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 4 166150063 166150063 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr4:166150063C>T c.257C>T c.(256-258)aCa>aTa p.T86I BLCA 4 166218861 166218861 + Missense_Mutation SNP G G A TCGA-2F-A9KT-01A-11D-A38G-08 TCGA-2F-A9KT-10A-01D-A38J-08 g.chr4:166218861G>A c.755G>A c.(754-756)cGg>cAg p.R252Q BLCA 4 166220763 166220763 + Missense_Mutation SNP G G T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr4:166220763G>T c.876G>T c.(874-876)atG>atT p.M292I BLCA 4 166232654 166232654 + Frame_Shift_Del DEL G G - TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 g.chr4:166232654delG c.1276delG c.(1276-1278)gagfs p.E426fs BLCA 4 166235285 166235285 + Missense_Mutation SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 g.chr4:166235285G>T c.1576G>T c.(1576-1578)Gtt>Ttt p.V526F BLCA 4 166235316 166235316 + Missense_Mutation SNP C C A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 g.chr4:166235316C>A c.1607C>A c.(1606-1608)gCa>gAa p.A536E BLCA 4 166243198 166243198 + Missense_Mutation SNP G G C TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr4:166243198G>C c.1768G>C c.(1768-1770)Gat>Cat p.D590H BRCA 4 166160017 166160017 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr4:166160017C>T c.347C>T c.(346-348)aCt>aTt p.T116I CESC 4 166231823 166231823 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 g.chr4:166231823G>A c.1158G>A c.(1156-1158)atG>atA p.M386I CESC 4 166231890 166231890 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr4:166231890G>C c.1225G>C c.(1225-1227)Gat>Cat p.D409H CESC 4 166235222 166235222 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 g.chr4:166235222G>C c.1513G>C c.(1513-1515)Gat>Cat p.D505H COAD 4 166131313 166131313 + Intron SNP C C T TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr4:166131313C>T COAD 4 166231807 166231807 + Missense_Mutation SNP C C G TCGA-AA-A01F-01A-01W-A005-10 TCGA-AA-A01F-10A-01W-A005-10 g.chr4:166231807C>G c.1142C>G c.(1141-1143)aCc>aGc p.T381S COAD 4 166231811 166231811 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr4:166231811C>T c.1146C>T c.(1144-1146)agC>agT p.S382S COAD 4 166231874 166231874 + Silent SNP C C T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr4:166231874C>T c.1209C>T c.(1207-1209)taC>taT p.Y403Y COAD 4 166232625 166232625 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:166232625C>T c.1247C>T c.(1246-1248)tCt>tTt p.S416F COADREAD 4 166131313 166131313 + Intron SNP C C T TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr4:166131313C>T COADREAD 4 166141201 166141201 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:166141201G>A c.142G>A c.(142-144)Gaa>Aaa p.E48K COADREAD 4 166231807 166231807 + Missense_Mutation SNP C C G TCGA-AA-A01F-01A-01W-A005-10 TCGA-AA-A01F-10A-01W-A005-10 g.chr4:166231807C>G c.1142C>G c.(1141-1143)aCc>aGc p.T381S COADREAD 4 166231811 166231811 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr4:166231811C>T c.1146C>T c.(1144-1146)agC>agT p.S382S COADREAD 4 166231874 166231874 + Silent SNP C C T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr4:166231874C>T c.1209C>T c.(1207-1209)taC>taT p.Y403Y COADREAD 4 166232625 166232625 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:166232625C>T c.1247C>T c.(1246-1248)tCt>tTt p.S416F DLBC 4 166149999 166149999 + Missense_Mutation SNP A A G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr4:166149999A>G c.193A>G c.(193-195)Atg>Gtg p.M65V DLBC 4 166239083 166239083 + Missense_Mutation SNP T T G TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr4:166239083T>G c.1715T>G c.(1714-1716)gTt>gGt p.V572G ESCA 4 166149971 166149971 + Silent SNP G G T TCGA-LN-A9FP-01A-31D-A387-09 TCGA-LN-A9FP-10A-01D-A38A-09 g.chr4:166149971G>T c.165G>T c.(163-165)ctG>ctT p.L55L ESCA 4 166220690 166220690 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 g.chr4:166220690G>A c.803G>A c.(802-804)aGc>aAc p.S268N GBMLGG 4 166226860 166226860 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:166226860C>T c.1022C>T c.(1021-1023)tCc>tTc p.S341F GBMLGG 4 166239115 166239115 + Missense_Mutation SNP T T G TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 g.chr4:166239115T>G c.1747T>G c.(1747-1749)Tat>Gat p.Y583D HNSC 4 166159977 166159977 + Missense_Mutation SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 g.chr4:166159977G>A c.307G>A c.(307-309)Gat>Aat p.D103N HNSC 4 166184408 166184408 + Silent SNP A A G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chr4:166184408A>G c.441A>G c.(439-441)gaA>gaG p.E147E HNSC 4 166231784 166231784 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 g.chr4:166231784C>T c.1119C>T c.(1117-1119)taC>taT p.Y373Y HNSC 4 166232680 166232680 + Silent SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 g.chr4:166232680T>C c.1302T>C c.(1300-1302)aaT>aaC p.N434N HNSC 4 166234437 166234437 + Missense_Mutation SNP C C G TCGA-T2-A6X2-01A-12D-A34J-08 TCGA-T2-A6X2-10B-01D-A34M-08 g.chr4:166234437C>G c.1387C>G c.(1387-1389)Ctt>Gtt p.L463V HNSC 4 166238995 166238995 + Missense_Mutation SNP G G T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 g.chr4:166238995G>T c.1627G>T c.(1627-1629)Ggt>Tgt p.G543C KIPAN 4 166239048 166239048 + Frame_Shift_Del DEL A A - TCGA-CZ-5988-01A-11D-1669-08 TCGA-CZ-5988-11A-01D-1669-08 g.chr4:166239048delA c.1680delA c.(1678-1680)gtafs p.V560fs KIRC 4 166239048 166239048 + Frame_Shift_Del DEL A A - TCGA-CZ-5988-01A-11D-1669-08 TCGA-CZ-5988-11A-01D-1669-08 g.chr4:166239048delA c.1680delA c.(1678-1680)gtafs p.V560fs LAML 4 166235192 166235192 + Missense_Mutation SNP A A T TCGA-AB-2881-03A-01W-0732-08 TCGA-AB-2881-11A-01W-0732-08 g.chr4:166235192A>T c.1483A>T c.(1483-1485)Aac>Tac p.N495Y LGG 4 166226860 166226860 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:166226860C>T c.1022C>T c.(1021-1023)tCc>tTc p.S341F LGG 4 166239115 166239115 + Missense_Mutation SNP T T G TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 g.chr4:166239115T>G c.1747T>G c.(1747-1749)Tat>Gat p.Y583D LIHC 4 166184404 166184404 + Missense_Mutation SNP G G T TCGA-DD-AADQ-01A-11D-A40R-10 TCGA-DD-AADQ-10A-01D-A40U-10 g.chr4:166184404G>T c.437G>T c.(436-438)tGt>tTt p.C146F LIHC 4 166226800 166226800 + Missense_Mutation SNP G G T TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr4:166226800G>T c.962G>T c.(961-963)cGg>cTg p.R321L LIHC 4 166238988 166238988 + Silent SNP A A G TCGA-ED-A66Y-01A-11D-A30V-10 TCGA-ED-A66Y-10A-01D-A30V-10 g.chr4:166238988A>G c.1620A>G c.(1618-1620)gcA>gcG p.A540A LUAD 4 166141117 166141117 + Missense_Mutation SNP G G T TCGA-44-7667-01A-31D-2063-08 TCGA-44-7667-10A-01D-2063-08 g.chr4:166141117G>T c.58G>T c.(58-60)Gat>Tat p.D20Y LUAD 4 166160028 166160028 + Nonsense_Mutation SNP C C T TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr4:166160028C>T c.358C>T c.(358-360)Cag>Tag p.Q120* LUAD 4 166226778 166226778 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr4:166226778G>T c.940G>T c.(940-942)Ggc>Tgc p.G314C LUAD 4 166231704 166231704 + Splice_Site SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 g.chr4:166231704G>T c.e10-1 LUAD 4 166231753 166231753 + Missense_Mutation SNP G G T TCGA-50-5051-01A-21D-1855-08 TCGA-50-5051-10A-01D-1855-08 g.chr4:166231753G>T c.1088G>T c.(1087-1089)gGc>gTc p.G363V LUAD 4 166232659 166232659 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr4:166232659G>T c.1281G>T c.(1279-1281)tgG>tgT p.W427C LUAD 4 166235212 166235212 + Silent SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr4:166235212A>T c.1503A>T c.(1501-1503)gtA>gtT p.V501V LUSC 4 166215563 166215563 + Missense_Mutation SNP C C G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 g.chr4:166215563C>G c.597C>G c.(595-597)atC>atG p.I199M PRAD 4 166218818 166218818 + Missense_Mutation SNP A A C TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 g.chr4:166218818A>C c.712A>C c.(712-714)Atg>Ctg p.M238L PRAD 4 166218865 166218865 + Silent SNP A A G TCGA-XK-AAJA-01A-11D-A41K-08 TCGA-XK-AAJA-10A-01D-A41N-08 g.chr4:166218865A>G c.759A>G c.(757-759)gaA>gaG p.E253E PRAD 4 166234520 166234520 + Splice_Site SNP T T C TCGA-EJ-7115-01A-11D-2114-08 TCGA-EJ-7115-10A-01D-2114-08 g.chr4:166234520T>C c.e12+2 PRAD 4 166238998 166238998 + Missense_Mutation SNP C C G TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 g.chr4:166238998C>G c.1630C>G c.(1630-1632)Ctg>Gtg p.L544V READ 4 166141201 166141201 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:166141201G>A c.142G>A c.(142-144)Gaa>Aaa p.E48K SKCM 4 166218843 166218843 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr4:166218843G>A c.737G>A c.(736-738)cGg>cAg p.R246Q SKCM 4 166226792 166226792 + Silent SNP G G A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr4:166226792G>A c.954G>A c.(952-954)aaG>aaA p.K318K SKCM 4 166232670 166232670 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr4:166232670C>T c.1292C>T c.(1291-1293)gCt>gTt p.A431V SKCM 4 166239029 166239029 + Missense_Mutation SNP C C T TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr4:166239029C>T c.1661C>T c.(1660-1662)tCc>tTc p.S554F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 4 166150050 166150050 single base substitution C A intron_variant BLCA-CN 4 166150050 166150050 single base substitution C A missense_variant F25L 75C>A BLCA-CN 4 166150050 166150050 single base substitution C A missense_variant H122N 364C>A BLCA-CN 4 166150050 166150050 single base substitution C A missense_variant H44N 130C>A BLCA-CN 4 166150050 166150050 single base substitution C A missense_variant H82N 244C>A BLCA-CN 4 166150050 166150050 single base substitution C A missense_variant H86N 256C>A BLCA-US 4 166220763 166220763 single base substitution G T 3_prime_UTR_variant BLCA-US 4 166220763 166220763 single base substitution G T exon_variant BLCA-US 4 166220763 166220763 single base substitution G T missense_variant M126I 378G>T BLCA-US 4 166220763 166220763 single base substitution G T missense_variant M195I 585G>T BLCA-US 4 166220763 166220763 single base substitution G T missense_variant M204I 612G>T BLCA-US 4 166220763 166220763 single base substitution G T missense_variant M292I 876G>T BLCA-US 4 166220763 166220763 single base substitution G T missense_variant M296I 888G>T BOCA-FR 4 166181312 166181312 single base substitution T C intron_variant BOCA-FR 4 166181312 166181312 single base substitution T C upstream_gene_variant BRCA-EU 4 166124459 166124459 single base substitution T C upstream_gene_variant BRCA-EU 4 166125619 166125619 single base substitution G A upstream_gene_variant BRCA-EU 4 166126082 166126082 single base substitution G C upstream_gene_variant BRCA-EU 4 166126699 166126699 single base substitution C G upstream_gene_variant BRCA-EU 4 166127139 166127139 single base substitution C A upstream_gene_variant BRCA-EU 4 166127614 166127614 single base substitution C G upstream_gene_variant BRCA-EU 4 166130177 166130177 single base substitution G T intron_variant BRCA-EU 4 166130177 166130177 single base substitution G T upstream_gene_variant BRCA-EU 4 166130420 166130420 single base substitution G A intron_variant BRCA-EU 4 166130420 166130420 single base substitution G A upstream_gene_variant BRCA-EU 4 166131743 166131743 single base substitution T C intron_variant BRCA-EU 4 166132086 166132086 single base substitution C G intron_variant BRCA-EU 4 166132941 166132941 single base substitution A C intron_variant BRCA-EU 4 166134250 166134250 single base substitution C T intron_variant BRCA-EU 4 166134815 166134815 single base substitution G A intron_variant BRCA-EU 4 166135707 166135707 single base substitution G A intron_variant BRCA-EU 4 166135850 166135850 single base substitution C T intron_variant BRCA-EU 4 166136851 166136851 single base substitution T C intron_variant BRCA-EU 4 166136851 166136851 single base substitution T C upstream_gene_variant BRCA-EU 4 166137320 166137320 single base substitution C T intron_variant BRCA-EU 4 166137320 166137320 single base substitution C T upstream_gene_variant BRCA-EU 4 166138249 166138249 single base substitution A T intron_variant BRCA-EU 4 166138249 166138249 single base substitution A T upstream_gene_variant BRCA-EU 4 166143593 166143593 single base substitution G C intron_variant BRCA-EU 4 166145381 166145381 single base substitution A T intron_variant BRCA-EU 4 166145457 166145457 single base substitution G C intron_variant BRCA-EU 4 166145975 166145975 single base substitution C G intron_variant BRCA-EU 4 166148397 166148397 single base substitution C T intron_variant BRCA-EU 4 166148467 166148467 single base substitution T C intron_variant BRCA-EU 4 166152006 166152006 single base substitution T C intron_variant BRCA-EU 4 166152601 166152601 single base substitution T G intron_variant BRCA-EU 4 166153671 166153671 single base substitution C A intron_variant BRCA-EU 4 166153884 166153884 single base substitution A G intron_variant BRCA-EU 4 166153903 166153903 single base substitution T G intron_variant BRCA-EU 4 166153919 166153919 single base substitution A T intron_variant BRCA-EU 4 166155098 166155098 single base substitution C G intron_variant BRCA-EU 4 166155098 166155098 single base substitution C G upstream_gene_variant BRCA-EU 4 166156148 166156148 single base substitution C T intron_variant BRCA-EU 4 166156148 166156148 single base substitution C T upstream_gene_variant BRCA-EU 4 166156151 166156151 insertion of <=200bp - A intron_variant BRCA-EU 4 166156151 166156151 insertion of <=200bp - A upstream_gene_variant BRCA-EU 4 166156426 166156426 single base substitution C G intron_variant BRCA-EU 4 166156426 166156426 single base substitution C G upstream_gene_variant BRCA-EU 4 166156844 166156844 single base substitution G C intron_variant BRCA-EU 4 166156844 166156844 single base substitution G C upstream_gene_variant BRCA-EU 4 166161026 166161026 insertion of <=200bp - T downstream_gene_variant BRCA-EU 4 166161026 166161026 insertion of <=200bp - T intron_variant BRCA-EU 4 166161026 166161026 insertion of <=200bp - T upstream_gene_variant BRCA-EU 4 166165101 166165101 single base substitution T C intron_variant BRCA-EU 4 166165244 166165244 single base substitution G C intron_variant BRCA-EU 4 166165265 166165265 single base substitution C G intron_variant BRCA-EU 4 166169179 166169179 insertion of <=200bp - A intron_variant BRCA-EU 4 166170563 166170563 single base substitution A G intron_variant BRCA-EU 4 166170897 166170897 single base substitution G T intron_variant BRCA-EU 4 166175330 166175330 single base substitution T C intron_variant BRCA-EU 4 166175449 166175449 single base substitution A T intron_variant BRCA-EU 4 166175534 166175534 deletion of <=200bp T - intron_variant BRCA-EU 4 166175987 166175987 single base substitution C T intron_variant BRCA-EU 4 166177058 166177058 single base substitution C G intron_variant BRCA-EU 4 166179861 166179861 single base substitution C G intron_variant BRCA-EU 4 166179861 166179861 single base substitution C G upstream_gene_variant BRCA-EU 4 166181524 166181524 deletion of <=200bp A - intron_variant BRCA-EU 4 166181524 166181524 deletion of <=200bp A - upstream_gene_variant BRCA-EU 4 166181731 166181731 single base substitution G T intron_variant BRCA-EU 4 166181731 166181731 single base substitution G T upstream_gene_variant BRCA-EU 4 166182295 166182295 deletion of <=200bp G - intron_variant BRCA-EU 4 166182295 166182295 deletion of <=200bp G - upstream_gene_variant BRCA-EU 4 166183144 166183144 single base substitution C T intron_variant BRCA-EU 4 166183144 166183144 single base substitution C T upstream_gene_variant BRCA-EU 4 166184778 166184778 single base substitution C T downstream_gene_variant BRCA-EU 4 166184778 166184778 single base substitution C T intron_variant BRCA-EU 4 166184907 166184907 single base substitution A G downstream_gene_variant BRCA-EU 4 166184907 166184907 single base substitution A G intron_variant BRCA-EU 4 166188345 166188345 single base substitution C T downstream_gene_variant BRCA-EU 4 166188345 166188345 single base substitution C T intron_variant BRCA-EU 4 166188412 166188412 single base substitution G A downstream_gene_variant BRCA-EU 4 166188412 166188412 single base substitution G A intron_variant BRCA-EU 4 166188902 166188902 single base substitution C G downstream_gene_variant BRCA-EU 4 166188902 166188902 single base substitution C G intron_variant BRCA-EU 4 166189540 166189540 single base substitution C A intron_variant BRCA-EU 4 166190333 166190333 single base substitution C T intron_variant BRCA-EU 4 166191744 166191744 single base substitution G T intron_variant BRCA-EU 4 166192908 166192908 single base substitution A T intron_variant BRCA-EU 4 166193689 166193689 single base substitution G C intron_variant BRCA-EU 4 166195011 166195011 single base substitution G T intron_variant BRCA-EU 4 166197346 166197346 single base substitution G A intron_variant BRCA-EU 4 166199921 166199921 single base substitution A T intron_variant BRCA-EU 4 166199953 166199953 single base substitution C T intron_variant BRCA-EU 4 166201393 166201393 single base substitution A G intron_variant BRCA-EU 4 166201601 166201601 single base substitution C T intron_variant BRCA-EU 4 166202777 166202777 single base substitution C G intron_variant BRCA-EU 4 166203119 166203119 single base substitution G A intron_variant BRCA-EU 4 166205414 166205414 single base substitution T C intron_variant BRCA-EU 4 166205708 166205708 deletion of <=200bp T - intron_variant BRCA-EU 4 166205737 166205737 single base substitution A G intron_variant BRCA-EU 4 166205903 166205903 single base substitution C T intron_variant BRCA-EU 4 166206548 166206548 single base substitution A G intron_variant BRCA-EU 4 166207310 166207310 single base substitution C T intron_variant BRCA-EU 4 166209542 166209542 single base substitution T C intron_variant BRCA-EU 4 166209690 166209690 single base substitution G A intron_variant BRCA-EU 4 166209855 166209855 single base substitution G A intron_variant BRCA-EU 4 166210312 166210312 single base substitution C T intron_variant BRCA-EU 4 166210857 166210857 single base substitution C T intron_variant BRCA-EU 4 166212183 166212183 single base substitution C T intron_variant BRCA-EU 4 166212664 166212664 single base substitution G T intron_variant BRCA-EU 4 166212807 166212807 single base substitution C G intron_variant BRCA-EU 4 166213462 166213462 single base substitution T C intron_variant BRCA-EU 4 166214523 166214523 single base substitution T C intron_variant BRCA-EU 4 166217022 166217022 single base substitution A G intron_variant BRCA-EU 4 166217464 166217464 single base substitution C G intron_variant BRCA-EU 4 166218555 166218555 single base substitution T G intron_variant BRCA-EU 4 166218901 166218901 single base substitution G T intron_variant BRCA-EU 4 166219692 166219692 single base substitution T C intron_variant BRCA-EU 4 166220221 166220221 single base substitution G C intron_variant BRCA-EU 4 166221002 166221002 single base substitution T A intron_variant BRCA-EU 4 166221780 166221780 single base substitution C G intron_variant BRCA-EU 4 166222176 166222176 single base substitution G A intron_variant BRCA-EU 4 166222544 166222544 single base substitution T A intron_variant BRCA-EU 4 166223282 166223282 single base substitution G T intron_variant BRCA-EU 4 166225445 166225445 deletion of <=200bp T - intron_variant BRCA-EU 4 166225684 166225684 single base substitution T C intron_variant BRCA-EU 4 166226572 166226572 single base substitution T C intron_variant BRCA-EU 4 166226966 166226966 single base substitution C T intron_variant BRCA-EU 4 166228293 166228293 single base substitution C T intron_variant BRCA-EU 4 166230623 166230623 single base substitution C G intron_variant BRCA-EU 4 166232377 166232377 single base substitution C G downstream_gene_variant BRCA-EU 4 166232377 166232377 single base substitution C G intron_variant BRCA-EU 4 166232645 166232645 single base substitution A T 3_prime_UTR_variant BRCA-EU 4 166232645 166232645 single base substitution A T downstream_gene_variant BRCA-EU 4 166232645 166232645 single base substitution A T exon_variant BRCA-EU 4 166232645 166232645 single base substitution A T stop_gained K257* 769A>T BRCA-EU 4 166232645 166232645 single base substitution A T stop_gained K326* 976A>T BRCA-EU 4 166232645 166232645 single base substitution A T stop_gained K335* 1003A>T BRCA-EU 4 166232645 166232645 single base substitution A T stop_gained K423* 1267A>T BRCA-EU 4 166232645 166232645 single base substitution A T stop_gained K427* 1279A>T BRCA-EU 4 166235497 166235497 single base substitution C T downstream_gene_variant BRCA-EU 4 166235497 166235497 single base substitution C T intron_variant BRCA-EU 4 166235963 166235963 single base substitution C T downstream_gene_variant BRCA-EU 4 166235963 166235963 single base substitution C T intron_variant BRCA-EU 4 166236682 166236682 single base substitution G T downstream_gene_variant BRCA-EU 4 166236682 166236682 single base substitution G T intron_variant BRCA-EU 4 166237596 166237596 single base substitution C T intron_variant BRCA-EU 4 166237879 166237879 insertion of <=200bp - A intron_variant BRCA-EU 4 166238535 166238535 single base substitution G C intron_variant BRCA-EU 4 166238590 166238590 single base substitution C G intron_variant BRCA-EU 4 166238830 166238830 single base substitution A G intron_variant BRCA-EU 4 166239206 166239206 single base substitution G C intron_variant BRCA-EU 4 166240745 166240745 single base substitution T C intron_variant BRCA-EU 4 166242690 166242690 single base substitution A G intron_variant BRCA-EU 4 166244632 166244632 single base substitution C T downstream_gene_variant BRCA-EU 4 166246225 166246225 single base substitution C G downstream_gene_variant BRCA-EU 4 166247284 166247285 deletion of <=200bp AG - downstream_gene_variant BRCA-EU 4 166248375 166248375 single base substitution G A downstream_gene_variant BRCA-EU 4 166248821 166248821 single base substitution G T downstream_gene_variant BRCA-FR 4 166126082 166126082 single base substitution G C upstream_gene_variant BRCA-FR 4 166127614 166127614 single base substitution C G upstream_gene_variant BRCA-FR 4 166134061 166134061 single base substitution G T intron_variant BRCA-FR 4 166134898 166134898 single base substitution A C intron_variant BRCA-FR 4 166135011 166135011 single base substitution G A intron_variant BRCA-FR 4 166135105 166135105 single base substitution A G intron_variant BRCA-FR 4 166135850 166135850 single base substitution C T intron_variant BRCA-FR 4 166143593 166143593 single base substitution G C intron_variant BRCA-FR 4 166147056 166147056 single base substitution A G intron_variant BRCA-FR 4 166147255 166147255 single base substitution A G intron_variant BRCA-FR 4 166149905 166149905 single base substitution C G intron_variant BRCA-FR 4 166149915 166149915 single base substitution G A intron_variant BRCA-FR 4 166154555 166154555 single base substitution C T intron_variant BRCA-FR 4 166155098 166155098 single base substitution C G intron_variant BRCA-FR 4 166155098 166155098 single base substitution C G upstream_gene_variant BRCA-FR 4 166156426 166156426 single base substitution C G intron_variant BRCA-FR 4 166156426 166156426 single base substitution C G upstream_gene_variant BRCA-FR 4 166161251 166161251 single base substitution G A downstream_gene_variant BRCA-FR 4 166161251 166161251 single base substitution G A intron_variant BRCA-FR 4 166161251 166161251 single base substitution G A upstream_gene_variant BRCA-FR 4 166161969 166161969 single base substitution C A downstream_gene_variant BRCA-FR 4 166161969 166161969 single base substitution C A intron_variant BRCA-FR 4 166161972 166161972 single base substitution A C downstream_gene_variant BRCA-FR 4 166161972 166161972 single base substitution A C intron_variant BRCA-FR 4 166163874 166163874 single base substitution T C downstream_gene_variant BRCA-FR 4 166163874 166163874 single base substitution T C intron_variant BRCA-FR 4 166163986 166163986 single base substitution A G downstream_gene_variant BRCA-FR 4 166163986 166163986 single base substitution A G intron_variant BRCA-FR 4 166164040 166164040 single base substitution A G downstream_gene_variant BRCA-FR 4 166164040 166164040 single base substitution A G intron_variant BRCA-FR 4 166164879 166164879 single base substitution C G downstream_gene_variant BRCA-FR 4 166164879 166164879 single base substitution C G intron_variant BRCA-FR 4 166165265 166165265 single base substitution C G intron_variant BRCA-FR 4 166177325 166177325 single base substitution C T intron_variant BRCA-FR 4 166178246 166178246 single base substitution T A intron_variant BRCA-FR 4 166179861 166179861 single base substitution C G intron_variant BRCA-FR 4 166179861 166179861 single base substitution C G upstream_gene_variant BRCA-FR 4 166181731 166181731 single base substitution G T intron_variant BRCA-FR 4 166181731 166181731 single base substitution G T upstream_gene_variant BRCA-FR 4 166182943 166182943 single base substitution C T intron_variant BRCA-FR 4 166182943 166182943 single base substitution C T upstream_gene_variant BRCA-FR 4 166183174 166183174 single base substitution C T intron_variant BRCA-FR 4 166183174 166183174 single base substitution C T upstream_gene_variant BRCA-FR 4 166188276 166188276 single base substitution G A downstream_gene_variant BRCA-FR 4 166188276 166188276 single base substitution G A intron_variant BRCA-FR 4 166202844 166202844 single base substitution A G intron_variant BRCA-FR 4 166205216 166205216 single base substitution A C intron_variant BRCA-FR 4 166207364 166207364 single base substitution C G intron_variant BRCA-FR 4 166208219 166208219 single base substitution A G intron_variant BRCA-FR 4 166208458 166208458 single base substitution T A intron_variant BRCA-FR 4 166213110 166213110 single base substitution A G intron_variant BRCA-FR 4 166217464 166217464 single base substitution C G intron_variant BRCA-FR 4 166228013 166228013 single base substitution G A intron_variant BRCA-FR 4 166230623 166230623 single base substitution C G intron_variant BRCA-FR 4 166238535 166238535 single base substitution G C intron_variant BRCA-FR 4 166246164 166246164 single base substitution G A downstream_gene_variant BRCA-FR 4 166246225 166246225 single base substitution C G downstream_gene_variant BRCA-UK 4 166128710 166128710 single base substitution C T upstream_gene_variant BRCA-UK 4 166151628 166151628 single base substitution T A intron_variant BRCA-UK 4 166157218 166157218 single base substitution T G intron_variant BRCA-UK 4 166157218 166157218 single base substitution T G upstream_gene_variant BRCA-UK 4 166159541 166159541 single base substitution T C intron_variant BRCA-UK 4 166159541 166159541 single base substitution T C upstream_gene_variant BRCA-UK 4 166159762 166159762 single base substitution G A intron_variant BRCA-UK 4 166159762 166159762 single base substitution G A upstream_gene_variant BRCA-UK 4 166160613 166160613 single base substitution C T downstream_gene_variant BRCA-UK 4 166160613 166160613 single base substitution C T intron_variant BRCA-UK 4 166160613 166160613 single base substitution C T upstream_gene_variant BRCA-UK 4 166161789 166161789 single base substitution C G downstream_gene_variant BRCA-UK 4 166161789 166161789 single base substitution C G intron_variant BRCA-UK 4 166163430 166163430 single base substitution T C downstream_gene_variant BRCA-UK 4 166163430 166163430 single base substitution T C intron_variant BRCA-UK 4 166166263 166166263 single base substitution A G intron_variant BRCA-UK 4 166177529 166177529 single base substitution T G intron_variant BRCA-UK 4 166219092 166219092 single base substitution C T intron_variant BRCA-UK 4 166222176 166222176 single base substitution G A intron_variant BRCA-UK 4 166223706 166223706 single base substitution C T intron_variant BRCA-US 4 166160017 166160017 single base substitution C T 3_prime_UTR_variant BRCA-US 4 166160017 166160017 single base substitution C T downstream_gene_variant BRCA-US 4 166160017 166160017 single base substitution C T exon_variant BRCA-US 4 166160017 166160017 single base substitution C T intron_variant BRCA-US 4 166160017 166160017 single base substitution C T missense_variant T116I 347C>T BRCA-US 4 166160017 166160017 single base substitution C T missense_variant T120I 359C>T BRCA-US 4 166160017 166160017 single base substitution C T missense_variant T28I 83C>T BRCA-US 4 166160017 166160017 single base substitution C T missense_variant T78I 233C>T BRCA-US 4 166160017 166160017 single base substitution C T upstream_gene_variant BTCA-JP 4 166129038 166129038 single base substitution C T missense_variant P4S 10C>T BTCA-JP 4 166129038 166129038 single base substitution C T upstream_gene_variant BTCA-JP 4 166149926 166149926 single base substitution C T intron_variant BTCA-JP 4 166150086 166150086 single base substitution A G intron_variant BTCA-JP 4 166150146 166150146 single base substitution G A intron_variant BTCA-JP 4 166160009 166160009 single base substitution T C 3_prime_UTR_variant BTCA-JP 4 166160009 166160009 single base substitution T C downstream_gene_variant BTCA-JP 4 166160009 166160009 single base substitution T C exon_variant BTCA-JP 4 166160009 166160009 single base substitution T C intron_variant BTCA-JP 4 166160009 166160009 single base substitution T C synonymous_variant Y113Y 339T>C BTCA-JP 4 166160009 166160009 single base substitution T C synonymous_variant Y117Y 351T>C BTCA-JP 4 166160009 166160009 single base substitution T C synonymous_variant Y25Y 75T>C BTCA-JP 4 166160009 166160009 single base substitution T C synonymous_variant Y75Y 225T>C BTCA-JP 4 166160009 166160009 single base substitution T C upstream_gene_variant BTCA-JP 4 166160133 166160133 single base substitution A T downstream_gene_variant BTCA-JP 4 166160133 166160133 single base substitution A T intron_variant BTCA-JP 4 166160133 166160133 single base substitution A T upstream_gene_variant BTCA-JP 4 166160137 166160137 single base substitution G T downstream_gene_variant BTCA-JP 4 166160137 166160137 single base substitution G T intron_variant BTCA-JP 4 166160137 166160137 single base substitution G T upstream_gene_variant BTCA-JP 4 166218659 166218659 single base substitution G T intron_variant CESC-US 4 166231823 166231823 single base substitution G A 3_prime_UTR_variant CESC-US 4 166231823 166231823 single base substitution G A exon_variant CESC-US 4 166231823 166231823 single base substitution G A missense_variant M220I 660G>A CESC-US 4 166231823 166231823 single base substitution G A missense_variant M289I 867G>A CESC-US 4 166231823 166231823 single base substitution G A missense_variant M298I 894G>A CESC-US 4 166231823 166231823 single base substitution G A missense_variant M386I 1158G>A CESC-US 4 166231823 166231823 single base substitution G A missense_variant M390I 1170G>A CESC-US 4 166231890 166231890 single base substitution G C 3_prime_UTR_variant CESC-US 4 166231890 166231890 single base substitution G C exon_variant CESC-US 4 166231890 166231890 single base substitution G C missense_variant D243H 727G>C CESC-US 4 166231890 166231890 single base substitution G C missense_variant D312H 934G>C CESC-US 4 166231890 166231890 single base substitution G C missense_variant D321H 961G>C CESC-US 4 166231890 166231890 single base substitution G C missense_variant D409H 1225G>C CESC-US 4 166231890 166231890 single base substitution G C missense_variant D413H 1237G>C CESC-US 4 166235222 166235222 single base substitution G C 3_prime_UTR_variant CESC-US 4 166235222 166235222 single base substitution G C downstream_gene_variant CESC-US 4 166235222 166235222 single base substitution G C exon_variant CESC-US 4 166235222 166235222 single base substitution G C missense_variant D339H 1015G>C CESC-US 4 166235222 166235222 single base substitution G C missense_variant D408H 1222G>C CESC-US 4 166235222 166235222 single base substitution G C missense_variant D417H 1249G>C CESC-US 4 166235222 166235222 single base substitution G C missense_variant D505H 1513G>C CESC-US 4 166235222 166235222 single base substitution G C missense_variant D509H 1525G>C CLLE-ES 4 166132613 166132613 single base substitution C G intron_variant CLLE-ES 4 166142002 166142002 single base substitution A G intron_variant CLLE-ES 4 166145957 166145957 single base substitution A C intron_variant CLLE-ES 4 166156325 166156325 single base substitution G A intron_variant CLLE-ES 4 166156325 166156325 single base substitution G A upstream_gene_variant CLLE-ES 4 166170265 166170265 single base substitution G C intron_variant CLLE-ES 4 166190991 166190991 single base substitution A G intron_variant CLLE-ES 4 166196295 166196295 single base substitution G T intron_variant CLLE-ES 4 166219167 166219167 single base substitution G T intron_variant CLLE-ES 4 166236128 166236128 single base substitution T C downstream_gene_variant CLLE-ES 4 166236128 166236128 single base substitution T C intron_variant COAD-US 4 166131313 166131313 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 4 166131313 166131313 single base substitution C T exon_variant COAD-US 4 166131313 166131313 single base substitution C T intron_variant COAD-US 4 166131313 166131313 single base substitution C T missense_variant R7W 19C>T COAD-US 4 166131315 166131315 single base substitution G A 5_prime_UTR_variant COAD-US 4 166131315 166131315 single base substitution G A exon_variant COAD-US 4 166131315 166131315 single base substitution G A intron_variant COAD-US 4 166131315 166131315 single base substitution G A synonymous_variant R7R 21G>A COCA-CN 4 166134959 166134959 single base substitution G T intron_variant COCA-CN 4 166149298 166149298 single base substitution T C intron_variant COCA-CN 4 166149915 166149915 single base substitution G A intron_variant COCA-CN 4 166150086 166150086 single base substitution A G intron_variant COCA-CN 4 166150927 166150927 single base substitution C G intron_variant COCA-CN 4 166160005 166160005 single base substitution A T 3_prime_UTR_variant COCA-CN 4 166160005 166160005 single base substitution A T downstream_gene_variant COCA-CN 4 166160005 166160005 single base substitution A T exon_variant COCA-CN 4 166160005 166160005 single base substitution A T intron_variant COCA-CN 4 166160005 166160005 single base substitution A T missense_variant D112V 335A>T COCA-CN 4 166160005 166160005 single base substitution A T missense_variant D116V 347A>T COCA-CN 4 166160005 166160005 single base substitution A T missense_variant D24V 71A>T COCA-CN 4 166160005 166160005 single base substitution A T missense_variant D74V 221A>T COCA-CN 4 166160005 166160005 single base substitution A T upstream_gene_variant COCA-CN 4 166160133 166160133 single base substitution A T downstream_gene_variant COCA-CN 4 166160133 166160133 single base substitution A T intron_variant COCA-CN 4 166160133 166160133 single base substitution A T upstream_gene_variant COCA-CN 4 166160137 166160137 single base substitution G T downstream_gene_variant COCA-CN 4 166160137 166160137 single base substitution G T intron_variant COCA-CN 4 166160137 166160137 single base substitution G T upstream_gene_variant COCA-CN 4 166200283 166200283 single base substitution C T intron_variant COCA-CN 4 166200896 166200896 single base substitution G A intron_variant COCA-CN 4 166235333 166235333 single base substitution A G downstream_gene_variant COCA-CN 4 166235333 166235333 single base substitution A G intron_variant EOPC-DE 4 166192328 166192328 single base substitution A C intron_variant EOPC-DE 4 166225008 166225008 single base substitution G A intron_variant EOPC-DE 4 166238563 166238563 single base substitution G A intron_variant ESAD-UK 4 166123829 166123829 single base substitution T G upstream_gene_variant ESAD-UK 4 166126214 166126214 single base substitution T G upstream_gene_variant ESAD-UK 4 166126746 166126746 single base substitution A T upstream_gene_variant ESAD-UK 4 166127096 166127096 single base substitution A T upstream_gene_variant ESAD-UK 4 166127326 166127326 single base substitution T C upstream_gene_variant ESAD-UK 4 166127403 166127403 single base substitution G A upstream_gene_variant ESAD-UK 4 166128775 166128775 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 4 166128775 166128775 single base substitution C T upstream_gene_variant ESAD-UK 4 166129051 166129051 single base substitution C T missense_variant P8L 23C>T ESAD-UK 4 166129051 166129051 single base substitution C T upstream_gene_variant ESAD-UK 4 166129061 166129061 single base substitution G T intron_variant ESAD-UK 4 166129061 166129061 single base substitution G T upstream_gene_variant ESAD-UK 4 166129875 166129875 single base substitution G A intron_variant ESAD-UK 4 166129875 166129875 single base substitution G A upstream_gene_variant ESAD-UK 4 166130394 166130394 single base substitution G A intron_variant ESAD-UK 4 166130394 166130394 single base substitution G A upstream_gene_variant ESAD-UK 4 166134565 166134565 single base substitution T C intron_variant ESAD-UK 4 166135088 166135088 single base substitution T A intron_variant ESAD-UK 4 166135775 166135775 single base substitution C A intron_variant ESAD-UK 4 166135863 166135863 single base substitution A C intron_variant ESAD-UK 4 166137968 166137968 single base substitution T C intron_variant ESAD-UK 4 166137968 166137968 single base substitution T C upstream_gene_variant ESAD-UK 4 166138373 166138373 single base substitution C T intron_variant ESAD-UK 4 166138373 166138373 single base substitution C T upstream_gene_variant ESAD-UK 4 166138571 166138571 single base substitution C T intron_variant ESAD-UK 4 166138571 166138571 single base substitution C T upstream_gene_variant ESAD-UK 4 166140860 166140860 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 4 166140860 166140860 single base substitution T C intron_variant ESAD-UK 4 166140860 166140860 single base substitution T C upstream_gene_variant ESAD-UK 4 166141489 166141489 deletion of <=200bp A - intron_variant ESAD-UK 4 166145778 166145778 single base substitution G A intron_variant ESAD-UK 4 166145948 166145948 single base substitution T C intron_variant ESAD-UK 4 166149056 166149056 single base substitution T C intron_variant ESAD-UK 4 166150089 166150089 single base substitution C T intron_variant ESAD-UK 4 166150260 166150260 single base substitution G T intron_variant ESAD-UK 4 166152033 166152033 single base substitution G T intron_variant ESAD-UK 4 166152730 166152730 single base substitution T C intron_variant ESAD-UK 4 166153730 166153730 single base substitution A T intron_variant ESAD-UK 4 166154327 166154327 single base substitution T C intron_variant ESAD-UK 4 166157530 166157530 deletion of <=200bp T - intron_variant ESAD-UK 4 166157530 166157530 deletion of <=200bp T - upstream_gene_variant ESAD-UK 4 166160500 166160500 single base substitution G A downstream_gene_variant ESAD-UK 4 166160500 166160500 single base substitution G A intron_variant ESAD-UK 4 166160500 166160500 single base substitution G A upstream_gene_variant ESAD-UK 4 166162317 166162317 single base substitution A T downstream_gene_variant ESAD-UK 4 166162317 166162317 single base substitution A T intron_variant ESAD-UK 4 166163666 166163666 single base substitution T C downstream_gene_variant ESAD-UK 4 166163666 166163666 single base substitution T C intron_variant ESAD-UK 4 166164789 166164789 single base substitution A C downstream_gene_variant ESAD-UK 4 166164789 166164789 single base substitution A C intron_variant ESAD-UK 4 166168844 166168844 single base substitution T C intron_variant ESAD-UK 4 166169196 166169196 single base substitution T C intron_variant ESAD-UK 4 166169453 166169453 single base substitution G T intron_variant ESAD-UK 4 166172184 166172184 deletion of <=200bp T - intron_variant ESAD-UK 4 166174398 166174398 single base substitution C G intron_variant ESAD-UK 4 166176324 166176324 single base substitution C T intron_variant ESAD-UK 4 166177472 166177472 deletion of <=200bp T - intron_variant ESAD-UK 4 166179695 166179695 single base substitution A T intron_variant ESAD-UK 4 166179695 166179695 single base substitution A T upstream_gene_variant ESAD-UK 4 166181381 166181381 single base substitution G A intron_variant ESAD-UK 4 166181381 166181381 single base substitution G A upstream_gene_variant ESAD-UK 4 166181729 166181729 single base substitution T G intron_variant ESAD-UK 4 166181729 166181729 single base substitution T G upstream_gene_variant ESAD-UK 4 166182242 166182256 deletion of <=200bp ACTGAAGACCACTTT - intron_variant ESAD-UK 4 166182242 166182256 deletion of <=200bp ACTGAAGACCACTTT - upstream_gene_variant ESAD-UK 4 166184221 166184221 single base substitution T C intron_variant ESAD-UK 4 166184221 166184221 single base substitution T C upstream_gene_variant ESAD-UK 4 166184231 166184231 single base substitution G A intron_variant ESAD-UK 4 166184231 166184231 single base substitution G A upstream_gene_variant ESAD-UK 4 166185334 166185334 single base substitution T C downstream_gene_variant ESAD-UK 4 166185334 166185334 single base substitution T C intron_variant ESAD-UK 4 166186500 166186500 single base substitution T C downstream_gene_variant ESAD-UK 4 166186500 166186500 single base substitution T C intron_variant ESAD-UK 4 166186759 166186759 single base substitution C T downstream_gene_variant ESAD-UK 4 166186759 166186759 single base substitution C T intron_variant ESAD-UK 4 166188728 166188728 single base substitution G T downstream_gene_variant ESAD-UK 4 166188728 166188728 single base substitution G T intron_variant ESAD-UK 4 166191258 166191258 single base substitution C G intron_variant ESAD-UK 4 166192463 166192463 single base substitution C T intron_variant ESAD-UK 4 166196251 166196251 insertion of <=200bp - TTTAT intron_variant ESAD-UK 4 166197729 166197729 single base substitution A C intron_variant ESAD-UK 4 166199442 166199442 single base substitution G A intron_variant ESAD-UK 4 166200857 166200857 single base substitution G A intron_variant ESAD-UK 4 166203681 166203681 single base substitution T C intron_variant ESAD-UK 4 166209307 166209307 single base substitution G A intron_variant ESAD-UK 4 166213401 166213401 single base substitution T A intron_variant ESAD-UK 4 166213459 166213459 deletion of <=200bp T - intron_variant ESAD-UK 4 166213666 166213666 single base substitution G T intron_variant ESAD-UK 4 166213948 166213948 single base substitution C G intron_variant ESAD-UK 4 166214572 166214572 deletion of <=200bp A - intron_variant ESAD-UK 4 166215503 166215503 single base substitution C T splice_region_variant ESAD-UK 4 166217863 166217863 single base substitution G A intron_variant ESAD-UK 4 166218169 166218169 single base substitution A G intron_variant ESAD-UK 4 166218195 166218195 single base substitution C G intron_variant ESAD-UK 4 166218842 166218842 single base substitution C T 3_prime_UTR_variant ESAD-UK 4 166218842 166218842 single base substitution C T exon_variant ESAD-UK 4 166218842 166218842 single base substitution C T missense_variant R149W 445C>T ESAD-UK 4 166218842 166218842 single base substitution C T missense_variant R158W 472C>T ESAD-UK 4 166218842 166218842 single base substitution C T missense_variant R246W 736C>T ESAD-UK 4 166218842 166218842 single base substitution C T missense_variant R250W 748C>T ESAD-UK 4 166218842 166218842 single base substitution C T missense_variant R80W 238C>T ESAD-UK 4 166219119 166219119 single base substitution G T intron_variant ESAD-UK 4 166219392 166219392 single base substitution C T intron_variant ESAD-UK 4 166220792 166220792 single base substitution C T 3_prime_UTR_variant ESAD-UK 4 166220792 166220792 single base substitution C T exon_variant ESAD-UK 4 166220792 166220792 single base substitution C T missense_variant P136L 407C>T ESAD-UK 4 166220792 166220792 single base substitution C T missense_variant P205L 614C>T ESAD-UK 4 166220792 166220792 single base substitution C T missense_variant P214L 641C>T ESAD-UK 4 166220792 166220792 single base substitution C T missense_variant P302L 905C>T ESAD-UK 4 166220792 166220792 single base substitution C T missense_variant P306L 917C>T ESAD-UK 4 166222369 166222369 single base substitution A T intron_variant ESAD-UK 4 166224861 166224861 single base substitution C T intron_variant ESAD-UK 4 166224963 166224963 single base substitution G A intron_variant ESAD-UK 4 166226016 166226016 single base substitution T C intron_variant ESAD-UK 4 166228044 166228044 single base substitution C T intron_variant ESAD-UK 4 166230018 166230018 single base substitution T C intron_variant ESAD-UK 4 166230523 166230523 single base substitution G A intron_variant ESAD-UK 4 166232164 166232164 single base substitution G A downstream_gene_variant ESAD-UK 4 166232164 166232164 single base substitution G A intron_variant ESAD-UK 4 166232649 166232649 single base substitution C T 3_prime_UTR_variant ESAD-UK 4 166232649 166232649 single base substitution C T downstream_gene_variant ESAD-UK 4 166232649 166232649 single base substitution C T exon_variant ESAD-UK 4 166232649 166232649 single base substitution C T missense_variant S258F 773C>T ESAD-UK 4 166232649 166232649 single base substitution C T missense_variant S327F 980C>T ESAD-UK 4 166232649 166232649 single base substitution C T missense_variant S336F 1007C>T ESAD-UK 4 166232649 166232649 single base substitution C T missense_variant S424F 1271C>T ESAD-UK 4 166232649 166232649 single base substitution C T missense_variant S428F 1283C>T ESAD-UK 4 166233216 166233216 single base substitution C T downstream_gene_variant ESAD-UK 4 166233216 166233216 single base substitution C T intron_variant ESAD-UK 4 166233329 166233329 single base substitution C A downstream_gene_variant ESAD-UK 4 166233329 166233329 single base substitution C A intron_variant ESAD-UK 4 166236284 166236284 single base substitution A C downstream_gene_variant ESAD-UK 4 166236284 166236284 single base substitution A C intron_variant ESAD-UK 4 166236335 166236335 single base substitution G A downstream_gene_variant ESAD-UK 4 166236335 166236335 single base substitution G A intron_variant ESAD-UK 4 166237969 166237969 single base substitution G C intron_variant ESAD-UK 4 166238942 166238942 single base substitution T A intron_variant ESAD-UK 4 166240193 166240193 single base substitution G A intron_variant ESAD-UK 4 166240644 166240644 single base substitution G A intron_variant ESAD-UK 4 166241546 166241546 single base substitution T C intron_variant ESAD-UK 4 166245390 166245390 deletion of <=200bp T - downstream_gene_variant ESAD-UK 4 166248288 166248288 single base substitution G A downstream_gene_variant ESCA-CN 4 166226762 166226762 single base substitution G A intron_variant ESCA-CN 4 166226762 166226762 single base substitution G A splice_region_variant GBM-US 4 166199810 166199810 single base substitution G A intron_variant GBM-US 4 166200284 166200284 single base substitution G A intron_variant KIRC-US 4 166239048 166239048 deletion of <=200bp A - 3_prime_UTR_variant KIRC-US 4 166239048 166239048 deletion of <=200bp A - exon_variant KIRC-US 4 166239048 166239048 deletion of <=200bp A - frameshift_variant V394 KIRC-US 4 166239048 166239048 deletion of <=200bp A - frameshift_variant V463 KIRC-US 4 166239048 166239048 deletion of <=200bp A - frameshift_variant V472 KIRC-US 4 166239048 166239048 deletion of <=200bp A - frameshift_variant V560 KIRC-US 4 166239048 166239048 deletion of <=200bp A - frameshift_variant V564 LAML-KR 4 166134385 166134385 single base substitution C T intron_variant LAML-KR 4 166134405 166134405 single base substitution G A intron_variant LAML-KR 4 166134708 166134708 single base substitution A G intron_variant LAML-KR 4 166134742 166134742 single base substitution T C intron_variant LAML-KR 4 166140828 166140828 single base substitution G A 5_prime_UTR_variant LAML-KR 4 166140828 166140828 single base substitution G A intron_variant LAML-KR 4 166140828 166140828 single base substitution G A upstream_gene_variant LAML-KR 4 166141308 166141308 single base substitution G T intron_variant LAML-KR 4 166142002 166142002 single base substitution A G intron_variant LAML-KR 4 166145288 166145288 single base substitution A G intron_variant LAML-KR 4 166149905 166149905 single base substitution C G intron_variant LAML-KR 4 166151569 166151569 single base substitution T A intron_variant LAML-KR 4 166154423 166154423 single base substitution G A intron_variant LAML-KR 4 166154457 166154457 single base substitution C T intron_variant LAML-KR 4 166161612 166161612 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LAML-KR 4 166161612 166161612 single base substitution G A downstream_gene_variant LAML-KR 4 166161612 166161612 single base substitution G A intron_variant LAML-KR 4 166165001 166165001 single base substitution G A intron_variant LAML-KR 4 166165083 166165083 single base substitution T C intron_variant LAML-KR 4 166172129 166172129 single base substitution A G intron_variant LAML-KR 4 166172465 166172465 single base substitution T G intron_variant LAML-KR 4 166175282 166175282 single base substitution A T intron_variant LAML-KR 4 166176107 166176107 single base substitution G C intron_variant LAML-KR 4 166199860 166199860 single base substitution G A intron_variant LAML-KR 4 166211023 166211023 single base substitution T A intron_variant LAML-KR 4 166237862 166237862 single base substitution A T intron_variant LICA-FR 4 166134708 166134708 single base substitution A G intron_variant LICA-FR 4 166136476 166136476 single base substitution A G intron_variant LICA-FR 4 166136476 166136476 single base substitution A G upstream_gene_variant LICA-FR 4 166140040 166140040 single base substitution T C intron_variant LICA-FR 4 166140040 166140040 single base substitution T C upstream_gene_variant LICA-FR 4 166140265 166140265 single base substitution T A intron_variant LICA-FR 4 166140265 166140265 single base substitution T A upstream_gene_variant LICA-FR 4 166140283 166140283 single base substitution T C intron_variant LICA-FR 4 166140283 166140283 single base substitution T C upstream_gene_variant LICA-FR 4 166140828 166140828 single base substitution G A 5_prime_UTR_variant LICA-FR 4 166140828 166140828 single base substitution G A intron_variant LICA-FR 4 166140828 166140828 single base substitution G A upstream_gene_variant LICA-FR 4 166144865 166144865 single base substitution T C intron_variant LICA-FR 4 166148435 166148435 single base substitution G A intron_variant LICA-FR 4 166148828 166148828 single base substitution T G intron_variant LICA-FR 4 166149185 166149185 single base substitution G T intron_variant LICA-FR 4 166151284 166151284 single base substitution C G intron_variant LICA-FR 4 166151680 166151680 single base substitution C A intron_variant LICA-FR 4 166154229 166154229 single base substitution T G intron_variant LICA-FR 4 166154423 166154423 single base substitution G A intron_variant LICA-FR 4 166154457 166154457 single base substitution C T intron_variant LICA-FR 4 166156108 166156108 single base substitution G A intron_variant LICA-FR 4 166156108 166156108 single base substitution G A upstream_gene_variant LICA-FR 4 166156723 166156723 single base substitution A G intron_variant LICA-FR 4 166156723 166156723 single base substitution A G upstream_gene_variant LICA-FR 4 166157218 166157218 single base substitution T G intron_variant LICA-FR 4 166157218 166157218 single base substitution T G upstream_gene_variant LICA-FR 4 166157280 166157280 single base substitution A T intron_variant LICA-FR 4 166157280 166157280 single base substitution A T upstream_gene_variant LICA-FR 4 166159012 166159012 single base substitution G C intron_variant LICA-FR 4 166159012 166159012 single base substitution G C upstream_gene_variant LICA-FR 4 166160163 166160163 single base substitution A C downstream_gene_variant LICA-FR 4 166160163 166160163 single base substitution A C intron_variant LICA-FR 4 166160163 166160163 single base substitution A C upstream_gene_variant LICA-FR 4 166160793 166160793 single base substitution A G downstream_gene_variant LICA-FR 4 166160793 166160793 single base substitution A G intron_variant LICA-FR 4 166160793 166160793 single base substitution A G upstream_gene_variant LICA-FR 4 166161511 166161511 single base substitution G T 5_prime_UTR_variant LICA-FR 4 166161511 166161511 single base substitution G T downstream_gene_variant LICA-FR 4 166161511 166161511 single base substitution G T intron_variant LICA-FR 4 166164554 166164554 single base substitution G A downstream_gene_variant LICA-FR 4 166164554 166164554 single base substitution G A intron_variant LICA-FR 4 166164636 166164636 single base substitution G A downstream_gene_variant LICA-FR 4 166164636 166164636 single base substitution G A intron_variant LICA-FR 4 166165001 166165001 single base substitution G A intron_variant LICA-FR 4 166165083 166165083 single base substitution T C intron_variant LICA-FR 4 166166370 166166370 single base substitution C T intron_variant LICA-FR 4 166174941 166174941 single base substitution C T intron_variant LICA-FR 4 166176398 166176398 single base substitution A T intron_variant LICA-FR 4 166180052 166180052 single base substitution C T intron_variant LICA-FR 4 166180052 166180052 single base substitution C T upstream_gene_variant LICA-FR 4 166181312 166181312 single base substitution T C intron_variant LICA-FR 4 166181312 166181312 single base substitution T C upstream_gene_variant LICA-FR 4 166182672 166182672 single base substitution G T intron_variant LICA-FR 4 166182672 166182672 single base substitution G T upstream_gene_variant LICA-FR 4 166184445 166184445 single base substitution G A 3_prime_UTR_variant LICA-FR 4 166184445 166184445 single base substitution G A 5_prime_UTR_variant LICA-FR 4 166184445 166184445 single base substitution G A downstream_gene_variant LICA-FR 4 166184445 166184445 single base substitution G A exon_variant LICA-FR 4 166184445 166184445 single base substitution G A intron_variant LICA-FR 4 166184445 166184445 single base substitution G A missense_variant G160R 478G>A LICA-FR 4 166184445 166184445 single base substitution G A missense_variant G164R 490G>A LICA-FR 4 166184445 166184445 single base substitution G A missense_variant G63R 187G>A LICA-FR 4 166184445 166184445 single base substitution G A missense_variant G72R 214G>A LICA-FR 4 166191085 166191085 single base substitution C G intron_variant LICA-FR 4 166194202 166194202 single base substitution C A intron_variant LICA-FR 4 166198901 166198906 deletion of <=200bp ACACAC - intron_variant LICA-FR 4 166201531 166201531 single base substitution A T intron_variant LIHC-US 4 166149976 166149976 single base substitution A T initiator_codon_variant M1L 1A>T LIHC-US 4 166149976 166149976 single base substitution A T intron_variant LIHC-US 4 166149976 166149976 single base substitution A T missense_variant D19V 56A>T LIHC-US 4 166149976 166149976 single base substitution A T missense_variant D57V 170A>T LIHC-US 4 166149976 166149976 single base substitution A T missense_variant D61V 182A>T LIHC-US 4 166149976 166149976 single base substitution A T missense_variant D97V 290A>T LIHC-US 4 166220662 166220662 single base substitution G T 3_prime_UTR_variant LIHC-US 4 166220662 166220662 single base substitution G T exon_variant LIHC-US 4 166220662 166220662 single base substitution G T missense_variant V162F 484G>T LIHC-US 4 166220662 166220662 single base substitution G T missense_variant V171F 511G>T LIHC-US 4 166220662 166220662 single base substitution G T missense_variant V259F 775G>T LIHC-US 4 166220662 166220662 single base substitution G T missense_variant V263F 787G>T LIHC-US 4 166220662 166220662 single base substitution G T missense_variant V93F 277G>T LIHC-US 4 166238988 166238988 single base substitution A G 3_prime_UTR_variant LIHC-US 4 166238988 166238988 single base substitution A G exon_variant LIHC-US 4 166238988 166238988 single base substitution A G synonymous_variant A374A 1122A>G LIHC-US 4 166238988 166238988 single base substitution A G synonymous_variant A443A 1329A>G LIHC-US 4 166238988 166238988 single base substitution A G synonymous_variant A452A 1356A>G LIHC-US 4 166238988 166238988 single base substitution A G synonymous_variant A540A 1620A>G LIHC-US 4 166238988 166238988 single base substitution A G synonymous_variant A544A 1632A>G LINC-JP 4 166125902 166125902 single base substitution C A upstream_gene_variant LINC-JP 4 166131007 166131007 single base substitution G A intron_variant LINC-JP 4 166131007 166131007 single base substitution G A upstream_gene_variant LINC-JP 4 166132636 166132636 single base substitution C G intron_variant LINC-JP 4 166136219 166136219 single base substitution A G intron_variant LINC-JP 4 166136219 166136219 single base substitution A G upstream_gene_variant LINC-JP 4 166136894 166136894 single base substitution A G intron_variant LINC-JP 4 166136894 166136894 single base substitution A G upstream_gene_variant LINC-JP 4 166138763 166138763 single base substitution A G intron_variant LINC-JP 4 166138763 166138763 single base substitution A G upstream_gene_variant LINC-JP 4 166140532 166140532 single base substitution A G intron_variant LINC-JP 4 166140532 166140532 single base substitution A G upstream_gene_variant LINC-JP 4 166144865 166144865 single base substitution T C intron_variant LINC-JP 4 166145028 166145028 single base substitution A G intron_variant LINC-JP 4 166149524 166149524 deletion of <=200bp T - intron_variant LINC-JP 4 166150086 166150086 single base substitution A G intron_variant LINC-JP 4 166150146 166150146 single base substitution G A intron_variant LINC-JP 4 166151359 166151359 single base substitution C T intron_variant LINC-JP 4 166184257 166184257 single base substitution A G intron_variant LINC-JP 4 166184257 166184257 single base substitution A G upstream_gene_variant LINC-JP 4 166191011 166191011 single base substitution T A intron_variant LINC-JP 4 166197663 166197663 deletion of <=200bp T - intron_variant LINC-JP 4 166215707 166215707 single base substitution T A intron_variant LINC-JP 4 166218692 166218692 single base substitution C T intron_variant LINC-JP 4 166234561 166234561 deletion of <=200bp G - downstream_gene_variant LINC-JP 4 166234561 166234561 deletion of <=200bp G - intron_variant LINC-JP 4 166243285 166243285 single base substitution A C 3_prime_UTR_variant LINC-JP 4 166243285 166243285 single base substitution A C exon_variant LINC-JP 4 166243288 166243288 single base substitution T C 3_prime_UTR_variant LINC-JP 4 166243288 166243288 single base substitution T C exon_variant LINC-JP 4 166246033 166246033 single base substitution C A downstream_gene_variant LINC-JP 4 166247150 166247150 single base substitution T G downstream_gene_variant LINC-JP 4 166247167 166247167 single base substitution T A downstream_gene_variant LIRI-JP 4 166123840 166123840 single base substitution T G upstream_gene_variant LIRI-JP 4 166124158 166124158 single base substitution C A upstream_gene_variant LIRI-JP 4 166130884 166130884 single base substitution T G intron_variant LIRI-JP 4 166130884 166130884 single base substitution T G upstream_gene_variant LIRI-JP 4 166131434 166131434 single base substitution C A intron_variant LIRI-JP 4 166131451 166131451 single base substitution T G intron_variant LIRI-JP 4 166133958 166133958 single base substitution A G intron_variant LIRI-JP 4 166136228 166136228 single base substitution T C intron_variant LIRI-JP 4 166136228 166136228 single base substitution T C upstream_gene_variant LIRI-JP 4 166136869 166136869 single base substitution G A intron_variant LIRI-JP 4 166136869 166136869 single base substitution G A upstream_gene_variant LIRI-JP 4 166136894 166136894 single base substitution A G intron_variant LIRI-JP 4 166136894 166136894 single base substitution A G upstream_gene_variant LIRI-JP 4 166138747 166138747 single base substitution T C intron_variant LIRI-JP 4 166138747 166138747 single base substitution T C upstream_gene_variant LIRI-JP 4 166139823 166139823 single base substitution T G intron_variant LIRI-JP 4 166139823 166139823 single base substitution T G upstream_gene_variant LIRI-JP 4 166139945 166139945 single base substitution A G intron_variant LIRI-JP 4 166139945 166139945 single base substitution A G upstream_gene_variant LIRI-JP 4 166139976 166139976 single base substitution T C intron_variant LIRI-JP 4 166139976 166139976 single base substitution T C upstream_gene_variant LIRI-JP 4 166140038 166140038 single base substitution A G intron_variant LIRI-JP 4 166140038 166140038 single base substitution A G upstream_gene_variant LIRI-JP 4 166140040 166140040 single base substitution T C intron_variant LIRI-JP 4 166140040 166140040 single base substitution T C upstream_gene_variant LIRI-JP 4 166140706 166140706 single base substitution C T intron_variant LIRI-JP 4 166140706 166140706 single base substitution C T upstream_gene_variant LIRI-JP 4 166141423 166141423 single base substitution A G intron_variant LIRI-JP 4 166142146 166142146 single base substitution A G intron_variant LIRI-JP 4 166142206 166142206 single base substitution G A intron_variant LIRI-JP 4 166142211 166142211 single base substitution G T intron_variant LIRI-JP 4 166144399 166144399 single base substitution G A intron_variant LIRI-JP 4 166144803 166144803 single base substitution G A intron_variant LIRI-JP 4 166145288 166145288 single base substitution A G intron_variant LIRI-JP 4 166145731 166145731 single base substitution A G intron_variant LIRI-JP 4 166148435 166148435 single base substitution G A intron_variant LIRI-JP 4 166148845 166148845 single base substitution T C intron_variant LIRI-JP 4 166148852 166148852 single base substitution G A intron_variant LIRI-JP 4 166148982 166148982 single base substitution T C intron_variant LIRI-JP 4 166149237 166149237 single base substitution G C intron_variant LIRI-JP 4 166149965 166149965 deletion of <=200bp T - 5_prime_UTR_variant LIRI-JP 4 166149965 166149965 deletion of <=200bp T - frameshift_variant N15 LIRI-JP 4 166149965 166149965 deletion of <=200bp T - frameshift_variant N53 LIRI-JP 4 166149965 166149965 deletion of <=200bp T - frameshift_variant N57 LIRI-JP 4 166149965 166149965 deletion of <=200bp T - frameshift_variant N93 LIRI-JP 4 166149965 166149965 deletion of <=200bp T - intron_variant LIRI-JP 4 166149968 166149968 single base substitution G T 5_prime_UTR_variant LIRI-JP 4 166149968 166149968 single base substitution G T intron_variant LIRI-JP 4 166149968 166149968 single base substitution G T missense_variant L16F 48G>T LIRI-JP 4 166149968 166149968 single base substitution G T missense_variant L54F 162G>T LIRI-JP 4 166149968 166149968 single base substitution G T missense_variant L58F 174G>T LIRI-JP 4 166149968 166149968 single base substitution G T missense_variant L94F 282G>T LIRI-JP 4 166150301 166150301 single base substitution T C intron_variant LIRI-JP 4 166150452 166150452 single base substitution C A intron_variant LIRI-JP 4 166150645 166150645 single base substitution A G intron_variant LIRI-JP 4 166151459 166151459 single base substitution G T intron_variant LIRI-JP 4 166151460 166151460 single base substitution G T intron_variant LIRI-JP 4 166151569 166151569 single base substitution T A intron_variant LIRI-JP 4 166151665 166151665 single base substitution T C intron_variant LIRI-JP 4 166151680 166151680 single base substitution C A intron_variant LIRI-JP 4 166153466 166153466 single base substitution C T intron_variant LIRI-JP 4 166155625 166155625 single base substitution G A intron_variant LIRI-JP 4 166155625 166155625 single base substitution G A upstream_gene_variant LIRI-JP 4 166156631 166156631 single base substitution G A intron_variant LIRI-JP 4 166156631 166156631 single base substitution G A upstream_gene_variant LIRI-JP 4 166156696 166156696 single base substitution A C intron_variant LIRI-JP 4 166156696 166156696 single base substitution A C upstream_gene_variant LIRI-JP 4 166156886 166156886 single base substitution A T intron_variant LIRI-JP 4 166156886 166156886 single base substitution A T upstream_gene_variant LIRI-JP 4 166156895 166156895 single base substitution T C intron_variant LIRI-JP 4 166156895 166156895 single base substitution T C upstream_gene_variant LIRI-JP 4 166157891 166157891 single base substitution T C intron_variant LIRI-JP 4 166157891 166157891 single base substitution T C upstream_gene_variant LIRI-JP 4 166159859 166159859 single base substitution A G intron_variant LIRI-JP 4 166159859 166159859 single base substitution A G upstream_gene_variant LIRI-JP 4 166160348 166160348 single base substitution T C downstream_gene_variant LIRI-JP 4 166160348 166160348 single base substitution T C intron_variant LIRI-JP 4 166160348 166160348 single base substitution T C upstream_gene_variant LIRI-JP 4 166161182 166161182 single base substitution A T downstream_gene_variant LIRI-JP 4 166161182 166161182 single base substitution A T intron_variant LIRI-JP 4 166161182 166161182 single base substitution A T upstream_gene_variant LIRI-JP 4 166161824 166161824 single base substitution G C downstream_gene_variant LIRI-JP 4 166161824 166161824 single base substitution G C intron_variant LIRI-JP 4 166164192 166164192 single base substitution G A downstream_gene_variant LIRI-JP 4 166164192 166164192 single base substitution G A intron_variant LIRI-JP 4 166164218 166164218 single base substitution A G downstream_gene_variant LIRI-JP 4 166164218 166164218 single base substitution A G intron_variant LIRI-JP 4 166166198 166166198 single base substitution A G intron_variant LIRI-JP 4 166167207 166167207 single base substitution A G intron_variant LIRI-JP 4 166171072 166171072 single base substitution C T intron_variant LIRI-JP 4 166171949 166171949 single base substitution C A intron_variant LIRI-JP 4 166172170 166172170 single base substitution G A intron_variant LIRI-JP 4 166172309 166172309 single base substitution T A intron_variant LIRI-JP 4 166172579 166172579 single base substitution C T intron_variant LIRI-JP 4 166173692 166173692 single base substitution C T intron_variant LIRI-JP 4 166175909 166175909 single base substitution A G intron_variant LIRI-JP 4 166177766 166177766 single base substitution A G intron_variant LIRI-JP 4 166178193 166178193 single base substitution T C intron_variant LIRI-JP 4 166178738 166178738 single base substitution G T intron_variant LIRI-JP 4 166181093 166181093 single base substitution G A intron_variant LIRI-JP 4 166181093 166181093 single base substitution G A upstream_gene_variant LIRI-JP 4 166181189 166181189 single base substitution C T intron_variant LIRI-JP 4 166181189 166181189 single base substitution C T upstream_gene_variant LIRI-JP 4 166182295 166182295 deletion of <=200bp G - intron_variant LIRI-JP 4 166182295 166182295 deletion of <=200bp G - upstream_gene_variant LIRI-JP 4 166182471 166182471 single base substitution G A intron_variant LIRI-JP 4 166182471 166182471 single base substitution G A upstream_gene_variant LIRI-JP 4 166183523 166183523 single base substitution G A intron_variant LIRI-JP 4 166183523 166183523 single base substitution G A upstream_gene_variant LIRI-JP 4 166185040 166185040 single base substitution A G downstream_gene_variant LIRI-JP 4 166185040 166185040 single base substitution A G intron_variant LIRI-JP 4 166185235 166185235 single base substitution A G downstream_gene_variant LIRI-JP 4 166185235 166185235 single base substitution A G intron_variant LIRI-JP 4 166185268 166185268 single base substitution G T downstream_gene_variant LIRI-JP 4 166185268 166185268 single base substitution G T intron_variant LIRI-JP 4 166186862 166186862 single base substitution A C downstream_gene_variant LIRI-JP 4 166186862 166186862 single base substitution A C intron_variant LIRI-JP 4 166188234 166188234 single base substitution A G downstream_gene_variant LIRI-JP 4 166188234 166188234 single base substitution A G intron_variant LIRI-JP 4 166188777 166188777 single base substitution C T downstream_gene_variant LIRI-JP 4 166188777 166188777 single base substitution C T intron_variant LIRI-JP 4 166189338 166189338 single base substitution A G downstream_gene_variant LIRI-JP 4 166189338 166189338 single base substitution A G intron_variant LIRI-JP 4 166190168 166190168 single base substitution T C intron_variant LIRI-JP 4 166190522 166190522 single base substitution A G intron_variant LIRI-JP 4 166194272 166194272 single base substitution C T intron_variant LIRI-JP 4 166195497 166195497 single base substitution C T intron_variant LIRI-JP 4 166196216 166196216 single base substitution G T intron_variant LIRI-JP 4 166197446 166197446 single base substitution C T intron_variant LIRI-JP 4 166198566 166198566 single base substitution A T intron_variant LIRI-JP 4 166202746 166202746 single base substitution C T intron_variant LIRI-JP 4 166204403 166204403 single base substitution A G intron_variant LIRI-JP 4 166206131 166206131 single base substitution A G intron_variant LIRI-JP 4 166207262 166207263 deletion of <=200bp AA - intron_variant LIRI-JP 4 166207562 166207562 single base substitution A T intron_variant LIRI-JP 4 166208099 166208099 single base substitution A G intron_variant LIRI-JP 4 166209150 166209150 single base substitution T C intron_variant LIRI-JP 4 166209760 166209760 single base substitution A G intron_variant LIRI-JP 4 166210969 166210969 single base substitution A G intron_variant LIRI-JP 4 166213589 166213589 single base substitution A G intron_variant LIRI-JP 4 166216151 166216151 single base substitution C T intron_variant LIRI-JP 4 166216801 166216801 single base substitution G T intron_variant LIRI-JP 4 166216985 166216985 single base substitution A C intron_variant LIRI-JP 4 166217110 166217110 single base substitution G C intron_variant LIRI-JP 4 166218107 166218107 single base substitution A G intron_variant LIRI-JP 4 166218702 166218702 single base substitution C G intron_variant LIRI-JP 4 166219506 166219506 single base substitution T C intron_variant LIRI-JP 4 166224093 166224093 single base substitution A G intron_variant LIRI-JP 4 166224940 166224940 single base substitution C G intron_variant LIRI-JP 4 166225816 166225816 single base substitution A G intron_variant LIRI-JP 4 166226839 166226839 single base substitution A G 3_prime_UTR_variant LIRI-JP 4 166226839 166226839 single base substitution A G exon_variant LIRI-JP 4 166226839 166226839 single base substitution A G intron_variant LIRI-JP 4 166226839 166226839 single base substitution A G missense_variant H168R 503A>G LIRI-JP 4 166226839 166226839 single base substitution A G missense_variant H237R 710A>G LIRI-JP 4 166226839 166226839 single base substitution A G missense_variant H246R 737A>G LIRI-JP 4 166226839 166226839 single base substitution A G missense_variant H334R 1001A>G LIRI-JP 4 166226839 166226839 single base substitution A G missense_variant H338R 1013A>G LIRI-JP 4 166229780 166229780 single base substitution A C intron_variant LIRI-JP 4 166231192 166231192 single base substitution A G intron_variant LIRI-JP 4 166231353 166231353 single base substitution T A intron_variant LIRI-JP 4 166231954 166231954 single base substitution C T downstream_gene_variant LIRI-JP 4 166231954 166231954 single base substitution C T intron_variant LIRI-JP 4 166232404 166232404 single base substitution A G downstream_gene_variant LIRI-JP 4 166232404 166232404 single base substitution A G intron_variant LIRI-JP 4 166233074 166233074 single base substitution T G downstream_gene_variant LIRI-JP 4 166233074 166233074 single base substitution T G intron_variant LIRI-JP 4 166234881 166234881 single base substitution G T downstream_gene_variant LIRI-JP 4 166234881 166234881 single base substitution G T intron_variant LIRI-JP 4 166236839 166236839 single base substitution A G downstream_gene_variant LIRI-JP 4 166236839 166236839 single base substitution A G intron_variant LIRI-JP 4 166240084 166240084 single base substitution A G intron_variant LIRI-JP 4 166240798 166240798 single base substitution A T intron_variant LIRI-JP 4 166243167 166243167 single base substitution T G intron_variant LIRI-JP 4 166244423 166244423 single base substitution C G downstream_gene_variant LIRI-JP 4 166246351 166246351 single base substitution A G downstream_gene_variant LUSC-KR 4 166132145 166132145 single base substitution G T intron_variant LUSC-KR 4 166134742 166134742 single base substitution T C intron_variant LUSC-KR 4 166136852 166136852 single base substitution G C intron_variant LUSC-KR 4 166136852 166136852 single base substitution G C upstream_gene_variant LUSC-KR 4 166140038 166140038 single base substitution A G intron_variant LUSC-KR 4 166140038 166140038 single base substitution A G upstream_gene_variant LUSC-KR 4 166140040 166140040 single base substitution T C intron_variant LUSC-KR 4 166140040 166140040 single base substitution T C upstream_gene_variant LUSC-KR 4 166140164 166140164 single base substitution C T intron_variant LUSC-KR 4 166140164 166140164 single base substitution C T upstream_gene_variant LUSC-KR 4 166140265 166140265 single base substitution T A intron_variant LUSC-KR 4 166140265 166140265 single base substitution T A upstream_gene_variant LUSC-KR 4 166140283 166140283 single base substitution T C intron_variant LUSC-KR 4 166140283 166140283 single base substitution T C upstream_gene_variant LUSC-KR 4 166140828 166140828 single base substitution G A 5_prime_UTR_variant LUSC-KR 4 166140828 166140828 single base substitution G A intron_variant LUSC-KR 4 166140828 166140828 single base substitution G A upstream_gene_variant LUSC-KR 4 166141086 166141086 single base substitution A G splice_region_variant LUSC-KR 4 166141086 166141086 single base substitution A G upstream_gene_variant LUSC-KR 4 166141263 166141263 single base substitution C T intron_variant LUSC-KR 4 166142116 166142116 single base substitution G C intron_variant LUSC-KR 4 166142123 166142123 single base substitution G C intron_variant LUSC-KR 4 166144958 166144958 single base substitution A G intron_variant LUSC-KR 4 166145153 166145153 single base substitution G A intron_variant LUSC-KR 4 166145153 166145153 single base substitution G A synonymous_variant P72P 216G>A LUSC-KR 4 166148845 166148845 single base substitution T C intron_variant LUSC-KR 4 166150086 166150086 single base substitution A G intron_variant LUSC-KR 4 166150626 166150626 single base substitution C T intron_variant LUSC-KR 4 166150653 166150653 single base substitution G A intron_variant LUSC-KR 4 166150716 166150716 single base substitution A G intron_variant LUSC-KR 4 166150927 166150927 single base substitution C G intron_variant LUSC-KR 4 166151284 166151284 single base substitution C G intron_variant LUSC-KR 4 166151569 166151569 single base substitution T A intron_variant LUSC-KR 4 166151665 166151665 single base substitution T C intron_variant LUSC-KR 4 166151890 166151890 single base substitution G A intron_variant LUSC-KR 4 166151913 166151913 single base substitution T C intron_variant LUSC-KR 4 166152878 166152878 single base substitution T C intron_variant LUSC-KR 4 166154457 166154457 single base substitution C T intron_variant LUSC-KR 4 166154458 166154458 single base substitution G A intron_variant LUSC-KR 4 166155794 166155794 single base substitution A G intron_variant LUSC-KR 4 166155794 166155794 single base substitution A G upstream_gene_variant LUSC-KR 4 166157218 166157218 single base substitution T G intron_variant LUSC-KR 4 166157218 166157218 single base substitution T G upstream_gene_variant LUSC-KR 4 166159583 166159583 single base substitution C T intron_variant LUSC-KR 4 166159583 166159583 single base substitution C T upstream_gene_variant LUSC-KR 4 166159863 166159863 single base substitution A G intron_variant LUSC-KR 4 166159863 166159863 single base substitution A G upstream_gene_variant LUSC-KR 4 166160382 166160382 single base substitution T A downstream_gene_variant LUSC-KR 4 166160382 166160382 single base substitution T A intron_variant LUSC-KR 4 166160382 166160382 single base substitution T A upstream_gene_variant LUSC-KR 4 166160434 166160434 single base substitution G T downstream_gene_variant LUSC-KR 4 166160434 166160434 single base substitution G T intron_variant LUSC-KR 4 166160434 166160434 single base substitution G T upstream_gene_variant LUSC-KR 4 166162174 166162174 single base substitution A G downstream_gene_variant LUSC-KR 4 166162174 166162174 single base substitution A G intron_variant LUSC-KR 4 166162348 166162348 single base substitution T C downstream_gene_variant LUSC-KR 4 166162348 166162348 single base substitution T C intron_variant LUSC-KR 4 166163038 166163038 single base substitution T G downstream_gene_variant LUSC-KR 4 166163038 166163038 single base substitution T G intron_variant LUSC-KR 4 166163275 166163275 single base substitution A C downstream_gene_variant LUSC-KR 4 166163275 166163275 single base substitution A C intron_variant LUSC-KR 4 166164690 166164690 single base substitution G A downstream_gene_variant LUSC-KR 4 166164690 166164690 single base substitution G A intron_variant LUSC-KR 4 166165013 166165013 single base substitution A G intron_variant LUSC-KR 4 166165674 166165674 single base substitution T A intron_variant LUSC-KR 4 166165724 166165724 single base substitution C T intron_variant LUSC-KR 4 166165752 166165752 single base substitution A T intron_variant LUSC-KR 4 166167704 166167704 single base substitution T C intron_variant LUSC-KR 4 166171307 166171307 single base substitution G T intron_variant LUSC-KR 4 166172465 166172465 single base substitution T G intron_variant LUSC-KR 4 166174237 166174237 single base substitution G C intron_variant LUSC-KR 4 166175705 166175705 single base substitution C G intron_variant LUSC-KR 4 166175733 166175733 single base substitution G A intron_variant LUSC-KR 4 166175913 166175913 single base substitution A C intron_variant LUSC-KR 4 166180514 166180514 single base substitution G T intron_variant LUSC-KR 4 166180514 166180514 single base substitution G T upstream_gene_variant LUSC-KR 4 166181017 166181017 single base substitution G T intron_variant LUSC-KR 4 166181017 166181017 single base substitution G T upstream_gene_variant LUSC-KR 4 166181729 166181729 single base substitution T G intron_variant LUSC-KR 4 166181729 166181729 single base substitution T G upstream_gene_variant LUSC-KR 4 166182304 166182304 single base substitution A G intron_variant LUSC-KR 4 166182304 166182304 single base substitution A G upstream_gene_variant LUSC-KR 4 166182430 166182430 single base substitution G A intron_variant LUSC-KR 4 166182430 166182430 single base substitution G A upstream_gene_variant LUSC-KR 4 166182466 166182466 single base substitution G A intron_variant LUSC-KR 4 166182466 166182466 single base substitution G A upstream_gene_variant LUSC-KR 4 166189374 166189374 single base substitution G A downstream_gene_variant LUSC-KR 4 166189374 166189374 single base substitution G A intron_variant LUSC-KR 4 166193549 166193549 single base substitution C T intron_variant LUSC-KR 4 166193854 166193854 single base substitution C G intron_variant LUSC-KR 4 166194947 166194947 single base substitution G A intron_variant LUSC-KR 4 166198794 166198794 single base substitution G C intron_variant LUSC-KR 4 166198794 166198794 single base substitution G T intron_variant LUSC-KR 4 166198807 166198807 single base substitution C T intron_variant LUSC-KR 4 166199032 166199032 single base substitution A C intron_variant LUSC-KR 4 166199165 166199165 single base substitution C T intron_variant LUSC-KR 4 166199237 166199237 single base substitution C T intron_variant LUSC-KR 4 166205266 166205266 single base substitution G T intron_variant LUSC-KR 4 166206119 166206119 single base substitution C T intron_variant LUSC-KR 4 166209925 166209925 single base substitution G A intron_variant LUSC-KR 4 166214384 166214384 single base substitution G T intron_variant LUSC-KR 4 166219651 166219651 single base substitution C T intron_variant LUSC-KR 4 166227982 166227982 single base substitution A G intron_variant LUSC-KR 4 166236081 166236081 single base substitution C A downstream_gene_variant LUSC-KR 4 166236081 166236081 single base substitution C A intron_variant LUSC-KR 4 166242794 166242794 single base substitution T C intron_variant LUSC-KR 4 166248127 166248127 single base substitution G T downstream_gene_variant LUSC-US 4 166215563 166215563 single base substitution C G 3_prime_UTR_variant LUSC-US 4 166215563 166215563 single base substitution C G exon_variant LUSC-US 4 166215563 166215563 single base substitution C G missense_variant I102M 306C>G LUSC-US 4 166215563 166215563 single base substitution C G missense_variant I111M 333C>G LUSC-US 4 166215563 166215563 single base substitution C G missense_variant I199M 597C>G LUSC-US 4 166215563 166215563 single base substitution C G missense_variant I203M 609C>G LUSC-US 4 166215563 166215563 single base substitution C G missense_variant I33M 99C>G MALY-DE 4 166124643 166124643 single base substitution A G upstream_gene_variant MALY-DE 4 166130527 166130527 single base substitution C T intron_variant MALY-DE 4 166130527 166130527 single base substitution C T upstream_gene_variant MALY-DE 4 166135106 166135106 single base substitution T G intron_variant MALY-DE 4 166140257 166140257 insertion of <=200bp - G intron_variant MALY-DE 4 166140257 166140257 insertion of <=200bp - G upstream_gene_variant MALY-DE 4 166152265 166152265 insertion of <=200bp - GTT intron_variant MALY-DE 4 166156151 166156151 insertion of <=200bp - A intron_variant MALY-DE 4 166156151 166156151 insertion of <=200bp - A upstream_gene_variant MALY-DE 4 166162043 166162043 single base substitution A G downstream_gene_variant MALY-DE 4 166162043 166162043 single base substitution A G intron_variant MALY-DE 4 166184302 166184302 single base substitution G A intron_variant MALY-DE 4 166184302 166184302 single base substitution G A upstream_gene_variant MALY-DE 4 166208079 166208079 single base substitution G C intron_variant MALY-DE 4 166209975 166209975 single base substitution G T intron_variant MALY-DE 4 166217865 166217865 single base substitution A G intron_variant MALY-DE 4 166227726 166227726 single base substitution A T intron_variant MALY-DE 4 166231811 166231811 single base substitution C T 3_prime_UTR_variant MALY-DE 4 166231811 166231811 single base substitution C T exon_variant MALY-DE 4 166231811 166231811 single base substitution C T synonymous_variant S216S 648C>T MALY-DE 4 166231811 166231811 single base substitution C T synonymous_variant S285S 855C>T MALY-DE 4 166231811 166231811 single base substitution C T synonymous_variant S294S 882C>T MALY-DE 4 166231811 166231811 single base substitution C T synonymous_variant S382S 1146C>T MALY-DE 4 166231811 166231811 single base substitution C T synonymous_variant S386S 1158C>T MALY-DE 4 166235289 166235289 single base substitution C A 3_prime_UTR_variant MALY-DE 4 166235289 166235289 single base substitution C A downstream_gene_variant MALY-DE 4 166235289 166235289 single base substitution C A exon_variant MALY-DE 4 166235289 166235289 single base substitution C A missense_variant A361E 1082C>A MALY-DE 4 166235289 166235289 single base substitution C A missense_variant A430E 1289C>A MALY-DE 4 166235289 166235289 single base substitution C A missense_variant A439E 1316C>A MALY-DE 4 166235289 166235289 single base substitution C A missense_variant A527E 1580C>A MALY-DE 4 166235289 166235289 single base substitution C A missense_variant A531E 1592C>A MALY-DE 4 166240277 166240277 single base substitution A C intron_variant MALY-DE 4 166242919 166242919 single base substitution G T intron_variant MALY-DE 4 166243382 166243382 single base substitution A T 3_prime_UTR_variant MALY-DE 4 166243382 166243382 single base substitution A T exon_variant MALY-DE 4 166248514 166248514 single base substitution G A downstream_gene_variant MELA-AU 4 166123804 166123804 single base substitution G A upstream_gene_variant MELA-AU 4 166123813 166123813 single base substitution G T upstream_gene_variant MELA-AU 4 166124056 166124056 single base substitution G A upstream_gene_variant MELA-AU 4 166124057 166124057 single base substitution G A upstream_gene_variant MELA-AU 4 166124587 166124587 single base substitution C T upstream_gene_variant MELA-AU 4 166124628 166124629 multiple base substitution (>=2bp and <=200bp) AG GA upstream_gene_variant MELA-AU 4 166125102 166125102 single base substitution G A upstream_gene_variant MELA-AU 4 166125277 166125277 single base substitution G A upstream_gene_variant MELA-AU 4 166125467 166125467 single base substitution T A upstream_gene_variant MELA-AU 4 166125569 166125569 single base substitution G A upstream_gene_variant MELA-AU 4 166125601 166125601 single base substitution G A upstream_gene_variant MELA-AU 4 166126229 166126229 single base substitution T A upstream_gene_variant MELA-AU 4 166129327 166129328 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 4 166129327 166129328 multiple base substitution (>=2bp and <=200bp) GG TA upstream_gene_variant MELA-AU 4 166130265 166130265 single base substitution C T intron_variant MELA-AU 4 166130265 166130265 single base substitution C T upstream_gene_variant MELA-AU 4 166130336 166130336 single base substitution A T intron_variant MELA-AU 4 166130336 166130336 single base substitution A T upstream_gene_variant MELA-AU 4 166131095 166131096 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 4 166131095 166131096 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 166131095 166131096 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 166133195 166133195 single base substitution G A intron_variant MELA-AU 4 166133560 166133560 single base substitution C T intron_variant MELA-AU 4 166133981 166133981 single base substitution C T intron_variant MELA-AU 4 166134227 166134227 single base substitution G A intron_variant MELA-AU 4 166134263 166134263 single base substitution C T intron_variant MELA-AU 4 166134668 166134668 single base substitution C T intron_variant MELA-AU 4 166134773 166134773 single base substitution C T intron_variant MELA-AU 4 166134839 166134839 single base substitution C T intron_variant MELA-AU 4 166135182 166135182 single base substitution C T intron_variant MELA-AU 4 166135313 166135313 single base substitution C T intron_variant MELA-AU 4 166135314 166135314 single base substitution C T intron_variant MELA-AU 4 166137644 166137644 single base substitution A C intron_variant MELA-AU 4 166137644 166137644 single base substitution A C upstream_gene_variant MELA-AU 4 166137913 166137913 single base substitution C T intron_variant MELA-AU 4 166137913 166137913 single base substitution C T upstream_gene_variant MELA-AU 4 166138378 166138378 single base substitution A C intron_variant MELA-AU 4 166138378 166138378 single base substitution A C upstream_gene_variant MELA-AU 4 166139661 166139661 single base substitution C T intron_variant MELA-AU 4 166139661 166139661 single base substitution C T upstream_gene_variant MELA-AU 4 166139712 166139712 single base substitution C T intron_variant MELA-AU 4 166139712 166139712 single base substitution C T upstream_gene_variant MELA-AU 4 166140222 166140222 single base substitution C T intron_variant MELA-AU 4 166140222 166140222 single base substitution C T upstream_gene_variant MELA-AU 4 166140387 166140387 single base substitution G A intron_variant MELA-AU 4 166140387 166140387 single base substitution G A upstream_gene_variant MELA-AU 4 166140433 166140433 single base substitution C T intron_variant MELA-AU 4 166140433 166140433 single base substitution C T upstream_gene_variant MELA-AU 4 166140593 166140593 single base substitution C T intron_variant MELA-AU 4 166140593 166140593 single base substitution C T upstream_gene_variant MELA-AU 4 166141003 166141003 single base substitution G C intron_variant MELA-AU 4 166141003 166141003 single base substitution G C upstream_gene_variant MELA-AU 4 166141051 166141051 single base substitution C T intron_variant MELA-AU 4 166141051 166141051 single base substitution C T upstream_gene_variant MELA-AU 4 166141760 166141760 single base substitution C T intron_variant MELA-AU 4 166142116 166142116 single base substitution G C intron_variant MELA-AU 4 166142123 166142123 single base substitution G C intron_variant MELA-AU 4 166142226 166142226 single base substitution C T intron_variant MELA-AU 4 166142722 166142722 single base substitution C T intron_variant MELA-AU 4 166143401 166143401 single base substitution G A intron_variant MELA-AU 4 166143897 166143897 single base substitution C T intron_variant MELA-AU 4 166144609 166144609 single base substitution T G intron_variant MELA-AU 4 166144695 166144695 single base substitution C T intron_variant MELA-AU 4 166145086 166145086 single base substitution C T intron_variant MELA-AU 4 166145086 166145086 single base substitution C T splice_region_variant MELA-AU 4 166145097 166145097 single base substitution C T intron_variant MELA-AU 4 166145097 166145097 single base substitution C T missense_variant H54Y 160C>T MELA-AU 4 166145704 166145704 single base substitution C T intron_variant MELA-AU 4 166147009 166147009 single base substitution G A intron_variant MELA-AU 4 166147346 166147346 single base substitution G A intron_variant MELA-AU 4 166147605 166147605 single base substitution C T intron_variant MELA-AU 4 166148880 166148880 single base substitution C A intron_variant MELA-AU 4 166149827 166149827 single base substitution C T intron_variant MELA-AU 4 166150584 166150584 single base substitution C T intron_variant MELA-AU 4 166150838 166150838 single base substitution C T intron_variant MELA-AU 4 166151192 166151192 single base substitution T A intron_variant MELA-AU 4 166151284 166151284 single base substitution C T intron_variant MELA-AU 4 166151483 166151483 single base substitution T C intron_variant MELA-AU 4 166151502 166151502 single base substitution C T intron_variant MELA-AU 4 166151964 166151964 single base substitution C T intron_variant MELA-AU 4 166152355 166152355 single base substitution C T intron_variant MELA-AU 4 166152363 166152363 single base substitution T C intron_variant MELA-AU 4 166153414 166153414 single base substitution A T intron_variant MELA-AU 4 166153624 166153624 single base substitution T A intron_variant MELA-AU 4 166153962 166153962 single base substitution C T intron_variant MELA-AU 4 166155064 166155065 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 166155064 166155065 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 4 166155313 166155313 deletion of <=200bp G - intron_variant MELA-AU 4 166155313 166155313 deletion of <=200bp G - upstream_gene_variant MELA-AU 4 166155876 166155876 single base substitution C T intron_variant MELA-AU 4 166155876 166155876 single base substitution C T upstream_gene_variant MELA-AU 4 166156594 166156594 single base substitution C T intron_variant MELA-AU 4 166156594 166156594 single base substitution C T upstream_gene_variant MELA-AU 4 166156977 166156977 single base substitution C T intron_variant MELA-AU 4 166156977 166156977 single base substitution C T upstream_gene_variant MELA-AU 4 166157686 166157686 single base substitution A G intron_variant MELA-AU 4 166157686 166157686 single base substitution A G upstream_gene_variant MELA-AU 4 166157810 166157810 single base substitution C A intron_variant MELA-AU 4 166157810 166157810 single base substitution C A upstream_gene_variant MELA-AU 4 166159671 166159671 single base substitution C T intron_variant MELA-AU 4 166159671 166159671 single base substitution C T upstream_gene_variant MELA-AU 4 166159702 166159702 single base substitution T G intron_variant MELA-AU 4 166159702 166159702 single base substitution T G upstream_gene_variant MELA-AU 4 166159762 166159762 single base substitution G A intron_variant MELA-AU 4 166159762 166159762 single base substitution G A upstream_gene_variant MELA-AU 4 166159916 166159916 single base substitution C T intron_variant MELA-AU 4 166159916 166159916 single base substitution C T upstream_gene_variant MELA-AU 4 166160293 166160293 single base substitution C T downstream_gene_variant MELA-AU 4 166160293 166160293 single base substitution C T intron_variant MELA-AU 4 166160293 166160293 single base substitution C T upstream_gene_variant MELA-AU 4 166160404 166160404 single base substitution T C downstream_gene_variant MELA-AU 4 166160404 166160404 single base substitution T C intron_variant MELA-AU 4 166160404 166160404 single base substitution T C upstream_gene_variant MELA-AU 4 166160470 166160470 single base substitution T C downstream_gene_variant MELA-AU 4 166160470 166160470 single base substitution T C intron_variant MELA-AU 4 166160470 166160470 single base substitution T C upstream_gene_variant MELA-AU 4 166161446 166161446 single base substitution C T downstream_gene_variant MELA-AU 4 166161446 166161446 single base substitution C T intron_variant MELA-AU 4 166161446 166161446 single base substitution C T upstream_gene_variant MELA-AU 4 166161606 166161606 single base substitution C T 5_prime_UTR_variant MELA-AU 4 166161606 166161606 single base substitution C T downstream_gene_variant MELA-AU 4 166161606 166161606 single base substitution C T intron_variant MELA-AU 4 166161621 166161621 single base substitution G A downstream_gene_variant MELA-AU 4 166161621 166161621 single base substitution G A intron_variant MELA-AU 4 166162144 166162144 single base substitution T G downstream_gene_variant MELA-AU 4 166162144 166162144 single base substitution T G intron_variant MELA-AU 4 166162942 166162942 single base substitution G A downstream_gene_variant MELA-AU 4 166162942 166162942 single base substitution G A intron_variant MELA-AU 4 166163415 166163415 single base substitution A T downstream_gene_variant MELA-AU 4 166163415 166163415 single base substitution A T intron_variant MELA-AU 4 166164061 166164061 single base substitution T A downstream_gene_variant MELA-AU 4 166164061 166164061 single base substitution T A intron_variant MELA-AU 4 166165204 166165204 single base substitution C T intron_variant MELA-AU 4 166165209 166165210 multiple base substitution (>=2bp and <=200bp) CT GA intron_variant MELA-AU 4 166165333 166165333 single base substitution C T intron_variant MELA-AU 4 166166010 166166010 single base substitution C T intron_variant MELA-AU 4 166166193 166166193 single base substitution C T intron_variant MELA-AU 4 166166354 166166354 single base substitution C T intron_variant MELA-AU 4 166167049 166167049 single base substitution C T intron_variant MELA-AU 4 166167995 166167995 single base substitution G A intron_variant MELA-AU 4 166168116 166168116 single base substitution G A intron_variant MELA-AU 4 166168743 166168743 single base substitution C T intron_variant MELA-AU 4 166169260 166169260 single base substitution C T intron_variant MELA-AU 4 166169544 166169544 single base substitution C T intron_variant MELA-AU 4 166169611 166169611 single base substitution A T intron_variant MELA-AU 4 166170369 166170369 single base substitution G A intron_variant MELA-AU 4 166170738 166170738 single base substitution T C intron_variant MELA-AU 4 166170756 166170756 single base substitution G A intron_variant MELA-AU 4 166170936 166170936 single base substitution C T intron_variant MELA-AU 4 166171106 166171106 single base substitution C T intron_variant MELA-AU 4 166171230 166171230 single base substitution C T intron_variant MELA-AU 4 166171330 166171330 single base substitution T C intron_variant MELA-AU 4 166171709 166171709 single base substitution C T intron_variant MELA-AU 4 166171741 166171741 single base substitution C T intron_variant MELA-AU 4 166172026 166172026 single base substitution C T intron_variant MELA-AU 4 166172145 166172145 single base substitution T C intron_variant MELA-AU 4 166172166 166172166 single base substitution C G intron_variant MELA-AU 4 166172188 166172188 single base substitution C A intron_variant MELA-AU 4 166173166 166173166 single base substitution T C intron_variant MELA-AU 4 166173209 166173209 single base substitution T A intron_variant MELA-AU 4 166173907 166173907 single base substitution A T intron_variant MELA-AU 4 166174086 166174086 single base substitution C T intron_variant MELA-AU 4 166174334 166174334 single base substitution C T intron_variant MELA-AU 4 166174572 166174572 single base substitution G A intron_variant MELA-AU 4 166174712 166174712 single base substitution A C intron_variant MELA-AU 4 166174746 166174746 single base substitution T G intron_variant MELA-AU 4 166174896 166174896 single base substitution C T intron_variant MELA-AU 4 166175920 166175920 single base substitution T A intron_variant MELA-AU 4 166175952 166175952 single base substitution C T intron_variant MELA-AU 4 166176719 166176719 single base substitution G A intron_variant MELA-AU 4 166177120 166177120 single base substitution C T intron_variant MELA-AU 4 166177739 166177739 single base substitution C T intron_variant MELA-AU 4 166178574 166178574 single base substitution C T intron_variant MELA-AU 4 166179346 166179346 single base substitution T G intron_variant MELA-AU 4 166180091 166180091 single base substitution A C intron_variant MELA-AU 4 166180091 166180091 single base substitution A C upstream_gene_variant MELA-AU 4 166180481 166180481 single base substitution C T intron_variant MELA-AU 4 166180481 166180481 single base substitution C T upstream_gene_variant MELA-AU 4 166181153 166181153 single base substitution A G intron_variant MELA-AU 4 166181153 166181153 single base substitution A G upstream_gene_variant MELA-AU 4 166181587 166181587 single base substitution C T intron_variant MELA-AU 4 166181587 166181587 single base substitution C T upstream_gene_variant MELA-AU 4 166181828 166181828 single base substitution C T intron_variant MELA-AU 4 166181828 166181828 single base substitution C T upstream_gene_variant MELA-AU 4 166182492 166182492 single base substitution A T intron_variant MELA-AU 4 166182492 166182492 single base substitution A T upstream_gene_variant MELA-AU 4 166183114 166183114 single base substitution C T intron_variant MELA-AU 4 166183114 166183114 single base substitution C T upstream_gene_variant MELA-AU 4 166183200 166183200 single base substitution C T intron_variant MELA-AU 4 166183200 166183200 single base substitution C T upstream_gene_variant MELA-AU 4 166183974 166183974 single base substitution T A intron_variant MELA-AU 4 166183974 166183974 single base substitution T A upstream_gene_variant MELA-AU 4 166185333 166185333 single base substitution C T downstream_gene_variant MELA-AU 4 166185333 166185333 single base substitution C T intron_variant MELA-AU 4 166185335 166185335 single base substitution T C downstream_gene_variant MELA-AU 4 166185335 166185335 single base substitution T C intron_variant MELA-AU 4 166185511 166185511 single base substitution C T downstream_gene_variant MELA-AU 4 166185511 166185511 single base substitution C T intron_variant MELA-AU 4 166185585 166185585 single base substitution T G downstream_gene_variant MELA-AU 4 166185585 166185585 single base substitution T G intron_variant MELA-AU 4 166185684 166185684 single base substitution T C downstream_gene_variant MELA-AU 4 166185684 166185684 single base substitution T C intron_variant MELA-AU 4 166185759 166185759 single base substitution C T downstream_gene_variant MELA-AU 4 166185759 166185759 single base substitution C T intron_variant MELA-AU 4 166186127 166186127 single base substitution G A downstream_gene_variant MELA-AU 4 166186127 166186127 single base substitution G A intron_variant MELA-AU 4 166186461 166186461 single base substitution C T downstream_gene_variant MELA-AU 4 166186461 166186461 single base substitution C T intron_variant MELA-AU 4 166186663 166186663 single base substitution C T downstream_gene_variant MELA-AU 4 166186663 166186663 single base substitution C T intron_variant MELA-AU 4 166186801 166186801 single base substitution G A downstream_gene_variant MELA-AU 4 166186801 166186801 single base substitution G A intron_variant MELA-AU 4 166186902 166186902 single base substitution C T downstream_gene_variant MELA-AU 4 166186902 166186902 single base substitution C T intron_variant MELA-AU 4 166186941 166186941 single base substitution G A downstream_gene_variant MELA-AU 4 166186941 166186941 single base substitution G A intron_variant MELA-AU 4 166187057 166187057 single base substitution C T downstream_gene_variant MELA-AU 4 166187057 166187057 single base substitution C T intron_variant MELA-AU 4 166187464 166187464 single base substitution C T downstream_gene_variant MELA-AU 4 166187464 166187464 single base substitution C T intron_variant MELA-AU 4 166187752 166187752 single base substitution T G downstream_gene_variant MELA-AU 4 166187752 166187752 single base substitution T G intron_variant MELA-AU 4 166187929 166187929 single base substitution T C downstream_gene_variant MELA-AU 4 166187929 166187929 single base substitution T C intron_variant MELA-AU 4 166188191 166188191 single base substitution C T downstream_gene_variant MELA-AU 4 166188191 166188191 single base substitution C T intron_variant MELA-AU 4 166188574 166188574 single base substitution C T downstream_gene_variant MELA-AU 4 166188574 166188574 single base substitution C T intron_variant MELA-AU 4 166188722 166188722 single base substitution C T downstream_gene_variant MELA-AU 4 166188722 166188722 single base substitution C T intron_variant MELA-AU 4 166188917 166188917 single base substitution A G downstream_gene_variant MELA-AU 4 166188917 166188917 single base substitution A G intron_variant MELA-AU 4 166189174 166189174 single base substitution T C downstream_gene_variant MELA-AU 4 166189174 166189174 single base substitution T C intron_variant MELA-AU 4 166189358 166189358 single base substitution C T downstream_gene_variant MELA-AU 4 166189358 166189358 single base substitution C T intron_variant MELA-AU 4 166189669 166189669 single base substitution C T intron_variant MELA-AU 4 166190052 166190052 single base substitution A T intron_variant MELA-AU 4 166190332 166190333 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 166190334 166190334 single base substitution C T intron_variant MELA-AU 4 166190610 166190611 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 166190611 166190611 single base substitution C T intron_variant MELA-AU 4 166190634 166190634 single base substitution C T intron_variant MELA-AU 4 166190904 166190904 single base substitution C T intron_variant MELA-AU 4 166191070 166191070 single base substitution T C intron_variant MELA-AU 4 166191080 166191080 single base substitution C T intron_variant MELA-AU 4 166191531 166191531 single base substitution G A intron_variant MELA-AU 4 166191544 166191544 single base substitution A G intron_variant MELA-AU 4 166191958 166191958 single base substitution C T intron_variant MELA-AU 4 166192059 166192059 single base substitution T A intron_variant MELA-AU 4 166192499 166192500 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 4 166192614 166192614 single base substitution C T intron_variant MELA-AU 4 166192656 166192656 single base substitution A G intron_variant MELA-AU 4 166192830 166192830 single base substitution C T intron_variant MELA-AU 4 166192836 166192836 single base substitution T C intron_variant MELA-AU 4 166193240 166193240 single base substitution C T intron_variant MELA-AU 4 166193274 166193274 single base substitution T C intron_variant MELA-AU 4 166193353 166193353 single base substitution C T intron_variant MELA-AU 4 166193959 166193959 single base substitution C T intron_variant MELA-AU 4 166194320 166194320 single base substitution C T intron_variant MELA-AU 4 166194321 166194321 single base substitution C T intron_variant MELA-AU 4 166194463 166194463 single base substitution C T intron_variant MELA-AU 4 166194496 166194496 single base substitution C T intron_variant MELA-AU 4 166196732 166196732 single base substitution C T intron_variant MELA-AU 4 166196757 166196757 single base substitution T A intron_variant MELA-AU 4 166196945 166196945 single base substitution C T intron_variant MELA-AU 4 166197239 166197239 single base substitution C T intron_variant MELA-AU 4 166197994 166197994 single base substitution C T intron_variant MELA-AU 4 166198208 166198208 single base substitution G A intron_variant MELA-AU 4 166199159 166199159 single base substitution T C intron_variant MELA-AU 4 166199177 166199177 single base substitution C T intron_variant MELA-AU 4 166200024 166200024 single base substitution C T intron_variant MELA-AU 4 166201188 166201188 single base substitution T C intron_variant MELA-AU 4 166201196 166201196 single base substitution C T intron_variant MELA-AU 4 166201653 166201653 single base substitution T A intron_variant MELA-AU 4 166201975 166201975 single base substitution T C intron_variant MELA-AU 4 166202240 166202240 single base substitution C T intron_variant MELA-AU 4 166202584 166202584 single base substitution C T intron_variant MELA-AU 4 166203119 166203119 single base substitution G A intron_variant MELA-AU 4 166203697 166203697 single base substitution G A intron_variant MELA-AU 4 166203752 166203752 single base substitution C T intron_variant MELA-AU 4 166204338 166204338 single base substitution C T intron_variant MELA-AU 4 166204371 166204371 single base substitution C G intron_variant MELA-AU 4 166204581 166204581 single base substitution G A intron_variant MELA-AU 4 166205657 166205657 single base substitution C T intron_variant MELA-AU 4 166206668 166206668 single base substitution C T intron_variant MELA-AU 4 166206753 166206753 single base substitution T G intron_variant MELA-AU 4 166207005 166207005 single base substitution C T intron_variant MELA-AU 4 166207085 166207085 single base substitution C T intron_variant MELA-AU 4 166207352 166207360 deletion of <=200bp GTAGTAATT - intron_variant MELA-AU 4 166207708 166207708 single base substitution C T intron_variant MELA-AU 4 166207831 166207831 single base substitution A G intron_variant MELA-AU 4 166208175 166208175 single base substitution T C intron_variant MELA-AU 4 166208346 166208346 single base substitution C T intron_variant MELA-AU 4 166208394 166208394 single base substitution C T intron_variant MELA-AU 4 166208903 166208903 single base substitution G A intron_variant MELA-AU 4 166209175 166209175 single base substitution C T intron_variant MELA-AU 4 166209337 166209337 single base substitution G T intron_variant MELA-AU 4 166209342 166209342 single base substitution T G intron_variant MELA-AU 4 166209615 166209615 single base substitution A C intron_variant MELA-AU 4 166209934 166209935 multiple base substitution (>=2bp and <=200bp) TC CT intron_variant MELA-AU 4 166211695 166211695 single base substitution T C intron_variant MELA-AU 4 166211836 166211836 single base substitution C T intron_variant MELA-AU 4 166211985 166211985 single base substitution G A intron_variant MELA-AU 4 166212035 166212035 single base substitution C G intron_variant MELA-AU 4 166212081 166212081 single base substitution A C intron_variant MELA-AU 4 166212091 166212091 single base substitution C T intron_variant MELA-AU 4 166212129 166212129 single base substitution C T intron_variant MELA-AU 4 166213277 166213277 single base substitution A G intron_variant MELA-AU 4 166213441 166213441 single base substitution A G intron_variant MELA-AU 4 166213575 166213575 single base substitution C T intron_variant MELA-AU 4 166213746 166213746 single base substitution G A intron_variant MELA-AU 4 166213875 166213875 single base substitution C T intron_variant MELA-AU 4 166213964 166213964 single base substitution T C intron_variant MELA-AU 4 166214132 166214132 single base substitution C T intron_variant MELA-AU 4 166214334 166214334 single base substitution C T intron_variant MELA-AU 4 166214470 166214470 single base substitution C A intron_variant MELA-AU 4 166215778 166215778 single base substitution A G intron_variant MELA-AU 4 166215888 166215888 single base substitution C T intron_variant MELA-AU 4 166216260 166216260 single base substitution T A intron_variant MELA-AU 4 166216860 166216860 single base substitution G A intron_variant MELA-AU 4 166216869 166216869 single base substitution G A intron_variant MELA-AU 4 166217217 166217217 single base substitution C T intron_variant MELA-AU 4 166217459 166217459 single base substitution C T intron_variant MELA-AU 4 166218123 166218123 single base substitution C T intron_variant MELA-AU 4 166219511 166219511 single base substitution C T intron_variant MELA-AU 4 166219545 166219545 single base substitution C T intron_variant MELA-AU 4 166219597 166219597 single base substitution T G intron_variant MELA-AU 4 166219599 166219599 single base substitution C T intron_variant MELA-AU 4 166219689 166219689 single base substitution C T intron_variant MELA-AU 4 166220094 166220094 single base substitution C T intron_variant MELA-AU 4 166220240 166220240 single base substitution C T intron_variant MELA-AU 4 166220521 166220521 single base substitution A G intron_variant MELA-AU 4 166221242 166221242 single base substitution A G intron_variant MELA-AU 4 166221481 166221481 single base substitution G A intron_variant MELA-AU 4 166221519 166221519 single base substitution C T intron_variant MELA-AU 4 166221646 166221646 single base substitution C T intron_variant MELA-AU 4 166221658 166221658 single base substitution G A intron_variant MELA-AU 4 166222193 166222193 single base substitution C T intron_variant MELA-AU 4 166224452 166224452 single base substitution A G intron_variant MELA-AU 4 166224837 166224837 single base substitution C T intron_variant MELA-AU 4 166224911 166224911 single base substitution C T intron_variant MELA-AU 4 166225042 166225042 single base substitution T C intron_variant MELA-AU 4 166225056 166225056 single base substitution C T intron_variant MELA-AU 4 166225964 166225964 single base substitution C T intron_variant MELA-AU 4 166226072 166226072 single base substitution A T intron_variant MELA-AU 4 166226238 166226238 single base substitution C T intron_variant MELA-AU 4 166226325 166226325 single base substitution C T intron_variant MELA-AU 4 166226330 166226330 single base substitution C T intron_variant MELA-AU 4 166226708 166226708 single base substitution C T intron_variant MELA-AU 4 166227018 166227018 single base substitution G A intron_variant MELA-AU 4 166227295 166227295 single base substitution C T intron_variant MELA-AU 4 166227371 166227371 single base substitution C T intron_variant MELA-AU 4 166227582 166227582 single base substitution T G intron_variant MELA-AU 4 166228665 166228665 single base substitution C T intron_variant MELA-AU 4 166229077 166229077 single base substitution C A intron_variant MELA-AU 4 166229192 166229192 single base substitution T G intron_variant MELA-AU 4 166229218 166229218 single base substitution A T intron_variant MELA-AU 4 166229380 166229380 single base substitution C T intron_variant MELA-AU 4 166229459 166229459 single base substitution C T intron_variant MELA-AU 4 166229608 166229608 single base substitution T G intron_variant MELA-AU 4 166230418 166230418 single base substitution C T intron_variant MELA-AU 4 166231307 166231307 single base substitution C T intron_variant MELA-AU 4 166231807 166231807 single base substitution C T 3_prime_UTR_variant MELA-AU 4 166231807 166231807 single base substitution C T exon_variant MELA-AU 4 166231807 166231807 single base substitution C T missense_variant T215I 644C>T MELA-AU 4 166231807 166231807 single base substitution C T missense_variant T284I 851C>T MELA-AU 4 166231807 166231807 single base substitution C T missense_variant T293I 878C>T MELA-AU 4 166231807 166231807 single base substitution C T missense_variant T381I 1142C>T MELA-AU 4 166231807 166231807 single base substitution C T missense_variant T385I 1154C>T MELA-AU 4 166232427 166232427 single base substitution C T downstream_gene_variant MELA-AU 4 166232427 166232427 single base substitution C T intron_variant MELA-AU 4 166233437 166233438 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 166233437 166233438 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 166233454 166233454 single base substitution G A downstream_gene_variant MELA-AU 4 166233454 166233454 single base substitution G A intron_variant MELA-AU 4 166233779 166233779 single base substitution C T downstream_gene_variant MELA-AU 4 166233779 166233779 single base substitution C T intron_variant MELA-AU 4 166234502 166234502 single base substitution C T 3_prime_UTR_variant MELA-AU 4 166234502 166234502 single base substitution C T downstream_gene_variant MELA-AU 4 166234502 166234502 single base substitution C T exon_variant MELA-AU 4 166234502 166234502 single base substitution C T synonymous_variant T318T 954C>T MELA-AU 4 166234502 166234502 single base substitution C T synonymous_variant T387T 1161C>T MELA-AU 4 166234502 166234502 single base substitution C T synonymous_variant T396T 1188C>T MELA-AU 4 166234502 166234502 single base substitution C T synonymous_variant T484T 1452C>T MELA-AU 4 166234502 166234502 single base substitution C T synonymous_variant T488T 1464C>T MELA-AU 4 166234819 166234819 single base substitution C T downstream_gene_variant MELA-AU 4 166234819 166234819 single base substitution C T intron_variant MELA-AU 4 166235153 166235153 single base substitution C T downstream_gene_variant MELA-AU 4 166235153 166235153 single base substitution C T intron_variant MELA-AU 4 166235409 166235409 single base substitution C T downstream_gene_variant MELA-AU 4 166235409 166235409 single base substitution C T intron_variant MELA-AU 4 166235556 166235556 single base substitution C T downstream_gene_variant MELA-AU 4 166235556 166235556 single base substitution C T intron_variant MELA-AU 4 166235701 166235701 single base substitution C T downstream_gene_variant MELA-AU 4 166235701 166235701 single base substitution C T intron_variant MELA-AU 4 166236036 166236036 single base substitution A G downstream_gene_variant MELA-AU 4 166236036 166236036 single base substitution A G intron_variant MELA-AU 4 166237990 166237990 single base substitution T G intron_variant MELA-AU 4 166239133 166239133 single base substitution C A intron_variant MELA-AU 4 166239437 166239437 single base substitution C T intron_variant MELA-AU 4 166239763 166239763 single base substitution A G intron_variant MELA-AU 4 166239919 166239919 single base substitution G A intron_variant MELA-AU 4 166240440 166240440 single base substitution C T intron_variant MELA-AU 4 166240812 166240812 single base substitution C T intron_variant MELA-AU 4 166241386 166241386 single base substitution G T intron_variant MELA-AU 4 166242061 166242061 single base substitution G A intron_variant MELA-AU 4 166242593 166242593 single base substitution G A intron_variant MELA-AU 4 166242770 166242770 single base substitution C T intron_variant MELA-AU 4 166244200 166244200 single base substitution G A 3_prime_UTR_variant MELA-AU 4 166244200 166244200 single base substitution G A downstream_gene_variant MELA-AU 4 166244262 166244262 single base substitution C T 3_prime_UTR_variant MELA-AU 4 166244262 166244262 single base substitution C T downstream_gene_variant MELA-AU 4 166244644 166244644 single base substitution A T downstream_gene_variant MELA-AU 4 166244886 166244886 single base substitution C T downstream_gene_variant MELA-AU 4 166245049 166245049 single base substitution T C downstream_gene_variant MELA-AU 4 166245473 166245473 single base substitution C T downstream_gene_variant MELA-AU 4 166246237 166246237 single base substitution G A downstream_gene_variant MELA-AU 4 166246275 166246275 single base substitution C T downstream_gene_variant MELA-AU 4 166246527 166246527 single base substitution C T downstream_gene_variant MELA-AU 4 166246931 166246931 single base substitution A T downstream_gene_variant MELA-AU 4 166246973 166246973 single base substitution G T downstream_gene_variant MELA-AU 4 166248623 166248623 single base substitution C T downstream_gene_variant MELA-AU 4 166248647 166248647 single base substitution C T downstream_gene_variant MELA-AU 4 166248702 166248702 single base substitution G A downstream_gene_variant MELA-AU 4 166248725 166248725 single base substitution G A downstream_gene_variant MELA-AU 4 166248730 166248730 single base substitution C T downstream_gene_variant MELA-AU 4 166248770 166248770 single base substitution G A downstream_gene_variant MELA-AU 4 166248779 166248779 single base substitution C T downstream_gene_variant MELA-AU 4 166248803 166248804 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 166249246 166249246 single base substitution T A downstream_gene_variant ORCA-IN 4 166156537 166156537 single base substitution G A intron_variant ORCA-IN 4 166156537 166156537 single base substitution G A upstream_gene_variant ORCA-IN 4 166182129 166182129 single base substitution T C intron_variant ORCA-IN 4 166182129 166182129 single base substitution T C upstream_gene_variant ORCA-IN 4 166184832 166184832 single base substitution T C downstream_gene_variant ORCA-IN 4 166184832 166184832 single base substitution T C intron_variant ORCA-IN 4 166200822 166200822 single base substitution G A intron_variant ORCA-IN 4 166202746 166202746 single base substitution C T intron_variant ORCA-IN 4 166232956 166232957 deletion of <=200bp TC - downstream_gene_variant ORCA-IN 4 166232956 166232957 deletion of <=200bp TC - intron_variant ORCA-IN 4 166247141 166247141 single base substitution G C downstream_gene_variant OV-AU 4 166128425 166128425 single base substitution G C upstream_gene_variant OV-AU 4 166134539 166134539 single base substitution C A intron_variant OV-AU 4 166140086 166140086 single base substitution T C intron_variant OV-AU 4 166140086 166140086 single base substitution T C upstream_gene_variant OV-AU 4 166143119 166143119 single base substitution C G intron_variant OV-AU 4 166145972 166145972 single base substitution C G intron_variant OV-AU 4 166150362 166150362 single base substitution C T intron_variant OV-AU 4 166154360 166154360 single base substitution T C intron_variant OV-AU 4 166155765 166155765 single base substitution A T intron_variant OV-AU 4 166155765 166155765 single base substitution A T upstream_gene_variant OV-AU 4 166167253 166167253 single base substitution G T intron_variant OV-AU 4 166184175 166184175 single base substitution T G intron_variant OV-AU 4 166184175 166184175 single base substitution T G upstream_gene_variant OV-AU 4 166185168 166185168 single base substitution C T downstream_gene_variant OV-AU 4 166185168 166185168 single base substitution C T intron_variant OV-AU 4 166189077 166189077 single base substitution T C downstream_gene_variant OV-AU 4 166189077 166189077 single base substitution T C intron_variant OV-AU 4 166206718 166206718 single base substitution C G intron_variant OV-AU 4 166208795 166208795 single base substitution C G intron_variant OV-AU 4 166214653 166214653 single base substitution T C intron_variant OV-AU 4 166226838 166226838 single base substitution C A 3_prime_UTR_variant OV-AU 4 166226838 166226838 single base substitution C A exon_variant OV-AU 4 166226838 166226838 single base substitution C A intron_variant OV-AU 4 166226838 166226838 single base substitution C A missense_variant H168N 502C>A OV-AU 4 166226838 166226838 single base substitution C A missense_variant H237N 709C>A OV-AU 4 166226838 166226838 single base substitution C A missense_variant H246N 736C>A OV-AU 4 166226838 166226838 single base substitution C A missense_variant H334N 1000C>A OV-AU 4 166226838 166226838 single base substitution C A missense_variant H338N 1012C>A OV-AU 4 166229498 166229498 single base substitution G T intron_variant OV-AU 4 166232213 166232213 single base substitution G T downstream_gene_variant OV-AU 4 166232213 166232213 single base substitution G T intron_variant OV-AU 4 166232678 166232678 single base substitution A G 3_prime_UTR_variant OV-AU 4 166232678 166232678 single base substitution A G downstream_gene_variant OV-AU 4 166232678 166232678 single base substitution A G exon_variant OV-AU 4 166232678 166232678 single base substitution A G missense_variant N268D 802A>G OV-AU 4 166232678 166232678 single base substitution A G missense_variant N337D 1009A>G OV-AU 4 166232678 166232678 single base substitution A G missense_variant N346D 1036A>G OV-AU 4 166232678 166232678 single base substitution A G missense_variant N434D 1300A>G OV-AU 4 166232678 166232678 single base substitution A G missense_variant N438D 1312A>G OV-AU 4 166239716 166239716 single base substitution G C intron_variant OV-AU 4 166241702 166241702 single base substitution A C intron_variant OV-AU 4 166245067 166245067 single base substitution A G downstream_gene_variant OV-AU 4 166247649 166247649 single base substitution A T downstream_gene_variant PACA-AU 4 166128624 166128624 single base substitution A C upstream_gene_variant PACA-AU 4 166129397 166129397 single base substitution C T intron_variant PACA-AU 4 166129397 166129397 single base substitution C T upstream_gene_variant PACA-AU 4 166132286 166132286 single base substitution G A intron_variant PACA-AU 4 166133431 166133431 single base substitution A G intron_variant PACA-AU 4 166134353 166134353 single base substitution G A intron_variant PACA-AU 4 166135873 166135873 single base substitution T G intron_variant PACA-AU 4 166136884 166136884 single base substitution T C intron_variant PACA-AU 4 166136884 166136884 single base substitution T C upstream_gene_variant PACA-AU 4 166136894 166136894 single base substitution A G intron_variant PACA-AU 4 166136894 166136894 single base substitution A G upstream_gene_variant PACA-AU 4 166136964 166136964 single base substitution G A intron_variant PACA-AU 4 166136964 166136964 single base substitution G A upstream_gene_variant PACA-AU 4 166140267 166140267 insertion of <=200bp - T intron_variant PACA-AU 4 166140267 166140267 insertion of <=200bp - T upstream_gene_variant PACA-AU 4 166145381 166145381 single base substitution A T intron_variant PACA-AU 4 166145382 166145382 single base substitution A T intron_variant PACA-AU 4 166147630 166147630 single base substitution C T intron_variant PACA-AU 4 166152878 166152878 single base substitution T C intron_variant PACA-AU 4 166156265 166156265 single base substitution G A intron_variant PACA-AU 4 166156265 166156265 single base substitution G A upstream_gene_variant PACA-AU 4 166156266 166156266 single base substitution T C intron_variant PACA-AU 4 166156266 166156266 single base substitution T C upstream_gene_variant PACA-AU 4 166159762 166159762 single base substitution G A intron_variant PACA-AU 4 166159762 166159762 single base substitution G A upstream_gene_variant PACA-AU 4 166161733 166161733 single base substitution C A downstream_gene_variant PACA-AU 4 166161733 166161733 single base substitution C A intron_variant PACA-AU 4 166163560 166163560 single base substitution A T downstream_gene_variant PACA-AU 4 166163560 166163560 single base substitution A T intron_variant PACA-AU 4 166166151 166166151 deletion of <=200bp G - intron_variant PACA-AU 4 166167972 166167972 single base substitution G A intron_variant PACA-AU 4 166168249 166168249 single base substitution T C intron_variant PACA-AU 4 166172139 166172139 single base substitution A C intron_variant PACA-AU 4 166173385 166173385 insertion of <=200bp - G intron_variant PACA-AU 4 166176530 166176530 deletion of <=200bp T - intron_variant PACA-AU 4 166181718 166181718 single base substitution A G intron_variant PACA-AU 4 166181718 166181718 single base substitution A G upstream_gene_variant PACA-AU 4 166183906 166183906 insertion of <=200bp - T intron_variant PACA-AU 4 166183906 166183906 insertion of <=200bp - T upstream_gene_variant PACA-AU 4 166186159 166186159 single base substitution T C downstream_gene_variant PACA-AU 4 166186159 166186159 single base substitution T C intron_variant PACA-AU 4 166187495 166187495 single base substitution T A downstream_gene_variant PACA-AU 4 166187495 166187495 single base substitution T A intron_variant PACA-AU 4 166189018 166189018 single base substitution G T downstream_gene_variant PACA-AU 4 166189018 166189018 single base substitution G T intron_variant PACA-AU 4 166194715 166194715 single base substitution A G intron_variant PACA-AU 4 166195212 166195212 insertion of <=200bp - TTTTTC intron_variant PACA-AU 4 166198900 166198900 single base substitution A C intron_variant PACA-AU 4 166199965 166199965 single base substitution G A intron_variant PACA-AU 4 166202902 166202902 single base substitution A C intron_variant PACA-AU 4 166206508 166206508 single base substitution G A intron_variant PACA-AU 4 166206746 166206746 single base substitution A G intron_variant PACA-AU 4 166218329 166218329 single base substitution G T intron_variant PACA-AU 4 166224244 166224244 single base substitution G A intron_variant PACA-AU 4 166225082 166225082 single base substitution T C intron_variant PACA-AU 4 166238156 166238156 single base substitution C T intron_variant PACA-AU 4 166238680 166238680 single base substitution C T intron_variant PACA-AU 4 166242954 166242954 single base substitution G C intron_variant PACA-AU 4 166245704 166245704 single base substitution G A downstream_gene_variant PACA-AU 4 166248662 166248662 single base substitution T G downstream_gene_variant PACA-CA 4 166126199 166126199 single base substitution G A upstream_gene_variant PACA-CA 4 166126745 166126745 single base substitution T A upstream_gene_variant PACA-CA 4 166128237 166128237 single base substitution A G upstream_gene_variant PACA-CA 4 166128455 166128455 insertion of <=200bp - T upstream_gene_variant PACA-CA 4 166134152 166134152 single base substitution G A intron_variant PACA-CA 4 166135888 166135888 single base substitution A G intron_variant PACA-CA 4 166140457 166140457 single base substitution C G intron_variant PACA-CA 4 166140457 166140457 single base substitution C G upstream_gene_variant PACA-CA 4 166140847 166140847 single base substitution T A 5_prime_UTR_variant PACA-CA 4 166140847 166140847 single base substitution T A intron_variant PACA-CA 4 166140847 166140847 single base substitution T A upstream_gene_variant PACA-CA 4 166141952 166141952 single base substitution G A intron_variant PACA-CA 4 166145214 166145214 single base substitution G A intron_variant PACA-CA 4 166145214 166145214 single base substitution G A splice_region_variant PACA-CA 4 166145288 166145288 single base substitution A G intron_variant PACA-CA 4 166147181 166147181 single base substitution A T intron_variant PACA-CA 4 166150086 166150086 single base substitution A G intron_variant PACA-CA 4 166155319 166155323 deletion of <=200bp TTACA - intron_variant PACA-CA 4 166155319 166155323 deletion of <=200bp TTACA - upstream_gene_variant PACA-CA 4 166156371 166156371 single base substitution A G intron_variant PACA-CA 4 166156371 166156371 single base substitution A G upstream_gene_variant PACA-CA 4 166156895 166156895 single base substitution T C intron_variant PACA-CA 4 166156895 166156895 single base substitution T C upstream_gene_variant PACA-CA 4 166157993 166157993 single base substitution T C intron_variant PACA-CA 4 166157993 166157993 single base substitution T C upstream_gene_variant PACA-CA 4 166159206 166159206 single base substitution G A intron_variant PACA-CA 4 166159206 166159206 single base substitution G A upstream_gene_variant PACA-CA 4 166159762 166159762 single base substitution G A intron_variant PACA-CA 4 166159762 166159762 single base substitution G A upstream_gene_variant PACA-CA 4 166163259 166163259 single base substitution G T downstream_gene_variant PACA-CA 4 166163259 166163259 single base substitution G T intron_variant PACA-CA 4 166166026 166166026 single base substitution G T intron_variant PACA-CA 4 166168340 166168344 deletion of <=200bp TTTAC - intron_variant PACA-CA 4 166172139 166172139 single base substitution A C intron_variant PACA-CA 4 166172766 166172766 single base substitution T G intron_variant PACA-CA 4 166174369 166174369 single base substitution T C intron_variant PACA-CA 4 166174531 166174531 single base substitution A C intron_variant PACA-CA 4 166176043 166176043 single base substitution G A intron_variant PACA-CA 4 166177472 166177472 deletion of <=200bp T - intron_variant PACA-CA 4 166180052 166180052 single base substitution C T intron_variant PACA-CA 4 166180052 166180052 single base substitution C T upstream_gene_variant PACA-CA 4 166180213 166180213 single base substitution A G intron_variant PACA-CA 4 166180213 166180213 single base substitution A G upstream_gene_variant PACA-CA 4 166181312 166181312 single base substitution T C intron_variant PACA-CA 4 166181312 166181312 single base substitution T C upstream_gene_variant PACA-CA 4 166181731 166181731 single base substitution G T intron_variant PACA-CA 4 166181731 166181731 single base substitution G T upstream_gene_variant PACA-CA 4 166182143 166182143 single base substitution G A intron_variant PACA-CA 4 166182143 166182143 single base substitution G A upstream_gene_variant PACA-CA 4 166182966 166182966 single base substitution G T intron_variant PACA-CA 4 166182966 166182966 single base substitution G T upstream_gene_variant PACA-CA 4 166186957 166186957 single base substitution G C downstream_gene_variant PACA-CA 4 166186957 166186957 single base substitution G C intron_variant PACA-CA 4 166191263 166191263 single base substitution C T intron_variant PACA-CA 4 166195991 166195991 single base substitution A G intron_variant PACA-CA 4 166196783 166196783 single base substitution G A intron_variant PACA-CA 4 166199606 166199606 single base substitution C T intron_variant PACA-CA 4 166203172 166203181 deletion of <=200bp AAACAAAATG - intron_variant PACA-CA 4 166208061 166208061 single base substitution G A intron_variant PACA-CA 4 166212958 166212958 single base substitution C G intron_variant PACA-CA 4 166212997 166212997 single base substitution A T intron_variant PACA-CA 4 166215047 166215047 single base substitution G T intron_variant PACA-CA 4 166215202 166215202 single base substitution G T intron_variant PACA-CA 4 166215684 166215684 deletion of <=200bp T - intron_variant PACA-CA 4 166216061 166216061 single base substitution G A intron_variant PACA-CA 4 166222520 166222520 single base substitution C G intron_variant PACA-CA 4 166228260 166228260 single base substitution G C intron_variant PACA-CA 4 166229820 166229820 single base substitution G C intron_variant PACA-CA 4 166232574 166232574 deletion of <=200bp T - downstream_gene_variant PACA-CA 4 166232574 166232574 deletion of <=200bp T - intron_variant PACA-CA 4 166241885 166241885 insertion of <=200bp - A intron_variant PACA-CA 4 166244748 166244748 single base substitution G T downstream_gene_variant PACA-CA 4 166246615 166246615 single base substitution T C downstream_gene_variant PAEN-AU 4 166166370 166166370 single base substitution C T intron_variant PAEN-AU 4 166182118 166182118 single base substitution C G intron_variant PAEN-AU 4 166182118 166182118 single base substitution C G upstream_gene_variant PAEN-AU 4 166222752 166222752 single base substitution C T intron_variant PAEN-IT 4 166166678 166166678 single base substitution G T intron_variant PAEN-IT 4 166166679 166166679 single base substitution G T intron_variant PAEN-IT 4 166173066 166173066 single base substitution G T intron_variant PBCA-DE 4 166125374 166125374 single base substitution G A upstream_gene_variant PBCA-DE 4 166126745 166126745 single base substitution T A upstream_gene_variant PBCA-DE 4 166131465 166131465 single base substitution G T intron_variant PBCA-DE 4 166133608 166133608 single base substitution G T intron_variant PBCA-DE 4 166139945 166139945 single base substitution A G intron_variant PBCA-DE 4 166139945 166139945 single base substitution A G upstream_gene_variant PBCA-DE 4 166139976 166139976 single base substitution T C intron_variant PBCA-DE 4 166139976 166139976 single base substitution T C upstream_gene_variant PBCA-DE 4 166149050 166149050 single base substitution T C intron_variant PBCA-DE 4 166150603 166150603 single base substitution T C intron_variant PBCA-DE 4 166150818 166150818 insertion of <=200bp - T intron_variant PBCA-DE 4 166152265 166152265 insertion of <=200bp - GTT intron_variant PBCA-DE 4 166156407 166156407 deletion of <=200bp C - intron_variant PBCA-DE 4 166156407 166156407 deletion of <=200bp C - upstream_gene_variant PBCA-DE 4 166158941 166158941 insertion of <=200bp - T intron_variant PBCA-DE 4 166158941 166158941 insertion of <=200bp - T upstream_gene_variant PBCA-DE 4 166160791 166160791 deletion of <=200bp T - downstream_gene_variant PBCA-DE 4 166160791 166160791 deletion of <=200bp T - intron_variant PBCA-DE 4 166160791 166160791 deletion of <=200bp T - upstream_gene_variant PBCA-DE 4 166172184 166172184 deletion of <=200bp T - intron_variant PBCA-DE 4 166182295 166182295 deletion of <=200bp G - intron_variant PBCA-DE 4 166182295 166182295 deletion of <=200bp G - upstream_gene_variant PBCA-DE 4 166183117 166183117 single base substitution A G intron_variant PBCA-DE 4 166183117 166183117 single base substitution A G upstream_gene_variant PBCA-DE 4 166183120 166183120 single base substitution G A intron_variant PBCA-DE 4 166183120 166183120 single base substitution G A upstream_gene_variant PBCA-DE 4 166185738 166185739 deletion of <=200bp AT - downstream_gene_variant PBCA-DE 4 166185738 166185739 deletion of <=200bp AT - intron_variant PBCA-DE 4 166207262 166207263 deletion of <=200bp AA - intron_variant PBCA-DE 4 166223916 166223916 single base substitution G T intron_variant PBCA-DE 4 166232962 166232963 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 4 166232962 166232963 deletion of <=200bp TG - intron_variant PBCA-DE 4 166232998 166232998 insertion of <=200bp - TGTGTGTGTT downstream_gene_variant PBCA-DE 4 166232998 166232998 insertion of <=200bp - TGTGTGTGTT intron_variant PBCA-DE 4 166236829 166236829 single base substitution A G downstream_gene_variant PBCA-DE 4 166236829 166236829 single base substitution A G intron_variant PBCA-DE 4 166237942 166237942 single base substitution A T intron_variant PBCA-DE 4 166248597 166248597 single base substitution T C downstream_gene_variant PRAD-CA 4 166134385 166134385 single base substitution C T intron_variant PRAD-CA 4 166140532 166140532 single base substitution A G intron_variant PRAD-CA 4 166140532 166140532 single base substitution A G upstream_gene_variant PRAD-CA 4 166145379 166145379 single base substitution T A intron_variant PRAD-CA 4 166149298 166149298 single base substitution T C intron_variant PRAD-CA 4 166151028 166151028 single base substitution A G intron_variant PRAD-CA 4 166151221 166151221 single base substitution A T intron_variant PRAD-CA 4 166172767 166172767 single base substitution G T intron_variant PRAD-CA 4 166181080 166181080 single base substitution C G intron_variant PRAD-CA 4 166181080 166181080 single base substitution C G upstream_gene_variant PRAD-CA 4 166185759 166185759 single base substitution C T downstream_gene_variant PRAD-CA 4 166185759 166185759 single base substitution C T intron_variant PRAD-CA 4 166185858 166185858 single base substitution A G downstream_gene_variant PRAD-CA 4 166185858 166185858 single base substitution A G intron_variant PRAD-CA 4 166189347 166189347 single base substitution T C downstream_gene_variant PRAD-CA 4 166189347 166189347 single base substitution T C intron_variant PRAD-CA 4 166202746 166202746 single base substitution C T intron_variant PRAD-CA 4 166204368 166204368 single base substitution T G intron_variant PRAD-CA 4 166214191 166214191 single base substitution G T intron_variant PRAD-CA 4 166221451 166221451 single base substitution G A intron_variant PRAD-UK 4 166131279 166131279 deletion of <=200bp G - 5_prime_UTR_variant PRAD-UK 4 166131279 166131279 deletion of <=200bp G - intron_variant PRAD-UK 4 166134882 166134882 single base substitution A T intron_variant PRAD-UK 4 166137929 166137929 single base substitution G A intron_variant PRAD-UK 4 166137929 166137929 single base substitution G A upstream_gene_variant PRAD-UK 4 166140333 166140333 deletion of <=200bp A - intron_variant PRAD-UK 4 166140333 166140333 deletion of <=200bp A - upstream_gene_variant PRAD-UK 4 166142841 166142841 single base substitution G T intron_variant PRAD-UK 4 166144236 166144277 deletion of <=200bp TTTTAGACAGGAGGCCCAGAGACCTAGCTTTATATCCCAGCC - intron_variant PRAD-UK 4 166148610 166148610 single base substitution C T intron_variant PRAD-UK 4 166159910 166159910 single base substitution C G intron_variant PRAD-UK 4 166159910 166159910 single base substitution C G upstream_gene_variant PRAD-UK 4 166161089 166161089 deletion of <=200bp A - downstream_gene_variant PRAD-UK 4 166161089 166161089 deletion of <=200bp A - intron_variant PRAD-UK 4 166161089 166161089 deletion of <=200bp A - upstream_gene_variant PRAD-UK 4 166169759 166169759 single base substitution G A intron_variant PRAD-UK 4 166177645 166177662 deletion of <=200bp CAAAGGCCTTTCAGACTC - intron_variant PRAD-UK 4 166182295 166182295 deletion of <=200bp G - intron_variant PRAD-UK 4 166182295 166182295 deletion of <=200bp G - upstream_gene_variant PRAD-UK 4 166197703 166197703 single base substitution T A intron_variant PRAD-UK 4 166200692 166200692 single base substitution G A intron_variant PRAD-UK 4 166225509 166225509 single base substitution T G intron_variant PRAD-US 4 166218818 166218818 single base substitution A C 3_prime_UTR_variant PRAD-US 4 166218818 166218818 single base substitution A C exon_variant PRAD-US 4 166218818 166218818 single base substitution A C missense_variant M141L 421A>C PRAD-US 4 166218818 166218818 single base substitution A C missense_variant M150L 448A>C PRAD-US 4 166218818 166218818 single base substitution A C missense_variant M238L 712A>C PRAD-US 4 166218818 166218818 single base substitution A C missense_variant M242L 724A>C PRAD-US 4 166218818 166218818 single base substitution A C missense_variant M72L 214A>C PRAD-US 4 166234520 166234520 single base substitution T C downstream_gene_variant PRAD-US 4 166234520 166234520 single base substitution T C splice_donor_variant PRAD-US 4 166238998 166238998 single base substitution C G 3_prime_UTR_variant PRAD-US 4 166238998 166238998 single base substitution C G exon_variant PRAD-US 4 166238998 166238998 single base substitution C G missense_variant L378V 1132C>G PRAD-US 4 166238998 166238998 single base substitution C G missense_variant L447V 1339C>G PRAD-US 4 166238998 166238998 single base substitution C G missense_variant L456V 1366C>G PRAD-US 4 166238998 166238998 single base substitution C G missense_variant L544V 1630C>G PRAD-US 4 166238998 166238998 single base substitution C G missense_variant L548V 1642C>G READ-US 4 166231767 166231767 single base substitution C T 3_prime_UTR_variant READ-US 4 166231767 166231767 single base substitution C T exon_variant READ-US 4 166231767 166231767 single base substitution C T missense_variant R202C 604C>T READ-US 4 166231767 166231767 single base substitution C T missense_variant R271C 811C>T READ-US 4 166231767 166231767 single base substitution C T missense_variant R280C 838C>T READ-US 4 166231767 166231767 single base substitution C T missense_variant R368C 1102C>T READ-US 4 166231767 166231767 single base substitution C T missense_variant R372C 1114C>T RECA-EU 4 166127305 166127305 single base substitution C T upstream_gene_variant RECA-EU 4 166143563 166143563 single base substitution G A intron_variant RECA-EU 4 166150086 166150086 single base substitution A G intron_variant RECA-EU 4 166165629 166165629 single base substitution G A intron_variant RECA-EU 4 166171988 166171988 single base substitution C A intron_variant RECA-EU 4 166179762 166179762 single base substitution A G intron_variant RECA-EU 4 166179762 166179762 single base substitution A G upstream_gene_variant RECA-EU 4 166200059 166200059 single base substitution C A intron_variant RECA-EU 4 166209546 166209546 single base substitution G T intron_variant RECA-EU 4 166215271 166215271 single base substitution T G intron_variant RECA-EU 4 166215794 166215794 single base substitution A C intron_variant RECA-EU 4 166224245 166224245 single base substitution T A intron_variant RECA-EU 4 166228441 166228441 single base substitution T C intron_variant SKCA-BR 4 166124081 166124081 single base substitution T A upstream_gene_variant SKCA-BR 4 166125731 166125731 single base substitution A C upstream_gene_variant SKCA-BR 4 166125734 166125734 single base substitution T C upstream_gene_variant SKCA-BR 4 166125738 166125738 single base substitution A C upstream_gene_variant SKCA-BR 4 166129165 166129165 single base substitution T G intron_variant SKCA-BR 4 166129165 166129165 single base substitution T G upstream_gene_variant SKCA-BR 4 166129169 166129169 single base substitution A G intron_variant SKCA-BR 4 166129169 166129169 single base substitution A G upstream_gene_variant SKCA-BR 4 166129637 166129637 single base substitution G A intron_variant SKCA-BR 4 166129637 166129637 single base substitution G A upstream_gene_variant SKCA-BR 4 166129902 166129902 single base substitution T C intron_variant SKCA-BR 4 166129902 166129902 single base substitution T C upstream_gene_variant SKCA-BR 4 166129978 166129978 single base substitution C T intron_variant SKCA-BR 4 166129978 166129978 single base substitution C T upstream_gene_variant SKCA-BR 4 166131192 166131192 single base substitution C T 5_prime_UTR_variant SKCA-BR 4 166131192 166131192 single base substitution C T intron_variant SKCA-BR 4 166133818 166133818 single base substitution C T intron_variant SKCA-BR 4 166134819 166134819 single base substitution G A intron_variant SKCA-BR 4 166136045 166136046 deletion of <=200bp GT - intron_variant SKCA-BR 4 166138373 166138373 single base substitution C T intron_variant SKCA-BR 4 166138373 166138373 single base substitution C T upstream_gene_variant SKCA-BR 4 166140357 166140357 single base substitution G C intron_variant SKCA-BR 4 166140357 166140357 single base substitution G C upstream_gene_variant SKCA-BR 4 166140388 166140388 single base substitution G A intron_variant SKCA-BR 4 166140388 166140388 single base substitution G A upstream_gene_variant SKCA-BR 4 166140828 166140828 single base substitution G A 5_prime_UTR_variant SKCA-BR 4 166140828 166140828 single base substitution G A intron_variant SKCA-BR 4 166140828 166140828 single base substitution G A upstream_gene_variant SKCA-BR 4 166141039 166141039 single base substitution C T intron_variant SKCA-BR 4 166141039 166141039 single base substitution C T upstream_gene_variant SKCA-BR 4 166143754 166143754 single base substitution G A intron_variant SKCA-BR 4 166144502 166144502 single base substitution C T intron_variant SKCA-BR 4 166148938 166148938 single base substitution C T intron_variant SKCA-BR 4 166150857 166150857 single base substitution G A intron_variant SKCA-BR 4 166152625 166152625 single base substitution A T intron_variant SKCA-BR 4 166153649 166153649 single base substitution G A intron_variant SKCA-BR 4 166154870 166154873 deletion of <=200bp GGAA - intron_variant SKCA-BR 4 166155352 166155352 single base substitution T G intron_variant SKCA-BR 4 166155352 166155352 single base substitution T G upstream_gene_variant SKCA-BR 4 166156336 166156336 single base substitution G A intron_variant SKCA-BR 4 166156336 166156336 single base substitution G A upstream_gene_variant SKCA-BR 4 166156353 166156357 deletion of <=200bp CTTAT - intron_variant SKCA-BR 4 166156353 166156357 deletion of <=200bp CTTAT - upstream_gene_variant SKCA-BR 4 166156814 166156814 single base substitution G A intron_variant SKCA-BR 4 166156814 166156814 single base substitution G A upstream_gene_variant SKCA-BR 4 166158465 166158465 single base substitution C T intron_variant SKCA-BR 4 166158465 166158465 single base substitution C T upstream_gene_variant SKCA-BR 4 166159032 166159032 single base substitution C T intron_variant SKCA-BR 4 166159032 166159032 single base substitution C T upstream_gene_variant SKCA-BR 4 166159478 166159478 single base substitution C A intron_variant SKCA-BR 4 166159478 166159478 single base substitution C A upstream_gene_variant SKCA-BR 4 166159650 166159650 single base substitution C T intron_variant SKCA-BR 4 166159650 166159650 single base substitution C T upstream_gene_variant SKCA-BR 4 166161134 166161134 single base substitution C T downstream_gene_variant SKCA-BR 4 166161134 166161134 single base substitution C T intron_variant SKCA-BR 4 166161134 166161134 single base substitution C T upstream_gene_variant SKCA-BR 4 166161687 166161688 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 4 166161687 166161688 deletion of <=200bp CT - intron_variant SKCA-BR 4 166166760 166166760 single base substitution T G intron_variant SKCA-BR 4 166166771 166166771 single base substitution C G intron_variant SKCA-BR 4 166167112 166167112 single base substitution C T intron_variant SKCA-BR 4 166170905 166170905 single base substitution T G intron_variant SKCA-BR 4 166172579 166172579 single base substitution C T intron_variant SKCA-BR 4 166174085 166174085 single base substitution C T intron_variant SKCA-BR 4 166176386 166176391 deletion of <=200bp ATTAAT - intron_variant SKCA-BR 4 166180430 166180430 single base substitution T A intron_variant SKCA-BR 4 166180430 166180430 single base substitution T A upstream_gene_variant SKCA-BR 4 166180617 166180617 single base substitution C T intron_variant SKCA-BR 4 166180617 166180617 single base substitution C T upstream_gene_variant SKCA-BR 4 166181093 166181093 single base substitution G A intron_variant SKCA-BR 4 166181093 166181093 single base substitution G A upstream_gene_variant SKCA-BR 4 166183721 166183724 deletion of <=200bp TTTG - intron_variant SKCA-BR 4 166183721 166183724 deletion of <=200bp TTTG - upstream_gene_variant SKCA-BR 4 166184760 166184760 insertion of <=200bp - GT downstream_gene_variant SKCA-BR 4 166184760 166184760 insertion of <=200bp - GT intron_variant SKCA-BR 4 166185496 166185496 single base substitution C T downstream_gene_variant SKCA-BR 4 166185496 166185496 single base substitution C T intron_variant SKCA-BR 4 166185737 166185741 deletion of <=200bp CATAT - downstream_gene_variant SKCA-BR 4 166185737 166185741 deletion of <=200bp CATAT - intron_variant SKCA-BR 4 166185860 166185892 deletion of <=200bp ATATATATATATACATATATATATATATATATG - downstream_gene_variant SKCA-BR 4 166185860 166185892 deletion of <=200bp ATATATATATATACATATATATATATATATATG - intron_variant SKCA-BR 4 166186618 166186618 single base substitution G C downstream_gene_variant SKCA-BR 4 166186618 166186618 single base substitution G C intron_variant SKCA-BR 4 166190551 166190551 single base substitution C T intron_variant SKCA-BR 4 166196250 166196250 insertion of <=200bp - ATTTATTTTATTTTAT intron_variant SKCA-BR 4 166197577 166197577 single base substitution G A intron_variant SKCA-BR 4 166201029 166201029 single base substitution A T intron_variant SKCA-BR 4 166203992 166203992 single base substitution C T intron_variant SKCA-BR 4 166205165 166205165 single base substitution A G intron_variant SKCA-BR 4 166205834 166205834 single base substitution C T intron_variant SKCA-BR 4 166209610 166209610 single base substitution C T intron_variant SKCA-BR 4 166209982 166209982 single base substitution C T intron_variant SKCA-BR 4 166213726 166213726 single base substitution C T intron_variant SKCA-BR 4 166213913 166213913 single base substitution C T intron_variant SKCA-BR 4 166214471 166214471 single base substitution C T intron_variant SKCA-BR 4 166214822 166214822 insertion of <=200bp - AT intron_variant SKCA-BR 4 166215424 166215424 single base substitution A G intron_variant SKCA-BR 4 166216780 166216780 single base substitution G A intron_variant SKCA-BR 4 166219425 166219426 deletion of <=200bp CT - intron_variant SKCA-BR 4 166219426 166219426 single base substitution T G intron_variant SKCA-BR 4 166219427 166219428 deletion of <=200bp GT - intron_variant SKCA-BR 4 166219428 166219428 single base substitution T G intron_variant SKCA-BR 4 166219435 166219435 single base substitution C A intron_variant SKCA-BR 4 166219446 166219446 single base substitution C T intron_variant SKCA-BR 4 166220099 166220099 single base substitution T C intron_variant SKCA-BR 4 166220381 166220381 single base substitution C T intron_variant SKCA-BR 4 166222050 166222050 single base substitution A C intron_variant SKCA-BR 4 166224646 166224646 single base substitution G C intron_variant SKCA-BR 4 166226499 166226499 single base substitution T G intron_variant SKCA-BR 4 166230715 166230716 deletion of <=200bp AT - intron_variant SKCA-BR 4 166231125 166231126 deletion of <=200bp TG - intron_variant SKCA-BR 4 166231126 166231126 single base substitution G T intron_variant SKCA-BR 4 166231127 166231128 deletion of <=200bp TA - intron_variant SKCA-BR 4 166231128 166231128 single base substitution A T intron_variant SKCA-BR 4 166233576 166233576 insertion of <=200bp - ATT downstream_gene_variant SKCA-BR 4 166233576 166233576 insertion of <=200bp - ATT intron_variant SKCM-US 4 166199580 166199580 single base substitution C T intron_variant SKCM-US 4 166199637 166199637 single base substitution C T intron_variant SKCM-US 4 166199844 166199844 single base substitution C T intron_variant SKCM-US 4 166200246 166200246 single base substitution C T intron_variant SKCM-US 4 166200515 166200515 single base substitution C T intron_variant SKCM-US 4 166200720 166200720 single base substitution C T intron_variant SKCM-US 4 166218843 166218843 single base substitution G A 3_prime_UTR_variant SKCM-US 4 166218843 166218843 single base substitution G A exon_variant SKCM-US 4 166218843 166218843 single base substitution G A missense_variant R149Q 446G>A SKCM-US 4 166218843 166218843 single base substitution G A missense_variant R158Q 473G>A SKCM-US 4 166218843 166218843 single base substitution G A missense_variant R246Q 737G>A SKCM-US 4 166218843 166218843 single base substitution G A missense_variant R250Q 749G>A SKCM-US 4 166218843 166218843 single base substitution G A missense_variant R80Q 239G>A SKCM-US 4 166226792 166226792 single base substitution G A 3_prime_UTR_variant SKCM-US 4 166226792 166226792 single base substitution G A exon_variant SKCM-US 4 166226792 166226792 single base substitution G A intron_variant SKCM-US 4 166226792 166226792 single base substitution G A synonymous_variant K152K 456G>A SKCM-US 4 166226792 166226792 single base substitution G A synonymous_variant K221K 663G>A SKCM-US 4 166226792 166226792 single base substitution G A synonymous_variant K230K 690G>A SKCM-US 4 166226792 166226792 single base substitution G A synonymous_variant K318K 954G>A SKCM-US 4 166226792 166226792 single base substitution G A synonymous_variant K322K 966G>A SKCM-US 4 166232670 166232670 single base substitution C T 3_prime_UTR_variant SKCM-US 4 166232670 166232670 single base substitution C T downstream_gene_variant SKCM-US 4 166232670 166232670 single base substitution C T exon_variant SKCM-US 4 166232670 166232670 single base substitution C T missense_variant A265V 794C>T SKCM-US 4 166232670 166232670 single base substitution C T missense_variant A334V 1001C>T SKCM-US 4 166232670 166232670 single base substitution C T missense_variant A343V 1028C>T SKCM-US 4 166232670 166232670 single base substitution C T missense_variant A431V 1292C>T SKCM-US 4 166232670 166232670 single base substitution C T missense_variant A435V 1304C>T SKCM-US 4 166239029 166239029 single base substitution C T 3_prime_UTR_variant SKCM-US 4 166239029 166239029 single base substitution C T exon_variant SKCM-US 4 166239029 166239029 single base substitution C T missense_variant S388F 1163C>T SKCM-US 4 166239029 166239029 single base substitution C T missense_variant S457F 1370C>T SKCM-US 4 166239029 166239029 single base substitution C T missense_variant S466F 1397C>T SKCM-US 4 166239029 166239029 single base substitution C T missense_variant S554F 1661C>T SKCM-US 4 166239029 166239029 single base substitution C T missense_variant S558F 1673C>T STAD-US 4 166141156 166141156 single base substitution A G 5_prime_UTR_variant STAD-US 4 166141156 166141156 single base substitution A G exon_variant STAD-US 4 166141156 166141156 single base substitution A G missense_variant T33A 97A>G STAD-US 4 166141156 166141156 single base substitution A G missense_variant T37A 109A>G STAD-US 4 166160048 166160048 single base substitution A G 3_prime_UTR_variant STAD-US 4 166160048 166160048 single base substitution A G downstream_gene_variant STAD-US 4 166160048 166160048 single base substitution A G exon_variant STAD-US 4 166160048 166160048 single base substitution A G intron_variant STAD-US 4 166160048 166160048 single base substitution A G synonymous_variant V126V 378A>G STAD-US 4 166160048 166160048 single base substitution A G synonymous_variant V130V 390A>G STAD-US 4 166160048 166160048 single base substitution A G synonymous_variant V38V 114A>G STAD-US 4 166160048 166160048 single base substitution A G synonymous_variant V88V 264A>G STAD-US 4 166160048 166160048 single base substitution A G upstream_gene_variant STAD-US 4 166200297 166200297 single base substitution G A intron_variant STAD-US 4 166215608 166215608 single base substitution T G 3_prime_UTR_variant STAD-US 4 166215608 166215608 single base substitution T G exon_variant STAD-US 4 166215608 166215608 single base substitution T G synonymous_variant S117S 351T>G STAD-US 4 166215608 166215608 single base substitution T G synonymous_variant S126S 378T>G STAD-US 4 166215608 166215608 single base substitution T G synonymous_variant S214S 642T>G STAD-US 4 166215608 166215608 single base substitution T G synonymous_variant S218S 654T>G STAD-US 4 166215608 166215608 single base substitution T G synonymous_variant S48S 144T>G STAD-US 4 166218824 166218824 single base substitution C T 3_prime_UTR_variant STAD-US 4 166218824 166218824 single base substitution C T exon_variant STAD-US 4 166218824 166218824 single base substitution C T stop_gained R143* 427C>T STAD-US 4 166218824 166218824 single base substitution C T stop_gained R152* 454C>T STAD-US 4 166218824 166218824 single base substitution C T stop_gained R240* 718C>T STAD-US 4 166218824 166218824 single base substitution C T stop_gained R244* 730C>T STAD-US 4 166218824 166218824 single base substitution C T stop_gained R74* 220C>T STAD-US 4 166218834 166218834 single base substitution A T 3_prime_UTR_variant STAD-US 4 166218834 166218834 single base substitution A T exon_variant STAD-US 4 166218834 166218834 single base substitution A T missense_variant E146V 437A>T STAD-US 4 166218834 166218834 single base substitution A T missense_variant E155V 464A>T STAD-US 4 166218834 166218834 single base substitution A T missense_variant E243V 728A>T STAD-US 4 166218834 166218834 single base substitution A T missense_variant E247V 740A>T STAD-US 4 166218834 166218834 single base substitution A T missense_variant E77V 230A>T STAD-US 4 166231869 166231869 single base substitution T C 3_prime_UTR_variant STAD-US 4 166231869 166231869 single base substitution T C exon_variant STAD-US 4 166231869 166231869 single base substitution T C synonymous_variant L236L 706T>C STAD-US 4 166231869 166231869 single base substitution T C synonymous_variant L305L 913T>C STAD-US 4 166231869 166231869 single base substitution T C synonymous_variant L314L 940T>C STAD-US 4 166231869 166231869 single base substitution T C synonymous_variant L402L 1204T>C STAD-US 4 166231869 166231869 single base substitution T C synonymous_variant L406L 1216T>C STAD-US 4 166231877 166231877 single base substitution T C 3_prime_UTR_variant STAD-US 4 166231877 166231877 single base substitution T C exon_variant STAD-US 4 166231877 166231877 single base substitution T C synonymous_variant A238A 714T>C STAD-US 4 166231877 166231877 single base substitution T C synonymous_variant A307A 921T>C STAD-US 4 166231877 166231877 single base substitution T C synonymous_variant A316A 948T>C STAD-US 4 166231877 166231877 single base substitution T C synonymous_variant A404A 1212T>C STAD-US 4 166231877 166231877 single base substitution T C synonymous_variant A408A 1224T>C STAD-US 4 166232625 166232625 single base substitution C T 3_prime_UTR_variant STAD-US 4 166232625 166232625 single base substitution C T downstream_gene_variant STAD-US 4 166232625 166232625 single base substitution C T exon_variant STAD-US 4 166232625 166232625 single base substitution C T missense_variant S250F 749C>T STAD-US 4 166232625 166232625 single base substitution C T missense_variant S319F 956C>T STAD-US 4 166232625 166232625 single base substitution C T missense_variant S328F 983C>T STAD-US 4 166232625 166232625 single base substitution C T missense_variant S416F 1247C>T STAD-US 4 166232625 166232625 single base substitution C T missense_variant S420F 1259C>T STAD-US 4 166232671 166232671 single base substitution T A 3_prime_UTR_variant STAD-US 4 166232671 166232671 single base substitution T A downstream_gene_variant STAD-US 4 166232671 166232671 single base substitution T A exon_variant STAD-US 4 166232671 166232671 single base substitution T A synonymous_variant A265A 795T>A STAD-US 4 166232671 166232671 single base substitution T A synonymous_variant A334A 1002T>A STAD-US 4 166232671 166232671 single base substitution T A synonymous_variant A343A 1029T>A STAD-US 4 166232671 166232671 single base substitution T A synonymous_variant A431A 1293T>A STAD-US 4 166232671 166232671 single base substitution T A synonymous_variant A435A 1305T>A STAD-US 4 166238981 166238981 single base substitution T G 3_prime_UTR_variant STAD-US 4 166238981 166238981 single base substitution T G exon_variant STAD-US 4 166238981 166238981 single base substitution T G missense_variant V372G 1115T>G STAD-US 4 166238981 166238981 single base substitution T G missense_variant V441G 1322T>G STAD-US 4 166238981 166238981 single base substitution T G missense_variant V450G 1349T>G STAD-US 4 166238981 166238981 single base substitution T G missense_variant V538G 1613T>G STAD-US 4 166238981 166238981 single base substitution T G missense_variant V542G 1625T>G STAD-US 4 166238988 166238988 single base substitution A G 3_prime_UTR_variant STAD-US 4 166238988 166238988 single base substitution A G exon_variant STAD-US 4 166238988 166238988 single base substitution A G synonymous_variant A374A 1122A>G STAD-US 4 166238988 166238988 single base substitution A G synonymous_variant A443A 1329A>G STAD-US 4 166238988 166238988 single base substitution A G synonymous_variant A452A 1356A>G STAD-US 4 166238988 166238988 single base substitution A G synonymous_variant A540A 1620A>G STAD-US 4 166238988 166238988 single base substitution A G synonymous_variant A544A 1632A>G THCA-SA 4 166199345 166199345 single base substitution C T intron_variant THCA-SA 4 166200903 166200903 single base substitution C T intron_variant THCA-SA 4 166231868 166231868 single base substitution A G 3_prime_UTR_variant THCA-SA 4 166231868 166231868 single base substitution A G exon_variant THCA-SA 4 166231868 166231868 single base substitution A G synonymous_variant L235L 705A>G THCA-SA 4 166231868 166231868 single base substitution A G synonymous_variant L304L 912A>G THCA-SA 4 166231868 166231868 single base substitution A G synonymous_variant L313L 939A>G THCA-SA 4 166231868 166231868 single base substitution A G synonymous_variant L401L 1203A>G THCA-SA 4 166231868 166231868 single base substitution A G synonymous_variant L405L 1215A>G UCEC-US 4 166141126 166141126 single base substitution G T 5_prime_UTR_variant UCEC-US 4 166141126 166141126 single base substitution G T exon_variant UCEC-US 4 166141126 166141126 single base substitution G T missense_variant D23Y 67G>T UCEC-US 4 166141126 166141126 single base substitution G T missense_variant D27Y 79G>T UCEC-US 4 166141126 166141126 single base substitution G T upstream_gene_variant UCEC-US 4 166141163 166141163 single base substitution A T 5_prime_UTR_variant UCEC-US 4 166141163 166141163 single base substitution A T exon_variant UCEC-US 4 166141163 166141163 single base substitution A T missense_variant N35I 104A>T UCEC-US 4 166141163 166141163 single base substitution A T missense_variant N39I 116A>T UCEC-US 4 166150052 166150052 single base substitution T C intron_variant UCEC-US 4 166150052 166150052 single base substitution T C missense_variant M26T 77T>C UCEC-US 4 166150052 166150052 single base substitution T C synonymous_variant H122H 366T>C UCEC-US 4 166150052 166150052 single base substitution T C synonymous_variant H44H 132T>C UCEC-US 4 166150052 166150052 single base substitution T C synonymous_variant H82H 246T>C UCEC-US 4 166150052 166150052 single base substitution T C synonymous_variant H86H 258T>C UCEC-US 4 166160001 166160001 single base substitution A C 3_prime_UTR_variant UCEC-US 4 166160001 166160001 single base substitution A C downstream_gene_variant UCEC-US 4 166160001 166160001 single base substitution A C exon_variant UCEC-US 4 166160001 166160001 single base substitution A C intron_variant UCEC-US 4 166160001 166160001 single base substitution A C missense_variant I111L 331A>C UCEC-US 4 166160001 166160001 single base substitution A C missense_variant I115L 343A>C UCEC-US 4 166160001 166160001 single base substitution A C missense_variant I23L 67A>C UCEC-US 4 166160001 166160001 single base substitution A C missense_variant I73L 217A>C UCEC-US 4 166160001 166160001 single base substitution A C upstream_gene_variant UCEC-US 4 166184481 166184481 single base substitution G A 3_prime_UTR_variant UCEC-US 4 166184481 166184481 single base substitution G A downstream_gene_variant UCEC-US 4 166184481 166184481 single base substitution G A exon_variant UCEC-US 4 166184481 166184481 single base substitution G A intron_variant UCEC-US 4 166184481 166184481 single base substitution G A missense_variant D172N 514G>A UCEC-US 4 166184481 166184481 single base substitution G A missense_variant D176N 526G>A UCEC-US 4 166184481 166184481 single base substitution G A missense_variant D6N 16G>A UCEC-US 4 166184481 166184481 single base substitution G A missense_variant D75N 223G>A UCEC-US 4 166184481 166184481 single base substitution G A missense_variant D84N 250G>A UCEC-US 4 166215609 166215609 single base substitution T G 3_prime_UTR_variant UCEC-US 4 166215609 166215609 single base substitution T G exon_variant UCEC-US 4 166215609 166215609 single base substitution T G missense_variant S118A 352T>G UCEC-US 4 166215609 166215609 single base substitution T G missense_variant S127A 379T>G UCEC-US 4 166215609 166215609 single base substitution T G missense_variant S215A 643T>G UCEC-US 4 166215609 166215609 single base substitution T G missense_variant S219A 655T>G UCEC-US 4 166215609 166215609 single base substitution T G missense_variant S49A 145T>G UCEC-US 4 166220753 166220753 single base substitution G A 3_prime_UTR_variant UCEC-US 4 166220753 166220753 single base substitution G A exon_variant UCEC-US 4 166220753 166220753 single base substitution G A missense_variant R123H 368G>A UCEC-US 4 166220753 166220753 single base substitution G A missense_variant R192H 575G>A UCEC-US 4 166220753 166220753 single base substitution G A missense_variant R201H 602G>A UCEC-US 4 166220753 166220753 single base substitution G A missense_variant R289H 866G>A UCEC-US 4 166220753 166220753 single base substitution G A missense_variant R293H 878G>A UCEC-US 4 166220777 166220777 deletion of <=200bp C - 3_prime_UTR_variant UCEC-US 4 166220777 166220777 deletion of <=200bp C - exon_variant UCEC-US 4 166220777 166220777 deletion of <=200bp C - frameshift_variant T131 UCEC-US 4 166220777 166220777 deletion of <=200bp C - frameshift_variant T200 UCEC-US 4 166220777 166220777 deletion of <=200bp C - frameshift_variant T209 UCEC-US 4 166220777 166220777 deletion of <=200bp C - frameshift_variant T297 UCEC-US 4 166220777 166220777 deletion of <=200bp C - frameshift_variant T301 UCEC-US 4 166226845 166226845 single base substitution T C 3_prime_UTR_variant UCEC-US 4 166226845 166226845 single base substitution T C exon_variant UCEC-US 4 166226845 166226845 single base substitution T C intron_variant UCEC-US 4 166226845 166226845 single base substitution T C missense_variant V170A 509T>C UCEC-US 4 166226845 166226845 single base substitution T C missense_variant V239A 716T>C UCEC-US 4 166226845 166226845 single base substitution T C missense_variant V248A 743T>C UCEC-US 4 166226845 166226845 single base substitution T C missense_variant V336A 1007T>C UCEC-US 4 166226845 166226845 single base substitution T C missense_variant V340A 1019T>C UCEC-US 4 166231874 166231874 single base substitution C T 3_prime_UTR_variant UCEC-US 4 166231874 166231874 single base substitution C T exon_variant UCEC-US 4 166231874 166231874 single base substitution C T synonymous_variant Y237Y 711C>T UCEC-US 4 166231874 166231874 single base substitution C T synonymous_variant Y306Y 918C>T UCEC-US 4 166231874 166231874 single base substitution C T synonymous_variant Y315Y 945C>T UCEC-US 4 166231874 166231874 single base substitution C T synonymous_variant Y403Y 1209C>T UCEC-US 4 166231874 166231874 single base substitution C T synonymous_variant Y407Y 1221C>T UCEC-US 4 166235284 166235284 single base substitution G T 3_prime_UTR_variant UCEC-US 4 166235284 166235284 single base substitution G T downstream_gene_variant UCEC-US 4 166235284 166235284 single base substitution G T exon_variant UCEC-US 4 166235284 166235284 single base substitution G T missense_variant Q359H 1077G>T UCEC-US 4 166235284 166235284 single base substitution G T missense_variant Q428H 1284G>T UCEC-US 4 166235284 166235284 single base substitution G T missense_variant Q437H 1311G>T UCEC-US 4 166235284 166235284 single base substitution G T missense_variant Q525H 1575G>T UCEC-US 4 166235284 166235284 single base substitution G T missense_variant Q529H 1587G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-52-T COSM4540420 c.271G>A p.E91K Substitution - Missense 4:165238789-165238789 + ESCC-D4 COSM5046210 c.1535G>C p.S512T Substitution - Missense 4:165314092-165314092 + TCGA-A5-A0GP-01 COSM207671 c.1209C>T p.Y403Y Substitution - coding silent 4:165310722-165310722 + TCGA-BS-A0UV-01 COSM1052921 c.67G>T p.D23Y Substitution - Missense 4:165219974-165219974 + BD72T COSM3335498 c.339T>C p.Y113Y Substitution - coding silent 4:165238857-165238857 + Pat_41_B COSM5866012 c.1571G>A p.R524K Substitution - Missense 4:165314128-165314128 + SS6003309 COSM3414474 c.23C>T p.P8L Substitution - Missense 4:165207899-165207899 + HT115 COSM3335513 c.1528C>T p.R510* Substitution - Nonsense 4:165314085-165314085 + CHC892T COSM4794447 c.478G>A p.G160R Substitution - Missense 4:165263293-165263293 + 500 COSM5611803 c.649G>A p.E217K Substitution - Missense 4:165294463-165294463 + TCGA-BR-8680-01 COSM4123299 c.97A>G p.T33A Substitution - Missense 4:165220004-165220004 + AOCS-141-3-2 COSM4135481 c.1000C>A p.H334N Substitution - Missense 4:165305686-165305686 + TCGA-D3-A2JO-06 COSM3601680 c.1661C>T p.S554F Substitution - Missense 4:165317877-165317877 + TCGA-CG-5726-01 COSM4123305 c.1212T>C p.A404A Substitution - coding silent 4:165310725-165310725 + CRC-03T COSM5451763 c.335A>T p.D112V Substitution - Missense 4:165238853-165238853 + LUAD-S01315 COSM345605 c.1725G>T p.S575S Substitution - coding silent 4:165317941-165317941 + I2L-P8-Tumor-Biopsy COSM5356256 c.1316G>T p.S439I Substitution - Missense 4:165311542-165311542 + RK042_C01 COSM1633543 c.159delT p.L54fs*36 Deletion - Frameshift 4:165228813-165228813 + tumor_4116738 COSM1161487 c.1580C>A p.A527E Substitution - Missense 4:165314137-165314137 + 585258 COSM321276 c.773G>T p.R258M Substitution - Missense 4:165299508-165299508 + TCGA-EJ-A65F-01 COSM4876776 c.1630C>G p.L544V Substitution - Missense 4:165317846-165317846 + TCGA-NI-A4U2-01 COSM4909703 c.775G>T p.V259F Substitution - Missense 4:165299510-165299510 + T2197 COSM4696478 c.485G>A p.R162Q Substitution - Missense 4:165263300-165263300 + B80-13 COSM1753625 c.244C>A p.H82N Substitution - Missense 4:165228898-165228898 + TCGA-AP-A051-01 COSM1052944 c.1575G>T p.Q525H Substitution - Missense 4:165314132-165314132 + T3091 COSM1052941 c.1103G>A p.R368H Substitution - Missense 4:165310616-165310616 + CHC892T COSM4794447 c.478G>A p.G160R Substitution - Missense 4:165263293-165263293 + ESO-157 COSM1255967 c.1710G>C p.W570C Substitution - Missense 4:165317926-165317926 + TCGA-HU-A4H3-01 COSM4123308 c.1620A>G p.A540A Substitution - coding silent 4:165317836-165317836 + TCGA-DA-A1HY-06 COSM3601678 c.954G>A p.K318K Substitution - coding silent 4:165305640-165305640 + ESO-682 COSM1255968 c.1211C>A p.A404D Substitution - Missense 4:165310724-165310724 + LUAD-E00918 COSM365296 c.165G>T p.L55L Substitution - coding silent 4:165228819-165228819 + SWE-3A COSM5521436 c.961C>A p.R321R Substitution - coding silent 4:165305647-165305647 + LUAD-S01357 COSM387503 c.174C>T p.V58V Substitution - coding silent 4:165228828-165228828 + TCGA-AG-A002-01 COSM261696 c.142G>A p.E48K Substitution - Missense 4:165220049-165220049 + TCGA-D1-A0ZO-01 COSM1052925 c.246T>C p.H82H Substitution - coding silent 4:165228900-165228900 + SNUH_G76_S1 COSM4415656 c.1203A>G p.L401L Substitution - coding silent 4:165310716-165310716 + CSB24 COSM5026242 c.1648G>A p.G550R Substitution - Missense 4:165317864-165317864 + 3584_T COSM3946150 c.1457G>A p.R486Q Substitution - Missense 4:165313355-165313355 + pfg008T COSM1642440 c.1048T>C p.Y350H Substitution - Missense 4:165310561-165310561 + Pat_32_B COSM5866011 c.1232G>A p.S411N Substitution - Missense 4:165310745-165310745 + TCGA-B5-A0K3-01 COSM1052929 c.388C>T p.L130F Substitution - Missense 4:165263203-165263203 + TCGA-18-3412-01 COSM733186 c.597C>G p.I199M Substitution - Missense 4:165294411-165294411 + TCGA-ED-A66Y-01 COSM4123308 c.1620A>G p.A540A Substitution - coding silent 4:165317836-165317836 + 587340 COSM1212619 c.1753G>A p.G585R Substitution - Missense 4:165317969-165317969 + LS174T COSM4646102 c.1277A>G p.E426G Substitution - Missense 4:165311503-165311503 + TCGA-B5-A11E-01 COSM1052931 c.514G>A p.D172N Substitution - Missense 4:165263329-165263329 + TCGA-BT-A0YX-01 COSM420128 c.876G>T p.M292I Substitution - Missense 4:165299611-165299611 + TCGA-AX-A0J1-01 COSM1052935 c.866G>A p.R289H Substitution - Missense 4:165299601-165299601 + TCGA-CH-5737-01 COSM1131189 c.712A>C p.M238L Substitution - Missense 4:165297666-165297666 + TCGA-AN-A0AK-01 COSM3825495 c.347C>T p.T116I Substitution - Missense 4:165238865-165238865 + I2L-P8-Tumor-Organoid COSM5356256 c.1316G>T p.S439I Substitution - Missense 4:165311542-165311542 + LIM2405 COSM4642872 c.1382A>T p.Q461L Substitution - Missense 4:165313280-165313280 + BD165T COSM3335498 c.339T>C p.Y113Y Substitution - coding silent 4:165238857-165238857 + STC263 COSM5060221 c.399T>A p.A133A Substitution - coding silent 4:165263214-165263214 + TCGA-BR-7958-01 COSM4123303 c.728A>T p.E243V Substitution - Missense 4:165297682-165297682 + pfg092T COSM4763357 c.707A>T p.E236V Substitution - Missense 4:165297661-165297661 + S02209 COSM5675353 c.25G>T p.A9S Substitution - Missense 4:165207901-165207901 + tumor_4175837 COSM207670 c.1146C>T p.S382S Substitution - coding silent 4:165310659-165310659 + C135 COSM4618404 c.814A>G p.K272E Substitution - Missense 4:165299549-165299549 + ACINAR14 COSM1733540 c.587A>G p.N196S Substitution - Missense 4:165294401-165294401 + T3202 COSM3335498 c.339T>C p.Y113Y Substitution - coding silent 4:165238857-165238857 + TCGA-EI-6917-01 COSM1212618 c.1102C>T p.R368C Substitution - Missense 4:165310615-165310615 + TCGA-EE-A2MR-06 COSM3601679 c.1292C>T p.A431V Substitution - Missense 4:165311518-165311518 + C547 COSM3946150 c.1457G>A p.R486Q Substitution - Missense 4:165313355-165313355 + TCGA-BS-A0UV-01 COSM1052927 c.331A>C p.I111L Substitution - Missense 4:165238849-165238849 + ESCC-078T COSM3940796 c.924G>A p.L308L Substitution - coding silent 4:165305610-165305610 + AOCS-141-8-0 COSM4135481 c.1000C>A p.H334N Substitution - Missense 4:165305686-165305686 + CHEWS031 COSM4584896 c.1778T>A p.L593* Substitution - Nonsense 4:165322056-165322056 + TCGA-BS-A0UJ-01 COSM1052933 c.643T>G p.S215A Substitution - Missense 4:165294457-165294457 + 16461 COSM5615393 c.917C>G p.P306R Substitution - Missense 4:165299652-165299652 + TCGA-DD-A4NQ-01 COSM4941029 c.170A>T p.D57V Substitution - Missense 4:165228824-165228824 + TCGA-AA-A010-01 COSM282276 c.1247C>T p.S416F Substitution - Missense 4:165311473-165311473 + 37M COSM5583683 c.1321G>A p.G441S Substitution - Missense 4:165311547-165311547 + LP6005500-DNA_F02 COSM5037015 c.1271C>T p.S424F Substitution - Missense 4:165311497-165311497 + TCGA-BR-6452-01 COSM4123306 c.1293T>A p.A431A Substitution - coding silent 4:165311519-165311519 + TCGA-AX-A063-01 COSM1052923 c.104A>T p.N35I Substitution - Missense 4:165220011-165220011 + T2269 COSM1212618 c.1102C>T p.R368C Substitution - Missense 4:165310615-165310615 + 4_RESISTANT COSM1724560 c.1717G>T p.V573L Substitution - Missense 4:165317933-165317933 + TCGA-EJ-7115-01 COSM1471731 c.1468+2T>C p.? Unknown 4:165313368-165313368 + CSCC-27-T COSM4463806 c.1294C>T p.P432S Substitution - Missense 4:165311520-165311520 + CSCC-7-T COSM4513171 c.917C>T p.P306L Substitution - Missense 4:165299652-165299652 + Pat_28_B COSM5866010 c.1111G>A p.D371N Substitution - Missense 4:165310624-165310624 + TCGA-D1-A17U-01 COSM1052937 c.890delC p.R298fs*2 Deletion - Frameshift 4:165299625-165299625 + TCGA-C5-A1BK-01 COSM4826210 c.1513G>C p.D505H Substitution - Missense 4:165314070-165314070 + pfg008T COSM1642440 c.1048T>C p.Y350H Substitution - Missense 4:165310561-165310561 + ATL026 COSM5709152 c.1295C>T p.P432L Substitution - Missense 4:165311521-165311521 + I2L-P19Ta-Tumor-Biopsy COSM3335498 c.339T>C p.Y113Y Substitution - coding silent 4:165238857-165238857 + BD189T COSM5508325 c.10C>T p.P4S Substitution - Missense 4:165207886-165207886 + SW48 COSM3335502 c.561T>G p.D187E Substitution - Missense 4:165294375-165294375 + TCGA-AB-2881-03 COSM1319364 c.1483A>T p.N495Y Substitution - Missense 4:165314040-165314040 + SKCO-1 COSM3335506 c.969G>T p.V323V Substitution - coding silent 4:165305655-165305655 + SNU-175 COSM3335504 c.865C>T p.R289C Substitution - Missense 4:165299600-165299600 + TCGA-B5-A11E-01 COSM1052939 c.1007T>C p.V336A Substitution - Missense 4:165305693-165305693 + SNUH_G73_S1 COSM4415656 c.1203A>G p.L401L Substitution - coding silent 4:165310716-165310716 + Pat_34_A COSM5866009 c.871T>A p.L291I Substitution - Missense 4:165299606-165299606 + TCGA-BR-4201-01 COSM4123301 c.642T>G p.S214S Substitution - coding silent 4:165294456-165294456 + TCGA-B5-A0JV-01 COSM1052941 c.1103G>A p.R368H Substitution - Missense 4:165310616-165310616 + pfg092T COSM4763356 c.706G>T p.E236* Substitution - Nonsense 4:165297660-165297660 + I2L-P19Ta-Tumor-Organoid COSM5355915 c.693G>T p.K231N Substitution - Missense 4:165297647-165297647 + TCGA-BR-8680-01 COSM282276 c.1247C>T p.S416F Substitution - Missense 4:165311473-165311473 + B80-13-Tumor COSM1753625 c.244C>A p.H82N Substitution - Missense 4:165228898-165228898 + TCGA-C5-A1MK-01 COSM4826948 c.1158G>A p.M386I Substitution - Missense 4:165310671-165310671 + AOCS-125-1-2 COSM4135482 c.1300A>G p.N434D Substitution - Missense 4:165311526-165311526 + A3 COSM5351070 c.1039+6C>T p.? Unknown 4:165305731-165305731 + ESCC_170 COSM5649503 c.879G>C p.K293N Substitution - Missense 4:165299614-165299614 + TCGA-RP-A693-06 COSM4895941 c.737G>A p.R246Q Substitution - Missense 4:165297691-165297691 + TCGA-BR-4292-01 COSM4123307 c.1613T>G p.V538G Substitution - Missense 4:165317829-165317829 + I2L-P19Ta-Tumor-Biopsy COSM5355915 c.693G>T p.K231N Substitution - Missense 4:165297647-165297647 + LC_S25 COSM1186692 c.1501G>C p.V501L Substitution - Missense 4:165314058-165314058 + YUDEDE COSM1695209 c.1724C>T p.S575L Substitution - Missense 4:165317940-165317940 + TCGA-EK-A3GK-01 COSM4853248 c.1225G>C p.D409H Substitution - Missense 4:165310738-165310738 + 19M COSM5578841 c.762T>A p.Y254* Substitution - Nonsense 4:165297716-165297716 + ESCC-F83 COSM5048780 c.704delA p.E236fs*6 Deletion - Frameshift 4:165297658-165297658 + YUZINO COSM1695208 c.1161A>C p.R387S Substitution - Missense 4:165310674-165310674 + TCGA-CG-5721-01 COSM4123300 c.378A>G p.V126V Substitution - coding silent 4:165238896-165238896 + 587302 COSM1212618 c.1102C>T p.R368C Substitution - Missense 4:165310615-165310615 + TCGA-CG-4442-01 COSM4123304 c.1204T>C p.L402L Substitution - coding silent 4:165310717-165310717 + pfg008T COSM4763353 c.259+2T>C p.? Unknown 4:165228915-165228915 + TCGA-CG-4442-01 COSM4123302 c.718C>T p.R240* Substitution - Nonsense 4:165297672-165297672 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.388668 4q21.2 605774

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.M242L c.724A>C 4 166218818 PRAD A - Frameshift p.E565Nfs*17 c.1692delA 4 166239048 RCCC A G Synonymous p.E151E c.453A>G 4 166184408 HNSC A T Missense p.N39I c.116A>T 4 166141163 UCEC A T Missense p.N499Y c.1495A>T 4 166235192 AML - ATTTTTTT IntronicInsertion . c.394-1850_394-1849insATTTTTTT 4 166182499 CLL C A IntronicSNV . c.556+15474C>A 4 166199985 CM C A Missense p.A408D c.1223C>A 4 166231876 ESCA C A Missense p.A531E c.1592C>A 4 166235289 DLBCL C A Missense p.T439K c.1316C>A 4 166232682 CM C - Frameshift p.R302Gfs*2 c.904delC 4 166220777 UCEC C G Missense p.I203M c.609C>G 4 166215563 LUSC C G Missense p.L548V c.1642C>G 4 166238998 PRAD C G Missense p.P310R c.929C>G 4 166220804 NSCLC C G Missense p.T385S c.1154C>G 4 166231807 COREAD C T IntronicSNV . c.556+14483C>T 4 166198994 CM C T IntronicSNV . c.556+15217C>T 4 166199728 CM C T IntronicSNV . c.556+15311C>T 4 166199822 ESCA C T IntronicSNV . c.557-15066C>T 4 166200445 CM C T Missense p.R293C c.877C>T 4 166220752 STAD C T Missense p.S558F c.1673C>T 4 166239029 CM C T Nonsense p.Q124* c.370C>T 4 166160028 LUAD C T Synonymous p.S386S c.1158C>T 4 166231811 DLBCL C T Synonymous p.Y377Y c.1131C>T 4 166231784 HNSC C T Synonymous p.Y407Y c.1221C>T 4 166231874 UCEC G A IntronicSNV . c.272-3605G>A 4 166156325 CLL G A IntronicSNV . c.557-14765G>A 4 166200746 CM G A Missense p.G554R c.1660G>A 4 166239016 BRCA G A Synonymous p.K322K c.966G>A 4 166226792 CM G C Missense p.W574C c.1722G>C 4 166239078 ESCA G T Missense p.D61Y c.181G>T 4 166149975 CM G T Missense p.G367V c.1100G>T 4 166231753 LUAD G T Missense p.G547C c.1639G>T 4 166238995 HNSC G T Missense p.M296I c.888G>T 4 166220763 BLCA G T Missense p.R262M c.785G>T 4 166220660 SCLC G T SpliceAcceptorSNV . c.1052-1G>T 4 166231704 LUAD T C Missense p.Y354H c.1060T>C 4 166231713 STAD T C SpliceDonorSNV . c.1480+2T>C 4 166234520 PRAD T C Synonymous p.A408A c.1224T>C 4 166231877 STAD T C Synonymous p.H86H c.258T>C 4 166150052 UCEC T C Synonymous p.N438N c.1314T>C 4 166232680 HNSC T - Frameshift p.N57Ifs*37 c.170delA 4 166149964 HC T G Missense p.V542G c.1625T>G 4 166238981 STAD T G Synonymous p.S218S c.654T>G 4 166215608 STAD