 single base substitution C T downstream_gene_variant MELA-AU 5 95125460 95125460 single base substitution C T intron_variant MELA-AU 5 95125567 95125567 single base substitution C T downstream_gene_variant MELA-AU 5 95125567 95125567 single base substitution C T intron_variant MELA-AU 5 95126069 95126069 single base substitution C T downstream_gene_variant MELA-AU 5 95126069 95126069 single base substitution C T intron_variant MELA-AU 5 95126431 95126431 single base substitution C T downstream_gene_variant MELA-AU 5 95126431 95126431 single base substitution C T intron_variant MELA-AU 5 95126820 95126820 single base substitution C T downstream_gene_variant MELA-AU 5 95126820 95126820 single base substitution C T intron_variant MELA-AU 5 95127120 95127120 single base substitution G A downstream_gene_variant MELA-AU 5 95127120 95127120 single base substitution G A intron_variant MELA-AU 5 95128441 95128441 single base substitution A C downstream_gene_variant MELA-AU 5 95128441 95128441 single base substitution A C intron_variant MELA-AU 5 95128904 95128904 single base substitution C T 3_prime_UTR_variant MELA-AU 5 95128904 95128904 single base substitution C T downstream_gene_variant MELA-AU 5 95128904 95128904 single base substitution C T intron_variant MELA-AU 5 95129274 95129274 single base substitution C T 3_prime_UTR_variant MELA-AU 5 95129274 95129274 single base substitution C T downstream_gene_variant MELA-AU 5 95129274 95129274 single base substitution C T intron_variant MELA-AU 5 95129323 95129323 single base substitution C T 3_prime_UTR_variant MELA-AU 5 95129323 95129323 single base substitution C T downstream_gene_variant MELA-AU 5 95129323 95129323 single base substitution C T intron_variant MELA-AU 5 95129667 95129667 single base substitution C T 3_prime_UTR_variant MELA-AU 5 95129667 95129667 single base substitution C T downstream_gene_variant MELA-AU 5 95129667 95129667 single base substitution C T intron_variant MELA-AU 5 95129761 95129761 single base substitution C T 3_prime_UTR_variant MELA-AU 5 95129761 95129761 single base substitution C T downstream_gene_variant MELA-AU 5 95129761 95129761 single base substitution C T intron_variant MELA-AU 5 95129785 95129785 single base substitution G A 3_prime_UTR_variant MELA-AU 5 95129785 95129785 single base substitution G A downstream_gene_variant MELA-AU 5 95129785 95129785 single base substitution G A intron_variant MELA-AU 5 95129947 95129947 single base substitution T C 3_prime_UTR_variant MELA-AU 5 95129947 95129947 single base substitution T C downstream_gene_variant MELA-AU 5 95129947 95129947 single base substitution T C intron_variant MELA-AU 5 95130148 95130148 single base substitution G A 3_prime_UTR_variant MELA-AU 5 95130148 95130148 single base substitution G A downstream_gene_variant MELA-AU 5 95130148 95130148 single base substitution G A intron_variant MELA-AU 5 95130887 95130887 single base substitution T C 3_prime_UTR_variant MELA-AU 5 95130887 95130887 single base substitution T C downstream_gene_variant MELA-AU 5 95130887 95130887 single base substitution T C intron_variant MELA-AU 5 95131060 95131060 single base substitution G A 3_prime_UTR_variant MELA-AU 5 95131060 95131060 single base substitution G A downstream_gene_variant MELA-AU 5 95131060 95131060 single base substitution G A intron_variant MELA-AU 5 95131449 95131449 deletion of <=200bp T - 3_prime_UTR_variant MELA-AU 5 95131449 95131449 deletion of <=200bp T - downstream_gene_variant MELA-AU 5 95131449 95131449 deletion of <=200bp T - intron_variant MELA-AU 5 95131782 95131782 single base substitution C T 3_prime_UTR_variant MELA-AU 5 95131782 95131782 single base substitution C T downstream_gene_variant MELA-AU 5 95131782 95131782 single base substitution C T intron_variant MELA-AU 5 95131903 95131903 single base substitution C T 3_prime_UTR_variant MELA-AU 5 95131903 95131903 single base substitution C T downstream_gene_variant MELA-AU 5 95131903 95131903 single base substitution C T intron_variant MELA-AU 5 95133389 95133389 single base substitution C T downstream_gene_variant MELA-AU 5 95133389 95133389 single base substitution C T intron_variant MELA-AU 5 95135045 95135045 single base substitution C T downstream_gene_variant MELA-AU 5 95135045 95135045 single base substitution C T intron_variant MELA-AU 5 95135334 95135334 single base substitution C T downstream_gene_variant MELA-AU 5 95135334 95135334 single base substitution C T intron_variant MELA-AU 5 95136116 95136117 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 95136116 95136117 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 95136195 95136196 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 95136195 95136196 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 95136336 95136336 single base substitution G A downstream_gene_variant MELA-AU 5 95136336 95136336 single base substitution G A intron_variant MELA-AU 5 95136705 95136705 single base substitution C T downstream_gene_variant MELA-AU 5 95136705 95136705 single base substitution C T intron_variant MELA-AU 5 95136938 95136938 single base substitution G A downstream_gene_variant MELA-AU 5 95136938 95136938 single base substitution G A intron_variant MELA-AU 5 95136967 95136967 single base substitution C T downstream_gene_variant MELA-AU 5 95136967 95136967 single base substitution C T intron_variant MELA-AU 5 95137496 95137496 single base substitution C T intron_variant MELA-AU 5 95137814 95137814 single base substitution C T intron_variant MELA-AU 5 95137971 95137971 single base substitution A G intron_variant MELA-AU 5 95138094 95138094 single base substitution C T intron_variant MELA-AU 5 95138164 95138164 single base substitution C T intron_variant MELA-AU 5 95138301 95138301 single base substitution C T intron_variant MELA-AU 5 95138386 95138386 single base substitution C T intron_variant MELA-AU 5 95138775 95138775 single base substitution G A intron_variant MELA-AU 5 95139187 95139187 single base substitution G A intron_variant MELA-AU 5 95139366 95139367 multiple base substitution (>=2bp and <=200bp) GA TT intron_variant MELA-AU 5 95139924 95139924 single base substitution T C intron_variant MELA-AU 5 95140886 95140886 single base substitution G A intron_variant MELA-AU 5 95141008 95141008 single base substitution C T intron_variant MELA-AU 5 95142757 95142757 single base substitution A T intron_variant MELA-AU 5 95143617 95143617 single base substitution G A intron_variant MELA-AU 5 95143711 95143711 single base substitution C T intron_variant MELA-AU 5 95143780 95143780 single base substitution G A intron_variant MELA-AU 5 95144676 95144676 single base substitution T C intron_variant MELA-AU 5 95144710 95144710 single base substitution G A intron_variant MELA-AU 5 95144869 95144869 single base substitution G A intron_variant MELA-AU 5 95145055 95145055 single base substitution C T intron_variant MELA-AU 5 95145364 95145364 single base substitution C T intron_variant MELA-AU 5 95145974 95145974 single base substitution G A intron_variant MELA-AU 5 95146443 95146443 single base substitution T C intron_variant MELA-AU 5 95147597 95147597 single base substitution C T intron_variant MELA-AU 5 95148571 95148571 single base substitution C T intron_variant MELA-AU 5 95148849 95148849 single base substitution C T intron_variant MELA-AU 5 95149232 95149232 single base substitution G T intron_variant MELA-AU 5 95149249 95149249 single base substitution G A intron_variant MELA-AU 5 95149535 95149535 single base substitution C T intron_variant MELA-AU 5 95150210 95150210 single base substitution C T intron_variant MELA-AU 5 95150510 95150510 single base substitution C T intron_variant MELA-AU 5 95151379 95151379 single base substitution C T intron_variant MELA-AU 5 95151714 95151714 single base substitution C A intron_variant MELA-AU 5 95151788 95151788 single base substitution G A intron_variant MELA-AU 5 95152427 95152427 single base substitution C T intron_variant MELA-AU 5 95152935 95152949 deletion of <=200bp ATCGTGAGACCCCGT - intron_variant MELA-AU 5 95154099 95154099 single base substitution C T intron_variant MELA-AU 5 95154435 95154435 single base substitution T C intron_variant MELA-AU 5 95155588 95155588 single base substitution G A intron_variant MELA-AU 5 95155711 95155711 single base substitution C T intron_variant MELA-AU 5 95156288 95156288 single base substitution C T intron_variant MELA-AU 5 95157170 95157170 single base substitution G A intron_variant MELA-AU 5 95157639 95157639 single base substitution T G intron_variant MELA-AU 5 95158305 95158306 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 95158474 95158474 single base substitution G A intron_variant MELA-AU 5 95158514 95158514 single base substitution G A intron_variant MELA-AU 5 95159459 95159460 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 95159550 95159550 single base substitution T G missense_variant M18R 53T>G MELA-AU 5 95159988 95159988 single base substitution T C 3_prime_UTR_variant MELA-AU 5 95160157 95160157 single base substitution C T downstream_gene_variant MELA-AU 5 95160389 95160389 single base substitution C T downstream_gene_variant MELA-AU 5 95160551 95160551 single base substitution G A downstream_gene_variant MELA-AU 5 95160654 95160654 single base substitution G A downstream_gene_variant MELA-AU 5 95161257 95161257 single base substitution G A downstream_gene_variant MELA-AU 5 95161675 95161675 single base substitution T A downstream_gene_variant MELA-AU 5 95161967 95161967 single base substitution C T downstream_gene_variant MELA-AU 5 95162110 95162110 single base substitution G T downstream_gene_variant MELA-AU 5 95162280 95162280 single base substitution G A downstream_gene_variant MELA-AU 5 95162285 95162285 single base substitution C T downstream_gene_variant MELA-AU 5 95162334 95162334 single base substitution C T downstream_gene_variant MELA-AU 5 95162396 95162397 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 95162405 95162405 single base substitution C T downstream_gene_variant MELA-AU 5 95162759 95162759 single base substitution C T downstream_gene_variant MELA-AU 5 95163087 95163087 single base substitution C T downstream_gene_variant MELA-AU 5 95163208 95163208 single base substitution G T downstream_gene_variant MELA-AU 5 95163211 95163211 single base substitution C T downstream_gene_variant MELA-AU 5 95163279 95163279 single base substitution C T downstream_gene_variant MELA-AU 5 95163299 95163299 single base substitution C T downstream_gene_variant MELA-AU 5 95163450 95163450 single base substitution T C downstream_gene_variant MELA-AU 5 95163581 95163581 single base substitution G A downstream_gene_variant MELA-AU 5 95164105 95164105 single base substitution C T downstream_gene_variant MELA-AU 5 95164150 95164150 single base substitution G A downstream_gene_variant MELA-AU 5 95164674 95164674 single base substitution G A downstream_gene_variant ORCA-IN 5 95059854 95059854 single base substitution A G intron_variant ORCA-IN 5 95139319 95139319 single base substitution C T intron_variant ORCA-IN 5 95158184 95158184 single base substitution C A intron_variant OV-AU 5 95044749 95044749 single base substitution G C upstream_gene_variant OV-AU 5 95051217 95051217 single base substitution G T intron_variant OV-AU 5 95051217 95051217 single base substitution G T upstream_gene_variant OV-AU 5 95056046 95056046 single base substitution C A intron_variant OV-AU 5 95056839 95056839 single base substitution A C intron_variant OV-AU 5 95061108 95061108 single base substitution T C intron_variant OV-AU 5 95069529 95069529 single base substitution T A downstream_gene_variant OV-AU 5 95069529 95069529 single base substitution T A intron_variant OV-AU 5 95069529 95069529 single base substitution T A upstream_gene_variant OV-AU 5 95073513 95073513 single base substitution G A downstream_gene_variant OV-AU 5 95073513 95073513 single base substitution G A intron_variant OV-AU 5 95075941 95075941 single base substitution A G downstream_gene_variant OV-AU 5 95075941 95075941 single base substitution A G intron_variant OV-AU 5 95076884 95076884 single base substitution T A downstream_gene_variant OV-AU 5 95076884 95076884 single base substitution T A intron_variant OV-AU 5 95078605 95078605 single base substitution T C intron_variant OV-AU 5 95089740 95089740 single base substitution G A downstream_gene_variant OV-AU 5 95089740 95089740 single base substitution G A intron_variant OV-AU 5 95090474 95090474 single base substitution A T downstream_gene_variant OV-AU 5 95090474 95090474 single base substitution A T intron_variant OV-AU 5 95091564 95091564 single base substitution C A downstream_gene_variant OV-AU 5 95091564 95091564 single base substitution C A exon_variant OV-AU 5 95091564 95091564 single base substitution C A intron_variant OV-AU 5 95102221 95102221 single base substitution T G downstream_gene_variant OV-AU 5 95102221 95102221 single base substitution T G intron_variant OV-AU 5 95102221 95102221 single base substitution T G upstream_gene_variant OV-AU 5 95106574 95106574 single base substitution G A intron_variant OV-AU 5 95109095 95109095 single base substitution A T intron_variant OV-AU 5 95109636 95109636 single base substitution G A intron_variant OV-AU 5 95119944 95119944 single base substitution G T downstream_gene_variant OV-AU 5 95119944 95119944 single base substitution G T intron_variant OV-AU 5 95119944 95119944 single base substitution G T upstream_gene_variant OV-AU 5 95123351 95123351 single base substitution G C downstream_gene_variant OV-AU 5 95123351 95123351 single base substitution G C intron_variant OV-AU 5 95123351 95123351 single base substitution G C upstream_gene_variant OV-AU 5 95126446 95126446 single base substitution A G downstream_gene_variant OV-AU 5 95126446 95126446 single base substitution A G intron_variant OV-AU 5 95132419 95132419 single base substitution A C downstream_gene_variant OV-AU 5 95132419 95132419 single base substitution A C intron_variant OV-AU 5 95136000 95136000 single base substitution A G downstream_gene_variant OV-AU 5 95136000 95136000 single base substitution A G intron_variant OV-AU 5 95139884 95139884 single base substitution G C intron_variant OV-AU 5 95149558 95149558 single base substitution G T intron_variant OV-AU 5 95160407 95160407 single base substitution C A downstream_gene_variant OV-AU 5 95163230 95163230 single base substitution G T downstream_gene_variant OV-AU 5 95164445 95164445 single base substitution A G downstream_gene_variant PACA-AU 5 95044477 95044477 single base substitution C T upstream_gene_variant PACA-AU 5 95048871 95048871 deletion of <=200bp T - upstream_gene_variant PACA-AU 5 95049096 95049096 single base substitution C T upstream_gene_variant PACA-AU 5 95049620 95049621 deletion of <=200bp AT - intron_variant PACA-AU 5 95049620 95049621 deletion of <=200bp AT - upstream_gene_variant PACA-AU 5 95051249 95051249 single base substitution A C intron_variant PACA-AU 5 95051249 95051249 single base substitution A C upstream_gene_variant PACA-AU 5 95051654 95051654 single base substitution G T intron_variant PACA-AU 5 95051654 95051654 single base substitution G T upstream_gene_variant PACA-AU 5 95057963 95057963 single base substitution A G intron_variant PACA-AU 5 95063998 95063998 single base substitution G A intron_variant PACA-AU 5 95063998 95063998 single base substitution G A upstream_gene_variant PACA-AU 5 95065567 95065567 single base substitution C T intron_variant PACA-AU 5 95065567 95065567 single base substitution C T upstream_gene_variant PACA-AU 5 95072814 95072814 single base substitution G A downstream_gene_variant PACA-AU 5 95072814 95072814 single base substitution G A intron_variant PACA-AU 5 95076150 95076150 single base substitution A G downstream_gene_variant PACA-AU 5 95076150 95076150 single base substitution A G intron_variant PACA-AU 5 95081128 95081128 single base substitution T G intron_variant PACA-AU 5 95084829 95084829 single base substitution G T downstream_gene_variant PACA-AU 5 95084829 95084829 single base substitution G T intron_variant PACA-AU 5 95090740 95090740 single base substitution C T downstream_gene_variant PACA-AU 5 95090740 95090740 single base substitution C T intron_variant PACA-AU 5 95091417 95091417 single base substitution G A 3_prime_UTR_variant PACA-AU 5 95091417 95091417 single base substitution G A downstream_gene_variant PACA-AU 5 95091417 95091417 single base substitution G A exon_variant PACA-AU 5 95091417 95091417 single base substitution G A missense_variant A334T 1000G>A PACA-AU 5 95091499 95091499 single base substitution C G downstream_gene_variant PACA-AU 5 95091499 95091499 single base substitution C G exon_variant PACA-AU 5 95091499 95091499 single base substitution C G intron_variant PACA-AU 5 95094875 95094875 single base substitution G C downstream_gene_variant PACA-AU 5 95094875 95094875 single base substitution G C intron_variant PACA-AU 5 95097231 95097231 single base substitution G T intron_variant PACA-AU 5 95102301 95102301 single base substitution A T downstream_gene_variant PACA-AU 5 95102301 95102301 single base substitution A T intron_variant PACA-AU 5 95102301 95102301 single base substitution A T upstream_gene_variant PACA-AU 5 95103875 95103875 single base substitution G A downstream_gene_variant PACA-AU 5 95103875 95103875 single base substitution G A intron_variant PACA-AU 5 95103875 95103875 single base substitution G A splice_region_variant PACA-AU 5 95104524 95104524 single base substitution T C intron_variant PACA-AU 5 95104966 95104966 single base substitution A C intron_variant PACA-AU 5 95109454 95109454 single base substitution T C intron_variant PACA-AU 5 95112373 95112373 single base substitution C A intron_variant PACA-AU 5 95112373 95112373 single base substitution C A upstream_gene_variant PACA-AU 5 95117999 95117999 single base substitution G A intron_variant PACA-AU 5 95117999 95117999 single base substitution G A upstream_gene_variant PACA-AU 5 95118235 95118235 single base substitution G A intron_variant PACA-AU 5 95118235 95118235 single base substitution G A upstream_gene_variant PACA-AU 5 95120393 95120393 single base substitution A T downstream_gene_variant PACA-AU 5 95120393 95120393 single base substitution A T intron_variant PACA-AU 5 95120393 95120393 single base substitution A T upstream_gene_variant PACA-AU 5 95133714 95133714 single base substitution C T downstream_gene_variant PACA-AU 5 95133714 95133714 single base substitution C T intron_variant PACA-AU 5 95135131 95135131 single base substitution G A downstream_gene_variant PACA-AU 5 95135131 95135131 single base substitution G A intron_variant PACA-AU 5 95137355 95137355 single base substitution C T intron_variant PACA-AU 5 95137753 95137753 single base substitution G T intron_variant PACA-AU 5 95162017 95162017 single base substitution G T downstream_gene_variant PACA-AU 5 95164961 95164961 single base substitution T A downstream_gene_variant PACA-CA 5 95054516 95054516 single base substitution G A intron_variant PACA-CA 5 95054896 95054896 single base substitution G C intron_variant PACA-CA 5 95059266 95059266 single base substitution T G intron_variant PACA-CA 5 95061313 95061313 single base substitution T C intron_variant PACA-CA 5 95066969 95066969 single base substitution T C 5_prime_UTR_variant PACA-CA 5 95066969 95066969 single base substitution T C intron_variant PACA-CA 5 95066969 95066969 single base substitution T C upstream_gene_variant PACA-CA 5 95068126 95068126 deletion of <=200bp T - 3_prime_UTR_variant PACA-CA 5 95068126 95068126 deletion of <=200bp T - downstream_gene_variant PACA-CA 5 95068126 95068126 deletion of <=200bp T - intron_variant PACA-CA 5 95068126 95068126 deletion of <=200bp T - upstream_gene_variant PACA-CA 5 95068463 95068463 single base substitution G A downstream_gene_variant PACA-CA 5 95068463 95068463 single base substitution G A intron_variant PACA-CA 5 95068463 95068463 single base substitution G A upstream_gene_variant PACA-CA 5 95073365 95073365 single base substitution T C downstream_gene_variant PACA-CA 5 95073365 95073365 single base substitution T C intron_variant PACA-CA 5 95075253 95075253 single base substitution A T downstream_gene_variant PACA-CA 5 95075253 95075253 single base substitution A T intron_variant PACA-CA 5 95075762 95075762 single base substitution T A downstream_gene_variant PACA-CA 5 95075762 95075762 single base substitution T A intron_variant PACA-CA 5 95076123 95076123 single base substitution T G downstream_gene_variant PACA-CA 5 95076123 95076123 single base substitution T G intron_variant PACA-CA 5 95076142 95076142 single base substitution T G downstream_gene_variant PACA-CA 5 95076142 95076142 single base substitution T G intron_variant PACA-CA 5 95079734 95079734 single base substitution C G intron_variant PACA-CA 5 95080887 95080887 single base substitution A C intron_variant PACA-CA 5 95090824 95090824 single base substitution C T downstream_gene_variant PACA-CA 5 95090824 95090824 single base substitution C T intron_variant PACA-CA 5 95091155 95091166 deletion of <=200bp CTTGCTGTTCTG - 3_prime_UTR_variant PACA-CA 5 95091155 95091166 deletion of <=200bp CTTGCTGTTCTG - downstream_gene_variant PACA-CA 5 95091155 95091166 deletion of <=200bp CTTGCTGTTCTG - exon_variant PACA-CA 5 95091155 95091166 deletion of <=200bp CTTGCTGTTCTG - inframe_deletion NLLFC246N PACA-CA 5 95093355 95093355 single base substitution C A downstream_gene_variant PACA-CA 5 95093355 95093355 single base substitution C A intron_variant PACA-CA 5 95096608 95096608 single base substitution G T downstream_gene_variant PACA-CA 5 95096608 95096608 single base substitution G T intron_variant PACA-CA 5 95099315 95099315 insertion of <=200bp - C downstream_gene_variant PACA-CA 5 95099315 95099315 insertion of <=200bp - C frameshift_variant T384T? PACA-CA 5 95099315 95099315 insertion of <=200bp - C upstream_gene_variant PACA-CA 5 95099862 95099862 single base substitution G T downstream_gene_variant PACA-CA 5 95099862 95099862 single base substitution G T intron_variant PACA-CA 5 95099862 95099862 single base substitution G T upstream_gene_variant PACA-CA 5 95101104 95101104 single base substitution G A downstream_gene_variant PACA-CA 5 95101104 95101104 single base substitution G A intron_variant PACA-CA 5 95101104 95101104 single base substitution G A upstream_gene_variant PACA-CA 5 95102316 95102316 single base substitution A G downstream_gene_variant PACA-CA 5 95102316 95102316 single base substitution A G intron_variant PACA-CA 5 95102316 95102316 single base substitution A G upstream_gene_variant PACA-CA 5 95103226 95103226 single base substitution G A downstream_gene_variant PACA-CA 5 95103226 95103226 single base substitution G A intron_variant PACA-CA 5 95103226 95103226 single base substitution G A upstream_gene_variant PACA-CA 5 95104658 95104658 single base substitution C T intron_variant PACA-CA 5 95108892 95108892 single base substitution G A intron_variant PACA-CA 5 95110190 95110190 single base substitution G T intron_variant PACA-CA 5 95112466 95112466 single base substitution C T intron_variant PACA-CA 5 95112466 95112466 single base substitution C T upstream_gene_variant PACA-CA 5 95118122 95118122 single base substitution T A intron_variant PACA-CA 5 95118122 95118122 single base substitution T A upstream_gene_variant PACA-CA 5 95120062 95120062 single base substitution C T downstream_gene_variant PACA-CA 5 95120062 95120062 single base substitution C T intron_variant PACA-CA 5 95120062 95120062 single base substitution C T upstream_gene_variant PACA-CA 5 95121788 95121788 single base substitution A G downstream_gene_variant PACA-CA 5 95121788 95121788 single base substitution A G intron_variant PACA-CA 5 95121788 95121788 single base substitution A G upstream_gene_variant PACA-CA 5 95124367 95124367 single base substitution A G downstream_gene_variant PACA-CA 5 95124367 95124367 single base substitution A G intron_variant PACA-CA 5 95124367 95124367 single base substitution A G upstream_gene_variant PACA-CA 5 95129592 95129592 single base substitution G A 3_prime_UTR_variant PACA-CA 5 95129592 95129592 single base substitution G A downstream_gene_variant PACA-CA 5 95129592 95129592 single base substitution G A intron_variant PACA-CA 5 95131178 95131178 deletion of <=200bp A - 3_prime_UTR_variant PACA-CA 5 95131178 95131178 deletion of <=200bp A - downstream_gene_variant PACA-CA 5 95131178 95131178 deletion of <=200bp A - intron_variant PACA-CA 5 95135515 95135515 single base substitution T C downstream_gene_variant PACA-CA 5 95135515 95135515 single base substitution T C intron_variant PACA-CA 5 95135693 95135693 single base substitution G A downstream_gene_variant PACA-CA 5 95135693 95135693 single base substitution G A intron_variant PACA-CA 5 95139530 95139530 single base substitution C T intron_variant PACA-CA 5 95141667 95141667 single base substitution C G intron_variant PACA-CA 5 95148008 95148008 single base substitution G A intron_variant PACA-CA 5 95148314 95148314 single base substitution C T intron_variant PACA-CA 5 95149400 95149400 single base substitution G C intron_variant PACA-CA 5 95152947 95152947 single base substitution C A intron_variant PACA-CA 5 95153881 95153881 single base substitution C T intron_variant PACA-CA 5 95154240 95154240 single base substitution T G intron_variant PACA-CA 5 95158413 95158413 single base substitution T C intron_variant PACA-CA 5 95163381 95163381 single base substitution T A downstream_gene_variant PACA-CA 5 95164961 95164961 insertion of <=200bp - A downstream_gene_variant PAEN-AU 5 95096501 95096501 single base substitution C T downstream_gene_variant PAEN-AU 5 95096501 95096501 single base substitution C T intron_variant PAEN-AU 5 95111096 95111096 single base substitution G A intron_variant PAEN-AU 5 95111096 95111096 single base substitution G A upstream_gene_variant PAEN-AU 5 95156756 95156756 single base substitution A G intron_variant PAEN-AU 5 95162792 95162792 single base substitution C A downstream_gene_variant PAEN-IT 5 95080806 95080806 single base substitution A T intron_variant PAEN-IT 5 95104216 95104216 single base substitution C A downstream_gene_variant PAEN-IT 5 95104216 95104216 single base substitution C A intron_variant PAEN-IT 5 95106415 95106415 single base substitution A G intron_variant PAEN-IT 5 95159642 95159642 single base substitution T A missense_variant S49T 145T>A PAEN-IT 5 95163375 95163375 single base substitution C A downstream_gene_variant PBCA-DE 5 95050346 95050349 deletion of <=200bp AGAG - intron_variant PBCA-DE 5 95050346 95050349 deletion of <=200bp AGAG - upstream_gene_variant PBCA-DE 5 95056620 95056620 single base substitution G A intron_variant PBCA-DE 5 95058888 95058888 deletion of <=200bp A - intron_variant PBCA-DE 5 95068659 95068660 deletion of <=200bp AG - downstream_gene_variant PBCA-DE 5 95068659 95068660 deletion of <=200bp AG - intron_variant PBCA-DE 5 95068659 95068660 deletion of <=200bp AG - upstream_gene_variant PBCA-DE 5 95074660 95074661 deletion of <=200bp CA - downstream_gene_variant PBCA-DE 5 95074660 95074661 deletion of <=200bp CA - intron_variant PBCA-DE 5 95084005 95084005 single base substitution G A intron_variant PBCA-DE 5 95111111 95111112 deletion of <=200bp TA - intron_variant PBCA-DE 5 95111111 95111112 deletion of <=200bp TA - upstream_gene_variant PBCA-DE 5 95137808 95137808 single base substitution C G intron_variant PBCA-DE 5 95138018 95138018 single base substitution C A intron_variant PBCA-DE 5 95141615 95141621 deletion of <=200bp CTGCTCA - intron_variant PBCA-DE 5 95155987 95155987 single base substitution C T intron_variant PBCA-DE 5 95162131 95162131 single base substitution C G downstream_gene_variant PRAD-CA 5 95084547 95084547 single base substitution T G downstream_gene_variant PRAD-CA 5 95084547 95084547 single base substitution T G intron_variant PRAD-CA 5 95097899 95097899 single base substitution C T intron_variant PRAD-CA 5 95122268 95122268 single base substitution C A downstream_gene_variant PRAD-CA 5 95122268 95122268 single base substitution C A intron_variant PRAD-CA 5 95122268 95122268 single base substitution C A upstream_gene_variant PRAD-CA 5 95128107 95128107 single base substitution G A downstream_gene_variant PRAD-CA 5 95128107 95128107 single base substitution G A intron_variant PRAD-CA 5 95129856 95129856 single base substitution T G 3_prime_UTR_variant PRAD-CA 5 95129856 95129856 single base substitution T G downstream_gene_variant PRAD-CA 5 95129856 95129856 single base substitution T G intron_variant PRAD-CA 5 95146227 95146227 single base substitution C G intron_variant PRAD-CA 5 95163055 95163055 single base substitution G A downstream_gene_variant PRAD-UK 5 95044327 95044327 single base substitution C G upstream_gene_variant PRAD-UK 5 95072845 95072845 single base substitution A C downstream_gene_variant PRAD-UK 5 95072845 95072845 single base substitution A C intron_variant PRAD-UK 5 95082776 95082776 single base substitution C A intron_variant PRAD-UK 5 95087612 95087612 single base substitution C T downstream_gene_variant PRAD-UK 5 95087612 95087612 single base substitution C T intron_variant PRAD-UK 5 95111670 95111670 single base substitution T G intron_variant PRAD-UK 5 95111670 95111670 single base substitution T G upstream_gene_variant PRAD-UK 5 95123356 95123356 single base substitution A G downstream_gene_variant PRAD-UK 5 95123356 95123356 single base substitution A G intron_variant PRAD-UK 5 95123356 95123356 single base substitution A G upstream_gene_variant PRAD-UK 5 95135839 95135839 single base substitution A T downstream_gene_variant PRAD-UK 5 95135839 95135839 single base substitution A T intron_variant PRAD-UK 5 95143596 95143596 single base substitution T C intron_variant PRAD-UK 5 95147664 95147664 single base substitution C G intron_variant PRAD-UK 5 95156469 95156469 single base substitution T C intron_variant PRAD-US 5 95091242 95091242 single base substitution C T 3_prime_UTR_variant PRAD-US 5 95091242 95091242 single base substitution C T downstream_gene_variant PRAD-US 5 95091242 95091242 single base substitution C T exon_variant PRAD-US 5 95091242 95091242 single base substitution C T synonymous_variant C275C 825C>T PRAD-US 5 95128826 95128826 single base substitution C T 3_prime_UTR_variant PRAD-US 5 95128826 95128826 single base substitution C T downstream_gene_variant PRAD-US 5 95128826 95128826 single base substitution C T intron_variant PRAD-US 5 95128826 95128826 single base substitution C T missense_variant A226V 677C>T PRAD-US 5 95128826 95128826 single base substitution C T missense_variant A595V 1784C>T PRAD-US 5 95128826 95128826 single base substitution C T missense_variant A97V 290C>T READ-US 5 95158357 95158357 single base substitution C A intron_variant RECA-EU 5 95052487 95052487 single base substitution C A intron_variant RECA-EU 5 95052487 95052487 single base substitution C A upstream_gene_variant RECA-EU 5 95052725 95052725 single base substitution A C intron_variant RECA-EU 5 95052725 95052725 single base substitution A C upstream_gene_variant RECA-EU 5 95079148 95079148 single base substitution T A intron_variant RECA-EU 5 95093390 95093390 single base substitution A C downstream_gene_variant RECA-EU 5 95093390 95093390 single base substitution A C intron_variant RECA-EU 5 95100413 95100413 single base substitution A C downstream_gene_variant RECA-EU 5 95100413 95100413 single base substitution A C intron_variant RECA-EU 5 95100413 95100413 single base substitution A C upstream_gene_variant RECA-EU 5 95114169 95114169 single base substitution G T intron_variant RECA-EU 5 95114169 95114169 single base substitution G T upstream_gene_variant RECA-EU 5 95116189 95116189 single base substitution G C intron_variant RECA-EU 5 95116189 95116189 single base substitution G C upstream_gene_variant RECA-EU 5 95123339 95123339 single base substitution T C downstream_gene_variant RECA-EU 5 95123339 95123339 single base substitution T C intron_variant RECA-EU 5 95123339 95123339 single base substitution T C upstream_gene_variant RECA-EU 5 95139768 95139768 single base substitution A G intron_variant RECA-EU 5 95140684 95140684 single base substitution T G intron_variant RECA-EU 5 95143774 95143774 single base substitution A G intron_variant RECA-EU 5 95157399 95157399 single base substitution G A intron_variant RECA-EU 5 95163725 95163725 single base substitution G A downstream_gene_variant SKCA-BR 5 95048986 95048986 single base substitution G C upstream_gene_variant SKCA-BR 5 95049501 95049501 single base substitution C G intron_variant SKCA-BR 5 95049501 95049501 single base substitution C G upstream_gene_variant SKCA-BR 5 95049749 95049749 single base substitution C T intron_variant SKCA-BR 5 95049749 95049749 single base substitution C T upstream_gene_variant SKCA-BR 5 95049750 95049750 single base substitution C T intron_variant SKCA-BR 5 95049750 95049750 single base substitution C T upstream_gene_variant SKCA-BR 5 95051425 95051425 single base substitution G A intron_variant SKCA-BR 5 95051425 95051425 single base substitution G A upstream_gene_variant SKCA-BR 5 95051811 95051811 single base substitution G A intron_variant SKCA-BR 5 95051811 95051811 single base substitution G A upstream_gene_variant SKCA-BR 5 95054433 95054433 single base substitution T G intron_variant SKCA-BR 5 95056136 95056136 single base substitution G A intron_variant SKCA-BR 5 95057304 95057304 single base substitution G A intron_variant SKCA-BR 5 95057617 95057617 single base substitution G A intron_variant SKCA-BR 5 95059612 95059612 single base substitution C T intron_variant SKCA-BR 5 95059613 95059613 single base substitution C T intron_variant SKCA-BR 5 95063774 95063774 single base substitution C G intron_variant SKCA-BR 5 95063774 95063774 single base substitution C G upstream_gene_variant SKCA-BR 5 95072032 95072032 single base substitution C T downstream_gene_variant SKCA-BR 5 95072032 95072032 single base substitution C T intron_variant SKCA-BR 5 95072032 95072032 single base substitution C T upstream_gene_variant SKCA-BR 5 95081959 95081959 insertion of <=200bp - AT intron_variant SKCA-BR 5 95083738 95083738 single base substitution T C intron_variant SKCA-BR 5 95107411 95107411 single base substitution C T intron_variant SKCA-BR 5 95108178 95108178 single base substitution G A intron_variant SKCA-BR 5 95108205 95108205 single base substitution C T intron_variant SKCA-BR 5 95111110 95111110 insertion of <=200bp - GTA intron_variant SKCA-BR 5 95111110 95111110 insertion of <=200bp - GTA upstream_gene_variant SKCA-BR 5 95112413 95112413 single base substitution A G intron_variant SKCA-BR 5 95112413 95112413 single base substitution A G upstream_gene_variant SKCA-BR 5 95117561 95117561 insertion of <=200bp - GACTA intron_variant SKCA-BR 5 95117561 95117561 insertion of <=200bp - GACTA upstream_gene_variant SKCA-BR 5 95118930 95118930 single base substitution A T intron_variant SKCA-BR 5 95118930 95118930 single base substitution A T upstream_gene_variant SKCA-BR 5 95119265 95119272 deletion of <=200bp CAAAAAAA - intron_variant SKCA-BR 5 95119265 95119272 deletion of <=200bp CAAAAAAA - upstream_gene_variant SKCA-BR 5 95120258 95120258 single base substitution G A downstream_gene_variant SKCA-BR 5 95120258 95120258 single base substitution G A intron_variant SKCA-BR 5 95120258 95120258 single base substitution G A upstream_gene_variant SKCA-BR 5 95122092 95122092 single base substitution C T downstream_gene_variant SKCA-BR 5 95122092 95122092 single base substitution C T intron_variant SKCA-BR 5 95122092 95122092 single base substitution C T upstream_gene_variant SKCA-BR 5 95124139 95124139 single base substitution C T downstream_gene_variant SKCA-BR 5 95124139 95124139 single base substitution C T intron_variant SKCA-BR 5 95124139 95124139 single base substitution C T upstream_gene_variant SKCA-BR 5 95124471 95124471 single base substitution C T downstream_gene_variant SKCA-BR 5 95124471 95124471 single base substitution C T exon_variant SKCA-BR 5 95124471 95124471 single base substitution C T synonymous_variant H124H 372C>T SKCA-BR 5 95124471 95124471 single base substitution C T synonymous_variant H174H 522C>T SKCA-BR 5 95124471 95124471 single base substitution C T synonymous_variant H45H 135C>T SKCA-BR 5 95124471 95124471 single base substitution C T synonymous_variant H543H 1629C>T SKCA-BR 5 95124471 95124471 single base substitution C T upstream_gene_variant SKCA-BR 5 95132400 95132400 single base substitution C T downstream_gene_variant SKCA-BR 5 95132400 95132400 single base substitution C T intron_variant SKCA-BR 5 95141391 95141391 single base substitution C T intron_variant SKCA-BR 5 95141533 95141533 single base substitution C T intron_variant SKCA-BR 5 95142362 95142362 single base substitution C T intron_variant SKCA-BR 5 95149242 95149242 single base substitution C T intron_variant SKCA-BR 5 95159660 95159660 single base substitution A G missense_variant I55V 163A>G SKCA-BR 5 95162099 95162099 single base substitution C T downstream_gene_variant SKCA-BR 5 95162100 95162100 single base substitution C T downstream_gene_variant SKCA-BR 5 95163387 95163387 single base substitution C T downstream_gene_variant SKCM-US 5 95091130 95091130 single base substitution C T 3_prime_UTR_variant SKCM-US 5 95091130 95091130 single base substitution C T downstream_gene_variant SKCM-US 5 95091130 95091130 single base substitution C T exon_variant SKCM-US 5 95091130 95091130 single base substitution C T missense_variant S238L 713C>T SKCM-US 5 95116051 95116051 single base substitution C T exon_variant SKCM-US 5 95116051 95116051 single base substitution C T synonymous_variant L41L 121C>T SKCM-US 5 95116051 95116051 single base substitution C T synonymous_variant L460L 1378C>T SKCM-US 5 95116051 95116051 single base substitution C T synonymous_variant L91L 271C>T SKCM-US 5 95116051 95116051 single base substitution C T upstream_gene_variant SKCM-US 5 95119555 95119555 single base substitution C T exon_variant SKCM-US 5 95119555 95119555 single base substitution C T missense_variant S135F 404C>T SKCM-US 5 95119555 95119555 single base substitution C T missense_variant S504F 1511C>T SKCM-US 5 95119555 95119555 single base substitution C T missense_variant S6F 17C>T SKCM-US 5 95119555 95119555 single base substitution C T missense_variant S85F 254C>T SKCM-US 5 95119555 95119555 single base substitution C T upstream_gene_variant SKCM-US 5 95124505 95124505 single base substitution T G downstream_gene_variant SKCM-US 5 95124505 95124505 single base substitution T G exon_variant SKCM-US 5 95124505 95124505 single base substitution T G missense_variant F136V 406T>G SKCM-US 5 95124505 95124505 single base substitution T G missense_variant F186V 556T>G SKCM-US 5 95124505 95124505 single base substitution T G missense_variant F555V 1663T>G SKCM-US 5 95124505 95124505 single base substitution T G missense_variant F57V 169T>G SKCM-US 5 95124505 95124505 single base substitution T G upstream_gene_variant STAD-US 5 95072640 95072640 single base substitution C T downstream_gene_variant STAD-US 5 95072640 95072640 single base substitution C T exon_variant STAD-US 5 95072640 95072640 single base substitution C T intron_variant STAD-US 5 95072640 95072640 single base substitution C T synonymous_variant G92G 276C>T STAD-US 5 95072640 95072640 single base substitution C T synonymous_variant G98G 294C>T STAD-US 5 95072640 95072640 single base substitution C T upstream_gene_variant STAD-US 5 95099279 95099279 single base substitution A G downstream_gene_variant STAD-US 5 95099279 95099279 single base substitution A G synonymous_variant S372S 1116A>G STAD-US 5 95099279 95099279 single base substitution A G upstream_gene_variant STAD-US 5 95116060 95116060 single base substitution G A exon_variant STAD-US 5 95116060 95116060 single base substitution G A missense_variant V44I 130G>A STAD-US 5 95116060 95116060 single base substitution G A missense_variant V463I 1387G>A STAD-US 5 95116060 95116060 single base substitution G A missense_variant V94I 280G>A STAD-US 5 95116060 95116060 single base substitution G A upstream_gene_variant STAD-US 5 95116113 95116113 single base substitution A G exon_variant STAD-US 5 95116113 95116113 single base substitution A G synonymous_variant T111T 333A>G STAD-US 5 95116113 95116113 single base substitution A G synonymous_variant T480T 1440A>G STAD-US 5 95116113 95116113 single base substitution A G synonymous_variant T61T 183A>G STAD-US 5 95116113 95116113 single base substitution A G upstream_gene_variant STAD-US 5 95119538 95119538 single base substitution C T 5_prime_UTR_variant STAD-US 5 95119538 95119538 single base substitution C T exon_variant STAD-US 5 95119538 95119538 single base substitution C T synonymous_variant A129A 387C>T STAD-US 5 95119538 95119538 single base substitution C T synonymous_variant A498A 1494C>T STAD-US 5 95119538 95119538 single base substitution C T synonymous_variant A79A 237C>T STAD-US 5 95119538 95119538 single base substitution C T upstream_gene_variant STAD-US 5 95119546 95119546 single base substitution A G exon_variant STAD-US 5 95119546 95119546 single base substitution A G missense_variant Y132C 395A>G STAD-US 5 95119546 95119546 single base substitution A G missense_variant Y3C 8A>G STAD-US 5 95119546 95119546 single base substitution A G missense_variant Y501C 1502A>G STAD-US 5 95119546 95119546 single base substitution A G missense_variant Y82C 245A>G STAD-US 5 95119546 95119546 single base substitution A G upstream_gene_variant STAD-US 5 95119641 95119641 single base substitution A G downstream_gene_variant STAD-US 5 95119641 95119641 single base substitution A G exon_variant STAD-US 5 95119641 95119641 single base substitution A G missense_variant I114V 340A>G STAD-US 5 95119641 95119641 single base substitution A G missense_variant I164V 490A>G STAD-US 5 95119641 95119641 single base substitution A G missense_variant I35V 103A>G STAD-US 5 95119641 95119641 single base substitution A G missense_variant I533V 1597A>G STAD-US 5 95119641 95119641 single base substitution A G upstream_gene_variant STAD-US 5 95119656 95119656 deletion of <=200bp A - downstream_gene_variant STAD-US 5 95119656 95119656 deletion of <=200bp A - exon_variant STAD-US 5 95119656 95119656 deletion of <=200bp A - frameshift_variant K119 STAD-US 5 95119656 95119656 deletion of <=200bp A - frameshift_variant K169 STAD-US 5 95119656 95119656 deletion of <=200bp A - frameshift_variant K40 STAD-US 5 95119656 95119656 deletion of <=200bp A - frameshift_variant K538 STAD-US 5 95119656 95119656 deletion of <=200bp A - upstream_gene_variant STAD-US 5 95152333 95152333 deletion of <=200bp A - intron_variant STAD-US 5 95152333 95152333 insertion of <=200bp - A intron_variant STAD-US 5 95158219 95158219 single base substitution C T intron_variant THCA-SA 5 95131401 95131401 single base substitution A G 3_prime_UTR_variant THCA-SA 5 95131401 95131401 single base substitution A G downstream_gene_variant THCA-SA 5 95131401 95131401 single base substitution A G intron_variant UCEC-US 5 95091126 95091126 single base substitution G T 3_prime_UTR_variant UCEC-US 5 95091126 95091126 single base substitution G T downstream_gene_variant UCEC-US 5 95091126 95091126 single base substitution G T exon_variant UCEC-US 5 95091126 95091126 single base substitution G T missense_variant A237S 709G>T UCEC-US 5 95091302 95091302 single base substitution T G 3_prime_UTR_variant UCEC-US 5 95091302 95091302 single base substitution T G downstream_gene_variant UCEC-US 5 95091302 95091302 single base substitution T G exon_variant UCEC-US 5 95091302 95091302 single base substitution T G missense_variant D295E 885T>G UCEC-US 5 95091321 95091321 single base substitution A G 3_prime_UTR_variant UCEC-US 5 95091321 95091321 single base substitution A G downstream_gene_variant UCEC-US 5 95091321 95091321 single base substitution A G exon_variant UCEC-US 5 95091321 95091321 single base substitution A G missense_variant T302A 904A>G UCEC-US 5 95091417 95091417 single base substitution G A 3_prime_UTR_variant UCEC-US 5 95091417 95091417 single base substitution G A downstream_gene_variant UCEC-US 5 95091417 95091417 single base substitution G A exon_variant UCEC-US 5 95091417 95091417 single base substitution G A missense_variant A334T 1000G>A UCEC-US 5 95103798 95103798 single base substitution T C downstream_gene_variant UCEC-US 5 95103798 95103798 single base substitution T C missense_variant W35R 103T>C UCEC-US 5 95103798 95103798 single base substitution T C missense_variant W404R 1210T>C UCEC-US 5 95103798 95103798 single base substitution T C upstream_gene_variant UCEC-US 5 95115960 95115960 single base substitution G A exon_variant UCEC-US 5 95115960 95115960 single base substitution G A synonymous_variant T10T 30G>A UCEC-US 5 95115960 95115960 single base substitution G A synonymous_variant T429T 1287G>A UCEC-US 5 95115960 95115960 single base substitution G A synonymous_variant T60T 180G>A UCEC-US 5 95115960 95115960 single base substitution G A upstream_gene_variant UCEC-US 5 95116114 95116114 single base substitution G A exon_variant UCEC-US 5 95116114 95116114 single base substitution G A missense_variant D112N 334G>A UCEC-US 5 95116114 95116114 single base substitution G A missense_variant D481N 1441G>A UCEC-US 5 95116114 95116114 single base substitution G A missense_variant D62N 184G>A UCEC-US 5 95116114 95116114 single base substitution G A upstream_gene_variant UCEC-US 5 95128827 95128827 single base substitution G A 3_prime_UTR_variant UCEC-US 5 95128827 95128827 single base substitution G A downstream_gene_variant UCEC-US 5 95128827 95128827 single base substitution G A intron_variant UCEC-US 5 95128827 95128827 single base substitution G A synonymous_variant A226A 678G>A UCEC-US 5 95128827 95128827 single base substitution G A synonymous_variant A595A 1785G>A UCEC-US 5 95128827 95128827 single base substitution G A synonymous_variant A97A 291G>A UCEC-US 5 95152248 95152248 single base substitution G A intron_variant UCEC-US 5 95152294 95152294 single base substitution C T intron_variant UCEC-US 5 95152323 95152323 single base substitution C T intron_variant UCEC-US 5 95158271 95158271 single base substitution G T intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand YUKAT COSM5404040 c.1240C>T p.L414F Substitution - Missense 5:95768124-95768124 + TCGA-22-4601-01 COSM738883 c.611G>A p.S204N Substitution - Missense 5:95752279-95752279 + RK053_C01 COSM3766863 c.734A>G p.N245S Substitution - Missense 5:95755447-95755447 + TCGA-AM-5820-01 COSM3761387 c.777C>T p.Y259Y Substitution - coding silent 5:95755490-95755490 + TCGA-EE-A29L-06 COSM3618840 c.1511C>T p.S504F Substitution - Missense 5:95783851-95783851 + 587376 COSM1223709 c.1703A>C p.E568A Substitution - Missense 5:95788841-95788841 + 6P2-2 COSM3734463 c.1244A>T p.N415I Substitution - Missense 5:95768128-95768128 + TCGA-DK-A3IS-01 COSM1311404 c.117G>C p.E39D Substitution - Missense 5:95731973-95731973 + TCGA-AP-A056-01 COSM1071385 c.885T>G p.D295E Substitution - Missense 5:95755598-95755598 + TCGA-BR-4257-01 COSM3856979 c.1440A>G p.T480T Substitution - coding silent 5:95780409-95780409 + TCGA-BS-A0U5-01 COSM1071393 c.1287G>A p.T429T Substitution - coding silent 5:95780256-95780256 + BN24T COSM1620673 c.1282+5G>A p.? Unknown 5:95768171-95768171 + TCGA-C8-A274-01 COSM1487055 c.449C>G p.S150* Substitution - Nonsense 5:95748366-95748366 + CRC-19T COSM5482013 c.1835A>G p.*612* Substitution - coding silent 5:95793173-95793173 + TCGA-IR-A3LK-01 COSM3141787 c.1784C>T p.A595V Substitution - Missense 5:95793122-95793122 + TCGA-F1-6177-01 COSM3141783 c.1494C>T p.A498A Substitution - coding silent 5:95783834-95783834 + TCGA-GM-A2D9-01 COSM3828628 c.1726G>A p.E576K Substitution - Missense 5:95793064-95793064 + TCGA-AP-A0LM-01 COSM1071397 c.1785G>A p.A595A Substitution - coding silent 5:95793123-95793123 + YUKAE COSM5404041 c.1609C>T p.L537F Substitution - Missense 5:95783949-95783949 + 545 COSM5612745 c.1820G>A p.R607H Substitution - Missense 5:95793158-95793158 + LC_C20 COSM1186795 c.1067A>T p.E356V Substitution - Missense 5:95763526-95763526 + TCGA-12-0707 COSM2154563 c.91A>G p.R31G Substitution - Missense 5:95731947-95731947 + NPC26F COSM4996577 c.31G>T p.E11* Substitution - Nonsense 5:95731887-95731887 + 587376 COSM1223708 c.1233G>T p.K411N Substitution - Missense 5:95768117-95768117 + S02273 COSM5682126 c.1630C>T p.H544Y Substitution - Missense 5:95788768-95788768 + TCGA-BR-A4QL-01 COSM3856981 c.1597A>G p.I533V Substitution - Missense 5:95783937-95783937 + TCGA-CC-5258-01 COSM4933351 c.892A>G p.I298V Substitution - Missense 5:95755605-95755605 + ESCC_BICR_053T COSM5442183 c.225C>T p.V75V Substitution - coding silent 5:95732081-95732081 + TCGA-B5-A11N-01 COSM1071387 c.904A>G p.T302A Substitution - Missense 5:95755617-95755617 + RK199_C01 COSM3766864 c.1056T>C p.F352F Substitution - coding silent 5:95763515-95763515 + HX30T COSM3662014 c.219T>G p.C73W Substitution - Missense 5:95732075-95732075 + C008 COSM5523687 c.1804C>A p.H602N Substitution - Missense 5:95793142-95793142 + 8069168 COSM1071389 c.1000G>A p.A334T Substitution - Missense 5:95755713-95755713 + MO_1184 COSM5573146 c.1049-1G>T p.? Unknown 5:95763507-95763507 + PD11816a COSM5783392 c.453C>A p.D151E Substitution - Missense 5:95748370-95748370 + TCGA-DK-A3IS-01 COSM1311403 c.31G>A p.E11K Substitution - Missense 5:95731887-95731887 + TCGA-C5-A1MI-01 COSM4837458 c.198C>G p.V66V Substitution - coding silent 5:95732054-95732054 + SCC-15 COSM3141774 c.749G>T p.C250F Substitution - Missense 5:95755462-95755462 + 8015259 COSM1620673 c.1282+5G>A p.? Unknown 5:95768171-95768171 + TCGA-BR-8487-01 COSM3856978 c.1387G>A p.V463I Substitution - Missense 5:95780356-95780356 + 91T COSM109720 c.816C>T p.I272I Substitution - coding silent 5:95755529-95755529 + pfg129T COSM4758972 c.185C>T p.A62V Substitution - Missense 5:95732041-95732041 + TCGA-BR-4184-01 COSM3856976 c.276C>T p.G92G Substitution - coding silent 5:95736936-95736936 + CSCC-11-T COSM167902 c.1760C>T p.S587L Substitution - Missense 5:95793098-95793098 + YUDIALE COSM1695970 c.1339G>A p.A447T Substitution - Missense 5:95780308-95780308 + BD236T COSM5518598 c.303C>T p.N101N Substitution - coding silent 5:95736963-95736963 + 52 COSM5734708 c.189_198del10 p.F63fs*24 Deletion - Frameshift 5:95732045-95732054 + T3724 COSM4721577 c.32_33insG p.D13fs*68 Insertion - Frameshift 5:95731888-95731889 + NCI-H2009 COSM21673 c.214G>C p.D72H Substitution - Missense 5:95732070-95732070 + TCGA-A6-6137-01 COSM3697351 c.1366G>A p.A456T Substitution - Missense 5:95780335-95780335 + HCT8 COSM4635296 c.1730G>A p.R577H Substitution - Missense 5:95793068-95793068 + TBR08 COSM3141776 c.817G>A p.V273I Substitution - Missense 5:95755530-95755530 + I2L-P7-Tumor-Organoid COSM3141783 c.1494C>T p.A498A Substitution - coding silent 5:95783834-95783834 + TCGA-B5-A0K2-01 COSM1071381 c.435C>T p.C145C Substitution - coding silent 5:95748352-95748352 + TCGA-EJ-5508-01 COSM3141787 c.1784C>T p.A595V Substitution - Missense 5:95793122-95793122 + TCGA-AA-3678-01 COSM292921 c.1707T>G p.F569L Substitution - Missense 5:95788845-95788845 + TCGA-BW-A5NO-01 COSM593430 c.15C>T p.I5I Substitution - coding silent 5:95731871-95731871 + Pat_60_A COSM5868979 c.1693delC p.Q565fs*27 Deletion - Frameshift 5:95788831-95788831 + S02242 COSM5677431 c.909G>T p.Q303H Substitution - Missense 5:95755622-95755622 + TCGA-29-1785-01 COSM1329388 c.644C>G p.S215C Substitution - Missense 5:95752312-95752312 + TCGA-CJ-4882-01 COSM483177 c.765C>T p.D255D Substitution - coding silent 5:95755478-95755478 + TCGA-EE-A2MR-06 COSM3618838 c.713C>T p.S238L Substitution - Missense 5:95755426-95755426 + T207 COSM4721578 c.1757C>A p.P586Q Substitution - Missense 5:95793095-95793095 + TCGA-BR-4257-01 COSM3856977 c.1116A>G p.S372S Substitution - coding silent 5:95763575-95763575 + TCGA-D5-6928-01 COSM1439268 c.1612delA p.K539fs*53 Deletion - Frameshift 5:95783952-95783952 + TCGA-BR-8369-01 COSM3856976 c.276C>T p.G92G Substitution - coding silent 5:95736936-95736936 + TCGA-D9-A6EC-06 COSM4400928 c.1663T>G p.F555V Substitution - Missense 5:95788801-95788801 + H2009 COSM21673 c.214G>C p.D72H Substitution - Missense 5:95732070-95732070 + TCGA-A3-3346-01 COSM1496158 c.571-2A>T p.? Unknown 5:95752237-95752237 + CSCC-27-T COSM4458394 c.1083C>T p.I361I Substitution - coding silent 5:95763542-95763542 + TCGA-AP-A056-01 COSM1071383 c.709G>T p.A237S Substitution - Missense 5:95755422-95755422 + HCT-15 COSM1671762 c.1030C>A p.L344I Substitution - Missense 5:95755743-95755743 + YUOTHO COSM5404042 c.1812G>A p.R604R Substitution - coding silent 5:95793150-95793150 + TCGA-AP-A059-01 COSM1071395 c.1441G>A p.D481N Substitution - Missense 5:95780410-95780410 + TCGA-C5-A0TN-01 COSM4856168 c.146C>T p.T49M Substitution - Missense 5:95732002-95732002 + DN14065 COSM5962817 c.1251G>A p.P417P Substitution - coding silent 5:95768135-95768135 + CHC314T COSM4950326 c.699A>T p.L233F Substitution - Missense 5:95755412-95755412 + TCGA-EE-A3AG-06 COSM3618839 c.1378C>T p.L460L Substitution - coding silent 5:95780347-95780347 + 8665_PT COSM5756713 c.682G>A p.E228K Substitution - Missense 5:95752350-95752350 + TCGA-KK-A59V-01 COSM4878318 c.825C>T p.C275C Substitution - coding silent 5:95755538-95755538 + TCGA-AM-5820-01 COSM3761388 c.784A>G p.N262D Substitution - Missense 5:95755497-95755497 + TCGA-BR-8059-01 COSM3856980 c.1502A>G p.Y501C Substitution - Missense 5:95783842-95783842 + PTC-10C COSM4160063 c.69G>A p.G23G Substitution - coding silent 5:95731925-95731925 + TCGA-DM-A1D9-01 COSM1439266 c.87G>C p.L29L Substitution - coding silent 5:95731943-95731943 + LUAD-B01145 COSM333464 c.1569C>A p.S523R Substitution - Missense 5:95783909-95783909 + TCGA-A5-A0GA-01 COSM1071379 c.237T>C p.F79F Substitution - coding silent 5:95736897-95736897 + 2492730 COSM5728932 c.26G>A p.G9E Substitution - Missense 5:95731882-95731882 + TCGA-FG-5962-01 COSM3975673 c.1504C>T p.Q502* Substitution - Nonsense 5:95783844-95783844 + TCGA-AX-A06L-01 COSM1071389 c.1000G>A p.A334T Substitution - Missense 5:95755713-95755713 + TCGA-C5-A0TN-01 COSM4856124 c.191G>T p.G64V Substitution - Missense 5:95732047-95732047 + TCGA-36-2547-01 COSM1329389 c.104T>C p.V35A Substitution - Missense 5:95731960-95731960 + HCT15 COSM1671762 c.1030C>A p.L344I Substitution - Missense 5:95755743-95755743 + ESO-081 COSM1243570 c.489A>G p.Q163Q Substitution - coding silent 5:95748406-95748406 + BN24 COSM1620673 c.1282+5G>A p.? Unknown 5:95768171-95768171 + TCGA-D1-A103-01 COSM1071391 c.1210T>C p.W404R Substitution - Missense 5:95768094-95768094 + PT33 COSM5908562 c.1721-3C>T p.? Unknown 5:95793056-95793056 + CSCC-27-T COSM4531131 c.1761G>A p.S587S Substitution - coding silent 5:95793099-95793099 + TCGA-AO-A0J9-01 COSM450208 c.1726G>C p.E576Q Substitution - Missense 5:95793064-95793064 + TCGA-AZ-4615-01 COSM3697352 c.1567A>G p.S523G Substitution - Missense 5:95783907-95783907 + CHC314T COSM4950326 c.699A>T p.L233F Substitution - Missense 5:95755412-95755412 + TCGA-AM-5820-01 COSM3761386 c.510G>A p.A170A Substitution - coding silent 5:95748427-95748427 + S02234 COSM5676249 c.1605C>G p.D535E Substitution - Missense 5:95783945-95783945 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.445030 5q15 607353 2442535|CGAP|BC041337|G/T|non-coding||2550|Validated; 2442536|CGAP|BC041337|A/G|non-coding||2323|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.S372S c.1116A>G 5 95099279 STAD A G Synonymous p.T480T c.1440A>G 5 95116113 STAD C - Frameshift p.L472Cfs*4 c.1413delC 5 95116086 BLCA C G IntronicSNV . c.1720+438C>G 5 95125000 HC C G Nonsense p.S150* c.449C>G 5 95084070 BRCA C T IntronicSNV . c.1282+967C>T 5 95104837 CM C T Missense p.S504F c.1511C>T 5 95119555 CM C T Nonsense p.Q502* c.1504C>T 5 95119548 LGG C T Nonsense p.R328* c.982C>T 5 95091399 STAD C T Synonymous p.A498A c.1494C>T 5 95119538 STAD C T Synonymous p.F281F c.843C>T 5 95091260 LUAD C T Synonymous p.I5I c.15C>T 5 95067575 LUAD C T Synonymous p.L460L c.1378C>T 5 95116051 CM G A IntronicSNV . c.1282+863G>A 5 95104733 CM G A Missense p.A334T c.1000G>A 5 95091417 UCEC G A Missense p.D421N c.1261G>A 5 95103849 HNSC G A Missense p.E11K c.31G>A 5 95067591 BLCA G A Missense p.S204N c.611G>A 5 95087983 LUSC G A Missense p.V273I c.817G>A 5 95091234 ALL G A Synonymous p.K208K c.624G>A 5 95087996 HNSC G A Synonymous p.T429T c.1287G>A 5 95115960 UCEC G C Missense p.E39D c.117G>C 5 95067677 BLCA G C Missense p.E576Q c.1726G>C 5 95128768 BRCA G T Missense p.V133F c.397G>T 5 95072761 LUAD G T SpliceDonorSNV . c.415+1G>T 5 95072780 BRCA T C IntronicSNV . c.228+58T>C 5 95067846 ESCA T G Missense p.F569L c.1707T>G 5 95124549 COREAD T - IntronicDeletion . c.228+58delT 5 95067839 STAD