Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 6 125404012 125404012 + Missense_Mutation SNP T T G TCGA-OR-A5K5-01A-11D-A29I-10 TCGA-OR-A5K5-10A-01D-A29L-10 g.chr6:125404012T>G c.1558T>G c.(1558-1560)Tta>Gta p.L520V BLCA 6 125366487 125366487 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 g.chr6:125366487G>A c.1013G>A c.(1012-1014)cGt>cAt p.R338H BLCA 6 125379145 125379145 + Missense_Mutation SNP G G A TCGA-2F-A9KT-01A-11D-A38G-08 TCGA-2F-A9KT-10A-01D-A38J-08 g.chr6:125379145G>A c.1174G>A c.(1174-1176)Gaa>Aaa p.E392K BLCA 6 125379252 125379252 + Splice_Site SNP G G A TCGA-UY-A9PE-01A-11D-A38G-08 TCGA-UY-A9PE-10A-01D-A38J-08 g.chr6:125379252G>A c.1281G>A c.(1279-1281)aaG>aaA p.K427K BRCA 6 125366417 125366417 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr6:125366417G>A c.943G>A c.(943-945)Gaa>Aaa p.E315K BRCA 6 125379112 125379112 + Missense_Mutation SNP G G T TCGA-GM-A2DH-01A-11D-A17W-09 TCGA-GM-A2DH-10C-01D-A17W-09 g.chr6:125379112G>T c.1141G>T c.(1141-1143)Gtc>Ttc p.V381F BRCA 6 125397899 125397899 + Nonsense_Mutation SNP C C T TCGA-B6-A0X4-01A-11D-A10G-09 TCGA-B6-A0X4-10A-01D-A10G-09 g.chr6:125397899C>T c.1378C>T c.(1378-1380)Cga>Tga p.R460* CESC 6 125379248 125379248 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 g.chr6:125379248G>A c.1277G>A c.(1276-1278)tGc>tAc p.C426Y CESC 6 125404041 125404042 + Frame_Shift_Ins INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr6:125404041_125404042insA c.1587_1588insA c.(1588-1590)aaafs p.K530fs COAD 6 125379202 125379202 + Missense_Mutation SNP A A C TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr6:125379202A>C c.1231A>C c.(1231-1233)Agc>Cgc p.S411R COAD 6 125397873 125397873 + Missense_Mutation SNP G G A TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr6:125397873G>A c.1352G>A c.(1351-1353)cGa>cAa p.R451Q COAD 6 125397989 125397989 + Nonsense_Mutation SNP C C T TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr6:125397989C>T c.1468C>T c.(1468-1470)Cga>Tga p.R490* COAD 6 125404022 125404022 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:125404022T>G c.1568T>G c.(1567-1569)tTt>tGt p.F523C COADREAD 6 125379202 125379202 + Missense_Mutation SNP A A C TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr6:125379202A>C c.1231A>C c.(1231-1233)Agc>Cgc p.S411R COADREAD 6 125397873 125397873 + Missense_Mutation SNP G G A TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr6:125397873G>A c.1352G>A c.(1351-1353)cGa>cAa p.R451Q COADREAD 6 125397989 125397989 + Nonsense_Mutation SNP C C T TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr6:125397989C>T c.1468C>T c.(1468-1470)Cga>Tga p.R490* COADREAD 6 125404022 125404022 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:125404022T>G c.1568T>G c.(1567-1569)tTt>tGt p.F523C DLBC 6 125397811 125397811 + Silent SNP C C T TCGA-GS-A9TY-01A-11D-A38X-10 TCGA-GS-A9TY-10A-01D-A38X-10 g.chr6:125397811C>T c.1290C>T c.(1288-1290)atC>atT p.I430I ESCA 6 125397905 125397905 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 g.chr6:125397905T>G c.1384T>G c.(1384-1386)Ttt>Gtt p.F462V GBM 6 125379096 125379096 + Silent SNP C C T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 g.chr6:125379096C>T c.1125C>T c.(1123-1125)tgC>tgT p.C375C GBMLGG 6 125379096 125379096 + Silent SNP C C T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 g.chr6:125379096C>T c.1125C>T c.(1123-1125)tgC>tgT p.C375C HNSC 6 125379204 125379204 + Silent SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 g.chr6:125379204C>T c.1233C>T c.(1231-1233)agC>agT p.S411S KIPAN 6 125366368 125366368 + Silent SNP C C G TCGA-CZ-4854-01A-01D-1373-10 TCGA-CZ-4854-11A-01D-1373-10 g.chr6:125366368C>G c.894C>G c.(892-894)ggC>ggG p.G298G KIPAN 6 125397823 125397823 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr6:125397823A>G c.1302A>G c.(1300-1302)gaA>gaG p.E434E KIRC 6 125366368 125366368 + Silent SNP C C G TCGA-CZ-4854-01A-01D-1373-10 TCGA-CZ-4854-11A-01D-1373-10 g.chr6:125366368C>G c.894C>G c.(892-894)ggC>ggG p.G298G KIRC 6 125397823 125397823 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr6:125397823A>G c.1302A>G c.(1300-1302)gaA>gaG p.E434E LIHC 6 125402633 125402633 + Missense_Mutation SNP G G T TCGA-DD-A113-01A-11D-A12Z-10 TCGA-DD-A113-10A-01D-A12Z-10 g.chr6:125402633G>T c.1535G>T c.(1534-1536)gGg>gTg p.G512V LUAD 6 125366429 125366429 + Missense_Mutation SNP G G T TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chr6:125366429G>T c.955G>T c.(955-957)Gtc>Ttc p.V319F LUAD 6 125397805 125397805 + Silent SNP C C A TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr6:125397805C>A c.1284C>A c.(1282-1284)atC>atA p.I428I LUAD 6 125404010 125404010 + Splice_Site SNP G G T TCGA-64-5779-01A-01D-1625-08 TCGA-64-5779-10A-01D-1625-08 g.chr6:125404010G>T c.1556G>T c.(1555-1557)gGt>gTt p.G519V SKCM 6 125379091 125379091 + Nonsense_Mutation SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr6:125379091C>T c.1120C>T c.(1120-1122)Cag>Tag p.Q374* SKCM 6 125397890 125397890 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr6:125397890C>T c.1369C>T c.(1369-1371)Cgc>Tgc p.R457C SKCM 6 125397950 125397950 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr6:125397950C>T c.1429C>T c.(1429-1431)Cgc>Tgc p.R477C SKCM 6 125397950 125397950 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr6:125397950C>T c.1429C>T c.(1429-1431)Cgc>Tgc p.R477C SKCM 6 125397950 125397950 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr6:125397950C>T c.1429C>T c.(1429-1431)Cgc>Tgc p.R477C SKCM 6 125397960 125397960 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr6:125397960C>T c.1439C>T c.(1438-1440)cCa>cTa p.P480L SKCM 6 125397990 125397990 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr6:125397990G>A c.1469G>A c.(1468-1470)cGa>cAa p.R490Q SKCM 6 125403600 125403600 + Intron SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr6:125403600G>A SKCM 6 125404012 125404012 + Missense_Mutation SNP T T A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr6:125404012T>A c.1558T>A c.(1558-1560)Tta>Ata p.L520I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 6 125278730 125278753 multiple base substitution (>=2bp and <=200bp) CCTGTTTGCAATATTTAAAAATAA CAAGAAG upstream_gene_variant BRCA-EU 6 125279078 125279078 single base substitution A G upstream_gene_variant BRCA-EU 6 125280164 125280215 deletion of <=200bp ATAACAAAAGGTGGCCAGGATGCATAGAAGAGGGAAATTTTATACACTCTTG - upstream_gene_variant BRCA-EU 6 125280741 125280741 single base substitution C G upstream_gene_variant BRCA-EU 6 125281599 125281599 single base substitution G A upstream_gene_variant BRCA-EU 6 125282868 125282868 single base substitution C G upstream_gene_variant BRCA-EU 6 125283680 125283680 single base substitution C A upstream_gene_variant BRCA-EU 6 125284444 125284444 single base substitution G T exon_variant BRCA-EU 6 125284444 125284444 single base substitution G T missense_variant G17W 49G>T BRCA-EU 6 125284444 125284444 single base substitution G T missense_variant G252W 754G>T BRCA-EU 6 125284444 125284444 single base substitution G T upstream_gene_variant BRCA-EU 6 125285315 125285315 single base substitution C G intron_variant BRCA-EU 6 125289711 125289711 single base substitution G C intron_variant BRCA-EU 6 125289711 125289711 single base substitution G C upstream_gene_variant BRCA-EU 6 125289949 125289949 single base substitution T C intron_variant BRCA-EU 6 125289949 125289949 single base substitution T C upstream_gene_variant BRCA-EU 6 125290647 125290647 single base substitution C G intron_variant BRCA-EU 6 125290647 125290647 single base substitution C G upstream_gene_variant BRCA-EU 6 125293012 125293012 single base substitution T C downstream_gene_variant BRCA-EU 6 125293012 125293012 single base substitution T C intron_variant BRCA-EU 6 125294967 125294967 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 125294967 125294967 deletion of <=200bp A - intron_variant BRCA-EU 6 125296575 125296575 single base substitution G A downstream_gene_variant BRCA-EU 6 125296575 125296575 single base substitution G A intron_variant BRCA-EU 6 125297325 125297325 deletion of <=200bp T - downstream_gene_variant BRCA-EU 6 125297325 125297325 deletion of <=200bp T - intron_variant BRCA-EU 6 125298029 125298030 deletion of <=200bp CT - intron_variant BRCA-EU 6 125298310 125298310 single base substitution A G intron_variant BRCA-EU 6 125299061 125299061 single base substitution A G intron_variant BRCA-EU 6 125299232 125299232 single base substitution G C intron_variant BRCA-EU 6 125300199 125300199 single base substitution A T intron_variant BRCA-EU 6 125300199 125300199 single base substitution A T upstream_gene_variant BRCA-EU 6 125300450 125300450 deletion of <=200bp A - intron_variant BRCA-EU 6 125300450 125300450 deletion of <=200bp A - upstream_gene_variant BRCA-EU 6 125301305 125301305 single base substitution G C intron_variant BRCA-EU 6 125301305 125301305 single base substitution G C upstream_gene_variant BRCA-EU 6 125301810 125301810 single base substitution G C intron_variant BRCA-EU 6 125301810 125301810 single base substitution G C upstream_gene_variant BRCA-EU 6 125303028 125303028 single base substitution G A intron_variant BRCA-EU 6 125303028 125303028 single base substitution G A upstream_gene_variant BRCA-EU 6 125303363 125303363 single base substitution C T intron_variant BRCA-EU 6 125303363 125303363 single base substitution C T upstream_gene_variant BRCA-EU 6 125305202 125305202 single base substitution G T intron_variant BRCA-EU 6 125305437 125305437 single base substitution A G intron_variant BRCA-EU 6 125306527 125306529 deletion of <=200bp TAA - intron_variant BRCA-EU 6 125307734 125307734 single base substitution G A intron_variant BRCA-EU 6 125309730 125309730 single base substitution T G intron_variant BRCA-EU 6 125309951 125309951 single base substitution C G intron_variant BRCA-EU 6 125313824 125313824 single base substitution G C intron_variant BRCA-EU 6 125313895 125313895 insertion of <=200bp - T intron_variant BRCA-EU 6 125314146 125314146 single base substitution G C intron_variant BRCA-EU 6 125315275 125315275 insertion of <=200bp - A intron_variant BRCA-EU 6 125315509 125315509 single base substitution A T intron_variant BRCA-EU 6 125316065 125316065 single base substitution C G intron_variant BRCA-EU 6 125316818 125316818 single base substitution A C intron_variant BRCA-EU 6 125318134 125318134 single base substitution C A intron_variant BRCA-EU 6 125319623 125319623 deletion of <=200bp T - intron_variant BRCA-EU 6 125320605 125320605 single base substitution T G intron_variant BRCA-EU 6 125320937 125320937 deletion of <=200bp A - intron_variant BRCA-EU 6 125321289 125321289 deletion of <=200bp T - intron_variant BRCA-EU 6 125322463 125322475 deletion of <=200bp ATTCTTAGAGGCT - intron_variant BRCA-EU 6 125325975 125325975 single base substitution G C intron_variant BRCA-EU 6 125325975 125325975 single base substitution G C upstream_gene_variant BRCA-EU 6 125327749 125327749 single base substitution C T intron_variant BRCA-EU 6 125327749 125327749 single base substitution C T upstream_gene_variant BRCA-EU 6 125327953 125327953 single base substitution G C intron_variant BRCA-EU 6 125327953 125327953 single base substitution G C upstream_gene_variant BRCA-EU 6 125328060 125328060 single base substitution G A intron_variant BRCA-EU 6 125328060 125328060 single base substitution G A upstream_gene_variant BRCA-EU 6 125328966 125328966 single base substitution C G intron_variant BRCA-EU 6 125328966 125328966 single base substitution C G upstream_gene_variant BRCA-EU 6 125330034 125330034 single base substitution A T exon_variant BRCA-EU 6 125330034 125330034 single base substitution A T intron_variant BRCA-EU 6 125330948 125330948 single base substitution T C downstream_gene_variant BRCA-EU 6 125330948 125330948 single base substitution T C intron_variant BRCA-EU 6 125332782 125332782 single base substitution T C downstream_gene_variant BRCA-EU 6 125332782 125332782 single base substitution T C intron_variant BRCA-EU 6 125334782 125334782 single base substitution C T downstream_gene_variant BRCA-EU 6 125334782 125334782 single base substitution C T intron_variant BRCA-EU 6 125335433 125335433 single base substitution T C downstream_gene_variant BRCA-EU 6 125335433 125335433 single base substitution T C intron_variant BRCA-EU 6 125336060 125336060 single base substitution C A intron_variant BRCA-EU 6 125337482 125337482 single base substitution G C intron_variant BRCA-EU 6 125339731 125339731 deletion of <=200bp A - intron_variant BRCA-EU 6 125339756 125339756 single base substitution G T intron_variant BRCA-EU 6 125342329 125342329 single base substitution G C intron_variant BRCA-EU 6 125342540 125342540 single base substitution T C intron_variant BRCA-EU 6 125345662 125345662 single base substitution G A intron_variant BRCA-EU 6 125346353 125346353 single base substitution G C intron_variant BRCA-EU 6 125346467 125346475 deletion of <=200bp GGACAGATG - intron_variant BRCA-EU 6 125346767 125346767 single base substitution G A intron_variant BRCA-EU 6 125347116 125347116 single base substitution G C intron_variant BRCA-EU 6 125351245 125351245 single base substitution T G intron_variant BRCA-EU 6 125351696 125351696 single base substitution G A intron_variant BRCA-EU 6 125352248 125352248 single base substitution T G intron_variant BRCA-EU 6 125352465 125352465 single base substitution A T intron_variant BRCA-EU 6 125352601 125352601 single base substitution G A intron_variant BRCA-EU 6 125352891 125352891 single base substitution A C intron_variant BRCA-EU 6 125353967 125353967 single base substitution T C intron_variant BRCA-EU 6 125354297 125354297 single base substitution G C intron_variant BRCA-EU 6 125357676 125357676 single base substitution A G intron_variant BRCA-EU 6 125358985 125358985 single base substitution G C intron_variant BRCA-EU 6 125359876 125359876 single base substitution T C intron_variant BRCA-EU 6 125359966 125359966 single base substitution G A intron_variant BRCA-EU 6 125360207 125360207 single base substitution T G intron_variant BRCA-EU 6 125360265 125360265 single base substitution C T intron_variant BRCA-EU 6 125360277 125360277 single base substitution G A intron_variant BRCA-EU 6 125360278 125360278 single base substitution A G intron_variant BRCA-EU 6 125360310 125360310 single base substitution T C intron_variant BRCA-EU 6 125360375 125360375 deletion of <=200bp T - intron_variant BRCA-EU 6 125360476 125360476 single base substitution A G intron_variant BRCA-EU 6 125361862 125361862 single base substitution C A intron_variant BRCA-EU 6 125361862 125361862 single base substitution C A upstream_gene_variant BRCA-EU 6 125362494 125362494 single base substitution A T intron_variant BRCA-EU 6 125362494 125362494 single base substitution A T upstream_gene_variant BRCA-EU 6 125363102 125363102 single base substitution C G intron_variant BRCA-EU 6 125363102 125363102 single base substitution C G upstream_gene_variant BRCA-EU 6 125363327 125363327 single base substitution G C intron_variant BRCA-EU 6 125363327 125363327 single base substitution G C upstream_gene_variant BRCA-EU 6 125363859 125363859 single base substitution C T intron_variant BRCA-EU 6 125363859 125363859 single base substitution C T upstream_gene_variant BRCA-EU 6 125364854 125364854 single base substitution A G intron_variant BRCA-EU 6 125364854 125364854 single base substitution A G upstream_gene_variant BRCA-EU 6 125367808 125367808 single base substitution G T downstream_gene_variant BRCA-EU 6 125367808 125367808 single base substitution G T intron_variant BRCA-EU 6 125367808 125367808 single base substitution G T splice_donor_variant BRCA-EU 6 125367808 125367808 single base substitution G T upstream_gene_variant BRCA-EU 6 125368914 125368914 single base substitution G C downstream_gene_variant BRCA-EU 6 125368914 125368914 single base substitution G C intron_variant BRCA-EU 6 125368914 125368914 single base substitution G C upstream_gene_variant BRCA-EU 6 125369502 125369502 single base substitution G C downstream_gene_variant BRCA-EU 6 125369502 125369502 single base substitution G C intron_variant BRCA-EU 6 125369608 125369608 single base substitution C G downstream_gene_variant BRCA-EU 6 125369608 125369608 single base substitution C G intron_variant BRCA-EU 6 125370430 125370430 single base substitution A G downstream_gene_variant BRCA-EU 6 125370430 125370430 single base substitution A G intron_variant BRCA-EU 6 125370464 125370464 single base substitution A T downstream_gene_variant BRCA-EU 6 125370464 125370464 single base substitution A T intron_variant BRCA-EU 6 125371168 125371168 single base substitution C T downstream_gene_variant BRCA-EU 6 125371168 125371168 single base substitution C T intron_variant BRCA-EU 6 125371583 125371583 single base substitution T A intron_variant BRCA-EU 6 125374081 125374081 single base substitution C G intron_variant BRCA-EU 6 125377120 125377120 deletion of <=200bp T - intron_variant BRCA-EU 6 125379111 125379111 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 125379111 125379111 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 6 125379111 125379111 single base substitution C T exon_variant BRCA-EU 6 125379111 125379111 single base substitution C T synonymous_variant F145F 435C>T BRCA-EU 6 125379111 125379111 single base substitution C T synonymous_variant F24F 72C>T BRCA-EU 6 125379111 125379111 single base substitution C T synonymous_variant F380F 1140C>T BRCA-EU 6 125379111 125379111 single base substitution C T synonymous_variant F88F 264C>T BRCA-EU 6 125379880 125379880 single base substitution G T intron_variant BRCA-EU 6 125381203 125381203 single base substitution G C intron_variant BRCA-EU 6 125381866 125381866 single base substitution C T intron_variant BRCA-EU 6 125382137 125382137 single base substitution G C intron_variant BRCA-EU 6 125382776 125382776 insertion of <=200bp - T intron_variant BRCA-EU 6 125383062 125383062 single base substitution T C intron_variant BRCA-EU 6 125383919 125383919 single base substitution C T intron_variant BRCA-EU 6 125385989 125385990 deletion of <=200bp TA - intron_variant BRCA-EU 6 125386192 125386192 single base substitution C T intron_variant BRCA-EU 6 125387500 125387500 single base substitution C T intron_variant BRCA-EU 6 125387592 125387592 single base substitution C G intron_variant BRCA-EU 6 125387774 125387774 single base substitution C G intron_variant BRCA-EU 6 125388807 125388807 single base substitution G A intron_variant BRCA-EU 6 125389339 125389339 single base substitution G A intron_variant BRCA-EU 6 125389462 125389462 single base substitution T C intron_variant BRCA-EU 6 125389564 125389564 single base substitution A G intron_variant BRCA-EU 6 125389583 125389583 single base substitution C T intron_variant BRCA-EU 6 125389935 125389935 single base substitution C T intron_variant BRCA-EU 6 125391508 125391508 single base substitution T C intron_variant BRCA-EU 6 125391545 125391545 single base substitution G A intron_variant BRCA-EU 6 125392404 125392404 single base substitution A C intron_variant BRCA-EU 6 125393425 125393425 single base substitution T C intron_variant BRCA-EU 6 125393510 125393510 single base substitution T C intron_variant BRCA-EU 6 125396377 125396377 single base substitution G A intron_variant BRCA-EU 6 125397796 125397796 single base substitution G C intron_variant BRCA-EU 6 125397796 125397796 single base substitution G C splice_region_variant BRCA-EU 6 125398046 125398060 deletion of <=200bp AAGTAGTGAAAATAG - downstream_gene_variant BRCA-EU 6 125398046 125398060 deletion of <=200bp AAGTAGTGAAAATAG - intron_variant BRCA-EU 6 125398540 125398540 single base substitution G A downstream_gene_variant BRCA-EU 6 125398540 125398540 single base substitution G A intron_variant BRCA-EU 6 125401288 125401288 single base substitution A G downstream_gene_variant BRCA-EU 6 125401288 125401288 single base substitution A G intron_variant BRCA-EU 6 125401832 125401832 single base substitution G C downstream_gene_variant BRCA-EU 6 125401832 125401832 single base substitution G C intron_variant BRCA-EU 6 125402304 125402304 single base substitution G C downstream_gene_variant BRCA-EU 6 125402304 125402304 single base substitution G C intron_variant BRCA-EU 6 125402845 125402845 single base substitution A T downstream_gene_variant BRCA-EU 6 125402845 125402845 single base substitution A T intron_variant BRCA-EU 6 125402903 125402903 single base substitution T C downstream_gene_variant BRCA-EU 6 125402903 125402903 single base substitution T C intron_variant BRCA-EU 6 125403501 125403501 single base substitution C T intron_variant BRCA-EU 6 125403950 125403950 insertion of <=200bp - A intron_variant BRCA-EU 6 125404937 125404937 single base substitution A T 3_prime_UTR_variant BRCA-EU 6 125404937 125404937 single base substitution A T downstream_gene_variant BRCA-EU 6 125405554 125405554 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 6 125405554 125405554 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 125406063 125406063 single base substitution G C 3_prime_UTR_variant BRCA-EU 6 125406063 125406063 single base substitution G C downstream_gene_variant BRCA-EU 6 125406504 125406515 deletion of <=200bp ATTAACATACAC - 3_prime_UTR_variant BRCA-EU 6 125406504 125406515 deletion of <=200bp ATTAACATACAC - downstream_gene_variant BRCA-EU 6 125407456 125407456 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 6 125407456 125407456 deletion of <=200bp T - downstream_gene_variant BRCA-EU 6 125407666 125407666 single base substitution T C 3_prime_UTR_variant BRCA-EU 6 125407666 125407666 single base substitution T C downstream_gene_variant BRCA-EU 6 125407712 125407712 single base substitution G C 3_prime_UTR_variant BRCA-EU 6 125407712 125407712 single base substitution G C downstream_gene_variant BRCA-EU 6 125407767 125407767 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 125407767 125407767 single base substitution G A downstream_gene_variant BRCA-EU 6 125407912 125407912 single base substitution A C 3_prime_UTR_variant BRCA-EU 6 125407912 125407912 single base substitution A C downstream_gene_variant BRCA-EU 6 125409062 125409062 single base substitution T G 3_prime_UTR_variant BRCA-EU 6 125409062 125409062 single base substitution T G downstream_gene_variant BRCA-EU 6 125410216 125410216 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 6 125410713 125410713 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 125410723 125410723 single base substitution G C 3_prime_UTR_variant BRCA-EU 6 125411349 125411349 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 125412173 125412173 single base substitution G C 3_prime_UTR_variant BRCA-EU 6 125412262 125412262 single base substitution C G 3_prime_UTR_variant BRCA-EU 6 125413274 125413274 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 125413353 125413353 single base substitution G C 3_prime_UTR_variant BRCA-EU 6 125413814 125413814 single base substitution A T downstream_gene_variant BRCA-EU 6 125413827 125413827 single base substitution T C downstream_gene_variant BRCA-EU 6 125414825 125414825 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 125414833 125414833 single base substitution A G downstream_gene_variant BRCA-EU 6 125414920 125414920 single base substitution C G downstream_gene_variant BRCA-EU 6 125415864 125415864 single base substitution G A downstream_gene_variant BRCA-EU 6 125415867 125415867 single base substitution T G downstream_gene_variant BRCA-EU 6 125417016 125417016 single base substitution C T downstream_gene_variant BRCA-FR 6 125280741 125280741 single base substitution C G upstream_gene_variant BRCA-FR 6 125299232 125299232 single base substitution G C intron_variant BRCA-FR 6 125301305 125301305 single base substitution G C intron_variant BRCA-FR 6 125301305 125301305 single base substitution G C upstream_gene_variant BRCA-FR 6 125322735 125322735 single base substitution A G intron_variant BRCA-FR 6 125334033 125334033 single base substitution C T downstream_gene_variant BRCA-FR 6 125334033 125334033 single base substitution C T intron_variant BRCA-FR 6 125354297 125354297 single base substitution G C intron_variant BRCA-FR 6 125359876 125359876 single base substitution T C intron_variant BRCA-FR 6 125362494 125362494 single base substitution A T intron_variant BRCA-FR 6 125362494 125362494 single base substitution A T upstream_gene_variant BRCA-FR 6 125363327 125363327 single base substitution G C intron_variant BRCA-FR 6 125363327 125363327 single base substitution G C upstream_gene_variant BRCA-FR 6 125367808 125367808 single base substitution G T downstream_gene_variant BRCA-FR 6 125367808 125367808 single base substitution G T intron_variant BRCA-FR 6 125367808 125367808 single base substitution G T splice_donor_variant BRCA-FR 6 125367808 125367808 single base substitution G T upstream_gene_variant BRCA-FR 6 125370430 125370430 single base substitution A G downstream_gene_variant BRCA-FR 6 125370430 125370430 single base substitution A G intron_variant BRCA-FR 6 125382137 125382137 single base substitution G C intron_variant BRCA-FR 6 125389339 125389339 single base substitution G A intron_variant BRCA-FR 6 125400175 125400175 single base substitution G C downstream_gene_variant BRCA-FR 6 125400175 125400175 single base substitution G C intron_variant BRCA-FR 6 125400986 125400986 single base substitution A G downstream_gene_variant BRCA-FR 6 125400986 125400986 single base substitution A G intron_variant BRCA-FR 6 125401908 125401908 single base substitution G A downstream_gene_variant BRCA-FR 6 125401908 125401908 single base substitution G A intron_variant BRCA-FR 6 125402304 125402304 single base substitution G C downstream_gene_variant BRCA-FR 6 125402304 125402304 single base substitution G C intron_variant BRCA-FR 6 125402903 125402903 single base substitution T C downstream_gene_variant BRCA-FR 6 125402903 125402903 single base substitution T C intron_variant BRCA-FR 6 125406928 125406928 single base substitution T A 3_prime_UTR_variant BRCA-FR 6 125406928 125406928 single base substitution T A downstream_gene_variant BRCA-FR 6 125407912 125407912 single base substitution A C 3_prime_UTR_variant BRCA-FR 6 125407912 125407912 single base substitution A C downstream_gene_variant BRCA-FR 6 125410713 125410713 single base substitution G A 3_prime_UTR_variant BRCA-FR 6 125410723 125410723 single base substitution G C 3_prime_UTR_variant BRCA-FR 6 125411349 125411349 single base substitution G A 3_prime_UTR_variant BRCA-FR 6 125413274 125413274 single base substitution G A 3_prime_UTR_variant BRCA-FR 6 125413827 125413827 single base substitution T C downstream_gene_variant BRCA-UK 6 125330034 125330034 single base substitution A T exon_variant BRCA-UK 6 125330034 125330034 single base substitution A T intron_variant BRCA-UK 6 125339266 125339266 single base substitution G C intron_variant BRCA-UK 6 125342357 125342357 single base substitution G A intron_variant BRCA-UK 6 125379880 125379880 single base substitution G T intron_variant BRCA-UK 6 125401832 125401832 single base substitution G C downstream_gene_variant BRCA-UK 6 125401832 125401832 single base substitution G C intron_variant BRCA-US 6 125366417 125366417 single base substitution G A 3_prime_UTR_variant BRCA-US 6 125366417 125366417 single base substitution G A 5_prime_UTR_variant BRCA-US 6 125366417 125366417 single base substitution G A exon_variant BRCA-US 6 125366417 125366417 single base substitution G A missense_variant E23K 67G>A BRCA-US 6 125366417 125366417 single base substitution G A missense_variant E315K 943G>A BRCA-US 6 125366417 125366417 single base substitution G A missense_variant E80K 238G>A BRCA-US 6 125366417 125366417 single base substitution G A upstream_gene_variant BRCA-US 6 125379112 125379112 single base substitution G T 3_prime_UTR_variant BRCA-US 6 125379112 125379112 single base substitution G T 5_prime_UTR_variant BRCA-US 6 125379112 125379112 single base substitution G T exon_variant BRCA-US 6 125379112 125379112 single base substitution G T missense_variant V146F 436G>T BRCA-US 6 125379112 125379112 single base substitution G T missense_variant V25F 73G>T BRCA-US 6 125379112 125379112 single base substitution G T missense_variant V381F 1141G>T BRCA-US 6 125379112 125379112 single base substitution G T missense_variant V89F 265G>T BRCA-US 6 125397899 125397899 single base substitution C T 3_prime_UTR_variant BRCA-US 6 125397899 125397899 single base substitution C T exon_variant BRCA-US 6 125397899 125397899 single base substitution C T stop_gained R104* 310C>T BRCA-US 6 125397899 125397899 single base substitution C T stop_gained R168* 502C>T BRCA-US 6 125397899 125397899 single base substitution C T stop_gained R225* 673C>T BRCA-US 6 125397899 125397899 single base substitution C T stop_gained R22* 64C>T BRCA-US 6 125397899 125397899 single base substitution C T stop_gained R460* 1378C>T CESC-US 6 125284221 125284221 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant CESC-US 6 125284221 125284221 single base substitution C T synonymous_variant P177P 531C>T CESC-US 6 125284221 125284221 single base substitution C T upstream_gene_variant CESC-US 6 125379248 125379248 single base substitution G A 3_prime_UTR_variant CESC-US 6 125379248 125379248 single base substitution G A 5_prime_UTR_variant CESC-US 6 125379248 125379248 single base substitution G A exon_variant CESC-US 6 125379248 125379248 single base substitution G A missense_variant C134Y 401G>A CESC-US 6 125379248 125379248 single base substitution G A missense_variant C191Y 572G>A CESC-US 6 125379248 125379248 single base substitution G A missense_variant C426Y 1277G>A CESC-US 6 125379248 125379248 single base substitution G A missense_variant C70Y 209G>A CESC-US 6 125404041 125404041 insertion of <=200bp - A 3_prime_UTR_variant CESC-US 6 125404041 125404041 insertion of <=200bp - A exon_variant CESC-US 6 125404041 125404041 insertion of <=200bp - A frameshift_variant *276I? CESC-US 6 125404041 125404041 insertion of <=200bp - A frameshift_variant C173*? CESC-US 6 125404041 125404041 insertion of <=200bp - A frameshift_variant C294*? CESC-US 6 125404041 125404041 insertion of <=200bp - A frameshift_variant C529*? CESC-US 6 125404041 125404041 insertion of <=200bp - A frameshift_variant C91*? CLLE-ES 6 125279172 125279172 single base substitution A G upstream_gene_variant CLLE-ES 6 125299025 125299025 single base substitution T C intron_variant CLLE-ES 6 125302304 125302304 single base substitution A C intron_variant CLLE-ES 6 125302304 125302304 single base substitution A C upstream_gene_variant CLLE-ES 6 125318649 125318649 single base substitution C T intron_variant CLLE-ES 6 125321598 125321598 single base substitution A G intron_variant CLLE-ES 6 125351003 125351003 single base substitution C T intron_variant CLLE-ES 6 125352500 125352500 single base substitution A C intron_variant CLLE-ES 6 125356881 125356881 single base substitution T A intron_variant CLLE-ES 6 125357571 125357571 single base substitution C G intron_variant CLLE-ES 6 125360562 125360562 single base substitution T C intron_variant CLLE-ES 6 125366097 125366097 single base substitution A C intron_variant CLLE-ES 6 125366097 125366097 single base substitution A C upstream_gene_variant CLLE-ES 6 125367970 125367970 single base substitution G A downstream_gene_variant CLLE-ES 6 125367970 125367970 single base substitution G A intron_variant CLLE-ES 6 125367970 125367970 single base substitution G A upstream_gene_variant CLLE-ES 6 125369797 125369797 single base substitution A G downstream_gene_variant CLLE-ES 6 125369797 125369797 single base substitution A G intron_variant CLLE-ES 6 125373893 125373893 single base substitution C A intron_variant CLLE-ES 6 125375706 125375706 single base substitution G T intron_variant CLLE-ES 6 125377307 125377307 single base substitution T C intron_variant CLLE-ES 6 125395490 125395490 single base substitution G A intron_variant CLLE-ES 6 125397951 125397951 single base substitution G A 3_prime_UTR_variant CLLE-ES 6 125397951 125397951 single base substitution G A exon_variant CLLE-ES 6 125397951 125397951 single base substitution G A missense_variant R121H 362G>A CLLE-ES 6 125397951 125397951 single base substitution G A missense_variant R185H 554G>A CLLE-ES 6 125397951 125397951 single base substitution G A missense_variant R242H 725G>A CLLE-ES 6 125397951 125397951 single base substitution G A missense_variant R39H 116G>A CLLE-ES 6 125397951 125397951 single base substitution G A missense_variant R477H 1430G>A CLLE-ES 6 125400731 125400731 single base substitution T A downstream_gene_variant CLLE-ES 6 125400731 125400731 single base substitution T A intron_variant CLLE-ES 6 125404108 125404108 single base substitution A C 3_prime_UTR_variant CLLE-ES 6 125404108 125404108 single base substitution A C downstream_gene_variant CLLE-ES 6 125405402 125405402 single base substitution T A 3_prime_UTR_variant CLLE-ES 6 125405402 125405402 single base substitution T A downstream_gene_variant CLLE-ES 6 125412041 125412041 single base substitution T A 3_prime_UTR_variant CLLE-ES 6 125413395 125413395 single base substitution C T 3_prime_UTR_variant COCA-CN 6 125282373 125282373 single base substitution C A upstream_gene_variant COCA-CN 6 125285687 125285687 single base substitution G A intron_variant COCA-CN 6 125290195 125290195 single base substitution T A intron_variant COCA-CN 6 125290195 125290195 single base substitution T A upstream_gene_variant COCA-CN 6 125298595 125298595 single base substitution G T intron_variant COCA-CN 6 125317330 125317330 single base substitution T C intron_variant COCA-CN 6 125338457 125338457 single base substitution C A intron_variant COCA-CN 6 125340799 125340799 single base substitution C T intron_variant COCA-CN 6 125340977 125340977 single base substitution A G intron_variant COCA-CN 6 125345547 125345547 single base substitution G A intron_variant COCA-CN 6 125352179 125352179 single base substitution C T intron_variant COCA-CN 6 125355661 125355661 single base substitution A G intron_variant COCA-CN 6 125360719 125360719 single base substitution G T intron_variant COCA-CN 6 125367663 125367663 single base substitution G T downstream_gene_variant COCA-CN 6 125367663 125367663 single base substitution G T intron_variant COCA-CN 6 125367663 125367663 single base substitution G T upstream_gene_variant COCA-CN 6 125386187 125386187 single base substitution C T intron_variant COCA-CN 6 125397740 125397740 single base substitution C T intron_variant COCA-CN 6 125397770 125397770 single base substitution C A intron_variant COCA-CN 6 125404057 125404057 single base substitution C T 3_prime_UTR_variant COCA-CN 6 125404057 125404057 single base substitution C T exon_variant COCA-CN 6 125404057 125404057 single base substitution C T stop_gained R179* 535C>T COCA-CN 6 125404057 125404057 single base substitution C T stop_gained R300* 898C>T COCA-CN 6 125404057 125404057 single base substitution C T stop_gained R535* 1603C>T COCA-CN 6 125404057 125404057 single base substitution C T stop_gained R97* 289C>T EOPC-DE 6 125297902 125297902 single base substitution G C intron_variant EOPC-DE 6 125352085 125352085 single base substitution A T intron_variant EOPC-DE 6 125384372 125384372 single base substitution C T intron_variant EOPC-DE 6 125412596 125412596 single base substitution C T 3_prime_UTR_variant ESAD-UK 6 125279437 125279437 single base substitution A C upstream_gene_variant ESAD-UK 6 125280352 125280352 single base substitution T A upstream_gene_variant ESAD-UK 6 125280547 125280547 single base substitution T G upstream_gene_variant ESAD-UK 6 125280628 125280628 single base substitution A C upstream_gene_variant ESAD-UK 6 125280682 125280682 single base substitution A T upstream_gene_variant ESAD-UK 6 125281429 125281429 single base substitution A G upstream_gene_variant ESAD-UK 6 125281457 125281457 single base substitution G T upstream_gene_variant ESAD-UK 6 125281468 125281468 single base substitution A C upstream_gene_variant ESAD-UK 6 125281552 125281552 single base substitution A G upstream_gene_variant ESAD-UK 6 125282076 125282076 single base substitution A C upstream_gene_variant ESAD-UK 6 125282165 125282165 single base substitution A G upstream_gene_variant ESAD-UK 6 125282624 125282624 single base substitution C T upstream_gene_variant ESAD-UK 6 125283414 125283414 single base substitution C T upstream_gene_variant ESAD-UK 6 125283721 125283721 single base substitution G A missense_variant G11S 31G>A ESAD-UK 6 125283721 125283721 single base substitution G A upstream_gene_variant ESAD-UK 6 125284502 125284502 single base substitution C T exon_variant ESAD-UK 6 125284502 125284502 single base substitution C T missense_variant P271L 812C>T ESAD-UK 6 125284502 125284502 single base substitution C T missense_variant P36L 107C>T ESAD-UK 6 125284586 125284586 single base substitution C T intron_variant ESAD-UK 6 125286108 125286108 single base substitution C T intron_variant ESAD-UK 6 125287037 125287037 single base substitution A T intron_variant ESAD-UK 6 125287161 125287161 single base substitution C T intron_variant ESAD-UK 6 125287510 125287510 single base substitution A C intron_variant ESAD-UK 6 125287510 125287510 single base substitution A C upstream_gene_variant ESAD-UK 6 125288353 125288353 single base substitution A C intron_variant ESAD-UK 6 125288353 125288353 single base substitution A C upstream_gene_variant ESAD-UK 6 125288928 125288928 single base substitution A T intron_variant ESAD-UK 6 125288928 125288928 single base substitution A T upstream_gene_variant ESAD-UK 6 125289218 125289218 single base substitution G A intron_variant ESAD-UK 6 125289218 125289218 single base substitution G A upstream_gene_variant ESAD-UK 6 125289988 125289988 single base substitution A C intron_variant ESAD-UK 6 125289988 125289988 single base substitution A C upstream_gene_variant ESAD-UK 6 125290084 125290084 single base substitution A C intron_variant ESAD-UK 6 125290084 125290084 single base substitution A C upstream_gene_variant ESAD-UK 6 125290195 125290195 single base substitution T A intron_variant ESAD-UK 6 125290195 125290195 single base substitution T A upstream_gene_variant ESAD-UK 6 125290829 125290829 single base substitution G A intron_variant ESAD-UK 6 125290829 125290829 single base substitution G A upstream_gene_variant ESAD-UK 6 125291777 125291777 single base substitution G A intron_variant ESAD-UK 6 125291777 125291777 single base substitution G A upstream_gene_variant ESAD-UK 6 125292391 125292391 single base substitution A G intron_variant ESAD-UK 6 125292391 125292391 single base substitution A G upstream_gene_variant ESAD-UK 6 125292621 125292621 single base substitution G T exon_variant ESAD-UK 6 125292621 125292621 single base substitution G T intron_variant ESAD-UK 6 125292912 125292912 single base substitution A C downstream_gene_variant ESAD-UK 6 125292912 125292912 single base substitution A C intron_variant ESAD-UK 6 125293225 125293225 single base substitution C G downstream_gene_variant ESAD-UK 6 125293225 125293225 single base substitution C G intron_variant ESAD-UK 6 125293499 125293499 single base substitution T G downstream_gene_variant ESAD-UK 6 125293499 125293499 single base substitution T G intron_variant ESAD-UK 6 125294170 125294170 single base substitution G A downstream_gene_variant ESAD-UK 6 125294170 125294170 single base substitution G A intron_variant ESAD-UK 6 125294308 125294308 single base substitution C A downstream_gene_variant ESAD-UK 6 125294308 125294308 single base substitution C A intron_variant ESAD-UK 6 125294421 125294421 single base substitution T C downstream_gene_variant ESAD-UK 6 125294421 125294421 single base substitution T C intron_variant ESAD-UK 6 125294461 125294461 single base substitution A G downstream_gene_variant ESAD-UK 6 125294461 125294461 single base substitution A G intron_variant ESAD-UK 6 125294833 125294833 deletion of <=200bp A - downstream_gene_variant ESAD-UK 6 125294833 125294833 deletion of <=200bp A - intron_variant ESAD-UK 6 125294843 125294843 single base substitution A C downstream_gene_variant ESAD-UK 6 125294843 125294843 single base substitution A C intron_variant ESAD-UK 6 125295263 125295263 single base substitution A C downstream_gene_variant ESAD-UK 6 125295263 125295263 single base substitution A C intron_variant ESAD-UK 6 125295794 125295794 single base substitution T G downstream_gene_variant ESAD-UK 6 125295794 125295794 single base substitution T G intron_variant ESAD-UK 6 125296920 125296920 single base substitution A C downstream_gene_variant ESAD-UK 6 125296920 125296920 single base substitution A C intron_variant ESAD-UK 6 125296967 125296967 single base substitution G C downstream_gene_variant ESAD-UK 6 125296967 125296967 single base substitution G C intron_variant ESAD-UK 6 125297108 125297108 single base substitution A T downstream_gene_variant ESAD-UK 6 125297108 125297108 single base substitution A T intron_variant ESAD-UK 6 125297207 125297207 single base substitution A C downstream_gene_variant ESAD-UK 6 125297207 125297207 single base substitution A C intron_variant ESAD-UK 6 125297962 125297962 single base substitution T G intron_variant ESAD-UK 6 125298359 125298359 single base substitution G A intron_variant ESAD-UK 6 125298463 125298463 single base substitution T A intron_variant ESAD-UK 6 125298463 125298463 single base substitution T G intron_variant ESAD-UK 6 125298796 125298796 single base substitution A C intron_variant ESAD-UK 6 125298962 125298962 insertion of <=200bp - A intron_variant ESAD-UK 6 125299153 125299153 single base substitution A C intron_variant ESAD-UK 6 125299230 125299230 single base substitution A C intron_variant ESAD-UK 6 125299522 125299522 single base substitution T A intron_variant ESAD-UK 6 125299522 125299522 single base substitution T A upstream_gene_variant ESAD-UK 6 125300163 125300163 single base substitution A C intron_variant ESAD-UK 6 125300163 125300163 single base substitution A C upstream_gene_variant ESAD-UK 6 125300199 125300199 single base substitution A T intron_variant ESAD-UK 6 125300199 125300199 single base substitution A T upstream_gene_variant ESAD-UK 6 125300496 125300496 single base substitution C T intron_variant ESAD-UK 6 125300496 125300496 single base substitution C T upstream_gene_variant ESAD-UK 6 125300836 125300836 single base substitution T G intron_variant ESAD-UK 6 125300836 125300836 single base substitution T G upstream_gene_variant ESAD-UK 6 125300866 125300866 single base substitution C T intron_variant ESAD-UK 6 125300866 125300866 single base substitution C T upstream_gene_variant ESAD-UK 6 125301792 125301792 single base substitution C A intron_variant ESAD-UK 6 125301792 125301792 single base substitution C A upstream_gene_variant ESAD-UK 6 125303280 125303280 single base substitution T G intron_variant ESAD-UK 6 125303280 125303280 single base substitution T G upstream_gene_variant ESAD-UK 6 125303448 125303448 single base substitution A C intron_variant ESAD-UK 6 125303448 125303448 single base substitution A C upstream_gene_variant ESAD-UK 6 125304244 125304244 single base substitution T C intron_variant ESAD-UK 6 125304244 125304244 single base substitution T C upstream_gene_variant ESAD-UK 6 125305202 125305202 single base substitution G T intron_variant ESAD-UK 6 125305544 125305544 single base substitution A C intron_variant ESAD-UK 6 125305607 125305607 single base substitution A G intron_variant ESAD-UK 6 125306193 125306193 single base substitution A C intron_variant ESAD-UK 6 125307420 125307420 single base substitution T C intron_variant ESAD-UK 6 125307676 125307676 single base substitution G C intron_variant ESAD-UK 6 125309567 125309567 single base substitution T G intron_variant ESAD-UK 6 125309623 125309623 single base substitution A C intron_variant ESAD-UK 6 125309667 125309667 single base substitution T G intron_variant ESAD-UK 6 125310382 125310382 single base substitution A G intron_variant ESAD-UK 6 125310432 125310432 single base substitution A C intron_variant ESAD-UK 6 125310432 125310432 single base substitution A G intron_variant ESAD-UK 6 125310932 125310932 single base substitution A C intron_variant ESAD-UK 6 125311455 125311455 single base substitution C T intron_variant ESAD-UK 6 125311568 125311568 single base substitution T G intron_variant ESAD-UK 6 125311640 125311640 single base substitution T G intron_variant ESAD-UK 6 125311798 125311798 single base substitution C T intron_variant ESAD-UK 6 125312163 125312163 single base substitution A C intron_variant ESAD-UK 6 125312602 125312602 single base substitution T G intron_variant ESAD-UK 6 125312859 125312859 single base substitution A C intron_variant ESAD-UK 6 125313235 125313235 single base substitution A C intron_variant ESAD-UK 6 125313649 125313649 single base substitution T C intron_variant ESAD-UK 6 125313714 125313714 single base substitution G A intron_variant ESAD-UK 6 125313823 125313823 single base substitution A C intron_variant ESAD-UK 6 125313895 125313895 single base substitution T C intron_variant ESAD-UK 6 125314225 125314225 single base substitution A T intron_variant ESAD-UK 6 125314666 125314666 single base substitution G A intron_variant ESAD-UK 6 125315541 125315541 single base substitution C T intron_variant ESAD-UK 6 125315542 125315542 single base substitution G A intron_variant ESAD-UK 6 125315643 125315643 single base substitution A C intron_variant ESAD-UK 6 125316401 125316401 single base substitution A C intron_variant ESAD-UK 6 125316409 125316409 single base substitution A G intron_variant ESAD-UK 6 125316634 125316634 deletion of <=200bp T - intron_variant ESAD-UK 6 125317106 125317106 single base substitution A T intron_variant ESAD-UK 6 125317123 125317123 single base substitution T C intron_variant ESAD-UK 6 125318474 125318474 single base substitution A C intron_variant ESAD-UK 6 125318776 125318776 single base substitution C T intron_variant ESAD-UK 6 125319917 125319917 single base substitution C A intron_variant ESAD-UK 6 125321289 125321289 single base substitution T C intron_variant ESAD-UK 6 125322717 125322717 single base substitution G A intron_variant ESAD-UK 6 125324059 125324059 single base substitution G C intron_variant ESAD-UK 6 125324432 125324432 single base substitution A C intron_variant ESAD-UK 6 125325145 125325145 single base substitution T G intron_variant ESAD-UK 6 125325145 125325145 single base substitution T G upstream_gene_variant ESAD-UK 6 125325473 125325473 single base substitution T G intron_variant ESAD-UK 6 125325473 125325473 single base substitution T G upstream_gene_variant ESAD-UK 6 125325481 125325481 single base substitution C G intron_variant ESAD-UK 6 125325481 125325481 single base substitution C G upstream_gene_variant ESAD-UK 6 125325544 125325544 single base substitution A C intron_variant ESAD-UK 6 125325544 125325544 single base substitution A C upstream_gene_variant ESAD-UK 6 125326113 125326113 single base substitution A C intron_variant ESAD-UK 6 125326113 125326113 single base substitution A C upstream_gene_variant ESAD-UK 6 125326411 125326411 single base substitution T G intron_variant ESAD-UK 6 125326411 125326411 single base substitution T G upstream_gene_variant ESAD-UK 6 125327759 125327759 single base substitution G A intron_variant ESAD-UK 6 125327759 125327759 single base substitution G A upstream_gene_variant ESAD-UK 6 125328352 125328352 single base substitution T G intron_variant ESAD-UK 6 125328352 125328352 single base substitution T G upstream_gene_variant ESAD-UK 6 125328862 125328862 single base substitution A G intron_variant ESAD-UK 6 125328862 125328862 single base substitution A G upstream_gene_variant ESAD-UK 6 125329109 125329109 single base substitution T G intron_variant ESAD-UK 6 125329109 125329109 single base substitution T G upstream_gene_variant ESAD-UK 6 125329774 125329774 single base substitution G T intron_variant ESAD-UK 6 125329774 125329774 single base substitution G T upstream_gene_variant ESAD-UK 6 125330747 125330747 single base substitution T G downstream_gene_variant ESAD-UK 6 125330747 125330747 single base substitution T G intron_variant ESAD-UK 6 125331053 125331053 single base substitution T C downstream_gene_variant ESAD-UK 6 125331053 125331053 single base substitution T C intron_variant ESAD-UK 6 125331403 125331403 single base substitution A G downstream_gene_variant ESAD-UK 6 125331403 125331403 single base substitution A G intron_variant ESAD-UK 6 125331535 125331535 single base substitution A G downstream_gene_variant ESAD-UK 6 125331535 125331535 single base substitution A G intron_variant ESAD-UK 6 125331793 125331793 single base substitution C T downstream_gene_variant ESAD-UK 6 125331793 125331793 single base substitution C T intron_variant ESAD-UK 6 125332505 125332505 single base substitution G T downstream_gene_variant ESAD-UK 6 125332505 125332505 single base substitution G T intron_variant ESAD-UK 6 125332814 125332814 single base substitution G A downstream_gene_variant ESAD-UK 6 125332814 125332814 single base substitution G A intron_variant ESAD-UK 6 125333119 125333119 single base substitution C T downstream_gene_variant ESAD-UK 6 125333119 125333119 single base substitution C T intron_variant ESAD-UK 6 125333426 125333426 single base substitution T A downstream_gene_variant ESAD-UK 6 125333426 125333426 single base substitution T A intron_variant ESAD-UK 6 125333707 125333707 single base substitution G A downstream_gene_variant ESAD-UK 6 125333707 125333707 single base substitution G A intron_variant ESAD-UK 6 125334362 125334362 single base substitution A C downstream_gene_variant ESAD-UK 6 125334362 125334362 single base substitution A C intron_variant ESAD-UK 6 125334562 125334562 single base substitution C T downstream_gene_variant ESAD-UK 6 125334562 125334562 single base substitution C T intron_variant ESAD-UK 6 125335121 125335121 single base substitution T C downstream_gene_variant ESAD-UK 6 125335121 125335121 single base substitution T C intron_variant ESAD-UK 6 125335474 125335474 single base substitution A C downstream_gene_variant ESAD-UK 6 125335474 125335474 single base substitution A C intron_variant ESAD-UK 6 125335495 125335495 single base substitution A G downstream_gene_variant ESAD-UK 6 125335495 125335495 single base substitution A G intron_variant ESAD-UK 6 125336512 125336512 single base substitution A C intron_variant ESAD-UK 6 125336528 125336528 single base substitution T G intron_variant ESAD-UK 6 125336893 125336893 single base substitution A G intron_variant ESAD-UK 6 125337063 125337063 single base substitution A G intron_variant ESAD-UK 6 125337233 125337233 single base substitution G A intron_variant ESAD-UK 6 125337766 125337766 single base substitution T C intron_variant ESAD-UK 6 125337780 125337780 deletion of <=200bp A - intron_variant ESAD-UK 6 125339255 125339255 deletion of <=200bp T - intron_variant ESAD-UK 6 125339361 125339361 single base substitution G A intron_variant ESAD-UK 6 125340128 125340128 single base substitution T G intron_variant ESAD-UK 6 125341212 125341212 single base substitution C A intron_variant ESAD-UK 6 125342140 125342140 single base substitution G A intron_variant ESAD-UK 6 125342376 125342376 single base substitution A G intron_variant ESAD-UK 6 125342798 125342798 single base substitution T C intron_variant ESAD-UK 6 125343039 125343039 deletion of <=200bp T - intron_variant ESAD-UK 6 125343136 125343136 single base substitution T C intron_variant ESAD-UK 6 125343963 125343963 single base substitution G A intron_variant ESAD-UK 6 125344437 125344437 single base substitution C A intron_variant ESAD-UK 6 125344499 125344499 single base substitution T C intron_variant ESAD-UK 6 125345816 125345816 single base substitution A G intron_variant ESAD-UK 6 125346067 125346067 single base substitution G T intron_variant ESAD-UK 6 125346417 125346417 single base substitution A C intron_variant ESAD-UK 6 125346549 125346549 single base substitution T A intron_variant ESAD-UK 6 125346869 125346869 single base substitution A G intron_variant ESAD-UK 6 125347755 125347755 single base substitution A C intron_variant ESAD-UK 6 125347972 125347972 single base substitution A C intron_variant ESAD-UK 6 125348017 125348017 single base substitution G C intron_variant ESAD-UK 6 125348412 125348412 single base substitution T C intron_variant ESAD-UK 6 125348639 125348639 single base substitution T G intron_variant ESAD-UK 6 125349183 125349183 single base substitution A G intron_variant ESAD-UK 6 125349430 125349430 single base substitution A G intron_variant ESAD-UK 6 125349876 125349876 single base substitution T C intron_variant ESAD-UK 6 125349883 125349883 single base substitution A G intron_variant ESAD-UK 6 125350223 125350223 single base substitution T A intron_variant ESAD-UK 6 125350288 125350288 single base substitution A G intron_variant ESAD-UK 6 125350684 125350684 single base substitution A G intron_variant ESAD-UK 6 125350698 125350698 single base substitution A T intron_variant ESAD-UK 6 125350800 125350802 deletion of <=200bp TGT - intron_variant ESAD-UK 6 125350880 125350880 single base substitution A C intron_variant ESAD-UK 6 125351084 125351084 single base substitution G T intron_variant ESAD-UK 6 125351680 125351680 single base substitution A G intron_variant ESAD-UK 6 125352295 125352295 single base substitution A T intron_variant ESAD-UK 6 125352605 125352605 single base substitution A C intron_variant ESAD-UK 6 125353596 125353596 single base substitution T A intron_variant ESAD-UK 6 125354106 125354106 single base substitution A C intron_variant ESAD-UK 6 125354355 125354355 single base substitution T A intron_variant ESAD-UK 6 125358621 125358621 single base substitution T G intron_variant ESAD-UK 6 125358927 125358927 single base substitution A C intron_variant ESAD-UK 6 125360398 125360398 single base substitution T A intron_variant ESAD-UK 6 125360429 125360429 single base substitution A G intron_variant ESAD-UK 6 125360580 125360580 single base substitution A G intron_variant ESAD-UK 6 125360593 125360593 single base substitution A G intron_variant ESAD-UK 6 125360798 125360798 single base substitution T C intron_variant ESAD-UK 6 125360974 125360974 single base substitution C A intron_variant ESAD-UK 6 125361185 125361185 single base substitution A C intron_variant ESAD-UK 6 125361228 125361228 single base substitution A C intron_variant ESAD-UK 6 125361267 125361267 insertion of <=200bp - A intron_variant ESAD-UK 6 125361288 125361288 single base substitution A G intron_variant ESAD-UK 6 125361919 125361919 single base substitution G C intron_variant ESAD-UK 6 125361919 125361919 single base substitution G C upstream_gene_variant ESAD-UK 6 125362310 125362310 single base substitution A C intron_variant ESAD-UK 6 125362310 125362310 single base substitution A C upstream_gene_variant ESAD-UK 6 125362341 125362341 single base substitution A C intron_variant ESAD-UK 6 125362341 125362341 single base substitution A C upstream_gene_variant ESAD-UK 6 125362342 125362342 single base substitution A C intron_variant ESAD-UK 6 125362342 125362342 single base substitution A C upstream_gene_variant ESAD-UK 6 125362361 125362361 single base substitution A C intron_variant ESAD-UK 6 125362361 125362361 single base substitution A C upstream_gene_variant ESAD-UK 6 125362567 125362567 single base substitution T C intron_variant ESAD-UK 6 125362567 125362567 single base substitution T C upstream_gene_variant ESAD-UK 6 125362687 125362687 single base substitution T C intron_variant ESAD-UK 6 125362687 125362687 single base substitution T C upstream_gene_variant ESAD-UK 6 125362949 125362949 single base substitution T G intron_variant ESAD-UK 6 125362949 125362949 single base substitution T G upstream_gene_variant ESAD-UK 6 125363017 125363017 single base substitution G A intron_variant ESAD-UK 6 125363017 125363017 single base substitution G A upstream_gene_variant ESAD-UK 6 125363120 125363120 single base substitution T C intron_variant ESAD-UK 6 125363120 125363120 single base substitution T C upstream_gene_variant ESAD-UK 6 125363346 125363346 single base substitution A C intron_variant ESAD-UK 6 125363346 125363346 single base substitution A C upstream_gene_variant ESAD-UK 6 125363399 125363399 single base substitution A G intron_variant ESAD-UK 6 125363399 125363399 single base substitution A G upstream_gene_variant ESAD-UK 6 125364199 125364199 single base substitution A C intron_variant ESAD-UK 6 125364199 125364199 single base substitution A C upstream_gene_variant ESAD-UK 6 125364209 125364209 single base substitution A C intron_variant ESAD-UK 6 125364209 125364209 single base substitution A C upstream_gene_variant ESAD-UK 6 125364811 125364811 single base substitution A C intron_variant ESAD-UK 6 125364811 125364811 single base substitution A C upstream_gene_variant ESAD-UK 6 125365766 125365766 single base substitution G T intron_variant ESAD-UK 6 125365766 125365766 single base substitution G T upstream_gene_variant ESAD-UK 6 125366829 125366829 single base substitution C T downstream_gene_variant ESAD-UK 6 125366829 125366829 single base substitution C T intron_variant ESAD-UK 6 125366829 125366829 single base substitution C T upstream_gene_variant ESAD-UK 6 125367430 125367430 single base substitution A C downstream_gene_variant ESAD-UK 6 125367430 125367430 single base substitution A C intron_variant ESAD-UK 6 125367430 125367430 single base substitution A C upstream_gene_variant ESAD-UK 6 125368180 125368180 single base substitution A G downstream_gene_variant ESAD-UK 6 125368180 125368180 single base substitution A G intron_variant ESAD-UK 6 125368180 125368180 single base substitution A G upstream_gene_variant ESAD-UK 6 125368512 125368512 single base substitution A C downstream_gene_variant ESAD-UK 6 125368512 125368512 single base substitution A C intron_variant ESAD-UK 6 125368512 125368512 single base substitution A C upstream_gene_variant ESAD-UK 6 125368961 125368961 single base substitution G A downstream_gene_variant ESAD-UK 6 125368961 125368961 single base substitution G A intron_variant ESAD-UK 6 125368961 125368961 single base substitution G A upstream_gene_variant ESAD-UK 6 125369384 125369384 single base substitution C A 3_prime_UTR_variant ESAD-UK 6 125369384 125369384 single base substitution C A downstream_gene_variant ESAD-UK 6 125369384 125369384 single base substitution C A intron_variant ESAD-UK 6 125369384 125369384 single base substitution C A synonymous_variant I9I 27C>A ESAD-UK 6 125369499 125369499 single base substitution G T downstream_gene_variant ESAD-UK 6 125369499 125369499 single base substitution G T intron_variant ESAD-UK 6 125369817 125369817 single base substitution A C downstream_gene_variant ESAD-UK 6 125369817 125369817 single base substitution A C intron_variant ESAD-UK 6 125370464 125370464 single base substitution A C downstream_gene_variant ESAD-UK 6 125370464 125370464 single base substitution A C intron_variant ESAD-UK 6 125370503 125370503 single base substitution A C downstream_gene_variant ESAD-UK 6 125370503 125370503 single base substitution A C intron_variant ESAD-UK 6 125370554 125370554 single base substitution G A downstream_gene_variant ESAD-UK 6 125370554 125370554 single base substitution G A intron_variant ESAD-UK 6 125370870 125370870 single base substitution A T downstream_gene_variant ESAD-UK 6 125370870 125370870 single base substitution A T intron_variant ESAD-UK 6 125371371 125371371 single base substitution T C downstream_gene_variant ESAD-UK 6 125371371 125371371 single base substitution T C intron_variant ESAD-UK 6 125371433 125371433 single base substitution C A downstream_gene_variant ESAD-UK 6 125371433 125371433 single base substitution C A intron_variant ESAD-UK 6 125371859 125371859 single base substitution T C intron_variant ESAD-UK 6 125373000 125373000 single base substitution T A intron_variant ESAD-UK 6 125373023 125373023 single base substitution G T intron_variant ESAD-UK 6 125373176 125373176 single base substitution G T intron_variant ESAD-UK 6 125373328 125373328 single base substitution T C intron_variant ESAD-UK 6 125373710 125373710 single base substitution T A intron_variant ESAD-UK 6 125374047 125374047 single base substitution T G intron_variant ESAD-UK 6 125374466 125374466 single base substitution A C intron_variant ESAD-UK 6 125374922 125374922 single base substitution T G intron_variant ESAD-UK 6 125375033 125375033 single base substitution G T intron_variant ESAD-UK 6 125375114 125375114 single base substitution C T intron_variant ESAD-UK 6 125376082 125376082 single base substitution A G intron_variant ESAD-UK 6 125376252 125376252 single base substitution A C intron_variant ESAD-UK 6 125376679 125376679 single base substitution G A intron_variant ESAD-UK 6 125377550 125377550 single base substitution T C intron_variant ESAD-UK 6 125377780 125377780 single base substitution T C intron_variant ESAD-UK 6 125378671 125378671 single base substitution T A intron_variant ESAD-UK 6 125378671 125378671 single base substitution T C intron_variant ESAD-UK 6 125378835 125378835 single base substitution T G intron_variant ESAD-UK 6 125379309 125379309 single base substitution A C intron_variant ESAD-UK 6 125379554 125379554 single base substitution G A intron_variant ESAD-UK 6 125379641 125379641 single base substitution T A intron_variant ESAD-UK 6 125379641 125379641 single base substitution T G intron_variant ESAD-UK 6 125379896 125379896 single base substitution G A intron_variant ESAD-UK 6 125381016 125381016 single base substitution G A intron_variant ESAD-UK 6 125381485 125381485 single base substitution G T intron_variant ESAD-UK 6 125381898 125381898 single base substitution G C intron_variant ESAD-UK 6 125382566 125382566 single base substitution A C intron_variant ESAD-UK 6 125382776 125382776 single base substitution T G intron_variant ESAD-UK 6 125384355 125384355 single base substitution A C intron_variant ESAD-UK 6 125384944 125384944 single base substitution A C intron_variant ESAD-UK 6 125385166 125385166 single base substitution G A intron_variant ESAD-UK 6 125385414 125385414 single base substitution A C intron_variant ESAD-UK 6 125385656 125385656 single base substitution T A intron_variant ESAD-UK 6 125385989 125385990 deletion of <=200bp TA - intron_variant ESAD-UK 6 125386192 125386192 single base substitution C T intron_variant ESAD-UK 6 125386258 125386258 insertion of <=200bp - A intron_variant ESAD-UK 6 125386387 125386387 single base substitution A G intron_variant ESAD-UK 6 125388144 125388144 insertion of <=200bp - C intron_variant ESAD-UK 6 125388351 125388351 single base substitution A C intron_variant ESAD-UK 6 125388742 125388742 single base substitution A T intron_variant ESAD-UK 6 125389236 125389236 single base substitution T A intron_variant ESAD-UK 6 125389238 125389238 single base substitution A C intron_variant ESAD-UK 6 125389936 125389936 single base substitution T C intron_variant ESAD-UK 6 125390842 125390842 single base substitution A C intron_variant ESAD-UK 6 125390851 125390851 single base substitution A G intron_variant ESAD-UK 6 125391005 125391005 deletion of <=200bp T - intron_variant ESAD-UK 6 125391091 125391091 single base substitution G A intron_variant ESAD-UK 6 125391380 125391380 single base substitution T G intron_variant ESAD-UK 6 125391565 125391565 single base substitution A C intron_variant ESAD-UK 6 125391788 125391788 single base substitution T G intron_variant ESAD-UK 6 125391914 125391914 single base substitution A C intron_variant ESAD-UK 6 125392216 125392216 deletion of <=200bp T - intron_variant ESAD-UK 6 125392308 125392308 single base substitution A C intron_variant ESAD-UK 6 125393126 125393126 single base substitution A C intron_variant ESAD-UK 6 125393410 125393410 single base substitution T C intron_variant ESAD-UK 6 125393524 125393524 single base substitution A C intron_variant ESAD-UK 6 125393683 125393683 single base substitution T G intron_variant ESAD-UK 6 125393717 125393717 single base substitution G T intron_variant ESAD-UK 6 125393890 125393890 single base substitution G C intron_variant ESAD-UK 6 125393926 125393926 single base substitution G T intron_variant ESAD-UK 6 125394174 125394174 single base substitution T C intron_variant ESAD-UK 6 125394621 125394622 deletion of <=200bp TC - intron_variant ESAD-UK 6 125394851 125394851 single base substitution A C intron_variant ESAD-UK 6 125395700 125395700 single base substitution C G intron_variant ESAD-UK 6 125395869 125395869 single base substitution A G intron_variant ESAD-UK 6 125395906 125395906 single base substitution T G intron_variant ESAD-UK 6 125396059 125396059 single base substitution A T intron_variant ESAD-UK 6 125396128 125396128 single base substitution A C intron_variant ESAD-UK 6 125396172 125396172 single base substitution T G intron_variant ESAD-UK 6 125396273 125396273 single base substitution T G intron_variant ESAD-UK 6 125396295 125396295 single base substitution T G intron_variant ESAD-UK 6 125396301 125396301 deletion of <=200bp T - intron_variant ESAD-UK 6 125397694 125397694 single base substitution G T intron_variant ESAD-UK 6 125398436 125398436 single base substitution C A downstream_gene_variant ESAD-UK 6 125398436 125398436 single base substitution C A intron_variant ESAD-UK 6 125398761 125398761 single base substitution T C downstream_gene_variant ESAD-UK 6 125398761 125398761 single base substitution T C intron_variant ESAD-UK 6 125399148 125399148 single base substitution G A downstream_gene_variant ESAD-UK 6 125399148 125399148 single base substitution G A intron_variant ESAD-UK 6 125399282 125399282 single base substitution T G downstream_gene_variant ESAD-UK 6 125399282 125399282 single base substitution T G intron_variant ESAD-UK 6 125399614 125399614 single base substitution A C downstream_gene_variant ESAD-UK 6 125399614 125399614 single base substitution A C intron_variant ESAD-UK 6 125400103 125400103 single base substitution A C downstream_gene_variant ESAD-UK 6 125400103 125400103 single base substitution A C intron_variant ESAD-UK 6 125400158 125400158 single base substitution T G downstream_gene_variant ESAD-UK 6 125400158 125400158 single base substitution T G intron_variant ESAD-UK 6 125400288 125400288 single base substitution A C downstream_gene_variant ESAD-UK 6 125400288 125400288 single base substitution A C intron_variant ESAD-UK 6 125400439 125400439 single base substitution A T downstream_gene_variant ESAD-UK 6 125400439 125400439 single base substitution A T intron_variant ESAD-UK 6 125401832 125401832 single base substitution G A downstream_gene_variant ESAD-UK 6 125401832 125401832 single base substitution G A intron_variant ESAD-UK 6 125402314 125402314 single base substitution A C downstream_gene_variant ESAD-UK 6 125402314 125402314 single base substitution A C intron_variant ESAD-UK 6 125403046 125403046 single base substitution A G intron_variant ESAD-UK 6 125403476 125403476 single base substitution T G intron_variant ESAD-UK 6 125403982 125403982 single base substitution A C intron_variant ESAD-UK 6 125404513 125404513 single base substitution C A 3_prime_UTR_variant ESAD-UK 6 125404513 125404513 single base substitution C A downstream_gene_variant ESAD-UK 6 125405111 125405111 single base substitution G A 3_prime_UTR_variant ESAD-UK 6 125405111 125405111 single base substitution G A downstream_gene_variant ESAD-UK 6 125405182 125405182 single base substitution A C 3_prime_UTR_variant ESAD-UK 6 125405182 125405182 single base substitution A C downstream_gene_variant ESAD-UK 6 125406635 125406635 single base substitution A G 3_prime_UTR_variant ESAD-UK 6 125406635 125406635 single base substitution A G downstream_gene_variant ESAD-UK 6 125407967 125407967 single base substitution A G 3_prime_UTR_variant ESAD-UK 6 125407967 125407967 single base substitution A G downstream_gene_variant ESAD-UK 6 125408070 125408070 single base substitution A C 3_prime_UTR_variant ESAD-UK 6 125408070 125408070 single base substitution A C downstream_gene_variant ESAD-UK 6 125408164 125408164 single base substitution C A 3_prime_UTR_variant ESAD-UK 6 125408164 125408164 single base substitution C A downstream_gene_variant ESAD-UK 6 125408258 125408258 single base substitution T A 3_prime_UTR_variant ESAD-UK 6 125408258 125408258 single base substitution T A downstream_gene_variant ESAD-UK 6 125408383 125408383 single base substitution A G 3_prime_UTR_variant ESAD-UK 6 125408383 125408383 single base substitution A G downstream_gene_variant ESAD-UK 6 125408466 125408466 single base substitution A C 3_prime_UTR_variant ESAD-UK 6 125408466 125408466 single base substitution A C downstream_gene_variant ESAD-UK 6 125408960 125408960 single base substitution T A 3_prime_UTR_variant ESAD-UK 6 125408960 125408960 single base substitution T A downstream_gene_variant ESAD-UK 6 125409080 125409080 single base substitution A G 3_prime_UTR_variant ESAD-UK 6 125409080 125409080 single base substitution A G downstream_gene_variant ESAD-UK 6 125410230 125410230 single base substitution T A 3_prime_UTR_variant ESAD-UK 6 125410295 125410295 single base substitution A T 3_prime_UTR_variant ESAD-UK 6 125410471 125410471 single base substitution A C 3_prime_UTR_variant ESAD-UK 6 125410815 125410815 single base substitution T G 3_prime_UTR_variant ESAD-UK 6 125411300 125411300 insertion of <=200bp - G 3_prime_UTR_variant ESAD-UK 6 125411650 125411650 single base substitution G C 3_prime_UTR_variant ESAD-UK 6 125412896 125412896 single base substitution T G 3_prime_UTR_variant ESAD-UK 6 125413397 125413397 single base substitution G T 3_prime_UTR_variant ESAD-UK 6 125413999 125413999 single base substitution A G downstream_gene_variant ESAD-UK 6 125414185 125414185 single base substitution G A downstream_gene_variant ESAD-UK 6 125414615 125414615 single base substitution G C downstream_gene_variant ESAD-UK 6 125414781 125414781 single base substitution C T downstream_gene_variant ESAD-UK 6 125415321 125415321 single base substitution T G downstream_gene_variant ESAD-UK 6 125415428 125415428 single base substitution A C downstream_gene_variant ESAD-UK 6 125416078 125416078 single base substitution C A downstream_gene_variant ESAD-UK 6 125416262 125416262 single base substitution T G downstream_gene_variant ESAD-UK 6 125416501 125416501 single base substitution T C downstream_gene_variant ESAD-UK 6 125416685 125416685 single base substitution G T downstream_gene_variant ESAD-UK 6 125416933 125416933 single base substitution G A downstream_gene_variant ESAD-UK 6 125417125 125417125 single base substitution C G downstream_gene_variant ESAD-UK 6 125417178 125417178 single base substitution A C downstream_gene_variant ESAD-UK 6 125417224 125417224 single base substitution A C downstream_gene_variant ESAD-UK 6 125418172 125418172 single base substitution G T downstream_gene_variant ESCA-CN 6 125330607 125330607 single base substitution T C downstream_gene_variant ESCA-CN 6 125330607 125330607 single base substitution T C exon_variant ESCA-CN 6 125330607 125330607 single base substitution T C intron_variant ESCA-CN 6 125366290 125366290 deletion of <=200bp A - intron_variant ESCA-CN 6 125366290 125366290 deletion of <=200bp A - upstream_gene_variant GBM-US 6 125379096 125379096 single base substitution C T 3_prime_UTR_variant GBM-US 6 125379096 125379096 single base substitution C T 5_prime_UTR_variant GBM-US 6 125379096 125379096 single base substitution C T exon_variant GBM-US 6 125379096 125379096 single base substitution C T synonymous_variant C140C 420C>T GBM-US 6 125379096 125379096 single base substitution C T synonymous_variant C19C 57C>T GBM-US 6 125379096 125379096 single base substitution C T synonymous_variant C375C 1125C>T GBM-US 6 125379096 125379096 single base substitution C T synonymous_variant C83C 249C>T KIRC-US 6 125366368 125366368 single base substitution C G 5_prime_UTR_variant KIRC-US 6 125366368 125366368 single base substitution C G exon_variant KIRC-US 6 125366368 125366368 single base substitution C G synonymous_variant G298G 894C>G KIRC-US 6 125366368 125366368 single base substitution C G synonymous_variant G63G 189C>G KIRC-US 6 125366368 125366368 single base substitution C G synonymous_variant G6G 18C>G KIRC-US 6 125366368 125366368 single base substitution C G upstream_gene_variant LAML-CN 6 125397872 125397872 single base substitution C T 3_prime_UTR_variant LAML-CN 6 125397872 125397872 single base substitution C T exon_variant LAML-CN 6 125397872 125397872 single base substitution C T stop_gained R13* 37C>T LAML-CN 6 125397872 125397872 single base substitution C T stop_gained R159* 475C>T LAML-CN 6 125397872 125397872 single base substitution C T stop_gained R216* 646C>T LAML-CN 6 125397872 125397872 single base substitution C T stop_gained R451* 1351C>T LAML-CN 6 125397872 125397872 single base substitution C T stop_gained R95* 283C>T LAML-KR 6 125305700 125305700 single base substitution A G intron_variant LICA-FR 6 125284889 125284889 insertion of <=200bp - ACT intron_variant LICA-FR 6 125354862 125354862 single base substitution G A intron_variant LICA-FR 6 125355000 125355000 single base substitution C A intron_variant LICA-FR 6 125355015 125355015 single base substitution T C intron_variant LICA-FR 6 125376427 125376427 single base substitution A G intron_variant LICA-FR 6 125392646 125392646 single base substitution G A intron_variant LICA-FR 6 125415570 125415570 insertion of <=200bp - ACACACACACAC downstream_gene_variant LIHC-US 6 125402633 125402633 single base substitution G T 3_prime_UTR_variant LIHC-US 6 125402633 125402633 single base substitution G T downstream_gene_variant LIHC-US 6 125402633 125402633 single base substitution G T exon_variant LIHC-US 6 125402633 125402633 single base substitution G T missense_variant G156V 467G>T LIHC-US 6 125402633 125402633 single base substitution G T missense_variant G220V 659G>T LIHC-US 6 125402633 125402633 single base substitution G T missense_variant G277V 830G>T LIHC-US 6 125402633 125402633 single base substitution G T missense_variant G512V 1535G>T LIHC-US 6 125402633 125402633 single base substitution G T missense_variant G74V 221G>T LINC-JP 6 125282756 125282756 single base substitution C T upstream_gene_variant LINC-JP 6 125284224 125284224 single base substitution C T 5_prime_UTR_variant LINC-JP 6 125284224 125284224 single base substitution C T synonymous_variant A178A 534C>T LINC-JP 6 125284224 125284224 single base substitution C T upstream_gene_variant LINC-JP 6 125297221 125297221 single base substitution T G downstream_gene_variant LINC-JP 6 125297221 125297221 single base substitution T G intron_variant LINC-JP 6 125330249 125330249 insertion of <=200bp - TGT intron_variant LINC-JP 6 125340979 125340979 deletion of <=200bp T - intron_variant LINC-JP 6 125353119 125353119 single base substitution T C intron_variant LINC-JP 6 125366433 125366433 single base substitution A G 3_prime_UTR_variant LINC-JP 6 125366433 125366433 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 6 125366433 125366433 single base substitution A G exon_variant LINC-JP 6 125366433 125366433 single base substitution A G missense_variant Y28C 83A>G LINC-JP 6 125366433 125366433 single base substitution A G missense_variant Y320C 959A>G LINC-JP 6 125366433 125366433 single base substitution A G missense_variant Y85C 254A>G LINC-JP 6 125366433 125366433 single base substitution A G upstream_gene_variant LINC-JP 6 125366508 125366508 single base substitution C T 3_prime_UTR_variant LINC-JP 6 125366508 125366508 single base substitution C T 5_prime_UTR_variant LINC-JP 6 125366508 125366508 single base substitution C T exon_variant LINC-JP 6 125366508 125366508 single base substitution C T missense_variant P110L 329C>T LINC-JP 6 125366508 125366508 single base substitution C T missense_variant P345L 1034C>T LINC-JP 6 125366508 125366508 single base substitution C T missense_variant P53L 158C>T LINC-JP 6 125366508 125366508 single base substitution C T upstream_gene_variant LINC-JP 6 125369451 125369451 single base substitution T C downstream_gene_variant LINC-JP 6 125369451 125369451 single base substitution T C intron_variant LINC-JP 6 125400804 125400804 single base substitution T C downstream_gene_variant LINC-JP 6 125400804 125400804 single base substitution T C intron_variant LINC-JP 6 125403604 125403604 deletion of <=200bp T - frameshift_variant I230 LINC-JP 6 125403604 125403604 deletion of <=200bp T - intron_variant LINC-JP 6 125408915 125408915 single base substitution A G 3_prime_UTR_variant LINC-JP 6 125408915 125408915 single base substitution A G downstream_gene_variant LINC-JP 6 125411257 125411257 single base substitution C G 3_prime_UTR_variant LIRI-JP 6 125280231 125280231 single base substitution T C upstream_gene_variant LIRI-JP 6 125281959 125281959 single base substitution G C upstream_gene_variant LIRI-JP 6 125282555 125282555 single base substitution C T upstream_gene_variant LIRI-JP 6 125285299 125285299 single base substitution A C intron_variant LIRI-JP 6 125285536 125285536 single base substitution A G intron_variant LIRI-JP 6 125287324 125287324 single base substitution A G intron_variant LIRI-JP 6 125287360 125287360 single base substitution G A intron_variant LIRI-JP 6 125288947 125288947 single base substitution A T intron_variant LIRI-JP 6 125288947 125288947 single base substitution A T upstream_gene_variant LIRI-JP 6 125294314 125294314 single base substitution C A downstream_gene_variant LIRI-JP 6 125294314 125294314 single base substitution C A intron_variant LIRI-JP 6 125294482 125294482 single base substitution T A downstream_gene_variant LIRI-JP 6 125294482 125294482 single base substitution T A intron_variant LIRI-JP 6 125295576 125295576 single base substitution A G downstream_gene_variant LIRI-JP 6 125295576 125295576 single base substitution A G intron_variant LIRI-JP 6 125300529 125300529 single base substitution A C intron_variant LIRI-JP 6 125300529 125300529 single base substitution A C upstream_gene_variant LIRI-JP 6 125300542 125300559 deletion of <=200bp AAGTGACCATGACTGGAA - intron_variant LIRI-JP 6 125300542 125300559 deletion of <=200bp AAGTGACCATGACTGGAA - upstream_gene_variant LIRI-JP 6 125304280 125304280 single base substitution A G intron_variant LIRI-JP 6 125304280 125304280 single base substitution A G upstream_gene_variant LIRI-JP 6 125306434 125306434 single base substitution T C intron_variant LIRI-JP 6 125308165 125308165 single base substitution A G intron_variant LIRI-JP 6 125309188 125309188 single base substitution G A intron_variant LIRI-JP 6 125311110 125311110 single base substitution A G intron_variant LIRI-JP 6 125312342 125312342 single base substitution G A intron_variant LIRI-JP 6 125312923 125312923 single base substitution T C intron_variant LIRI-JP 6 125314128 125314128 single base substitution T G intron_variant LIRI-JP 6 125316687 125316687 single base substitution A G intron_variant LIRI-JP 6 125317395 125317395 single base substitution A G intron_variant LIRI-JP 6 125319393 125319393 single base substitution A G intron_variant LIRI-JP 6 125319674 125319674 single base substitution C T intron_variant LIRI-JP 6 125320031 125320031 single base substitution A G intron_variant LIRI-JP 6 125321014 125321014 single base substitution A G intron_variant LIRI-JP 6 125321798 125321798 single base substitution A G intron_variant LIRI-JP 6 125321841 125321841 single base substitution A G intron_variant LIRI-JP 6 125321848 125321848 single base substitution A G intron_variant LIRI-JP 6 125322712 125322712 single base substitution A T intron_variant LIRI-JP 6 125325512 125325512 single base substitution T C intron_variant LIRI-JP 6 125325512 125325512 single base substitution T C upstream_gene_variant LIRI-JP 6 125325973 125325973 single base substitution T C intron_variant LIRI-JP 6 125325973 125325973 single base substitution T C upstream_gene_variant LIRI-JP 6 125327286 125327286 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 6 125327286 125327286 single base substitution C G intron_variant LIRI-JP 6 125327286 125327286 single base substitution C G upstream_gene_variant LIRI-JP 6 125327818 125327818 single base substitution G T intron_variant LIRI-JP 6 125327818 125327818 single base substitution G T upstream_gene_variant LIRI-JP 6 125334580 125334580 single base substitution A G downstream_gene_variant LIRI-JP 6 125334580 125334580 single base substitution A G intron_variant LIRI-JP 6 125335565 125335565 single base substitution A G downstream_gene_variant LIRI-JP 6 125335565 125335565 single base substitution A G intron_variant LIRI-JP 6 125338708 125338708 single base substitution A G intron_variant LIRI-JP 6 125340793 125340793 single base substitution A C intron_variant LIRI-JP 6 125340979 125340979 deletion of <=200bp T - intron_variant LIRI-JP 6 125341200 125341200 single base substitution C T intron_variant LIRI-JP 6 125342144 125342144 single base substitution A G intron_variant LIRI-JP 6 125343004 125343004 single base substitution G T intron_variant LIRI-JP 6 125344641 125344641 single base substitution C T intron_variant LIRI-JP 6 125344664 125344664 single base substitution G C intron_variant LIRI-JP 6 125346021 125346021 single base substitution G T intron_variant LIRI-JP 6 125348833 125348833 single base substitution A T intron_variant LIRI-JP 6 125349243 125349243 single base substitution T C intron_variant LIRI-JP 6 125353328 125353328 single base substitution G A intron_variant LIRI-JP 6 125353345 125353345 single base substitution A G intron_variant LIRI-JP 6 125353609 125353609 single base substitution A G intron_variant LIRI-JP 6 125354075 125354075 single base substitution T C intron_variant LIRI-JP 6 125357107 125357107 single base substitution A T intron_variant LIRI-JP 6 125359630 125359630 single base substitution A G intron_variant LIRI-JP 6 125359717 125359717 single base substitution A G intron_variant LIRI-JP 6 125361234 125361234 single base substitution G C intron_variant LIRI-JP 6 125363220 125363220 single base substitution T A intron_variant LIRI-JP 6 125363220 125363220 single base substitution T A upstream_gene_variant LIRI-JP 6 125363307 125363307 single base substitution T A intron_variant LIRI-JP 6 125363307 125363307 single base substitution T A upstream_gene_variant LIRI-JP 6 125365867 125365867 single base substitution A G intron_variant LIRI-JP 6 125365867 125365867 single base substitution A G upstream_gene_variant LIRI-JP 6 125366489 125366489 single base substitution A G 3_prime_UTR_variant LIRI-JP 6 125366489 125366489 single base substitution A G 5_prime_UTR_variant LIRI-JP 6 125366489 125366489 single base substitution A G exon_variant LIRI-JP 6 125366489 125366489 single base substitution A G missense_variant I104V 310A>G LIRI-JP 6 125366489 125366489 single base substitution A G missense_variant I339V 1015A>G LIRI-JP 6 125366489 125366489 single base substitution A G missense_variant I47V 139A>G LIRI-JP 6 125366489 125366489 single base substitution A G upstream_gene_variant LIRI-JP 6 125367061 125367061 single base substitution A G downstream_gene_variant LIRI-JP 6 125367061 125367061 single base substitution A G intron_variant LIRI-JP 6 125367061 125367061 single base substitution A G upstream_gene_variant LIRI-JP 6 125367498 125367498 single base substitution A T downstream_gene_variant LIRI-JP 6 125367498 125367498 single base substitution A T intron_variant LIRI-JP 6 125367498 125367498 single base substitution A T upstream_gene_variant LIRI-JP 6 125368034 125368034 single base substitution A G downstream_gene_variant LIRI-JP 6 125368034 125368034 single base substitution A G intron_variant LIRI-JP 6 125368034 125368034 single base substitution A G upstream_gene_variant LIRI-JP 6 125373039 125373039 single base substitution T G intron_variant LIRI-JP 6 125373729 125373729 single base substitution A G intron_variant LIRI-JP 6 125376931 125376931 deletion of <=200bp A - intron_variant LIRI-JP 6 125378197 125378197 single base substitution G A intron_variant LIRI-JP 6 125380012 125380012 single base substitution C T intron_variant LIRI-JP 6 125380723 125380723 single base substitution G C intron_variant LIRI-JP 6 125382027 125382027 single base substitution G A intron_variant LIRI-JP 6 125383137 125383137 single base substitution C A intron_variant LIRI-JP 6 125383322 125383322 single base substitution A G intron_variant LIRI-JP 6 125384517 125384517 single base substitution G T intron_variant LIRI-JP 6 125385249 125385249 single base substitution C T intron_variant LIRI-JP 6 125386528 125386528 single base substitution G C intron_variant LIRI-JP 6 125391473 125391473 single base substitution T C intron_variant LIRI-JP 6 125394031 125394031 single base substitution G T intron_variant LIRI-JP 6 125394998 125394998 single base substitution C T intron_variant LIRI-JP 6 125395150 125395150 single base substitution G A intron_variant LIRI-JP 6 125396715 125396715 single base substitution A C intron_variant LIRI-JP 6 125397250 125397250 single base substitution A G intron_variant LIRI-JP 6 125398765 125398765 single base substitution G A downstream_gene_variant LIRI-JP 6 125398765 125398765 single base substitution G A intron_variant LIRI-JP 6 125400609 125400609 single base substitution G A downstream_gene_variant LIRI-JP 6 125400609 125400609 single base substitution G A intron_variant LIRI-JP 6 125402850 125402850 single base substitution T C downstream_gene_variant LIRI-JP 6 125402850 125402850 single base substitution T C intron_variant LIRI-JP 6 125403627 125403627 single base substitution A G intron_variant LIRI-JP 6 125403627 125403627 single base substitution A G missense_variant S238G 712A>G LIRI-JP 6 125405140 125405140 single base substitution T A 3_prime_UTR_variant LIRI-JP 6 125405140 125405140 single base substitution T A downstream_gene_variant LIRI-JP 6 125406860 125406860 single base substitution T G 3_prime_UTR_variant LIRI-JP 6 125406860 125406860 single base substitution T G downstream_gene_variant LIRI-JP 6 125407905 125407905 single base substitution A G 3_prime_UTR_variant LIRI-JP 6 125407905 125407905 single base substitution A G downstream_gene_variant LIRI-JP 6 125409570 125409587 deletion of <=200bp ACTAATTGTAAGGCTGTA - 3_prime_UTR_variant LIRI-JP 6 125409570 125409587 deletion of <=200bp ACTAATTGTAAGGCTGTA - downstream_gene_variant LIRI-JP 6 125410900 125410900 single base substitution G A 3_prime_UTR_variant LIRI-JP 6 125412805 125412805 single base substitution A C 3_prime_UTR_variant LIRI-JP 6 125415390 125415390 single base substitution G A downstream_gene_variant LUSC-KR 6 125280177 125280177 single base substitution G C upstream_gene_variant LUSC-KR 6 125282033 125282033 single base substitution A G upstream_gene_variant LUSC-KR 6 125284706 125284706 single base substitution C G intron_variant LUSC-KR 6 125292320 125292320 single base substitution A T intron_variant LUSC-KR 6 125292320 125292320 single base substitution A T upstream_gene_variant LUSC-KR 6 125295422 125295422 single base substitution G T downstream_gene_variant LUSC-KR 6 125295422 125295422 single base substitution G T intron_variant LUSC-KR 6 125298056 125298056 single base substitution G A intron_variant LUSC-KR 6 125303446 125303446 single base substitution G C intron_variant LUSC-KR 6 125303446 125303446 single base substitution G C upstream_gene_variant LUSC-KR 6 125304442 125304442 single base substitution C G intron_variant LUSC-KR 6 125304442 125304442 single base substitution C G upstream_gene_variant LUSC-KR 6 125304486 125304486 single base substitution G T intron_variant LUSC-KR 6 125304486 125304486 single base substitution G T upstream_gene_variant LUSC-KR 6 125308159 125308159 single base substitution T C intron_variant LUSC-KR 6 125309603 125309603 single base substitution G C intron_variant LUSC-KR 6 125310129 125310129 single base substitution G A intron_variant LUSC-KR 6 125312278 125312278 single base substitution C G intron_variant LUSC-KR 6 125313780 125313780 single base substitution G T intron_variant LUSC-KR 6 125314529 125314529 single base substitution C T intron_variant LUSC-KR 6 125320540 125320540 single base substitution G A intron_variant LUSC-KR 6 125323204 125323204 single base substitution C T intron_variant LUSC-KR 6 125327236 125327236 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 6 125327236 125327236 single base substitution A G intron_variant LUSC-KR 6 125327236 125327236 single base substitution A G upstream_gene_variant LUSC-KR 6 125334066 125334066 single base substitution G T downstream_gene_variant LUSC-KR 6 125334066 125334066 single base substitution G T intron_variant LUSC-KR 6 125344979 125344979 single base substitution A G intron_variant LUSC-KR 6 125350417 125350417 single base substitution A G intron_variant LUSC-KR 6 125352181 125352181 single base substitution G A intron_variant LUSC-KR 6 125352451 125352451 single base substitution G T intron_variant LUSC-KR 6 125353411 125353411 single base substitution G T intron_variant LUSC-KR 6 125354825 125354825 single base substitution G C intron_variant LUSC-KR 6 125355719 125355719 single base substitution G T intron_variant LUSC-KR 6 125355909 125355909 single base substitution A C intron_variant LUSC-KR 6 125356147 125356147 single base substitution C T intron_variant LUSC-KR 6 125359243 125359243 single base substitution G A intron_variant LUSC-KR 6 125361943 125361943 single base substitution A G intron_variant LUSC-KR 6 125361943 125361943 single base substitution A G upstream_gene_variant LUSC-KR 6 125366883 125366883 single base substitution A G downstream_gene_variant LUSC-KR 6 125366883 125366883 single base substitution A G intron_variant LUSC-KR 6 125366883 125366883 single base substitution A G upstream_gene_variant LUSC-KR 6 125371839 125371839 single base substitution A T intron_variant LUSC-KR 6 125380921 125380921 single base substitution A T intron_variant LUSC-KR 6 125385754 125385754 single base substitution G A intron_variant LUSC-KR 6 125390354 125390354 single base substitution T C intron_variant LUSC-KR 6 125391643 125391643 single base substitution A G intron_variant LUSC-KR 6 125391962 125391962 single base substitution G C intron_variant LUSC-KR 6 125400682 125400682 single base substitution A C downstream_gene_variant LUSC-KR 6 125400682 125400682 single base substitution A C intron_variant LUSC-KR 6 125400974 125400974 single base substitution C T downstream_gene_variant LUSC-KR 6 125400974 125400974 single base substitution C T intron_variant LUSC-KR 6 125402778 125402778 single base substitution G C downstream_gene_variant LUSC-KR 6 125402778 125402778 single base substitution G C intron_variant LUSC-KR 6 125403732 125403732 single base substitution G A intron_variant LUSC-KR 6 125404311 125404311 single base substitution A G 3_prime_UTR_variant LUSC-KR 6 125404311 125404311 single base substitution A G downstream_gene_variant LUSC-KR 6 125404709 125404709 single base substitution A T 3_prime_UTR_variant LUSC-KR 6 125404709 125404709 single base substitution A T downstream_gene_variant LUSC-KR 6 125407408 125407408 single base substitution C T 3_prime_UTR_variant LUSC-KR 6 125407408 125407408 single base substitution C T downstream_gene_variant LUSC-KR 6 125418212 125418212 single base substitution G A downstream_gene_variant MALY-DE 6 125278810 125278810 insertion of <=200bp - A upstream_gene_variant MALY-DE 6 125279020 125279020 single base substitution A C upstream_gene_variant MALY-DE 6 125285124 125285124 single base substitution T A intron_variant MALY-DE 6 125288929 125288929 deletion of <=200bp T - intron_variant MALY-DE 6 125288929 125288929 deletion of <=200bp T - upstream_gene_variant MALY-DE 6 125292361 125292361 single base substitution A T intron_variant MALY-DE 6 125292361 125292361 single base substitution A T upstream_gene_variant MALY-DE 6 125292517 125292517 single base substitution T G exon_variant MALY-DE 6 125292517 125292517 single base substitution T G intron_variant MALY-DE 6 125292632 125292632 single base substitution T C exon_variant MALY-DE 6 125292632 125292632 single base substitution T C intron_variant MALY-DE 6 125294645 125294645 single base substitution G A downstream_gene_variant MALY-DE 6 125294645 125294645 single base substitution G A intron_variant MALY-DE 6 125294846 125294846 single base substitution A G downstream_gene_variant MALY-DE 6 125294846 125294846 single base substitution A G intron_variant MALY-DE 6 125294967 125294967 single base substitution A T downstream_gene_variant MALY-DE 6 125294967 125294967 single base substitution A T intron_variant MALY-DE 6 125296906 125296906 single base substitution A C downstream_gene_variant MALY-DE 6 125296906 125296906 single base substitution A C intron_variant MALY-DE 6 125299711 125299711 single base substitution C T intron_variant MALY-DE 6 125299711 125299711 single base substitution C T upstream_gene_variant MALY-DE 6 125300852 125300852 single base substitution C T intron_variant MALY-DE 6 125300852 125300852 single base substitution C T upstream_gene_variant MALY-DE 6 125302194 125302194 single base substitution G T intron_variant MALY-DE 6 125302194 125302194 single base substitution G T upstream_gene_variant MALY-DE 6 125308072 125308072 single base substitution T C intron_variant MALY-DE 6 125309511 125309511 single base substitution C T intron_variant MALY-DE 6 125309813 125309813 single base substitution A G intron_variant MALY-DE 6 125313395 125313395 single base substitution C T intron_variant MALY-DE 6 125317020 125317020 single base substitution A G intron_variant MALY-DE 6 125317117 125317117 deletion of <=200bp T - intron_variant MALY-DE 6 125319623 125319623 deletion of <=200bp T - intron_variant MALY-DE 6 125320467 125320467 single base substitution T C intron_variant MALY-DE 6 125321462 125321462 single base substitution G A intron_variant MALY-DE 6 125322540 125322540 single base substitution C T intron_variant MALY-DE 6 125326713 125326713 single base substitution A G intron_variant MALY-DE 6 125326713 125326713 single base substitution A G upstream_gene_variant MALY-DE 6 125328286 125328286 single base substitution T C intron_variant MALY-DE 6 125328286 125328286 single base substitution T C upstream_gene_variant MALY-DE 6 125328730 125328730 single base substitution C A intron_variant MALY-DE 6 125328730 125328730 single base substitution C A upstream_gene_variant MALY-DE 6 125328915 125328915 single base substitution A C intron_variant MALY-DE 6 125328915 125328915 single base substitution A C upstream_gene_variant MALY-DE 6 125330575 125330575 single base substitution T G downstream_gene_variant MALY-DE 6 125330575 125330575 single base substitution T G exon_variant MALY-DE 6 125330575 125330575 single base substitution T G intron_variant MALY-DE 6 125337400 125337400 single base substitution A C intron_variant MALY-DE 6 125338897 125338897 deletion of <=200bp T - intron_variant MALY-DE 6 125340985 125340985 single base substitution G A intron_variant MALY-DE 6 125343505 125343505 deletion of <=200bp G - intron_variant MALY-DE 6 125349366 125349366 insertion of <=200bp - T intron_variant MALY-DE 6 125353202 125353202 single base substitution A G intron_variant MALY-DE 6 125353613 125353613 insertion of <=200bp - AT intron_variant MALY-DE 6 125362343 125362343 single base substitution T G intron_variant MALY-DE 6 125362343 125362343 single base substitution T G upstream_gene_variant MALY-DE 6 125364932 125364932 single base substitution A G intron_variant MALY-DE 6 125364932 125364932 single base substitution A G upstream_gene_variant MALY-DE 6 125366922 125366922 deletion of <=200bp T - downstream_gene_variant MALY-DE 6 125366922 125366922 deletion of <=200bp T - intron_variant MALY-DE 6 125366922 125366922 deletion of <=200bp T - upstream_gene_variant MALY-DE 6 125373431 125373432 deletion of <=200bp TG - intron_variant MALY-DE 6 125373701 125373701 single base substitution G A intron_variant MALY-DE 6 125374431 125374431 single base substitution A G intron_variant MALY-DE 6 125374577 125374577 single base substitution T A intron_variant MALY-DE 6 125388163 125388163 single base substitution T A intron_variant MALY-DE 6 125388201 125388201 single base substitution G A intron_variant MALY-DE 6 125390842 125390842 single base substitution A G intron_variant MALY-DE 6 125395756 125395756 single base substitution A G intron_variant MALY-DE 6 125399268 125399268 single base substitution G A downstream_gene_variant MALY-DE 6 125399268 125399268 single base substitution G A intron_variant MALY-DE 6 125405154 125405154 deletion of <=200bp T - 3_prime_UTR_variant MALY-DE 6 125405154 125405154 deletion of <=200bp T - downstream_gene_variant MALY-DE 6 125405442 125405442 single base substitution T C 3_prime_UTR_variant MALY-DE 6 125405442 125405442 single base substitution T C downstream_gene_variant MALY-DE 6 125405554 125405554 deletion of <=200bp A - 3_prime_UTR_variant MALY-DE 6 125405554 125405554 deletion of <=200bp A - downstream_gene_variant MALY-DE 6 125408848 125408848 single base substitution G A 3_prime_UTR_variant MALY-DE 6 125408848 125408848 single base substitution G A downstream_gene_variant MALY-DE 6 125409137 125409137 single base substitution T A 3_prime_UTR_variant MALY-DE 6 125409137 125409137 single base substitution T A downstream_gene_variant MALY-DE 6 125409454 125409454 single base substitution A T 3_prime_UTR_variant MALY-DE 6 125409454 125409454 single base substitution A T downstream_gene_variant MALY-DE 6 125409928 125409928 single base substitution A G 3_prime_UTR_variant MALY-DE 6 125411087 125411087 single base substitution A C 3_prime_UTR_variant MALY-DE 6 125413778 125413778 single base substitution A C 3_prime_UTR_variant MALY-DE 6 125414267 125414267 single base substitution A G downstream_gene_variant MALY-DE 6 125416020 125416020 single base substitution T G downstream_gene_variant MALY-DE 6 125418075 125418075 single base substitution G A downstream_gene_variant MALY-DE 6 125418778 125418778 single base substitution A C downstream_gene_variant MELA-AU 6 125278863 125278863 single base substitution G A upstream_gene_variant MELA-AU 6 125278924 125278924 single base substitution A T upstream_gene_variant MELA-AU 6 125279090 125279090 single base substitution C T upstream_gene_variant MELA-AU 6 125279160 125279160 single base substitution G A upstream_gene_variant MELA-AU 6 125279384 125279384 single base substitution C T upstream_gene_variant MELA-AU 6 125279446 125279446 single base substitution G A upstream_gene_variant MELA-AU 6 125279516 125279516 single base substitution G A upstream_gene_variant MELA-AU 6 125279608 125279608 single base substitution G A upstream_gene_variant MELA-AU 6 125279612 125279612 single base substitution G A upstream_gene_variant MELA-AU 6 125279884 125279884 single base substitution G A upstream_gene_variant MELA-AU 6 125279987 125279987 single base substitution C T upstream_gene_variant MELA-AU 6 125280197 125280197 single base substitution G A upstream_gene_variant MELA-AU 6 125280258 125280258 single base substitution G A upstream_gene_variant MELA-AU 6 125280340 125280340 single base substitution G A upstream_gene_variant MELA-AU 6 125280358 125280358 single base substitution T C upstream_gene_variant MELA-AU 6 125280439 125280439 single base substitution G A upstream_gene_variant MELA-AU 6 125280954 125280954 single base substitution G A upstream_gene_variant MELA-AU 6 125281133 125281133 single base substitution G A upstream_gene_variant MELA-AU 6 125281243 125281243 single base substitution A G upstream_gene_variant MELA-AU 6 125281895 125281895 single base substitution G A upstream_gene_variant MELA-AU 6 125282235 125282235 single base substitution C T upstream_gene_variant MELA-AU 6 125282418 125282418 single base substitution G A upstream_gene_variant MELA-AU 6 125282466 125282466 single base substitution G A upstream_gene_variant MELA-AU 6 125282551 125282551 single base substitution G A upstream_gene_variant MELA-AU 6 125282568 125282568 single base substitution C T upstream_gene_variant MELA-AU 6 125282623 125282623 single base substitution C T upstream_gene_variant MELA-AU 6 125282662 125282662 single base substitution C T upstream_gene_variant MELA-AU 6 125282762 125282762 single base substitution C T upstream_gene_variant MELA-AU 6 125283184 125283184 single base substitution C T upstream_gene_variant MELA-AU 6 125283758 125283758 single base substitution G A missense_variant G23D 68G>A MELA-AU 6 125283758 125283758 single base substitution G A upstream_gene_variant MELA-AU 6 125283983 125283983 single base substitution C T 5_prime_UTR_variant MELA-AU 6 125283983 125283983 single base substitution C T missense_variant P98L 293C>T MELA-AU 6 125283983 125283983 single base substitution C T upstream_gene_variant MELA-AU 6 125284336 125284336 single base substitution C T 5_prime_UTR_variant MELA-AU 6 125284336 125284336 single base substitution C T missense_variant L216F 646C>T MELA-AU 6 125284336 125284336 single base substitution C T upstream_gene_variant MELA-AU 6 125284623 125284623 single base substitution G A intron_variant MELA-AU 6 125284637 125284637 single base substitution C G intron_variant MELA-AU 6 125284840 125284840 single base substitution C T intron_variant MELA-AU 6 125285421 125285421 single base substitution C T intron_variant MELA-AU 6 125286263 125286263 single base substitution G A intron_variant MELA-AU 6 125286496 125286496 single base substitution G A intron_variant MELA-AU 6 125286504 125286504 single base substitution G A intron_variant MELA-AU 6 125286688 125286688 single base substitution C T intron_variant MELA-AU 6 125286823 125286823 single base substitution C T intron_variant MELA-AU 6 125286968 125286968 single base substitution C T intron_variant MELA-AU 6 125287043 125287043 single base substitution C T intron_variant MELA-AU 6 125287137 125287137 single base substitution C T intron_variant MELA-AU 6 125287154 125287154 single base substitution A T intron_variant MELA-AU 6 125287442 125287442 single base substitution C T intron_variant MELA-AU 6 125287442 125287442 single base substitution C T upstream_gene_variant MELA-AU 6 125287451 125287451 single base substitution C T intron_variant MELA-AU 6 125287451 125287451 single base substitution C T upstream_gene_variant MELA-AU 6 125288120 125288120 single base substitution G A intron_variant MELA-AU 6 125288120 125288120 single base substitution G A upstream_gene_variant MELA-AU 6 125288261 125288261 single base substitution C T intron_variant MELA-AU 6 125288261 125288261 single base substitution C T upstream_gene_variant MELA-AU 6 125288393 125288393 single base substitution C T intron_variant MELA-AU 6 125288393 125288393 single base substitution C T upstream_gene_variant MELA-AU 6 125289140 125289140 single base substitution G A intron_variant MELA-AU 6 125289140 125289140 single base substitution G A upstream_gene_variant MELA-AU 6 125289339 125289339 single base substitution C T intron_variant MELA-AU 6 125289339 125289339 single base substitution C T upstream_gene_variant MELA-AU 6 125289434 125289434 single base substitution G A intron_variant MELA-AU 6 125289434 125289434 single base substitution G A upstream_gene_variant MELA-AU 6 125289436 125289436 single base substitution G A intron_variant MELA-AU 6 125289436 125289436 single base substitution G A upstream_gene_variant MELA-AU 6 125289444 125289444 single base substitution G A intron_variant MELA-AU 6 125289444 125289444 single base substitution G A upstream_gene_variant MELA-AU 6 125289543 125289543 single base substitution C T intron_variant MELA-AU 6 125289543 125289543 single base substitution C T upstream_gene_variant MELA-AU 6 125289864 125289864 single base substitution G A intron_variant MELA-AU 6 125289864 125289864 single base substitution G A upstream_gene_variant MELA-AU 6 125289871 125289871 single base substitution C T intron_variant MELA-AU 6 125289871 125289871 single base substitution C T upstream_gene_variant MELA-AU 6 125289904 125289904 single base substitution C T intron_variant MELA-AU 6 125289904 125289904 single base substitution C T upstream_gene_variant MELA-AU 6 125290126 125290126 single base substitution G A intron_variant MELA-AU 6 125290126 125290126 single base substitution G A upstream_gene_variant MELA-AU 6 125290233 125290233 single base substitution C T intron_variant MELA-AU 6 125290233 125290233 single base substitution C T upstream_gene_variant MELA-AU 6 125290538 125290538 single base substitution G A intron_variant MELA-AU 6 125290538 125290538 single base substitution G A upstream_gene_variant MELA-AU 6 125290825 125290825 single base substitution C T intron_variant MELA-AU 6 125290825 125290825 single base substitution C T upstream_gene_variant MELA-AU 6 125291028 125291028 single base substitution G A intron_variant MELA-AU 6 125291028 125291028 single base substitution G A upstream_gene_variant MELA-AU 6 125291031 125291031 single base substitution G A intron_variant MELA-AU 6 125291031 125291031 single base substitution G A upstream_gene_variant MELA-AU 6 125291062 125291062 single base substitution A T intron_variant MELA-AU 6 125291062 125291062 single base substitution A T upstream_gene_variant MELA-AU 6 125291066 125291066 single base substitution C T intron_variant MELA-AU 6 125291066 125291066 single base substitution C T upstream_gene_variant MELA-AU 6 125291077 125291077 single base substitution C T intron_variant MELA-AU 6 125291077 125291077 single base substitution C T upstream_gene_variant MELA-AU 6 125291089 125291089 single base substitution A G intron_variant MELA-AU 6 125291089 125291089 single base substitution A G upstream_gene_variant MELA-AU 6 125292064 125292064 single base substitution G A intron_variant MELA-AU 6 125292064 125292064 single base substitution G A upstream_gene_variant MELA-AU 6 125292093 125292093 single base substitution A T intron_variant MELA-AU 6 125292093 125292093 single base substitution A T upstream_gene_variant MELA-AU 6 125292385 125292385 single base substitution C T intron_variant MELA-AU 6 125292385 125292385 single base substitution C T upstream_gene_variant MELA-AU 6 125292432 125292433 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 6 125292432 125292433 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 125292538 125292538 single base substitution G A exon_variant MELA-AU 6 125292538 125292538 single base substitution G A intron_variant MELA-AU 6 125292692 125292692 single base substitution C T exon_variant MELA-AU 6 125292692 125292692 single base substitution C T intron_variant MELA-AU 6 125292693 125292693 single base substitution C T exon_variant MELA-AU 6 125292693 125292693 single base substitution C T intron_variant MELA-AU 6 125292945 125292945 single base substitution C T downstream_gene_variant MELA-AU 6 125292945 125292945 single base substitution C T intron_variant MELA-AU 6 125292979 125292979 single base substitution T C downstream_gene_variant MELA-AU 6 125292979 125292979 single base substitution T C intron_variant MELA-AU 6 125293011 125293011 single base substitution C T downstream_gene_variant MELA-AU 6 125293011 125293011 single base substitution C T intron_variant MELA-AU 6 125293244 125293244 single base substitution C T downstream_gene_variant MELA-AU 6 125293244 125293244 single base substitution C T intron_variant MELA-AU 6 125293603 125293603 single base substitution C T downstream_gene_variant MELA-AU 6 125293603 125293603 single base substitution C T intron_variant MELA-AU 6 125293772 125293772 single base substitution C T downstream_gene_variant MELA-AU 6 125293772 125293772 single base substitution C T intron_variant MELA-AU 6 125293836 125293836 single base substitution T A downstream_gene_variant MELA-AU 6 125293836 125293836 single base substitution T A intron_variant MELA-AU 6 125293873 125293873 single base substitution C T downstream_gene_variant MELA-AU 6 125293873 125293873 single base substitution C T intron_variant MELA-AU 6 125293953 125293953 single base substitution C T downstream_gene_variant MELA-AU 6 125293953 125293953 single base substitution C T intron_variant MELA-AU 6 125293986 125293986 single base substitution T G downstream_gene_variant MELA-AU 6 125293986 125293986 single base substitution T G intron_variant MELA-AU 6 125294105 125294105 single base substitution T A downstream_gene_variant MELA-AU 6 125294105 125294105 single base substitution T A intron_variant MELA-AU 6 125294273 125294273 single base substitution C T downstream_gene_variant MELA-AU 6 125294273 125294273 single base substitution C T intron_variant MELA-AU 6 125294333 125294333 single base substitution C T downstream_gene_variant MELA-AU 6 125294333 125294333 single base substitution C T intron_variant MELA-AU 6 125294684 125294684 single base substitution G A downstream_gene_variant MELA-AU 6 125294684 125294684 single base substitution G A intron_variant MELA-AU 6 125295047 125295047 single base substitution C T downstream_gene_variant MELA-AU 6 125295047 125295047 single base substitution C T intron_variant MELA-AU 6 125295286 125295286 single base substitution C A downstream_gene_variant MELA-AU 6 125295286 125295286 single base substitution C A intron_variant MELA-AU 6 125295475 125295475 single base substitution C T downstream_gene_variant MELA-AU 6 125295475 125295475 single base substitution C T intron_variant MELA-AU 6 125295819 125295819 single base substitution G A downstream_gene_variant MELA-AU 6 125295819 125295819 single base substitution G A intron_variant MELA-AU 6 125295984 125295984 single base substitution C T downstream_gene_variant MELA-AU 6 125295984 125295984 single base substitution C T intron_variant MELA-AU 6 125296049 125296049 single base substitution C T downstream_gene_variant MELA-AU 6 125296049 125296049 single base substitution C T intron_variant MELA-AU 6 125296070 125296070 single base substitution C T downstream_gene_variant MELA-AU 6 125296070 125296070 single base substitution C T intron_variant MELA-AU 6 125296179 125296179 single base substitution C T downstream_gene_variant MELA-AU 6 125296179 125296179 single base substitution C T intron_variant MELA-AU 6 125296511 125296511 single base substitution G A downstream_gene_variant MELA-AU 6 125296511 125296511 single base substitution G A intron_variant MELA-AU 6 125296738 125296738 single base substitution G A downstream_gene_variant MELA-AU 6 125296738 125296738 single base substitution G A intron_variant MELA-AU 6 125296797 125296797 single base substitution G A downstream_gene_variant MELA-AU 6 125296797 125296797 single base substitution G A intron_variant MELA-AU 6 125297083 125297083 single base substitution C T downstream_gene_variant MELA-AU 6 125297083 125297083 single base substitution C T intron_variant MELA-AU 6 125297344 125297344 single base substitution A C downstream_gene_variant MELA-AU 6 125297344 125297344 single base substitution A C intron_variant MELA-AU 6 125297448 125297448 single base substitution C A downstream_gene_variant MELA-AU 6 125297448 125297448 single base substitution C A intron_variant MELA-AU 6 125298051 125298051 single base substitution C T intron_variant MELA-AU 6 125298061 125298061 single base substitution G A intron_variant MELA-AU 6 125298092 125298092 single base substitution G A intron_variant MELA-AU 6 125298106 125298106 single base substitution G A intron_variant MELA-AU 6 125298118 125298118 single base substitution T C intron_variant MELA-AU 6 125298120 125298120 single base substitution C T intron_variant MELA-AU 6 125298134 125298134 single base substitution C T intron_variant MELA-AU 6 125298353 125298353 single base substitution G A intron_variant MELA-AU 6 125298376 125298376 single base substitution G A intron_variant MELA-AU 6 125298497 125298497 single base substitution C T intron_variant MELA-AU 6 125298661 125298661 single base substitution C T intron_variant MELA-AU 6 125298691 125298691 single base substitution C T intron_variant MELA-AU 6 125298712 125298712 single base substitution C T intron_variant MELA-AU 6 125298932 125298932 single base substitution G A intron_variant MELA-AU 6 125298988 125298988 single base substitution G A intron_variant MELA-AU 6 125299051 125299051 single base substitution C T intron_variant MELA-AU 6 125299187 125299187 single base substitution G A intron_variant MELA-AU 6 125299364 125299364 single base substitution C T intron_variant MELA-AU 6 125299369 125299369 single base substitution G A intron_variant MELA-AU 6 125299422 125299422 single base substitution C T intron_variant MELA-AU 6 125299474 125299474 single base substitution T A intron_variant MELA-AU 6 125299658 125299658 single base substitution C T intron_variant MELA-AU 6 125299658 125299658 single base substitution C T upstream_gene_variant MELA-AU 6 125299684 125299684 single base substitution C T intron_variant MELA-AU 6 125299684 125299684 single base substitution C T upstream_gene_variant MELA-AU 6 125299797 125299797 single base substitution C T intron_variant MELA-AU 6 125299797 125299797 single base substitution C T upstream_gene_variant MELA-AU 6 125300139 125300139 single base substitution G A intron_variant MELA-AU 6 125300139 125300139 single base substitution G A upstream_gene_variant MELA-AU 6 125300222 125300222 single base substitution C T intron_variant MELA-AU 6 125300222 125300222 single base substitution C T upstream_gene_variant MELA-AU 6 125300261 125300261 single base substitution C T intron_variant MELA-AU 6 125300261 125300261 single base substitution C T upstream_gene_variant MELA-AU 6 125300319 125300319 single base substitution C T intron_variant MELA-AU 6 125300319 125300319 single base substitution C T upstream_gene_variant MELA-AU 6 125300491 125300491 single base substitution T C intron_variant MELA-AU 6 125300491 125300491 single base substitution T C upstream_gene_variant MELA-AU 6 125300737 125300737 single base substitution G A intron_variant MELA-AU 6 125300737 125300737 single base substitution G A upstream_gene_variant MELA-AU 6 125300749 125300749 single base substitution T C intron_variant MELA-AU 6 125300749 125300749 single base substitution T C upstream_gene_variant MELA-AU 6 125300774 125300774 single base substitution G A intron_variant MELA-AU 6 125300774 125300774 single base substitution G A upstream_gene_variant MELA-AU 6 125300810 125300810 single base substitution C T intron_variant MELA-AU 6 125300810 125300810 single base substitution C T upstream_gene_variant MELA-AU 6 125300853 125300853 single base substitution T C intron_variant MELA-AU 6 125300853 125300853 single base substitution T C upstream_gene_variant MELA-AU 6 125300875 125300875 single base substitution G A intron_variant MELA-AU 6 125300875 125300875 single base substitution G A upstream_gene_variant MELA-AU 6 125300879 125300879 single base substitution G C intron_variant MELA-AU 6 125300879 125300879 single base substitution G C upstream_gene_variant MELA-AU 6 125301143 125301143 single base substitution G A intron_variant MELA-AU 6 125301143 125301143 single base substitution G A upstream_gene_variant MELA-AU 6 125301262 125301262 single base substitution G A intron_variant MELA-AU 6 125301262 125301262 single base substitution G A upstream_gene_variant MELA-AU 6 125301508 125301508 single base substitution G A intron_variant MELA-AU 6 125301508 125301508 single base substitution G A upstream_gene_variant MELA-AU 6 125301707 125301707 single base substitution C T intron_variant MELA-AU 6 125301707 125301707 single base substitution C T upstream_gene_variant MELA-AU 6 125301813 125301813 single base substitution C T intron_variant MELA-AU 6 125301813 125301813 single base substitution C T upstream_gene_variant MELA-AU 6 125301942 125301942 single base substitution C T intron_variant MELA-AU 6 125301942 125301942 single base substitution C T upstream_gene_variant MELA-AU 6 125301964 125301964 single base substitution C T intron_variant MELA-AU 6 125301964 125301964 single base substitution C T upstream_gene_variant MELA-AU 6 125302192 125302192 single base substitution G A intron_variant MELA-AU 6 125302192 125302192 single base substitution G A upstream_gene_variant MELA-AU 6 125302514 125302514 single base substitution A T intron_variant MELA-AU 6 125302514 125302514 single base substitution A T upstream_gene_variant MELA-AU 6 125302818 125302818 single base substitution G A intron_variant MELA-AU 6 125302818 125302818 single base substitution G A upstream_gene_variant MELA-AU 6 125302828 125302828 single base substitution C T intron_variant MELA-AU 6 125302828 125302828 single base substitution C T upstream_gene_variant MELA-AU 6 125303073 125303073 single base substitution C T intron_variant MELA-AU 6 125303073 125303073 single base substitution C T upstream_gene_variant MELA-AU 6 125303156 125303156 single base substitution G A intron_variant MELA-AU 6 125303156 125303156 single base substitution G A upstream_gene_variant MELA-AU 6 125303218 125303218 single base substitution C T intron_variant MELA-AU 6 125303218 125303218 single base substitution C T upstream_gene_variant MELA-AU 6 125303302 125303302 single base substitution G A intron_variant MELA-AU 6 125303302 125303302 single base substitution G A upstream_gene_variant MELA-AU 6 125303339 125303339 single base substitution C T intron_variant MELA-AU 6 125303339 125303339 single base substitution C T upstream_gene_variant MELA-AU 6 125303378 125303378 single base substitution C T intron_variant MELA-AU 6 125303378 125303378 single base substitution C T upstream_gene_variant MELA-AU 6 125303455 125303455 single base substitution C T intron_variant MELA-AU 6 125303455 125303455 single base substitution C T upstream_gene_variant MELA-AU 6 125303514 125303514 single base substitution G A intron_variant MELA-AU 6 125303514 125303514 single base substitution G A upstream_gene_variant MELA-AU 6 125303589 125303589 single base substitution C T intron_variant MELA-AU 6 125303589 125303589 single base substitution C T upstream_gene_variant MELA-AU 6 125303848 125303848 single base substitution C T intron_variant MELA-AU 6 125303848 125303848 single base substitution C T upstream_gene_variant MELA-AU 6 125304779 125304779 single base substitution G A intron_variant MELA-AU 6 125304797 125304797 single base substitution C T intron_variant MELA-AU 6 125305163 125305163 single base substitution C T intron_variant MELA-AU 6 125305175 125305175 single base substitution G A intron_variant MELA-AU 6 125305206 125305206 single base substitution C T intron_variant MELA-AU 6 125305477 125305477 single base substitution G A intron_variant MELA-AU 6 125305518 125305518 single base substitution C T intron_variant MELA-AU 6 125305664 125305664 single base substitution G A intron_variant MELA-AU 6 125305922 125305922 single base substitution C T intron_variant MELA-AU 6 125306384 125306384 single base substitution G A intron_variant MELA-AU 6 125306789 125306789 single base substitution C T intron_variant MELA-AU 6 125306902 125306902 single base substitution G A intron_variant MELA-AU 6 125306969 125306969 single base substitution G A intron_variant MELA-AU 6 125307205 125307205 single base substitution C T intron_variant MELA-AU 6 125307225 125307225 single base substitution T A intron_variant MELA-AU 6 125307367 125307367 single base substitution C T intron_variant MELA-AU 6 125307437 125307437 single base substitution G A intron_variant MELA-AU 6 125307458 125307458 single base substitution C T intron_variant MELA-AU 6 125307461 125307461 single base substitution C T intron_variant MELA-AU 6 125307748 125307748 single base substitution C T intron_variant MELA-AU 6 125307823 125307823 single base substitution C T intron_variant MELA-AU 6 125308115 125308115 single base substitution G A intron_variant MELA-AU 6 125308345 125308345 single base substitution G A intron_variant MELA-AU 6 125308361 125308361 single base substitution C T intron_variant MELA-AU 6 125308386 125308386 single base substitution C T intron_variant MELA-AU 6 125308564 125308564 single base substitution G A intron_variant MELA-AU 6 125309173 125309173 single base substitution A C intron_variant MELA-AU 6 125309188 125309188 single base substitution G A intron_variant MELA-AU 6 125309334 125309334 single base substitution G A intron_variant MELA-AU 6 125309460 125309460 single base substitution C T intron_variant MELA-AU 6 125309575 125309575 single base substitution G A intron_variant MELA-AU 6 125309613 125309613 single base substitution G A intron_variant MELA-AU 6 125309812 125309812 single base substitution G A intron_variant MELA-AU 6 125309921 125309921 single base substitution T G intron_variant MELA-AU 6 125309925 125309925 single base substitution C T intron_variant MELA-AU 6 125310254 125310254 single base substitution C T intron_variant MELA-AU 6 125310306 125310306 single base substitution A T intron_variant MELA-AU 6 125310566 125310566 single base substitution C T intron_variant MELA-AU 6 125310592 125310592 single base substitution C T intron_variant MELA-AU 6 125310825 125310825 single base substitution C T intron_variant MELA-AU 6 125310860 125310860 single base substitution C T intron_variant MELA-AU 6 125310869 125310869 single base substitution G A intron_variant MELA-AU 6 125310910 125310910 single base substitution C T intron_variant MELA-AU 6 125310935 125310935 single base substitution C T intron_variant MELA-AU 6 125311142 125311142 single base substitution T A intron_variant MELA-AU 6 125311355 125311355 single base substitution C T intron_variant MELA-AU 6 125311404 125311404 single base substitution C T intron_variant MELA-AU 6 125311519 125311519 single base substitution G A intron_variant MELA-AU 6 125311610 125311610 single base substitution C T intron_variant MELA-AU 6 125311674 125311674 single base substitution C T intron_variant MELA-AU 6 125311681 125311681 single base substitution C T intron_variant MELA-AU 6 125311709 125311709 single base substitution A G intron_variant MELA-AU 6 125311813 125311813 single base substitution C T intron_variant MELA-AU 6 125311814 125311814 single base substitution C T intron_variant MELA-AU 6 125311958 125311958 single base substitution C T intron_variant MELA-AU 6 125312142 125312142 single base substitution T G intron_variant MELA-AU 6 125312323 125312323 single base substitution C T intron_variant MELA-AU 6 125312608 125312608 single base substitution C A intron_variant MELA-AU 6 125312679 125312679 single base substitution C T intron_variant MELA-AU 6 125312728 125312728 single base substitution G A intron_variant MELA-AU 6 125312860 125312860 single base substitution G A intron_variant MELA-AU 6 125313138 125313138 single base substitution G A intron_variant MELA-AU 6 125313356 125313356 single base substitution C T intron_variant MELA-AU 6 125313536 125313536 single base substitution G A intron_variant MELA-AU 6 125313617 125313617 single base substitution C T intron_variant MELA-AU 6 125313733 125313733 single base substitution G A intron_variant MELA-AU 6 125313759 125313759 single base substitution T C intron_variant MELA-AU 6 125313839 125313839 single base substitution C T intron_variant MELA-AU 6 125313893 125313893 single base substitution G A intron_variant MELA-AU 6 125313997 125313997 single base substitution C T intron_variant MELA-AU 6 125314041 125314041 single base substitution G A intron_variant MELA-AU 6 125314083 125314083 single base substitution G A intron_variant MELA-AU 6 125314111 125314111 single base substitution C T intron_variant MELA-AU 6 125314353 125314353 single base substitution C T intron_variant MELA-AU 6 125314368 125314368 single base substitution C T intron_variant MELA-AU 6 125314532 125314532 single base substitution C T intron_variant MELA-AU 6 125314553 125314553 single base substitution C T intron_variant MELA-AU 6 125314585 125314585 single base substitution G A intron_variant MELA-AU 6 125314591 125314591 single base substitution C T intron_variant MELA-AU 6 125314755 125314755 single base substitution C T intron_variant MELA-AU 6 125314972 125314972 single base substitution G A intron_variant MELA-AU 6 125315040 125315040 single base substitution C T intron_variant MELA-AU 6 125315057 125315057 single base substitution A G intron_variant MELA-AU 6 125315367 125315367 single base substitution C T intron_variant MELA-AU 6 125315375 125315375 single base substitution C T intron_variant MELA-AU 6 125315449 125315449 single base substitution C T intron_variant MELA-AU 6 125315486 125315486 single base substitution C T intron_variant MELA-AU 6 125315942 125315942 single base substitution G A intron_variant MELA-AU 6 125317135 125317135 single base substitution C T intron_variant MELA-AU 6 125317784 125317784 single base substitution A G 5_prime_UTR_variant MELA-AU 6 125317784 125317784 single base substitution A G intron_variant MELA-AU 6 125318131 125318131 single base substitution C T intron_variant MELA-AU 6 125318212 125318212 single base substitution C T intron_variant MELA-AU 6 125318220 125318220 single base substitution C T intron_variant MELA-AU 6 125318287 125318287 single base substitution G A intron_variant MELA-AU 6 125318356 125318356 single base substitution G A intron_variant MELA-AU 6 125318357 125318357 single base substitution G A intron_variant MELA-AU 6 125318425 125318425 single base substitution C T intron_variant MELA-AU 6 125318568 125318568 single base substitution G A intron_variant MELA-AU 6 125318650 125318650 single base substitution G A intron_variant MELA-AU 6 125318710 125318710 single base substitution G A intron_variant MELA-AU 6 125318820 125318820 single base substitution T C intron_variant MELA-AU 6 125318898 125318898 single base substitution C T intron_variant MELA-AU 6 125319025 125319025 single base substitution C T intron_variant MELA-AU 6 125319070 125319070 single base substitution C T intron_variant MELA-AU 6 125319080 125319080 single base substitution G A intron_variant MELA-AU 6 125319096 125319096 single base substitution C T intron_variant MELA-AU 6 125319096 125319097 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 125319295 125319295 single base substitution C T intron_variant MELA-AU 6 125319333 125319333 single base substitution C T intron_variant MELA-AU 6 125319362 125319362 single base substitution C T intron_variant MELA-AU 6 125319584 125319584 single base substitution C T intron_variant MELA-AU 6 125319686 125319686 single base substitution C T intron_variant MELA-AU 6 125319735 125319735 single base substitution G A intron_variant MELA-AU 6 125319750 125319750 single base substitution C A intron_variant MELA-AU 6 125319861 125319861 single base substitution C T intron_variant MELA-AU 6 125320076 125320076 single base substitution G A intron_variant MELA-AU 6 125320363 125320363 single base substitution C T intron_variant MELA-AU 6 125320695 125320695 single base substitution G A intron_variant MELA-AU 6 125320890 125320890 single base substitution G A intron_variant MELA-AU 6 125320948 125320948 single base substitution C T intron_variant MELA-AU 6 125321107 125321107 single base substitution G A intron_variant MELA-AU 6 125321617 125321617 single base substitution C T intron_variant MELA-AU 6 125321650 125321650 single base substitution G A intron_variant MELA-AU 6 125321795 125321795 single base substitution G A intron_variant MELA-AU 6 125321823 125321823 single base substitution C T intron_variant MELA-AU 6 125321991 125321991 single base substitution G A intron_variant MELA-AU 6 125322112 125322112 single base substitution C T intron_variant MELA-AU 6 125322169 125322169 single base substitution C T intron_variant MELA-AU 6 125322338 125322338 single base substitution T C intron_variant MELA-AU 6 125322448 125322448 single base substitution C T intron_variant MELA-AU 6 125322500 125322500 single base substitution G A intron_variant MELA-AU 6 125322583 125322583 single base substitution C T intron_variant MELA-AU 6 125322756 125322772 deletion of <=200bp TTGTTAAAATTAGGGAT - intron_variant MELA-AU 6 125322818 125322818 single base substitution C T intron_variant MELA-AU 6 125322849 125322849 single base substitution G A intron_variant MELA-AU 6 125322884 125322884 single base substitution G A intron_variant MELA-AU 6 125322889 125322889 single base substitution C T intron_variant MELA-AU 6 125322986 125322986 single base substitution G A intron_variant MELA-AU 6 125323244 125323244 single base substitution G C intron_variant MELA-AU 6 125323506 125323506 single base substitution T C intron_variant MELA-AU 6 125323670 125323670 single base substitution C T intron_variant MELA-AU 6 125323675 125323675 single base substitution C T intron_variant MELA-AU 6 125323706 125323706 single base substitution G A intron_variant MELA-AU 6 125323745 125323745 single base substitution C T intron_variant MELA-AU 6 125323751 125323751 single base substitution C T intron_variant MELA-AU 6 125323980 125323980 single base substitution G A intron_variant MELA-AU 6 125324132 125324132 single base substitution G A intron_variant MELA-AU 6 125324314 125324314 single base substitution C T intron_variant MELA-AU 6 125324450 125324450 single base substitution G A intron_variant MELA-AU 6 125324826 125324826 single base substitution C T intron_variant MELA-AU 6 125324939 125324939 single base substitution A G intron_variant MELA-AU 6 125324939 125324939 single base substitution A G upstream_gene_variant MELA-AU 6 125325050 125325050 single base substitution G A intron_variant MELA-AU 6 125325050 125325050 single base substitution G A upstream_gene_variant MELA-AU 6 125325342 125325342 single base substitution C T intron_variant MELA-AU 6 125325342 125325342 single base substitution C T upstream_gene_variant MELA-AU 6 125325555 125325555 single base substitution C T intron_variant MELA-AU 6 125325555 125325555 single base substitution C T upstream_gene_variant MELA-AU 6 125325641 125325641 single base substitution G A intron_variant MELA-AU 6 125325641 125325641 single base substitution G A upstream_gene_variant MELA-AU 6 125325687 125325687 single base substitution C T intron_variant MELA-AU 6 125325687 125325687 single base substitution C T upstream_gene_variant MELA-AU 6 125325806 125325806 single base substitution G A intron_variant MELA-AU 6 125325806 125325806 single base substitution G A upstream_gene_variant MELA-AU 6 125325829 125325829 single base substitution G A intron_variant MELA-AU 6 125325829 125325829 single base substitution G A upstream_gene_variant MELA-AU 6 125326063 125326063 single base substitution T A intron_variant MELA-AU 6 125326063 125326063 single base substitution T A upstream_gene_variant MELA-AU 6 125326078 125326078 single base substitution G A intron_variant MELA-AU 6 125326078 125326078 single base substitution G A upstream_gene_variant MELA-AU 6 125326103 125326103 single base substitution G T intron_variant MELA-AU 6 125326103 125326103 single base substitution G T upstream_gene_variant MELA-AU 6 125326272 125326272 single base substitution C T intron_variant MELA-AU 6 125326272 125326272 single base substitution C T upstream_gene_variant MELA-AU 6 125326569 125326569 single base substitution C T intron_variant MELA-AU 6 125326569 125326569 single base substitution C T upstream_gene_variant MELA-AU 6 125326717 125326717 single base substitution G A intron_variant MELA-AU 6 125326717 125326717 single base substitution G A upstream_gene_variant MELA-AU 6 125326853 125326853 single base substitution C T intron_variant MELA-AU 6 125326853 125326853 single base substitution C T upstream_gene_variant MELA-AU 6 125326945 125326945 single base substitution T C intron_variant MELA-AU 6 125326945 125326945 single base substitution T C upstream_gene_variant MELA-AU 6 125326993 125326993 single base substitution G A intron_variant MELA-AU 6 125326993 125326993 single base substitution G A upstream_gene_variant MELA-AU 6 125327147 125327147 single base substitution T G intron_variant MELA-AU 6 125327147 125327147 single base substitution T G upstream_gene_variant MELA-AU 6 125327492 125327492 single base substitution C T intron_variant MELA-AU 6 125327492 125327492 single base substitution C T upstream_gene_variant MELA-AU 6 125327842 125327842 single base substitution C T intron_variant MELA-AU 6 125327842 125327842 single base substitution C T upstream_gene_variant MELA-AU 6 125327892 125327892 single base substitution C T intron_variant MELA-AU 6 125327892 125327892 single base substitution C T upstream_gene_variant MELA-AU 6 125328082 125328082 single base substitution C A intron_variant MELA-AU 6 125328082 125328082 single base substitution C A upstream_gene_variant MELA-AU 6 125328219 125328219 single base substitution T A intron_variant MELA-AU 6 125328219 125328219 single base substitution T A upstream_gene_variant MELA-AU 6 125328282 125328282 single base substitution G A intron_variant MELA-AU 6 125328282 125328282 single base substitution G A upstream_gene_variant MELA-AU 6 125328479 125328479 single base substitution C T intron_variant MELA-AU 6 125328479 125328479 single base substitution C T upstream_gene_variant MELA-AU 6 125328494 125328494 single base substitution C T intron_variant MELA-AU 6 125328494 125328494 single base substitution C T upstream_gene_variant MELA-AU 6 125328741 125328741 single base substitution T A intron_variant MELA-AU 6 125328741 125328741 single base substitution T A upstream_gene_variant MELA-AU 6 125329330 125329330 single base substitution G A intron_variant MELA-AU 6 125329330 125329330 single base substitution G A upstream_gene_variant MELA-AU 6 125329500 125329500 single base substitution C T intron_variant MELA-AU 6 125329500 125329500 single base substitution C T upstream_gene_variant MELA-AU 6 125329529 125329529 single base substitution G A intron_variant MELA-AU 6 125329529 125329529 single base substitution G A upstream_gene_variant MELA-AU 6 125329547 125329547 single base substitution G A intron_variant MELA-AU 6 125329547 125329547 single base substitution G A upstream_gene_variant MELA-AU 6 125329626 125329626 single base substitution G A intron_variant MELA-AU 6 125329626 125329626 single base substitution G A upstream_gene_variant MELA-AU 6 125329670 125329670 single base substitution C T intron_variant MELA-AU 6 125329670 125329670 single base substitution C T upstream_gene_variant MELA-AU 6 125329770 125329770 single base substitution C G intron_variant MELA-AU 6 125329770 125329770 single base substitution C G upstream_gene_variant MELA-AU 6 125329905 125329905 single base substitution C T exon_variant MELA-AU 6 125329905 125329905 single base substitution C T intron_variant MELA-AU 6 125329917 125329917 single base substitution C T exon_variant MELA-AU 6 125329917 125329917 single base substitution C T intron_variant MELA-AU 6 125329990 125329990 single base substitution G A exon_variant MELA-AU 6 125329990 125329990 single base substitution G A intron_variant MELA-AU 6 125330086 125330086 single base substitution C T intron_variant MELA-AU 6 125330109 125330109 single base substitution C T intron_variant MELA-AU 6 125330126 125330126 single base substitution C T intron_variant MELA-AU 6 125330237 125330237 single base substitution C T intron_variant MELA-AU 6 125330271 125330271 single base substitution G A intron_variant MELA-AU 6 125330456 125330456 single base substitution T A downstream_gene_variant MELA-AU 6 125330456 125330456 single base substitution T A exon_variant MELA-AU 6 125330456 125330456 single base substitution T A intron_variant MELA-AU 6 125330487 125330487 single base substitution C T downstream_gene_variant MELA-AU 6 125330487 125330487 single base substitution C T exon_variant MELA-AU 6 125330487 125330487 single base substitution C T intron_variant MELA-AU 6 125330554 125330554 single base substitution C T downstream_gene_variant MELA-AU 6 125330554 125330554 single base substitution C T exon_variant MELA-AU 6 125330554 125330554 single base substitution C T intron_variant MELA-AU 6 125330749 125330749 single base substitution C T downstream_gene_variant MELA-AU 6 125330749 125330749 single base substitution C T intron_variant MELA-AU 6 125330925 125330925 single base substitution G A downstream_gene_variant MELA-AU 6 125330925 125330925 single base substitution G A intron_variant MELA-AU 6 125331095 125331095 single base substitution C T downstream_gene_variant MELA-AU 6 125331095 125331095 single base substitution C T intron_variant MELA-AU 6 125331316 125331316 single base substitution C T downstream_gene_variant MELA-AU 6 125331316 125331316 single base substitution C T intron_variant MELA-AU 6 125331338 125331338 single base substitution G A downstream_gene_variant MELA-AU 6 125331338 125331338 single base substitution G A intron_variant MELA-AU 6 125331443 125331443 single base substitution T A downstream_gene_variant MELA-AU 6 125331443 125331443 single base substitution T A intron_variant MELA-AU 6 125331603 125331603 single base substitution C T downstream_gene_variant MELA-AU 6 125331603 125331603 single base substitution C T intron_variant MELA-AU 6 125331642 125331642 single base substitution G A downstream_gene_variant MELA-AU 6 125331642 125331642 single base substitution G A intron_variant MELA-AU 6 125331767 125331767 single base substitution C T downstream_gene_variant MELA-AU 6 125331767 125331767 single base substitution C T intron_variant MELA-AU 6 125332124 125332124 single base substitution A G downstream_gene_variant MELA-AU 6 125332124 125332124 single base substitution A G intron_variant MELA-AU 6 125332355 125332355 insertion of <=200bp - GACAGTA downstream_gene_variant MELA-AU 6 125332355 125332355 insertion of <=200bp - GACAGTA intron_variant MELA-AU 6 125332419 125332419 single base substitution G A downstream_gene_variant MELA-AU 6 125332419 125332419 single base substitution G A intron_variant MELA-AU 6 125332729 125332729 single base substitution G A downstream_gene_variant MELA-AU 6 125332729 125332729 single base substitution G A intron_variant MELA-AU 6 125332937 125332937 single base substitution C T downstream_gene_variant MELA-AU 6 125332937 125332937 single base substitution C T intron_variant MELA-AU 6 125332955 125332955 single base substitution C T downstream_gene_variant MELA-AU 6 125332955 125332955 single base substitution C T intron_variant MELA-AU 6 125333006 125333006 single base substitution G A downstream_gene_variant MELA-AU 6 125333006 125333006 single base substitution G A intron_variant MELA-AU 6 125333008 125333008 single base substitution G T downstream_gene_variant MELA-AU 6 125333008 125333008 single base substitution G T intron_variant MELA-AU 6 125333531 125333531 single base substitution C A downstream_gene_variant MELA-AU 6 125333531 125333531 single base substitution C A intron_variant MELA-AU 6 125334002 125334002 single base substitution C T downstream_gene_variant MELA-AU 6 125334002 125334002 single base substitution C T intron_variant MELA-AU 6 125334399 125334399 single base substitution G A downstream_gene_variant MELA-AU 6 125334399 125334399 single base substitution G A intron_variant MELA-AU 6 125334426 125334426 single base substitution A G downstream_gene_variant MELA-AU 6 125334426 125334426 single base substitution A G intron_variant MELA-AU 6 125334872 125334872 single base substitution C T downstream_gene_variant MELA-AU 6 125334872 125334872 single base substitution C T intron_variant MELA-AU 6 125335051 125335051 single base substitution G A downstream_gene_variant MELA-AU 6 125335051 125335051 single base substitution G A intron_variant MELA-AU 6 125335070 125335070 single base substitution C T downstream_gene_variant MELA-AU 6 125335070 125335070 single base substitution C T intron_variant MELA-AU 6 125335138 125335138 single base substitution G A downstream_gene_variant MELA-AU 6 125335138 125335138 single base substitution G A intron_variant MELA-AU 6 125335369 125335369 single base substitution C T downstream_gene_variant MELA-AU 6 125335369 125335369 single base substitution C T intron_variant MELA-AU 6 125335406 125335406 single base substitution G A downstream_gene_variant MELA-AU 6 125335406 125335406 single base substitution G A intron_variant MELA-AU 6 125335593 125335593 single base substitution C T downstream_gene_variant MELA-AU 6 125335593 125335593 single base substitution C T intron_variant MELA-AU 6 125335892 125335892 single base substitution C T intron_variant MELA-AU 6 125335919 125335919 single base substitution G A intron_variant MELA-AU 6 125335993 125335993 single base substitution T C intron_variant MELA-AU 6 125336160 125336160 single base substitution C T intron_variant MELA-AU 6 125336248 125336248 single base substitution G A intron_variant MELA-AU 6 125336484 125336484 single base substitution C T intron_variant MELA-AU 6 125336695 125336695 single base substitution G A intron_variant MELA-AU 6 125336727 125336727 single base substitution G A intron_variant MELA-AU 6 125336837 125336837 single base substitution C T intron_variant MELA-AU 6 125336975 125336975 single base substitution G A intron_variant MELA-AU 6 125337003 125337003 single base substitution G A intron_variant MELA-AU 6 125337085 125337085 single base substitution C T intron_variant MELA-AU 6 125337473 125337473 single base substitution C T intron_variant MELA-AU 6 125337547 125337547 single base substitution G A intron_variant MELA-AU 6 125337651 125337651 single base substitution G A intron_variant MELA-AU 6 125337905 125337905 single base substitution G A intron_variant MELA-AU 6 125338107 125338107 single base substitution G A intron_variant MELA-AU 6 125338164 125338164 single base substitution G A intron_variant MELA-AU 6 125338173 125338173 single base substitution C T intron_variant MELA-AU 6 125338380 125338380 single base substitution C T intron_variant MELA-AU 6 125338717 125338717 single base substitution C T intron_variant MELA-AU 6 125338938 125338938 single base substitution A G intron_variant MELA-AU 6 125339043 125339043 single base substitution G A intron_variant MELA-AU 6 125339082 125339082 single base substitution C T intron_variant MELA-AU 6 125339458 125339458 single base substitution C T intron_variant MELA-AU 6 125339459 125339459 single base substitution C T intron_variant MELA-AU 6 125339689 125339689 single base substitution G A intron_variant MELA-AU 6 125339714 125339714 single base substitution C T intron_variant MELA-AU 6 125339716 125339716 single base substitution G A intron_variant MELA-AU 6 125339838 125339838 single base substitution C T intron_variant MELA-AU 6 125340174 125340174 single base substitution C T intron_variant MELA-AU 6 125340345 125340345 single base substitution C T intron_variant MELA-AU 6 125340449 125340449 single base substitution C T intron_variant MELA-AU 6 125340532 125340532 single base substitution C T intron_variant MELA-AU 6 125341194 125341194 single base substitution C T intron_variant MELA-AU 6 125341428 125341429 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 125341521 125341521 single base substitution A G intron_variant MELA-AU 6 125341555 125341555 single base substitution A T intron_variant MELA-AU 6 125341656 125341656 single base substitution G A intron_variant MELA-AU 6 125341674 125341674 single base substitution C T intron_variant MELA-AU 6 125341725 125341725 single base substitution T G intron_variant MELA-AU 6 125341836 125341836 single base substitution T A intron_variant MELA-AU 6 125341852 125341852 single base substitution A C intron_variant MELA-AU 6 125342009 125342009 single base substitution A T intron_variant MELA-AU 6 125342026 125342026 single base substitution C T intron_variant MELA-AU 6 125342057 125342057 single base substitution G A intron_variant MELA-AU 6 125342345 125342345 single base substitution C T intron_variant MELA-AU 6 125342437 125342437 single base substitution G A intron_variant MELA-AU 6 125342546 125342546 single base substitution G A intron_variant MELA-AU 6 125342712 125342712 single base substitution G A intron_variant MELA-AU 6 125342734 125342734 single base substitution A G intron_variant MELA-AU 6 125342848 125342848 single base substitution G A intron_variant MELA-AU 6 125342881 125342881 single base substitution C T intron_variant MELA-AU 6 125342923 125342924 multiple base substitution (>=2bp and <=200bp) TT CC intron_variant MELA-AU 6 125342962 125342962 single base substitution C T intron_variant MELA-AU 6 125343104 125343104 single base substitution T G intron_variant MELA-AU 6 125343151 125343151 single base substitution C T intron_variant MELA-AU 6 125343472 125343472 single base substitution G A intron_variant MELA-AU 6 125343481 125343481 single base substitution G A intron_variant MELA-AU 6 125343538 125343538 single base substitution T A intron_variant MELA-AU 6 125343683 125343683 single base substitution A G intron_variant MELA-AU 6 125343855 125343855 single base substitution C T intron_variant MELA-AU 6 125343931 125343931 single base substitution C T intron_variant MELA-AU 6 125344089 125344089 single base substitution C T intron_variant MELA-AU 6 125344181 125344181 single base substitution G A intron_variant MELA-AU 6 125344312 125344312 single base substitution C T intron_variant MELA-AU 6 125344401 125344401 single base substitution G A intron_variant MELA-AU 6 125344848 125344848 single base substitution G A intron_variant MELA-AU 6 125344894 125344895 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 6 125344955 125344955 single base substitution G A intron_variant MELA-AU 6 125345052 125345052 single base substitution T G intron_variant MELA-AU 6 125345262 125345262 single base substitution G A intron_variant MELA-AU 6 125345373 125345373 single base substitution G A intron_variant MELA-AU 6 125345398 125345398 single base substitution G A intron_variant MELA-AU 6 125345478 125345478 single base substitution C T intron_variant MELA-AU 6 125345510 125345510 single base substitution C T intron_variant MELA-AU 6 125345780 125345780 single base substitution C T intron_variant MELA-AU 6 125345789 125345790 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 125345793 125345793 single base substitution G A intron_variant MELA-AU 6 125346178 125346178 single base substitution G A intron_variant MELA-AU 6 125346486 125346486 single base substitution G A intron_variant MELA-AU 6 125346563 125346563 single base substitution C T intron_variant MELA-AU 6 125346596 125346596 single base substitution G A intron_variant MELA-AU 6 125346624 125346624 single base substitution A T intron_variant MELA-AU 6 125346629 125346629 single base substitution C T intron_variant MELA-AU 6 125346829 125346829 single base substitution G A intron_variant MELA-AU 6 125346911 125346911 single base substitution G A intron_variant MELA-AU 6 125347077 125347077 single base substitution G A intron_variant MELA-AU 6 125347262 125347262 single base substitution C T intron_variant MELA-AU 6 125347630 125347630 single base substitution G A intron_variant MELA-AU 6 125347787 125347787 single base substitution C T intron_variant MELA-AU 6 125347789 125347789 single base substitution C T intron_variant MELA-AU 6 125347970 125347970 single base substitution G A intron_variant MELA-AU 6 125348042 125348042 single base substitution G A intron_variant MELA-AU 6 125348376 125348376 single base substitution C T intron_variant MELA-AU 6 125348394 125348394 single base substitution C T intron_variant MELA-AU 6 125348429 125348429 single base substitution C T intron_variant MELA-AU 6 125348437 125348437 single base substitution C T intron_variant MELA-AU 6 125348497 125348497 single base substitution C T intron_variant MELA-AU 6 125348529 125348529 single base substitution C T intron_variant MELA-AU 6 125348531 125348531 single base substitution G A intron_variant MELA-AU 6 125348580 125348580 single base substitution C T intron_variant MELA-AU 6 125348589 125348589 single base substitution G A intron_variant MELA-AU 6 125348605 125348605 single base substitution C T intron_variant MELA-AU 6 125348718 125348718 single base substitution T C intron_variant MELA-AU 6 125348979 125348979 single base substitution G A intron_variant MELA-AU 6 125349132 125349132 single base substitution C T intron_variant MELA-AU 6 125349283 125349283 single base substitution C T intron_variant MELA-AU 6 125349363 125349363 single base substitution C T intron_variant MELA-AU 6 125349789 125349789 single base substitution G A intron_variant MELA-AU 6 125349873 125349873 single base substitution C T intron_variant MELA-AU 6 125349884 125349884 single base substitution G A intron_variant MELA-AU 6 125350347 125350347 single base substitution C T intron_variant MELA-AU 6 125350465 125350465 single base substitution T C intron_variant MELA-AU 6 125350575 125350575 single base substitution G A intron_variant MELA-AU 6 125350581 125350581 single base substitution G A intron_variant MELA-AU 6 125351078 125351078 single base substitution C T intron_variant MELA-AU 6 125351204 125351204 single base substitution G A intron_variant MELA-AU 6 125351246 125351246 single base substitution G A intron_variant MELA-AU 6 125351277 125351277 single base substitution C T intron_variant MELA-AU 6 125351339 125351339 single base substitution C T intron_variant MELA-AU 6 125351514 125351514 single base substitution A C intron_variant MELA-AU 6 125351572 125351572 single base substitution G A intron_variant MELA-AU 6 125351605 125351605 single base substitution C T intron_variant MELA-AU 6 125351618 125351619 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 125351759 125351759 single base substitution G A intron_variant MELA-AU 6 125351805 125351805 single base substitution C T intron_variant MELA-AU 6 125351843 125351843 deletion of <=200bp G - intron_variant MELA-AU 6 125351964 125351964 single base substitution C T intron_variant MELA-AU 6 125352031 125352031 single base substitution C T intron_variant MELA-AU 6 125352034 125352034 single base substitution C T intron_variant MELA-AU 6 125352112 125352112 single base substitution C T intron_variant MELA-AU 6 125352192 125352192 single base substitution G A intron_variant MELA-AU 6 125352299 125352299 single base substitution C T intron_variant MELA-AU 6 125352315 125352315 single base substitution C T intron_variant MELA-AU 6 125352353 125352353 single base substitution C T intron_variant MELA-AU 6 125352413 125352413 single base substitution G A intron_variant MELA-AU 6 125352414 125352414 single base substitution G A intron_variant MELA-AU 6 125352507 125352507 single base substitution G A intron_variant MELA-AU 6 125352547 125352547 single base substitution C T intron_variant MELA-AU 6 125352566 125352566 single base substitution C T intron_variant MELA-AU 6 125352596 125352596 single base substitution C T intron_variant MELA-AU 6 125352642 125352642 single base substitution C T intron_variant MELA-AU 6 125352679 125352679 single base substitution C T intron_variant MELA-AU 6 125352698 125352698 single base substitution G A intron_variant MELA-AU 6 125352726 125352726 single base substitution C T intron_variant MELA-AU 6 125352776 125352776 single base substitution C T intron_variant MELA-AU 6 125352816 125352816 single base substitution C T intron_variant MELA-AU 6 125352863 125352863 single base substitution G A intron_variant MELA-AU 6 125353231 125353231 single base substitution G A intron_variant MELA-AU 6 125353288 125353288 single base substitution G A intron_variant MELA-AU 6 125353323 125353323 single base substitution G A intron_variant MELA-AU 6 125353432 125353432 single base substitution C T intron_variant MELA-AU 6 125353507 125353507 single base substitution T C intron_variant MELA-AU 6 125353816 125353816 single base substitution A T intron_variant MELA-AU 6 125353934 125353934 single base substitution G A intron_variant MELA-AU 6 125354083 125354083 single base substitution G A intron_variant MELA-AU 6 125354514 125354514 single base substitution C T intron_variant MELA-AU 6 125354564 125354564 single base substitution C T intron_variant MELA-AU 6 125355299 125355299 single base substitution C T intron_variant MELA-AU 6 125355336 125355336 single base substitution T G intron_variant MELA-AU 6 125355387 125355387 single base substitution T A intron_variant MELA-AU 6 125355498 125355498 single base substitution C T intron_variant MELA-AU 6 125355845 125355845 single base substitution G A intron_variant MELA-AU 6 125355908 125355908 single base substitution A C intron_variant MELA-AU 6 125355916 125355916 single base substitution C T intron_variant MELA-AU 6 125356232 125356233 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 125356233 125356233 single base substitution G A intron_variant MELA-AU 6 125356337 125356337 single base substitution C T intron_variant MELA-AU 6 125356525 125356525 single base substitution G A intron_variant MELA-AU 6 125356814 125356814 single base substitution C T intron_variant MELA-AU 6 125356892 125356892 single base substitution T G intron_variant MELA-AU 6 125357020 125357020 single base substitution C T intron_variant MELA-AU 6 125357218 125357219 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 125357237 125357237 single base substitution G A intron_variant MELA-AU 6 125357287 125357287 single base substitution C T intron_variant MELA-AU 6 125357372 125357372 single base substitution T C intron_variant MELA-AU 6 125357374 125357374 single base substitution C T intron_variant MELA-AU 6 125357571 125357571 single base substitution C T intron_variant MELA-AU 6 125357619 125357619 single base substitution C T intron_variant MELA-AU 6 125357850 125357850 single base substitution G A intron_variant MELA-AU 6 125357860 125357860 single base substitution G A intron_variant MELA-AU 6 125357948 125357948 single base substitution C T intron_variant MELA-AU 6 125357994 125357994 single base substitution G A intron_variant MELA-AU 6 125358025 125358025 single base substitution T A intron_variant MELA-AU 6 125358048 125358048 single base substitution T A intron_variant MELA-AU 6 125358169 125358169 single base substitution G A intron_variant MELA-AU 6 125358663 125358663 single base substitution A G intron_variant MELA-AU 6 125358991 125358991 single base substitution C T intron_variant MELA-AU 6 125359120 125359120 single base substitution C T intron_variant MELA-AU 6 125359308 125359308 single base substitution C T intron_variant MELA-AU 6 125359460 125359460 single base substitution A C intron_variant MELA-AU 6 125359966 125359966 single base substitution G A intron_variant MELA-AU 6 125360135 125360135 single base substitution C T intron_variant MELA-AU 6 125360172 125360172 single base substitution C T intron_variant MELA-AU 6 125360279 125360279 single base substitution G A intron_variant MELA-AU 6 125360301 125360301 single base substitution C T intron_variant MELA-AU 6 125360428 125360428 single base substitution G A intron_variant MELA-AU 6 125360820 125360820 single base substitution C T intron_variant MELA-AU 6 125360879 125360879 single base substitution A T intron_variant MELA-AU 6 125360929 125360929 single base substitution G A intron_variant MELA-AU 6 125360994 125360995 multiple base substitution (>=2bp and <=200bp) CC GA intron_variant MELA-AU 6 125361106 125361106 single base substitution G A intron_variant MELA-AU 6 125361152 125361152 single base substitution G A intron_variant MELA-AU 6 125361415 125361415 single base substitution G A intron_variant MELA-AU 6 125361483 125361483 single base substitution C T intron_variant MELA-AU 6 125361483 125361483 single base substitution C T upstream_gene_variant MELA-AU 6 125361536 125361537 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 125361536 125361537 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 125361550 125361550 single base substitution C T intron_variant MELA-AU 6 125361550 125361550 single base substitution C T upstream_gene_variant MELA-AU 6 125361661 125361661 single base substitution G A intron_variant MELA-AU 6 125361661 125361661 single base substitution G A upstream_gene_variant MELA-AU 6 125361757 125361757 single base substitution C T intron_variant MELA-AU 6 125361757 125361757 single base substitution C T upstream_gene_variant MELA-AU 6 125361795 125361795 single base substitution C T intron_variant MELA-AU 6 125361795 125361795 single base substitution C T upstream_gene_variant MELA-AU 6 125362327 125362327 single base substitution C T intron_variant MELA-AU 6 125362327 125362327 single base substitution C T upstream_gene_variant MELA-AU 6 125362362 125362362 single base substitution A C intron_variant MELA-AU 6 125362362 125362362 single base substitution A C upstream_gene_variant MELA-AU 6 125362375 125362375 single base substitution C T intron_variant MELA-AU 6 125362375 125362375 single base substitution C T upstream_gene_variant MELA-AU 6 125362529 125362529 single base substitution A T intron_variant MELA-AU 6 125362529 125362529 single base substitution A T upstream_gene_variant MELA-AU 6 125362548 125362548 single base substitution C T intron_variant MELA-AU 6 125362548 125362548 single base substitution C T upstream_gene_variant MELA-AU 6 125362667 125362667 single base substitution C T intron_variant MELA-AU 6 125362667 125362667 single base substitution C T upstream_gene_variant MELA-AU 6 125362723 125362723 single base substitution C T intron_variant MELA-AU 6 125362723 125362723 single base substitution C T upstream_gene_variant MELA-AU 6 125362801 125362801 single base substitution C T intron_variant MELA-AU 6 125362801 125362801 single base substitution C T upstream_gene_variant MELA-AU 6 125362864 125362864 single base substitution C T intron_variant MELA-AU 6 125362864 125362864 single base substitution C T upstream_gene_variant MELA-AU 6 125362916 125362916 single base substitution C T intron_variant MELA-AU 6 125362916 125362916 single base substitution C T upstream_gene_variant MELA-AU 6 125362939 125362939 single base substitution C T intron_variant MELA-AU 6 125362939 125362939 single base substitution C T upstream_gene_variant MELA-AU 6 125363017 125363017 single base substitution G A intron_variant MELA-AU 6 125363017 125363017 single base substitution G A upstream_gene_variant MELA-AU 6 125363338 125363338 single base substitution T C intron_variant MELA-AU 6 125363338 125363338 single base substitution T C upstream_gene_variant MELA-AU 6 125363524 125363524 single base substitution G A intron_variant MELA-AU 6 125363524 125363524 single base substitution G A upstream_gene_variant MELA-AU 6 125363532 125363532 single base substitution G A intron_variant MELA-AU 6 125363532 125363532 single base substitution G A upstream_gene_variant MELA-AU 6 125363618 125363618 single base substitution G A intron_variant MELA-AU 6 125363618 125363618 single base substitution G A upstream_gene_variant MELA-AU 6 125363803 125363803 single base substitution G A intron_variant MELA-AU 6 125363803 125363803 single base substitution G A upstream_gene_variant MELA-AU 6 125363881 125363881 single base substitution G A intron_variant MELA-AU 6 125363881 125363881 single base substitution G A upstream_gene_variant MELA-AU 6 125363944 125363944 single base substitution G A intron_variant MELA-AU 6 125363944 125363944 single base substitution G A upstream_gene_variant MELA-AU 6 125364013 125364013 single base substitution G A intron_variant MELA-AU 6 125364013 125364013 single base substitution G A upstream_gene_variant MELA-AU 6 125364056 125364056 single base substitution C T intron_variant MELA-AU 6 125364056 125364056 single base substitution C T upstream_gene_variant MELA-AU 6 125364264 125364264 single base substitution C T intron_variant MELA-AU 6 125364264 125364264 single base substitution C T upstream_gene_variant MELA-AU 6 125364442 125364442 single base substitution C T intron_variant MELA-AU 6 125364442 125364442 single base substitution C T upstream_gene_variant MELA-AU 6 125364567 125364567 single base substitution C T intron_variant MELA-AU 6 125364567 125364567 single base substitution C T upstream_gene_variant MELA-AU 6 125364575 125364575 single base substitution C T intron_variant MELA-AU 6 125364575 125364575 single base substitution C T upstream_gene_variant MELA-AU 6 125365016 125365016 single base substitution T C intron_variant MELA-AU 6 125365016 125365016 single base substitution T C upstream_gene_variant MELA-AU 6 125365266 125365266 single base substitution C T intron_variant MELA-AU 6 125365266 125365266 single base substitution C T upstream_gene_variant MELA-AU 6 125365272 125365272 single base substitution C T intron_variant MELA-AU 6 125365272 125365272 single base substitution C T upstream_gene_variant MELA-AU 6 125365273 125365273 single base substitution C T intron_variant MELA-AU 6 125365273 125365273 single base substitution C T upstream_gene_variant MELA-AU 6 125365286 125365286 single base substitution C T intron_variant MELA-AU 6 125365286 125365286 single base substitution C T upstream_gene_variant MELA-AU 6 125365712 125365712 single base substitution C T intron_variant MELA-AU 6 125365712 125365712 single base substitution C T upstream_gene_variant MELA-AU 6 125365751 125365751 single base substitution C T intron_variant MELA-AU 6 125365751 125365751 single base substitution C T upstream_gene_variant MELA-AU 6 125365819 125365819 single base substitution G A intron_variant MELA-AU 6 125365819 125365819 single base substitution G A upstream_gene_variant MELA-AU 6 125366253 125366253 single base substitution C T intron_variant MELA-AU 6 125366253 125366253 single base substitution C T upstream_gene_variant MELA-AU 6 125366330 125366330 single base substitution C T intron_variant MELA-AU 6 125366330 125366330 single base substitution C T upstream_gene_variant MELA-AU 6 125366417 125366417 single base substitution G A 3_prime_UTR_variant MELA-AU 6 125366417 125366417 single base substitution G A 5_prime_UTR_variant MELA-AU 6 125366417 125366417 single base substitution G A exon_variant MELA-AU 6 125366417 125366417 single base substitution G A missense_variant E23K 67G>A MELA-AU 6 125366417 125366417 single base substitution G A missense_variant E315K 943G>A MELA-AU 6 125366417 125366417 single base substitution G A missense_variant E80K 238G>A MELA-AU 6 125366417 125366417 single base substitution G A upstream_gene_variant MELA-AU 6 125366549 125366549 single base substitution G A 3_prime_UTR_variant MELA-AU 6 125366549 125366549 single base substitution G A 5_prime_UTR_variant MELA-AU 6 125366549 125366549 single base substitution G A exon_variant MELA-AU 6 125366549 125366549 single base substitution G A missense_variant G124R 370G>A MELA-AU 6 125366549 125366549 single base substitution G A missense_variant G359R 1075G>A MELA-AU 6 125366549 125366549 single base substitution G A missense_variant G67R 199G>A MELA-AU 6 125366549 125366549 single base substitution G A upstream_gene_variant MELA-AU 6 125366772 125366772 single base substitution G A downstream_gene_variant MELA-AU 6 125366772 125366772 single base substitution G A intron_variant MELA-AU 6 125366772 125366772 single base substitution G A upstream_gene_variant MELA-AU 6 125366853 125366853 single base substitution G A downstream_gene_variant MELA-AU 6 125366853 125366853 single base substitution G A intron_variant MELA-AU 6 125366853 125366853 single base substitution G A upstream_gene_variant MELA-AU 6 125366925 125366925 single base substitution T A downstream_gene_variant MELA-AU 6 125366925 125366925 single base substitution T A intron_variant MELA-AU 6 125366925 125366925 single base substitution T A upstream_gene_variant MELA-AU 6 125367026 125367026 single base substitution T G downstream_gene_variant MELA-AU 6 125367026 125367026 single base substitution T G intron_variant MELA-AU 6 125367026 125367026 single base substitution T G upstream_gene_variant MELA-AU 6 125367135 125367135 single base substitution G A downstream_gene_variant MELA-AU 6 125367135 125367135 single base substitution G A intron_variant MELA-AU 6 125367135 125367135 single base substitution G A upstream_gene_variant MELA-AU 6 125367388 125367388 single base substitution G A downstream_gene_variant MELA-AU 6 125367388 125367388 single base substitution G A intron_variant MELA-AU 6 125367388 125367388 single base substitution G A upstream_gene_variant MELA-AU 6 125367597 125367597 single base substitution C T downstream_gene_variant MELA-AU 6 125367597 125367597 single base substitution C T intron_variant MELA-AU 6 125367597 125367597 single base substitution C T upstream_gene_variant MELA-AU 6 125367654 125367654 single base substitution G A downstream_gene_variant MELA-AU 6 125367654 125367654 single base substitution G A intron_variant MELA-AU 6 125367654 125367654 single base substitution G A upstream_gene_variant MELA-AU 6 125367674 125367674 single base substitution C T downstream_gene_variant MELA-AU 6 125367674 125367674 single base substitution C T intron_variant MELA-AU 6 125367674 125367674 single base substitution C T upstream_gene_variant MELA-AU 6 125367882 125367882 single base substitution G A downstream_gene_variant MELA-AU 6 125367882 125367882 single base substitution G A intron_variant MELA-AU 6 125367882 125367882 single base substitution G A upstream_gene_variant MELA-AU 6 125368123 125368123 single base substitution A T downstream_gene_variant MELA-AU 6 125368123 125368123 single base substitution A T intron_variant MELA-AU 6 125368123 125368123 single base substitution A T upstream_gene_variant MELA-AU 6 125368138 125368138 single base substitution G A downstream_gene_variant MELA-AU 6 125368138 125368138 single base substitution G A intron_variant MELA-AU 6 125368138 125368138 single base substitution G A upstream_gene_variant MELA-AU 6 125368239 125368239 single base substitution G A downstream_gene_variant MELA-AU 6 125368239 125368239 single base substitution G A intron_variant MELA-AU 6 125368239 125368239 single base substitution G A upstream_gene_variant MELA-AU 6 125368492 125368492 single base substitution C T downstream_gene_variant MELA-AU 6 125368492 125368492 single base substitution C T intron_variant MELA-AU 6 125368492 125368492 single base substitution C T upstream_gene_variant MELA-AU 6 125368497 125368497 single base substitution C T downstream_gene_variant MELA-AU 6 125368497 125368497 single base substitution C T intron_variant MELA-AU 6 125368497 125368497 single base substitution C T upstream_gene_variant MELA-AU 6 125368761 125368761 single base substitution G A downstream_gene_variant MELA-AU 6 125368761 125368761 single base substitution G A intron_variant MELA-AU 6 125368761 125368761 single base substitution G A upstream_gene_variant MELA-AU 6 125368820 125368820 single base substitution G A downstream_gene_variant MELA-AU 6 125368820 125368820 single base substitution G A intron_variant MELA-AU 6 125368820 125368820 single base substitution G A upstream_gene_variant MELA-AU 6 125368874 125368874 single base substitution C T downstream_gene_variant MELA-AU 6 125368874 125368874 single base substitution C T intron_variant MELA-AU 6 125368874 125368874 single base substitution C T upstream_gene_variant MELA-AU 6 125368874 125368875 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 6 125368874 125368875 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 125368874 125368875 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 6 125369022 125369022 single base substitution A T downstream_gene_variant MELA-AU 6 125369022 125369022 single base substitution A T intron_variant MELA-AU 6 125369022 125369022 single base substitution A T upstream_gene_variant MELA-AU 6 125369023 125369023 single base substitution T C downstream_gene_variant MELA-AU 6 125369023 125369023 single base substitution T C intron_variant MELA-AU 6 125369023 125369023 single base substitution T C upstream_gene_variant MELA-AU 6 125369103 125369103 single base substitution G A downstream_gene_variant MELA-AU 6 125369103 125369103 single base substitution G A intron_variant MELA-AU 6 125369103 125369103 single base substitution G A upstream_gene_variant MELA-AU 6 125369448 125369448 single base substitution C T downstream_gene_variant MELA-AU 6 125369448 125369448 single base substitution C T intron_variant MELA-AU 6 125369506 125369506 single base substitution G A downstream_gene_variant MELA-AU 6 125369506 125369506 single base substitution G A intron_variant MELA-AU 6 125369952 125369952 single base substitution C T downstream_gene_variant MELA-AU 6 125369952 125369952 single base substitution C T intron_variant MELA-AU 6 125370144 125370144 single base substitution A T downstream_gene_variant MELA-AU 6 125370144 125370144 single base substitution A T intron_variant MELA-AU 6 125370389 125370390 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 6 125370389 125370390 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 125370437 125370437 single base substitution G A downstream_gene_variant MELA-AU 6 125370437 125370437 single base substitution G A intron_variant MELA-AU 6 125370487 125370487 single base substitution T A downstream_gene_variant MELA-AU 6 125370487 125370487 single base substitution T A intron_variant MELA-AU 6 125370658 125370658 single base substitution C T downstream_gene_variant MELA-AU 6 125370658 125370658 single base substitution C T intron_variant MELA-AU 6 125370736 125370736 single base substitution G A downstream_gene_variant MELA-AU 6 125370736 125370736 single base substitution G A intron_variant MELA-AU 6 125370796 125370796 single base substitution A T downstream_gene_variant MELA-AU 6 125370796 125370796 single base substitution A T intron_variant MELA-AU 6 125370972 125370972 single base substitution G A downstream_gene_variant MELA-AU 6 125370972 125370972 single base substitution G A intron_variant MELA-AU 6 125370995 125370995 single base substitution G A downstream_gene_variant MELA-AU 6 125370995 125370995 single base substitution G A intron_variant MELA-AU 6 125371137 125371137 single base substitution G A downstream_gene_variant MELA-AU 6 125371137 125371137 single base substitution G A intron_variant MELA-AU 6 125371169 125371169 single base substitution G A downstream_gene_variant MELA-AU 6 125371169 125371169 single base substitution G A intron_variant MELA-AU 6 125371307 125371307 single base substitution C T downstream_gene_variant MELA-AU 6 125371307 125371307 single base substitution C T intron_variant MELA-AU 6 125371342 125371342 single base substitution C T downstream_gene_variant MELA-AU 6 125371342 125371342 single base substitution C T intron_variant MELA-AU 6 125371466 125371466 single base substitution C T downstream_gene_variant MELA-AU 6 125371466 125371466 single base substitution C T intron_variant MELA-AU 6 125371644 125371644 single base substitution T A intron_variant MELA-AU 6 125371732 125371732 single base substitution G A intron_variant MELA-AU 6 125371863 125371863 single base substitution C T intron_variant MELA-AU 6 125372123 125372123 single base substitution G A intron_variant MELA-AU 6 125372274 125372274 single base substitution C A intron_variant MELA-AU 6 125372416 125372416 single base substitution C T intron_variant MELA-AU 6 125372523 125372523 single base substitution C A intron_variant MELA-AU 6 125372551 125372551 single base substitution G A intron_variant MELA-AU 6 125372670 125372670 single base substitution G A intron_variant MELA-AU 6 125372770 125372770 single base substitution A C intron_variant MELA-AU 6 125372781 125372781 single base substitution G A intron_variant MELA-AU 6 125372862 125372862 single base substitution C T intron_variant MELA-AU 6 125372989 125372989 single base substitution C T intron_variant MELA-AU 6 125373155 125373155 single base substitution C T intron_variant MELA-AU 6 125373185 125373185 single base substitution G A intron_variant MELA-AU 6 125373231 125373231 single base substitution C T intron_variant MELA-AU 6 125373273 125373273 single base substitution G C intron_variant MELA-AU 6 125373542 125373542 single base substitution C T intron_variant MELA-AU 6 125373635 125373635 single base substitution G A intron_variant MELA-AU 6 125373660 125373660 single base substitution C T intron_variant MELA-AU 6 125373676 125373676 single base substitution C T intron_variant MELA-AU 6 125373790 125373790 single base substitution T C intron_variant MELA-AU 6 125373908 125373908 single base substitution C T intron_variant MELA-AU 6 125373985 125373985 single base substitution G A intron_variant MELA-AU 6 125374169 125374170 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 125374170 125374170 single base substitution C T intron_variant MELA-AU 6 125374226 125374226 single base substitution T C intron_variant MELA-AU 6 125374379 125374379 single base substitution T C intron_variant MELA-AU 6 125374492 125374492 single base substitution C T intron_variant MELA-AU 6 125374548 125374548 single base substitution A G intron_variant MELA-AU 6 125374673 125374673 single base substitution G A intron_variant MELA-AU 6 125374852 125374852 single base substitution C T intron_variant MELA-AU 6 125374908 125374908 single base substitution C T intron_variant MELA-AU 6 125375098 125375098 single base substitution G A intron_variant MELA-AU 6 125375099 125375099 single base substitution A G intron_variant MELA-AU 6 125375246 125375246 single base substitution C T intron_variant MELA-AU 6 125375448 125375448 single base substitution G A intron_variant MELA-AU 6 125375479 125375479 single base substitution G A intron_variant MELA-AU 6 125375675 125375675 single base substitution C T intron_variant MELA-AU 6 125375832 125375832 single base substitution C T intron_variant MELA-AU 6 125375956 125375956 single base substitution G A intron_variant MELA-AU 6 125375976 125375976 single base substitution C T intron_variant MELA-AU 6 125375999 125375999 single base substitution G A intron_variant MELA-AU 6 125376050 125376050 single base substitution G A intron_variant MELA-AU 6 125376083 125376083 single base substitution G A intron_variant MELA-AU 6 125376562 125376562 single base substitution C T intron_variant MELA-AU 6 125376602 125376602 single base substitution C T intron_variant MELA-AU 6 125376908 125376908 single base substitution C T intron_variant MELA-AU 6 125376935 125376935 single base substitution G A intron_variant MELA-AU 6 125376985 125376985 single base substitution G A intron_variant MELA-AU 6 125377134 125377134 single base substitution C T intron_variant MELA-AU 6 125377523 125377523 single base substitution C T intron_variant MELA-AU 6 125377795 125377795 single base substitution G A intron_variant MELA-AU 6 125377982 125377982 single base substitution G C intron_variant MELA-AU 6 125378413 125378413 single base substitution C T intron_variant MELA-AU 6 125378508 125378508 single base substitution C T intron_variant MELA-AU 6 125378728 125378728 single base substitution C T intron_variant MELA-AU 6 125378833 125378833 single base substitution T G intron_variant MELA-AU 6 125378902 125378902 single base substitution C T intron_variant MELA-AU 6 125378974 125378974 single base substitution G A intron_variant MELA-AU 6 125378975 125378975 single base substitution G A intron_variant MELA-AU 6 125379542 125379542 single base substitution G A intron_variant MELA-AU 6 125379772 125379772 single base substitution G A intron_variant MELA-AU 6 125379985 125379985 single base substitution C T intron_variant MELA-AU 6 125380220 125380220 single base substitution G A intron_variant MELA-AU 6 125380262 125380262 single base substitution C T intron_variant MELA-AU 6 125380410 125380410 single base substitution C T intron_variant MELA-AU 6 125380419 125380420 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 125380514 125380514 single base substitution C T intron_variant MELA-AU 6 125380521 125380521 single base substitution G A intron_variant MELA-AU 6 125380842 125380842 single base substitution A G intron_variant MELA-AU 6 125381026 125381026 single base substitution G A intron_variant MELA-AU 6 125381526 125381526 single base substitution C T intron_variant MELA-AU 6 125381725 125381725 single base substitution G A intron_variant MELA-AU 6 125381749 125381750 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 125382239 125382239 single base substitution G A intron_variant MELA-AU 6 125382588 125382588 single base substitution T A intron_variant MELA-AU 6 125382731 125382731 single base substitution C T intron_variant MELA-AU 6 125382732 125382732 single base substitution C T intron_variant MELA-AU 6 125382774 125382774 single base substitution C T intron_variant MELA-AU 6 125382775 125382775 single base substitution G T intron_variant MELA-AU 6 125383026 125383026 single base substitution C T intron_variant MELA-AU 6 125383394 125383394 single base substitution C T intron_variant MELA-AU 6 125383549 125383549 single base substitution C T intron_variant MELA-AU 6 125383581 125383581 single base substitution A T intron_variant MELA-AU 6 125383752 125383752 single base substitution C T intron_variant MELA-AU 6 125383826 125383826 single base substitution G A intron_variant MELA-AU 6 125383926 125383926 single base substitution T C intron_variant MELA-AU 6 125384113 125384113 single base substitution G A intron_variant MELA-AU 6 125384390 125384390 single base substitution T G intron_variant MELA-AU 6 125384415 125384415 single base substitution G A intron_variant MELA-AU 6 125384433 125384433 single base substitution C A intron_variant MELA-AU 6 125384506 125384506 single base substitution C T intron_variant MELA-AU 6 125384525 125384525 single base substitution G A intron_variant MELA-AU 6 125384587 125384587 single base substitution A C intron_variant MELA-AU 6 125384794 125384794 single base substitution G A intron_variant MELA-AU 6 125385056 125385056 single base substitution T C intron_variant MELA-AU 6 125385069 125385069 single base substitution C T intron_variant MELA-AU 6 125385123 125385123 single base substitution C T intron_variant MELA-AU 6 125385371 125385371 single base substitution C T intron_variant MELA-AU 6 125385442 125385442 single base substitution C T intron_variant MELA-AU 6 125385688 125385688 single base substitution G A intron_variant MELA-AU 6 125385880 125385880 single base substitution G A intron_variant MELA-AU 6 125386217 125386217 single base substitution C T intron_variant MELA-AU 6 125386596 125386596 single base substitution G A intron_variant MELA-AU 6 125386764 125386764 single base substitution G A intron_variant MELA-AU 6 125387002 125387002 single base substitution G A intron_variant MELA-AU 6 125387571 125387571 single base substitution A G intron_variant MELA-AU 6 125387761 125387761 single base substitution C T intron_variant MELA-AU 6 125387800 125387800 single base substitution C T intron_variant MELA-AU 6 125387872 125387872 single base substitution C T intron_variant MELA-AU 6 125388217 125388217 single base substitution G A intron_variant MELA-AU 6 125388262 125388262 single base substitution G A intron_variant MELA-AU 6 125388495 125388495 single base substitution G A intron_variant MELA-AU 6 125388681 125388681 single base substitution G A intron_variant MELA-AU 6 125388728 125388728 single base substitution C T intron_variant MELA-AU 6 125388975 125388975 single base substitution C T intron_variant MELA-AU 6 125389156 125389156 single base substitution A G intron_variant MELA-AU 6 125389174 125389174 single base substitution C T intron_variant MELA-AU 6 125389286 125389286 single base substitution G A intron_variant MELA-AU 6 125389356 125389356 single base substitution G A intron_variant MELA-AU 6 125389466 125389466 single base substitution G A intron_variant MELA-AU 6 125389517 125389517 single base substitution C T intron_variant MELA-AU 6 125389555 125389555 single base substitution C G intron_variant MELA-AU 6 125389558 125389558 single base substitution C T intron_variant MELA-AU 6 125389853 125389853 single base substitution C T intron_variant MELA-AU 6 125390048 125390048 single base substitution G A intron_variant MELA-AU 6 125390052 125390052 single base substitution G A intron_variant MELA-AU 6 125390112 125390112 single base substitution G A intron_variant MELA-AU 6 125390113 125390114 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 125390117 125390117 single base substitution A G intron_variant MELA-AU 6 125390187 125390187 single base substitution G A intron_variant MELA-AU 6 125390307 125390307 single base substitution G A intron_variant MELA-AU 6 125390610 125390610 single base substitution A C intron_variant MELA-AU 6 125390756 125390756 single base substitution G A intron_variant MELA-AU 6 125390778 125390778 single base substitution C T intron_variant MELA-AU 6 125390872 125390872 single base substitution C T intron_variant MELA-AU 6 125390991 125390991 single base substitution G A intron_variant MELA-AU 6 125391009 125391009 single base substitution T A intron_variant MELA-AU 6 125391034 125391034 single base substitution C T intron_variant MELA-AU 6 125391077 125391078 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 6 125391103 125391103 single base substitution C T intron_variant MELA-AU 6 125391172 125391173 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 125391201 125391201 single base substitution C T intron_variant MELA-AU 6 125391209 125391209 single base substitution C T intron_variant MELA-AU 6 125391390 125391390 single base substitution C T intron_variant MELA-AU 6 125391482 125391482 single base substitution C T intron_variant MELA-AU 6 125391640 125391640 single base substitution C T intron_variant MELA-AU 6 125391853 125391853 single base substitution G A intron_variant MELA-AU 6 125391925 125391925 single base substitution G A intron_variant MELA-AU 6 125391956 125391956 single base substitution G A intron_variant MELA-AU 6 125392345 125392345 single base substitution G A intron_variant MELA-AU 6 125392352 125392352 single base substitution C T intron_variant MELA-AU 6 125392360 125392360 single base substitution C T intron_variant MELA-AU 6 125392416 125392416 single base substitution C T intron_variant MELA-AU 6 125392425 125392425 single base substitution C T intron_variant MELA-AU 6 125392480 125392480 single base substitution C T intron_variant MELA-AU 6 125392885 125392885 single base substitution C T intron_variant MELA-AU 6 125393011 125393011 single base substitution C T intron_variant MELA-AU 6 125393106 125393106 single base substitution G A intron_variant MELA-AU 6 125393252 125393252 single base substitution T C intron_variant MELA-AU 6 125393282 125393282 single base substitution G A intron_variant MELA-AU 6 125393290 125393290 single base substitution G A intron_variant MELA-AU 6 125393336 125393336 single base substitution C T intron_variant MELA-AU 6 125393460 125393460 single base substitution G A intron_variant MELA-AU 6 125393937 125393937 single base substitution G A intron_variant MELA-AU 6 125394038 125394038 single base substitution C T intron_variant MELA-AU 6 125394244 125394244 single base substitution C T intron_variant MELA-AU 6 125394562 125394562 single base substitution C T intron_variant MELA-AU 6 125394582 125394583 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 125394647 125394647 single base substitution C T intron_variant MELA-AU 6 125394674 125394674 single base substitution G A intron_variant MELA-AU 6 125394714 125394714 single base substitution C T intron_variant MELA-AU 6 125395168 125395168 single base substitution C T intron_variant MELA-AU 6 125395327 125395327 single base substitution C T intron_variant MELA-AU 6 125395404 125395404 single base substitution G A intron_variant MELA-AU 6 125395553 125395553 single base substitution T C intron_variant MELA-AU 6 125395606 125395606 single base substitution G A intron_variant MELA-AU 6 125395715 125395715 single base substitution C T intron_variant MELA-AU 6 125396157 125396157 single base substitution G A intron_variant MELA-AU 6 125396475 125396475 single base substitution C T intron_variant MELA-AU 6 125396619 125396619 single base substitution G A intron_variant MELA-AU 6 125396768 125396768 single base substitution G A intron_variant MELA-AU 6 125396800 125396800 single base substitution G A intron_variant MELA-AU 6 125397134 125397134 single base substitution C T intron_variant MELA-AU 6 125397280 125397280 single base substitution G A intron_variant MELA-AU 6 125397284 125397284 single base substitution A G intron_variant MELA-AU 6 125397349 125397349 single base substitution T A intron_variant MELA-AU 6 125397523 125397523 single base substitution G A intron_variant MELA-AU 6 125397537 125397537 single base substitution C T intron_variant MELA-AU 6 125397658 125397658 single base substitution T C intron_variant MELA-AU 6 125397709 125397709 single base substitution G A intron_variant MELA-AU 6 125397774 125397774 single base substitution C T intron_variant MELA-AU 6 125397784 125397785 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 125397950 125397950 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125397950 125397950 single base substitution C T exon_variant MELA-AU 6 125397950 125397950 single base substitution C T missense_variant R121C 361C>T MELA-AU 6 125397950 125397950 single base substitution C T missense_variant R185C 553C>T MELA-AU 6 125397950 125397950 single base substitution C T missense_variant R242C 724C>T MELA-AU 6 125397950 125397950 single base substitution C T missense_variant R39C 115C>T MELA-AU 6 125397950 125397950 single base substitution C T missense_variant R477C 1429C>T MELA-AU 6 125398089 125398089 single base substitution C T downstream_gene_variant MELA-AU 6 125398089 125398089 single base substitution C T intron_variant MELA-AU 6 125398260 125398260 single base substitution C T downstream_gene_variant MELA-AU 6 125398260 125398260 single base substitution C T intron_variant MELA-AU 6 125398427 125398427 single base substitution A T downstream_gene_variant MELA-AU 6 125398427 125398427 single base substitution A T intron_variant MELA-AU 6 125398500 125398500 single base substitution C T downstream_gene_variant MELA-AU 6 125398500 125398500 single base substitution C T intron_variant MELA-AU 6 125398539 125398539 single base substitution A G downstream_gene_variant MELA-AU 6 125398539 125398539 single base substitution A G intron_variant MELA-AU 6 125398825 125398825 single base substitution T A downstream_gene_variant MELA-AU 6 125398825 125398825 single base substitution T A intron_variant MELA-AU 6 125398856 125398856 single base substitution C T downstream_gene_variant MELA-AU 6 125398856 125398856 single base substitution C T intron_variant MELA-AU 6 125398927 125398927 single base substitution C T downstream_gene_variant MELA-AU 6 125398927 125398927 single base substitution C T intron_variant MELA-AU 6 125398942 125398942 single base substitution C T downstream_gene_variant MELA-AU 6 125398942 125398942 single base substitution C T intron_variant MELA-AU 6 125399090 125399090 single base substitution C T downstream_gene_variant MELA-AU 6 125399090 125399090 single base substitution C T intron_variant MELA-AU 6 125399136 125399136 single base substitution G A downstream_gene_variant MELA-AU 6 125399136 125399136 single base substitution G A intron_variant MELA-AU 6 125399190 125399190 single base substitution C T downstream_gene_variant MELA-AU 6 125399190 125399190 single base substitution C T intron_variant MELA-AU 6 125399255 125399255 single base substitution G A downstream_gene_variant MELA-AU 6 125399255 125399255 single base substitution G A intron_variant MELA-AU 6 125399294 125399294 single base substitution G A downstream_gene_variant MELA-AU 6 125399294 125399294 single base substitution G A intron_variant MELA-AU 6 125399315 125399315 single base substitution C T downstream_gene_variant MELA-AU 6 125399315 125399315 single base substitution C T intron_variant MELA-AU 6 125399351 125399351 single base substitution G A downstream_gene_variant MELA-AU 6 125399351 125399351 single base substitution G A intron_variant MELA-AU 6 125399385 125399385 single base substitution C T downstream_gene_variant MELA-AU 6 125399385 125399385 single base substitution C T intron_variant MELA-AU 6 125399549 125399549 single base substitution C T downstream_gene_variant MELA-AU 6 125399549 125399549 single base substitution C T intron_variant MELA-AU 6 125399555 125399555 single base substitution T A downstream_gene_variant MELA-AU 6 125399555 125399555 single base substitution T A intron_variant MELA-AU 6 125399586 125399586 single base substitution C T downstream_gene_variant MELA-AU 6 125399586 125399586 single base substitution C T intron_variant MELA-AU 6 125399710 125399710 single base substitution C T downstream_gene_variant MELA-AU 6 125399710 125399710 single base substitution C T intron_variant MELA-AU 6 125399829 125399829 single base substitution C T downstream_gene_variant MELA-AU 6 125399829 125399829 single base substitution C T intron_variant MELA-AU 6 125400029 125400029 single base substitution C T downstream_gene_variant MELA-AU 6 125400029 125400029 single base substitution C T intron_variant MELA-AU 6 125400049 125400049 single base substitution G A downstream_gene_variant MELA-AU 6 125400049 125400049 single base substitution G A intron_variant MELA-AU 6 125400085 125400085 single base substitution C T downstream_gene_variant MELA-AU 6 125400085 125400085 single base substitution C T intron_variant MELA-AU 6 125400095 125400095 single base substitution C T downstream_gene_variant MELA-AU 6 125400095 125400095 single base substitution C T intron_variant MELA-AU 6 125400099 125400099 single base substitution G A downstream_gene_variant MELA-AU 6 125400099 125400099 single base substitution G A intron_variant MELA-AU 6 125400107 125400107 single base substitution G A downstream_gene_variant MELA-AU 6 125400107 125400107 single base substitution G A intron_variant MELA-AU 6 125400130 125400130 single base substitution C T downstream_gene_variant MELA-AU 6 125400130 125400130 single base substitution C T intron_variant MELA-AU 6 125400260 125400260 single base substitution C T downstream_gene_variant MELA-AU 6 125400260 125400260 single base substitution C T intron_variant MELA-AU 6 125400520 125400520 single base substitution C T downstream_gene_variant MELA-AU 6 125400520 125400520 single base substitution C T intron_variant MELA-AU 6 125400561 125400561 single base substitution T G downstream_gene_variant MELA-AU 6 125400561 125400561 single base substitution T G intron_variant MELA-AU 6 125400565 125400565 single base substitution C T downstream_gene_variant MELA-AU 6 125400565 125400565 single base substitution C T intron_variant MELA-AU 6 125401041 125401041 single base substitution G T downstream_gene_variant MELA-AU 6 125401041 125401041 single base substitution G T intron_variant MELA-AU 6 125401136 125401136 single base substitution C T downstream_gene_variant MELA-AU 6 125401136 125401136 single base substitution C T intron_variant MELA-AU 6 125401165 125401165 single base substitution G A downstream_gene_variant MELA-AU 6 125401165 125401165 single base substitution G A intron_variant MELA-AU 6 125401177 125401177 single base substitution C G downstream_gene_variant MELA-AU 6 125401177 125401177 single base substitution C G intron_variant MELA-AU 6 125401327 125401327 single base substitution C T downstream_gene_variant MELA-AU 6 125401327 125401327 single base substitution C T intron_variant MELA-AU 6 125401371 125401371 single base substitution G A downstream_gene_variant MELA-AU 6 125401371 125401371 single base substitution G A intron_variant MELA-AU 6 125401385 125401385 single base substitution C T downstream_gene_variant MELA-AU 6 125401385 125401385 single base substitution C T intron_variant MELA-AU 6 125402078 125402078 single base substitution C T downstream_gene_variant MELA-AU 6 125402078 125402078 single base substitution C T intron_variant MELA-AU 6 125402578 125402578 single base substitution C T downstream_gene_variant MELA-AU 6 125402578 125402578 single base substitution C T splice_region_variant MELA-AU 6 125402872 125402872 single base substitution C T downstream_gene_variant MELA-AU 6 125402872 125402872 single base substitution C T intron_variant MELA-AU 6 125403028 125403028 single base substitution C T intron_variant MELA-AU 6 125403256 125403256 single base substitution C T intron_variant MELA-AU 6 125403385 125403385 single base substitution G A intron_variant MELA-AU 6 125403416 125403416 single base substitution C T intron_variant MELA-AU 6 125403791 125403791 single base substitution C T intron_variant MELA-AU 6 125403860 125403860 single base substitution G A intron_variant MELA-AU 6 125403886 125403886 single base substitution C T intron_variant MELA-AU 6 125404012 125404012 single base substitution T A missense_variant F266Y 797T>A MELA-AU 6 125404012 125404012 single base substitution T A missense_variant L164I 490T>A MELA-AU 6 125404012 125404012 single base substitution T A missense_variant L285I 853T>A MELA-AU 6 125404012 125404012 single base substitution T A missense_variant L520I 1558T>A MELA-AU 6 125404012 125404012 single base substitution T A missense_variant L82I 244T>A MELA-AU 6 125404012 125404012 single base substitution T A splice_region_variant MELA-AU 6 125404306 125404306 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125404306 125404306 single base substitution C T downstream_gene_variant MELA-AU 6 125404626 125404626 single base substitution A T 3_prime_UTR_variant MELA-AU 6 125404626 125404626 single base substitution A T downstream_gene_variant MELA-AU 6 125404978 125404978 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125404978 125404978 single base substitution C T downstream_gene_variant MELA-AU 6 125404991 125404991 single base substitution G A 3_prime_UTR_variant MELA-AU 6 125404991 125404991 single base substitution G A downstream_gene_variant MELA-AU 6 125405165 125405165 single base substitution A G 3_prime_UTR_variant MELA-AU 6 125405165 125405165 single base substitution A G downstream_gene_variant MELA-AU 6 125405566 125405566 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125405566 125405566 single base substitution C T downstream_gene_variant MELA-AU 6 125405787 125405787 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125405787 125405787 single base substitution C T downstream_gene_variant MELA-AU 6 125405842 125405842 single base substitution G A 3_prime_UTR_variant MELA-AU 6 125405842 125405842 single base substitution G A downstream_gene_variant MELA-AU 6 125405963 125405963 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125405963 125405963 single base substitution C T downstream_gene_variant MELA-AU 6 125406082 125406082 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125406082 125406082 single base substitution C T downstream_gene_variant MELA-AU 6 125406183 125406183 single base substitution G A 3_prime_UTR_variant MELA-AU 6 125406183 125406183 single base substitution G A downstream_gene_variant MELA-AU 6 125406393 125406393 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125406393 125406393 single base substitution C T downstream_gene_variant MELA-AU 6 125406433 125406433 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125406433 125406433 single base substitution C T downstream_gene_variant MELA-AU 6 125406436 125406436 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125406436 125406436 single base substitution C T downstream_gene_variant MELA-AU 6 125406932 125406932 single base substitution A C 3_prime_UTR_variant MELA-AU 6 125406932 125406932 single base substitution A C downstream_gene_variant MELA-AU 6 125407404 125407404 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125407404 125407404 single base substitution C T downstream_gene_variant MELA-AU 6 125407452 125407452 single base substitution G A 3_prime_UTR_variant MELA-AU 6 125407452 125407452 single base substitution G A downstream_gene_variant MELA-AU 6 125407548 125407548 single base substitution G A 3_prime_UTR_variant MELA-AU 6 125407548 125407548 single base substitution G A downstream_gene_variant MELA-AU 6 125407592 125407592 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125407592 125407592 single base substitution C T downstream_gene_variant MELA-AU 6 125407766 125407766 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125407766 125407766 single base substitution C T downstream_gene_variant MELA-AU 6 125408035 125408035 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125408035 125408035 single base substitution C T downstream_gene_variant MELA-AU 6 125408051 125408051 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125408051 125408051 single base substitution C T downstream_gene_variant MELA-AU 6 125408077 125408077 single base substitution G A 3_prime_UTR_variant MELA-AU 6 125408077 125408077 single base substitution G A downstream_gene_variant MELA-AU 6 125408137 125408137 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125408137 125408137 single base substitution C T downstream_gene_variant MELA-AU 6 125408230 125408230 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125408230 125408230 single base substitution C T downstream_gene_variant MELA-AU 6 125408571 125408571 single base substitution G A 3_prime_UTR_variant MELA-AU 6 125408571 125408571 single base substitution G A downstream_gene_variant MELA-AU 6 125408941 125408941 single base substitution G A 3_prime_UTR_variant MELA-AU 6 125408941 125408941 single base substitution G A downstream_gene_variant MELA-AU 6 125409397 125409397 single base substitution G A 3_prime_UTR_variant MELA-AU 6 125409397 125409397 single base substitution G A downstream_gene_variant MELA-AU 6 125409440 125409440 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125409440 125409440 single base substitution C T downstream_gene_variant MELA-AU 6 125409495 125409495 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125409495 125409495 single base substitution C T downstream_gene_variant MELA-AU 6 125409888 125409888 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125409893 125409893 single base substitution G A 3_prime_UTR_variant MELA-AU 6 125410066 125410066 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125410096 125410096 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125410485 125410485 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125410696 125410696 single base substitution G A 3_prime_UTR_variant MELA-AU 6 125410902 125410902 single base substitution A G 3_prime_UTR_variant MELA-AU 6 125411145 125411145 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125411264 125411264 single base substitution G A 3_prime_UTR_variant MELA-AU 6 125411355 125411355 single base substitution G A 3_prime_UTR_variant MELA-AU 6 125411479 125411479 single base substitution G A 3_prime_UTR_variant MELA-AU 6 125411875 125411875 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125412499 125412499 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125412542 125412542 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125412625 125412625 single base substitution T C 3_prime_UTR_variant MELA-AU 6 125412902 125412902 single base substitution T C 3_prime_UTR_variant MELA-AU 6 125413006 125413006 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125413490 125413490 single base substitution C G 3_prime_UTR_variant MELA-AU 6 125413495 125413495 single base substitution C T 3_prime_UTR_variant MELA-AU 6 125413779 125413779 single base substitution A T 3_prime_UTR_variant MELA-AU 6 125413795 125413795 single base substitution C T downstream_gene_variant MELA-AU 6 125413893 125413893 single base substitution G A downstream_gene_variant MELA-AU 6 125413940 125413940 single base substitution G A downstream_gene_variant MELA-AU 6 125413959 125413959 single base substitution T C downstream_gene_variant MELA-AU 6 125413997 125413997 single base substitution G A downstream_gene_variant MELA-AU 6 125414022 125414022 single base substitution G A downstream_gene_variant MELA-AU 6 125414258 125414258 single base substitution C T downstream_gene_variant MELA-AU 6 125414312 125414312 single base substitution G A downstream_gene_variant MELA-AU 6 125414615 125414615 single base substitution G A downstream_gene_variant MELA-AU 6 125415117 125415117 single base substitution G A downstream_gene_variant MELA-AU 6 125415232 125415232 single base substitution C T downstream_gene_variant MELA-AU 6 125415346 125415346 single base substitution C T downstream_gene_variant MELA-AU 6 125415355 125415355 single base substitution G A downstream_gene_variant MELA-AU 6 125415416 125415416 single base substitution G A downstream_gene_variant MELA-AU 6 125415674 125415674 single base substitution C T downstream_gene_variant MELA-AU 6 125415694 125415694 single base substitution C T downstream_gene_variant MELA-AU 6 125415969 125415969 single base substitution C T downstream_gene_variant MELA-AU 6 125416074 125416074 single base substitution C T downstream_gene_variant MELA-AU 6 125416226 125416226 single base substitution C T downstream_gene_variant MELA-AU 6 125416387 125416387 single base substitution G A downstream_gene_variant MELA-AU 6 125416642 125416642 single base substitution G A downstream_gene_variant MELA-AU 6 125416945 125416945 single base substitution C T downstream_gene_variant MELA-AU 6 125417206 125417206 single base substitution C T downstream_gene_variant MELA-AU 6 125417369 125417369 single base substitution C T downstream_gene_variant MELA-AU 6 125417735 125417735 single base substitution G A downstream_gene_variant MELA-AU 6 125417869 125417869 single base substitution G A downstream_gene_variant MELA-AU 6 125418403 125418403 single base substitution G A downstream_gene_variant MELA-AU 6 125418466 125418466 single base substitution C T downstream_gene_variant MELA-AU 6 125418688 125418688 single base substitution G A downstream_gene_variant ORCA-IN 6 125290804 125290804 single base substitution C A intron_variant ORCA-IN 6 125290804 125290804 single base substitution C A upstream_gene_variant ORCA-IN 6 125291634 125291634 single base substitution G C intron_variant ORCA-IN 6 125291634 125291634 single base substitution G C upstream_gene_variant ORCA-IN 6 125309306 125309306 single base substitution G A intron_variant ORCA-IN 6 125341387 125341387 single base substitution C T intron_variant ORCA-IN 6 125366394 125366394 single base substitution C A 3_prime_UTR_variant ORCA-IN 6 125366394 125366394 single base substitution C A 5_prime_UTR_variant ORCA-IN 6 125366394 125366394 single base substitution C A exon_variant ORCA-IN 6 125366394 125366394 single base substitution C A missense_variant T15K 44C>A ORCA-IN 6 125366394 125366394 single base substitution C A missense_variant T307K 920C>A ORCA-IN 6 125366394 125366394 single base substitution C A missense_variant T72K 215C>A ORCA-IN 6 125366394 125366394 single base substitution C A upstream_gene_variant ORCA-IN 6 125381527 125381528 deletion of <=200bp AT - intron_variant ORCA-IN 6 125395447 125395447 single base substitution A G intron_variant ORCA-IN 6 125399766 125399766 single base substitution G T downstream_gene_variant ORCA-IN 6 125399766 125399766 single base substitution G T intron_variant ORCA-IN 6 125411381 125411381 single base substitution G A 3_prime_UTR_variant OV-AU 6 125282780 125282780 single base substitution G C upstream_gene_variant OV-AU 6 125289349 125289349 single base substitution C T intron_variant OV-AU 6 125289349 125289349 single base substitution C T upstream_gene_variant OV-AU 6 125311575 125311575 single base substitution A G intron_variant OV-AU 6 125311727 125311727 single base substitution C G intron_variant OV-AU 6 125315836 125315836 single base substitution C G intron_variant OV-AU 6 125322839 125322839 single base substitution C T intron_variant OV-AU 6 125330355 125330355 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant OV-AU 6 125330355 125330355 single base substitution G T exon_variant OV-AU 6 125330355 125330355 single base substitution G T intron_variant OV-AU 6 125331450 125331450 single base substitution C A downstream_gene_variant OV-AU 6 125331450 125331450 single base substitution C A intron_variant OV-AU 6 125332478 125332478 single base substitution C A downstream_gene_variant OV-AU 6 125332478 125332478 single base substitution C A intron_variant OV-AU 6 125343892 125343892 single base substitution A G intron_variant OV-AU 6 125344813 125344813 single base substitution C G intron_variant OV-AU 6 125352593 125352593 single base substitution A G intron_variant OV-AU 6 125356786 125356786 single base substitution G T intron_variant OV-AU 6 125356836 125356836 single base substitution T G intron_variant OV-AU 6 125357741 125357741 single base substitution G C intron_variant OV-AU 6 125359388 125359388 single base substitution T A intron_variant OV-AU 6 125360064 125360064 single base substitution A G intron_variant OV-AU 6 125361298 125361298 single base substitution G C intron_variant OV-AU 6 125361370 125361370 single base substitution G A intron_variant OV-AU 6 125361380 125361380 single base substitution G C intron_variant OV-AU 6 125361997 125361997 single base substitution G A intron_variant OV-AU 6 125361997 125361997 single base substitution G A upstream_gene_variant OV-AU 6 125363350 125363350 single base substitution G C intron_variant OV-AU 6 125363350 125363350 single base substitution G C upstream_gene_variant OV-AU 6 125364343 125364343 single base substitution A G intron_variant OV-AU 6 125364343 125364343 single base substitution A G upstream_gene_variant OV-AU 6 125366426 125366426 single base substitution G A 3_prime_UTR_variant OV-AU 6 125366426 125366426 single base substitution G A 5_prime_UTR_variant OV-AU 6 125366426 125366426 single base substitution G A exon_variant OV-AU 6 125366426 125366426 single base substitution G A missense_variant V26I 76G>A OV-AU 6 125366426 125366426 single base substitution G A missense_variant V318I 952G>A OV-AU 6 125366426 125366426 single base substitution G A missense_variant V83I 247G>A OV-AU 6 125366426 125366426 single base substitution G A upstream_gene_variant OV-AU 6 125366726 125366726 single base substitution G A downstream_gene_variant OV-AU 6 125366726 125366726 single base substitution G A intron_variant OV-AU 6 125366726 125366726 single base substitution G A upstream_gene_variant OV-AU 6 125375228 125375228 single base substitution C A intron_variant OV-AU 6 125392874 125392874 single base substitution A G intron_variant OV-AU 6 125394438 125394438 single base substitution A T intron_variant OV-AU 6 125395104 125395104 single base substitution C T intron_variant PACA-AU 6 125278991 125278991 single base substitution A C upstream_gene_variant PACA-AU 6 125282357 125282357 single base substitution C A upstream_gene_variant PACA-AU 6 125285262 125285262 single base substitution G A intron_variant PACA-AU 6 125286200 125286200 single base substitution G T intron_variant PACA-AU 6 125286648 125286648 single base substitution G A intron_variant PACA-AU 6 125289866 125289866 deletion of <=200bp T - intron_variant PACA-AU 6 125289866 125289866 deletion of <=200bp T - upstream_gene_variant PACA-AU 6 125295887 125295887 single base substitution A T downstream_gene_variant PACA-AU 6 125295887 125295887 single base substitution A T intron_variant PACA-AU 6 125300179 125300179 single base substitution A C intron_variant PACA-AU 6 125300179 125300179 single base substitution A C upstream_gene_variant PACA-AU 6 125301116 125301116 single base substitution T C intron_variant PACA-AU 6 125301116 125301116 single base substitution T C upstream_gene_variant PACA-AU 6 125301130 125301130 single base substitution G C intron_variant PACA-AU 6 125301130 125301130 single base substitution G C upstream_gene_variant PACA-AU 6 125302525 125302525 single base substitution C T intron_variant PACA-AU 6 125302525 125302525 single base substitution C T upstream_gene_variant PACA-AU 6 125322879 125322879 single base substitution G T intron_variant PACA-AU 6 125325071 125325071 single base substitution C A intron_variant PACA-AU 6 125325071 125325071 single base substitution C A upstream_gene_variant PACA-AU 6 125325567 125325567 single base substitution G A intron_variant PACA-AU 6 125325567 125325567 single base substitution G A upstream_gene_variant PACA-AU 6 125327310 125327310 single base substitution A G 5_prime_UTR_variant PACA-AU 6 125327310 125327310 single base substitution A G intron_variant PACA-AU 6 125327310 125327310 single base substitution A G upstream_gene_variant PACA-AU 6 125329689 125329689 single base substitution C G intron_variant PACA-AU 6 125329689 125329689 single base substitution C G upstream_gene_variant PACA-AU 6 125335555 125335555 single base substitution G A downstream_gene_variant PACA-AU 6 125335555 125335555 single base substitution G A intron_variant PACA-AU 6 125350739 125350739 single base substitution A G intron_variant PACA-AU 6 125350776 125350776 single base substitution C T intron_variant PACA-AU 6 125357162 125357162 single base substitution G A intron_variant PACA-AU 6 125360280 125360280 single base substitution G A intron_variant PACA-AU 6 125360608 125360608 single base substitution G A intron_variant PACA-AU 6 125367304 125367304 single base substitution C T downstream_gene_variant PACA-AU 6 125367304 125367304 single base substitution C T intron_variant PACA-AU 6 125367304 125367304 single base substitution C T upstream_gene_variant PACA-AU 6 125373622 125373622 single base substitution T G intron_variant PACA-AU 6 125375180 125375180 single base substitution G T intron_variant PACA-AU 6 125377366 125377366 single base substitution C T intron_variant PACA-AU 6 125377811 125377811 single base substitution T G intron_variant PACA-AU 6 125378400 125378400 single base substitution G A intron_variant PACA-AU 6 125385423 125385423 single base substitution A C intron_variant PACA-AU 6 125387498 125387498 single base substitution C T intron_variant PACA-AU 6 125390842 125390842 single base substitution A G intron_variant PACA-AU 6 125392350 125392350 single base substitution T C intron_variant PACA-AU 6 125398149 125398149 single base substitution A C downstream_gene_variant PACA-AU 6 125398149 125398149 single base substitution A C intron_variant PACA-AU 6 125398406 125398406 single base substitution G A downstream_gene_variant PACA-AU 6 125398406 125398406 single base substitution G A intron_variant PACA-AU 6 125400361 125400361 single base substitution G C downstream_gene_variant PACA-AU 6 125400361 125400361 single base substitution G C intron_variant PACA-AU 6 125401358 125401358 insertion of <=200bp - T downstream_gene_variant PACA-AU 6 125401358 125401358 insertion of <=200bp - T intron_variant PACA-AU 6 125401990 125401990 single base substitution T C downstream_gene_variant PACA-AU 6 125401990 125401990 single base substitution T C intron_variant PACA-AU 6 125403934 125403934 single base substitution T C intron_variant PACA-AU 6 125404160 125404160 single base substitution T C 3_prime_UTR_variant PACA-AU 6 125404160 125404160 single base substitution T C downstream_gene_variant PACA-AU 6 125408292 125408292 single base substitution G A 3_prime_UTR_variant PACA-AU 6 125408292 125408292 single base substitution G A downstream_gene_variant PACA-AU 6 125413512 125413512 single base substitution C A 3_prime_UTR_variant PACA-CA 6 125279470 125279470 single base substitution A G upstream_gene_variant PACA-CA 6 125280547 125280547 single base substitution T G upstream_gene_variant PACA-CA 6 125285034 125285034 single base substitution A G intron_variant PACA-CA 6 125287226 125287226 single base substitution G T intron_variant PACA-CA 6 125292441 125292441 single base substitution A G exon_variant PACA-CA 6 125292441 125292441 single base substitution A G intron_variant PACA-CA 6 125294447 125294447 single base substitution C T downstream_gene_variant PACA-CA 6 125294447 125294447 single base substitution C T intron_variant PACA-CA 6 125295434 125295434 single base substitution T G downstream_gene_variant PACA-CA 6 125295434 125295434 single base substitution T G intron_variant PACA-CA 6 125295568 125295568 single base substitution T C downstream_gene_variant PACA-CA 6 125295568 125295568 single base substitution T C intron_variant PACA-CA 6 125296423 125296423 single base substitution A G downstream_gene_variant PACA-CA 6 125296423 125296423 single base substitution A G intron_variant PACA-CA 6 125296759 125296759 single base substitution T A downstream_gene_variant PACA-CA 6 125296759 125296759 single base substitution T A intron_variant PACA-CA 6 125303326 125303326 single base substitution A G intron_variant PACA-CA 6 125303326 125303326 single base substitution A G upstream_gene_variant PACA-CA 6 125306000 125306000 single base substitution A G intron_variant PACA-CA 6 125308229 125308229 deletion of <=200bp T - intron_variant PACA-CA 6 125309278 125309278 single base substitution C T intron_variant PACA-CA 6 125313990 125313990 single base substitution A C intron_variant PACA-CA 6 125315210 125315210 single base substitution A G intron_variant PACA-CA 6 125315438 125315438 single base substitution C G intron_variant PACA-CA 6 125318568 125318568 single base substitution G A intron_variant PACA-CA 6 125320202 125320202 single base substitution A G intron_variant PACA-CA 6 125326920 125326920 single base substitution A C intron_variant PACA-CA 6 125326920 125326920 single base substitution A C upstream_gene_variant PACA-CA 6 125327899 125327899 single base substitution A T intron_variant PACA-CA 6 125327899 125327899 single base substitution A T upstream_gene_variant PACA-CA 6 125328469 125328469 single base substitution G A intron_variant PACA-CA 6 125328469 125328469 single base substitution G A upstream_gene_variant PACA-CA 6 125333968 125333968 single base substitution T G downstream_gene_variant PACA-CA 6 125333968 125333968 single base substitution T G intron_variant PACA-CA 6 125335782 125335782 single base substitution A T intron_variant PACA-CA 6 125336048 125336048 single base substitution C T intron_variant PACA-CA 6 125337780 125337780 deletion of <=200bp A - intron_variant PACA-CA 6 125340907 125340907 single base substitution C T intron_variant PACA-CA 6 125341553 125341553 single base substitution A G intron_variant PACA-CA 6 125344755 125344755 single base substitution G T intron_variant PACA-CA 6 125346759 125346759 single base substitution T C intron_variant PACA-CA 6 125347971 125347971 deletion of <=200bp A - intron_variant PACA-CA 6 125350235 125350235 single base substitution G A intron_variant PACA-CA 6 125350422 125350422 deletion of <=200bp C - intron_variant PACA-CA 6 125350947 125350947 single base substitution T A intron_variant PACA-CA 6 125351951 125351951 single base substitution G T intron_variant PACA-CA 6 125362545 125362545 single base substitution C T intron_variant PACA-CA 6 125362545 125362545 single base substitution C T upstream_gene_variant PACA-CA 6 125362671 125362671 single base substitution C T intron_variant PACA-CA 6 125362671 125362671 single base substitution C T upstream_gene_variant PACA-CA 6 125363168 125363168 single base substitution G C intron_variant PACA-CA 6 125363168 125363168 single base substitution G C upstream_gene_variant PACA-CA 6 125363825 125363825 single base substitution A G intron_variant PACA-CA 6 125363825 125363825 single base substitution A G upstream_gene_variant PACA-CA 6 125364916 125364916 single base substitution C A intron_variant PACA-CA 6 125364916 125364916 single base substitution C A upstream_gene_variant PACA-CA 6 125365215 125365215 single base substitution T A intron_variant PACA-CA 6 125365215 125365215 single base substitution T A upstream_gene_variant PACA-CA 6 125365287 125365287 single base substitution A G intron_variant PACA-CA 6 125365287 125365287 single base substitution A G upstream_gene_variant PACA-CA 6 125365350 125365350 single base substitution A G intron_variant PACA-CA 6 125365350 125365350 single base substitution A G upstream_gene_variant PACA-CA 6 125368407 125368407 single base substitution C G downstream_gene_variant PACA-CA 6 125368407 125368407 single base substitution C G intron_variant PACA-CA 6 125368407 125368407 single base substitution C G upstream_gene_variant PACA-CA 6 125372401 125372401 single base substitution A G intron_variant PACA-CA 6 125373069 125373069 single base substitution C T intron_variant PACA-CA 6 125373280 125373280 single base substitution T C intron_variant PACA-CA 6 125373646 125373646 single base substitution G A intron_variant PACA-CA 6 125374606 125374606 single base substitution T C intron_variant PACA-CA 6 125376544 125376544 single base substitution G A intron_variant PACA-CA 6 125383561 125383561 single base substitution G A intron_variant PACA-CA 6 125384900 125384900 single base substitution A C intron_variant PACA-CA 6 125388750 125388750 single base substitution G T intron_variant PACA-CA 6 125389671 125389671 single base substitution G A intron_variant PACA-CA 6 125390376 125390376 deletion of <=200bp A - intron_variant PACA-CA 6 125394108 125394108 single base substitution G T intron_variant PACA-CA 6 125396762 125396762 single base substitution C T intron_variant PACA-CA 6 125396907 125396907 single base substitution G A intron_variant PACA-CA 6 125398236 125398236 single base substitution G A downstream_gene_variant PACA-CA 6 125398236 125398236 single base substitution G A intron_variant PACA-CA 6 125398964 125398985 deletion of <=200bp CTTTATGAAAATCTTTATATCT - downstream_gene_variant PACA-CA 6 125398964 125398985 deletion of <=200bp CTTTATGAAAATCTTTATATCT - intron_variant PACA-CA 6 125400211 125400211 single base substitution G C downstream_gene_variant PACA-CA 6 125400211 125400211 single base substitution G C intron_variant PACA-CA 6 125400596 125400596 single base substitution A G downstream_gene_variant PACA-CA 6 125400596 125400596 single base substitution A G intron_variant PACA-CA 6 125401891 125401891 single base substitution A T downstream_gene_variant PACA-CA 6 125401891 125401891 single base substitution A T intron_variant PACA-CA 6 125405413 125405413 single base substitution T G 3_prime_UTR_variant PACA-CA 6 125405413 125405413 single base substitution T G downstream_gene_variant PACA-CA 6 125406586 125406597 deletion of <=200bp TTTTTTACTAAG - 3_prime_UTR_variant PACA-CA 6 125406586 125406597 deletion of <=200bp TTTTTTACTAAG - downstream_gene_variant PACA-CA 6 125407192 125407192 single base substitution G C 3_prime_UTR_variant PACA-CA 6 125407192 125407192 single base substitution G C downstream_gene_variant PACA-CA 6 125408153 125408153 single base substitution T G 3_prime_UTR_variant PACA-CA 6 125408153 125408153 single base substitution T G downstream_gene_variant PACA-CA 6 125412376 125412376 single base substitution A T 3_prime_UTR_variant PACA-CA 6 125412554 125412554 single base substitution G A 3_prime_UTR_variant PACA-CA 6 125413986 125413986 single base substitution C T downstream_gene_variant PACA-CA 6 125414012 125414012 single base substitution C G downstream_gene_variant PACA-CA 6 125417353 125417353 single base substitution G A downstream_gene_variant PACA-CA 6 125417610 125417610 single base substitution C T downstream_gene_variant PACA-CA 6 125418594 125418594 single base substitution C T downstream_gene_variant PAEN-AU 6 125322615 125322615 single base substitution G A intron_variant PAEN-AU 6 125360303 125360303 single base substitution A G intron_variant PAEN-AU 6 125394220 125394220 single base substitution G T intron_variant PAEN-AU 6 125406040 125406040 single base substitution G T 3_prime_UTR_variant PAEN-AU 6 125406040 125406040 single base substitution G T downstream_gene_variant PAEN-AU 6 125409132 125409132 single base substitution C T 3_prime_UTR_variant PAEN-AU 6 125409132 125409132 single base substitution C T downstream_gene_variant PAEN-IT 6 125292642 125292642 single base substitution A T exon_variant PAEN-IT 6 125292642 125292642 single base substitution A T intron_variant PAEN-IT 6 125292642 125292642 single base substitution A T splice_region_variant PAEN-IT 6 125299363 125299363 single base substitution C T intron_variant PAEN-IT 6 125319317 125319317 single base substitution C G intron_variant PAEN-IT 6 125319720 125319720 single base substitution C T intron_variant PAEN-IT 6 125332797 125332797 single base substitution T C downstream_gene_variant PAEN-IT 6 125332797 125332797 single base substitution T C intron_variant PAEN-IT 6 125340905 125340905 single base substitution C G intron_variant PAEN-IT 6 125353231 125353231 single base substitution G A intron_variant PBCA-DE 6 125288539 125288539 single base substitution G A intron_variant PBCA-DE 6 125288539 125288539 single base substitution G A upstream_gene_variant PBCA-DE 6 125289480 125289481 deletion of <=200bp TG - intron_variant PBCA-DE 6 125289480 125289481 deletion of <=200bp TG - upstream_gene_variant PBCA-DE 6 125292385 125292385 single base substitution C A intron_variant PBCA-DE 6 125292385 125292385 single base substitution C A upstream_gene_variant PBCA-DE 6 125292671 125292671 single base substitution G A exon_variant PBCA-DE 6 125292671 125292671 single base substitution G A intron_variant PBCA-DE 6 125296344 125296344 single base substitution G A downstream_gene_variant PBCA-DE 6 125296344 125296344 single base substitution G A intron_variant PBCA-DE 6 125301048 125301048 single base substitution A G intron_variant PBCA-DE 6 125301048 125301048 single base substitution A G upstream_gene_variant PBCA-DE 6 125307495 125307495 single base substitution G A intron_variant PBCA-DE 6 125310973 125310973 single base substitution T C intron_variant PBCA-DE 6 125338525 125338525 single base substitution G A intron_variant PBCA-DE 6 125341711 125341711 deletion of <=200bp T - intron_variant PBCA-DE 6 125342690 125342690 single base substitution C T intron_variant PBCA-DE 6 125344409 125344409 single base substitution C G intron_variant PBCA-DE 6 125369557 125369557 insertion of <=200bp - A downstream_gene_variant PBCA-DE 6 125369557 125369557 insertion of <=200bp - A intron_variant PBCA-DE 6 125373337 125373337 single base substitution A C intron_variant PBCA-DE 6 125373431 125373432 deletion of <=200bp TG - intron_variant PBCA-DE 6 125381503 125381504 deletion of <=200bp AC - intron_variant PBCA-DE 6 125411649 125411649 single base substitution C T 3_prime_UTR_variant PBCA-DE 6 125415570 125415570 insertion of <=200bp - ACACACACACACACAC downstream_gene_variant PBCA-DE 6 125415570 125415571 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 6 125417928 125417928 single base substitution T A downstream_gene_variant PRAD-CA 6 125305104 125305104 single base substitution C T intron_variant PRAD-CA 6 125305390 125305390 single base substitution C T intron_variant PRAD-CA 6 125338338 125338338 single base substitution T C intron_variant PRAD-CA 6 125369656 125369656 single base substitution A C downstream_gene_variant PRAD-CA 6 125369656 125369656 single base substitution A C intron_variant PRAD-CA 6 125404550 125404550 single base substitution A G 3_prime_UTR_variant PRAD-CA 6 125404550 125404550 single base substitution A G downstream_gene_variant PRAD-UK 6 125282202 125282202 single base substitution T A upstream_gene_variant PRAD-UK 6 125295094 125295094 single base substitution C G downstream_gene_variant PRAD-UK 6 125295094 125295094 single base substitution C G intron_variant PRAD-UK 6 125304775 125304775 single base substitution T C intron_variant PRAD-UK 6 125314529 125314529 single base substitution C A intron_variant PRAD-UK 6 125315227 125315227 single base substitution A C intron_variant PRAD-UK 6 125344273 125344273 single base substitution G T intron_variant PRAD-UK 6 125381883 125381883 single base substitution G A intron_variant PRAD-UK 6 125405774 125405774 single base substitution C T 3_prime_UTR_variant PRAD-UK 6 125405774 125405774 single base substitution C T downstream_gene_variant PRAD-UK 6 125406256 125406256 single base substitution A C 3_prime_UTR_variant PRAD-UK 6 125406256 125406256 single base substitution A C downstream_gene_variant PRAD-UK 6 125407915 125407915 single base substitution A T 3_prime_UTR_variant PRAD-UK 6 125407915 125407915 single base substitution A T downstream_gene_variant READ-US 6 125366410 125366410 single base substitution C A 3_prime_UTR_variant READ-US 6 125366410 125366410 single base substitution C A 5_prime_UTR_variant READ-US 6 125366410 125366410 single base substitution C A exon_variant READ-US 6 125366410 125366410 single base substitution C A missense_variant F20L 60C>A READ-US 6 125366410 125366410 single base substitution C A missense_variant F312L 936C>A READ-US 6 125366410 125366410 single base substitution C A missense_variant F77L 231C>A READ-US 6 125366410 125366410 single base substitution C A upstream_gene_variant READ-US 6 125402626 125402626 single base substitution G C 3_prime_UTR_variant READ-US 6 125402626 125402626 single base substitution G C downstream_gene_variant READ-US 6 125402626 125402626 single base substitution G C exon_variant READ-US 6 125402626 125402626 single base substitution G C missense_variant A154P 460G>C READ-US 6 125402626 125402626 single base substitution G C missense_variant A218P 652G>C READ-US 6 125402626 125402626 single base substitution G C missense_variant A275P 823G>C READ-US 6 125402626 125402626 single base substitution G C missense_variant A510P 1528G>C READ-US 6 125402626 125402626 single base substitution G C missense_variant A72P 214G>C RECA-EU 6 125280981 125280981 single base substitution A G upstream_gene_variant RECA-EU 6 125296831 125296831 single base substitution C T downstream_gene_variant RECA-EU 6 125296831 125296831 single base substitution C T intron_variant RECA-EU 6 125298483 125298483 single base substitution A G intron_variant RECA-EU 6 125316021 125316021 single base substitution T C intron_variant RECA-EU 6 125322680 125322680 single base substitution A C intron_variant RECA-EU 6 125329919 125329919 single base substitution T C exon_variant RECA-EU 6 125329919 125329919 single base substitution T C intron_variant RECA-EU 6 125337466 125337466 single base substitution A T intron_variant RECA-EU 6 125339399 125339399 single base substitution C G intron_variant RECA-EU 6 125348516 125348516 single base substitution G A intron_variant RECA-EU 6 125352931 125352931 single base substitution G T intron_variant RECA-EU 6 125354183 125354183 single base substitution A G intron_variant RECA-EU 6 125366227 125366227 single base substitution A G intron_variant RECA-EU 6 125366227 125366227 single base substitution A G upstream_gene_variant RECA-EU 6 125370981 125370981 single base substitution G T downstream_gene_variant RECA-EU 6 125370981 125370981 single base substitution G T intron_variant RECA-EU 6 125371195 125371195 single base substitution G A downstream_gene_variant RECA-EU 6 125371195 125371195 single base substitution G A intron_variant RECA-EU 6 125372097 125372097 single base substitution A T intron_variant RECA-EU 6 125375914 125375914 single base substitution C T intron_variant RECA-EU 6 125376617 125376617 single base substitution A T intron_variant RECA-EU 6 125378868 125378868 single base substitution T G intron_variant RECA-EU 6 125380637 125380637 single base substitution A G intron_variant RECA-EU 6 125386365 125386365 single base substitution A T intron_variant RECA-EU 6 125386976 125386976 single base substitution C A intron_variant RECA-EU 6 125389772 125389772 single base substitution A G intron_variant RECA-EU 6 125396146 125396146 single base substitution C T intron_variant RECA-EU 6 125396844 125396844 single base substitution G A intron_variant RECA-EU 6 125402901 125402901 single base substitution T A downstream_gene_variant RECA-EU 6 125402901 125402901 single base substitution T A intron_variant SKCA-BR 6 125279447 125279447 single base substitution G A upstream_gene_variant SKCA-BR 6 125279561 125279561 single base substitution A C upstream_gene_variant SKCA-BR 6 125281206 125281206 single base substitution G A upstream_gene_variant SKCA-BR 6 125283835 125283835 single base substitution G A missense_variant E49K 145G>A SKCA-BR 6 125283835 125283835 single base substitution G A upstream_gene_variant SKCA-BR 6 125284468 125284468 single base substitution G A exon_variant SKCA-BR 6 125284468 125284468 single base substitution G A missense_variant V25M 73G>A SKCA-BR 6 125284468 125284468 single base substitution G A missense_variant V260M 778G>A SKCA-BR 6 125286076 125286076 single base substitution C T intron_variant SKCA-BR 6 125290965 125290965 single base substitution G A intron_variant SKCA-BR 6 125290965 125290965 single base substitution G A upstream_gene_variant SKCA-BR 6 125291158 125291158 single base substitution C T intron_variant SKCA-BR 6 125291158 125291158 single base substitution C T upstream_gene_variant SKCA-BR 6 125292092 125292092 single base substitution G C intron_variant SKCA-BR 6 125292092 125292092 single base substitution G C upstream_gene_variant SKCA-BR 6 125293895 125293895 single base substitution C T downstream_gene_variant SKCA-BR 6 125293895 125293895 single base substitution C T intron_variant SKCA-BR 6 125294653 125294653 single base substitution G A downstream_gene_variant SKCA-BR 6 125294653 125294653 single base substitution G A intron_variant SKCA-BR 6 125295129 125295129 single base substitution G A downstream_gene_variant SKCA-BR 6 125295129 125295129 single base substitution G A intron_variant SKCA-BR 6 125296158 125296158 single base substitution C T downstream_gene_variant SKCA-BR 6 125296158 125296158 single base substitution C T intron_variant SKCA-BR 6 125296611 125296611 single base substitution C T downstream_gene_variant SKCA-BR 6 125296611 125296611 single base substitution C T intron_variant SKCA-BR 6 125297032 125297032 single base substitution T C downstream_gene_variant SKCA-BR 6 125297032 125297032 single base substitution T C intron_variant SKCA-BR 6 125297448 125297448 insertion of <=200bp - CCTTCCTTACA downstream_gene_variant SKCA-BR 6 125297448 125297448 insertion of <=200bp - CCTTCCTTACA intron_variant SKCA-BR 6 125297455 125297455 single base substitution C T downstream_gene_variant SKCA-BR 6 125297455 125297455 single base substitution C T intron_variant SKCA-BR 6 125298058 125298058 single base substitution G A intron_variant SKCA-BR 6 125298766 125298766 single base substitution G A intron_variant SKCA-BR 6 125300261 125300261 single base substitution C T intron_variant SKCA-BR 6 125300261 125300261 single base substitution C T upstream_gene_variant SKCA-BR 6 125303128 125303128 single base substitution C T intron_variant SKCA-BR 6 125303128 125303128 single base substitution C T upstream_gene_variant SKCA-BR 6 125305687 125305688 deletion of <=200bp CA - intron_variant SKCA-BR 6 125308753 125308753 single base substitution G A intron_variant SKCA-BR 6 125310203 125310203 insertion of <=200bp - ATTACCTTACCATTGGTAAGTAGCTTTC intron_variant SKCA-BR 6 125311053 125311053 single base substitution C T intron_variant SKCA-BR 6 125311471 125311471 single base substitution A C intron_variant SKCA-BR 6 125314739 125314739 single base substitution G A intron_variant SKCA-BR 6 125315756 125315756 single base substitution T G intron_variant SKCA-BR 6 125316079 125316079 single base substitution G A intron_variant SKCA-BR 6 125318155 125318155 single base substitution G A intron_variant SKCA-BR 6 125321422 125321422 single base substitution T A intron_variant SKCA-BR 6 125322856 125322856 single base substitution C T intron_variant SKCA-BR 6 125323806 125323806 single base substitution A G intron_variant SKCA-BR 6 125329150 125329150 single base substitution C T intron_variant SKCA-BR 6 125329150 125329150 single base substitution C T upstream_gene_variant SKCA-BR 6 125329917 125329917 single base substitution C T exon_variant SKCA-BR 6 125329917 125329917 single base substitution C T intron_variant SKCA-BR 6 125330394 125330394 single base substitution C T 5_prime_UTR_variant SKCA-BR 6 125330394 125330394 single base substitution C T exon_variant SKCA-BR 6 125330394 125330394 single base substitution C T intron_variant SKCA-BR 6 125331130 125331131 deletion of <=200bp TC - downstream_gene_variant SKCA-BR 6 125331130 125331131 deletion of <=200bp TC - intron_variant SKCA-BR 6 125331270 125331270 single base substitution C T downstream_gene_variant SKCA-BR 6 125331270 125331270 single base substitution C T intron_variant SKCA-BR 6 125331603 125331603 single base substitution C T downstream_gene_variant SKCA-BR 6 125331603 125331603 single base substitution C T intron_variant SKCA-BR 6 125332230 125332230 single base substitution G A downstream_gene_variant SKCA-BR 6 125332230 125332230 single base substitution G A intron_variant SKCA-BR 6 125332354 125332354 single base substitution G A downstream_gene_variant SKCA-BR 6 125332354 125332354 single base substitution G A intron_variant SKCA-BR 6 125332553 125332553 single base substitution G A downstream_gene_variant SKCA-BR 6 125332553 125332553 single base substitution G A intron_variant SKCA-BR 6 125332728 125332728 single base substitution G A downstream_gene_variant SKCA-BR 6 125332728 125332728 single base substitution G A intron_variant SKCA-BR 6 125333499 125333499 single base substitution G C downstream_gene_variant SKCA-BR 6 125333499 125333499 single base substitution G C intron_variant SKCA-BR 6 125340014 125340014 single base substitution C T intron_variant SKCA-BR 6 125340140 125340140 single base substitution C T intron_variant SKCA-BR 6 125340647 125340647 single base substitution C T intron_variant SKCA-BR 6 125341194 125341194 single base substitution C T intron_variant SKCA-BR 6 125344181 125344181 single base substitution G A intron_variant SKCA-BR 6 125345036 125345036 single base substitution G A intron_variant SKCA-BR 6 125345865 125345866 deletion of <=200bp CA - intron_variant SKCA-BR 6 125346510 125346510 single base substitution G A intron_variant SKCA-BR 6 125351181 125351181 single base substitution T G intron_variant SKCA-BR 6 125351410 125351410 single base substitution C T intron_variant SKCA-BR 6 125353018 125353018 single base substitution C T intron_variant SKCA-BR 6 125353921 125353921 single base substitution G A intron_variant SKCA-BR 6 125354768 125354768 single base substitution C T intron_variant SKCA-BR 6 125355163 125355163 single base substitution C T intron_variant SKCA-BR 6 125355164 125355164 single base substitution C T intron_variant SKCA-BR 6 125355909 125355909 single base substitution A C intron_variant SKCA-BR 6 125356871 125356871 single base substitution C T intron_variant SKCA-BR 6 125358641 125358641 single base substitution G A intron_variant SKCA-BR 6 125359120 125359120 single base substitution C T intron_variant SKCA-BR 6 125360136 125360136 single base substitution A C intron_variant SKCA-BR 6 125361215 125361215 single base substitution G T intron_variant SKCA-BR 6 125362611 125362611 single base substitution G A intron_variant SKCA-BR 6 125362611 125362611 single base substitution G A upstream_gene_variant SKCA-BR 6 125362831 125362831 single base substitution C T intron_variant SKCA-BR 6 125362831 125362831 single base substitution C T upstream_gene_variant SKCA-BR 6 125362967 125362967 single base substitution A G intron_variant SKCA-BR 6 125362967 125362967 single base substitution A G upstream_gene_variant SKCA-BR 6 125363648 125363648 single base substitution G A intron_variant SKCA-BR 6 125363648 125363648 single base substitution G A upstream_gene_variant SKCA-BR 6 125367176 125367176 single base substitution A T downstream_gene_variant SKCA-BR 6 125367176 125367176 single base substitution A T intron_variant SKCA-BR 6 125367176 125367176 single base substitution A T upstream_gene_variant SKCA-BR 6 125367876 125367876 single base substitution G A downstream_gene_variant SKCA-BR 6 125367876 125367876 single base substitution G A intron_variant SKCA-BR 6 125367876 125367876 single base substitution G A upstream_gene_variant SKCA-BR 6 125368091 125368091 single base substitution T C downstream_gene_variant SKCA-BR 6 125368091 125368091 single base substitution T C intron_variant SKCA-BR 6 125368091 125368091 single base substitution T C upstream_gene_variant SKCA-BR 6 125368170 125368170 single base substitution C T downstream_gene_variant SKCA-BR 6 125368170 125368170 single base substitution C T intron_variant SKCA-BR 6 125368170 125368170 single base substitution C T upstream_gene_variant SKCA-BR 6 125371019 125371019 single base substitution G A downstream_gene_variant SKCA-BR 6 125371019 125371019 single base substitution G A intron_variant SKCA-BR 6 125371487 125371487 single base substitution C T downstream_gene_variant SKCA-BR 6 125371487 125371487 single base substitution C T intron_variant SKCA-BR 6 125372911 125372911 single base substitution C T intron_variant SKCA-BR 6 125376102 125376102 single base substitution A C intron_variant SKCA-BR 6 125379592 125379592 single base substitution G T intron_variant SKCA-BR 6 125382855 125382855 single base substitution C T intron_variant SKCA-BR 6 125385245 125385245 single base substitution C T intron_variant SKCA-BR 6 125385255 125385255 single base substitution C T intron_variant SKCA-BR 6 125386016 125386016 single base substitution A C intron_variant SKCA-BR 6 125389699 125389699 single base substitution C T intron_variant SKCA-BR 6 125390693 125390693 single base substitution G A intron_variant SKCA-BR 6 125390717 125390717 single base substitution T C intron_variant SKCA-BR 6 125391200 125391200 single base substitution C T intron_variant SKCA-BR 6 125391730 125391730 single base substitution C T intron_variant SKCA-BR 6 125391899 125391899 single base substitution C T intron_variant SKCA-BR 6 125391924 125391924 single base substitution G A intron_variant SKCA-BR 6 125393199 125393199 single base substitution A G intron_variant SKCA-BR 6 125395372 125395372 single base substitution T C intron_variant SKCA-BR 6 125395443 125395455 deletion of <=200bp GTAGATAGATAGA - intron_variant SKCA-BR 6 125395612 125395612 single base substitution C T intron_variant SKCA-BR 6 125396547 125396547 single base substitution G A intron_variant SKCA-BR 6 125396612 125396612 single base substitution G A intron_variant SKCA-BR 6 125397634 125397634 single base substitution A G intron_variant SKCA-BR 6 125398132 125398132 single base substitution C T downstream_gene_variant SKCA-BR 6 125398132 125398132 single base substitution C T intron_variant SKCA-BR 6 125399611 125399611 single base substitution C T downstream_gene_variant SKCA-BR 6 125399611 125399611 single base substitution C T intron_variant SKCA-BR 6 125399837 125399837 single base substitution C T downstream_gene_variant SKCA-BR 6 125399837 125399837 single base substitution C T intron_variant SKCA-BR 6 125400829 125400829 single base substitution C T downstream_gene_variant SKCA-BR 6 125400829 125400829 single base substitution C T intron_variant SKCA-BR 6 125400929 125400929 single base substitution G A downstream_gene_variant SKCA-BR 6 125400929 125400929 single base substitution G A intron_variant SKCA-BR 6 125403257 125403257 single base substitution G A intron_variant SKCA-BR 6 125403459 125403459 single base substitution G A intron_variant SKCA-BR 6 125403550 125403550 single base substitution G A intron_variant SKCA-BR 6 125405141 125405141 single base substitution C T 3_prime_UTR_variant SKCA-BR 6 125405141 125405141 single base substitution C T downstream_gene_variant SKCA-BR 6 125410400 125410400 single base substitution C T 3_prime_UTR_variant SKCA-BR 6 125412445 125412445 single base substitution A G 3_prime_UTR_variant SKCA-BR 6 125415569 125415569 insertion of <=200bp - GACACACACACACAC downstream_gene_variant SKCA-BR 6 125415859 125415859 single base substitution A T downstream_gene_variant SKCA-BR 6 125416494 125416494 single base substitution T C downstream_gene_variant SKCA-BR 6 125416642 125416642 single base substitution G A downstream_gene_variant SKCA-BR 6 125417402 125417402 single base substitution C T downstream_gene_variant SKCA-BR 6 125418693 125418693 single base substitution T G downstream_gene_variant SKCM-US 6 125379091 125379091 single base substitution C T 3_prime_UTR_variant SKCM-US 6 125379091 125379091 single base substitution C T 5_prime_UTR_variant SKCM-US 6 125379091 125379091 single base substitution C T exon_variant SKCM-US 6 125379091 125379091 single base substitution C T stop_gained Q139* 415C>T SKCM-US 6 125379091 125379091 single base substitution C T stop_gained Q18* 52C>T SKCM-US 6 125379091 125379091 single base substitution C T stop_gained Q374* 1120C>T SKCM-US 6 125379091 125379091 single base substitution C T stop_gained Q82* 244C>T SKCM-US 6 125397890 125397890 single base substitution C T 3_prime_UTR_variant SKCM-US 6 125397890 125397890 single base substitution C T exon_variant SKCM-US 6 125397890 125397890 single base substitution C T missense_variant R101C 301C>T SKCM-US 6 125397890 125397890 single base substitution C T missense_variant R165C 493C>T SKCM-US 6 125397890 125397890 single base substitution C T missense_variant R19C 55C>T SKCM-US 6 125397890 125397890 single base substitution C T missense_variant R222C 664C>T SKCM-US 6 125397890 125397890 single base substitution C T missense_variant R457C 1369C>T SKCM-US 6 125397950 125397950 single base substitution C T 3_prime_UTR_variant SKCM-US 6 125397950 125397950 single base substitution C T exon_variant SKCM-US 6 125397950 125397950 single base substitution C T missense_variant R121C 361C>T SKCM-US 6 125397950 125397950 single base substitution C T missense_variant R185C 553C>T SKCM-US 6 125397950 125397950 single base substitution C T missense_variant R242C 724C>T SKCM-US 6 125397950 125397950 single base substitution C T missense_variant R39C 115C>T SKCM-US 6 125397950 125397950 single base substitution C T missense_variant R477C 1429C>T SKCM-US 6 125397960 125397960 single base substitution C T 3_prime_UTR_variant SKCM-US 6 125397960 125397960 single base substitution C T exon_variant SKCM-US 6 125397960 125397960 single base substitution C T missense_variant P124L 371C>T SKCM-US 6 125397960 125397960 single base substitution C T missense_variant P188L 563C>T SKCM-US 6 125397960 125397960 single base substitution C T missense_variant P245L 734C>T SKCM-US 6 125397960 125397960 single base substitution C T missense_variant P42L 125C>T SKCM-US 6 125397960 125397960 single base substitution C T missense_variant P480L 1439C>T SKCM-US 6 125397968 125397968 single base substitution C T 3_prime_UTR_variant SKCM-US 6 125397968 125397968 single base substitution C T exon_variant SKCM-US 6 125397968 125397968 single base substitution C T missense_variant P127S 379C>T SKCM-US 6 125397968 125397968 single base substitution C T missense_variant P191S 571C>T SKCM-US 6 125397968 125397968 single base substitution C T missense_variant P248S 742C>T SKCM-US 6 125397968 125397968 single base substitution C T missense_variant P45S 133C>T SKCM-US 6 125397968 125397968 single base substitution C T missense_variant P483S 1447C>T SKCM-US 6 125397990 125397990 single base substitution G A 3_prime_UTR_variant SKCM-US 6 125397990 125397990 single base substitution G A exon_variant SKCM-US 6 125397990 125397990 single base substitution G A missense_variant R134Q 401G>A SKCM-US 6 125397990 125397990 single base substitution G A missense_variant R198Q 593G>A SKCM-US 6 125397990 125397990 single base substitution G A missense_variant R255Q 764G>A SKCM-US 6 125397990 125397990 single base substitution G A missense_variant R490Q 1469G>A SKCM-US 6 125397990 125397990 single base substitution G A missense_variant R52Q 155G>A SKCM-US 6 125404012 125404012 single base substitution T A missense_variant F266Y 797T>A SKCM-US 6 125404012 125404012 single base substitution T A missense_variant L164I 490T>A SKCM-US 6 125404012 125404012 single base substitution T A missense_variant L285I 853T>A SKCM-US 6 125404012 125404012 single base substitution T A missense_variant L520I 1558T>A SKCM-US 6 125404012 125404012 single base substitution T A missense_variant L82I 244T>A SKCM-US 6 125404012 125404012 single base substitution T A splice_region_variant SKCM-US 6 125404058 125404058 single base substitution G A 3_prime_UTR_variant SKCM-US 6 125404058 125404058 single base substitution G A exon_variant SKCM-US 6 125404058 125404058 single base substitution G A missense_variant R179Q 536G>A SKCM-US 6 125404058 125404058 single base substitution G A missense_variant R300Q 899G>A SKCM-US 6 125404058 125404058 single base substitution G A missense_variant R535Q 1604G>A SKCM-US 6 125404058 125404058 single base substitution G A missense_variant R97Q 290G>A STAD-US 6 125366443 125366443 single base substitution G A 3_prime_UTR_variant STAD-US 6 125366443 125366443 single base substitution G A 5_prime_UTR_variant STAD-US 6 125366443 125366443 single base substitution G A exon_variant STAD-US 6 125366443 125366443 single base substitution G A synonymous_variant T31T 93G>A STAD-US 6 125366443 125366443 single base substitution G A synonymous_variant T323T 969G>A STAD-US 6 125366443 125366443 single base substitution G A synonymous_variant T88T 264G>A STAD-US 6 125366443 125366443 single base substitution G A upstream_gene_variant STAD-US 6 125366470 125366470 single base substitution C G 3_prime_UTR_variant STAD-US 6 125366470 125366470 single base substitution C G 5_prime_UTR_variant STAD-US 6 125366470 125366470 single base substitution C G exon_variant STAD-US 6 125366470 125366470 single base substitution C G stop_gained Y332* 996C>G STAD-US 6 125366470 125366470 single base substitution C G stop_gained Y40* 120C>G STAD-US 6 125366470 125366470 single base substitution C G stop_gained Y97* 291C>G STAD-US 6 125366470 125366470 single base substitution C G upstream_gene_variant STAD-US 6 125379190 125379190 single base substitution C T 3_prime_UTR_variant STAD-US 6 125379190 125379190 single base substitution C T 5_prime_UTR_variant STAD-US 6 125379190 125379190 single base substitution C T exon_variant STAD-US 6 125379190 125379190 single base substitution C T missense_variant R115C 343C>T STAD-US 6 125379190 125379190 single base substitution C T missense_variant R172C 514C>T STAD-US 6 125379190 125379190 single base substitution C T missense_variant R407C 1219C>T STAD-US 6 125379190 125379190 single base substitution C T missense_variant R51C 151C>T STAD-US 6 125397843 125397843 single base substitution G T 3_prime_UTR_variant STAD-US 6 125397843 125397843 single base substitution G T exon_variant STAD-US 6 125397843 125397843 single base substitution G T missense_variant C149F 446G>T STAD-US 6 125397843 125397843 single base substitution G T missense_variant C206F 617G>T STAD-US 6 125397843 125397843 single base substitution G T missense_variant C3F 8G>T STAD-US 6 125397843 125397843 single base substitution G T missense_variant C441F 1322G>T STAD-US 6 125397843 125397843 single base substitution G T missense_variant C85F 254G>T STAD-US 6 125397902 125397902 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 6 125397902 125397902 deletion of <=200bp T - exon_variant STAD-US 6 125397902 125397902 deletion of <=200bp T - frameshift_variant F105 STAD-US 6 125397902 125397902 deletion of <=200bp T - frameshift_variant F169 STAD-US 6 125397902 125397902 deletion of <=200bp T - frameshift_variant F226 STAD-US 6 125397902 125397902 deletion of <=200bp T - frameshift_variant F23 STAD-US 6 125397902 125397902 deletion of <=200bp T - frameshift_variant F461 STAD-US 6 125397989 125397989 single base substitution C T 3_prime_UTR_variant STAD-US 6 125397989 125397989 single base substitution C T exon_variant STAD-US 6 125397989 125397989 single base substitution C T stop_gained R134* 400C>T STAD-US 6 125397989 125397989 single base substitution C T stop_gained R198* 592C>T STAD-US 6 125397989 125397989 single base substitution C T stop_gained R255* 763C>T STAD-US 6 125397989 125397989 single base substitution C T stop_gained R490* 1468C>T STAD-US 6 125397989 125397989 single base substitution C T stop_gained R52* 154C>T STAD-US 6 125402611 125402611 single base substitution A G 3_prime_UTR_variant STAD-US 6 125402611 125402611 single base substitution A G downstream_gene_variant STAD-US 6 125402611 125402611 single base substitution A G exon_variant STAD-US 6 125402611 125402611 single base substitution A G missense_variant M149V 445A>G STAD-US 6 125402611 125402611 single base substitution A G missense_variant M213V 637A>G STAD-US 6 125402611 125402611 single base substitution A G missense_variant M270V 808A>G STAD-US 6 125402611 125402611 single base substitution A G missense_variant M505V 1513A>G STAD-US 6 125402611 125402611 single base substitution A G missense_variant M67V 199A>G STAD-US 6 125402621 125402621 single base substitution G A 3_prime_UTR_variant STAD-US 6 125402621 125402621 single base substitution G A downstream_gene_variant STAD-US 6 125402621 125402621 single base substitution G A exon_variant STAD-US 6 125402621 125402621 single base substitution G A missense_variant G152E 455G>A STAD-US 6 125402621 125402621 single base substitution G A missense_variant G216E 647G>A STAD-US 6 125402621 125402621 single base substitution G A missense_variant G273E 818G>A STAD-US 6 125402621 125402621 single base substitution G A missense_variant G508E 1523G>A STAD-US 6 125402621 125402621 single base substitution G A missense_variant G70E 209G>A STAD-US 6 125404041 125404041 insertion of <=200bp - A 3_prime_UTR_variant STAD-US 6 125404041 125404041 insertion of <=200bp - A exon_variant STAD-US 6 125404041 125404041 insertion of <=200bp - A frameshift_variant *276I? STAD-US 6 125404041 125404041 insertion of <=200bp - A frameshift_variant C173*? STAD-US 6 125404041 125404041 insertion of <=200bp - A frameshift_variant C294*? STAD-US 6 125404041 125404041 insertion of <=200bp - A frameshift_variant C529*? STAD-US 6 125404041 125404041 insertion of <=200bp - A frameshift_variant C91*? STAD-US 6 125404042 125404042 insertion of <=200bp - A 3_prime_UTR_variant STAD-US 6 125404042 125404042 insertion of <=200bp - A exon_variant STAD-US 6 125404042 125404042 insertion of <=200bp - A frameshift_variant *276*? STAD-US 6 125404042 125404042 insertion of <=200bp - A frameshift_variant K174K? STAD-US 6 125404042 125404042 insertion of <=200bp - A frameshift_variant K295K? STAD-US 6 125404042 125404042 insertion of <=200bp - A frameshift_variant K530K? STAD-US 6 125404042 125404042 insertion of <=200bp - A frameshift_variant K92K? UCEC-US 6 125366442 125366442 single base substitution C T 3_prime_UTR_variant UCEC-US 6 125366442 125366442 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 6 125366442 125366442 single base substitution C T exon_variant UCEC-US 6 125366442 125366442 single base substitution C T missense_variant T31M 92C>T UCEC-US 6 125366442 125366442 single base substitution C T missense_variant T323M 968C>T UCEC-US 6 125366442 125366442 single base substitution C T missense_variant T88M 263C>T UCEC-US 6 125366442 125366442 single base substitution C T upstream_gene_variant UCEC-US 6 125366447 125366447 single base substitution G C 3_prime_UTR_variant UCEC-US 6 125366447 125366447 single base substitution G C 5_prime_UTR_variant UCEC-US 6 125366447 125366447 single base substitution G C exon_variant UCEC-US 6 125366447 125366447 single base substitution G C missense_variant E325Q 973G>C UCEC-US 6 125366447 125366447 single base substitution G C missense_variant E33Q 97G>C UCEC-US 6 125366447 125366447 single base substitution G C missense_variant E90Q 268G>C UCEC-US 6 125366447 125366447 single base substitution G C upstream_gene_variant UCEC-US 6 125379111 125379111 single base substitution C T 3_prime_UTR_variant UCEC-US 6 125379111 125379111 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 6 125379111 125379111 single base substitution C T exon_variant UCEC-US 6 125379111 125379111 single base substitution C T synonymous_variant F145F 435C>T UCEC-US 6 125379111 125379111 single base substitution C T synonymous_variant F24F 72C>T UCEC-US 6 125379111 125379111 single base substitution C T synonymous_variant F380F 1140C>T UCEC-US 6 125379111 125379111 single base substitution C T synonymous_variant F88F 264C>T UCEC-US 6 125402605 125402605 single base substitution C A 3_prime_UTR_variant UCEC-US 6 125402605 125402605 single base substitution C A downstream_gene_variant UCEC-US 6 125402605 125402605 single base substitution C A exon_variant UCEC-US 6 125402605 125402605 single base substitution C A missense_variant L147I 439C>A UCEC-US 6 125402605 125402605 single base substitution C A missense_variant L211I 631C>A UCEC-US 6 125402605 125402605 single base substitution C A missense_variant L268I 802C>A UCEC-US 6 125402605 125402605 single base substitution C A missense_variant L503I 1507C>A UCEC-US 6 125402605 125402605 single base substitution C A missense_variant L65I 193C>A UCEC-US 6 125404013 125404013 single base substitution T G 3_prime_UTR_variant UCEC-US 6 125404013 125404013 single base substitution T G exon_variant UCEC-US 6 125404013 125404013 single base substitution T G missense_variant F266L 798T>G UCEC-US 6 125404013 125404013 single base substitution T G stop_gained L164* 491T>G UCEC-US 6 125404013 125404013 single base substitution T G stop_gained L285* 854T>G UCEC-US 6 125404013 125404013 single base substitution T G stop_gained L520* 1559T>G UCEC-US 6 125404013 125404013 single base substitution T G stop_gained L82* 245T>G UCEC-US 6 125404022 125404022 single base substitution T G 3_prime_UTR_variant UCEC-US 6 125404022 125404022 single base substitution T G exon_variant UCEC-US 6 125404022 125404022 single base substitution T G missense_variant F167C 500T>G UCEC-US 6 125404022 125404022 single base substitution T G missense_variant F288C 863T>G UCEC-US 6 125404022 125404022 single base substitution T G missense_variant F523C 1568T>G UCEC-US 6 125404022 125404022 single base substitution T G missense_variant F85C 254T>G UCEC-US 6 125404022 125404022 single base substitution T G missense_variant I269M 807T>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand RK004_C01 COSM1634468 c.139A>G p.I47V Substitution - Missense 6:125045343-125045343 + OSCC-GB_00690111 COSM4887111 c.920C>A p.T307K Substitution - Missense 6:125045248-125045248 + TCGA-D7-5577-01 COSM3858019 c.446G>T p.C149F Substitution - Missense 6:125076697-125076697 + TCGA-FW-A3R5-06 COSM3920671 c.563C>T p.P188L Substitution - Missense 6:125076814-125076814 + KM12 COSM3171598 c.1323C>T p.C441C Substitution - coding silent 6:125076698-125076698 + RK004_C01 COSM1634469 c.1015A>G p.I339V Substitution - Missense 6:125045343-125045343 + TCGA-DA-A1HV-06 COSM3620142 c.244C>T p.Q82* Substitution - Nonsense 6:125057945-125057945 + TCGA-BR-A4QI-01 COSM3858026 c.647G>A p.G216E Substitution - Missense 6:125081475-125081475 + CSCC-49-T COSM1697874 c.1429C>T p.R477C Substitution - Missense 6:125076804-125076804 + YUGISMO COSM1697873 c.553C>T p.R185C Substitution - Missense 6:125076804-125076804 + TCGA-12-0615 COSM2153477 c.1125C>T p.C375C Substitution - coding silent 6:125057950-125057950 + HCC58 COSM1620851 c.1034C>T p.P345L Substitution - Missense 6:125045362-125045362 + PT49 COSM5935172 c.562C>T p.P188S Substitution - Missense 6:125076813-125076813 + T3099 COSM4722149 c.1492T>C p.L498L Substitution - coding silent 6:125081444-125081444 + T207 COSM4722145 c.465delT p.C157fs*37 Deletion - Frameshift 6:125076716-125076716 + 2521252 COSM5888932 c.1425A>T p.K475N Substitution - Missense 6:125076800-125076800 + L13 COSM5369116 c.1271C>A p.P424Q Substitution - Missense 6:125058096-125058096 + TCGA-CU-A0YO-01 COSM1133749 c.1013G>A p.R338H Substitution - Missense 6:125045341-125045341 + T3225 COSM4722143 c.46G>T p.E16* Substitution - Nonsense 6:125045250-125045250 + CSCC-27-T COSM4500291 c.1437C>T p.L479L Substitution - coding silent 6:125076812-125076812 + TCGA-DD-A113-01 COSM4925264 c.659G>T p.G220V Substitution - Missense 6:125081487-125081487 + S02291 COSM5687078 c.682G>A p.E228K Substitution - Missense 6:125082451-125082451 + I2L-P9-Tumor-Organoid COSM5357846 c.1362G>C p.E454D Substitution - Missense 6:125076737-125076737 + 1_RESISTANT COSM1720279 c.1604G>A p.R535Q Substitution - Missense 6:125082912-125082912 + TCGA-B5-A0JV-01 COSM1072889 c.795-1G>T p.? Unknown 6:125082863-125082863 + TCGA-BR-6707-01 COSM3858014 c.120C>G p.Y40* Substitution - Nonsense 6:125045324-125045324 + PD5942a COSM1595821 c.1140C>T p.F380F Substitution - coding silent 6:125057965-125057965 + TCGA-DD-A113-01 COSM4925265 c.1535G>T p.G512V Substitution - Missense 6:125081487-125081487 + C135 COSM4618553 c.150C>T p.S50S Substitution - coding silent 6:125045354-125045354 + TCGA-EE-A3AB-06 COSM3620149 c.1558T>A p.L520I Substitution - Missense 6:125082866-125082866 + HCC58T COSM1620850 c.158C>T p.P53L Substitution - Missense 6:125045362-125045362 + 051 COSM145878 c.554G>A p.R185H Substitution - Missense 6:125076805-125076805 + YUPROST COSM1697874 c.1429C>T p.R477C Substitution - Missense 6:125076804-125076804 + TCGA-EE-A3JD-06 COSM1697873 c.553C>T p.R185C Substitution - Missense 6:125076804-125076804 + TCGA-EE-A2GC-06 COSM1697873 c.553C>T p.R185C Substitution - Missense 6:125076804-125076804 + ESO-682 COSM1264390 c.1369C>T p.R457C Substitution - Missense 6:125076744-125076744 + TCGA-EE-A17X-06 COSM1720279 c.1604G>A p.R535Q Substitution - Missense 6:125082912-125082912 + PD18749a COSM5780572 c.406-7G>C p.? Unknown 6:125076650-125076650 + TCGA-D1-A17R-01 COSM1154557 c.1504C>T p.P502S Substitution - Missense 6:125081456-125081456 + I2L-P9-Tumor-Organoid COSM5357845 c.486G>C p.E162D Substitution - Missense 6:125076737-125076737 + BN03T COSM1620847 c.534C>T p.A178A Substitution - coding silent 6:124963078-124963078 + EGC3 COSM1264389 c.493C>T p.R165C Substitution - Missense 6:125076744-125076744 + SNU-C4 COSM4654032 c.231C>A p.S77R Substitution - Missense 6:125045435-125045435 + TCGA-F5-6814-01 COSM3429954 c.60C>A p.F20L Substitution - Missense 6:125045264-125045264 + TCGA-EE-A2GR-06 COSM1264390 c.1369C>T p.R457C Substitution - Missense 6:125076744-125076744 + Gp5D COSM3171590 c.1167T>C p.P389P Substitution - coding silent 6:125057992-125057992 + TCGA-B6-A0X4-01 COSM1487193 c.1378C>T p.R460* Substitution - Nonsense 6:125076753-125076753 + TCGA-DA-A1HV-06 COSM3620143 c.1120C>T p.Q374* Substitution - Nonsense 6:125057945-125057945 + ESO-682 COSM1264389 c.493C>T p.R165C Substitution - Missense 6:125076744-125076744 + EGC3 COSM1264390 c.1369C>T p.R457C Substitution - Missense 6:125076744-125076744 + YUAKER COSM1697871 c.394C>T p.P132S Substitution - Missense 6:125058095-125058095 + S0078 COSM5884290 c.1497C>A p.F499L Substitution - Missense 6:125081449-125081449 + TCGA-12-0615 COSM2153476 c.249C>T p.C83C Substitution - coding silent 6:125057950-125057950 + CSCC-15-T COSM3171608 c.678C>T p.I226I Substitution - coding silent 6:125081506-125081506 + HCC143T COSM1620848 c.83A>G p.Y28C Substitution - Missense 6:125045287-125045287 + UM-SCC-47 COSM4600263 c.767T>C p.V256A Substitution - Missense 6:124963311-124963311 + YUWAND COSM1697876 c.1469G>A p.R490Q Substitution - Missense 6:125076844-125076844 + SNU-C4 COSM4654033 c.1107C>A p.S369R Substitution - Missense 6:125045435-125045435 + TCGA-BS-A0UF-01 COSM1072886 c.264C>T p.F88F Substitution - coding silent 6:125057965-125057965 + I2L-P5-Tumor-Organoid COSM5357649 c.1610G>A p.R537Q Substitution - Missense 6:125082918-125082918 + TCGA-B5-A11R-01 COSM1072885 c.97G>C p.E33Q Substitution - Missense 6:125045301-125045301 + TCGA-CZ-4854-01 COSM3366283 c.894C>G p.G298G Substitution - coding silent 6:125045222-125045222 + TCGA-BR-4184-01 COSM3858017 c.1219C>T p.R407C Substitution - Missense 6:125058044-125058044 + YULAN COSM1697873 c.553C>T p.R185C Substitution - Missense 6:125076804-125076804 + TCGA-CU-A0YO-01 COSM421087 c.137G>A p.R46H Substitution - Missense 6:125045341-125045341 + TCGA-D7-5577-01 COSM3858020 c.1322G>T p.C441F Substitution - Missense 6:125076697-125076697 + TCGA-12-0615-01 COSM2153477 c.1125C>T p.C375C Substitution - coding silent 6:125057950-125057950 + ESCC_103 COSM5637698 c.693C>G p.P231P Substitution - coding silent 6:124963237-124963237 + TCGA-A5-A0GP-01 COSM1072890 c.798T>G p.F266L Substitution - Missense 6:125082867-125082867 + T3099 COSM4722148 c.616T>C p.L206L Substitution - coding silent 6:125081444-125081444 + TCGA-D9-A1JW-06 COSM1697875 c.593G>A p.R198Q Substitution - Missense 6:125076844-125076844 + TCGA-B6-A0X4-01 COSM450434 c.502C>T p.R168* Substitution - Nonsense 6:125076753-125076753 + TCGA-EE-A29M-06 COSM1697874 c.1429C>T p.R477C Substitution - Missense 6:125076804-125076804 + TCGA-D1-A17R-01 COSM1072887 c.628C>T p.P210S Substitution - Missense 6:125081456-125081456 + TCGA-BR-A4QI-01 COSM3858027 c.1523G>A p.G508E Substitution - Missense 6:125081475-125081475 + XPA24PT COSM1580142 c.458A>G p.N153S Substitution - Missense 6:125076709-125076709 + TCGA-JW-A5VJ-01 COSM4818512 c.401G>A p.C134Y Substitution - Missense 6:125058102-125058102 + pfg212T COSM4761038 c.842C>T p.A281V Substitution - Missense 6:124963386-124963386 + AOCS-141-3-2 COSM4139084 c.76G>A p.V26I Substitution - Missense 6:125045280-125045280 + TCGA-B0-5098-01 COSM1496206 c.426A>G p.E142E Substitution - coding silent 6:125076677-125076677 + TCGA-GM-A2DH-01 COSM3828966 c.1141G>T p.V381F Substitution - Missense 6:125057966-125057966 + pfg043T COSM4761048 c.728A>C p.N243T Substitution - Missense 6:125082497-125082497 + 1_PRE-TREATMENT COSM1720279 c.1604G>A p.R535Q Substitution - Missense 6:125082912-125082912 + YUKAT COSM5404288 c.488G>A p.R163K Substitution - Missense 6:125076739-125076739 + TCGA-D9-A1JW-06 COSM1697876 c.1469G>A p.R490Q Substitution - Missense 6:125076844-125076844 + TCGA-B5-A0JY-01 COSM1072888 c.631C>A p.L211I Substitution - Missense 6:125081459-125081459 + TCGA-CZ-4854-01 COSM3366282 c.18C>G p.G6G Substitution - coding silent 6:125045222-125045222 + TCGA-EE-A3AB-06 COSM3620148 c.797T>A p.F266Y Substitution - Missense 6:125082866-125082866 + AOCS-141-3-2 COSM4139085 c.952G>A p.V318I Substitution - Missense 6:125045280-125045280 + BK0037 COSM421087 c.137G>A p.R46H Substitution - Missense 6:125045341-125045341 + TCGA-12-0615-01 COSM2153476 c.249C>T p.C83C Substitution - coding silent 6:125057950-125057950 + TCGA-B0-5098-01 COSM1496207 c.1302A>G p.E434E Substitution - coding silent 6:125076677-125076677 + PD5942a COSM1072886 c.264C>T p.F88F Substitution - coding silent 6:125057965-125057965 + TCGA-BR-7901-01 COSM3171605 c.1468C>T p.R490* Substitution - Nonsense 6:125076843-125076843 + TCGA-F5-6814-01 COSM3429955 c.936C>A p.F312L Substitution - Missense 6:125045264-125045264 + YUAKER COSM1697869 c.97G>A p.E33K Substitution - Missense 6:125045301-125045301 + 051-0099-05TD COSM145878 c.554G>A p.R185H Substitution - Missense 6:125076805-125076805 + YUWAND COSM1697875 c.593G>A p.R198Q Substitution - Missense 6:125076844-125076844 + C086 COSM5538298 c.1379G>A p.R460Q Substitution - Missense 6:125076754-125076754 + YUAKER COSM1697872 c.1270C>T p.P424S Substitution - Missense 6:125058095-125058095 + T3225 COSM4722144 c.922G>T p.E308* Substitution - Nonsense 6:125045250-125045250 + YUAKER COSM1697870 c.973G>A p.E325K Substitution - Missense 6:125045301-125045301 + Pat_24_A COSM5869232 c.445G>A p.V149M Substitution - Missense 6:124962989-124962989 + TCGA-AC-A23H-01 COSM3828963 c.67G>A p.E23K Substitution - Missense 6:125045271-125045271 + TCGA-BR-6707-01 COSM3858015 c.996C>G p.Y332* Substitution - Nonsense 6:125045324-125045324 + 61 COSM5737751 c.463A>G p.N155D Substitution - Missense 6:125076714-125076714 + TCGA-AG-3592-01 COSM3429957 c.1528G>C p.A510P Substitution - Missense 6:125081480-125081480 + TCGA-AC-A23H-01 COSM3828964 c.943G>A p.E315K Substitution - Missense 6:125045271-125045271 + Pat_53_B COSM1697874 c.1429C>T p.R477C Substitution - Missense 6:125076804-125076804 + CSCC-49-T COSM1697873 c.553C>T p.R185C Substitution - Missense 6:125076804-125076804 + YUGISMO COSM1697874 c.1429C>T p.R477C Substitution - Missense 6:125076804-125076804 + TCGA-AG-3592-01 COSM3429956 c.652G>C p.A218P Substitution - Missense 6:125081480-125081480 + ESCC_96 COSM5637698 c.693C>G p.P231P Substitution - coding silent 6:124963237-124963237 + BN03 COSM1620847 c.534C>T p.A178A Substitution - coding silent 6:124963078-124963078 + TCGA-BS-A0UF-01 COSM1595821 c.1140C>T p.F380F Substitution - coding silent 6:125057965-125057965 + XPA24PT COSM1580143 c.1334A>G p.N445S Substitution - Missense 6:125076709-125076709 + TCGA-AP-A0LM-01 COSM1072884 c.92C>T p.T31M Substitution - Missense 6:125045296-125045296 + TCGA-BR-7901-01 COSM203193 c.592C>T p.R198* Substitution - Nonsense 6:125076843-125076843 + TCGA-BR-4184-01 COSM3858016 c.343C>T p.R115C Substitution - Missense 6:125058044-125058044 + S00946 COSM314853 c.3G>T p.M1I Substitution - Missense 6:125009279-125009279 + OSCC-GB_00690111 COSM4887110 c.44C>A p.T15K Substitution - Missense 6:125045248-125045248 + sysucc-1339T COSM5483258 c.1603C>T p.R535* Substitution - Nonsense 6:125082911-125082911 + TCGA-A5-A0GP-01 COSM1595819 c.1559T>G p.L520* Substitution - Nonsense 6:125082867-125082867 + TCGA-EE-A2GC-06 COSM1697874 c.1429C>T p.R477C Substitution - Missense 6:125076804-125076804 + KM12 COSM3171597 c.447C>T p.C149C Substitution - coding silent 6:125076698-125076698 + HCC143T COSM1620849 c.959A>G p.Y320C Substitution - Missense 6:125045287-125045287 + HCC58 COSM1620850 c.158C>T p.P53L Substitution - Missense 6:125045362-125045362 + TCGA-AX-A0J0-01 COSM1595818 c.1568T>G p.F523C Substitution - Missense 6:125082876-125082876 + 61 COSM5737752 c.1339A>G p.N447D Substitution - Missense 6:125076714-125076714 + TCGA-EE-A3JD-06 COSM1697874 c.1429C>T p.R477C Substitution - Missense 6:125076804-125076804 + I2L-P19Ta-Tumor-Organoid COSM5357344 c.253G>A p.A85T Substitution - Missense 6:124962797-124962797 + TCGA-EE-A2GR-06 COSM1264389 c.493C>T p.R165C Substitution - Missense 6:125076744-125076744 + C086 COSM5538300 c.329G>A p.G110E Substitution - Missense 6:125058030-125058030 + TCGA-DS-A0VL-01 COSM4842984 c.531C>T p.P177P Substitution - coding silent 6:124963075-124963075 + TCGA-BF-A1PU-01 COSM4399690 c.1447C>T p.P483S Substitution - Missense 6:125076822-125076822 + CML030T COSM5802879 c.1351C>T p.R451* Substitution - Nonsense 6:125076726-125076726 + TCGA-JW-A5VJ-01 COSM4818513 c.1277G>A p.C426Y Substitution - Missense 6:125058102-125058102 + TCGA-FW-A3R5-06 COSM3920672 c.1439C>T p.P480L Substitution - Missense 6:125076814-125076814 + TCGA-AP-A0LM-01 COSM1595823 c.968C>T p.T323M Substitution - Missense 6:125045296-125045296 + CSCC-15-T COSM3171609 c.1554C>T p.I518I Substitution - coding silent 6:125081506-125081506 + C086 COSM5538301 c.1205G>A p.G402E Substitution - Missense 6:125058030-125058030 + T3090 COSM4722151 c.826_827insA p.*276* Substitution - coding silent 6:125082895-125082896 + HCC143 COSM1620849 c.959A>G p.Y320C Substitution - Missense 6:125045287-125045287 + 1_PRE-TREATMENT COSM1720278 c.349C>T p.R117* Substitution - Nonsense 6:124962893-124962893 + 1_RESISTANT COSM1720278 c.349C>T p.R117* Substitution - Nonsense 6:124962893-124962893 + HCC58T COSM1620851 c.1034C>T p.P345L Substitution - Missense 6:125045362-125045362 + BK0037 COSM1133749 c.1013G>A p.R338H Substitution - Missense 6:125045341-125045341 + YULOCUS COSM5404286 c.1285C>T p.H429Y Substitution - Missense 6:125076660-125076660 + TCGA-B5-A11R-01 COSM1595822 c.973G>C p.E325Q Substitution - Missense 6:125045301-125045301 + TCGA-BR-6802-01 COSM3858012 c.93G>A p.T31T Substitution - coding silent 6:125045297-125045297 + HCC143 COSM1620848 c.83A>G p.Y28C Substitution - Missense 6:125045287-125045287 + S0078 COSM5884289 c.621C>A p.F207L Substitution - Missense 6:125081449-125081449 + Gp5D COSM3171589 c.291T>C p.P97P Substitution - coding silent 6:125057992-125057992 + CSCC-27-T COSM4500290 c.561C>T p.L187L Substitution - coding silent 6:125076812-125076812 + TCGA-B5-A0JY-01 COSM1595820 c.1507C>A p.L503I Substitution - Missense 6:125081459-125081459 + RK131_C01 COSM3702882 c.712A>G p.S238G Substitution - Missense 6:125082481-125082481 + YULOCUS COSM5404285 c.409C>T p.H137Y Substitution - Missense 6:125076660-125076660 + Pat_53_B COSM1697873 c.553C>T p.R185C Substitution - Missense 6:125076804-125076804 + TCGA-BR-8361-01 COSM3858023 c.637A>G p.M213V Substitution - Missense 6:125081465-125081465 + 051-0099-05TD COSM1317162 c.1430G>A p.R477H Substitution - Missense 6:125076805-125076805 + 2521252 COSM5888931 c.549A>T p.K183N Substitution - Missense 6:125076800-125076800 + TCGA-EE-A29M-06 COSM1697873 c.553C>T p.R185C Substitution - Missense 6:125076804-125076804 + HCC14T COSM1620852 c.689delT p.K231fs*7 Deletion - Frameshift 6:125082458-125082458 + T3090 COSM4722152 c.1587_1588insA p.Q532fs*>12 Insertion - Frameshift 6:125082895-125082896 + I2L-P19Ta-Tumor-Biopsy COSM5357344 c.253G>A p.A85T Substitution - Missense 6:124962797-124962797 + TCGA-BR-6802-01 COSM3858013 c.969G>A p.T323T Substitution - coding silent 6:125045297-125045297 + TCGA-B5-A0JV-01 COSM1154558 c.1556-1G>T p.? Unknown 6:125082863-125082863 + C135 COSM4618554 c.1026C>T p.S342S Substitution - coding silent 6:125045354-125045354 + TCGA-AA-A010-01 COSM284635 c.807T>G p.I269M Substitution - Missense 6:125082876-125082876 + TCGA-BF-A1PU-01 COSM4399689 c.571C>T p.P191S Substitution - Missense 6:125076822-125076822 + PT49 COSM5935173 c.1438C>T p.P480S Substitution - Missense 6:125076813-125076813 + C086 COSM5538297 c.503G>A p.R168Q Substitution - Missense 6:125076754-125076754 + LAU63 COSM232520 c.667G>A p.A223T Substitution - Missense 6:125081495-125081495 + L13 COSM5369115 c.395C>A p.P132Q Substitution - Missense 6:125058096-125058096 + TCGA-BR-8361-01 COSM3858024 c.1513A>G p.M505V Substitution - Missense 6:125081465-125081465 + YUPROST COSM1697873 c.553C>T p.R185C Substitution - Missense 6:125076804-125076804 + ATL090 COSM5709844 c.532G>A p.A178T Substitution - Missense 6:124963076-124963076 + CML030T COSM5802878 c.475C>T p.R159* Substitution - Nonsense 6:125076726-125076726 + TCGA-GM-A2DH-01 COSM3828965 c.265G>T p.V89F Substitution - Missense 6:125057966-125057966 + T207 COSM4722146 c.1341delT p.C449fs*37 Deletion - Frameshift 6:125076716-125076716 + TCGA-AX-A0J0-01 COSM284635 c.807T>G p.I269M Substitution - Missense 6:125082876-125082876 + YUKAT COSM5404289 c.1364G>A p.R455K Substitution - Missense 6:125076739-125076739 + PD18749a COSM5780573 c.1282-7G>C p.? Unknown 6:125076650-125076650 + YULAN COSM1697874 c.1429C>T p.R477C Substitution - Missense 6:125076804-125076804 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.368639 6q22.31

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.I47V c.139A>G 6 125366489 HC C A IntronicSNV . c.241-5195C>A 6 125373893 CLL C G Synonymous p.G6G c.18C>G 6 125366368 RCCC C T IntronicSNV . c.6+120C>T 6 125330548 CM C T Missense p.P191S c.571C>T 6 125397968 CM C T Missense p.R165C c.493C>T 6 125397890 CM C T Missense p.R165C c.493C>T 6 125397890 ESCA C T Missense p.R185C c.553C>T 6 125397950 CM C T Missense p.S270F c.809C>T 6 125404024 CM C T Nonsense p.Q82* c.244C>T 6 125379091 CM C T Nonsense p.R168* c.502C>T 6 125397899 BRCA C T Nonsense p.R198* c.592C>T 6 125397989 COREAD C T Synonymous p.C83C c.249C>T 6 125379096 GBM C T Synonymous p.F20F c.60C>T 6 125366410 CM G A Missense p.R198Q c.593G>A 6 125397990 CM G A Missense p.R46H c.137G>A 6 125366487 BLCA G A Synonymous p.T31T c.93G>A 6 125366443 STAD G C Missense p.E33Q c.97G>C 6 125366447 UCEC G T Missense p.C149F c.446G>T 6 125397843 STAD G T Missense p.M1I c.3G>T 6 125330425 SCLC G T Missense p.V27F c.79G>T 6 125366429 LUAD G T Nonsense p.G110* c.328G>T 6 125379175 CM G T Synonymous p.V265V c.795G>T 6 125404010 LUAD T A Missense p.F266Y c.797T>A 6 125404012 CM T G Missense p.F266L c.798T>G 6 125404013 UCEC