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 9 17795615 17795615 + Silent SNP T T C TCGA-OR-A5J4-01A-11D-A29I-10 TCGA-OR-A5J4-10A-01D-A29L-10 g.chr9:17795615T>C c.933T>C c.(931-933)ttT>ttC p.F311F BLCA 9 17786443 17786443 + Silent SNP A A G TCGA-BL-A5ZZ-01A-31D-A30E-08 TCGA-BL-A5ZZ-10A-01D-A30H-08 g.chr9:17786443A>G c.252A>G c.(250-252)ccA>ccG p.P84P BLCA 9 17786485 17786485 + Silent SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr9:17786485C>G c.294C>G c.(292-294)ctC>ctG p.L98L BLCA 9 17791268 17791268 + Missense_Mutation SNP C C G TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr9:17791268C>G c.664C>G c.(664-666)Cag>Gag p.Q222E BLCA 9 17791318 17791318 + Silent SNP C C G TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr9:17791318C>G c.714C>G c.(712-714)gtC>gtG p.V238V BLCA 9 17795689 17795689 + Missense_Mutation SNP C C T TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr9:17795689C>T c.1007C>T c.(1006-1008)tCa>tTa p.S336L BRCA 9 17747112 17747112 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr9:17747112G>A c.94G>A c.(94-96)Gac>Aac p.D32N BRCA 9 17761476 17761476 + Silent SNP T T A TCGA-BH-A1FC-01A-11D-A13L-09 TCGA-BH-A1FC-11A-32D-A188-09 g.chr9:17761476T>A c.156T>A c.(154-156)acT>acA p.T52T BRCA 9 17787384 17787384 + Missense_Mutation SNP C C T TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 g.chr9:17787384C>T c.338C>T c.(337-339)gCa>gTa p.A113V BRCA 9 17795652 17795652 + Missense_Mutation SNP G G A TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 g.chr9:17795652G>A c.970G>A c.(970-972)Gat>Aat p.D324N COAD 9 17747074 17747074 + Missense_Mutation SNP A A T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr9:17747074A>T c.56A>T c.(55-57)gAg>gTg p.E19V COAD 9 17761458 17761458 + Silent SNP T T A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr9:17761458T>A c.138T>A c.(136-138)gcT>gcA p.A46A COAD 9 17786392 17786392 + Missense_Mutation SNP G G T TCGA-AA-A01G-01A-01W-A005-10 TCGA-AA-A01G-10A-01W-A005-10 g.chr9:17786392G>T c.201G>T c.(199-201)aaG>aaT p.K67N COAD 9 17793415 17793415 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr9:17793415G>A c.779G>A c.(778-780)cGa>cAa p.R260Q COAD 9 17793465 17793465 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr9:17793465C>T c.829C>T c.(829-831)Ctc>Ttc p.L277F COAD 9 17795639 17795639 + Silent SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr9:17795639C>A c.957C>A c.(955-957)ctC>ctA p.L319L COADREAD 9 17747074 17747074 + Missense_Mutation SNP A A T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr9:17747074A>T c.56A>T c.(55-57)gAg>gTg p.E19V COADREAD 9 17761458 17761458 + Silent SNP T T A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr9:17761458T>A c.138T>A c.(136-138)gcT>gcA p.A46A COADREAD 9 17786392 17786392 + Missense_Mutation SNP G G T TCGA-AA-A01G-01A-01W-A005-10 TCGA-AA-A01G-10A-01W-A005-10 g.chr9:17786392G>T c.201G>T c.(199-201)aaG>aaT p.K67N COADREAD 9 17793415 17793415 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr9:17793415G>A c.779G>A c.(778-780)cGa>cAa p.R260Q COADREAD 9 17793465 17793465 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr9:17793465C>T c.829C>T c.(829-831)Ctc>Ttc p.L277F COADREAD 9 17795639 17795639 + Silent SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr9:17795639C>A c.957C>A c.(955-957)ctC>ctA p.L319L ESCA 9 17747117 17747117 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 g.chr9:17747117C>T c.99C>T c.(97-99)ttC>ttT p.F33F ESCA 9 17761480 17761480 + Missense_Mutation SNP A A T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 g.chr9:17761480A>T c.160A>T c.(160-162)Aca>Tca p.T54S ESCA 9 17787381 17787381 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 g.chr9:17787381C>T c.335C>T c.(334-336)cCa>cTa p.P112L GBM 9 17791242 17791242 + Missense_Mutation SNP G G A TCGA-06-6390-01A-11D-1696-08 TCGA-06-6390-10A-01D-1696-08 g.chr9:17791242G>A c.638G>A c.(637-639)aGc>aAc p.S213N GBMLGG 9 17747099 17747099 + Silent SNP C C T TCGA-DU-8167-01A-11D-2253-08 TCGA-DU-8167-10A-01D-2253-08 g.chr9:17747099C>T c.81C>T c.(79-81)acC>acT p.T27T GBMLGG 9 17786520 17786520 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:17786520T>C c.329T>C c.(328-330)tTt>tCt p.F110S GBMLGG 9 17791242 17791242 + Missense_Mutation SNP G G A TCGA-06-6390-01A-11D-1696-08 TCGA-06-6390-10A-01D-1696-08 g.chr9:17791242G>A c.638G>A c.(637-639)aGc>aAc p.S213N GBMLGG 9 17795580 17795580 + Missense_Mutation SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 g.chr9:17795580G>A c.898G>A c.(898-900)Gac>Aac p.D300N HNSC 9 17791298 17791298 + Missense_Mutation SNP A A T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 g.chr9:17791298A>T c.694A>T c.(694-696)Atc>Ttc p.I232F HNSC 9 17793364 17793364 + Splice_Site SNP G G A TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr9:17793364G>A c.e8-1 HNSC 9 17793390 17793390 + Nonsense_Mutation SNP A A T TCGA-D6-8568-01A-11D-2394-08 TCGA-D6-8568-10A-01D-2394-08 g.chr9:17793390A>T c.754A>T c.(754-756)Aga>Tga p.R252* HNSC 9 17793391 17793392 + Frame_Shift_Ins INS - - A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr9:17793391_17793392insA c.755_756insA c.(754-759)agaaggfs p.R253fs KIPAN 9 17787382 17787382 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr9:17787382A>G c.336A>G c.(334-336)ccA>ccG p.P112P KIRC 9 17787382 17787382 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr9:17787382A>G c.336A>G c.(334-336)ccA>ccG p.P112P LGG 9 17747099 17747099 + Silent SNP C C T TCGA-DU-8167-01A-11D-2253-08 TCGA-DU-8167-10A-01D-2253-08 g.chr9:17747099C>T c.81C>T c.(79-81)acC>acT p.T27T LGG 9 17786520 17786520 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:17786520T>C c.329T>C c.(328-330)tTt>tCt p.F110S LGG 9 17795580 17795580 + Missense_Mutation SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 g.chr9:17795580G>A c.898G>A c.(898-900)Gac>Aac p.D300N LIHC 9 17787406 17787406 + Silent SNP C C A TCGA-DD-A113-01A-11D-A12Z-10 TCGA-DD-A113-10A-01D-A12Z-10 g.chr9:17787406C>A c.360C>A c.(358-360)gcC>gcA p.A120A LIHC 9 17789515 17789515 + Silent SNP T T A TCGA-K7-A5RG-01A-11D-A28X-10 TCGA-K7-A5RG-10A-01D-A28X-10 g.chr9:17789515T>A c.591T>A c.(589-591)gcT>gcA p.A197A LIHC 9 17791315 17791315 + Silent SNP G G T TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr9:17791315G>T c.711G>T c.(709-711)acG>acT p.T237T LIHC 9 17793437 17793437 + Silent SNP T T A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr9:17793437T>A c.801T>A c.(799-801)acT>acA p.T267T LIHC 9 17795714 17795714 + Silent SNP G G A TCGA-DD-A11A-01A-11D-A12Z-10 TCGA-DD-A11A-10A-01D-A12Z-10 g.chr9:17795714G>A c.1032G>A c.(1030-1032)gtG>gtA p.V344V LUAD 9 17747126 17747126 + Missense_Mutation SNP G G T TCGA-44-A4SU-01A-11D-A24P-08 TCGA-44-A4SU-10A-01D-A24P-08 g.chr9:17747126G>T c.108G>T c.(106-108)atG>atT p.M36I LUAD 9 17786510 17786510 + Missense_Mutation SNP G G A TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr9:17786510G>A c.319G>A c.(319-321)Gat>Aat p.D107N LUAD 9 17789439 17789439 + Missense_Mutation SNP A A T TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr9:17789439A>T c.515A>T c.(514-516)aAg>aTg p.K172M LUAD 9 17789495 17789495 + Missense_Mutation SNP G G A TCGA-78-7149-01A-11D-2036-08 TCGA-78-7149-10A-01D-2036-08 g.chr9:17789495G>A c.571G>A c.(571-573)Gat>Aat p.D191N LUAD 9 17789527 17789527 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chr9:17789527G>T c.603G>T c.(601-603)atG>atT p.M201I LUAD 9 17791273 17791273 + Silent SNP G G A TCGA-97-7546-01A-11D-2036-08 TCGA-97-7546-10A-01D-2036-08 g.chr9:17791273G>A c.669G>A c.(667-669)ctG>ctA p.L223L LUAD 9 17791274 17791274 + Nonsense_Mutation SNP G G T TCGA-97-7546-01A-11D-2036-08 TCGA-97-7546-10A-01D-2036-08 g.chr9:17791274G>T c.670G>T c.(670-672)Gag>Tag p.E224* LUAD 9 17791292 17791292 + Missense_Mutation SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr9:17791292G>T c.688G>T c.(688-690)Gtc>Ttc p.V230F LUAD 9 17793473 17793473 + Silent SNP C C T TCGA-69-7974-01A-11D-2184-08 TCGA-69-7974-10A-01D-2184-08 g.chr9:17793473C>T c.837C>T c.(835-837)caC>caT p.H279H LUAD 9 17795576 17795576 + Silent SNP G G T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr9:17795576G>T c.894G>T c.(892-894)ctG>ctT p.L298L LUAD 9 17795655 17795655 + Nonsense_Mutation SNP G G T TCGA-62-A46P-01A-11D-A24D-08 TCGA-62-A46P-10A-01D-A24F-08 g.chr9:17795655G>T c.973G>T c.(973-975)Gag>Tag p.E325* LUAD 9 17795682 17795682 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 g.chr9:17795682G>T c.1000G>T c.(1000-1002)Ggc>Tgc p.G334C LUSC 9 17761492 17761492 + Missense_Mutation SNP C C A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 g.chr9:17761492C>A c.172C>A c.(172-174)Ctt>Att p.L58I LUSC 9 17789429 17789429 + Missense_Mutation SNP G G A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 g.chr9:17789429G>A c.505G>A c.(505-507)Gat>Aat p.D169N LUSC 9 17795590 17795590 + Missense_Mutation SNP C C A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 g.chr9:17795590C>A c.908C>A c.(907-909)cCt>cAt p.P303H PRAD 9 17791307 17791307 + Nonsense_Mutation SNP C C T TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 g.chr9:17791307C>T c.703C>T c.(703-705)Caa>Taa p.Q235* SKCM 9 17747095 17747095 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr9:17747095G>A c.77G>A c.(76-78)gGa>gAa p.G26E SKCM 9 17786423 17786423 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr9:17786423C>T c.232C>T c.(232-234)Cgt>Tgt p.R78C SKCM 9 17786438 17786438 + Missense_Mutation SNP G G A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 g.chr9:17786438G>A c.247G>A c.(247-249)Ggg>Agg p.G83R SKCM 9 17787380 17787380 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr9:17787380C>T c.334C>T c.(334-336)Cca>Tca p.P112S SKCM 9 17789545 17789545 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr9:17789545G>A c.621G>A c.(619-621)atG>atA p.M207I SKCM 9 17791249 17791249 + Silent SNP C C T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr9:17791249C>T c.645C>T c.(643-645)ctC>ctT p.L215L SKCM 9 17791332 17791332 + Splice_Site SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr9:17791332G>A c.728G>A c.(727-729)aGa>aAa p.R243K SKCM 9 17793432 17793432 + Missense_Mutation SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr9:17793432C>T c.796C>T c.(796-798)Cca>Tca p.P266S SKCM 9 17793433 17793433 + Missense_Mutation SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr9:17793433C>T c.797C>T c.(796-798)cCa>cTa p.P266L SKCM 9 17795553 17795553 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 g.chr9:17795553G>A c.871G>A c.(871-873)Gat>Aat p.D291N SKCM 9 17795610 17795610 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr9:17795610G>A c.928G>A c.(928-930)Gga>Aga p.G310R SKCM 9 17795676 17795676 + Missense_Mutation SNP C C A TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr9:17795676C>A c.994C>A c.(994-996)Ctg>Atg p.L332M SKCM 9 17795735 17795735 + Silent SNP C C T TCGA-D3-A51J-06A-11D-A25O-08 TCGA-D3-A51J-10A-01D-A25O-08 g.chr9:17795735C>T c.1053C>T c.(1051-1053)ccC>ccT p.P351P

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 9 17789398 17789398 single base substitution A G synonymous_variant L111L 333A>G BLCA-CN 9 17789398 17789398 single base substitution A G synonymous_variant L158L 474A>G BLCA-CN 9 17791262 17791262 single base substitution C A missense_variant Q173K 517C>A BLCA-CN 9 17791262 17791262 single base substitution C A missense_variant Q220K 658C>A BOCA-FR 9 17742464 17742464 single base substitution T C intron_variant BRCA-EU 9 17574643 17574643 single base substitution G A upstream_gene_variant BRCA-EU 9 17574747 17574747 deletion of <=200bp A - upstream_gene_variant BRCA-EU 9 17576810 17576810 single base substitution C G upstream_gene_variant BRCA-EU 9 17577628 17577628 single base substitution G A upstream_gene_variant BRCA-EU 9 17577712 17577712 single base substitution C G upstream_gene_variant BRCA-EU 9 17577961 17577961 single base substitution C T upstream_gene_variant BRCA-EU 9 17580271 17580271 single base substitution T A intron_variant BRCA-EU 9 17580544 17580544 single base substitution G A intron_variant BRCA-EU 9 17581009 17581009 single base substitution A C intron_variant BRCA-EU 9 17581042 17581042 single base substitution G A intron_variant BRCA-EU 9 17581321 17581321 single base substitution C T intron_variant BRCA-EU 9 17581614 17581614 single base substitution C G intron_variant BRCA-EU 9 17582374 17582374 single base substitution G T intron_variant BRCA-EU 9 17582690 17582690 single base substitution C T intron_variant BRCA-EU 9 17583765 17583765 single base substitution C T intron_variant BRCA-EU 9 17583934 17583934 single base substitution G A intron_variant BRCA-EU 9 17584142 17584142 single base substitution G T intron_variant BRCA-EU 9 17584643 17584643 single base substitution A T intron_variant BRCA-EU 9 17586223 17586223 single base substitution G A intron_variant BRCA-EU 9 17586394 17586394 single base substitution G C intron_variant BRCA-EU 9 17587466 17587466 single base substitution G A intron_variant BRCA-EU 9 17587539 17587539 single base substitution A G intron_variant BRCA-EU 9 17587748 17587748 single base substitution C T intron_variant BRCA-EU 9 17588123 17588123 single base substitution G A intron_variant BRCA-EU 9 17588429 17588429 single base substitution C T intron_variant BRCA-EU 9 17589151 17589151 single base substitution C G intron_variant BRCA-EU 9 17589204 17589204 single base substitution T A intron_variant BRCA-EU 9 17589860 17589860 single base substitution C T intron_variant BRCA-EU 9 17590899 17590899 single base substitution G A intron_variant BRCA-EU 9 17590905 17590905 single base substitution G A intron_variant BRCA-EU 9 17591047 17591047 single base substitution C T intron_variant BRCA-EU 9 17591310 17591310 single base substitution C A intron_variant BRCA-EU 9 17591350 17591350 deletion of <=200bp C - intron_variant BRCA-EU 9 17591995 17591995 single base substitution G A intron_variant BRCA-EU 9 17592643 17592643 single base substitution G T intron_variant BRCA-EU 9 17593644 17593644 single base substitution G T intron_variant BRCA-EU 9 17594034 17594034 single base substitution C T intron_variant BRCA-EU 9 17594219 17594219 single base substitution A C intron_variant BRCA-EU 9 17594289 17594289 single base substitution C T intron_variant BRCA-EU 9 17594305 17594305 single base substitution G A intron_variant BRCA-EU 9 17594512 17594512 single base substitution C A intron_variant BRCA-EU 9 17594724 17594724 single base substitution T A intron_variant BRCA-EU 9 17595148 17595148 single base substitution C T intron_variant BRCA-EU 9 17595394 17595394 deletion of <=200bp C - intron_variant BRCA-EU 9 17598059 17598059 single base substitution C A intron_variant BRCA-EU 9 17600482 17600482 single base substitution G A intron_variant BRCA-EU 9 17600585 17600585 single base substitution C A intron_variant BRCA-EU 9 17600837 17600837 single base substitution G A intron_variant BRCA-EU 9 17602256 17602256 single base substitution C A intron_variant BRCA-EU 9 17602535 17602535 single base substitution G C intron_variant BRCA-EU 9 17602778 17602778 single base substitution C G intron_variant BRCA-EU 9 17602960 17602960 single base substitution C G intron_variant BRCA-EU 9 17603097 17603097 single base substitution A G intron_variant BRCA-EU 9 17606656 17606656 single base substitution G T intron_variant BRCA-EU 9 17609030 17609030 single base substitution C T intron_variant BRCA-EU 9 17610597 17610597 insertion of <=200bp - A intron_variant BRCA-EU 9 17610710 17610710 single base substitution A G intron_variant BRCA-EU 9 17611163 17611163 single base substitution G A intron_variant BRCA-EU 9 17611164 17611164 single base substitution A C intron_variant BRCA-EU 9 17611538 17611538 single base substitution G A intron_variant BRCA-EU 9 17611967 17611967 single base substitution C A intron_variant BRCA-EU 9 17613680 17613680 single base substitution C T intron_variant BRCA-EU 9 17613681 17613681 single base substitution T A intron_variant BRCA-EU 9 17613754 17613754 single base substitution G A intron_variant BRCA-EU 9 17614285 17614285 single base substitution T C intron_variant BRCA-EU 9 17615442 17615442 single base substitution C T intron_variant BRCA-EU 9 17616737 17616737 deletion of <=200bp T - intron_variant BRCA-EU 9 17616984 17616984 single base substitution C T intron_variant BRCA-EU 9 17617893 17617893 single base substitution A G intron_variant BRCA-EU 9 17618879 17618879 single base substitution G C intron_variant BRCA-EU 9 17619422 17619422 single base substitution T C intron_variant BRCA-EU 9 17619504 17619504 single base substitution C A intron_variant BRCA-EU 9 17619505 17619505 single base substitution G A intron_variant BRCA-EU 9 17619916 17619916 single base substitution C T intron_variant BRCA-EU 9 17620224 17620224 single base substitution C T intron_variant BRCA-EU 9 17620510 17620510 single base substitution G A intron_variant BRCA-EU 9 17620593 17620594 deletion of <=200bp TG - intron_variant BRCA-EU 9 17621281 17621281 single base substitution A G intron_variant BRCA-EU 9 17621754 17621754 single base substitution G C intron_variant BRCA-EU 9 17622590 17622590 deletion of <=200bp A - intron_variant BRCA-EU 9 17622859 17622859 single base substitution A G intron_variant BRCA-EU 9 17623233 17623233 single base substitution C T intron_variant BRCA-EU 9 17623245 17623245 single base substitution C T intron_variant BRCA-EU 9 17625000 17625000 single base substitution C G intron_variant BRCA-EU 9 17625321 17625321 single base substitution C G intron_variant BRCA-EU 9 17625406 17625406 single base substitution C T intron_variant BRCA-EU 9 17625957 17625958 deletion of <=200bp TG - intron_variant BRCA-EU 9 17625978 17625978 single base substitution G A intron_variant BRCA-EU 9 17626314 17626314 single base substitution G A intron_variant BRCA-EU 9 17626531 17626531 single base substitution T A intron_variant BRCA-EU 9 17627248 17627248 single base substitution G A intron_variant BRCA-EU 9 17627450 17627450 single base substitution C G intron_variant BRCA-EU 9 17627806 17627806 single base substitution G C intron_variant BRCA-EU 9 17628050 17628050 insertion of <=200bp - T intron_variant BRCA-EU 9 17628289 17628289 single base substitution C G intron_variant BRCA-EU 9 17629977 17629977 single base substitution G A intron_variant BRCA-EU 9 17630222 17630222 single base substitution C T intron_variant BRCA-EU 9 17630735 17630735 single base substitution T A downstream_gene_variant BRCA-EU 9 17630735 17630735 single base substitution T A intron_variant BRCA-EU 9 17631661 17631661 single base substitution G C downstream_gene_variant BRCA-EU 9 17631661 17631661 single base substitution G C intron_variant BRCA-EU 9 17633062 17633062 single base substitution C A downstream_gene_variant BRCA-EU 9 17633062 17633062 single base substitution C A intron_variant BRCA-EU 9 17634029 17634029 single base substitution G A downstream_gene_variant BRCA-EU 9 17634029 17634029 single base substitution G A intron_variant BRCA-EU 9 17634617 17634617 single base substitution C A downstream_gene_variant BRCA-EU 9 17634617 17634617 single base substitution C A intron_variant BRCA-EU 9 17634633 17634633 single base substitution C T downstream_gene_variant BRCA-EU 9 17634633 17634633 single base substitution C T intron_variant BRCA-EU 9 17634853 17634853 single base substitution A G downstream_gene_variant BRCA-EU 9 17634853 17634853 single base substitution A G intron_variant BRCA-EU 9 17635401 17635401 single base substitution A C downstream_gene_variant BRCA-EU 9 17635401 17635401 single base substitution A C intron_variant BRCA-EU 9 17635679 17635679 single base substitution G C intron_variant BRCA-EU 9 17637877 17637877 single base substitution G A intron_variant BRCA-EU 9 17638559 17638559 single base substitution C T intron_variant BRCA-EU 9 17639594 17639594 single base substitution T A intron_variant BRCA-EU 9 17640166 17640166 single base substitution T C intron_variant BRCA-EU 9 17640358 17640358 deletion of <=200bp T - intron_variant BRCA-EU 9 17640443 17640443 single base substitution G A intron_variant BRCA-EU 9 17640785 17640785 single base substitution G C intron_variant BRCA-EU 9 17640883 17640883 single base substitution G T intron_variant BRCA-EU 9 17641354 17641354 single base substitution T G intron_variant BRCA-EU 9 17642869 17642869 single base substitution C T intron_variant BRCA-EU 9 17643118 17643118 single base substitution G A intron_variant BRCA-EU 9 17643352 17643352 single base substitution C G intron_variant BRCA-EU 9 17643462 17643462 single base substitution G C intron_variant BRCA-EU 9 17643869 17643869 single base substitution C T intron_variant BRCA-EU 9 17644566 17644566 single base substitution A G intron_variant BRCA-EU 9 17644995 17644995 single base substitution C G intron_variant BRCA-EU 9 17647197 17647197 single base substitution A G intron_variant BRCA-EU 9 17647922 17647922 single base substitution C A intron_variant BRCA-EU 9 17648281 17648281 single base substitution G C intron_variant BRCA-EU 9 17648290 17648290 single base substitution C T intron_variant BRCA-EU 9 17648329 17648329 single base substitution G C intron_variant BRCA-EU 9 17648348 17648348 single base substitution G C intron_variant BRCA-EU 9 17648632 17648632 single base substitution G A intron_variant BRCA-EU 9 17648807 17648807 single base substitution A T intron_variant BRCA-EU 9 17648827 17648827 single base substitution A T intron_variant BRCA-EU 9 17649631 17649631 single base substitution T G intron_variant BRCA-EU 9 17650430 17650430 single base substitution C T intron_variant BRCA-EU 9 17651803 17651803 single base substitution T A intron_variant BRCA-EU 9 17652336 17652336 single base substitution G A intron_variant BRCA-EU 9 17653488 17653488 single base substitution A C intron_variant BRCA-EU 9 17653532 17653576 deletion of <=200bp CATAATTTTCTCTGGACTCATCTTTAATTCCTCTGGAGTTATTAC - intron_variant BRCA-EU 9 17653533 17653533 single base substitution A G intron_variant BRCA-EU 9 17654043 17654043 deletion of <=200bp C - intron_variant BRCA-EU 9 17655269 17655269 single base substitution C G intron_variant BRCA-EU 9 17656004 17656004 single base substitution C G intron_variant BRCA-EU 9 17656951 17656951 insertion of <=200bp - A intron_variant BRCA-EU 9 17656961 17656961 single base substitution C T intron_variant BRCA-EU 9 17657308 17657315 deletion of <=200bp ACATGCAC - intron_variant BRCA-EU 9 17658143 17658143 single base substitution G A intron_variant BRCA-EU 9 17658437 17658437 single base substitution G T intron_variant BRCA-EU 9 17658545 17658545 single base substitution A T intron_variant BRCA-EU 9 17659075 17659075 single base substitution C G intron_variant BRCA-EU 9 17659749 17659749 single base substitution A C intron_variant BRCA-EU 9 17660215 17660215 single base substitution C A intron_variant BRCA-EU 9 17660390 17660390 single base substitution G A intron_variant BRCA-EU 9 17660712 17660712 single base substitution C T intron_variant BRCA-EU 9 17662580 17662580 single base substitution C T intron_variant BRCA-EU 9 17662893 17662893 single base substitution G T intron_variant BRCA-EU 9 17662933 17662933 single base substitution T A intron_variant BRCA-EU 9 17662968 17662968 single base substitution T C intron_variant BRCA-EU 9 17663168 17663168 single base substitution A G intron_variant BRCA-EU 9 17663284 17663284 single base substitution G C intron_variant BRCA-EU 9 17664123 17664123 single base substitution G A intron_variant BRCA-EU 9 17664459 17664459 single base substitution T C intron_variant BRCA-EU 9 17664942 17664942 single base substitution G T intron_variant BRCA-EU 9 17665051 17665051 single base substitution C G intron_variant BRCA-EU 9 17665102 17665102 single base substitution G A intron_variant BRCA-EU 9 17665323 17665323 single base substitution G C intron_variant BRCA-EU 9 17665808 17665808 single base substitution C T intron_variant BRCA-EU 9 17667643 17667643 single base substitution C T intron_variant BRCA-EU 9 17667752 17667752 single base substitution A G intron_variant BRCA-EU 9 17667757 17667757 single base substitution T A intron_variant BRCA-EU 9 17667786 17667786 single base substitution C T intron_variant BRCA-EU 9 17668251 17668251 insertion of <=200bp - T intron_variant BRCA-EU 9 17668684 17668684 single base substitution T C intron_variant BRCA-EU 9 17669256 17669256 single base substitution A T intron_variant BRCA-EU 9 17669323 17669323 single base substitution T C intron_variant BRCA-EU 9 17670312 17670312 single base substitution A G intron_variant BRCA-EU 9 17670389 17670389 deletion of <=200bp T - intron_variant BRCA-EU 9 17672711 17672711 single base substitution T C intron_variant BRCA-EU 9 17672907 17672907 single base substitution C A intron_variant BRCA-EU 9 17673085 17673085 single base substitution A T intron_variant BRCA-EU 9 17674117 17674117 single base substitution G C intron_variant BRCA-EU 9 17674470 17674470 single base substitution G A intron_variant BRCA-EU 9 17675687 17675687 single base substitution G A intron_variant BRCA-EU 9 17675851 17675851 single base substitution G C intron_variant BRCA-EU 9 17675960 17675960 single base substitution A T intron_variant BRCA-EU 9 17677205 17677205 single base substitution T C intron_variant BRCA-EU 9 17677366 17677366 single base substitution G A intron_variant BRCA-EU 9 17678285 17678285 single base substitution C G intron_variant BRCA-EU 9 17678833 17678833 single base substitution C T intron_variant BRCA-EU 9 17681393 17681393 single base substitution C A intron_variant BRCA-EU 9 17681456 17681456 single base substitution A G intron_variant BRCA-EU 9 17682504 17682504 single base substitution G C intron_variant BRCA-EU 9 17682753 17682753 single base substitution A C intron_variant BRCA-EU 9 17682871 17682888 deletion of <=200bp CTTTTGTATTATTGAAAC - intron_variant BRCA-EU 9 17683035 17683035 single base substitution G C intron_variant BRCA-EU 9 17683655 17683655 single base substitution C T intron_variant BRCA-EU 9 17684887 17684887 single base substitution T A intron_variant BRCA-EU 9 17684928 17684928 single base substitution G A intron_variant BRCA-EU 9 17684943 17684943 single base substitution G T intron_variant BRCA-EU 9 17685061 17685061 single base substitution G T intron_variant BRCA-EU 9 17685143 17685143 single base substitution G C intron_variant BRCA-EU 9 17685482 17685482 single base substitution G T intron_variant BRCA-EU 9 17685870 17685870 single base substitution G A intron_variant BRCA-EU 9 17685872 17685872 single base substitution A G intron_variant BRCA-EU 9 17689035 17689035 single base substitution G C intron_variant BRCA-EU 9 17689507 17689507 single base substitution T C intron_variant BRCA-EU 9 17689517 17689517 single base substitution T G intron_variant BRCA-EU 9 17691389 17691389 single base substitution G T intron_variant BRCA-EU 9 17691703 17691703 single base substitution G T intron_variant BRCA-EU 9 17692262 17692262 single base substitution A T intron_variant BRCA-EU 9 17692431 17692431 single base substitution G C intron_variant BRCA-EU 9 17692904 17692904 single base substitution G A intron_variant BRCA-EU 9 17693878 17693878 single base substitution G T intron_variant BRCA-EU 9 17693956 17693956 single base substitution G A intron_variant BRCA-EU 9 17694647 17694647 single base substitution A C intron_variant BRCA-EU 9 17694663 17694663 single base substitution G A intron_variant BRCA-EU 9 17694699 17694699 single base substitution G C intron_variant BRCA-EU 9 17694926 17694926 single base substitution G A intron_variant BRCA-EU 9 17695180 17695180 single base substitution C T intron_variant BRCA-EU 9 17695878 17695878 single base substitution C G intron_variant BRCA-EU 9 17696711 17696711 single base substitution C T intron_variant BRCA-EU 9 17696893 17696893 single base substitution A T intron_variant BRCA-EU 9 17697158 17697158 single base substitution G A intron_variant BRCA-EU 9 17698533 17698533 single base substitution G A intron_variant BRCA-EU 9 17698582 17698582 single base substitution C A intron_variant BRCA-EU 9 17698590 17698590 single base substitution G A intron_variant BRCA-EU 9 17698890 17698890 single base substitution C T intron_variant BRCA-EU 9 17699672 17699672 single base substitution G A intron_variant BRCA-EU 9 17699792 17699792 single base substitution C T intron_variant BRCA-EU 9 17700888 17700888 single base substitution C A intron_variant BRCA-EU 9 17701497 17701497 single base substitution G C intron_variant BRCA-EU 9 17701920 17701920 single base substitution A G intron_variant BRCA-EU 9 17702651 17702651 single base substitution C A intron_variant BRCA-EU 9 17703593 17703593 single base substitution C G intron_variant BRCA-EU 9 17705641 17705641 single base substitution T C intron_variant BRCA-EU 9 17706222 17706222 single base substitution G T intron_variant BRCA-EU 9 17707485 17707485 single base substitution G A intron_variant BRCA-EU 9 17707540 17707540 single base substitution A T intron_variant BRCA-EU 9 17707663 17707663 single base substitution T C intron_variant BRCA-EU 9 17708190 17708190 single base substitution C G intron_variant BRCA-EU 9 17708239 17708239 single base substitution T G intron_variant BRCA-EU 9 17708601 17708601 single base substitution G A intron_variant BRCA-EU 9 17709985 17709985 single base substitution T C intron_variant BRCA-EU 9 17710253 17710253 single base substitution G T intron_variant BRCA-EU 9 17711491 17711491 single base substitution G A intron_variant BRCA-EU 9 17711623 17711623 single base substitution G A intron_variant BRCA-EU 9 17711727 17711727 single base substitution G A intron_variant BRCA-EU 9 17713200 17713200 single base substitution C A intron_variant BRCA-EU 9 17713647 17713647 single base substitution T C intron_variant BRCA-EU 9 17713880 17713880 single base substitution T C intron_variant BRCA-EU 9 17714831 17714831 single base substitution A G intron_variant BRCA-EU 9 17717236 17717236 single base substitution T A intron_variant BRCA-EU 9 17717648 17717648 single base substitution G A intron_variant BRCA-EU 9 17718437 17718437 single base substitution C G intron_variant BRCA-EU 9 17718778 17718778 single base substitution A C intron_variant BRCA-EU 9 17719311 17719311 single base substitution T A intron_variant BRCA-EU 9 17719462 17719462 single base substitution C A intron_variant BRCA-EU 9 17719552 17719552 single base substitution C T intron_variant BRCA-EU 9 17720371 17720371 single base substitution C T intron_variant BRCA-EU 9 17720925 17720925 single base substitution A G intron_variant BRCA-EU 9 17721009 17721009 single base substitution G C intron_variant BRCA-EU 9 17721129 17721129 single base substitution C A intron_variant BRCA-EU 9 17721617 17721617 single base substitution G A intron_variant BRCA-EU 9 17722022 17722022 single base substitution G T intron_variant BRCA-EU 9 17722663 17722663 single base substitution T A intron_variant BRCA-EU 9 17723652 17723652 single base substitution C T intron_variant BRCA-EU 9 17724843 17724843 single base substitution C T intron_variant BRCA-EU 9 17725131 17725131 single base substitution C T intron_variant BRCA-EU 9 17725384 17725384 single base substitution C T intron_variant BRCA-EU 9 17725522 17725522 single base substitution G T intron_variant BRCA-EU 9 17725552 17725552 single base substitution C T intron_variant BRCA-EU 9 17725977 17725977 single base substitution G T intron_variant BRCA-EU 9 17727213 17727213 single base substitution C T intron_variant BRCA-EU 9 17727427 17727427 single base substitution C A intron_variant BRCA-EU 9 17727575 17727575 single base substitution C T intron_variant BRCA-EU 9 17728596 17728596 single base substitution G T intron_variant BRCA-EU 9 17729027 17729027 single base substitution T C intron_variant BRCA-EU 9 17729669 17729669 single base substitution C T intron_variant BRCA-EU 9 17730359 17730359 single base substitution G A intron_variant BRCA-EU 9 17730805 17730805 single base substitution C T intron_variant BRCA-EU 9 17730805 17730805 single base substitution C T upstream_gene_variant BRCA-EU 9 17731693 17731693 single base substitution G T intron_variant BRCA-EU 9 17731693 17731693 single base substitution G T upstream_gene_variant BRCA-EU 9 17732323 17732323 single base substitution G C intron_variant BRCA-EU 9 17732323 17732323 single base substitution G C upstream_gene_variant BRCA-EU 9 17732605 17732605 single base substitution C T intron_variant BRCA-EU 9 17732605 17732605 single base substitution C T upstream_gene_variant BRCA-EU 9 17733352 17733352 single base substitution A C intron_variant BRCA-EU 9 17733352 17733352 single base substitution A C upstream_gene_variant BRCA-EU 9 17734090 17734090 single base substitution C G intron_variant BRCA-EU 9 17734090 17734090 single base substitution C G upstream_gene_variant BRCA-EU 9 17734198 17734198 single base substitution C A intron_variant BRCA-EU 9 17734198 17734198 single base substitution C A upstream_gene_variant BRCA-EU 9 17735008 17735008 single base substitution C G intron_variant BRCA-EU 9 17735008 17735008 single base substitution C G upstream_gene_variant BRCA-EU 9 17736938 17736938 single base substitution T G intron_variant BRCA-EU 9 17737377 17737380 deletion of <=200bp AATA - intron_variant BRCA-EU 9 17738287 17738287 deletion of <=200bp A - intron_variant BRCA-EU 9 17738750 17738750 single base substitution G T intron_variant BRCA-EU 9 17739436 17739436 deletion of <=200bp T - intron_variant BRCA-EU 9 17739681 17739681 single base substitution C T intron_variant BRCA-EU 9 17741667 17741667 single base substitution T A intron_variant BRCA-EU 9 17741743 17741743 single base substitution A G intron_variant BRCA-EU 9 17742518 17742518 single base substitution A T intron_variant BRCA-EU 9 17743956 17743956 single base substitution C T intron_variant BRCA-EU 9 17744426 17744426 single base substitution C T intron_variant BRCA-EU 9 17746039 17746039 single base substitution T G intron_variant BRCA-EU 9 17746112 17746112 single base substitution G A intron_variant BRCA-EU 9 17746248 17746248 single base substitution G T intron_variant BRCA-EU 9 17746575 17746575 single base substitution G A intron_variant BRCA-EU 9 17747315 17747315 single base substitution C T intron_variant BRCA-EU 9 17747329 17747329 single base substitution G C intron_variant BRCA-EU 9 17747872 17747872 single base substitution A G intron_variant BRCA-EU 9 17747971 17747971 single base substitution A C intron_variant BRCA-EU 9 17748645 17748645 single base substitution T A intron_variant BRCA-EU 9 17748677 17748677 single base substitution G T intron_variant BRCA-EU 9 17749235 17749235 single base substitution T C intron_variant BRCA-EU 9 17749361 17749361 single base substitution G T intron_variant BRCA-EU 9 17750000 17750000 single base substitution G T intron_variant BRCA-EU 9 17750341 17750341 single base substitution T A intron_variant BRCA-EU 9 17750351 17750351 single base substitution C T intron_variant BRCA-EU 9 17750710 17750710 single base substitution C T intron_variant BRCA-EU 9 17750854 17750854 single base substitution G T intron_variant BRCA-EU 9 17750944 17750944 single base substitution A T intron_variant BRCA-EU 9 17751109 17751109 single base substitution G A intron_variant BRCA-EU 9 17753010 17753010 single base substitution C A intron_variant BRCA-EU 9 17754407 17754407 single base substitution C A intron_variant BRCA-EU 9 17754785 17754785 single base substitution G A intron_variant BRCA-EU 9 17755498 17755498 single base substitution C A intron_variant BRCA-EU 9 17755682 17755682 single base substitution T A intron_variant BRCA-EU 9 17757441 17757441 single base substitution G T intron_variant BRCA-EU 9 17759886 17759886 single base substitution G T intron_variant BRCA-EU 9 17760865 17760865 single base substitution C A intron_variant BRCA-EU 9 17761638 17761638 single base substitution C T intron_variant BRCA-EU 9 17761711 17761711 single base substitution T A intron_variant BRCA-EU 9 17762433 17762433 single base substitution G C intron_variant BRCA-EU 9 17762674 17762674 single base substitution A T intron_variant BRCA-EU 9 17765304 17765304 single base substitution T C intron_variant BRCA-EU 9 17766591 17766591 single base substitution G A intron_variant BRCA-EU 9 17766792 17766792 single base substitution C T intron_variant BRCA-EU 9 17766795 17766795 single base substitution T C intron_variant BRCA-EU 9 17767914 17767914 single base substitution C G intron_variant BRCA-EU 9 17768117 17768117 single base substitution C T intron_variant BRCA-EU 9 17768586 17768586 single base substitution C T intron_variant BRCA-EU 9 17770246 17770246 single base substitution A G intron_variant BRCA-EU 9 17770736 17770736 single base substitution G A intron_variant BRCA-EU 9 17773159 17773159 single base substitution G A intron_variant BRCA-EU 9 17773420 17773420 single base substitution C G intron_variant BRCA-EU 9 17773429 17773429 single base substitution C A intron_variant BRCA-EU 9 17774073 17774073 single base substitution C A intron_variant BRCA-EU 9 17774432 17774432 single base substitution G C intron_variant BRCA-EU 9 17775851 17775851 single base substitution T A intron_variant BRCA-EU 9 17776306 17776306 insertion of <=200bp - T intron_variant BRCA-EU 9 17778284 17778284 single base substitution A T intron_variant BRCA-EU 9 17778506 17778506 single base substitution G T intron_variant BRCA-EU 9 17779114 17779114 single base substitution C T intron_variant BRCA-EU 9 17779217 17779217 single base substitution T A intron_variant BRCA-EU 9 17779807 17779807 single base substitution G T intron_variant BRCA-EU 9 17780423 17780423 single base substitution G A intron_variant BRCA-EU 9 17781393 17781393 single base substitution G A intron_variant BRCA-EU 9 17781580 17781580 single base substitution G C intron_variant BRCA-EU 9 17781895 17781895 single base substitution A C intron_variant BRCA-EU 9 17782923 17782923 single base substitution C T intron_variant BRCA-EU 9 17783257 17783275 deletion of <=200bp ATGGACTCTGCTGTTTTCC - intron_variant BRCA-EU 9 17783369 17783369 single base substitution T G intron_variant BRCA-EU 9 17783618 17783618 single base substitution A C intron_variant BRCA-EU 9 17783760 17783760 single base substitution C T intron_variant BRCA-EU 9 17784053 17784053 single base substitution G A intron_variant BRCA-EU 9 17784219 17784221 deletion of <=200bp AAG - intron_variant BRCA-EU 9 17785274 17785274 single base substitution C A intron_variant BRCA-EU 9 17786141 17786141 single base substitution A C intron_variant BRCA-EU 9 17786452 17786452 single base substitution T A synonymous_variant P40P 120T>A BRCA-EU 9 17786452 17786452 single base substitution T A synonymous_variant P87P 261T>A BRCA-EU 9 17786723 17786723 deletion of <=200bp C - intron_variant BRCA-EU 9 17786723 17786723 insertion of <=200bp - C intron_variant BRCA-EU 9 17787420 17787420 single base substitution C T missense_variant S125L 374C>T BRCA-EU 9 17787420 17787420 single base substitution C T missense_variant S78L 233C>T BRCA-EU 9 17788185 17788185 single base substitution C T intron_variant BRCA-EU 9 17788667 17788667 single base substitution G C intron_variant BRCA-EU 9 17789069 17789069 single base substitution C A intron_variant BRCA-EU 9 17789268 17789268 single base substitution G A intron_variant BRCA-EU 9 17789860 17789860 insertion of <=200bp - A intron_variant BRCA-EU 9 17789902 17789902 single base substitution A T intron_variant BRCA-EU 9 17790078 17790078 single base substitution C G intron_variant BRCA-EU 9 17790264 17790264 single base substitution A G intron_variant BRCA-EU 9 17790888 17790888 single base substitution A G intron_variant BRCA-EU 9 17791657 17791657 single base substitution C T intron_variant BRCA-EU 9 17792366 17792366 single base substitution G A intron_variant BRCA-EU 9 17792370 17792370 single base substitution C T intron_variant BRCA-EU 9 17793970 17793970 single base substitution G C intron_variant BRCA-EU 9 17794293 17794293 single base substitution A G intron_variant BRCA-EU 9 17794493 17794493 single base substitution C A intron_variant BRCA-EU 9 17795000 17795000 single base substitution C T intron_variant BRCA-EU 9 17795079 17795079 single base substitution G T intron_variant BRCA-EU 9 17795717 17795717 single base substitution A C missense_variant E298D 894A>C BRCA-EU 9 17795717 17795717 single base substitution A C missense_variant E345D 1035A>C BRCA-EU 9 17795851 17795851 single base substitution G A 3_prime_UTR_variant BRCA-EU 9 17795851 17795851 single base substitution G A downstream_gene_variant BRCA-EU 9 17796884 17796884 single base substitution G A 3_prime_UTR_variant BRCA-EU 9 17796884 17796884 single base substitution G A downstream_gene_variant BRCA-EU 9 17798783 17798783 single base substitution A C downstream_gene_variant BRCA-EU 9 17800755 17800755 single base substitution C T downstream_gene_variant BRCA-EU 9 17800847 17800847 single base substitution T C downstream_gene_variant BRCA-EU 9 17801261 17801261 single base substitution C G downstream_gene_variant BRCA-EU 9 17801346 17801346 single base substitution C G downstream_gene_variant BRCA-EU 9 17801952 17801956 deletion of <=200bp CCCCA - downstream_gene_variant BRCA-FR 9 17576125 17576125 single base substitution C T upstream_gene_variant BRCA-FR 9 17594034 17594034 single base substitution C T intron_variant BRCA-FR 9 17594496 17594496 single base substitution T C intron_variant BRCA-FR 9 17594512 17594512 single base substitution C A intron_variant BRCA-FR 9 17600482 17600482 single base substitution G A intron_variant BRCA-FR 9 17610710 17610710 single base substitution A G intron_variant BRCA-FR 9 17611538 17611538 single base substitution G A intron_variant BRCA-FR 9 17613282 17613282 single base substitution T C intron_variant BRCA-FR 9 17613609 17613609 single base substitution C G intron_variant BRCA-FR 9 17618552 17618552 single base substitution C T intron_variant BRCA-FR 9 17619505 17619505 single base substitution G A intron_variant BRCA-FR 9 17619916 17619916 single base substitution C T intron_variant BRCA-FR 9 17621754 17621754 single base substitution G C intron_variant BRCA-FR 9 17623418 17623418 single base substitution G A intron_variant BRCA-FR 9 17627248 17627248 single base substitution G A intron_variant BRCA-FR 9 17628289 17628289 single base substitution C G intron_variant BRCA-FR 9 17629059 17629059 single base substitution G A intron_variant BRCA-FR 9 17631661 17631661 single base substitution G C downstream_gene_variant BRCA-FR 9 17631661 17631661 single base substitution G C intron_variant BRCA-FR 9 17634633 17634633 single base substitution C T downstream_gene_variant BRCA-FR 9 17634633 17634633 single base substitution C T intron_variant BRCA-FR 9 17643462 17643462 single base substitution G C intron_variant BRCA-FR 9 17648290 17648290 single base substitution C T intron_variant BRCA-FR 9 17648632 17648632 single base substitution G A intron_variant BRCA-FR 9 17656961 17656961 single base substitution C T intron_variant BRCA-FR 9 17658143 17658143 single base substitution G A intron_variant BRCA-FR 9 17658545 17658545 single base substitution A T intron_variant BRCA-FR 9 17662580 17662580 single base substitution C T intron_variant BRCA-FR 9 17662933 17662933 single base substitution T A intron_variant BRCA-FR 9 17663284 17663284 single base substitution G C intron_variant BRCA-FR 9 17665323 17665323 single base substitution G C intron_variant BRCA-FR 9 17665808 17665808 single base substitution C T intron_variant BRCA-FR 9 17669323 17669323 single base substitution T C intron_variant BRCA-FR 9 17685482 17685482 single base substitution G T intron_variant BRCA-FR 9 17689035 17689035 single base substitution G C intron_variant BRCA-FR 9 17697560 17697560 single base substitution A G intron_variant BRCA-FR 9 17703593 17703593 single base substitution C G intron_variant BRCA-FR 9 17712364 17712364 single base substitution C T intron_variant BRCA-FR 9 17716174 17716174 single base substitution G C intron_variant BRCA-FR 9 17718437 17718437 single base substitution C G intron_variant BRCA-FR 9 17719552 17719552 single base substitution C T intron_variant BRCA-FR 9 17720925 17720925 single base substitution A G intron_variant BRCA-FR 9 17725131 17725131 single base substitution C T intron_variant BRCA-FR 9 17730359 17730359 single base substitution G A intron_variant BRCA-FR 9 17732581 17732581 single base substitution G T intron_variant BRCA-FR 9 17732581 17732581 single base substitution G T upstream_gene_variant BRCA-FR 9 17739681 17739681 single base substitution C T intron_variant BRCA-FR 9 17749235 17749235 single base substitution T C intron_variant BRCA-FR 9 17749361 17749361 single base substitution G A intron_variant BRCA-FR 9 17751109 17751109 single base substitution G A intron_variant BRCA-FR 9 17753077 17753077 single base substitution G A intron_variant BRCA-FR 9 17755789 17755789 single base substitution C A 5_prime_UTR_variant BRCA-FR 9 17755789 17755789 single base substitution C A intron_variant BRCA-FR 9 17758784 17758784 single base substitution C A intron_variant BRCA-FR 9 17763129 17763129 single base substitution C T intron_variant BRCA-FR 9 17764010 17764010 single base substitution G C intron_variant BRCA-FR 9 17766792 17766792 single base substitution C T intron_variant BRCA-FR 9 17775627 17775627 single base substitution T C intron_variant BRCA-FR 9 17776257 17776257 single base substitution G C intron_variant BRCA-FR 9 17777987 17777987 single base substitution C A intron_variant BRCA-FR 9 17778506 17778506 single base substitution G T intron_variant BRCA-FR 9 17779807 17779807 single base substitution G T intron_variant BRCA-FR 9 17784053 17784053 single base substitution G A intron_variant BRCA-FR 9 17786452 17786452 single base substitution T A synonymous_variant P40P 120T>A BRCA-FR 9 17786452 17786452 single base substitution T A synonymous_variant P87P 261T>A BRCA-FR 9 17786501 17786501 single base substitution C T missense_variant L104F 310C>T BRCA-FR 9 17786501 17786501 single base substitution C T missense_variant L57F 169C>T BRCA-FR 9 17795079 17795079 single base substitution G T intron_variant BRCA-FR 9 17795717 17795717 single base substitution A C missense_variant E298D 894A>C BRCA-FR 9 17795717 17795717 single base substitution A C missense_variant E345D 1035A>C BRCA-FR 9 17800847 17800847 single base substitution T C downstream_gene_variant BRCA-UK 9 17588429 17588429 single base substitution C T intron_variant BRCA-UK 9 17603097 17603097 single base substitution A G intron_variant BRCA-UK 9 17613381 17613381 single base substitution G A intron_variant BRCA-UK 9 17613680 17613680 single base substitution C T intron_variant BRCA-UK 9 17613681 17613681 single base substitution T A intron_variant BRCA-UK 9 17617893 17617893 single base substitution A G intron_variant BRCA-UK 9 17621569 17621569 single base substitution G A intron_variant BRCA-UK 9 17629977 17629977 single base substitution G A intron_variant BRCA-UK 9 17634853 17634853 single base substitution A G downstream_gene_variant BRCA-UK 9 17634853 17634853 single base substitution A G intron_variant BRCA-UK 9 17657617 17657617 single base substitution G A intron_variant BRCA-UK 9 17662424 17662424 single base substitution G A intron_variant BRCA-UK 9 17690028 17690028 single base substitution C G intron_variant BRCA-UK 9 17706450 17706450 single base substitution C G intron_variant BRCA-UK 9 17766795 17766795 single base substitution T C intron_variant BRCA-UK 9 17801952 17801956 deletion of <=200bp CCCCA - downstream_gene_variant BRCA-UK 9 17802030 17802030 single base substitution G C downstream_gene_variant BRCA-US 9 17747112 17747112 single base substitution G A 5_prime_UTR_variant BRCA-US 9 17747112 17747112 single base substitution G A missense_variant D32N 94G>A BRCA-US 9 17761476 17761476 single base substitution T A synonymous_variant T52T 156T>A BRCA-US 9 17761476 17761476 single base substitution T A synonymous_variant T5T 15T>A BRCA-US 9 17787384 17787384 single base substitution C T missense_variant A113V 338C>T BRCA-US 9 17787384 17787384 single base substitution C T missense_variant A66V 197C>T BRCA-US 9 17795652 17795652 single base substitution G A missense_variant D277N 829G>A BRCA-US 9 17795652 17795652 single base substitution G A missense_variant D324N 970G>A BTCA-JP 9 17781785 17781785 single base substitution C A intron_variant BTCA-JP 9 17781884 17781884 single base substitution C A intron_variant BTCA-JP 9 17786485 17786485 single base substitution C G synonymous_variant L51L 153C>G BTCA-JP 9 17786485 17786485 single base substitution C G synonymous_variant L98L 294C>G BTCA-JP 9 17787588 17787588 deletion of <=200bp T - intron_variant CLLE-ES 9 17574148 17574148 single base substitution T G upstream_gene_variant CLLE-ES 9 17582237 17582237 single base substitution A G intron_variant CLLE-ES 9 17583207 17583207 single base substitution G T intron_variant CLLE-ES 9 17585010 17585010 single base substitution T G intron_variant CLLE-ES 9 17589943 17589943 single base substitution C G intron_variant CLLE-ES 9 17590782 17590782 single base substitution T G intron_variant CLLE-ES 9 17597060 17597060 single base substitution G A intron_variant CLLE-ES 9 17597290 17597290 single base substitution C T intron_variant CLLE-ES 9 17597608 17597608 single base substitution T A intron_variant CLLE-ES 9 17602344 17602344 single base substitution A T intron_variant CLLE-ES 9 17609435 17609435 single base substitution G A intron_variant CLLE-ES 9 17611085 17611085 single base substitution G T intron_variant CLLE-ES 9 17614295 17614295 single base substitution A G intron_variant CLLE-ES 9 17624024 17624024 single base substitution C T intron_variant CLLE-ES 9 17627657 17627657 single base substitution G A intron_variant CLLE-ES 9 17628971 17628971 single base substitution A T intron_variant CLLE-ES 9 17631796 17631796 single base substitution G A downstream_gene_variant CLLE-ES 9 17631796 17631796 single base substitution G A intron_variant CLLE-ES 9 17641814 17641814 single base substitution A G intron_variant CLLE-ES 9 17643379 17643379 single base substitution T A intron_variant CLLE-ES 9 17646853 17646854 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant CLLE-ES 9 17656277 17656277 single base substitution A T intron_variant CLLE-ES 9 17656747 17656747 single base substitution C G intron_variant CLLE-ES 9 17663232 17663232 single base substitution A C intron_variant CLLE-ES 9 17666866 17666866 single base substitution C T intron_variant CLLE-ES 9 17668409 17668409 single base substitution G A intron_variant CLLE-ES 9 17677195 17677195 single base substitution G T intron_variant CLLE-ES 9 17683579 17683579 single base substitution C T intron_variant CLLE-ES 9 17684670 17684670 single base substitution T A intron_variant CLLE-ES 9 17684720 17684720 single base substitution A T intron_variant CLLE-ES 9 17685203 17685203 single base substitution C G intron_variant CLLE-ES 9 17705829 17705829 single base substitution G A intron_variant CLLE-ES 9 17717311 17717311 single base substitution G A intron_variant CLLE-ES 9 17727959 17727959 single base substitution G C intron_variant CLLE-ES 9 17734772 17734772 single base substitution T A intron_variant CLLE-ES 9 17734772 17734772 single base substitution T A upstream_gene_variant CLLE-ES 9 17735050 17735050 single base substitution T C intron_variant CLLE-ES 9 17735050 17735050 single base substitution T C upstream_gene_variant CLLE-ES 9 17742250 17742250 single base substitution C A intron_variant CLLE-ES 9 17750751 17750751 single base substitution C A intron_variant CLLE-ES 9 17754369 17754369 single base substitution T A intron_variant CLLE-ES 9 17761302 17761302 single base substitution G A intron_variant CLLE-ES 9 17763657 17763657 single base substitution C A intron_variant CLLE-ES 9 17767953 17767953 single base substitution C A intron_variant CLLE-ES 9 17776095 17776095 single base substitution T A intron_variant CLLE-ES 9 17780380 17780380 single base substitution G A intron_variant CLLE-ES 9 17783849 17783849 single base substitution C A intron_variant CLLE-ES 9 17790022 17790022 single base substitution A G intron_variant CLLE-ES 9 17791943 17791943 single base substitution T A intron_variant COAD-US 9 17761458 17761458 single base substitution T A 5_prime_UTR_variant COAD-US 9 17761458 17761458 single base substitution T A synonymous_variant A46A 138T>A COAD-US 9 17793415 17793415 single base substitution G A missense_variant R213Q 638G>A COAD-US 9 17793415 17793415 single base substitution G A missense_variant R260Q 779G>A COAD-US 9 17793465 17793465 single base substitution C T missense_variant L230F 688C>T COAD-US 9 17793465 17793465 single base substitution C T missense_variant L277F 829C>T COAD-US 9 17795623 17795623 single base substitution G A missense_variant G267D 800G>A COAD-US 9 17795623 17795623 single base substitution G A missense_variant G314D 941G>A COAD-US 9 17795639 17795639 single base substitution C A synonymous_variant L272L 816C>A COAD-US 9 17795639 17795639 single base substitution C A synonymous_variant L319L 957C>A COCA-CN 9 17575062 17575062 single base substitution T A upstream_gene_variant COCA-CN 9 17575088 17575088 single base substitution A T upstream_gene_variant COCA-CN 9 17604134 17604134 single base substitution C T intron_variant COCA-CN 9 17607587 17607587 single base substitution A G intron_variant COCA-CN 9 17608290 17608290 single base substitution C T intron_variant COCA-CN 9 17619255 17619255 single base substitution T G intron_variant COCA-CN 9 17620497 17620497 single base substitution G A intron_variant COCA-CN 9 17623000 17623000 single base substitution T G intron_variant COCA-CN 9 17644628 17644628 single base substitution G T intron_variant COCA-CN 9 17656295 17656295 single base substitution A G intron_variant COCA-CN 9 17660228 17660228 single base substitution A T intron_variant COCA-CN 9 17660764 17660764 single base substitution C T intron_variant COCA-CN 9 17673528 17673528 single base substitution G T intron_variant COCA-CN 9 17677676 17677676 single base substitution G A intron_variant COCA-CN 9 17686198 17686198 single base substitution A G intron_variant COCA-CN 9 17688728 17688728 single base substitution G T intron_variant COCA-CN 9 17713434 17713434 single base substitution T G intron_variant COCA-CN 9 17713502 17713502 single base substitution A C intron_variant COCA-CN 9 17714414 17714414 single base substitution G C intron_variant COCA-CN 9 17741563 17741563 single base substitution G C intron_variant COCA-CN 9 17745878 17745878 single base substitution C T intron_variant COCA-CN 9 17746850 17746850 single base substitution G A intron_variant COCA-CN 9 17752135 17752135 single base substitution A C intron_variant COCA-CN 9 17765082 17765082 single base substitution T C intron_variant COCA-CN 9 17765255 17765255 single base substitution T A intron_variant COCA-CN 9 17765272 17765272 single base substitution G C intron_variant COCA-CN 9 17768051 17768051 single base substitution G A intron_variant COCA-CN 9 17774357 17774357 single base substitution C T intron_variant COCA-CN 9 17795624 17795624 single base substitution C T synonymous_variant G267G 801C>T COCA-CN 9 17795624 17795624 single base substitution C T synonymous_variant G314G 942C>T COCA-CN 9 17795625 17795625 single base substitution G T missense_variant D268Y 802G>T COCA-CN 9 17795625 17795625 single base substitution G T missense_variant D315Y 943G>T COCA-CN 9 17797477 17797477 single base substitution C T downstream_gene_variant EOPC-DE 9 17600428 17600428 single base substitution C T intron_variant EOPC-DE 9 17622995 17622995 single base substitution T G intron_variant EOPC-DE 9 17626817 17626817 single base substitution G A intron_variant EOPC-DE 9 17635354 17635354 single base substitution T A downstream_gene_variant EOPC-DE 9 17635354 17635354 single base substitution T A intron_variant EOPC-DE 9 17687512 17687512 single base substitution A G intron_variant EOPC-DE 9 17703006 17703006 single base substitution C T intron_variant ESAD-UK 9 17574402 17574402 single base substitution G A upstream_gene_variant ESAD-UK 9 17574864 17574864 single base substitution T G upstream_gene_variant ESAD-UK 9 17575316 17575316 single base substitution C A upstream_gene_variant ESAD-UK 9 17577639 17577639 single base substitution A C upstream_gene_variant ESAD-UK 9 17578627 17578627 single base substitution G T upstream_gene_variant ESAD-UK 9 17578691 17578691 single base substitution C A upstream_gene_variant ESAD-UK 9 17578709 17578709 single base substitution C A upstream_gene_variant ESAD-UK 9 17578998 17579026 deletion of <=200bp GCGTTCCCGCGCTTGGGGCGGGGCTTCCC - upstream_gene_variant ESAD-UK 9 17580174 17580174 single base substitution G C intron_variant ESAD-UK 9 17580287 17580287 single base substitution G A intron_variant ESAD-UK 9 17580353 17580353 single base substitution A T intron_variant ESAD-UK 9 17580471 17580471 single base substitution C T intron_variant ESAD-UK 9 17580763 17580763 single base substitution A T intron_variant ESAD-UK 9 17581539 17581539 deletion of <=200bp A - intron_variant ESAD-UK 9 17581911 17581911 single base substitution G T intron_variant ESAD-UK 9 17582446 17582446 single base substitution A C intron_variant ESAD-UK 9 17582837 17582837 single base substitution T C intron_variant ESAD-UK 9 17583175 17583175 single base substitution T G intron_variant ESAD-UK 9 17583664 17583664 single base substitution A G intron_variant ESAD-UK 9 17583747 17583747 single base substitution T G intron_variant ESAD-UK 9 17584137 17584137 single base substitution A C intron_variant ESAD-UK 9 17584205 17584205 single base substitution A T intron_variant ESAD-UK 9 17585355 17585355 single base substitution A C intron_variant ESAD-UK 9 17585630 17585630 single base substitution G C intron_variant ESAD-UK 9 17586628 17586628 single base substitution A G intron_variant ESAD-UK 9 17586911 17586911 single base substitution G A intron_variant ESAD-UK 9 17587186 17587186 single base substitution C A intron_variant ESAD-UK 9 17587393 17587393 single base substitution G C intron_variant ESAD-UK 9 17588776 17588776 single base substitution T C intron_variant ESAD-UK 9 17588807 17588807 single base substitution T G intron_variant ESAD-UK 9 17588848 17588848 single base substitution G T intron_variant ESAD-UK 9 17588986 17588986 single base substitution A G intron_variant ESAD-UK 9 17589157 17589157 single base substitution T G intron_variant ESAD-UK 9 17589304 17589304 single base substitution A G intron_variant ESAD-UK 9 17589457 17589457 single base substitution T A intron_variant ESAD-UK 9 17589708 17589708 single base substitution G T intron_variant ESAD-UK 9 17589816 17589816 single base substitution G T intron_variant ESAD-UK 9 17589897 17589897 single base substitution T A intron_variant ESAD-UK 9 17589934 17589934 single base substitution G T intron_variant ESAD-UK 9 17590324 17590324 single base substitution G T intron_variant ESAD-UK 9 17590343 17590343 single base substitution C G intron_variant ESAD-UK 9 17590569 17590569 single base substitution A G intron_variant ESAD-UK 9 17590617 17590617 single base substitution T A intron_variant ESAD-UK 9 17590741 17590741 single base substitution T G intron_variant ESAD-UK 9 17590937 17590937 single base substitution T C intron_variant ESAD-UK 9 17591091 17591091 single base substitution A G intron_variant ESAD-UK 9 17591327 17591327 single base substitution T A intron_variant ESAD-UK 9 17591601 17591601 deletion of <=200bp G - intron_variant ESAD-UK 9 17592163 17592163 single base substitution A G intron_variant ESAD-UK 9 17592204 17592204 single base substitution A C intron_variant ESAD-UK 9 17592208 17592208 single base substitution T A intron_variant ESAD-UK 9 17592734 17592734 insertion of <=200bp - A intron_variant ESAD-UK 9 17593493 17593493 single base substitution T G intron_variant ESAD-UK 9 17593836 17593836 single base substitution A T intron_variant ESAD-UK 9 17593932 17593932 single base substitution T G intron_variant ESAD-UK 9 17594377 17594377 single base substitution A G intron_variant ESAD-UK 9 17594721 17594721 single base substitution T G intron_variant ESAD-UK 9 17595473 17595473 single base substitution T A intron_variant ESAD-UK 9 17595889 17595889 deletion of <=200bp T - intron_variant ESAD-UK 9 17596357 17596357 single base substitution C A intron_variant ESAD-UK 9 17596366 17596366 single base substitution T G intron_variant ESAD-UK 9 17596550 17596550 single base substitution A C intron_variant ESAD-UK 9 17597287 17597287 single base substitution A G intron_variant ESAD-UK 9 17597815 17597815 deletion of <=200bp A - intron_variant ESAD-UK 9 17597815 17597815 single base substitution A G intron_variant ESAD-UK 9 17598079 17598079 single base substitution G T intron_variant ESAD-UK 9 17598401 17598401 single base substitution T G intron_variant ESAD-UK 9 17598820 17598820 single base substitution T C intron_variant ESAD-UK 9 17598972 17598972 single base substitution G T intron_variant ESAD-UK 9 17599751 17599751 single base substitution C T intron_variant ESAD-UK 9 17600302 17600302 single base substitution T G intron_variant ESAD-UK 9 17600591 17600591 single base substitution C G intron_variant ESAD-UK 9 17600904 17600904 single base substitution A T intron_variant ESAD-UK 9 17601147 17601147 single base substitution T C intron_variant ESAD-UK 9 17601354 17601354 single base substitution A C intron_variant ESAD-UK 9 17601644 17601644 single base substitution A T intron_variant ESAD-UK 9 17601697 17601697 single base substitution A C intron_variant ESAD-UK 9 17601741 17601741 single base substitution T G intron_variant ESAD-UK 9 17601796 17601796 single base substitution T G intron_variant ESAD-UK 9 17601883 17601883 single base substitution A C intron_variant ESAD-UK 9 17601883 17601883 single base substitution A T intron_variant ESAD-UK 9 17602007 17602007 single base substitution A G intron_variant ESAD-UK 9 17602033 17602033 single base substitution T G intron_variant ESAD-UK 9 17602557 17602557 single base substitution T C intron_variant ESAD-UK 9 17602588 17602588 single base substitution C T intron_variant ESAD-UK 9 17602661 17602661 single base substitution A C intron_variant ESAD-UK 9 17603005 17603005 single base substitution A T intron_variant ESAD-UK 9 17603818 17603818 single base substitution G A intron_variant ESAD-UK 9 17604057 17604057 single base substitution G T intron_variant ESAD-UK 9 17604631 17604631 single base substitution T C intron_variant ESAD-UK 9 17605494 17605494 single base substitution A G intron_variant ESAD-UK 9 17605671 17605671 single base substitution G T intron_variant ESAD-UK 9 17606460 17606460 single base substitution G C intron_variant ESAD-UK 9 17606480 17606480 single base substitution A C intron_variant ESAD-UK 9 17606480 17606480 single base substitution A G intron_variant ESAD-UK 9 17607555 17607555 single base substitution T G intron_variant ESAD-UK 9 17608336 17608336 single base substitution G T intron_variant ESAD-UK 9 17608552 17608552 single base substitution A G intron_variant ESAD-UK 9 17610001 17610001 single base substitution C A intron_variant ESAD-UK 9 17610215 17610215 single base substitution G A intron_variant ESAD-UK 9 17610642 17610642 single base substitution T G intron_variant ESAD-UK 9 17610777 17610777 single base substitution A G intron_variant ESAD-UK 9 17610984 17610984 single base substitution C A intron_variant ESAD-UK 9 17611598 17611598 single base substitution A G intron_variant ESAD-UK 9 17611856 17611856 single base substitution G T intron_variant ESAD-UK 9 17612580 17612580 deletion of <=200bp T - intron_variant ESAD-UK 9 17612738 17612738 single base substitution C T intron_variant ESAD-UK 9 17612758 17612758 single base substitution A C intron_variant ESAD-UK 9 17613058 17613058 single base substitution A G intron_variant ESAD-UK 9 17613069 17613069 single base substitution A T intron_variant ESAD-UK 9 17613223 17613223 single base substitution A C intron_variant ESAD-UK 9 17613396 17613396 single base substitution T C intron_variant ESAD-UK 9 17613854 17613854 single base substitution T G intron_variant ESAD-UK 9 17614060 17614060 single base substitution C G intron_variant ESAD-UK 9 17614883 17614883 single base substitution A C intron_variant ESAD-UK 9 17614902 17614902 single base substitution T C intron_variant ESAD-UK 9 17615109 17615109 single base substitution A C intron_variant ESAD-UK 9 17615525 17615525 single base substitution C T intron_variant ESAD-UK 9 17615963 17615963 single base substitution T G intron_variant ESAD-UK 9 17616007 17616007 single base substitution G C intron_variant ESAD-UK 9 17616932 17616932 single base substitution C A intron_variant ESAD-UK 9 17617043 17617043 single base substitution T G intron_variant ESAD-UK 9 17617240 17617240 single base substitution C G intron_variant ESAD-UK 9 17617419 17617419 single base substitution A C intron_variant ESAD-UK 9 17617563 17617563 single base substitution A C intron_variant ESAD-UK 9 17617570 17617570 single base substitution G T intron_variant ESAD-UK 9 17617775 17617775 single base substitution A G intron_variant ESAD-UK 9 17617934 17617934 single base substitution T A intron_variant ESAD-UK 9 17617972 17617972 single base substitution T C intron_variant ESAD-UK 9 17618730 17618730 single base substitution T G intron_variant ESAD-UK 9 17618776 17618776 single base substitution C T intron_variant ESAD-UK 9 17619056 17619056 single base substitution C T intron_variant ESAD-UK 9 17619063 17619063 single base substitution T C intron_variant ESAD-UK 9 17619108 17619108 single base substitution A G intron_variant ESAD-UK 9 17619389 17619389 single base substitution G T intron_variant ESAD-UK 9 17619556 17619556 single base substitution A C intron_variant ESAD-UK 9 17619568 17619568 single base substitution C T intron_variant ESAD-UK 9 17620032 17620032 single base substitution A C intron_variant ESAD-UK 9 17620624 17620624 single base substitution A G intron_variant ESAD-UK 9 17620789 17620789 single base substitution G A intron_variant ESAD-UK 9 17621068 17621068 single base substitution A C intron_variant ESAD-UK 9 17621543 17621543 single base substitution A C intron_variant ESAD-UK 9 17621645 17621645 single base substitution A C intron_variant ESAD-UK 9 17621725 17621725 single base substitution T A intron_variant ESAD-UK 9 17622214 17622214 single base substitution G A intron_variant ESAD-UK 9 17624567 17624567 single base substitution G A intron_variant ESAD-UK 9 17624694 17624694 single base substitution T G intron_variant ESAD-UK 9 17625119 17625119 single base substitution G A intron_variant ESAD-UK 9 17625139 17625139 deletion of <=200bp T - intron_variant ESAD-UK 9 17625156 17625156 single base substitution G A intron_variant ESAD-UK 9 17625412 17625412 single base substitution T C intron_variant ESAD-UK 9 17625412 17625412 single base substitution T G intron_variant ESAD-UK 9 17626035 17626035 single base substitution T C intron_variant ESAD-UK 9 17626490 17626490 single base substitution A G intron_variant ESAD-UK 9 17627090 17627090 single base substitution T G intron_variant ESAD-UK 9 17627380 17627380 single base substitution T C intron_variant ESAD-UK 9 17627777 17627777 single base substitution G A intron_variant ESAD-UK 9 17628623 17628623 insertion of <=200bp - T intron_variant ESAD-UK 9 17628627 17628627 single base substitution T C intron_variant ESAD-UK 9 17628857 17628857 single base substitution C T intron_variant ESAD-UK 9 17628957 17628957 single base substitution A T intron_variant ESAD-UK 9 17629514 17629514 single base substitution T C intron_variant ESAD-UK 9 17629572 17629572 single base substitution A C intron_variant ESAD-UK 9 17629631 17629631 single base substitution G T intron_variant ESAD-UK 9 17629696 17629696 single base substitution G T intron_variant ESAD-UK 9 17629728 17629728 single base substitution T G intron_variant ESAD-UK 9 17629750 17629750 single base substitution T G intron_variant ESAD-UK 9 17629819 17629819 single base substitution A G intron_variant ESAD-UK 9 17629872 17629872 single base substitution T G intron_variant ESAD-UK 9 17629976 17629976 single base substitution C T intron_variant ESAD-UK 9 17630519 17630519 single base substitution T C downstream_gene_variant ESAD-UK 9 17630519 17630519 single base substitution T C intron_variant ESAD-UK 9 17630564 17630564 deletion of <=200bp T - downstream_gene_variant ESAD-UK 9 17630564 17630564 deletion of <=200bp T - intron_variant ESAD-UK 9 17630652 17630652 single base substitution A G downstream_gene_variant ESAD-UK 9 17630652 17630652 single base substitution A G intron_variant ESAD-UK 9 17630775 17630775 single base substitution G T downstream_gene_variant ESAD-UK 9 17630775 17630775 single base substitution G T intron_variant ESAD-UK 9 17631495 17631495 single base substitution C A downstream_gene_variant ESAD-UK 9 17631495 17631495 single base substitution C A intron_variant ESAD-UK 9 17631630 17631630 single base substitution T C downstream_gene_variant ESAD-UK 9 17631630 17631630 single base substitution T C intron_variant ESAD-UK 9 17631963 17631963 single base substitution A T downstream_gene_variant ESAD-UK 9 17631963 17631963 single base substitution A T intron_variant ESAD-UK 9 17632055 17632055 single base substitution T G downstream_gene_variant ESAD-UK 9 17632055 17632055 single base substitution T G intron_variant ESAD-UK 9 17632241 17632241 single base substitution T G downstream_gene_variant ESAD-UK 9 17632241 17632241 single base substitution T G intron_variant ESAD-UK 9 17632433 17632433 single base substitution C A downstream_gene_variant ESAD-UK 9 17632433 17632433 single base substitution C A intron_variant ESAD-UK 9 17633212 17633212 single base substitution G T downstream_gene_variant ESAD-UK 9 17633212 17633212 single base substitution G T intron_variant ESAD-UK 9 17633659 17633659 single base substitution G T downstream_gene_variant ESAD-UK 9 17633659 17633659 single base substitution G T intron_variant ESAD-UK 9 17633719 17633719 single base substitution G T downstream_gene_variant ESAD-UK 9 17633719 17633719 single base substitution G T intron_variant ESAD-UK 9 17633962 17633962 single base substitution T G downstream_gene_variant ESAD-UK 9 17633962 17633962 single base substitution T G intron_variant ESAD-UK 9 17634215 17634215 single base substitution T G downstream_gene_variant ESAD-UK 9 17634215 17634215 single base substitution T G intron_variant ESAD-UK 9 17634245 17634245 single base substitution T C downstream_gene_variant ESAD-UK 9 17634245 17634245 single base substitution T C intron_variant ESAD-UK 9 17634790 17634790 single base substitution T C downstream_gene_variant ESAD-UK 9 17634790 17634790 single base substitution T C intron_variant ESAD-UK 9 17634809 17634809 single base substitution A C downstream_gene_variant ESAD-UK 9 17634809 17634809 single base substitution A C intron_variant ESAD-UK 9 17635288 17635288 single base substitution A G downstream_gene_variant ESAD-UK 9 17635288 17635288 single base substitution A G intron_variant ESAD-UK 9 17635366 17635366 single base substitution T C downstream_gene_variant ESAD-UK 9 17635366 17635366 single base substitution T C intron_variant ESAD-UK 9 17635416 17635416 single base substitution T G downstream_gene_variant ESAD-UK 9 17635416 17635416 single base substitution T G intron_variant ESAD-UK 9 17635616 17635616 single base substitution T A intron_variant ESAD-UK 9 17635616 17635616 single base substitution T G intron_variant ESAD-UK 9 17635835 17635835 single base substitution A C intron_variant ESAD-UK 9 17635835 17635835 single base substitution A G intron_variant ESAD-UK 9 17635936 17635936 single base substitution A C intron_variant ESAD-UK 9 17635936 17635936 single base substitution A T intron_variant ESAD-UK 9 17636400 17636400 single base substitution G T intron_variant ESAD-UK 9 17636427 17636427 single base substitution G A intron_variant ESAD-UK 9 17636515 17636515 single base substitution T C intron_variant ESAD-UK 9 17636597 17636597 single base substitution T C intron_variant ESAD-UK 9 17636970 17636970 single base substitution C T intron_variant ESAD-UK 9 17637088 17637088 single base substitution A C intron_variant ESAD-UK 9 17637323 17637323 single base substitution G A intron_variant ESAD-UK 9 17637472 17637472 single base substitution A G intron_variant ESAD-UK 9 17637478 17637478 single base substitution T A intron_variant ESAD-UK 9 17637803 17637803 single base substitution T C intron_variant ESAD-UK 9 17638911 17638911 single base substitution T A intron_variant ESAD-UK 9 17639128 17639128 single base substitution T G intron_variant ESAD-UK 9 17639848 17639848 single base substitution A C intron_variant ESAD-UK 9 17639971 17639971 single base substitution T G intron_variant ESAD-UK 9 17640358 17640358 deletion of <=200bp T - intron_variant ESAD-UK 9 17640363 17640363 single base substitution T G intron_variant ESAD-UK 9 17640364 17640364 single base substitution T C intron_variant ESAD-UK 9 17640696 17640696 single base substitution G A intron_variant ESAD-UK 9 17640783 17640783 single base substitution T A intron_variant ESAD-UK 9 17641115 17641115 single base substitution T G intron_variant ESAD-UK 9 17641208 17641208 single base substitution T G intron_variant ESAD-UK 9 17642171 17642171 single base substitution G A intron_variant ESAD-UK 9 17642271 17642271 single base substitution G A intron_variant ESAD-UK 9 17642354 17642354 single base substitution T C intron_variant ESAD-UK 9 17642397 17642397 single base substitution T G intron_variant ESAD-UK 9 17642461 17642461 single base substitution T G intron_variant ESAD-UK 9 17642580 17642580 single base substitution T G intron_variant ESAD-UK 9 17643449 17643449 single base substitution G A intron_variant ESAD-UK 9 17643475 17643475 single base substitution T C intron_variant ESAD-UK 9 17643816 17643816 single base substitution T G intron_variant ESAD-UK 9 17643870 17643870 single base substitution T G intron_variant ESAD-UK 9 17644397 17644397 single base substitution A G intron_variant ESAD-UK 9 17644542 17644542 single base substitution A C intron_variant ESAD-UK 9 17644639 17644639 single base substitution G T intron_variant ESAD-UK 9 17644703 17644703 single base substitution C T intron_variant ESAD-UK 9 17644705 17644705 insertion of <=200bp - T intron_variant ESAD-UK 9 17645541 17645541 single base substitution A G intron_variant ESAD-UK 9 17646343 17646343 single base substitution T G intron_variant ESAD-UK 9 17646492 17646492 single base substitution T A intron_variant ESAD-UK 9 17646830 17646830 single base substitution C G intron_variant ESAD-UK 9 17646867 17646867 single base substitution G A intron_variant ESAD-UK 9 17647125 17647125 single base substitution A C intron_variant ESAD-UK 9 17647206 17647206 single base substitution A G intron_variant ESAD-UK 9 17648074 17648074 single base substitution A G intron_variant ESAD-UK 9 17648234 17648234 single base substitution T G intron_variant ESAD-UK 9 17648421 17648421 single base substitution A G intron_variant ESAD-UK 9 17648421 17648421 single base substitution A T intron_variant ESAD-UK 9 17648452 17648452 single base substitution A C intron_variant ESAD-UK 9 17648548 17648548 single base substitution T G intron_variant ESAD-UK 9 17648633 17648633 single base substitution A T intron_variant ESAD-UK 9 17648643 17648643 single base substitution T C intron_variant ESAD-UK 9 17648844 17648844 single base substitution A C intron_variant ESAD-UK 9 17648977 17648977 single base substitution G C intron_variant ESAD-UK 9 17649310 17649310 single base substitution C A intron_variant ESAD-UK 9 17649529 17649529 single base substitution A C intron_variant ESAD-UK 9 17649947 17649947 single base substitution T G intron_variant ESAD-UK 9 17650437 17650437 single base substitution T A intron_variant ESAD-UK 9 17651108 17651108 single base substitution T G intron_variant ESAD-UK 9 17651392 17651392 single base substitution G A intron_variant ESAD-UK 9 17651838 17651838 single base substitution T G intron_variant ESAD-UK 9 17652260 17652260 single base substitution T G intron_variant ESAD-UK 9 17652387 17652387 single base substitution T G intron_variant ESAD-UK 9 17652437 17652437 single base substitution T G intron_variant ESAD-UK 9 17652511 17652511 single base substitution A G intron_variant ESAD-UK 9 17653334 17653334 single base substitution T G intron_variant ESAD-UK 9 17653429 17653429 single base substitution A G intron_variant ESAD-UK 9 17653513 17653513 single base substitution T C intron_variant ESAD-UK 9 17653641 17653641 single base substitution A C intron_variant ESAD-UK 9 17654314 17654314 single base substitution T A intron_variant ESAD-UK 9 17654492 17654492 single base substitution A G intron_variant ESAD-UK 9 17654748 17654748 single base substitution A C intron_variant ESAD-UK 9 17655275 17655275 single base substitution A C intron_variant ESAD-UK 9 17655563 17655563 single base substitution C T intron_variant ESAD-UK 9 17655946 17655946 single base substitution C T intron_variant ESAD-UK 9 17655947 17655947 single base substitution T G intron_variant ESAD-UK 9 17656007 17656007 deletion of <=200bp T - intron_variant ESAD-UK 9 17656609 17656609 single base substitution G T intron_variant ESAD-UK 9 17656811 17656811 single base substitution T C intron_variant ESAD-UK 9 17657236 17657236 single base substitution T G intron_variant ESAD-UK 9 17657389 17657389 single base substitution T G intron_variant ESAD-UK 9 17657540 17657540 single base substitution C G intron_variant ESAD-UK 9 17658111 17658111 single base substitution G T intron_variant ESAD-UK 9 17658157 17658157 single base substitution T C intron_variant ESAD-UK 9 17658288 17658288 single base substitution T C intron_variant ESAD-UK 9 17658453 17658453 single base substitution T C intron_variant ESAD-UK 9 17659376 17659376 single base substitution A C intron_variant ESAD-UK 9 17659552 17659552 single base substitution C T intron_variant ESAD-UK 9 17659595 17659595 single base substitution G A intron_variant ESAD-UK 9 17659643 17659643 single base substitution A C intron_variant ESAD-UK 9 17659749 17659749 single base substitution A G intron_variant ESAD-UK 9 17659830 17659830 single base substitution C T intron_variant ESAD-UK 9 17661627 17661627 single base substitution A G intron_variant ESAD-UK 9 17661897 17661897 single base substitution T G intron_variant ESAD-UK 9 17661966 17661966 insertion of <=200bp - T intron_variant ESAD-UK 9 17662020 17662020 single base substitution T G intron_variant ESAD-UK 9 17662773 17662773 single base substitution C A intron_variant ESAD-UK 9 17662857 17662857 single base substitution G A intron_variant ESAD-UK 9 17662929 17662929 single base substitution C A intron_variant ESAD-UK 9 17663168 17663168 single base substitution A G intron_variant ESAD-UK 9 17663526 17663526 single base substitution T C intron_variant ESAD-UK 9 17663543 17663543 single base substitution A T intron_variant ESAD-UK 9 17663729 17663729 single base substitution G T intron_variant ESAD-UK 9 17664190 17664190 single base substitution T G intron_variant ESAD-UK 9 17664271 17664271 single base substitution C A intron_variant ESAD-UK 9 17664319 17664319 single base substitution T G intron_variant ESAD-UK 9 17664606 17664606 single base substitution A G intron_variant ESAD-UK 9 17664964 17664964 single base substitution C G intron_variant ESAD-UK 9 17665168 17665168 single base substitution C T intron_variant ESAD-UK 9 17665441 17665441 single base substitution T C intron_variant ESAD-UK 9 17665587 17665587 single base substitution T C intron_variant ESAD-UK 9 17665682 17665682 single base substitution T G intron_variant ESAD-UK 9 17666232 17666232 single base substitution T C intron_variant ESAD-UK 9 17666577 17666577 insertion of <=200bp - TA intron_variant ESAD-UK 9 17666577 17666577 insertion of <=200bp - TGTA intron_variant ESAD-UK 9 17666637 17666637 single base substitution A G intron_variant ESAD-UK 9 17666717 17666717 single base substitution A C intron_variant ESAD-UK 9 17667681 17667681 single base substitution C A intron_variant ESAD-UK 9 17667727 17667727 single base substitution C A intron_variant ESAD-UK 9 17667812 17667812 single base substitution T G intron_variant ESAD-UK 9 17668635 17668635 single base substitution T G intron_variant ESAD-UK 9 17669274 17669274 single base substitution T C intron_variant ESAD-UK 9 17669721 17669721 single base substitution T G intron_variant ESAD-UK 9 17669736 17669736 single base substitution A C intron_variant ESAD-UK 9 17669821 17669821 single base substitution T G intron_variant ESAD-UK 9 17669868 17669868 single base substitution A G intron_variant ESAD-UK 9 17669869 17669869 single base substitution A C intron_variant ESAD-UK 9 17669883 17669883 single base substitution A C intron_variant ESAD-UK 9 17670916 17670916 single base substitution A C intron_variant ESAD-UK 9 17670965 17670965 single base substitution C A intron_variant ESAD-UK 9 17670990 17670990 single base substitution T G intron_variant ESAD-UK 9 17671407 17671407 single base substitution T G intron_variant ESAD-UK 9 17671640 17671640 single base substitution T A intron_variant ESAD-UK 9 17672119 17672119 single base substitution A G intron_variant ESAD-UK 9 17672444 17672444 single base substitution A C intron_variant ESAD-UK 9 17672510 17672510 single base substitution T G intron_variant ESAD-UK 9 17672535 17672535 single base substitution T A intron_variant ESAD-UK 9 17672684 17672684 single base substitution A C intron_variant ESAD-UK 9 17672691 17672691 single base substitution G C intron_variant ESAD-UK 9 17673389 17673389 single base substitution A C intron_variant ESAD-UK 9 17673610 17673610 single base substitution G A intron_variant ESAD-UK 9 17673848 17673848 single base substitution T C intron_variant ESAD-UK 9 17673856 17673856 single base substitution A G intron_variant ESAD-UK 9 17674224 17674224 single base substitution T G intron_variant ESAD-UK 9 17674250 17674250 single base substitution T C intron_variant ESAD-UK 9 17674276 17674276 deletion of <=200bp T - intron_variant ESAD-UK 9 17674363 17674363 single base substitution C G intron_variant ESAD-UK 9 17674841 17674841 single base substitution A G intron_variant ESAD-UK 9 17675891 17675891 single base substitution T C intron_variant ESAD-UK 9 17676371 17676371 single base substitution A C intron_variant ESAD-UK 9 17676389 17676389 single base substitution A C intron_variant ESAD-UK 9 17676424 17676424 single base substitution T C intron_variant ESAD-UK 9 17676623 17676623 single base substitution A G intron_variant ESAD-UK 9 17676624 17676624 single base substitution A C intron_variant ESAD-UK 9 17676678 17676678 single base substitution T A intron_variant ESAD-UK 9 17677588 17677588 single base substitution T G intron_variant ESAD-UK 9 17678768 17678768 single base substitution A G intron_variant ESAD-UK 9 17680877 17680877 single base substitution C T intron_variant ESAD-UK 9 17681156 17681156 single base substitution A C intron_variant ESAD-UK 9 17681198 17681198 single base substitution C T intron_variant ESAD-UK 9 17681543 17681543 single base substitution A C intron_variant ESAD-UK 9 17681543 17681543 single base substitution A T intron_variant ESAD-UK 9 17681808 17681808 single base substitution C T intron_variant ESAD-UK 9 17682266 17682266 single base substitution T G intron_variant ESAD-UK 9 17682634 17682634 single base substitution A C intron_variant ESAD-UK 9 17682634 17682634 single base substitution A G intron_variant ESAD-UK 9 17682753 17682753 single base substitution A C intron_variant ESAD-UK 9 17682753 17682753 single base substitution A G intron_variant ESAD-UK 9 17682753 17682753 single base substitution A T intron_variant ESAD-UK 9 17683025 17683025 single base substitution T G intron_variant ESAD-UK 9 17683133 17683133 single base substitution C A intron_variant ESAD-UK 9 17683254 17683254 single base substitution C G intron_variant ESAD-UK 9 17683449 17683449 single base substitution G T intron_variant ESAD-UK 9 17683515 17683515 single base substitution A G intron_variant ESAD-UK 9 17683686 17683686 single base substitution A C intron_variant ESAD-UK 9 17683791 17683791 single base substitution A G intron_variant ESAD-UK 9 17684027 17684027 single base substitution T G intron_variant ESAD-UK 9 17684069 17684069 single base substitution A C intron_variant ESAD-UK 9 17684282 17684282 single base substitution T C intron_variant ESAD-UK 9 17685212 17685212 single base substitution T C intron_variant ESAD-UK 9 17687343 17687343 single base substitution T C intron_variant ESAD-UK 9 17687603 17687603 single base substitution G T intron_variant ESAD-UK 9 17687695 17687695 single base substitution A C intron_variant ESAD-UK 9 17688336 17688336 insertion of <=200bp - A intron_variant ESAD-UK 9 17688787 17688787 single base substitution A T intron_variant ESAD-UK 9 17688914 17688914 single base substitution G A intron_variant ESAD-UK 9 17689234 17689234 single base substitution A G intron_variant ESAD-UK 9 17689348 17689348 single base substitution A C intron_variant ESAD-UK 9 17689884 17689884 single base substitution T G intron_variant ESAD-UK 9 17690107 17690107 single base substitution A T intron_variant ESAD-UK 9 17690384 17690384 single base substitution T G intron_variant ESAD-UK 9 17690542 17690542 single base substitution T G intron_variant ESAD-UK 9 17690643 17690643 single base substitution T C intron_variant ESAD-UK 9 17691245 17691245 single base substitution T G intron_variant ESAD-UK 9 17691537 17691537 single base substitution T G intron_variant ESAD-UK 9 17691566 17691566 single base substitution G T intron_variant ESAD-UK 9 17692036 17692036 single base substitution A C intron_variant ESAD-UK 9 17692168 17692168 single base substitution A C intron_variant ESAD-UK 9 17692828 17692828 single base substitution C T intron_variant ESAD-UK 9 17693025 17693025 single base substitution T G intron_variant ESAD-UK 9 17693275 17693275 single base substitution G T intron_variant ESAD-UK 9 17693627 17693627 single base substitution T C intron_variant ESAD-UK 9 17694042 17694042 single base substitution T G intron_variant ESAD-UK 9 17694179 17694179 single base substitution A G intron_variant ESAD-UK 9 17694406 17694406 single base substitution G T intron_variant ESAD-UK 9 17694415 17694415 single base substitution T G intron_variant ESAD-UK 9 17694647 17694647 single base substitution A G intron_variant ESAD-UK 9 17694776 17694776 single base substitution A T intron_variant ESAD-UK 9 17694897 17694897 single base substitution G A intron_variant ESAD-UK 9 17694984 17694984 single base substitution A C intron_variant ESAD-UK 9 17694987 17694987 single base substitution T A intron_variant ESAD-UK 9 17695018 17695018 single base substitution G T intron_variant ESAD-UK 9 17695024 17695024 single base substitution A G intron_variant ESAD-UK 9 17695089 17695089 single base substitution G A intron_variant ESAD-UK 9 17695535 17695535 single base substitution T C intron_variant ESAD-UK 9 17695555 17695555 single base substitution G A intron_variant ESAD-UK 9 17696415 17696415 single base substitution G T intron_variant ESAD-UK 9 17696584 17696584 single base substitution A G intron_variant ESAD-UK 9 17696616 17696616 deletion of <=200bp A - intron_variant ESAD-UK 9 17696778 17696778 single base substitution C T intron_variant ESAD-UK 9 17696915 17696915 single base substitution T G intron_variant ESAD-UK 9 17697359 17697359 single base substitution T C intron_variant ESAD-UK 9 17697643 17697643 single base substitution C A intron_variant ESAD-UK 9 17697674 17697674 single base substitution T G intron_variant ESAD-UK 9 17697822 17697822 single base substitution A T intron_variant ESAD-UK 9 17698452 17698452 single base substitution C T intron_variant ESAD-UK 9 17698803 17698803 insertion of <=200bp - T intron_variant ESAD-UK 9 17698900 17698900 single base substitution A C intron_variant ESAD-UK 9 17698939 17698939 single base substitution A C intron_variant ESAD-UK 9 17699044 17699044 single base substitution T C intron_variant ESAD-UK 9 17699210 17699210 single base substitution A T intron_variant ESAD-UK 9 17699706 17699706 single base substitution G A intron_variant ESAD-UK 9 17700036 17700036 single base substitution G T intron_variant ESAD-UK 9 17700198 17700198 single base substitution A C intron_variant ESAD-UK 9 17700261 17700261 single base substitution T G intron_variant ESAD-UK 9 17700271 17700271 single base substitution T G intron_variant ESAD-UK 9 17700393 17700393 single base substitution T C intron_variant ESAD-UK 9 17700505 17700505 single base substitution T C intron_variant ESAD-UK 9 17700505 17700505 single base substitution T G intron_variant ESAD-UK 9 17700583 17700583 single base substitution G A intron_variant ESAD-UK 9 17701333 17701333 single base substitution G T intron_variant ESAD-UK 9 17701380 17701380 single base substitution G T intron_variant ESAD-UK 9 17701935 17701935 single base substitution A C intron_variant ESAD-UK 9 17702626 17702626 single base substitution T C intron_variant ESAD-UK 9 17702788 17702788 single base substitution T C intron_variant ESAD-UK 9 17702807 17702807 deletion of <=200bp T - intron_variant ESAD-UK 9 17702832 17702832 single base substitution C A intron_variant ESAD-UK 9 17703092 17703092 single base substitution A G intron_variant ESAD-UK 9 17703547 17703547 single base substitution C A intron_variant ESAD-UK 9 17704047 17704047 single base substitution C T intron_variant ESAD-UK 9 17704658 17704658 single base substitution T G intron_variant ESAD-UK 9 17704930 17704930 single base substitution A G intron_variant ESAD-UK 9 17704963 17704963 single base substitution C G intron_variant ESAD-UK 9 17705002 17705002 single base substitution A C intron_variant ESAD-UK 9 17705103 17705103 single base substitution A T intron_variant ESAD-UK 9 17706079 17706079 single base substitution T C intron_variant ESAD-UK 9 17707296 17707296 single base substitution G A intron_variant ESAD-UK 9 17708050 17708050 single base substitution C T intron_variant ESAD-UK 9 17708295 17708295 single base substitution A G intron_variant ESAD-UK 9 17708562 17708562 single base substitution C T intron_variant ESAD-UK 9 17708820 17708820 single base substitution A T intron_variant ESAD-UK 9 17709165 17709165 single base substitution C A intron_variant ESAD-UK 9 17709397 17709397 single base substitution C T intron_variant ESAD-UK 9 17709646 17709646 single base substitution G A intron_variant ESAD-UK 9 17709771 17709771 single base substitution T G intron_variant ESAD-UK 9 17709861 17709861 single base substitution A G intron_variant ESAD-UK 9 17709870 17709870 single base substitution A G intron_variant ESAD-UK 9 17710069 17710069 single base substitution C T intron_variant ESAD-UK 9 17710111 17710111 single base substitution C A intron_variant ESAD-UK 9 17710394 17710394 single base substitution C G intron_variant ESAD-UK 9 17710432 17710432 single base substitution G C intron_variant ESAD-UK 9 17710718 17710718 single base substitution A C intron_variant ESAD-UK 9 17711221 17711221 deletion of <=200bp T - intron_variant ESAD-UK 9 17711401 17711401 single base substitution G A intron_variant ESAD-UK 9 17711818 17711818 single base substitution G T intron_variant ESAD-UK 9 17712390 17712390 single base substitution A G intron_variant ESAD-UK 9 17712390 17712390 single base substitution A T intron_variant ESAD-UK 9 17712507 17712507 insertion of <=200bp - T intron_variant ESAD-UK 9 17713053 17713053 single base substitution C A intron_variant ESAD-UK 9 17713216 17713216 single base substitution T G intron_variant ESAD-UK 9 17713301 17713301 single base substitution A C intron_variant ESAD-UK 9 17713488 17713488 single base substitution G A intron_variant ESAD-UK 9 17714036 17714036 single base substitution C T intron_variant ESAD-UK 9 17714048 17714048 single base substitution G T intron_variant ESAD-UK 9 17714181 17714181 single base substitution T C intron_variant ESAD-UK 9 17714181 17714181 single base substitution T G intron_variant ESAD-UK 9 17714353 17714353 single base substitution T C intron_variant ESAD-UK 9 17714864 17714864 single base substitution T G intron_variant ESAD-UK 9 17714951 17714951 single base substitution A T intron_variant ESAD-UK 9 17715158 17715158 single base substitution G T intron_variant ESAD-UK 9 17715363 17715363 single base substitution A C intron_variant ESAD-UK 9 17715363 17715363 single base substitution A T intron_variant ESAD-UK 9 17715637 17715637 insertion of <=200bp - T intron_variant ESAD-UK 9 17715888 17715888 single base substitution A T intron_variant ESAD-UK 9 17715944 17715944 single base substitution A C intron_variant ESAD-UK 9 17716280 17716280 single base substitution T A intron_variant ESAD-UK 9 17716958 17716958 single base substitution T A intron_variant ESAD-UK 9 17717147 17717147 single base substitution T G intron_variant ESAD-UK 9 17717395 17717395 deletion of <=200bp T - intron_variant ESAD-UK 9 17717602 17717602 single base substitution A C intron_variant ESAD-UK 9 17717785 17717785 single base substitution T C intron_variant ESAD-UK 9 17717824 17717824 single base substitution A C intron_variant ESAD-UK 9 17718033 17718033 single base substitution A C intron_variant ESAD-UK 9 17718048 17718048 single base substitution A C intron_variant ESAD-UK 9 17718249 17718249 single base substitution C G intron_variant ESAD-UK 9 17718260 17718260 single base substitution T G intron_variant ESAD-UK 9 17718351 17718351 single base substitution G T intron_variant ESAD-UK 9 17718483 17718483 single base substitution C T intron_variant ESAD-UK 9 17718784 17718784 single base substitution A T intron_variant ESAD-UK 9 17718850 17718850 single base substitution T C intron_variant ESAD-UK 9 17718912 17718912 single base substitution T G intron_variant ESAD-UK 9 17719031 17719031 single base substitution A C intron_variant ESAD-UK 9 17719093 17719093 single base substitution T G intron_variant ESAD-UK 9 17719205 17719205 single base substitution C T intron_variant ESAD-UK 9 17719641 17719641 insertion of <=200bp - C intron_variant ESAD-UK 9 17719692 17719692 single base substitution G T intron_variant ESAD-UK 9 17720221 17720221 single base substitution T G intron_variant ESAD-UK 9 17721223 17721223 single base substitution G A intron_variant ESAD-UK 9 17721719 17721719 single base substitution A C intron_variant ESAD-UK 9 17722228 17722228 single base substitution A C intron_variant ESAD-UK 9 17722654 17722654 single base substitution T A intron_variant ESAD-UK 9 17722752 17722752 single base substitution A G intron_variant ESAD-UK 9 17722845 17722845 single base substitution A C intron_variant ESAD-UK 9 17722871 17722871 single base substitution G A intron_variant ESAD-UK 9 17723129 17723129 single base substitution T C intron_variant ESAD-UK 9 17723295 17723295 single base substitution T G intron_variant ESAD-UK 9 17723685 17723685 single base substitution T G intron_variant ESAD-UK 9 17723732 17723732 single base substitution C T intron_variant ESAD-UK 9 17723744 17723744 single base substitution T A intron_variant ESAD-UK 9 17724104 17724104 single base substitution T G intron_variant ESAD-UK 9 17724752 17724752 single base substitution T G intron_variant ESAD-UK 9 17725350 17725350 single base substitution T A intron_variant ESAD-UK 9 17725393 17725393 single base substitution T G intron_variant ESAD-UK 9 17725560 17725560 single base substitution G T intron_variant ESAD-UK 9 17726017 17726017 single base substitution C G intron_variant ESAD-UK 9 17726018 17726018 single base substitution T G intron_variant ESAD-UK 9 17726033 17726033 single base substitution A C intron_variant ESAD-UK 9 17726396 17726399 deletion of <=200bp AATA - intron_variant ESAD-UK 9 17726573 17726573 single base substitution T C intron_variant ESAD-UK 9 17727168 17727168 single base substitution A G intron_variant ESAD-UK 9 17727444 17727444 insertion of <=200bp - A intron_variant ESAD-UK 9 17727554 17727554 single base substitution T C intron_variant ESAD-UK 9 17727627 17727627 single base substitution T G intron_variant ESAD-UK 9 17727786 17727786 single base substitution G A intron_variant ESAD-UK 9 17728001 17728001 single base substitution A G intron_variant ESAD-UK 9 17728449 17728449 single base substitution A G intron_variant ESAD-UK 9 17729263 17729263 single base substitution C A intron_variant ESAD-UK 9 17729389 17729389 single base substitution A C intron_variant ESAD-UK 9 17729389 17729389 single base substitution A T intron_variant ESAD-UK 9 17729911 17729911 single base substitution T G intron_variant ESAD-UK 9 17730152 17730152 single base substitution T G intron_variant ESAD-UK 9 17730357 17730357 single base substitution C A intron_variant ESAD-UK 9 17730666 17730666 single base substitution A T intron_variant ESAD-UK 9 17730738 17730738 single base substitution C G intron_variant ESAD-UK 9 17730738 17730738 single base substitution C G upstream_gene_variant ESAD-UK 9 17730751 17730751 single base substitution A C intron_variant ESAD-UK 9 17730751 17730751 single base substitution A C upstream_gene_variant ESAD-UK 9 17730801 17730801 single base substitution T G intron_variant ESAD-UK 9 17730801 17730801 single base substitution T G upstream_gene_variant ESAD-UK 9 17731142 17731142 single base substitution C A intron_variant ESAD-UK 9 17731142 17731142 single base substitution C A upstream_gene_variant ESAD-UK 9 17731405 17731405 deletion of <=200bp G - intron_variant ESAD-UK 9 17731405 17731405 deletion of <=200bp G - upstream_gene_variant ESAD-UK 9 17731572 17731572 single base substitution A G intron_variant ESAD-UK 9 17731572 17731572 single base substitution A G upstream_gene_variant ESAD-UK 9 17731594 17731594 single base substitution T G intron_variant ESAD-UK 9 17731594 17731594 single base substitution T G upstream_gene_variant ESAD-UK 9 17732009 17732009 single base substitution A T intron_variant ESAD-UK 9 17732009 17732009 single base substitution A T upstream_gene_variant ESAD-UK 9 17732176 17732176 single base substitution A C intron_variant ESAD-UK 9 17732176 17732176 single base substitution A C upstream_gene_variant ESAD-UK 9 17732815 17732815 single base substitution G A intron_variant ESAD-UK 9 17732815 17732815 single base substitution G A upstream_gene_variant ESAD-UK 9 17733199 17733199 single base substitution A C intron_variant ESAD-UK 9 17733199 17733199 single base substitution A C upstream_gene_variant ESAD-UK 9 17734092 17734092 single base substitution A C intron_variant ESAD-UK 9 17734092 17734092 single base substitution A C upstream_gene_variant ESAD-UK 9 17734092 17734092 single base substitution A G intron_variant ESAD-UK 9 17734092 17734092 single base substitution A G upstream_gene_variant ESAD-UK 9 17734569 17734569 single base substitution T G intron_variant ESAD-UK 9 17734569 17734569 single base substitution T G upstream_gene_variant ESAD-UK 9 17734687 17734687 single base substitution A C intron_variant ESAD-UK 9 17734687 17734687 single base substitution A C upstream_gene_variant ESAD-UK 9 17735007 17735007 single base substitution A C intron_variant ESAD-UK 9 17735007 17735007 single base substitution A C upstream_gene_variant ESAD-UK 9 17735558 17735558 single base substitution G T intron_variant ESAD-UK 9 17735558 17735558 single base substitution G T upstream_gene_variant ESAD-UK 9 17735643 17735643 single base substitution T G intron_variant ESAD-UK 9 17735643 17735643 single base substitution T G upstream_gene_variant ESAD-UK 9 17735702 17735702 single base substitution A C intron_variant ESAD-UK 9 17735702 17735702 single base substitution A C upstream_gene_variant ESAD-UK 9 17735798 17735798 single base substitution T C 5_prime_UTR_variant ESAD-UK 9 17735798 17735798 single base substitution T C intron_variant ESAD-UK 9 17736404 17736404 single base substitution T G intron_variant ESAD-UK 9 17737081 17737081 single base substitution T A intron_variant ESAD-UK 9 17737293 17737293 single base substitution T G intron_variant ESAD-UK 9 17737338 17737338 single base substitution T G intron_variant ESAD-UK 9 17737982 17737982 single base substitution T G intron_variant ESAD-UK 9 17738011 17738011 single base substitution T A intron_variant ESAD-UK 9 17738483 17738483 single base substitution C T intron_variant ESAD-UK 9 17738640 17738640 insertion of <=200bp - ATATATATAGAG intron_variant ESAD-UK 9 17739387 17739387 single base substitution A T intron_variant ESAD-UK 9 17739766 17739766 single base substitution T C intron_variant ESAD-UK 9 17739857 17739857 single base substitution T C intron_variant ESAD-UK 9 17740109 17740109 single base substitution T G intron_variant ESAD-UK 9 17740130 17740130 single base substitution T G intron_variant ESAD-UK 9 17740184 17740184 single base substitution A G intron_variant ESAD-UK 9 17741279 17741279 single base substitution C G intron_variant ESAD-UK 9 17741864 17741864 single base substitution A C intron_variant ESAD-UK 9 17742291 17742291 single base substitution A C intron_variant ESAD-UK 9 17742344 17742344 single base substitution G A intron_variant ESAD-UK 9 17742993 17742993 single base substitution A G intron_variant ESAD-UK 9 17743028 17743028 single base substitution G T intron_variant ESAD-UK 9 17743153 17743153 single base substitution A G intron_variant ESAD-UK 9 17743243 17743243 single base substitution C A intron_variant ESAD-UK 9 17743288 17743288 single base substitution C A intron_variant ESAD-UK 9 17743323 17743323 single base substitution T G intron_variant ESAD-UK 9 17743494 17743494 single base substitution C G intron_variant ESAD-UK 9 17743798 17743798 single base substitution G A intron_variant ESAD-UK 9 17744224 17744224 single base substitution G A intron_variant ESAD-UK 9 17744365 17744365 deletion of <=200bp A - intron_variant ESAD-UK 9 17744470 17744470 single base substitution T A intron_variant ESAD-UK 9 17745295 17745295 single base substitution T C intron_variant ESAD-UK 9 17745671 17745671 single base substitution A C intron_variant ESAD-UK 9 17745872 17745873 deletion of <=200bp TG - intron_variant ESAD-UK 9 17746209 17746209 single base substitution G C intron_variant ESAD-UK 9 17746477 17746477 single base substitution A G intron_variant ESAD-UK 9 17746810 17746810 single base substitution A C intron_variant ESAD-UK 9 17747740 17747740 single base substitution T A intron_variant ESAD-UK 9 17748489 17748489 single base substitution T G intron_variant ESAD-UK 9 17748515 17748515 single base substitution A G intron_variant ESAD-UK 9 17748733 17748733 single base substitution T G intron_variant ESAD-UK 9 17749294 17749294 single base substitution T G intron_variant ESAD-UK 9 17749432 17749432 single base substitution T C intron_variant ESAD-UK 9 17749480 17749480 single base substitution C A intron_variant ESAD-UK 9 17749601 17749601 single base substitution A C intron_variant ESAD-UK 9 17749610 17749610 single base substitution G T intron_variant ESAD-UK 9 17750018 17750018 single base substitution C A intron_variant ESAD-UK 9 17750490 17750490 single base substitution G C intron_variant ESAD-UK 9 17750577 17750577 single base substitution C A intron_variant ESAD-UK 9 17750792 17750792 single base substitution G C intron_variant ESAD-UK 9 17751185 17751185 single base substitution A G intron_variant ESAD-UK 9 17751378 17751378 single base substitution T G intron_variant ESAD-UK 9 17751430 17751430 single base substitution T G intron_variant ESAD-UK 9 17751678 17751678 single base substitution T G intron_variant ESAD-UK 9 17751758 17751758 single base substitution G T intron_variant ESAD-UK 9 17752352 17752352 single base substitution T G intron_variant ESAD-UK 9 17752427 17752427 single base substitution T C intron_variant ESAD-UK 9 17752666 17752666 single base substitution T G intron_variant ESAD-UK 9 17752739 17752739 single base substitution G A intron_variant ESAD-UK 9 17752791 17752791 single base substitution T C intron_variant ESAD-UK 9 17753087 17753087 single base substitution T A intron_variant ESAD-UK 9 17753847 17753847 single base substitution T G intron_variant ESAD-UK 9 17754218 17754218 single base substitution T C intron_variant ESAD-UK 9 17754384 17754384 single base substitution A C intron_variant ESAD-UK 9 17754621 17754621 single base substitution A G intron_variant ESAD-UK 9 17756005 17756005 insertion of <=200bp - T intron_variant ESAD-UK 9 17756099 17756099 single base substitution T G intron_variant ESAD-UK 9 17756119 17756119 single base substitution A C intron_variant ESAD-UK 9 17756119 17756119 single base substitution A G intron_variant ESAD-UK 9 17756129 17756129 single base substitution T C intron_variant ESAD-UK 9 17756141 17756141 single base substitution A C intron_variant ESAD-UK 9 17756268 17756268 single base substitution A C intron_variant ESAD-UK 9 17756287 17756287 single base substitution T C intron_variant ESAD-UK 9 17757116 17757116 single base substitution T C intron_variant ESAD-UK 9 17757275 17757275 single base substitution A T intron_variant ESAD-UK 9 17757570 17757570 single base substitution A C intron_variant ESAD-UK 9 17758634 17758634 single base substitution A T intron_variant ESAD-UK 9 17758863 17758863 single base substitution C A intron_variant ESAD-UK 9 17759216 17759216 single base substitution G T intron_variant ESAD-UK 9 17759433 17759433 single base substitution G T intron_variant ESAD-UK 9 17759926 17759926 single base substitution A G intron_variant ESAD-UK 9 17760138 17760138 single base substitution G C intron_variant ESAD-UK 9 17761202 17761202 single base substitution T G intron_variant ESAD-UK 9 17761293 17761293 single base substitution C T intron_variant ESAD-UK 9 17761786 17761786 single base substitution G A intron_variant ESAD-UK 9 17762058 17762058 single base substitution C T intron_variant ESAD-UK 9 17763018 17763018 single base substitution A C intron_variant ESAD-UK 9 17763020 17763020 single base substitution A G intron_variant ESAD-UK 9 17763028 17763028 single base substitution A G intron_variant ESAD-UK 9 17763103 17763103 single base substitution T C intron_variant ESAD-UK 9 17763153 17763153 single base substitution G T intron_variant ESAD-UK 9 17763219 17763219 single base substitution T A intron_variant ESAD-UK 9 17763314 17763314 single base substitution T G intron_variant ESAD-UK 9 17763798 17763798 single base substitution A C intron_variant ESAD-UK 9 17763801 17763801 deletion of <=200bp A - intron_variant ESAD-UK 9 17764429 17764429 single base substitution A C intron_variant ESAD-UK 9 17764449 17764449 single base substitution C A intron_variant ESAD-UK 9 17765942 17765942 single base substitution T G intron_variant ESAD-UK 9 17766034 17766034 single base substitution T C intron_variant ESAD-UK 9 17766249 17766249 single base substitution G T intron_variant ESAD-UK 9 17766262 17766262 single base substitution A G intron_variant ESAD-UK 9 17766455 17766455 single base substitution C G intron_variant ESAD-UK 9 17766485 17766485 single base substitution G T intron_variant ESAD-UK 9 17766792 17766792 single base substitution C T intron_variant ESAD-UK 9 17766816 17766816 single base substitution T C intron_variant ESAD-UK 9 17766941 17766941 single base substitution A T intron_variant ESAD-UK 9 17766979 17766979 single base substitution G T intron_variant ESAD-UK 9 17767223 17767223 single base substitution T C intron_variant ESAD-UK 9 17768260 17768260 single base substitution T G intron_variant ESAD-UK 9 17768628 17768628 single base substitution T C intron_variant ESAD-UK 9 17769121 17769121 single base substitution T A intron_variant ESAD-UK 9 17769439 17769439 single base substitution A C intron_variant ESAD-UK 9 17770258 17770258 single base substitution G A intron_variant ESAD-UK 9 17770451 17770451 single base substitution A C intron_variant ESAD-UK 9 17770968 17770968 single base substitution C T intron_variant ESAD-UK 9 17771225 17771225 single base substitution T C intron_variant ESAD-UK 9 17771667 17771667 single base substitution C T intron_variant ESAD-UK 9 17771725 17771725 single base substitution T G intron_variant ESAD-UK 9 17771851 17771851 single base substitution G A intron_variant ESAD-UK 9 17771892 17771892 single base substitution A C intron_variant ESAD-UK 9 17771977 17771977 single base substitution T G intron_variant ESAD-UK 9 17771984 17771984 single base substitution A C intron_variant ESAD-UK 9 17771997 17771997 single base substitution G C intron_variant ESAD-UK 9 17772002 17772002 single base substitution A C intron_variant ESAD-UK 9 17772124 17772124 single base substitution A C intron_variant ESAD-UK 9 17772239 17772239 single base substitution T G intron_variant ESAD-UK 9 17772241 17772241 single base substitution G C intron_variant ESAD-UK 9 17772316 17772316 single base substitution A T intron_variant ESAD-UK 9 17772966 17772966 single base substitution G T intron_variant ESAD-UK 9 17773599 17773599 single base substitution A G intron_variant ESAD-UK 9 17773750 17773750 deletion of <=200bp T - intron_variant ESAD-UK 9 17773845 17773845 single base substitution T C intron_variant ESAD-UK 9 17773845 17773845 single base substitution T G intron_variant ESAD-UK 9 17774285 17774285 single base substitution T G intron_variant ESAD-UK 9 17774841 17774841 single base substitution A C intron_variant ESAD-UK 9 17775117 17775117 single base substitution A G intron_variant ESAD-UK 9 17775557 17775557 single base substitution T C intron_variant ESAD-UK 9 17775713 17775713 single base substitution G T intron_variant ESAD-UK 9 17775777 17775777 single base substitution T A intron_variant ESAD-UK 9 17775840 17775840 single base substitution A C intron_variant ESAD-UK 9 17776084 17776084 single base substitution G A intron_variant ESAD-UK 9 17776473 17776473 single base substitution C T intron_variant ESAD-UK 9 17776807 17776807 single base substitution A G intron_variant ESAD-UK 9 17777215 17777215 single base substitution T G intron_variant ESAD-UK 9 17777363 17777363 single base substitution T A intron_variant ESAD-UK 9 17777368 17777368 single base substitution A G intron_variant ESAD-UK 9 17777499 17777499 single base substitution T G intron_variant ESAD-UK 9 17777505 17777505 single base substitution C T intron_variant ESAD-UK 9 17777536 17777536 single base substitution A G intron_variant ESAD-UK 9 17777673 17777673 single base substitution C T intron_variant ESAD-UK 9 17778723 17778723 single base substitution T G intron_variant ESAD-UK 9 17778790 17778790 single base substitution A C intron_variant ESAD-UK 9 17778955 17778955 single base substitution A C intron_variant ESAD-UK 9 17779092 17779092 single base substitution C A intron_variant ESAD-UK 9 17779129 17779129 single base substitution T G intron_variant ESAD-UK 9 17779137 17779137 single base substitution T A intron_variant ESAD-UK 9 17779278 17779278 single base substitution C T intron_variant ESAD-UK 9 17781576 17781576 single base substitution A C intron_variant ESAD-UK 9 17781742 17781742 single base substitution T C intron_variant ESAD-UK 9 17781887 17781887 single base substitution C A intron_variant ESAD-UK 9 17782032 17782032 single base substitution T G intron_variant ESAD-UK 9 17782152 17782152 single base substitution T G intron_variant ESAD-UK 9 17782296 17782296 single base substitution A C intron_variant ESAD-UK 9 17782339 17782339 single base substitution T G intron_variant ESAD-UK 9 17782642 17782642 single base substitution C A intron_variant ESAD-UK 9 17782763 17782763 single base substitution A C intron_variant ESAD-UK 9 17782766 17782766 single base substitution T G intron_variant ESAD-UK 9 17782779 17782779 single base substitution A G intron_variant ESAD-UK 9 17783120 17783120 single base substitution T G intron_variant ESAD-UK 9 17783596 17783596 single base substitution G T intron_variant ESAD-UK 9 17783970 17783970 single base substitution A C intron_variant ESAD-UK 9 17784086 17784086 single base substitution T C intron_variant ESAD-UK 9 17784124 17784124 insertion of <=200bp - T intron_variant ESAD-UK 9 17784359 17784359 single base substitution T C intron_variant ESAD-UK 9 17785967 17785967 single base substitution G T intron_variant ESAD-UK 9 17786250 17786250 single base substitution G A intron_variant ESAD-UK 9 17786571 17786571 single base substitution T G intron_variant ESAD-UK 9 17786710 17786710 single base substitution A G intron_variant ESAD-UK 9 17786723 17786723 insertion of <=200bp - C intron_variant ESAD-UK 9 17786893 17786893 single base substitution G C intron_variant ESAD-UK 9 17787044 17787044 single base substitution A C intron_variant ESAD-UK 9 17787531 17787531 single base substitution T C intron_variant ESAD-UK 9 17787775 17787775 single base substitution C A intron_variant ESAD-UK 9 17787817 17787817 single base substitution T G intron_variant ESAD-UK 9 17787836 17787836 single base substitution C T intron_variant ESAD-UK 9 17787927 17787927 deletion of <=200bp T - intron_variant ESAD-UK 9 17788185 17788185 single base substitution C A intron_variant ESAD-UK 9 17788321 17788321 deletion of <=200bp A - intron_variant ESAD-UK 9 17788899 17788899 single base substitution T G intron_variant ESAD-UK 9 17788965 17788965 single base substitution A T intron_variant ESAD-UK 9 17789120 17789120 single base substitution T G intron_variant ESAD-UK 9 17789182 17789182 single base substitution T C intron_variant ESAD-UK 9 17789303 17789303 single base substitution A G intron_variant ESAD-UK 9 17789542 17789542 single base substitution G A synonymous_variant E159E 477G>A ESAD-UK 9 17789542 17789542 single base substitution G A synonymous_variant E206E 618G>A ESAD-UK 9 17789886 17789886 single base substitution T G intron_variant ESAD-UK 9 17790335 17790335 single base substitution C A intron_variant ESAD-UK 9 17790440 17790440 single base substitution G T intron_variant ESAD-UK 9 17790628 17790628 single base substitution C A intron_variant ESAD-UK 9 17791728 17791728 single base substitution A G intron_variant ESAD-UK 9 17791769 17791769 single base substitution A C intron_variant ESAD-UK 9 17791789 17791789 single base substitution A G intron_variant ESAD-UK 9 17792266 17792266 single base substitution T C intron_variant ESAD-UK 9 17792337 17792337 single base substitution G T intron_variant ESAD-UK 9 17792646 17792646 single base substitution C A intron_variant ESAD-UK 9 17793270 17793270 single base substitution G A intron_variant ESAD-UK 9 17793310 17793310 single base substitution A T intron_variant ESAD-UK 9 17793814 17793814 single base substitution T A intron_variant ESAD-UK 9 17794933 17794933 single base substitution T C intron_variant ESAD-UK 9 17795408 17795408 single base substitution T G intron_variant ESAD-UK 9 17795656 17795656 single base substitution A T missense_variant E278V 833A>T ESAD-UK 9 17795656 17795656 single base substitution A T missense_variant E325V 974A>T ESAD-UK 9 17795760 17795760 single base substitution T C 3_prime_UTR_variant ESAD-UK 9 17795792 17795792 single base substitution A T 3_prime_UTR_variant ESAD-UK 9 17796023 17796023 single base substitution T G 3_prime_UTR_variant ESAD-UK 9 17796023 17796023 single base substitution T G downstream_gene_variant ESAD-UK 9 17796136 17796136 single base substitution A G 3_prime_UTR_variant ESAD-UK 9 17796136 17796136 single base substitution A G downstream_gene_variant ESAD-UK 9 17796189 17796189 single base substitution G A 3_prime_UTR_variant ESAD-UK 9 17796189 17796189 single base substitution G A downstream_gene_variant ESAD-UK 9 17796280 17796280 single base substitution T C 3_prime_UTR_variant ESAD-UK 9 17796280 17796280 single base substitution T C downstream_gene_variant ESAD-UK 9 17796303 17796303 single base substitution G C 3_prime_UTR_variant ESAD-UK 9 17796303 17796303 single base substitution G C downstream_gene_variant ESAD-UK 9 17796334 17796334 single base substitution C A 3_prime_UTR_variant ESAD-UK 9 17796334 17796334 single base substitution C A downstream_gene_variant ESAD-UK 9 17796554 17796554 single base substitution G A 3_prime_UTR_variant ESAD-UK 9 17796554 17796554 single base substitution G A downstream_gene_variant ESAD-UK 9 17796970 17796970 single base substitution G C 3_prime_UTR_variant ESAD-UK 9 17796970 17796970 single base substitution G C downstream_gene_variant ESAD-UK 9 17797147 17797147 single base substitution G A downstream_gene_variant ESAD-UK 9 17797335 17797335 single base substitution G T downstream_gene_variant ESAD-UK 9 17797544 17797544 single base substitution C T downstream_gene_variant ESAD-UK 9 17797633 17797633 single base substitution A G downstream_gene_variant ESAD-UK 9 17797645 17797645 single base substitution C T downstream_gene_variant ESAD-UK 9 17797678 17797678 single base substitution A G downstream_gene_variant ESAD-UK 9 17797771 17797771 single base substitution C A downstream_gene_variant ESAD-UK 9 17798648 17798648 single base substitution C A downstream_gene_variant ESAD-UK 9 17798672 17798672 single base substitution A T downstream_gene_variant ESAD-UK 9 17799775 17799775 single base substitution T G downstream_gene_variant ESAD-UK 9 17800813 17800813 single base substitution A C downstream_gene_variant ESAD-UK 9 17801284 17801284 single base substitution A C downstream_gene_variant ESAD-UK 9 17801462 17801462 single base substitution G A downstream_gene_variant ESAD-UK 9 17801472 17801472 single base substitution T G downstream_gene_variant ESAD-UK 9 17801697 17801697 single base substitution C T downstream_gene_variant ESAD-UK 9 17801787 17801787 single base substitution T C downstream_gene_variant ESAD-UK 9 17801787 17801787 single base substitution T G downstream_gene_variant ESAD-UK 9 17801859 17801859 single base substitution C T downstream_gene_variant ESCA-CN 9 17787431 17787431 single base substitution G A missense_variant D129N 385G>A ESCA-CN 9 17787431 17787431 single base substitution G A missense_variant D82N 244G>A ESCA-CN 9 17789495 17789495 single base substitution G A missense_variant D144N 430G>A ESCA-CN 9 17789495 17789495 single base substitution G A missense_variant D191N 571G>A ESCA-CN 9 17795558 17795558 single base substitution G T missense_variant Q245H 735G>T ESCA-CN 9 17795558 17795558 single base substitution G T missense_variant Q292H 876G>T ESCA-CN 9 17796789 17796789 single base substitution A C 3_prime_UTR_variant ESCA-CN 9 17796789 17796789 single base substitution A C downstream_gene_variant LAML-KR 9 17656425 17656425 single base substitution T C intron_variant LAML-KR 9 17764700 17764700 single base substitution A T intron_variant LAML-KR 9 17780769 17780769 single base substitution G A intron_variant LAML-KR 9 17780794 17780794 single base substitution C G intron_variant LGG-US 9 17747099 17747099 single base substitution C T 5_prime_UTR_variant LGG-US 9 17747099 17747099 single base substitution C T synonymous_variant T27T 81C>T LGG-US 9 17795580 17795580 single base substitution G A missense_variant D253N 757G>A LGG-US 9 17795580 17795580 single base substitution G A missense_variant D300N 898G>A LIAD-FR 9 17795608 17795608 single base substitution T C missense_variant L262S 785T>C LIAD-FR 9 17795608 17795608 single base substitution T C missense_variant L309S 926T>C LICA-FR 9 17575921 17575921 single base substitution C G upstream_gene_variant LICA-FR 9 17601825 17601825 single base substitution C A intron_variant LICA-FR 9 17604976 17604978 deletion of <=200bp TTT - intron_variant LICA-FR 9 17605554 17605554 single base substitution A G intron_variant LICA-FR 9 17611001 17611001 single base substitution G A intron_variant LICA-FR 9 17617174 17617174 single base substitution T C intron_variant LICA-FR 9 17622985 17622985 single base substitution T G intron_variant LICA-FR 9 17625853 17625853 single base substitution C T intron_variant LICA-FR 9 17646598 17646598 single base substitution C G intron_variant LICA-FR 9 17663281 17663281 single base substitution G A intron_variant LICA-FR 9 17677680 17677680 single base substitution A G intron_variant LICA-FR 9 17678834 17678834 single base substitution G A intron_variant LICA-FR 9 17679896 17679896 single base substitution T C intron_variant LICA-FR 9 17690578 17690578 single base substitution C T intron_variant LICA-FR 9 17707186 17707186 single base substitution C A intron_variant LICA-FR 9 17712308 17712308 single base substitution T G intron_variant LICA-FR 9 17727762 17727762 single base substitution G A intron_variant LICA-FR 9 17728251 17728251 single base substitution G T intron_variant LICA-FR 9 17742930 17742930 single base substitution G T intron_variant LICA-FR 9 17745600 17745600 single base substitution C A intron_variant LICA-FR 9 17762397 17762398 deletion of <=200bp CA - intron_variant LICA-FR 9 17764717 17764717 single base substitution G C intron_variant LICA-FR 9 17764851 17764851 single base substitution A G intron_variant LICA-FR 9 17764860 17764860 single base substitution T C intron_variant LICA-FR 9 17764939 17764939 single base substitution G C intron_variant LICA-FR 9 17776667 17776667 insertion of <=200bp - TTTT intron_variant LICA-FR 9 17784838 17784838 single base substitution G A intron_variant LICA-FR 9 17795608 17795608 single base substitution T C missense_variant L262S 785T>C LICA-FR 9 17795608 17795608 single base substitution T C missense_variant L309S 926T>C LICA-FR 9 17797435 17797435 single base substitution G T downstream_gene_variant LICA-FR 9 17800928 17800928 single base substitution T A downstream_gene_variant LIHC-US 9 17786386 17786386 single base substitution A G synonymous_variant R18R 54A>G LIHC-US 9 17786386 17786386 single base substitution A G synonymous_variant R65R 195A>G LIHC-US 9 17787406 17787406 single base substitution C A synonymous_variant A120A 360C>A LIHC-US 9 17787406 17787406 single base substitution C A synonymous_variant A73A 219C>A LIHC-US 9 17789515 17789515 single base substitution T A synonymous_variant A150A 450T>A LIHC-US 9 17789515 17789515 single base substitution T A synonymous_variant A197A 591T>A LIHC-US 9 17793437 17793437 single base substitution T A synonymous_variant T220T 660T>A LIHC-US 9 17793437 17793437 single base substitution T A synonymous_variant T267T 801T>A LIHC-US 9 17795714 17795714 single base substitution G A synonymous_variant V297V 891G>A LIHC-US 9 17795714 17795714 single base substitution G A synonymous_variant V344V 1032G>A LINC-JP 9 17574504 17574504 single base substitution C T upstream_gene_variant LINC-JP 9 17574747 17574747 insertion of <=200bp - A upstream_gene_variant LINC-JP 9 17579742 17579742 single base substitution A G intron_variant LINC-JP 9 17582556 17582556 single base substitution T C intron_variant LINC-JP 9 17588931 17588931 single base substitution G A intron_variant LINC-JP 9 17588932 17588932 single base substitution G T intron_variant LINC-JP 9 17597190 17597190 single base substitution T G intron_variant LINC-JP 9 17606107 17606107 single base substitution T G intron_variant LINC-JP 9 17608995 17608995 single base substitution C T intron_variant LINC-JP 9 17625589 17625589 single base substitution G C intron_variant LINC-JP 9 17639782 17639782 single base substitution T C intron_variant LINC-JP 9 17640606 17640606 single base substitution G A intron_variant LINC-JP 9 17643708 17643708 single base substitution T C intron_variant LINC-JP 9 17646461 17646461 single base substitution T G intron_variant LINC-JP 9 17648955 17648955 single base substitution G C intron_variant LINC-JP 9 17662362 17662362 single base substitution A G intron_variant LINC-JP 9 17673787 17673787 single base substitution T G intron_variant LINC-JP 9 17681204 17681204 single base substitution A C intron_variant LINC-JP 9 17688212 17688212 single base substitution A G intron_variant LINC-JP 9 17694461 17694461 single base substitution T A intron_variant LINC-JP 9 17696192 17696192 single base substitution T C intron_variant LINC-JP 9 17720530 17720530 single base substitution C G intron_variant LINC-JP 9 17730433 17730433 single base substitution T C intron_variant LINC-JP 9 17738516 17738516 single base substitution G T intron_variant LINC-JP 9 17741334 17741334 single base substitution A G intron_variant LINC-JP 9 17742660 17742660 single base substitution A G intron_variant LINC-JP 9 17750713 17750713 single base substitution A G intron_variant LINC-JP 9 17762412 17762412 single base substitution A G intron_variant LINC-JP 9 17773611 17773611 single base substitution C T intron_variant LINC-JP 9 17775467 17775467 single base substitution G A intron_variant LINC-JP 9 17776723 17776723 single base substitution G A intron_variant LINC-JP 9 17781576 17781576 single base substitution A C intron_variant LINC-JP 9 17781589 17781589 single base substitution G A intron_variant LINC-JP 9 17782197 17782197 single base substitution T C intron_variant LINC-JP 9 17787190 17787190 single base substitution A G intron_variant LINC-JP 9 17787196 17787196 single base substitution T G intron_variant LINC-JP 9 17793536 17793536 single base substitution C T intron_variant LINC-JP 9 17799900 17799900 single base substitution T G downstream_gene_variant LINC-JP 9 17799905 17799905 single base substitution T C downstream_gene_variant LINC-JP 9 17801860 17801860 single base substitution G A downstream_gene_variant LIRI-JP 9 17574364 17574364 single base substitution A G upstream_gene_variant LIRI-JP 9 17574869 17574869 single base substitution C T upstream_gene_variant LIRI-JP 9 17575503 17575503 single base substitution A T upstream_gene_variant LIRI-JP 9 17575514 17575514 single base substitution G A upstream_gene_variant LIRI-JP 9 17575848 17575848 single base substitution A T upstream_gene_variant LIRI-JP 9 17576032 17576032 single base substitution G A upstream_gene_variant LIRI-JP 9 17578398 17578398 single base substitution C A upstream_gene_variant LIRI-JP 9 17578904 17578904 single base substitution C T upstream_gene_variant LIRI-JP 9 17584120 17584120 single base substitution A G intron_variant LIRI-JP 9 17584967 17584967 single base substitution T G intron_variant LIRI-JP 9 17586073 17586073 single base substitution T C intron_variant LIRI-JP 9 17586422 17586422 single base substitution C A intron_variant LIRI-JP 9 17589399 17589399 single base substitution A G intron_variant LIRI-JP 9 17589834 17589834 single base substitution T C intron_variant LIRI-JP 9 17591501 17591501 single base substitution C T intron_variant LIRI-JP 9 17593758 17593758 single base substitution C A intron_variant LIRI-JP 9 17599249 17599249 single base substitution G T intron_variant LIRI-JP 9 17599572 17599572 single base substitution G T intron_variant LIRI-JP 9 17599865 17599865 single base substitution A T intron_variant LIRI-JP 9 17600230 17600230 single base substitution T C intron_variant LIRI-JP 9 17600613 17600613 single base substitution T C intron_variant LIRI-JP 9 17601359 17601359 single base substitution G C intron_variant LIRI-JP 9 17602838 17602838 single base substitution A G intron_variant LIRI-JP 9 17603568 17603568 single base substitution T C intron_variant LIRI-JP 9 17603973 17603973 single base substitution A G intron_variant LIRI-JP 9 17604741 17604757 deletion of <=200bp TGGCATCTACTAAGGCG - intron_variant LIRI-JP 9 17607126 17607126 single base substitution A G intron_variant LIRI-JP 9 17607174 17607174 single base substitution C T intron_variant LIRI-JP 9 17608513 17608513 single base substitution G T intron_variant LIRI-JP 9 17612226 17612226 single base substitution G A intron_variant LIRI-JP 9 17617151 17617151 single base substitution C T intron_variant LIRI-JP 9 17618364 17618364 single base substitution A G intron_variant LIRI-JP 9 17618755 17618755 single base substitution T C intron_variant LIRI-JP 9 17618955 17618955 single base substitution T C intron_variant LIRI-JP 9 17619562 17619562 single base substitution G T intron_variant LIRI-JP 9 17619563 17619563 single base substitution C T intron_variant LIRI-JP 9 17620990 17620990 single base substitution T C intron_variant LIRI-JP 9 17627545 17627545 single base substitution A G intron_variant LIRI-JP 9 17627813 17627813 single base substitution C G intron_variant LIRI-JP 9 17628760 17628760 single base substitution A G intron_variant LIRI-JP 9 17629631 17629631 single base substitution G A intron_variant LIRI-JP 9 17630250 17630250 single base substitution T A intron_variant LIRI-JP 9 17630536 17630536 single base substitution G A downstream_gene_variant LIRI-JP 9 17630536 17630536 single base substitution G A intron_variant LIRI-JP 9 17634149 17634149 single base substitution A G downstream_gene_variant LIRI-JP 9 17634149 17634149 single base substitution A G intron_variant LIRI-JP 9 17634452 17634452 single base substitution T C downstream_gene_variant LIRI-JP 9 17634452 17634452 single base substitution T C intron_variant LIRI-JP 9 17636873 17636873 single base substitution T C intron_variant LIRI-JP 9 17638102 17638102 single base substitution C A intron_variant LIRI-JP 9 17640753 17640753 single base substitution A G intron_variant LIRI-JP 9 17644962 17644962 single base substitution C A intron_variant LIRI-JP 9 17645976 17645976 single base substitution G A intron_variant LIRI-JP 9 17646622 17646622 single base substitution A T intron_variant LIRI-JP 9 17646819 17646819 single base substitution G T intron_variant LIRI-JP 9 17649150 17649150 single base substitution C A intron_variant LIRI-JP 9 17650437 17650437 single base substitution T C intron_variant LIRI-JP 9 17651006 17651006 single base substitution G A intron_variant LIRI-JP 9 17652183 17652183 single base substitution A T intron_variant LIRI-JP 9 17652938 17652938 single base substitution A G intron_variant LIRI-JP 9 17653355 17653355 single base substitution C T intron_variant LIRI-JP 9 17655411 17655411 single base substitution A T intron_variant LIRI-JP 9 17655736 17655736 single base substitution C T intron_variant LIRI-JP 9 17655979 17655979 single base substitution G A intron_variant LIRI-JP 9 17660957 17660957 single base substitution C T intron_variant LIRI-JP 9 17661227 17661227 single base substitution A G intron_variant LIRI-JP 9 17665579 17665579 single base substitution A T intron_variant LIRI-JP 9 17665795 17665795 single base substitution A G intron_variant LIRI-JP 9 17666751 17666751 single base substitution T C intron_variant LIRI-JP 9 17667119 17667119 single base substitution A G intron_variant LIRI-JP 9 17667532 17667532 single base substitution A C intron_variant LIRI-JP 9 17668710 17668710 single base substitution A G intron_variant LIRI-JP 9 17668809 17668809 single base substitution C T intron_variant LIRI-JP 9 17670408 17670408 single base substitution C T intron_variant LIRI-JP 9 17670758 17670758 single base substitution A T intron_variant LIRI-JP 9 17671325 17671325 single base substitution A G intron_variant LIRI-JP 9 17671818 17671818 single base substitution C T intron_variant LIRI-JP 9 17673292 17673292 single base substitution A G intron_variant LIRI-JP 9 17674106 17674106 single base substitution G C intron_variant LIRI-JP 9 17675723 17675723 single base substitution T C intron_variant LIRI-JP 9 17675838 17675838 single base substitution G T intron_variant LIRI-JP 9 17678930 17678930 single base substitution A G intron_variant LIRI-JP 9 17681079 17681079 single base substitution C A intron_variant LIRI-JP 9 17681155 17681155 single base substitution A T intron_variant LIRI-JP 9 17681401 17681401 single base substitution C T intron_variant LIRI-JP 9 17682182 17682182 single base substitution G A intron_variant LIRI-JP 9 17683728 17683728 single base substitution G T intron_variant LIRI-JP 9 17683729 17683729 single base substitution G T intron_variant LIRI-JP 9 17683838 17683838 single base substitution G T intron_variant LIRI-JP 9 17684922 17684922 single base substitution G A intron_variant LIRI-JP 9 17684995 17684995 single base substitution T A intron_variant LIRI-JP 9 17687604 17687604 single base substitution A G intron_variant LIRI-JP 9 17688939 17688939 single base substitution C T intron_variant LIRI-JP 9 17689178 17689178 single base substitution C A intron_variant LIRI-JP 9 17692958 17692958 single base substitution T C intron_variant LIRI-JP 9 17696882 17696882 single base substitution A C intron_variant LIRI-JP 9 17697059 17697059 single base substitution A G intron_variant LIRI-JP 9 17697960 17697960 single base substitution C T intron_variant LIRI-JP 9 17697981 17697981 single base substitution G A intron_variant LIRI-JP 9 17699007 17699007 single base substitution G A intron_variant LIRI-JP 9 17699688 17699688 single base substitution A C intron_variant LIRI-JP 9 17699834 17699834 single base substitution A G intron_variant LIRI-JP 9 17700809 17700809 single base substitution A G intron_variant LIRI-JP 9 17702544 17702544 single base substitution A G intron_variant LIRI-JP 9 17704063 17704063 single base substitution C G intron_variant LIRI-JP 9 17704760 17704760 single base substitution T C intron_variant LIRI-JP 9 17705734 17705734 single base substitution T G intron_variant LIRI-JP 9 17705735 17705735 single base substitution G T intron_variant LIRI-JP 9 17706393 17706393 single base substitution A G intron_variant LIRI-JP 9 17706463 17706463 single base substitution C T intron_variant LIRI-JP 9 17706702 17706702 single base substitution C A intron_variant LIRI-JP 9 17709658 17709658 single base substitution A G intron_variant LIRI-JP 9 17709878 17709878 single base substitution C T intron_variant LIRI-JP 9 17711951 17711951 single base substitution C T intron_variant LIRI-JP 9 17712206 17712206 single base substitution T C intron_variant LIRI-JP 9 17712341 17712341 single base substitution G A intron_variant LIRI-JP 9 17713295 17713295 single base substitution G A intron_variant LIRI-JP 9 17713303 17713303 single base substitution T C intron_variant LIRI-JP 9 17714921 17714921 single base substitution A G intron_variant LIRI-JP 9 17715592 17715592 single base substitution C A intron_variant LIRI-JP 9 17716690 17716690 single base substitution G A intron_variant LIRI-JP 9 17716751 17716751 single base substitution G A intron_variant LIRI-JP 9 17718823 17718823 single base substitution G A intron_variant LIRI-JP 9 17718987 17718987 single base substitution T C intron_variant LIRI-JP 9 17720325 17720325 single base substitution T C intron_variant LIRI-JP 9 17720678 17720678 single base substitution A T intron_variant LIRI-JP 9 17723332 17723332 insertion of <=200bp - T intron_variant LIRI-JP 9 17726788 17726788 single base substitution A G intron_variant LIRI-JP 9 17726971 17726971 single base substitution A T intron_variant LIRI-JP 9 17727214 17727214 single base substitution G A intron_variant LIRI-JP 9 17727702 17727702 single base substitution C T intron_variant LIRI-JP 9 17727755 17727755 single base substitution G A intron_variant LIRI-JP 9 17728397 17728397 single base substitution G A intron_variant LIRI-JP 9 17729346 17729346 single base substitution A G intron_variant LIRI-JP 9 17729351 17729351 single base substitution C G intron_variant LIRI-JP 9 17729630 17729630 single base substitution T G intron_variant LIRI-JP 9 17730496 17730496 single base substitution G T intron_variant LIRI-JP 9 17731403 17731403 single base substitution G C intron_variant LIRI-JP 9 17731403 17731403 single base substitution G C upstream_gene_variant LIRI-JP 9 17733202 17733202 single base substitution T C intron_variant LIRI-JP 9 17733202 17733202 single base substitution T C upstream_gene_variant LIRI-JP 9 17733324 17733324 single base substitution G A intron_variant LIRI-JP 9 17733324 17733324 single base substitution G A upstream_gene_variant LIRI-JP 9 17734781 17734781 single base substitution A T intron_variant LIRI-JP 9 17734781 17734781 single base substitution A T upstream_gene_variant LIRI-JP 9 17735074 17735074 deletion of <=200bp T - intron_variant LIRI-JP 9 17735074 17735074 deletion of <=200bp T - upstream_gene_variant LIRI-JP 9 17735347 17735347 single base substitution C A intron_variant LIRI-JP 9 17735347 17735347 single base substitution C A upstream_gene_variant LIRI-JP 9 17735461 17735461 single base substitution G T intron_variant LIRI-JP 9 17735461 17735461 single base substitution G T upstream_gene_variant LIRI-JP 9 17737543 17737543 single base substitution C A intron_variant LIRI-JP 9 17738693 17738693 single base substitution G T intron_variant LIRI-JP 9 17739248 17739248 single base substitution A T intron_variant LIRI-JP 9 17739278 17739278 single base substitution A G intron_variant LIRI-JP 9 17739577 17739577 single base substitution G T intron_variant LIRI-JP 9 17739680 17739680 single base substitution A T intron_variant LIRI-JP 9 17740069 17740069 single base substitution C T intron_variant LIRI-JP 9 17741201 17741201 single base substitution T A intron_variant LIRI-JP 9 17741235 17741235 single base substitution T C intron_variant LIRI-JP 9 17742618 17742618 single base substitution T C intron_variant LIRI-JP 9 17743257 17743257 single base substitution A G intron_variant LIRI-JP 9 17745369 17745369 single base substitution G A intron_variant LIRI-JP 9 17745411 17745411 single base substitution T C intron_variant LIRI-JP 9 17746194 17746194 single base substitution C G intron_variant LIRI-JP 9 17747359 17747359 single base substitution C G intron_variant LIRI-JP 9 17747468 17747468 single base substitution A G intron_variant LIRI-JP 9 17748451 17748451 single base substitution G A intron_variant LIRI-JP 9 17749374 17749374 single base substitution A G intron_variant LIRI-JP 9 17749801 17749801 single base substitution C T intron_variant LIRI-JP 9 17749865 17749865 single base substitution T A intron_variant LIRI-JP 9 17750316 17750316 single base substitution A G intron_variant LIRI-JP 9 17753316 17753316 single base substitution C T intron_variant LIRI-JP 9 17753758 17753758 single base substitution C T intron_variant LIRI-JP 9 17753787 17753787 single base substitution T G intron_variant LIRI-JP 9 17754585 17754585 single base substitution G A intron_variant LIRI-JP 9 17755822 17755822 single base substitution G A 5_prime_UTR_variant LIRI-JP 9 17755822 17755822 single base substitution G A intron_variant LIRI-JP 9 17756016 17756016 single base substitution G A intron_variant LIRI-JP 9 17757131 17757131 single base substitution A G intron_variant LIRI-JP 9 17759467 17759467 single base substitution G A intron_variant LIRI-JP 9 17760029 17760029 single base substitution A G intron_variant LIRI-JP 9 17760218 17760218 single base substitution T C intron_variant LIRI-JP 9 17761077 17761077 single base substitution C A intron_variant LIRI-JP 9 17763671 17763671 single base substitution A T intron_variant LIRI-JP 9 17766014 17766014 single base substitution C T intron_variant LIRI-JP 9 17766236 17766236 single base substitution G A intron_variant LIRI-JP 9 17770541 17770541 single base substitution A G intron_variant LIRI-JP 9 17772113 17772113 single base substitution C T intron_variant LIRI-JP 9 17772532 17772532 single base substitution A G intron_variant LIRI-JP 9 17775938 17775938 single base substitution G A intron_variant LIRI-JP 9 17777535 17777535 single base substitution T C intron_variant LIRI-JP 9 17778074 17778074 single base substitution A T intron_variant LIRI-JP 9 17779379 17779379 single base substitution A G intron_variant LIRI-JP 9 17781745 17781745 single base substitution G T intron_variant LIRI-JP 9 17782924 17782924 single base substitution G A intron_variant LIRI-JP 9 17783950 17783950 single base substitution C T intron_variant LIRI-JP 9 17784351 17784351 single base substitution C T intron_variant LIRI-JP 9 17787665 17787665 single base substitution A G intron_variant LIRI-JP 9 17787883 17787883 single base substitution T A intron_variant LIRI-JP 9 17789563 17789563 single base substitution T C intron_variant LIRI-JP 9 17791343 17791343 single base substitution G C intron_variant LIRI-JP 9 17793926 17793926 single base substitution G A intron_variant LIRI-JP 9 17794393 17794393 single base substitution G T intron_variant LIRI-JP 9 17795480 17795480 single base substitution C T intron_variant LIRI-JP 9 17796262 17796262 insertion of <=200bp - A 3_prime_UTR_variant LIRI-JP 9 17796262 17796262 insertion of <=200bp - A downstream_gene_variant LIRI-JP 9 17796557 17796557 single base substitution G A 3_prime_UTR_variant LIRI-JP 9 17796557 17796557 single base substitution G A downstream_gene_variant LIRI-JP 9 17797084 17797084 insertion of <=200bp - A 3_prime_UTR_variant LIRI-JP 9 17797084 17797084 insertion of <=200bp - A downstream_gene_variant LIRI-JP 9 17797233 17797233 single base substitution T G downstream_gene_variant LIRI-JP 9 17798540 17798540 single base substitution A C downstream_gene_variant LIRI-JP 9 17801363 17801363 single base substitution G A downstream_gene_variant LUSC-KR 9 17578015 17578015 single base substitution C A upstream_gene_variant LUSC-KR 9 17581323 17581323 single base substitution G C intron_variant LUSC-KR 9 17583232 17583232 single base substitution T C intron_variant LUSC-KR 9 17583658 17583658 single base substitution A G intron_variant LUSC-KR 9 17585057 17585057 single base substitution A G intron_variant LUSC-KR 9 17587673 17587673 single base substitution C T intron_variant LUSC-KR 9 17590270 17590270 single base substitution C A intron_variant LUSC-KR 9 17591542 17591542 single base substitution T C intron_variant LUSC-KR 9 17592027 17592027 single base substitution G C intron_variant LUSC-KR 9 17592495 17592495 single base substitution A G intron_variant LUSC-KR 9 17592948 17592948 single base substitution A T intron_variant LUSC-KR 9 17593487 17593487 single base substitution G A intron_variant LUSC-KR 9 17595555 17595555 single base substitution A T intron_variant LUSC-KR 9 17596642 17596642 single base substitution C T intron_variant LUSC-KR 9 17597069 17597069 single base substitution G T intron_variant LUSC-KR 9 17599451 17599451 single base substitution G T intron_variant LUSC-KR 9 17600437 17600437 single base substitution A T intron_variant LUSC-KR 9 17600819 17600819 single base substitution G T intron_variant LUSC-KR 9 17603496 17603496 single base substitution G A intron_variant LUSC-KR 9 17608164 17608164 single base substitution G T intron_variant LUSC-KR 9 17608986 17608986 single base substitution C T intron_variant LUSC-KR 9 17609926 17609926 single base substitution A T intron_variant LUSC-KR 9 17609972 17609972 single base substitution G C intron_variant LUSC-KR 9 17613876 17613876 single base substitution C A intron_variant LUSC-KR 9 17615990 17615990 single base substitution A G intron_variant LUSC-KR 9 17618044 17618044 single base substitution A G intron_variant LUSC-KR 9 17621169 17621169 single base substitution A G intron_variant LUSC-KR 9 17622442 17622442 single base substitution C A intron_variant LUSC-KR 9 17622443 17622443 single base substitution C T intron_variant LUSC-KR 9 17622583 17622583 single base substitution A G intron_variant LUSC-KR 9 17623000 17623000 single base substitution T G intron_variant LUSC-KR 9 17623181 17623181 single base substitution A T intron_variant LUSC-KR 9 17623719 17623719 single base substitution C A intron_variant LUSC-KR 9 17623721 17623721 single base substitution C A intron_variant LUSC-KR 9 17623831 17623831 single base substitution G T intron_variant LUSC-KR 9 17624949 17624949 single base substitution G T intron_variant LUSC-KR 9 17626372 17626372 single base substitution A T intron_variant LUSC-KR 9 17626501 17626501 single base substitution C A intron_variant LUSC-KR 9 17626554 17626554 single base substitution A G intron_variant LUSC-KR 9 17630525 17630525 single base substitution C A downstream_gene_variant LUSC-KR 9 17630525 17630525 single base substitution C A intron_variant LUSC-KR 9 17633076 17633076 single base substitution C T downstream_gene_variant LUSC-KR 9 17633076 17633076 single base substitution C T intron_variant LUSC-KR 9 17633714 17633714 single base substitution A T downstream_gene_variant LUSC-KR 9 17633714 17633714 single base substitution A T intron_variant LUSC-KR 9 17634755 17634755 single base substitution T A downstream_gene_variant LUSC-KR 9 17634755 17634755 single base substitution T A intron_variant LUSC-KR 9 17634862 17634862 single base substitution G A downstream_gene_variant LUSC-KR 9 17634862 17634862 single base substitution G A intron_variant LUSC-KR 9 17635159 17635159 single base substitution C A downstream_gene_variant LUSC-KR 9 17635159 17635159 single base substitution C A intron_variant LUSC-KR 9 17638012 17638012 single base substitution G A intron_variant LUSC-KR 9 17638702 17638702 single base substitution T C intron_variant LUSC-KR 9 17641614 17641614 single base substitution G T intron_variant LUSC-KR 9 17641824 17641824 single base substitution T A intron_variant LUSC-KR 9 17642360 17642360 single base substitution G T intron_variant LUSC-KR 9 17644334 17644334 single base substitution G T intron_variant LUSC-KR 9 17646589 17646589 single base substitution T C intron_variant LUSC-KR 9 17647249 17647249 single base substitution C T intron_variant LUSC-KR 9 17653567 17653567 single base substitution G A intron_variant LUSC-KR 9 17658514 17658514 single base substitution T C intron_variant LUSC-KR 9 17659558 17659558 single base substitution G C intron_variant LUSC-KR 9 17659754 17659754 single base substitution C G intron_variant LUSC-KR 9 17660860 17660860 single base substitution G A intron_variant LUSC-KR 9 17661627 17661627 single base substitution A G intron_variant LUSC-KR 9 17662183 17662183 single base substitution T C intron_variant LUSC-KR 9 17663807 17663807 single base substitution A G intron_variant LUSC-KR 9 17665689 17665689 single base substitution G T intron_variant LUSC-KR 9 17666506 17666506 single base substitution G C intron_variant LUSC-KR 9 17666697 17666697 single base substitution C A intron_variant LUSC-KR 9 17666788 17666788 single base substitution A G intron_variant LUSC-KR 9 17668208 17668208 single base substitution G C intron_variant LUSC-KR 9 17673248 17673248 single base substitution G C intron_variant LUSC-KR 9 17673902 17673902 single base substitution G A intron_variant LUSC-KR 9 17673959 17673959 single base substitution A C intron_variant LUSC-KR 9 17674036 17674036 single base substitution G T intron_variant LUSC-KR 9 17674306 17674306 single base substitution C T intron_variant LUSC-KR 9 17676923 17676923 single base substitution T G intron_variant LUSC-KR 9 17676972 17676972 single base substitution G C intron_variant LUSC-KR 9 17678016 17678016 single base substitution C A intron_variant LUSC-KR 9 17680589 17680589 single base substitution C T intron_variant LUSC-KR 9 17683072 17683072 single base substitution G T intron_variant LUSC-KR 9 17683288 17683288 single base substitution G T intron_variant LUSC-KR 9 17683848 17683848 single base substitution A G intron_variant LUSC-KR 9 17684045 17684045 single base substitution G A intron_variant LUSC-KR 9 17684563 17684563 single base substitution G C intron_variant LUSC-KR 9 17686077 17686077 single base substitution C A intron_variant LUSC-KR 9 17686265 17686265 single base substitution A C intron_variant LUSC-KR 9 17687055 17687055 single base substitution C T intron_variant LUSC-KR 9 17687661 17687661 single base substitution A G intron_variant LUSC-KR 9 17688468 17688468 single base substitution C A intron_variant LUSC-KR 9 17691521 17691521 single base substitution C T intron_variant LUSC-KR 9 17697517 17697517 single base substitution G T intron_variant LUSC-KR 9 17698684 17698684 single base substitution C T intron_variant LUSC-KR 9 17701275 17701275 single base substitution A G intron_variant LUSC-KR 9 17701289 17701289 single base substitution A C intron_variant LUSC-KR 9 17702784 17702784 single base substitution A G intron_variant LUSC-KR 9 17704475 17704475 single base substitution A G intron_variant LUSC-KR 9 17704510 17704510 single base substitution C T intron_variant LUSC-KR 9 17704937 17704937 single base substitution G C intron_variant LUSC-KR 9 17704993 17704993 single base substitution A G intron_variant LUSC-KR 9 17705045 17705045 single base substitution A T intron_variant LUSC-KR 9 17707001 17707001 single base substitution G C intron_variant LUSC-KR 9 17709736 17709736 single base substitution C T intron_variant LUSC-KR 9 17710093 17710093 single base substitution G T intron_variant LUSC-KR 9 17712937 17712937 single base substitution C T intron_variant LUSC-KR 9 17717310 17717310 single base substitution C T intron_variant LUSC-KR 9 17718870 17718870 single base substitution G T intron_variant LUSC-KR 9 17719820 17719820 single base substitution T C intron_variant LUSC-KR 9 17724166 17724166 single base substitution C T intron_variant LUSC-KR 9 17725111 17725111 single base substitution G T intron_variant LUSC-KR 9 17725883 17725883 single base substitution G C intron_variant LUSC-KR 9 17727959 17727959 single base substitution G C intron_variant LUSC-KR 9 17730182 17730182 single base substitution G T intron_variant LUSC-KR 9 17730460 17730460 single base substitution C A intron_variant LUSC-KR 9 17731297 17731297 single base substitution G T intron_variant LUSC-KR 9 17731297 17731297 single base substitution G T upstream_gene_variant LUSC-KR 9 17731298 17731298 single base substitution A T intron_variant LUSC-KR 9 17731298 17731298 single base substitution A T upstream_gene_variant LUSC-KR 9 17736467 17736467 single base substitution C T intron_variant LUSC-KR 9 17737150 17737150 single base substitution T A intron_variant LUSC-KR 9 17737333 17737333 single base substitution A T intron_variant LUSC-KR 9 17738389 17738389 single base substitution T C intron_variant LUSC-KR 9 17740975 17740975 single base substitution G C intron_variant LUSC-KR 9 17742721 17742721 single base substitution A T intron_variant LUSC-KR 9 17743209 17743209 single base substitution A G intron_variant LUSC-KR 9 17747648 17747648 single base substitution C T intron_variant LUSC-KR 9 17749958 17749958 single base substitution G T intron_variant LUSC-KR 9 17750133 17750133 single base substitution G A intron_variant LUSC-KR 9 17751148 17751148 single base substitution G T intron_variant LUSC-KR 9 17755431 17755431 single base substitution G T intron_variant LUSC-KR 9 17758273 17758273 single base substitution G T intron_variant LUSC-KR 9 17760485 17760485 single base substitution T A intron_variant LUSC-KR 9 17761333 17761333 single base substitution G T intron_variant LUSC-KR 9 17762414 17762414 single base substitution G A intron_variant LUSC-KR 9 17765187 17765187 single base substitution G C intron_variant LUSC-KR 9 17767698 17767698 single base substitution G C intron_variant LUSC-KR 9 17771250 17771250 single base substitution G T intron_variant LUSC-KR 9 17773611 17773611 single base substitution C A intron_variant LUSC-KR 9 17774891 17774891 single base substitution G A intron_variant LUSC-KR 9 17775655 17775655 single base substitution G T intron_variant LUSC-KR 9 17775656 17775656 single base substitution G T intron_variant LUSC-KR 9 17776167 17776167 single base substitution T C intron_variant LUSC-KR 9 17779178 17779178 single base substitution A G intron_variant LUSC-KR 9 17779214 17779214 single base substitution G T intron_variant LUSC-KR 9 17780757 17780757 single base substitution C G intron_variant LUSC-KR 9 17780769 17780769 single base substitution G A intron_variant LUSC-KR 9 17780794 17780794 single base substitution C G intron_variant LUSC-KR 9 17785623 17785623 single base substitution C T intron_variant LUSC-KR 9 17787460 17787460 single base substitution C G missense_variant N138K 414C>G LUSC-KR 9 17787460 17787460 single base substitution C G missense_variant N91K 273C>G LUSC-KR 9 17788126 17788126 single base substitution G T intron_variant LUSC-KR 9 17790132 17790132 single base substitution A G intron_variant LUSC-KR 9 17791769 17791769 single base substitution A G intron_variant LUSC-KR 9 17793079 17793079 single base substitution T A intron_variant LUSC-US 9 17761492 17761492 single base substitution C A missense_variant L11I 31C>A LUSC-US 9 17761492 17761492 single base substitution C A missense_variant L58I 172C>A LUSC-US 9 17789429 17789429 single base substitution G A missense_variant D122N 364G>A LUSC-US 9 17789429 17789429 single base substitution G A missense_variant D169N 505G>A LUSC-US 9 17795590 17795590 single base substitution C A missense_variant P256H 767C>A LUSC-US 9 17795590 17795590 single base substitution C A missense_variant P303H 908C>A MALY-DE 9 17575663 17575663 single base substitution C A upstream_gene_variant MALY-DE 9 17576890 17576890 single base substitution C A upstream_gene_variant MALY-DE 9 17577564 17577564 single base substitution C T upstream_gene_variant MALY-DE 9 17580413 17580413 single base substitution C A intron_variant MALY-DE 9 17581877 17581877 single base substitution A C intron_variant MALY-DE 9 17582856 17582856 single base substitution T C intron_variant MALY-DE 9 17589440 17589440 single base substitution C A intron_variant MALY-DE 9 17589447 17589447 insertion of <=200bp - G intron_variant MALY-DE 9 17590540 17590540 single base substitution T C intron_variant MALY-DE 9 17594006 17594006 single base substitution C T intron_variant MALY-DE 9 17594231 17594231 single base substitution T C intron_variant MALY-DE 9 17595006 17595006 single base substitution T G intron_variant MALY-DE 9 17599575 17599575 single base substitution T G intron_variant MALY-DE 9 17602048 17602048 single base substitution C A intron_variant MALY-DE 9 17605085 17605085 single base substitution C A intron_variant MALY-DE 9 17608292 17608292 single base substitution C T intron_variant MALY-DE 9 17609660 17609660 single base substitution G A intron_variant MALY-DE 9 17611111 17611111 single base substitution A T intron_variant MALY-DE 9 17612370 17612370 single base substitution T G intron_variant MALY-DE 9 17613036 17613036 single base substitution G T intron_variant MALY-DE 9 17613203 17613203 single base substitution A C intron_variant MALY-DE 9 17613719 17613719 single base substitution C T intron_variant MALY-DE 9 17614708 17614708 single base substitution C T intron_variant MALY-DE 9 17617855 17617855 single base substitution G A intron_variant MALY-DE 9 17618780 17618780 single base substitution T G intron_variant MALY-DE 9 17619344 17619344 insertion of <=200bp - A intron_variant MALY-DE 9 17620238 17620238 single base substitution G T intron_variant MALY-DE 9 17621033 17621033 single base substitution G A intron_variant MALY-DE 9 17624614 17624614 single base substitution T C intron_variant MALY-DE 9 17624930 17624930 single base substitution A C intron_variant MALY-DE 9 17627091 17627091 single base substitution T G intron_variant MALY-DE 9 17627181 17627181 single base substitution T C intron_variant MALY-DE 9 17627819 17627819 single base substitution G T intron_variant MALY-DE 9 17627995 17627995 single base substitution A G intron_variant MALY-DE 9 17628623 17628623 insertion of <=200bp - T intron_variant MALY-DE 9 17628975 17628975 single base substitution T C intron_variant MALY-DE 9 17632515 17632515 single base substitution G T downstream_gene_variant MALY-DE 9 17632515 17632515 single base substitution G T intron_variant MALY-DE 9 17634139 17634139 single base substitution G A downstream_gene_variant MALY-DE 9 17634139 17634139 single base substitution G A intron_variant MALY-DE 9 17635886 17635886 single base substitution T C intron_variant MALY-DE 9 17636905 17636905 single base substitution G A intron_variant MALY-DE 9 17637455 17637455 single base substitution T A intron_variant MALY-DE 9 17640793 17640793 single base substitution G A intron_variant MALY-DE 9 17641359 17641359 insertion of <=200bp - T intron_variant MALY-DE 9 17644774 17644774 single base substitution G A intron_variant MALY-DE 9 17645628 17645628 single base substitution A G intron_variant MALY-DE 9 17648829 17648829 single base substitution A G intron_variant MALY-DE 9 17651021 17651021 single base substitution T G intron_variant MALY-DE 9 17651022 17651022 single base substitution G T intron_variant MALY-DE 9 17651654 17651654 single base substitution A G intron_variant MALY-DE 9 17652228 17652228 single base substitution C A intron_variant MALY-DE 9 17652781 17652781 single base substitution G A intron_variant MALY-DE 9 17655433 17655433 single base substitution A T intron_variant MALY-DE 9 17656060 17656060 single base substitution A T intron_variant MALY-DE 9 17656876 17656876 single base substitution G A intron_variant MALY-DE 9 17656951 17656951 deletion of <=200bp A - intron_variant MALY-DE 9 17659591 17659591 single base substitution C A intron_variant MALY-DE 9 17660574 17660574 single base substitution G T intron_variant MALY-DE 9 17663011 17663011 single base substitution T G intron_variant MALY-DE 9 17664071 17664071 single base substitution A C intron_variant MALY-DE 9 17667850 17667850 single base substitution G T intron_variant MALY-DE 9 17672684 17672684 single base substitution A C intron_variant MALY-DE 9 17673775 17673775 single base substitution C A intron_variant MALY-DE 9 17675784 17675784 single base substitution A C intron_variant MALY-DE 9 17676798 17676798 single base substitution G T intron_variant MALY-DE 9 17676828 17676828 single base substitution C T intron_variant MALY-DE 9 17681134 17681134 single base substitution A G intron_variant MALY-DE 9 17683141 17683141 single base substitution C A intron_variant MALY-DE 9 17683450 17683450 single base substitution G A intron_variant MALY-DE 9 17683648 17683648 single base substitution T A intron_variant MALY-DE 9 17688336 17688336 insertion of <=200bp - A intron_variant MALY-DE 9 17693211 17693211 single base substitution G T intron_variant MALY-DE 9 17693299 17693299 single base substitution T G intron_variant MALY-DE 9 17694647 17694647 single base substitution A G intron_variant MALY-DE 9 17694731 17694731 single base substitution T C intron_variant MALY-DE 9 17695273 17695273 single base substitution T G intron_variant MALY-DE 9 17695583 17695583 single base substitution C G intron_variant MALY-DE 9 17695899 17695899 single base substitution T C intron_variant MALY-DE 9 17696181 17696181 deletion of <=200bp T - intron_variant MALY-DE 9 17696846 17696846 single base substitution A C intron_variant MALY-DE 9 17697245 17697245 single base substitution G A intron_variant MALY-DE 9 17699235 17699235 single base substitution A G intron_variant MALY-DE 9 17699556 17699556 single base substitution T C intron_variant MALY-DE 9 17702951 17702951 single base substitution C G intron_variant MALY-DE 9 17703243 17703243 single base substitution C T intron_variant MALY-DE 9 17704323 17704323 single base substitution C G intron_variant MALY-DE 9 17705829 17705829 single base substitution G A intron_variant MALY-DE 9 17707595 17707595 single base substitution T C intron_variant MALY-DE 9 17707710 17707710 single base substitution A G intron_variant MALY-DE 9 17707817 17707817 single base substitution A G intron_variant MALY-DE 9 17709246 17709246 single base substitution A T intron_variant MALY-DE 9 17720340 17720340 single base substitution G T intron_variant MALY-DE 9 17721951 17721951 single base substitution C T intron_variant MALY-DE 9 17722262 17722262 single base substitution T A intron_variant MALY-DE 9 17722645 17722645 deletion of <=200bp T - intron_variant MALY-DE 9 17722654 17722654 single base substitution T A intron_variant MALY-DE 9 17723702 17723702 single base substitution T C intron_variant MALY-DE 9 17724745 17724745 single base substitution G A intron_variant MALY-DE 9 17726856 17726856 single base substitution A C intron_variant MALY-DE 9 17729998 17729998 single base substitution A C intron_variant MALY-DE 9 17731003 17731003 single base substitution T G intron_variant MALY-DE 9 17731003 17731003 single base substitution T G upstream_gene_variant MALY-DE 9 17738543 17738543 single base substitution A T intron_variant MALY-DE 9 17738575 17738575 single base substitution G T intron_variant MALY-DE 9 17738673 17738673 single base substitution T G intron_variant MALY-DE 9 17740210 17740210 single base substitution G A intron_variant MALY-DE 9 17743133 17743133 single base substitution T G intron_variant MALY-DE 9 17743975 17743975 single base substitution G T intron_variant MALY-DE 9 17743999 17743999 single base substitution T C intron_variant MALY-DE 9 17744581 17744581 single base substitution T C intron_variant MALY-DE 9 17745599 17745599 single base substitution T A intron_variant MALY-DE 9 17748366 17748366 single base substitution A C intron_variant MALY-DE 9 17748431 17748431 single base substitution T A intron_variant MALY-DE 9 17748927 17748927 insertion of <=200bp - A intron_variant MALY-DE 9 17750027 17750027 single base substitution T C intron_variant MALY-DE 9 17750431 17750431 single base substitution C T intron_variant MALY-DE 9 17750467 17750467 single base substitution C T intron_variant MALY-DE 9 17750863 17750863 single base substitution G T intron_variant MALY-DE 9 17752281 17752281 single base substitution T C intron_variant MALY-DE 9 17753920 17753920 single base substitution T G intron_variant MALY-DE 9 17754473 17754473 single base substitution C A intron_variant MALY-DE 9 17756310 17756310 deletion of <=200bp T - intron_variant MALY-DE 9 17758640 17758640 single base substitution T G intron_variant MALY-DE 9 17759759 17759759 single base substitution A C intron_variant MALY-DE 9 17759953 17759953 single base substitution C A intron_variant MALY-DE 9 17765525 17765525 single base substitution T C intron_variant MALY-DE 9 17770932 17770932 single base substitution G T intron_variant MALY-DE 9 17773197 17773197 single base substitution G A intron_variant MALY-DE 9 17773513 17773513 insertion of <=200bp - T intron_variant MALY-DE 9 17774479 17774479 single base substitution T G intron_variant MALY-DE 9 17777383 17777383 single base substitution T G intron_variant MALY-DE 9 17777476 17777476 single base substitution G A intron_variant MALY-DE 9 17777674 17777674 single base substitution G A intron_variant MALY-DE 9 17779767 17779767 single base substitution T G intron_variant MALY-DE 9 17784918 17784918 single base substitution C T intron_variant MALY-DE 9 17785828 17785828 single base substitution T G intron_variant MALY-DE 9 17788424 17788424 single base substitution C A intron_variant MALY-DE 9 17791720 17791720 single base substitution T G intron_variant MALY-DE 9 17793581 17793581 single base substitution T C intron_variant MALY-DE 9 17794389 17794389 single base substitution C T intron_variant MALY-DE 9 17794481 17794481 single base substitution C T intron_variant MALY-DE 9 17796993 17796993 single base substitution A C 3_prime_UTR_variant MALY-DE 9 17796993 17796993 single base substitution A C downstream_gene_variant MALY-DE 9 17797283 17797283 single base substitution G A downstream_gene_variant MALY-DE 9 17799974 17799974 single base substitution T C downstream_gene_variant MELA-AU 9 17574412 17574412 single base substitution G A upstream_gene_variant MELA-AU 9 17574433 17574433 single base substitution G A upstream_gene_variant MELA-AU 9 17574461 17574461 single base substitution G A upstream_gene_variant MELA-AU 9 17574624 17574624 single base substitution G A upstream_gene_variant MELA-AU 9 17574832 17574832 single base substitution C T upstream_gene_variant MELA-AU 9 17575415 17575415 single base substitution C A upstream_gene_variant MELA-AU 9 17575566 17575566 single base substitution C T upstream_gene_variant MELA-AU 9 17575669 17575669 single base substitution C T upstream_gene_variant MELA-AU 9 17575826 17575826 single base substitution C T upstream_gene_variant MELA-AU 9 17575971 17575971 single base substitution C T upstream_gene_variant MELA-AU 9 17576121 17576121 single base substitution G A upstream_gene_variant MELA-AU 9 17576835 17576835 single base substitution G A upstream_gene_variant MELA-AU 9 17576869 17576869 single base substitution C T upstream_gene_variant MELA-AU 9 17577088 17577088 single base substitution T C upstream_gene_variant MELA-AU 9 17577251 17577251 single base substitution C T upstream_gene_variant MELA-AU 9 17577309 17577309 single base substitution A G upstream_gene_variant MELA-AU 9 17578669 17578669 single base substitution G A upstream_gene_variant MELA-AU 9 17579816 17579817 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 17580783 17580783 single base substitution C T intron_variant MELA-AU 9 17580940 17580940 single base substitution G A intron_variant MELA-AU 9 17581304 17581304 single base substitution C T intron_variant MELA-AU 9 17581429 17581429 single base substitution C T intron_variant MELA-AU 9 17581586 17581586 single base substitution T G intron_variant MELA-AU 9 17581588 17581588 single base substitution C T intron_variant MELA-AU 9 17581646 17581646 single base substitution C T intron_variant MELA-AU 9 17581916 17581916 single base substitution C T intron_variant MELA-AU 9 17582065 17582065 single base substitution G A intron_variant MELA-AU 9 17582098 17582098 single base substitution G A intron_variant MELA-AU 9 17582960 17582960 single base substitution G T intron_variant MELA-AU 9 17583335 17583335 single base substitution C T intron_variant MELA-AU 9 17583415 17583415 single base substitution G A intron_variant MELA-AU 9 17583677 17583677 single base substitution G A intron_variant MELA-AU 9 17583791 17583791 single base substitution C T intron_variant MELA-AU 9 17584083 17584083 single base substitution C T intron_variant MELA-AU 9 17584202 17584202 single base substitution G A intron_variant MELA-AU 9 17584576 17584576 single base substitution C T intron_variant MELA-AU 9 17584783 17584783 single base substitution G A intron_variant MELA-AU 9 17584893 17584893 single base substitution C T intron_variant MELA-AU 9 17584919 17584919 single base substitution T A intron_variant MELA-AU 9 17585346 17585346 single base substitution G A intron_variant MELA-AU 9 17585373 17585373 single base substitution G A intron_variant MELA-AU 9 17585418 17585418 single base substitution C T intron_variant MELA-AU 9 17585834 17585834 single base substitution G A intron_variant MELA-AU 9 17585865 17585865 single base substitution G A intron_variant MELA-AU 9 17586312 17586312 single base substitution T C intron_variant MELA-AU 9 17586527 17586527 single base substitution G A intron_variant MELA-AU 9 17586597 17586597 single base substitution G A intron_variant MELA-AU 9 17586731 17586731 single base substitution G A intron_variant MELA-AU 9 17586802 17586802 single base substitution G A intron_variant MELA-AU 9 17587009 17587009 single base substitution G A intron_variant MELA-AU 9 17587154 17587154 single base substitution C T intron_variant MELA-AU 9 17587459 17587459 single base substitution C T intron_variant MELA-AU 9 17587512 17587512 single base substitution G A intron_variant MELA-AU 9 17587616 17587616 single base substitution C T intron_variant MELA-AU 9 17587640 17587640 single base substitution C T intron_variant MELA-AU 9 17587673 17587673 single base substitution C T intron_variant MELA-AU 9 17587731 17587731 single base substitution C A intron_variant MELA-AU 9 17587918 17587918 single base substitution A T intron_variant MELA-AU 9 17588006 17588006 single base substitution C T intron_variant MELA-AU 9 17588109 17588109 single base substitution C T intron_variant MELA-AU 9 17588187 17588187 single base substitution C T intron_variant MELA-AU 9 17588614 17588614 single base substitution C T intron_variant MELA-AU 9 17588840 17588840 single base substitution G A intron_variant MELA-AU 9 17589445 17589445 single base substitution C T intron_variant MELA-AU 9 17589638 17589638 single base substitution C T intron_variant MELA-AU 9 17589660 17589660 single base substitution G A intron_variant MELA-AU 9 17589744 17589744 single base substitution C T intron_variant MELA-AU 9 17590319 17590319 single base substitution G A intron_variant MELA-AU 9 17590575 17590575 single base substitution C T intron_variant MELA-AU 9 17590586 17590586 single base substitution C T intron_variant MELA-AU 9 17590676 17590676 single base substitution C T intron_variant MELA-AU 9 17590733 17590733 single base substitution G A intron_variant MELA-AU 9 17590754 17590754 single base substitution A T intron_variant MELA-AU 9 17590899 17590899 single base substitution G A intron_variant MELA-AU 9 17591004 17591004 single base substitution C T intron_variant MELA-AU 9 17591243 17591243 single base substitution C T intron_variant MELA-AU 9 17591271 17591271 single base substitution G A intron_variant MELA-AU 9 17591571 17591571 single base substitution G A intron_variant MELA-AU 9 17591675 17591675 single base substitution C T intron_variant MELA-AU 9 17592278 17592278 single base substitution C T intron_variant MELA-AU 9 17592380 17592380 single base substitution C T intron_variant MELA-AU 9 17592437 17592437 single base substitution C A intron_variant MELA-AU 9 17592465 17592465 single base substitution G A intron_variant MELA-AU 9 17592472 17592472 single base substitution C T intron_variant MELA-AU 9 17592713 17592713 single base substitution C T intron_variant MELA-AU 9 17592726 17592726 single base substitution C T intron_variant MELA-AU 9 17592909 17592909 single base substitution G A intron_variant MELA-AU 9 17593460 17593460 single base substitution C T intron_variant MELA-AU 9 17593874 17593874 single base substitution C T intron_variant MELA-AU 9 17593937 17593937 single base substitution C T intron_variant MELA-AU 9 17594038 17594038 single base substitution T C intron_variant MELA-AU 9 17594153 17594153 single base substitution C T intron_variant MELA-AU 9 17594462 17594462 single base substitution G A intron_variant MELA-AU 9 17594568 17594568 single base substitution G A intron_variant MELA-AU 9 17594629 17594629 single base substitution G A intron_variant MELA-AU 9 17594643 17594643 single base substitution A G intron_variant MELA-AU 9 17594741 17594741 single base substitution G A intron_variant MELA-AU 9 17594783 17594783 single base substitution C T intron_variant MELA-AU 9 17594910 17594910 single base substitution C T intron_variant MELA-AU 9 17595004 17595004 single base substitution A G intron_variant MELA-AU 9 17595008 17595008 single base substitution C T intron_variant MELA-AU 9 17595087 17595087 single base substitution C T intron_variant MELA-AU 9 17595364 17595364 single base substitution G A intron_variant MELA-AU 9 17595383 17595383 single base substitution C T intron_variant MELA-AU 9 17595479 17595479 single base substitution G A intron_variant MELA-AU 9 17595543 17595543 single base substitution G A intron_variant MELA-AU 9 17595552 17595552 single base substitution C T intron_variant MELA-AU 9 17596015 17596015 single base substitution C T intron_variant MELA-AU 9 17596401 17596401 single base substitution C T intron_variant MELA-AU 9 17596409 17596409 single base substitution G A intron_variant MELA-AU 9 17596782 17596782 single base substitution G A intron_variant MELA-AU 9 17597019 17597019 single base substitution G A intron_variant MELA-AU 9 17597267 17597267 single base substitution C T intron_variant MELA-AU 9 17597624 17597624 single base substitution C T intron_variant MELA-AU 9 17597739 17597739 single base substitution C T intron_variant MELA-AU 9 17597740 17597740 single base substitution C T intron_variant MELA-AU 9 17597831 17597831 single base substitution C T intron_variant MELA-AU 9 17597860 17597860 single base substitution T C intron_variant MELA-AU 9 17597902 17597902 single base substitution C T intron_variant MELA-AU 9 17597966 17597966 single base substitution C T intron_variant MELA-AU 9 17597975 17597975 single base substitution C T intron_variant MELA-AU 9 17598116 17598116 single base substitution C T intron_variant MELA-AU 9 17598981 17598981 single base substitution G A intron_variant MELA-AU 9 17599076 17599076 single base substitution G A intron_variant MELA-AU 9 17599107 17599107 single base substitution A T intron_variant MELA-AU 9 17599853 17599853 single base substitution C T intron_variant MELA-AU 9 17600042 17600042 single base substitution C T intron_variant MELA-AU 9 17600208 17600208 single base substitution C T intron_variant MELA-AU 9 17600511 17600511 single base substitution G A intron_variant MELA-AU 9 17600646 17600646 single base substitution G A intron_variant MELA-AU 9 17600865 17600865 single base substitution G A intron_variant MELA-AU 9 17601077 17601077 single base substitution C T intron_variant MELA-AU 9 17601290 17601290 single base substitution G A intron_variant MELA-AU 9 17601300 17601300 single base substitution G A intron_variant MELA-AU 9 17601712 17601712 single base substitution G A intron_variant MELA-AU 9 17602335 17602335 single base substitution C T intron_variant MELA-AU 9 17602427 17602427 single base substitution C T intron_variant MELA-AU 9 17602681 17602681 single base substitution A T intron_variant MELA-AU 9 17602699 17602699 single base substitution C T intron_variant MELA-AU 9 17603051 17603051 single base substitution G T intron_variant MELA-AU 9 17603406 17603407 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 17603652 17603652 single base substitution G A intron_variant MELA-AU 9 17603656 17603656 single base substitution C T intron_variant MELA-AU 9 17603740 17603740 single base substitution C T intron_variant MELA-AU 9 17603772 17603772 single base substitution C T intron_variant MELA-AU 9 17603918 17603918 single base substitution A C intron_variant MELA-AU 9 17603995 17603995 single base substitution G A intron_variant MELA-AU 9 17604130 17604130 single base substitution C T intron_variant MELA-AU 9 17604201 17604201 single base substitution C T intron_variant MELA-AU 9 17604356 17604356 single base substitution C A intron_variant MELA-AU 9 17604594 17604594 single base substitution G A intron_variant MELA-AU 9 17604923 17604923 single base substitution G A intron_variant MELA-AU 9 17604952 17604952 single base substitution G A intron_variant MELA-AU 9 17604993 17604993 single base substitution G A intron_variant MELA-AU 9 17605030 17605030 single base substitution G A intron_variant MELA-AU 9 17605506 17605506 single base substitution G A intron_variant MELA-AU 9 17605572 17605572 single base substitution A T intron_variant MELA-AU 9 17605717 17605717 single base substitution A C intron_variant MELA-AU 9 17605866 17605866 single base substitution C T intron_variant MELA-AU 9 17605998 17605999 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 17606099 17606099 insertion of <=200bp - GTTC intron_variant MELA-AU 9 17606280 17606280 single base substitution G A intron_variant MELA-AU 9 17606306 17606306 single base substitution G T intron_variant MELA-AU 9 17607174 17607174 single base substitution C T intron_variant MELA-AU 9 17607413 17607413 single base substitution G A intron_variant MELA-AU 9 17607549 17607549 single base substitution C T intron_variant MELA-AU 9 17607757 17607757 single base substitution C T intron_variant MELA-AU 9 17608898 17608898 single base substitution C T intron_variant MELA-AU 9 17608956 17608956 single base substitution C T intron_variant MELA-AU 9 17609042 17609042 single base substitution G A intron_variant MELA-AU 9 17609075 17609075 single base substitution G A intron_variant MELA-AU 9 17609193 17609193 single base substitution G A intron_variant MELA-AU 9 17609453 17609453 single base substitution A T intron_variant MELA-AU 9 17609494 17609494 single base substitution G A intron_variant MELA-AU 9 17609635 17609635 single base substitution G C intron_variant MELA-AU 9 17609709 17609709 single base substitution G A intron_variant MELA-AU 9 17609944 17609944 single base substitution G A intron_variant MELA-AU 9 17610239 17610239 single base substitution C T intron_variant MELA-AU 9 17610516 17610516 single base substitution C T intron_variant MELA-AU 9 17610691 17610691 single base substitution G A intron_variant MELA-AU 9 17611276 17611276 single base substitution C T intron_variant MELA-AU 9 17611500 17611500 single base substitution T C intron_variant MELA-AU 9 17611624 17611624 single base substitution C T intron_variant MELA-AU 9 17611750 17611750 single base substitution G A intron_variant MELA-AU 9 17611801 17611801 single base substitution G A intron_variant MELA-AU 9 17612034 17612034 single base substitution G A intron_variant MELA-AU 9 17612711 17612711 single base substitution A G intron_variant MELA-AU 9 17613199 17613199 single base substitution G A intron_variant MELA-AU 9 17613271 17613271 single base substitution C T intron_variant MELA-AU 9 17613383 17613383 single base substitution T C intron_variant MELA-AU 9 17613903 17613903 single base substitution C T intron_variant MELA-AU 9 17613909 17613909 single base substitution T C intron_variant MELA-AU 9 17614323 17614323 single base substitution C T intron_variant MELA-AU 9 17614372 17614372 single base substitution C T intron_variant MELA-AU 9 17614436 17614436 single base substitution G A intron_variant MELA-AU 9 17614643 17614643 single base substitution G A intron_variant MELA-AU 9 17614717 17614717 single base substitution C T intron_variant MELA-AU 9 17614724 17614724 single base substitution C T intron_variant MELA-AU 9 17614768 17614768 single base substitution C T intron_variant MELA-AU 9 17614937 17614937 single base substitution C T intron_variant MELA-AU 9 17615061 17615061 single base substitution C T intron_variant MELA-AU 9 17615915 17615915 single base substitution C T intron_variant MELA-AU 9 17616242 17616242 single base substitution G A intron_variant MELA-AU 9 17616316 17616316 single base substitution G A intron_variant MELA-AU 9 17616336 17616336 single base substitution C T intron_variant MELA-AU 9 17616578 17616578 single base substitution G A intron_variant MELA-AU 9 17616712 17616712 single base substitution C T intron_variant MELA-AU 9 17617037 17617037 single base substitution C T intron_variant MELA-AU 9 17617088 17617088 single base substitution G A intron_variant MELA-AU 9 17617340 17617340 single base substitution C T intron_variant MELA-AU 9 17617452 17617452 single base substitution G A intron_variant MELA-AU 9 17617680 17617680 single base substitution C T intron_variant MELA-AU 9 17618070 17618070 single base substitution G A intron_variant MELA-AU 9 17618094 17618094 single base substitution C T intron_variant MELA-AU 9 17618392 17618392 single base substitution G A intron_variant MELA-AU 9 17618403 17618403 single base substitution G A intron_variant MELA-AU 9 17618465 17618465 single base substitution C T intron_variant MELA-AU 9 17618513 17618513 single base substitution T G intron_variant MELA-AU 9 17618723 17618723 single base substitution C T intron_variant MELA-AU 9 17618820 17618820 single base substitution A G intron_variant MELA-AU 9 17619083 17619083 single base substitution G A intron_variant MELA-AU 9 17619208 17619208 single base substitution G A intron_variant MELA-AU 9 17619295 17619295 single base substitution C T intron_variant MELA-AU 9 17619323 17619323 single base substitution C T intron_variant MELA-AU 9 17619384 17619384 single base substitution G A intron_variant MELA-AU 9 17619663 17619663 single base substitution G A intron_variant MELA-AU 9 17619756 17619756 single base substitution C T intron_variant MELA-AU 9 17619977 17619977 single base substitution G A intron_variant MELA-AU 9 17619985 17619985 single base substitution C T intron_variant MELA-AU 9 17620218 17620218 single base substitution A G intron_variant MELA-AU 9 17620688 17620688 single base substitution C T intron_variant MELA-AU 9 17621187 17621187 single base substitution G T intron_variant MELA-AU 9 17621299 17621299 single base substitution C T intron_variant MELA-AU 9 17621804 17621804 single base substitution A G intron_variant MELA-AU 9 17621835 17621835 single base substitution G A intron_variant MELA-AU 9 17621957 17621957 single base substitution C T intron_variant MELA-AU 9 17622063 17622063 single base substitution G A intron_variant MELA-AU 9 17622332 17622332 single base substitution G A intron_variant MELA-AU 9 17622735 17622735 single base substitution C T intron_variant MELA-AU 9 17622915 17622915 single base substitution G A intron_variant MELA-AU 9 17622969 17622969 single base substitution C T intron_variant MELA-AU 9 17623202 17623202 single base substitution G A intron_variant MELA-AU 9 17623246 17623246 single base substitution G A intron_variant MELA-AU 9 17623450 17623450 single base substitution G A intron_variant MELA-AU 9 17623523 17623523 single base substitution A C intron_variant MELA-AU 9 17623997 17623997 single base substitution C T intron_variant MELA-AU 9 17624181 17624181 single base substitution G A intron_variant MELA-AU 9 17624216 17624216 single base substitution C T intron_variant MELA-AU 9 17624250 17624250 single base substitution C T intron_variant MELA-AU 9 17624650 17624650 single base substitution C T intron_variant MELA-AU 9 17624731 17624731 single base substitution C T intron_variant MELA-AU 9 17624826 17624826 single base substitution C T intron_variant MELA-AU 9 17624925 17624925 single base substitution G A intron_variant MELA-AU 9 17625083 17625083 single base substitution G A intron_variant MELA-AU 9 17625155 17625155 single base substitution C T intron_variant MELA-AU 9 17625268 17625268 single base substitution G A intron_variant MELA-AU 9 17625312 17625312 single base substitution G A intron_variant MELA-AU 9 17626049 17626049 single base substitution G A intron_variant MELA-AU 9 17626187 17626187 single base substitution G A intron_variant MELA-AU 9 17626379 17626379 single base substitution C T intron_variant MELA-AU 9 17626629 17626629 single base substitution A T intron_variant MELA-AU 9 17626797 17626797 single base substitution G A intron_variant MELA-AU 9 17627166 17627166 single base substitution G A intron_variant MELA-AU 9 17627230 17627230 single base substitution C T intron_variant MELA-AU 9 17627330 17627330 single base substitution C T intron_variant MELA-AU 9 17627696 17627696 single base substitution C T intron_variant MELA-AU 9 17627749 17627749 single base substitution G A intron_variant MELA-AU 9 17627751 17627751 single base substitution A G intron_variant MELA-AU 9 17627786 17627786 single base substitution G A intron_variant MELA-AU 9 17627934 17627934 single base substitution C T intron_variant MELA-AU 9 17628507 17628507 single base substitution G A intron_variant MELA-AU 9 17628691 17628691 single base substitution C T intron_variant MELA-AU 9 17628730 17628730 single base substitution G A intron_variant MELA-AU 9 17628862 17628862 single base substitution G A intron_variant MELA-AU 9 17629043 17629043 single base substitution T A intron_variant MELA-AU 9 17629162 17629162 single base substitution C T intron_variant MELA-AU 9 17629296 17629296 single base substitution G A intron_variant MELA-AU 9 17629383 17629383 single base substitution T G intron_variant MELA-AU 9 17629669 17629669 single base substitution C T intron_variant MELA-AU 9 17629705 17629705 single base substitution C T intron_variant MELA-AU 9 17629730 17629730 single base substitution C T intron_variant MELA-AU 9 17629793 17629793 single base substitution C T intron_variant MELA-AU 9 17629944 17629944 single base substitution G A intron_variant MELA-AU 9 17630303 17630303 single base substitution A G intron_variant MELA-AU 9 17630335 17630335 single base substitution C T intron_variant MELA-AU 9 17630472 17630472 single base substitution C T downstream_gene_variant MELA-AU 9 17630472 17630472 single base substitution C T intron_variant MELA-AU 9 17630507 17630507 single base substitution C T downstream_gene_variant MELA-AU 9 17630507 17630507 single base substitution C T intron_variant MELA-AU 9 17630660 17630660 single base substitution C T downstream_gene_variant MELA-AU 9 17630660 17630660 single base substitution C T intron_variant MELA-AU 9 17630883 17630883 single base substitution C T downstream_gene_variant MELA-AU 9 17630883 17630883 single base substitution C T intron_variant MELA-AU 9 17631257 17631257 single base substitution C T downstream_gene_variant MELA-AU 9 17631257 17631257 single base substitution C T intron_variant MELA-AU 9 17631258 17631258 single base substitution C T downstream_gene_variant MELA-AU 9 17631258 17631258 single base substitution C T intron_variant MELA-AU 9 17631503 17631503 single base substitution G A downstream_gene_variant MELA-AU 9 17631503 17631503 single base substitution G A intron_variant MELA-AU 9 17631553 17631553 single base substitution A T downstream_gene_variant MELA-AU 9 17631553 17631553 single base substitution A T intron_variant MELA-AU 9 17631716 17631716 single base substitution C T downstream_gene_variant MELA-AU 9 17631716 17631716 single base substitution C T intron_variant MELA-AU 9 17632035 17632035 single base substitution A G downstream_gene_variant MELA-AU 9 17632035 17632035 single base substitution A G intron_variant MELA-AU 9 17632074 17632074 single base substitution T A downstream_gene_variant MELA-AU 9 17632074 17632074 single base substitution T A intron_variant MELA-AU 9 17632486 17632486 single base substitution G A downstream_gene_variant MELA-AU 9 17632486 17632486 single base substitution G A intron_variant MELA-AU 9 17632963 17632963 single base substitution G A downstream_gene_variant MELA-AU 9 17632963 17632963 single base substitution G A intron_variant MELA-AU 9 17633021 17633021 single base substitution G A downstream_gene_variant MELA-AU 9 17633021 17633021 single base substitution G A intron_variant MELA-AU 9 17633107 17633107 single base substitution G A downstream_gene_variant MELA-AU 9 17633107 17633107 single base substitution G A intron_variant MELA-AU 9 17633502 17633502 single base substitution A T downstream_gene_variant MELA-AU 9 17633502 17633502 single base substitution A T intron_variant MELA-AU 9 17633772 17633772 single base substitution C T downstream_gene_variant MELA-AU 9 17633772 17633772 single base substitution C T intron_variant MELA-AU 9 17633866 17633867 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 9 17633866 17633867 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 17633984 17633984 single base substitution C T downstream_gene_variant MELA-AU 9 17633984 17633984 single base substitution C T intron_variant MELA-AU 9 17634050 17634050 single base substitution G A downstream_gene_variant MELA-AU 9 17634050 17634050 single base substitution G A intron_variant MELA-AU 9 17634633 17634633 single base substitution C T downstream_gene_variant MELA-AU 9 17634633 17634633 single base substitution C T intron_variant MELA-AU 9 17634807 17634807 single base substitution G A downstream_gene_variant MELA-AU 9 17634807 17634807 single base substitution G A intron_variant MELA-AU 9 17634928 17634928 single base substitution C T downstream_gene_variant MELA-AU 9 17634928 17634928 single base substitution C T intron_variant MELA-AU 9 17634941 17634941 single base substitution T G downstream_gene_variant MELA-AU 9 17634941 17634941 single base substitution T G intron_variant MELA-AU 9 17635259 17635259 single base substitution G A downstream_gene_variant MELA-AU 9 17635259 17635259 single base substitution G A intron_variant MELA-AU 9 17635269 17635269 single base substitution G A downstream_gene_variant MELA-AU 9 17635269 17635269 single base substitution G A intron_variant MELA-AU 9 17635306 17635306 single base substitution G A downstream_gene_variant MELA-AU 9 17635306 17635306 single base substitution G A intron_variant MELA-AU 9 17635453 17635453 single base substitution G A intron_variant MELA-AU 9 17635514 17635514 single base substitution C T intron_variant MELA-AU 9 17635517 17635517 single base substitution G A intron_variant MELA-AU 9 17635711 17635711 single base substitution T C intron_variant MELA-AU 9 17635763 17635763 single base substitution T C intron_variant MELA-AU 9 17635811 17635811 single base substitution G A intron_variant MELA-AU 9 17635913 17635913 single base substitution C T intron_variant MELA-AU 9 17636138 17636138 single base substitution G A intron_variant MELA-AU 9 17636516 17636516 single base substitution C T intron_variant MELA-AU 9 17637273 17637273 single base substitution G A intron_variant MELA-AU 9 17637387 17637387 single base substitution T A intron_variant MELA-AU 9 17637471 17637471 single base substitution G T intron_variant MELA-AU 9 17637613 17637613 single base substitution C T intron_variant MELA-AU 9 17637875 17637875 single base substitution C T intron_variant MELA-AU 9 17638088 17638088 single base substitution G A intron_variant MELA-AU 9 17638255 17638255 single base substitution C T intron_variant MELA-AU 9 17638362 17638362 single base substitution G A intron_variant MELA-AU 9 17638515 17638515 single base substitution G A intron_variant MELA-AU 9 17638653 17638653 single base substitution G A intron_variant MELA-AU 9 17638769 17638769 single base substitution C T intron_variant MELA-AU 9 17638787 17638787 single base substitution C T intron_variant MELA-AU 9 17638869 17638869 single base substitution C T intron_variant MELA-AU 9 17639166 17639166 deletion of <=200bp A - intron_variant MELA-AU 9 17639184 17639184 single base substitution G A intron_variant MELA-AU 9 17639257 17639257 single base substitution G A intron_variant MELA-AU 9 17639454 17639454 single base substitution T A intron_variant MELA-AU 9 17639575 17639575 single base substitution G A intron_variant MELA-AU 9 17639836 17639836 single base substitution G A intron_variant MELA-AU 9 17640089 17640089 single base substitution A G intron_variant MELA-AU 9 17640310 17640310 single base substitution C T intron_variant MELA-AU 9 17640392 17640392 single base substitution C T intron_variant MELA-AU 9 17640407 17640407 single base substitution C T intron_variant MELA-AU 9 17640479 17640479 single base substitution G A intron_variant MELA-AU 9 17640855 17640855 single base substitution C T intron_variant MELA-AU 9 17640987 17640987 single base substitution A G intron_variant MELA-AU 9 17641235 17641235 single base substitution C T intron_variant MELA-AU 9 17641393 17641393 single base substitution G A intron_variant MELA-AU 9 17641470 17641470 single base substitution G A intron_variant MELA-AU 9 17641706 17641706 single base substitution C T intron_variant MELA-AU 9 17641743 17641743 single base substitution C T intron_variant MELA-AU 9 17641749 17641749 single base substitution C T intron_variant MELA-AU 9 17641764 17641764 single base substitution G A intron_variant MELA-AU 9 17641962 17641962 single base substitution G A intron_variant MELA-AU 9 17642058 17642058 single base substitution G A intron_variant MELA-AU 9 17642150 17642150 single base substitution G A intron_variant MELA-AU 9 17642237 17642237 single base substitution C T intron_variant MELA-AU 9 17642243 17642243 single base substitution G A intron_variant MELA-AU 9 17642554 17642554 single base substitution C T intron_variant MELA-AU 9 17642647 17642647 single base substitution G A intron_variant MELA-AU 9 17642686 17642686 single base substitution C T intron_variant MELA-AU 9 17642829 17642829 single base substitution G A intron_variant MELA-AU 9 17642945 17642945 single base substitution A T intron_variant MELA-AU 9 17643007 17643007 single base substitution C T intron_variant MELA-AU 9 17643217 17643217 single base substitution G A intron_variant MELA-AU 9 17643267 17643267 single base substitution C T intron_variant MELA-AU 9 17643305 17643305 single base substitution C T intron_variant MELA-AU 9 17643354 17643354 single base substitution T C intron_variant MELA-AU 9 17643389 17643389 single base substitution T C intron_variant MELA-AU 9 17643461 17643461 single base substitution G A intron_variant MELA-AU 9 17643773 17643773 single base substitution G A intron_variant MELA-AU 9 17643899 17643899 single base substitution G A intron_variant MELA-AU 9 17643988 17643988 deletion of <=200bp A - intron_variant MELA-AU 9 17644022 17644022 single base substitution C T intron_variant MELA-AU 9 17644044 17644044 single base substitution C T intron_variant MELA-AU 9 17644078 17644078 single base substitution G A intron_variant MELA-AU 9 17644092 17644092 single base substitution C T intron_variant MELA-AU 9 17644189 17644189 single base substitution T G intron_variant MELA-AU 9 17644873 17644873 single base substitution C T intron_variant MELA-AU 9 17645205 17645205 single base substitution C T intron_variant MELA-AU 9 17645213 17645213 single base substitution C T intron_variant MELA-AU 9 17645517 17645517 single base substitution C T intron_variant MELA-AU 9 17645706 17645706 single base substitution C A intron_variant MELA-AU 9 17645748 17645748 single base substitution C T intron_variant MELA-AU 9 17646038 17646038 single base substitution G A intron_variant MELA-AU 9 17646049 17646049 single base substitution C T intron_variant MELA-AU 9 17646299 17646299 single base substitution C T intron_variant MELA-AU 9 17646359 17646359 single base substitution G A intron_variant MELA-AU 9 17646361 17646361 single base substitution A G intron_variant MELA-AU 9 17646493 17646493 single base substitution C T intron_variant MELA-AU 9 17646494 17646494 single base substitution C T intron_variant MELA-AU 9 17646550 17646550 single base substitution G A intron_variant MELA-AU 9 17646570 17646570 single base substitution T A intron_variant MELA-AU 9 17646751 17646751 single base substitution C T intron_variant MELA-AU 9 17646937 17646937 single base substitution G A intron_variant MELA-AU 9 17647022 17647022 single base substitution C T intron_variant MELA-AU 9 17647204 17647204 single base substitution G A intron_variant MELA-AU 9 17647378 17647378 single base substitution G A intron_variant MELA-AU 9 17647431 17647431 single base substitution C G intron_variant MELA-AU 9 17647444 17647444 single base substitution T A intron_variant MELA-AU 9 17647449 17647449 single base substitution G A intron_variant MELA-AU 9 17647483 17647483 single base substitution A C intron_variant MELA-AU 9 17647778 17647778 single base substitution C T intron_variant MELA-AU 9 17648342 17648342 single base substitution C T intron_variant MELA-AU 9 17648858 17648858 single base substitution A G intron_variant MELA-AU 9 17648906 17648906 single base substitution C T intron_variant MELA-AU 9 17648949 17648949 single base substitution C T intron_variant MELA-AU 9 17649147 17649147 single base substitution G A intron_variant MELA-AU 9 17649198 17649198 single base substitution G A intron_variant MELA-AU 9 17649271 17649271 single base substitution G A intron_variant MELA-AU 9 17649327 17649327 single base substitution A T intron_variant MELA-AU 9 17649493 17649493 single base substitution C T intron_variant MELA-AU 9 17649714 17649714 single base substitution G A intron_variant MELA-AU 9 17649908 17649908 single base substitution G A intron_variant MELA-AU 9 17649985 17649985 single base substitution G A intron_variant MELA-AU 9 17650253 17650253 single base substitution C T intron_variant MELA-AU 9 17650325 17650325 single base substitution G A intron_variant MELA-AU 9 17650393 17650393 single base substitution G A intron_variant MELA-AU 9 17650467 17650467 single base substitution T G intron_variant MELA-AU 9 17650524 17650524 single base substitution C T intron_variant MELA-AU 9 17650766 17650766 single base substitution T A intron_variant MELA-AU 9 17650921 17650921 single base substitution C T intron_variant MELA-AU 9 17650926 17650926 single base substitution G A intron_variant MELA-AU 9 17651127 17651127 single base substitution G A intron_variant MELA-AU 9 17651203 17651203 single base substitution C T intron_variant MELA-AU 9 17651271 17651271 single base substitution C T intron_variant MELA-AU 9 17652271 17652271 single base substitution G A intron_variant MELA-AU 9 17652498 17652498 single base substitution C T intron_variant MELA-AU 9 17652693 17652693 single base substitution G A intron_variant MELA-AU 9 17652943 17652943 single base substitution C T intron_variant MELA-AU 9 17652989 17652989 single base substitution G A intron_variant MELA-AU 9 17653027 17653027 single base substitution C T intron_variant MELA-AU 9 17653085 17653085 single base substitution C T intron_variant MELA-AU 9 17653096 17653103 deletion of <=200bp AATCTGAA - intron_variant MELA-AU 9 17653177 17653177 single base substitution C T intron_variant MELA-AU 9 17653292 17653292 single base substitution C T intron_variant MELA-AU 9 17653355 17653355 single base substitution C T intron_variant MELA-AU 9 17653530 17653530 single base substitution C T intron_variant MELA-AU 9 17653607 17653607 single base substitution C T intron_variant MELA-AU 9 17653633 17653633 single base substitution G A intron_variant MELA-AU 9 17653816 17653816 single base substitution G A intron_variant MELA-AU 9 17654108 17654108 single base substitution G A intron_variant MELA-AU 9 17654146 17654146 single base substitution C T intron_variant MELA-AU 9 17654147 17654147 single base substitution C T intron_variant MELA-AU 9 17654347 17654347 single base substitution C T intron_variant MELA-AU 9 17654499 17654499 single base substitution A T intron_variant MELA-AU 9 17654922 17654922 single base substitution C T intron_variant MELA-AU 9 17655064 17655064 single base substitution G A intron_variant MELA-AU 9 17655264 17655264 single base substitution T A intron_variant MELA-AU 9 17655284 17655284 single base substitution G A intron_variant MELA-AU 9 17655534 17655534 single base substitution C T intron_variant MELA-AU 9 17655654 17655654 single base substitution G A intron_variant MELA-AU 9 17655787 17655787 single base substitution C T intron_variant MELA-AU 9 17655841 17655841 single base substitution G A intron_variant MELA-AU 9 17655994 17655994 single base substitution C A intron_variant MELA-AU 9 17656034 17656036 multiple base substitution (>=2bp and <=200bp) GGA AAT intron_variant MELA-AU 9 17656108 17656108 single base substitution C T intron_variant MELA-AU 9 17656109 17656109 single base substitution G A intron_variant MELA-AU 9 17656201 17656202 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 17656675 17656675 single base substitution C T intron_variant MELA-AU 9 17656903 17656903 single base substitution G A intron_variant MELA-AU 9 17656934 17656934 single base substitution C T intron_variant MELA-AU 9 17657153 17657153 single base substitution T A intron_variant MELA-AU 9 17657467 17657467 single base substitution G A intron_variant MELA-AU 9 17657594 17657594 single base substitution G A intron_variant MELA-AU 9 17657624 17657624 single base substitution C T intron_variant MELA-AU 9 17657714 17657714 single base substitution G A intron_variant MELA-AU 9 17657786 17657786 single base substitution A T intron_variant MELA-AU 9 17658021 17658021 single base substitution G A intron_variant MELA-AU 9 17658631 17658631 single base substitution C T intron_variant MELA-AU 9 17658687 17658687 single base substitution G A intron_variant MELA-AU 9 17658726 17658726 single base substitution A G intron_variant MELA-AU 9 17658760 17658760 single base substitution G A intron_variant MELA-AU 9 17658927 17658927 single base substitution C T intron_variant MELA-AU 9 17658968 17658968 single base substitution G A intron_variant MELA-AU 9 17659035 17659035 single base substitution G A intron_variant MELA-AU 9 17659051 17659051 single base substitution G A intron_variant MELA-AU 9 17659113 17659113 single base substitution G A intron_variant MELA-AU 9 17659156 17659156 single base substitution G A intron_variant MELA-AU 9 17659570 17659570 single base substitution G A intron_variant MELA-AU 9 17659714 17659714 single base substitution C T intron_variant MELA-AU 9 17660295 17660295 single base substitution C T intron_variant MELA-AU 9 17660405 17660405 single base substitution T C intron_variant MELA-AU 9 17660421 17660421 single base substitution C T intron_variant MELA-AU 9 17660535 17660535 single base substitution C T intron_variant MELA-AU 9 17660617 17660617 single base substitution C T intron_variant MELA-AU 9 17660774 17660774 single base substitution C T intron_variant MELA-AU 9 17660946 17660946 single base substitution G A intron_variant MELA-AU 9 17661432 17661432 single base substitution G C intron_variant MELA-AU 9 17661457 17661457 single base substitution G C intron_variant MELA-AU 9 17661572 17661572 single base substitution C T intron_variant MELA-AU 9 17661620 17661620 single base substitution G C intron_variant MELA-AU 9 17661711 17661711 single base substitution G A intron_variant MELA-AU 9 17661872 17661872 single base substitution G A intron_variant MELA-AU 9 17661916 17661916 single base substitution G C intron_variant MELA-AU 9 17661933 17661933 single base substitution G A intron_variant MELA-AU 9 17662053 17662053 single base substitution G C intron_variant MELA-AU 9 17662209 17662209 single base substitution G A intron_variant MELA-AU 9 17662424 17662424 single base substitution G C intron_variant MELA-AU 9 17662698 17662698 single base substitution A G intron_variant MELA-AU 9 17663298 17663298 single base substitution G A intron_variant MELA-AU 9 17663835 17663835 single base substitution G A intron_variant MELA-AU 9 17663999 17663999 single base substitution G A intron_variant MELA-AU 9 17664465 17664465 single base substitution T C intron_variant MELA-AU 9 17664501 17664501 single base substitution G A intron_variant MELA-AU 9 17664746 17664746 single base substitution G A intron_variant MELA-AU 9 17664892 17664892 single base substitution G A intron_variant MELA-AU 9 17665140 17665140 single base substitution C T intron_variant MELA-AU 9 17665197 17665197 single base substitution C T intron_variant MELA-AU 9 17665404 17665404 single base substitution C T intron_variant MELA-AU 9 17665518 17665518 single base substitution C T intron_variant MELA-AU 9 17666200 17666200 single base substitution C T intron_variant MELA-AU 9 17666275 17666275 single base substitution C T intron_variant MELA-AU 9 17666382 17666382 single base substitution C T intron_variant MELA-AU 9 17666425 17666425 single base substitution C T intron_variant MELA-AU 9 17666672 17666672 single base substitution C T intron_variant MELA-AU 9 17666712 17666712 single base substitution G A intron_variant MELA-AU 9 17667388 17667388 single base substitution C T intron_variant MELA-AU 9 17667419 17667419 single base substitution G A intron_variant MELA-AU 9 17667449 17667449 single base substitution C T intron_variant MELA-AU 9 17667540 17667540 single base substitution G A intron_variant MELA-AU 9 17667615 17667615 single base substitution G A intron_variant MELA-AU 9 17667894 17667894 single base substitution T C intron_variant MELA-AU 9 17668025 17668025 single base substitution G A intron_variant MELA-AU 9 17668081 17668081 single base substitution G A intron_variant MELA-AU 9 17668218 17668218 single base substitution G A intron_variant MELA-AU 9 17668379 17668379 single base substitution C T intron_variant MELA-AU 9 17668535 17668535 single base substitution T C intron_variant MELA-AU 9 17668599 17668599 single base substitution C T intron_variant MELA-AU 9 17668771 17668771 single base substitution C T intron_variant MELA-AU 9 17668842 17668842 single base substitution G A intron_variant MELA-AU 9 17668961 17668961 single base substitution C T intron_variant MELA-AU 9 17668981 17668981 single base substitution C T intron_variant MELA-AU 9 17669041 17669041 single base substitution T C intron_variant MELA-AU 9 17669310 17669310 single base substitution C T intron_variant MELA-AU 9 17669432 17669432 single base substitution C T intron_variant MELA-AU 9 17669438 17669438 single base substitution C T intron_variant MELA-AU 9 17669536 17669536 single base substitution G A intron_variant MELA-AU 9 17669687 17669687 single base substitution T C intron_variant MELA-AU 9 17669838 17669838 single base substitution G A intron_variant MELA-AU 9 17670239 17670239 single base substitution C T intron_variant MELA-AU 9 17670344 17670344 single base substitution G A intron_variant MELA-AU 9 17670393 17670393 single base substitution T A intron_variant MELA-AU 9 17670596 17670597 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 17670797 17670797 single base substitution A C intron_variant MELA-AU 9 17671172 17671172 single base substitution G A intron_variant MELA-AU 9 17671542 17671542 single base substitution C T intron_variant MELA-AU 9 17671852 17671852 single base substitution C T intron_variant MELA-AU 9 17672201 17672201 single base substitution G A intron_variant MELA-AU 9 17672246 17672246 single base substitution G A intron_variant MELA-AU 9 17672605 17672605 single base substitution G A intron_variant MELA-AU 9 17672691 17672691 single base substitution G A intron_variant MELA-AU 9 17673025 17673025 single base substitution T A intron_variant MELA-AU 9 17673066 17673066 single base substitution C T intron_variant MELA-AU 9 17673452 17673452 single base substitution G A intron_variant MELA-AU 9 17673555 17673555 single base substitution C T intron_variant MELA-AU 9 17673665 17673665 single base substitution C T intron_variant MELA-AU 9 17673872 17673872 single base substitution C T intron_variant MELA-AU 9 17673912 17673912 single base substitution G A intron_variant MELA-AU 9 17673975 17673975 single base substitution C T intron_variant MELA-AU 9 17673983 17673983 single base substitution G A intron_variant MELA-AU 9 17674213 17674213 single base substitution A T intron_variant MELA-AU 9 17674228 17674228 single base substitution A C intron_variant MELA-AU 9 17674289 17674289 single base substitution G A intron_variant MELA-AU 9 17674489 17674489 single base substitution C T intron_variant MELA-AU 9 17674519 17674519 single base substitution C T intron_variant MELA-AU 9 17674637 17674637 single base substitution C T intron_variant MELA-AU 9 17674775 17674775 single base substitution C T intron_variant MELA-AU 9 17674803 17674803 single base substitution C T intron_variant MELA-AU 9 17674869 17674869 single base substitution C A intron_variant MELA-AU 9 17674891 17674891 single base substitution C T intron_variant MELA-AU 9 17674943 17674943 single base substitution G A intron_variant MELA-AU 9 17675151 17675151 single base substitution C T intron_variant MELA-AU 9 17675320 17675320 single base substitution A T intron_variant MELA-AU 9 17675533 17675533 single base substitution C T intron_variant MELA-AU 9 17675812 17675812 single base substitution G A intron_variant MELA-AU 9 17675866 17675866 single base substitution C T intron_variant MELA-AU 9 17675876 17675876 single base substitution G A intron_variant MELA-AU 9 17676383 17676383 single base substitution C T intron_variant MELA-AU 9 17676499 17676499 single base substitution G A intron_variant MELA-AU 9 17676732 17676732 single base substitution C T intron_variant MELA-AU 9 17676828 17676828 single base substitution C T intron_variant MELA-AU 9 17676880 17676880 single base substitution C T intron_variant MELA-AU 9 17676888 17676888 single base substitution C T intron_variant MELA-AU 9 17676952 17676952 single base substitution C T intron_variant MELA-AU 9 17677087 17677087 single base substitution G A intron_variant MELA-AU 9 17677181 17677181 single base substitution C T intron_variant MELA-AU 9 17677553 17677553 single base substitution T G intron_variant MELA-AU 9 17677782 17677782 single base substitution C T intron_variant MELA-AU 9 17677787 17677787 single base substitution C T intron_variant MELA-AU 9 17677937 17677937 single base substitution C T intron_variant MELA-AU 9 17678373 17678373 single base substitution C T intron_variant MELA-AU 9 17678708 17678708 single base substitution C T intron_variant MELA-AU 9 17679291 17679291 single base substitution C T intron_variant MELA-AU 9 17679402 17679402 single base substitution G A intron_variant MELA-AU 9 17680197 17680197 single base substitution G A intron_variant MELA-AU 9 17680206 17680206 single base substitution C T intron_variant MELA-AU 9 17680246 17680246 single base substitution C T intron_variant MELA-AU 9 17680260 17680260 single base substitution G A intron_variant MELA-AU 9 17680301 17680301 single base substitution C T intron_variant MELA-AU 9 17680318 17680318 single base substitution C G intron_variant MELA-AU 9 17680340 17680340 single base substitution C T intron_variant MELA-AU 9 17680394 17680394 single base substitution G A intron_variant MELA-AU 9 17680957 17680957 single base substitution C T intron_variant MELA-AU 9 17681153 17681153 single base substitution G A intron_variant MELA-AU 9 17681162 17681163 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 17681221 17681221 single base substitution G A intron_variant MELA-AU 9 17681304 17681304 single base substitution C T intron_variant MELA-AU 9 17681591 17681591 single base substitution G A intron_variant MELA-AU 9 17681604 17681604 single base substitution G A intron_variant MELA-AU 9 17681705 17681705 single base substitution G A intron_variant MELA-AU 9 17681773 17681773 single base substitution G A intron_variant MELA-AU 9 17681984 17681984 single base substitution G A intron_variant MELA-AU 9 17681991 17681991 single base substitution G T intron_variant MELA-AU 9 17682221 17682221 single base substitution G A intron_variant MELA-AU 9 17682527 17682527 single base substitution G A intron_variant MELA-AU 9 17682574 17682574 single base substitution G A intron_variant MELA-AU 9 17682665 17682665 single base substitution G A intron_variant MELA-AU 9 17682697 17682697 single base substitution G A intron_variant MELA-AU 9 17682981 17682981 single base substitution C T intron_variant MELA-AU 9 17682999 17682999 single base substitution G T intron_variant MELA-AU 9 17683355 17683355 single base substitution C T intron_variant MELA-AU 9 17683474 17683474 single base substitution G A intron_variant MELA-AU 9 17683481 17683481 single base substitution G A intron_variant MELA-AU 9 17683561 17683561 single base substitution G A intron_variant MELA-AU 9 17683564 17683564 single base substitution G A intron_variant MELA-AU 9 17683650 17683650 single base substitution C T intron_variant MELA-AU 9 17683687 17683687 single base substitution G A intron_variant MELA-AU 9 17683782 17683782 single base substitution G A intron_variant MELA-AU 9 17683847 17683847 single base substitution G A intron_variant MELA-AU 9 17683873 17683873 single base substitution G A intron_variant MELA-AU 9 17683882 17683882 single base substitution G A intron_variant MELA-AU 9 17683932 17683932 single base substitution C T intron_variant MELA-AU 9 17684160 17684160 single base substitution G A intron_variant MELA-AU 9 17684341 17684341 single base substitution G A intron_variant MELA-AU 9 17684466 17684466 single base substitution C T intron_variant MELA-AU 9 17684474 17684474 single base substitution C T intron_variant MELA-AU 9 17684577 17684577 single base substitution C T intron_variant MELA-AU 9 17684695 17684695 single base substitution C T intron_variant MELA-AU 9 17684797 17684797 single base substitution A G intron_variant MELA-AU 9 17684822 17684822 single base substitution C T intron_variant MELA-AU 9 17684909 17684909 single base substitution G A intron_variant MELA-AU 9 17685200 17685200 single base substitution G A intron_variant MELA-AU 9 17686761 17686761 single base substitution G A intron_variant MELA-AU 9 17686762 17686762 single base substitution G A intron_variant MELA-AU 9 17686917 17686917 single base substitution C T intron_variant MELA-AU 9 17687007 17687007 single base substitution A G intron_variant MELA-AU 9 17687263 17687263 single base substitution C T intron_variant MELA-AU 9 17688074 17688074 single base substitution C T intron_variant MELA-AU 9 17688191 17688191 single base substitution C T intron_variant MELA-AU 9 17688457 17688457 single base substitution G A intron_variant MELA-AU 9 17688469 17688469 single base substitution C A intron_variant MELA-AU 9 17688535 17688535 single base substitution C T intron_variant MELA-AU 9 17688547 17688547 single base substitution G A intron_variant MELA-AU 9 17688604 17688604 single base substitution G A intron_variant MELA-AU 9 17688652 17688652 single base substitution G A intron_variant MELA-AU 9 17688695 17688695 single base substitution G C intron_variant MELA-AU 9 17688752 17688752 single base substitution G A intron_variant MELA-AU 9 17688785 17688785 single base substitution G A intron_variant MELA-AU 9 17688813 17688813 single base substitution C T intron_variant MELA-AU 9 17688815 17688815 single base substitution G A intron_variant MELA-AU 9 17688942 17688942 single base substitution A G intron_variant MELA-AU 9 17688950 17688950 single base substitution C T intron_variant MELA-AU 9 17689304 17689304 single base substitution G A intron_variant MELA-AU 9 17689515 17689515 single base substitution C T intron_variant MELA-AU 9 17689776 17689776 single base substitution T A intron_variant MELA-AU 9 17690196 17690196 single base substitution C T intron_variant MELA-AU 9 17690386 17690386 single base substitution C T intron_variant MELA-AU 9 17690510 17690510 single base substitution C T intron_variant MELA-AU 9 17690693 17690693 single base substitution C T intron_variant MELA-AU 9 17690776 17690776 single base substitution G A intron_variant MELA-AU 9 17690798 17690798 single base substitution G A intron_variant MELA-AU 9 17690920 17690920 single base substitution G A intron_variant MELA-AU 9 17691114 17691114 single base substitution C T intron_variant MELA-AU 9 17691229 17691229 single base substitution G A intron_variant MELA-AU 9 17691352 17691352 single base substitution G A intron_variant MELA-AU 9 17691525 17691525 single base substitution C A intron_variant MELA-AU 9 17691539 17691539 single base substitution C T intron_variant MELA-AU 9 17691600 17691600 single base substitution G A intron_variant MELA-AU 9 17691659 17691659 single base substitution A T intron_variant MELA-AU 9 17691762 17691762 single base substitution C T intron_variant MELA-AU 9 17691947 17691947 single base substitution G A intron_variant MELA-AU 9 17692130 17692130 single base substitution G A intron_variant MELA-AU 9 17692194 17692194 single base substitution G A intron_variant MELA-AU 9 17692420 17692420 single base substitution G A intron_variant MELA-AU 9 17692597 17692597 single base substitution T G intron_variant MELA-AU 9 17692620 17692620 single base substitution G A intron_variant MELA-AU 9 17692641 17692641 single base substitution C A intron_variant MELA-AU 9 17692709 17692709 single base substitution C T intron_variant MELA-AU 9 17692789 17692789 single base substitution G T intron_variant MELA-AU 9 17692879 17692879 single base substitution G T intron_variant MELA-AU 9 17692888 17692888 single base substitution G T intron_variant MELA-AU 9 17693052 17693052 single base substitution G A intron_variant MELA-AU 9 17693117 17693117 single base substitution C T intron_variant MELA-AU 9 17693147 17693147 single base substitution G A intron_variant MELA-AU 9 17693171 17693171 single base substitution G C intron_variant MELA-AU 9 17693201 17693201 single base substitution C T intron_variant MELA-AU 9 17693209 17693209 single base substitution G C intron_variant MELA-AU 9 17693230 17693230 single base substitution G C intron_variant MELA-AU 9 17693241 17693241 single base substitution C T intron_variant MELA-AU 9 17693256 17693256 single base substitution G C intron_variant MELA-AU 9 17693337 17693337 single base substitution G T intron_variant MELA-AU 9 17693347 17693347 single base substitution G A intron_variant MELA-AU 9 17693348 17693348 single base substitution G A intron_variant MELA-AU 9 17693448 17693448 single base substitution G A intron_variant MELA-AU 9 17693498 17693498 single base substitution G T intron_variant MELA-AU 9 17693579 17693579 single base substitution C T intron_variant MELA-AU 9 17693684 17693684 single base substitution C T intron_variant MELA-AU 9 17693687 17693687 single base substitution G C intron_variant MELA-AU 9 17693788 17693788 single base substitution G A intron_variant MELA-AU 9 17693811 17693811 single base substitution G T intron_variant MELA-AU 9 17694109 17694109 single base substitution G A intron_variant MELA-AU 9 17694114 17694114 single base substitution C T intron_variant MELA-AU 9 17694214 17694214 single base substitution C T intron_variant MELA-AU 9 17694315 17694315 single base substitution G A intron_variant MELA-AU 9 17694409 17694409 single base substitution G A intron_variant MELA-AU 9 17694470 17694470 single base substitution C T intron_variant MELA-AU 9 17694498 17694498 single base substitution T C intron_variant MELA-AU 9 17694513 17694513 single base substitution T C intron_variant MELA-AU 9 17694604 17694604 single base substitution G C intron_variant MELA-AU 9 17694681 17694681 single base substitution C T intron_variant MELA-AU 9 17694727 17694727 single base substitution C T intron_variant MELA-AU 9 17694788 17694788 single base substitution A T intron_variant MELA-AU 9 17694794 17694794 single base substitution T G intron_variant MELA-AU 9 17694892 17694892 single base substitution G A intron_variant MELA-AU 9 17694967 17694967 single base substitution T C intron_variant MELA-AU 9 17695008 17695008 single base substitution C T intron_variant MELA-AU 9 17695463 17695463 single base substitution C T intron_variant MELA-AU 9 17695770 17695770 single base substitution C T intron_variant MELA-AU 9 17696353 17696353 single base substitution G A intron_variant MELA-AU 9 17696551 17696551 single base substitution G C intron_variant MELA-AU 9 17696555 17696555 single base substitution G A intron_variant MELA-AU 9 17696579 17696579 single base substitution G A intron_variant MELA-AU 9 17696670 17696670 single base substitution G A intron_variant MELA-AU 9 17696795 17696795 single base substitution G A intron_variant MELA-AU 9 17696814 17696814 single base substitution C T intron_variant MELA-AU 9 17696881 17696881 single base substitution C T intron_variant MELA-AU 9 17697246 17697246 single base substitution G A intron_variant MELA-AU 9 17697285 17697285 single base substitution G A intron_variant MELA-AU 9 17697391 17697391 single base substitution T A intron_variant MELA-AU 9 17697477 17697477 single base substitution C T intron_variant MELA-AU 9 17697721 17697721 single base substitution C T intron_variant MELA-AU 9 17698070 17698070 single base substitution C T intron_variant MELA-AU 9 17698080 17698080 single base substitution C T intron_variant MELA-AU 9 17698097 17698097 single base substitution G A intron_variant MELA-AU 9 17698117 17698117 single base substitution G A intron_variant MELA-AU 9 17698247 17698247 single base substitution G C intron_variant MELA-AU 9 17698262 17698262 single base substitution C T intron_variant MELA-AU 9 17698518 17698518 single base substitution G A intron_variant MELA-AU 9 17698575 17698575 single base substitution C T intron_variant MELA-AU 9 17698707 17698708 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 9 17698784 17698784 single base substitution G A intron_variant MELA-AU 9 17698909 17698909 single base substitution C T intron_variant MELA-AU 9 17699067 17699067 single base substitution C T intron_variant MELA-AU 9 17699660 17699660 single base substitution G A intron_variant MELA-AU 9 17699759 17699759 single base substitution A G intron_variant MELA-AU 9 17699820 17699820 single base substitution G A intron_variant MELA-AU 9 17700063 17700063 single base substitution T A intron_variant MELA-AU 9 17700188 17700188 single base substitution C T intron_variant MELA-AU 9 17701296 17701296 single base substitution C T intron_variant MELA-AU 9 17701354 17701354 single base substitution C G intron_variant MELA-AU 9 17701392 17701392 single base substitution G A intron_variant MELA-AU 9 17701544 17701544 single base substitution G A intron_variant MELA-AU 9 17701752 17701752 single base substitution T C intron_variant MELA-AU 9 17701959 17701959 single base substitution G A intron_variant MELA-AU 9 17701998 17701998 single base substitution G A intron_variant MELA-AU 9 17702007 17702007 single base substitution G A intron_variant MELA-AU 9 17702047 17702047 single base substitution C T intron_variant MELA-AU 9 17702252 17702252 single base substitution C T intron_variant MELA-AU 9 17702471 17702471 single base substitution G A intron_variant MELA-AU 9 17702618 17702618 single base substitution A C intron_variant MELA-AU 9 17702818 17702818 single base substitution A T intron_variant MELA-AU 9 17702867 17702867 single base substitution C T intron_variant MELA-AU 9 17702928 17702928 single base substitution C T intron_variant MELA-AU 9 17703006 17703006 single base substitution C T intron_variant MELA-AU 9 17703051 17703051 single base substitution C T intron_variant MELA-AU 9 17703155 17703155 single base substitution G A intron_variant MELA-AU 9 17703161 17703161 single base substitution C T intron_variant MELA-AU 9 17703178 17703178 single base substitution G A intron_variant MELA-AU 9 17703234 17703234 single base substitution G A intron_variant MELA-AU 9 17703407 17703407 single base substitution C T intron_variant MELA-AU 9 17703423 17703423 single base substitution G A intron_variant MELA-AU 9 17703520 17703520 single base substitution C T intron_variant MELA-AU 9 17703768 17703768 single base substitution C T intron_variant MELA-AU 9 17703770 17703770 single base substitution C T intron_variant MELA-AU 9 17703892 17703892 single base substitution G A intron_variant MELA-AU 9 17703988 17703988 single base substitution G A intron_variant MELA-AU 9 17704021 17704021 single base substitution G A intron_variant MELA-AU 9 17704062 17704062 single base substitution C T intron_variant MELA-AU 9 17704234 17704234 single base substitution G A intron_variant MELA-AU 9 17704243 17704243 single base substitution G A intron_variant MELA-AU 9 17704689 17704689 single base substitution C T intron_variant MELA-AU 9 17704690 17704690 single base substitution C T intron_variant MELA-AU 9 17705254 17705254 single base substitution G A intron_variant MELA-AU 9 17705292 17705292 single base substitution G A intron_variant MELA-AU 9 17705420 17705420 single base substitution C T intron_variant MELA-AU 9 17705518 17705518 single base substitution C T intron_variant MELA-AU 9 17705807 17705807 single base substitution G A intron_variant MELA-AU 9 17705812 17705812 single base substitution G A intron_variant MELA-AU 9 17706064 17706064 single base substitution G A intron_variant MELA-AU 9 17706253 17706253 single base substitution C T intron_variant MELA-AU 9 17706263 17706263 single base substitution C T intron_variant MELA-AU 9 17706523 17706523 single base substitution T A intron_variant MELA-AU 9 17706768 17706768 single base substitution C T intron_variant MELA-AU 9 17706966 17706966 single base substitution G A intron_variant MELA-AU 9 17707102 17707102 single base substitution G A intron_variant MELA-AU 9 17707128 17707128 single base substitution T G intron_variant MELA-AU 9 17707130 17707130 single base substitution C T intron_variant MELA-AU 9 17707225 17707225 single base substitution T C intron_variant MELA-AU 9 17707269 17707269 single base substitution G A intron_variant MELA-AU 9 17707293 17707293 single base substitution C A intron_variant MELA-AU 9 17707438 17707438 single base substitution C T intron_variant MELA-AU 9 17707509 17707509 single base substitution T C intron_variant MELA-AU 9 17707615 17707615 single base substitution T A intron_variant MELA-AU 9 17707783 17707783 single base substitution C T intron_variant MELA-AU 9 17707999 17707999 single base substitution C T intron_variant MELA-AU 9 17708040 17708041 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 17708273 17708273 single base substitution C T intron_variant MELA-AU 9 17708378 17708378 single base substitution C T intron_variant MELA-AU 9 17708557 17708557 single base substitution G A intron_variant MELA-AU 9 17708773 17708773 single base substitution G A intron_variant MELA-AU 9 17708776 17708776 single base substitution A T intron_variant MELA-AU 9 17708793 17708793 single base substitution C T intron_variant MELA-AU 9 17708853 17708853 single base substitution C T intron_variant MELA-AU 9 17708910 17708910 single base substitution C T intron_variant MELA-AU 9 17708978 17708978 single base substitution T A intron_variant MELA-AU 9 17709044 17709044 single base substitution C T intron_variant MELA-AU 9 17709337 17709337 single base substitution C T intron_variant MELA-AU 9 17709339 17709339 single base substitution T C intron_variant MELA-AU 9 17709365 17709365 single base substitution G A intron_variant MELA-AU 9 17709551 17709551 single base substitution G A intron_variant MELA-AU 9 17709769 17709769 single base substitution T G intron_variant MELA-AU 9 17710088 17710088 single base substitution G A intron_variant MELA-AU 9 17710112 17710112 single base substitution C T intron_variant MELA-AU 9 17710123 17710123 single base substitution C T intron_variant MELA-AU 9 17710297 17710297 single base substitution G A intron_variant MELA-AU 9 17710373 17710373 single base substitution G A intron_variant MELA-AU 9 17710437 17710437 single base substitution C T intron_variant MELA-AU 9 17710823 17710823 single base substitution C T intron_variant MELA-AU 9 17710993 17710993 deletion of <=200bp C - intron_variant MELA-AU 9 17710993 17710993 single base substitution C T intron_variant MELA-AU 9 17711619 17711619 single base substitution C T intron_variant MELA-AU 9 17711647 17711647 single base substitution C T intron_variant MELA-AU 9 17711749 17711749 deletion of <=200bp T - intron_variant MELA-AU 9 17711800 17711800 single base substitution G A intron_variant MELA-AU 9 17712009 17712009 single base substitution G A intron_variant MELA-AU 9 17712050 17712050 single base substitution C T intron_variant MELA-AU 9 17712187 17712187 single base substitution A T intron_variant MELA-AU 9 17712214 17712214 single base substitution C T intron_variant MELA-AU 9 17712247 17712247 single base substitution C T intron_variant MELA-AU 9 17712284 17712284 single base substitution C T intron_variant MELA-AU 9 17712287 17712287 single base substitution G A intron_variant MELA-AU 9 17712431 17712431 single base substitution C T intron_variant MELA-AU 9 17712758 17712758 single base substitution C T intron_variant MELA-AU 9 17713058 17713058 single base substitution C T intron_variant MELA-AU 9 17713140 17713140 single base substitution C T intron_variant MELA-AU 9 17713220 17713221 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 17713235 17713235 single base substitution A T intron_variant MELA-AU 9 17713259 17713259 single base substitution C T intron_variant MELA-AU 9 17713463 17713463 single base substitution C T intron_variant MELA-AU 9 17713464 17713464 single base substitution C T intron_variant MELA-AU 9 17713860 17713860 single base substitution G A intron_variant MELA-AU 9 17714127 17714127 single base substitution G A intron_variant MELA-AU 9 17714136 17714136 single base substitution C T intron_variant MELA-AU 9 17714206 17714206 single base substitution C T intron_variant MELA-AU 9 17714496 17714496 single base substitution C T intron_variant MELA-AU 9 17715148 17715148 single base substitution C T intron_variant MELA-AU 9 17715200 17715200 single base substitution T G intron_variant MELA-AU 9 17715282 17715282 single base substitution C T intron_variant MELA-AU 9 17715426 17715426 single base substitution C T intron_variant MELA-AU 9 17715433 17715433 single base substitution G A intron_variant MELA-AU 9 17715464 17715464 single base substitution G A intron_variant MELA-AU 9 17715753 17715753 single base substitution C T intron_variant MELA-AU 9 17715863 17715863 single base substitution C T intron_variant MELA-AU 9 17716066 17716066 single base substitution G A intron_variant MELA-AU 9 17716258 17716258 single base substitution G A intron_variant MELA-AU 9 17716299 17716299 deletion of <=200bp A - intron_variant MELA-AU 9 17716404 17716404 single base substitution C T intron_variant MELA-AU 9 17716503 17716503 single base substitution C T intron_variant MELA-AU 9 17716566 17716566 single base substitution C T intron_variant MELA-AU 9 17716809 17716809 single base substitution C T intron_variant MELA-AU 9 17716935 17716935 single base substitution C T intron_variant MELA-AU 9 17716969 17716969 single base substitution C T intron_variant MELA-AU 9 17717001 17717001 single base substitution C T intron_variant MELA-AU 9 17717001 17717002 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 17717063 17717063 single base substitution C T intron_variant MELA-AU 9 17717121 17717121 single base substitution C T intron_variant MELA-AU 9 17717146 17717146 single base substitution C T intron_variant MELA-AU 9 17717216 17717216 single base substitution C T intron_variant MELA-AU 9 17717285 17717285 single base substitution C T intron_variant MELA-AU 9 17717475 17717475 single base substitution C T intron_variant MELA-AU 9 17717536 17717536 single base substitution G A intron_variant MELA-AU 9 17717746 17717746 single base substitution G A intron_variant MELA-AU 9 17717749 17717749 single base substitution G A intron_variant MELA-AU 9 17717912 17717912 single base substitution C T intron_variant MELA-AU 9 17718046 17718046 single base substitution G A intron_variant MELA-AU 9 17718217 17718217 single base substitution C T intron_variant MELA-AU 9 17718271 17718271 single base substitution C T intron_variant MELA-AU 9 17718310 17718310 single base substitution G A intron_variant MELA-AU 9 17718361 17718361 single base substitution G A intron_variant MELA-AU 9 17718456 17718456 single base substitution C T intron_variant MELA-AU 9 17718640 17718640 single base substitution C T intron_variant MELA-AU 9 17718652 17718652 single base substitution G A intron_variant MELA-AU 9 17718883 17718883 single base substitution G A intron_variant MELA-AU 9 17719007 17719007 single base substitution G A intron_variant MELA-AU 9 17719043 17719043 single base substitution G T intron_variant MELA-AU 9 17719156 17719156 single base substitution G A intron_variant MELA-AU 9 17719348 17719348 single base substitution A G intron_variant MELA-AU 9 17719378 17719378 single base substitution C T intron_variant MELA-AU 9 17719531 17719531 single base substitution C T intron_variant MELA-AU 9 17719543 17719543 single base substitution G A intron_variant MELA-AU 9 17719589 17719590 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 17719694 17719694 single base substitution G A intron_variant MELA-AU 9 17719920 17719920 single base substitution T G intron_variant MELA-AU 9 17719983 17719983 single base substitution C T intron_variant MELA-AU 9 17720269 17720269 single base substitution C T intron_variant MELA-AU 9 17720302 17720302 insertion of <=200bp - A intron_variant MELA-AU 9 17720355 17720355 single base substitution C T intron_variant MELA-AU 9 17720439 17720440 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 9 17720475 17720475 single base substitution G A intron_variant MELA-AU 9 17720659 17720659 single base substitution A G intron_variant MELA-AU 9 17720711 17720711 single base substitution G A intron_variant MELA-AU 9 17721229 17721229 single base substitution G A intron_variant MELA-AU 9 17721265 17721265 single base substitution C T intron_variant MELA-AU 9 17721308 17721308 single base substitution G A intron_variant MELA-AU 9 17721323 17721323 single base substitution A G intron_variant MELA-AU 9 17721428 17721428 single base substitution C T intron_variant MELA-AU 9 17721450 17721450 single base substitution C T intron_variant MELA-AU 9 17721765 17721765 single base substitution G A intron_variant MELA-AU 9 17721895 17721895 single base substitution G A intron_variant MELA-AU 9 17721917 17721917 single base substitution G A intron_variant MELA-AU 9 17722121 17722121 single base substitution C T intron_variant MELA-AU 9 17722243 17722243 single base substitution G A intron_variant MELA-AU 9 17722258 17722258 single base substitution C T intron_variant MELA-AU 9 17722401 17722401 single base substitution C T intron_variant MELA-AU 9 17722518 17722518 single base substitution T C intron_variant MELA-AU 9 17722533 17722533 single base substitution C T intron_variant MELA-AU 9 17722665 17722665 single base substitution C T intron_variant MELA-AU 9 17723154 17723154 single base substitution C T intron_variant MELA-AU 9 17723251 17723251 single base substitution C T intron_variant MELA-AU 9 17723341 17723341 single base substitution A C intron_variant MELA-AU 9 17723372 17723372 single base substitution C T intron_variant MELA-AU 9 17723570 17723570 single base substitution G A intron_variant MELA-AU 9 17723637 17723637 single base substitution C T intron_variant MELA-AU 9 17723665 17723665 single base substitution T C intron_variant MELA-AU 9 17723666 17723666 single base substitution C T intron_variant MELA-AU 9 17723675 17723675 single base substitution C T intron_variant MELA-AU 9 17723722 17723722 single base substitution G A intron_variant MELA-AU 9 17723739 17723739 single base substitution G A intron_variant MELA-AU 9 17723862 17723862 single base substitution C T intron_variant MELA-AU 9 17724046 17724046 single base substitution G C intron_variant MELA-AU 9 17724680 17724680 single base substitution C T intron_variant MELA-AU 9 17724793 17724793 single base substitution G A intron_variant MELA-AU 9 17724857 17724857 single base substitution C T intron_variant MELA-AU 9 17724938 17724938 single base substitution G A intron_variant MELA-AU 9 17725018 17725018 single base substitution G A intron_variant MELA-AU 9 17725274 17725274 single base substitution A T intron_variant MELA-AU 9 17725309 17725309 single base substitution C T intron_variant MELA-AU 9 17725458 17725458 single base substitution G A intron_variant MELA-AU 9 17725744 17725744 single base substitution G A intron_variant MELA-AU 9 17725889 17725889 single base substitution G A intron_variant MELA-AU 9 17726052 17726052 single base substitution G A intron_variant MELA-AU 9 17726087 17726087 single base substitution G A intron_variant MELA-AU 9 17726107 17726107 single base substitution A G intron_variant MELA-AU 9 17726362 17726362 single base substitution C T intron_variant MELA-AU 9 17726410 17726410 single base substitution T A intron_variant MELA-AU 9 17726541 17726541 single base substitution G A intron_variant MELA-AU 9 17726681 17726681 single base substitution G A intron_variant MELA-AU 9 17726682 17726682 single base substitution G A intron_variant MELA-AU 9 17726879 17726879 single base substitution G A intron_variant MELA-AU 9 17726896 17726896 single base substitution A G intron_variant MELA-AU 9 17727044 17727044 single base substitution C T intron_variant MELA-AU 9 17727072 17727072 single base substitution G A intron_variant MELA-AU 9 17727073 17727073 single base substitution G A intron_variant MELA-AU 9 17727347 17727347 single base substitution G A intron_variant MELA-AU 9 17727436 17727436 single base substitution C T intron_variant MELA-AU 9 17727592 17727592 single base substitution C T intron_variant MELA-AU 9 17727679 17727679 single base substitution G A intron_variant MELA-AU 9 17727718 17727718 single base substitution A G intron_variant MELA-AU 9 17727819 17727819 single base substitution T G intron_variant MELA-AU 9 17727977 17727977 single base substitution G A intron_variant MELA-AU 9 17727981 17727981 single base substitution G A intron_variant MELA-AU 9 17728178 17728178 single base substitution C T intron_variant MELA-AU 9 17728198 17728198 single base substitution C T intron_variant MELA-AU 9 17728809 17728809 single base substitution T C intron_variant MELA-AU 9 17728995 17728995 single base substitution G A intron_variant MELA-AU 9 17729055 17729055 single base substitution C T intron_variant MELA-AU 9 17729150 17729150 single base substitution C T intron_variant MELA-AU 9 17729209 17729209 single base substitution T C intron_variant MELA-AU 9 17729293 17729293 single base substitution C T intron_variant MELA-AU 9 17729340 17729340 single base substitution C T intron_variant MELA-AU 9 17729404 17729404 single base substitution C T intron_variant MELA-AU 9 17729799 17729799 single base substitution T C intron_variant MELA-AU 9 17730105 17730105 single base substitution C T intron_variant MELA-AU 9 17730178 17730178 single base substitution C T intron_variant MELA-AU 9 17730198 17730199 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 17730429 17730429 single base substitution C T intron_variant MELA-AU 9 17730745 17730745 single base substitution G A intron_variant MELA-AU 9 17730745 17730745 single base substitution G A upstream_gene_variant MELA-AU 9 17730833 17730833 single base substitution C T intron_variant MELA-AU 9 17730833 17730833 single base substitution C T upstream_gene_variant MELA-AU 9 17730942 17730942 single base substitution G A intron_variant MELA-AU 9 17730942 17730942 single base substitution G A upstream_gene_variant MELA-AU 9 17731051 17731051 single base substitution G A intron_variant MELA-AU 9 17731051 17731051 single base substitution G A upstream_gene_variant MELA-AU 9 17731092 17731092 single base substitution C T intron_variant MELA-AU 9 17731092 17731092 single base substitution C T upstream_gene_variant MELA-AU 9 17731107 17731107 single base substitution G A intron_variant MELA-AU 9 17731107 17731107 single base substitution G A upstream_gene_variant MELA-AU 9 17731335 17731335 single base substitution C T intron_variant MELA-AU 9 17731335 17731335 single base substitution C T upstream_gene_variant MELA-AU 9 17731383 17731383 single base substitution G A intron_variant MELA-AU 9 17731383 17731383 single base substitution G A upstream_gene_variant MELA-AU 9 17731425 17731425 single base substitution G A intron_variant MELA-AU 9 17731425 17731425 single base substitution G A upstream_gene_variant MELA-AU 9 17731439 17731439 single base substitution G A intron_variant MELA-AU 9 17731439 17731439 single base substitution G A upstream_gene_variant MELA-AU 9 17731654 17731654 single base substitution C T intron_variant MELA-AU 9 17731654 17731654 single base substitution C T upstream_gene_variant MELA-AU 9 17731754 17731754 single base substitution T C intron_variant MELA-AU 9 17731754 17731754 single base substitution T C upstream_gene_variant MELA-AU 9 17731860 17731860 single base substitution C T intron_variant MELA-AU 9 17731860 17731860 single base substitution C T upstream_gene_variant MELA-AU 9 17732118 17732118 single base substitution G A intron_variant MELA-AU 9 17732118 17732118 single base substitution G A upstream_gene_variant MELA-AU 9 17732232 17732232 single base substitution C T intron_variant MELA-AU 9 17732232 17732232 single base substitution C T upstream_gene_variant MELA-AU 9 17732340 17732340 single base substitution C T intron_variant MELA-AU 9 17732340 17732340 single base substitution C T upstream_gene_variant MELA-AU 9 17732420 17732420 single base substitution C T intron_variant MELA-AU 9 17732420 17732420 single base substitution C T upstream_gene_variant MELA-AU 9 17732432 17732432 single base substitution C T intron_variant MELA-AU 9 17732432 17732432 single base substitution C T upstream_gene_variant MELA-AU 9 17732482 17732482 single base substitution A C intron_variant MELA-AU 9 17732482 17732482 single base substitution A C upstream_gene_variant MELA-AU 9 17732505 17732505 single base substitution C T intron_variant MELA-AU 9 17732505 17732505 single base substitution C T upstream_gene_variant MELA-AU 9 17732518 17732518 single base substitution G A intron_variant MELA-AU 9 17732518 17732518 single base substitution G A upstream_gene_variant MELA-AU 9 17732740 17732740 single base substitution G A intron_variant MELA-AU 9 17732740 17732740 single base substitution G A upstream_gene_variant MELA-AU 9 17732944 17732944 single base substitution C A intron_variant MELA-AU 9 17732944 17732944 single base substitution C A upstream_gene_variant MELA-AU 9 17733086 17733086 single base substitution C T intron_variant MELA-AU 9 17733086 17733086 single base substitution C T upstream_gene_variant MELA-AU 9 17733275 17733275 single base substitution C T intron_variant MELA-AU 9 17733275 17733275 single base substitution C T upstream_gene_variant MELA-AU 9 17733278 17733278 single base substitution T G intron_variant MELA-AU 9 17733278 17733278 single base substitution T G upstream_gene_variant MELA-AU 9 17733457 17733457 single base substitution G T intron_variant MELA-AU 9 17733457 17733457 single base substitution G T upstream_gene_variant MELA-AU 9 17733631 17733631 single base substitution G A intron_variant MELA-AU 9 17733631 17733631 single base substitution G A upstream_gene_variant MELA-AU 9 17733642 17733642 single base substitution C T intron_variant MELA-AU 9 17733642 17733642 single base substitution C T upstream_gene_variant MELA-AU 9 17734109 17734109 single base substitution C T intron_variant MELA-AU 9 17734109 17734109 single base substitution C T upstream_gene_variant MELA-AU 9 17734159 17734159 single base substitution C T intron_variant MELA-AU 9 17734159 17734159 single base substitution C T upstream_gene_variant MELA-AU 9 17734254 17734254 single base substitution T G intron_variant MELA-AU 9 17734254 17734254 single base substitution T G upstream_gene_variant MELA-AU 9 17734446 17734446 single base substitution C T intron_variant MELA-AU 9 17734446 17734446 single base substitution C T upstream_gene_variant MELA-AU 9 17734915 17734915 single base substitution C T intron_variant MELA-AU 9 17734915 17734915 single base substitution C T upstream_gene_variant MELA-AU 9 17735129 17735129 single base substitution A T intron_variant MELA-AU 9 17735129 17735129 single base substitution A T upstream_gene_variant MELA-AU 9 17735478 17735478 single base substitution A G intron_variant MELA-AU 9 17735478 17735478 single base substitution A G upstream_gene_variant MELA-AU 9 17735669 17735669 single base substitution C T intron_variant MELA-AU 9 17735669 17735669 single base substitution C T upstream_gene_variant MELA-AU 9 17735735 17735735 single base substitution G A 5_prime_UTR_variant MELA-AU 9 17735735 17735735 single base substitution G A intron_variant MELA-AU 9 17735965 17735965 single base substitution G A intron_variant MELA-AU 9 17736380 17736380 single base substitution C T intron_variant MELA-AU 9 17736693 17736693 single base substitution C T intron_variant MELA-AU 9 17736738 17736738 single base substitution G A intron_variant MELA-AU 9 17736761 17736761 single base substitution G A intron_variant MELA-AU 9 17737438 17737438 single base substitution C T intron_variant MELA-AU 9 17737455 17737455 single base substitution C T intron_variant MELA-AU 9 17737460 17737460 single base substitution T C intron_variant MELA-AU 9 17737586 17737586 single base substitution C T intron_variant MELA-AU 9 17737656 17737656 single base substitution C T intron_variant MELA-AU 9 17737665 17737665 single base substitution C T intron_variant MELA-AU 9 17737667 17737667 single base substitution C T intron_variant MELA-AU 9 17737700 17737700 single base substitution C T intron_variant MELA-AU 9 17737812 17737812 single base substitution C T intron_variant MELA-AU 9 17738625 17738625 insertion of <=200bp - TATATATATA intron_variant MELA-AU 9 17738688 17738688 single base substitution G A intron_variant MELA-AU 9 17738838 17738839 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 17738839 17738839 single base substitution C T intron_variant MELA-AU 9 17738984 17738984 single base substitution G A intron_variant MELA-AU 9 17739176 17739176 single base substitution T C intron_variant MELA-AU 9 17739365 17739365 single base substitution G A intron_variant MELA-AU 9 17739495 17739495 single base substitution C T intron_variant MELA-AU 9 17739760 17739760 single base substitution C T intron_variant MELA-AU 9 17739830 17739830 single base substitution C T intron_variant MELA-AU 9 17739970 17739970 single base substitution G A intron_variant MELA-AU 9 17740249 17740249 single base substitution C T intron_variant MELA-AU 9 17740367 17740367 single base substitution G A intron_variant MELA-AU 9 17740437 17740437 single base substitution C T intron_variant MELA-AU 9 17740504 17740504 single base substitution T A intron_variant MELA-AU 9 17740670 17740670 single base substitution C T intron_variant MELA-AU 9 17740928 17740928 single base substitution C T intron_variant MELA-AU 9 17741209 17741209 single base substitution C T intron_variant MELA-AU 9 17741525 17741525 single base substitution C T intron_variant MELA-AU 9 17741817 17741817 single base substitution C T intron_variant MELA-AU 9 17741859 17741859 single base substitution G A intron_variant MELA-AU 9 17742536 17742536 single base substitution C T intron_variant MELA-AU 9 17742946 17742946 single base substitution G A intron_variant MELA-AU 9 17743151 17743151 single base substitution G A intron_variant MELA-AU 9 17743230 17743230 single base substitution C T intron_variant MELA-AU 9 17743243 17743243 single base substitution C T intron_variant MELA-AU 9 17743330 17743330 single base substitution C T intron_variant MELA-AU 9 17743483 17743483 single base substitution G A intron_variant MELA-AU 9 17743511 17743511 single base substitution T C intron_variant MELA-AU 9 17743620 17743620 single base substitution G A intron_variant MELA-AU 9 17743708 17743708 single base substitution G A intron_variant MELA-AU 9 17743747 17743747 single base substitution G A intron_variant MELA-AU 9 17743881 17743881 single base substitution G A intron_variant MELA-AU 9 17743956 17743956 single base substitution C T intron_variant MELA-AU 9 17744312 17744312 single base substitution C T intron_variant MELA-AU 9 17744361 17744361 single base substitution C T intron_variant MELA-AU 9 17744387 17744387 single base substitution C T intron_variant MELA-AU 9 17744707 17744707 single base substitution C T intron_variant MELA-AU 9 17745298 17745298 single base substitution G A intron_variant MELA-AU 9 17745324 17745324 single base substitution G A intron_variant MELA-AU 9 17745470 17745470 single base substitution G A intron_variant MELA-AU 9 17745698 17745698 single base substitution G A intron_variant MELA-AU 9 17745735 17745735 single base substitution G A intron_variant MELA-AU 9 17745736 17745736 single base substitution G A intron_variant MELA-AU 9 17745911 17745911 single base substitution G A intron_variant MELA-AU 9 17746325 17746325 single base substitution C T intron_variant MELA-AU 9 17746617 17746617 single base substitution T G intron_variant MELA-AU 9 17746623 17746623 single base substitution G A intron_variant MELA-AU 9 17746870 17746870 single base substitution G A intron_variant MELA-AU 9 17746951 17746951 single base substitution G A intron_variant MELA-AU 9 17747095 17747095 single base substitution G A 5_prime_UTR_variant MELA-AU 9 17747095 17747095 single base substitution G A missense_variant G26E 77G>A MELA-AU 9 17747127 17747127 single base substitution G A 5_prime_UTR_variant MELA-AU 9 17747127 17747127 single base substitution G A missense_variant E37K 109G>A MELA-AU 9 17747611 17747611 single base substitution C T intron_variant MELA-AU 9 17747635 17747635 single base substitution C T intron_variant MELA-AU 9 17747732 17747732 single base substitution G A intron_variant MELA-AU 9 17747758 17747758 single base substitution C T intron_variant MELA-AU 9 17747779 17747779 single base substitution C T intron_variant MELA-AU 9 17747954 17747954 single base substitution G A intron_variant MELA-AU 9 17747975 17747976 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 17748240 17748240 single base substitution C T intron_variant MELA-AU 9 17748533 17748533 single base substitution C T intron_variant MELA-AU 9 17748576 17748576 single base substitution C T intron_variant MELA-AU 9 17748676 17748676 single base substitution G A intron_variant MELA-AU 9 17748692 17748692 single base substitution C T intron_variant MELA-AU 9 17748709 17748709 single base substitution C T intron_variant MELA-AU 9 17748725 17748725 single base substitution G A intron_variant MELA-AU 9 17748827 17748827 single base substitution G A intron_variant MELA-AU 9 17748923 17748923 single base substitution C A intron_variant MELA-AU 9 17748971 17748971 single base substitution G A intron_variant MELA-AU 9 17749094 17749094 single base substitution G A intron_variant MELA-AU 9 17749142 17749142 single base substitution G A intron_variant MELA-AU 9 17749596 17749596 single base substitution G A intron_variant MELA-AU 9 17749666 17749666 single base substitution G A intron_variant MELA-AU 9 17749782 17749782 single base substitution G A intron_variant MELA-AU 9 17749936 17749936 single base substitution T G intron_variant MELA-AU 9 17749954 17749954 single base substitution C T intron_variant MELA-AU 9 17750122 17750122 single base substitution C T intron_variant MELA-AU 9 17750174 17750174 single base substitution C T intron_variant MELA-AU 9 17750632 17750632 single base substitution G A intron_variant MELA-AU 9 17750712 17750712 single base substitution G A intron_variant MELA-AU 9 17750785 17750785 single base substitution G T intron_variant MELA-AU 9 17750938 17750938 single base substitution C T intron_variant MELA-AU 9 17751165 17751165 single base substitution G A intron_variant MELA-AU 9 17751179 17751179 single base substitution G A intron_variant MELA-AU 9 17751260 17751260 single base substitution G A intron_variant MELA-AU 9 17751331 17751331 single base substitution G A intron_variant MELA-AU 9 17751415 17751415 single base substitution C T intron_variant MELA-AU 9 17751563 17751563 single base substitution C T intron_variant MELA-AU 9 17751816 17751816 single base substitution G A intron_variant MELA-AU 9 17751853 17751853 single base substitution C T intron_variant MELA-AU 9 17751855 17751855 single base substitution C T intron_variant MELA-AU 9 17751920 17751920 single base substitution C T intron_variant MELA-AU 9 17752205 17752205 single base substitution C T intron_variant MELA-AU 9 17752208 17752208 single base substitution G A intron_variant MELA-AU 9 17752421 17752421 single base substitution C T intron_variant MELA-AU 9 17752544 17752544 single base substitution G A intron_variant MELA-AU 9 17752679 17752679 single base substitution G A intron_variant MELA-AU 9 17752681 17752681 single base substitution T G intron_variant MELA-AU 9 17752730 17752730 single base substitution G A intron_variant MELA-AU 9 17752792 17752792 single base substitution G A intron_variant MELA-AU 9 17752838 17752838 single base substitution C T intron_variant MELA-AU 9 17753028 17753028 single base substitution G A intron_variant MELA-AU 9 17753339 17753339 single base substitution C T intron_variant MELA-AU 9 17753446 17753446 single base substitution T C intron_variant MELA-AU 9 17753478 17753478 single base substitution G A intron_variant MELA-AU 9 17753488 17753488 single base substitution C T intron_variant MELA-AU 9 17753634 17753634 single base substitution C G intron_variant MELA-AU 9 17753683 17753683 single base substitution C T intron_variant MELA-AU 9 17753684 17753684 single base substitution C T intron_variant MELA-AU 9 17753735 17753735 single base substitution G A intron_variant MELA-AU 9 17753751 17753751 single base substitution C T intron_variant MELA-AU 9 17753940 17753940 single base substitution C T intron_variant MELA-AU 9 17753957 17753957 single base substitution T C intron_variant MELA-AU 9 17754324 17754324 single base substitution C T intron_variant MELA-AU 9 17754417 17754417 single base substitution A G intron_variant MELA-AU 9 17754467 17754467 single base substitution C T intron_variant MELA-AU 9 17754545 17754545 single base substitution C T intron_variant MELA-AU 9 17754625 17754625 single base substitution C T intron_variant MELA-AU 9 17754703 17754703 single base substitution C T intron_variant MELA-AU 9 17754814 17754814 single base substitution G A intron_variant MELA-AU 9 17754915 17754915 single base substitution C T intron_variant MELA-AU 9 17754934 17754934 single base substitution G A intron_variant MELA-AU 9 17754977 17754978 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 9 17755110 17755110 single base substitution G A intron_variant MELA-AU 9 17755195 17755195 single base substitution G A intron_variant MELA-AU 9 17755326 17755326 single base substitution G A intron_variant MELA-AU 9 17755515 17755515 single base substitution G A intron_variant MELA-AU 9 17755743 17755743 single base substitution C T intron_variant MELA-AU 9 17755743 17755743 single base substitution C T splice_region_variant MELA-AU 9 17755840 17755840 single base substitution C T intron_variant MELA-AU 9 17755860 17755860 single base substitution A G intron_variant MELA-AU 9 17755976 17755976 single base substitution G A intron_variant MELA-AU 9 17756036 17756036 single base substitution C T intron_variant MELA-AU 9 17756061 17756061 single base substitution A G intron_variant MELA-AU 9 17756064 17756064 single base substitution C T intron_variant MELA-AU 9 17756114 17756114 single base substitution G A intron_variant MELA-AU 9 17756303 17756303 single base substitution C T intron_variant MELA-AU 9 17756571 17756571 single base substitution G A intron_variant MELA-AU 9 17756907 17756907 single base substitution C T intron_variant MELA-AU 9 17757147 17757147 single base substitution C T intron_variant MELA-AU 9 17757246 17757251 deletion of <=200bp GCATTA - intron_variant MELA-AU 9 17757650 17757650 single base substitution G A intron_variant MELA-AU 9 17757779 17757779 single base substitution A T intron_variant MELA-AU 9 17757845 17757845 single base substitution C T intron_variant MELA-AU 9 17758162 17758162 single base substitution C T intron_variant MELA-AU 9 17758356 17758356 single base substitution C T intron_variant MELA-AU 9 17758455 17758455 single base substitution G A intron_variant MELA-AU 9 17758523 17758523 insertion of <=200bp - GCACTCCAGC intron_variant MELA-AU 9 17758538 17758538 single base substitution G A intron_variant MELA-AU 9 17758720 17758720 single base substitution C T intron_variant MELA-AU 9 17758725 17758725 single base substitution G A intron_variant MELA-AU 9 17758886 17758886 single base substitution G A intron_variant MELA-AU 9 17759012 17759012 single base substitution C T intron_variant MELA-AU 9 17759026 17759026 single base substitution T C intron_variant MELA-AU 9 17759070 17759070 single base substitution A G intron_variant MELA-AU 9 17759182 17759182 single base substitution G A intron_variant MELA-AU 9 17759197 17759197 single base substitution G A intron_variant MELA-AU 9 17759388 17759389 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 17759473 17759473 single base substitution C T intron_variant MELA-AU 9 17759535 17759535 single base substitution G A intron_variant MELA-AU 9 17759606 17759606 single base substitution G A intron_variant MELA-AU 9 17759764 17759764 single base substitution A G intron_variant MELA-AU 9 17759812 17759812 single base substitution C T intron_variant MELA-AU 9 17759821 17759821 single base substitution C T intron_variant MELA-AU 9 17760158 17760158 single base substitution G A intron_variant MELA-AU 9 17760163 17760163 single base substitution T A intron_variant MELA-AU 9 17760207 17760207 single base substitution C T intron_variant MELA-AU 9 17760252 17760252 single base substitution T C intron_variant MELA-AU 9 17761029 17761029 single base substitution C T intron_variant MELA-AU 9 17761093 17761093 single base substitution C T intron_variant MELA-AU 9 17761167 17761167 single base substitution C T intron_variant MELA-AU 9 17761204 17761204 single base substitution T C intron_variant MELA-AU 9 17761293 17761293 single base substitution C T intron_variant MELA-AU 9 17761465 17761465 single base substitution G A missense_variant E2K 4G>A MELA-AU 9 17761465 17761465 single base substitution G A missense_variant E49K 145G>A MELA-AU 9 17761558 17761558 single base substitution T A intron_variant MELA-AU 9 17761870 17761870 single base substitution C T intron_variant MELA-AU 9 17761930 17761930 single base substitution C T intron_variant MELA-AU 9 17761997 17761997 single base substitution A G intron_variant MELA-AU 9 17762039 17762039 single base substitution G A intron_variant MELA-AU 9 17762171 17762171 single base substitution C T intron_variant MELA-AU 9 17762416 17762416 single base substitution G A intron_variant MELA-AU 9 17762468 17762468 single base substitution C T intron_variant MELA-AU 9 17762795 17762795 single base substitution C T intron_variant MELA-AU 9 17762974 17762974 single base substitution G A intron_variant MELA-AU 9 17762985 17762985 single base substitution G A intron_variant MELA-AU 9 17763298 17763298 single base substitution C T intron_variant MELA-AU 9 17763337 17763337 single base substitution G A intron_variant MELA-AU 9 17763383 17763383 single base substitution G A intron_variant MELA-AU 9 17763588 17763588 single base substitution G A intron_variant MELA-AU 9 17763778 17763778 single base substitution C T intron_variant MELA-AU 9 17763830 17763830 single base substitution C T intron_variant MELA-AU 9 17764311 17764311 single base substitution C T intron_variant MELA-AU 9 17764616 17764616 single base substitution G A intron_variant MELA-AU 9 17765420 17765420 single base substitution T C intron_variant MELA-AU 9 17765544 17765544 single base substitution C T intron_variant MELA-AU 9 17765632 17765632 single base substitution C T intron_variant MELA-AU 9 17765841 17765841 single base substitution C T intron_variant MELA-AU 9 17765882 17765882 single base substitution G A intron_variant MELA-AU 9 17765976 17765976 single base substitution C T intron_variant MELA-AU 9 17766141 17766141 single base substitution G A intron_variant MELA-AU 9 17766176 17766176 single base substitution C T intron_variant MELA-AU 9 17766488 17766488 single base substitution G A intron_variant MELA-AU 9 17766622 17766622 single base substitution C G intron_variant MELA-AU 9 17766691 17766691 single base substitution G A intron_variant MELA-AU 9 17767468 17767468 single base substitution C A intron_variant MELA-AU 9 17767715 17767715 single base substitution C T intron_variant MELA-AU 9 17767721 17767721 single base substitution C T intron_variant MELA-AU 9 17767932 17767932 single base substitution G A intron_variant MELA-AU 9 17767933 17767933 single base substitution G A intron_variant MELA-AU 9 17767942 17767942 single base substitution G A intron_variant MELA-AU 9 17768252 17768252 single base substitution C T intron_variant MELA-AU 9 17768323 17768323 single base substitution C T intron_variant MELA-AU 9 17768676 17768676 single base substitution C T intron_variant MELA-AU 9 17768848 17768848 single base substitution C T intron_variant MELA-AU 9 17769310 17769310 single base substitution C T intron_variant MELA-AU 9 17769503 17769503 single base substitution C T intron_variant MELA-AU 9 17769603 17769603 single base substitution C T intron_variant MELA-AU 9 17769625 17769625 single base substitution C T intron_variant MELA-AU 9 17769641 17769641 single base substitution C T intron_variant MELA-AU 9 17769667 17769667 single base substitution T C intron_variant MELA-AU 9 17769766 17769766 single base substitution C T intron_variant MELA-AU 9 17769827 17769827 single base substitution C T intron_variant MELA-AU 9 17770014 17770014 single base substitution T G intron_variant MELA-AU 9 17770015 17770015 single base substitution C T intron_variant MELA-AU 9 17771207 17771207 single base substitution G A intron_variant MELA-AU 9 17771218 17771218 single base substitution C T intron_variant MELA-AU 9 17771229 17771229 single base substitution C T intron_variant MELA-AU 9 17771450 17771450 single base substitution G A intron_variant MELA-AU 9 17771770 17771772 multiple base substitution (>=2bp and <=200bp) TCC CTT intron_variant MELA-AU 9 17771782 17771782 single base substitution C T intron_variant MELA-AU 9 17772022 17772022 single base substitution A G intron_variant MELA-AU 9 17772058 17772058 single base substitution C T intron_variant MELA-AU 9 17772088 17772088 single base substitution C T intron_variant MELA-AU 9 17772156 17772156 single base substitution C T intron_variant MELA-AU 9 17772163 17772163 single base substitution G A intron_variant MELA-AU 9 17772236 17772236 single base substitution G A intron_variant MELA-AU 9 17772301 17772301 single base substitution A T intron_variant MELA-AU 9 17772497 17772497 single base substitution C T intron_variant MELA-AU 9 17772537 17772537 single base substitution C T intron_variant MELA-AU 9 17772565 17772565 single base substitution C T intron_variant MELA-AU 9 17772683 17772683 single base substitution T A intron_variant MELA-AU 9 17772685 17772685 single base substitution A G intron_variant MELA-AU 9 17772864 17772864 single base substitution G A intron_variant MELA-AU 9 17773078 17773078 single base substitution G A intron_variant MELA-AU 9 17773135 17773135 single base substitution G A intron_variant MELA-AU 9 17773286 17773286 single base substitution T C intron_variant MELA-AU 9 17773636 17773636 single base substitution G A intron_variant MELA-AU 9 17773719 17773719 single base substitution C T intron_variant MELA-AU 9 17773817 17773817 single base substitution C T intron_variant MELA-AU 9 17773848 17773848 single base substitution G A intron_variant MELA-AU 9 17773867 17773867 single base substitution C T intron_variant MELA-AU 9 17774023 17774023 single base substitution T A intron_variant MELA-AU 9 17774066 17774066 single base substitution G A intron_variant MELA-AU 9 17774084 17774084 single base substitution C T intron_variant MELA-AU 9 17774357 17774357 single base substitution C T intron_variant MELA-AU 9 17774466 17774466 single base substitution C T intron_variant MELA-AU 9 17774680 17774680 single base substitution G A intron_variant MELA-AU 9 17774887 17774887 single base substitution C T intron_variant MELA-AU 9 17774894 17774894 single base substitution G A intron_variant MELA-AU 9 17774989 17774989 single base substitution C T intron_variant MELA-AU 9 17775034 17775034 single base substitution C T intron_variant MELA-AU 9 17775058 17775058 single base substitution C T intron_variant MELA-AU 9 17775246 17775246 single base substitution C T intron_variant MELA-AU 9 17775247 17775247 single base substitution C T intron_variant MELA-AU 9 17775326 17775326 single base substitution G A intron_variant MELA-AU 9 17775352 17775352 single base substitution C T intron_variant MELA-AU 9 17775371 17775371 single base substitution G A intron_variant MELA-AU 9 17775404 17775404 single base substitution C T intron_variant MELA-AU 9 17775458 17775458 single base substitution G A intron_variant MELA-AU 9 17775513 17775513 single base substitution G A intron_variant MELA-AU 9 17775643 17775643 single base substitution T A intron_variant MELA-AU 9 17775751 17775751 single base substitution C T intron_variant MELA-AU 9 17775885 17775885 single base substitution G A intron_variant MELA-AU 9 17775947 17775947 single base substitution C T intron_variant MELA-AU 9 17776070 17776070 single base substitution G A intron_variant MELA-AU 9 17776301 17776301 single base substitution C T intron_variant MELA-AU 9 17776313 17776313 single base substitution C T intron_variant MELA-AU 9 17777323 17777323 single base substitution G A intron_variant MELA-AU 9 17777657 17777658 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 17777693 17777693 single base substitution G A intron_variant MELA-AU 9 17777903 17777903 single base substitution C T intron_variant MELA-AU 9 17778336 17778336 single base substitution C T intron_variant MELA-AU 9 17778662 17778662 single base substitution G A intron_variant MELA-AU 9 17778687 17778687 single base substitution C T intron_variant MELA-AU 9 17778729 17778729 single base substitution C T intron_variant MELA-AU 9 17778903 17778903 single base substitution G A intron_variant MELA-AU 9 17779143 17779143 single base substitution C T intron_variant MELA-AU 9 17779144 17779144 single base substitution C T intron_variant MELA-AU 9 17779357 17779357 single base substitution G A intron_variant MELA-AU 9 17779418 17779418 single base substitution C T intron_variant MELA-AU 9 17779427 17779427 single base substitution C T intron_variant MELA-AU 9 17779479 17779479 single base substitution C T intron_variant MELA-AU 9 17779979 17779979 single base substitution A G intron_variant MELA-AU 9 17780032 17780032 single base substitution G A intron_variant MELA-AU 9 17780068 17780068 single base substitution G A intron_variant MELA-AU 9 17780479 17780479 single base substitution A T intron_variant MELA-AU 9 17780481 17780481 single base substitution T A intron_variant MELA-AU 9 17781476 17781476 single base substitution G C intron_variant MELA-AU 9 17781491 17781491 single base substitution C T intron_variant MELA-AU 9 17781579 17781579 single base substitution G C intron_variant MELA-AU 9 17781773 17781773 single base substitution C T intron_variant MELA-AU 9 17781825 17781825 single base substitution C T intron_variant MELA-AU 9 17781983 17781983 single base substitution G A intron_variant MELA-AU 9 17782005 17782005 single base substitution C A intron_variant MELA-AU 9 17782388 17782388 single base substitution G A intron_variant MELA-AU 9 17782412 17782412 single base substitution C T intron_variant MELA-AU 9 17782493 17782493 single base substitution C T intron_variant MELA-AU 9 17782547 17782547 single base substitution C T intron_variant MELA-AU 9 17782708 17782708 single base substitution G A intron_variant MELA-AU 9 17783323 17783323 single base substitution G A intron_variant MELA-AU 9 17783842 17783842 single base substitution C G intron_variant MELA-AU 9 17783972 17783972 single base substitution G A intron_variant MELA-AU 9 17784112 17784112 single base substitution G A intron_variant MELA-AU 9 17784184 17784184 single base substitution G A intron_variant MELA-AU 9 17784293 17784293 single base substitution T C intron_variant MELA-AU 9 17784878 17784878 single base substitution C T intron_variant MELA-AU 9 17785240 17785240 single base substitution C T intron_variant MELA-AU 9 17785431 17785444 deletion of <=200bp CAAAGTTTAAATAA - intron_variant MELA-AU 9 17785447 17785447 single base substitution G A intron_variant MELA-AU 9 17785556 17785556 single base substitution G A intron_variant MELA-AU 9 17785972 17785972 single base substitution G A intron_variant MELA-AU 9 17786041 17786041 single base substitution G A intron_variant MELA-AU 9 17786451 17786451 single base substitution C T missense_variant P40L 119C>T MELA-AU 9 17786451 17786451 single base substitution C T missense_variant P87L 260C>T MELA-AU 9 17786682 17786682 single base substitution C T intron_variant MELA-AU 9 17786689 17786689 single base substitution T G intron_variant MELA-AU 9 17786708 17786719 deletion of <=200bp CAAGTTTTCTTC - intron_variant MELA-AU 9 17787008 17787008 single base substitution C T intron_variant MELA-AU 9 17787048 17787048 single base substitution G A intron_variant MELA-AU 9 17787782 17787782 single base substitution G A intron_variant MELA-AU 9 17787797 17787797 single base substitution C T intron_variant MELA-AU 9 17787866 17787866 single base substitution T C intron_variant MELA-AU 9 17788191 17788191 single base substitution C T intron_variant MELA-AU 9 17788273 17788273 single base substitution C T intron_variant MELA-AU 9 17788301 17788301 single base substitution A T intron_variant MELA-AU 9 17788453 17788453 single base substitution C T intron_variant MELA-AU 9 17788467 17788467 single base substitution C T intron_variant MELA-AU 9 17788861 17788861 single base substitution G A intron_variant MELA-AU 9 17788980 17788980 single base substitution C T intron_variant MELA-AU 9 17789012 17789012 single base substitution G A intron_variant MELA-AU 9 17789073 17789073 single base substitution C T intron_variant MELA-AU 9 17789293 17789293 single base substitution T G intron_variant MELA-AU 9 17789460 17789460 single base substitution C T missense_variant P132L 395C>T MELA-AU 9 17789460 17789460 single base substitution C T missense_variant P179L 536C>T MELA-AU 9 17789584 17789584 single base substitution C T intron_variant MELA-AU 9 17789587 17789587 single base substitution C T intron_variant MELA-AU 9 17789829 17789829 single base substitution C T intron_variant MELA-AU 9 17789841 17789841 single base substitution C T intron_variant MELA-AU 9 17790003 17790003 single base substitution G A intron_variant MELA-AU 9 17790091 17790091 single base substitution G A intron_variant MELA-AU 9 17790177 17790177 single base substitution C T intron_variant MELA-AU 9 17790236 17790236 single base substitution G A intron_variant MELA-AU 9 17790595 17790595 single base substitution C T intron_variant MELA-AU 9 17790691 17790691 single base substitution G A intron_variant MELA-AU 9 17790761 17790761 single base substitution G A intron_variant MELA-AU 9 17790980 17790980 single base substitution G A intron_variant MELA-AU 9 17791468 17791468 single base substitution G A intron_variant MELA-AU 9 17791545 17791545 single base substitution C T intron_variant MELA-AU 9 17791701 17791701 single base substitution G A intron_variant MELA-AU 9 17791734 17791734 single base substitution G A intron_variant MELA-AU 9 17792118 17792118 single base substitution G A intron_variant MELA-AU 9 17792175 17792175 single base substitution C T intron_variant MELA-AU 9 17792528 17792528 single base substitution T C intron_variant MELA-AU 9 17793129 17793129 single base substitution G A intron_variant MELA-AU 9 17793655 17793655 single base substitution C T intron_variant MELA-AU 9 17793782 17793782 single base substitution C A intron_variant MELA-AU 9 17794042 17794042 single base substitution C T intron_variant MELA-AU 9 17794122 17794122 single base substitution C T intron_variant MELA-AU 9 17794310 17794310 single base substitution C T intron_variant MELA-AU 9 17795098 17795098 single base substitution C T intron_variant MELA-AU 9 17795109 17795109 single base substitution C T intron_variant MELA-AU 9 17795502 17795502 single base substitution C T intron_variant MELA-AU 9 17795553 17795553 single base substitution G A missense_variant D244N 730G>A MELA-AU 9 17795553 17795553 single base substitution G A missense_variant D291N 871G>A MELA-AU 9 17795715 17795715 single base substitution G A missense_variant E298K 892G>A MELA-AU 9 17795715 17795715 single base substitution G A missense_variant E345K 1033G>A MELA-AU 9 17795856 17795856 single base substitution C T 3_prime_UTR_variant MELA-AU 9 17795856 17795856 single base substitution C T downstream_gene_variant MELA-AU 9 17795914 17795914 single base substitution G A 3_prime_UTR_variant MELA-AU 9 17795914 17795914 single base substitution G A downstream_gene_variant MELA-AU 9 17795974 17795974 single base substitution A T 3_prime_UTR_variant MELA-AU 9 17795974 17795974 single base substitution A T downstream_gene_variant MELA-AU 9 17798420 17798420 single base substitution C T downstream_gene_variant MELA-AU 9 17798696 17798696 single base substitution G A downstream_gene_variant MELA-AU 9 17800330 17800330 single base substitution G A downstream_gene_variant MELA-AU 9 17801061 17801061 single base substitution C T downstream_gene_variant MELA-AU 9 17801815 17801815 single base substitution C T downstream_gene_variant MELA-AU 9 17801982 17801982 single base substitution T C downstream_gene_variant NBL-US 9 17795686 17795686 single base substitution A T missense_variant H288L 863A>T NBL-US 9 17795686 17795686 single base substitution A T missense_variant H335L 1004A>T ORCA-IN 9 17578182 17578182 single base substitution G C upstream_gene_variant ORCA-IN 9 17592862 17592862 single base substitution G A intron_variant ORCA-IN 9 17599046 17599046 single base substitution C A intron_variant ORCA-IN 9 17607720 17607720 deletion of <=200bp C - intron_variant ORCA-IN 9 17618687 17618687 single base substitution G A intron_variant ORCA-IN 9 17625011 17625011 single base substitution G A intron_variant ORCA-IN 9 17638965 17638965 single base substitution C G intron_variant ORCA-IN 9 17645734 17645734 single base substitution G A intron_variant ORCA-IN 9 17646432 17646432 single base substitution T C intron_variant ORCA-IN 9 17648293 17648293 single base substitution G C intron_variant ORCA-IN 9 17656786 17656786 deletion of <=200bp C - intron_variant ORCA-IN 9 17682785 17682785 single base substitution A G intron_variant ORCA-IN 9 17736453 17736453 single base substitution C G intron_variant ORCA-IN 9 17748891 17748891 single base substitution C T intron_variant ORCA-IN 9 17758776 17758776 single base substitution A G intron_variant ORCA-IN 9 17769884 17769884 single base substitution C G intron_variant ORCA-IN 9 17797127 17797127 single base substitution A C 3_prime_UTR_variant ORCA-IN 9 17797127 17797127 single base substitution A C downstream_gene_variant OV-AU 9 17579889 17579889 single base substitution C G intron_variant OV-AU 9 17585209 17585209 single base substitution G A intron_variant OV-AU 9 17586932 17586932 single base substitution C T intron_variant OV-AU 9 17590158 17590158 single base substitution G A intron_variant OV-AU 9 17591481 17591481 single base substitution A T intron_variant OV-AU 9 17592514 17592514 single base substitution T C intron_variant OV-AU 9 17593683 17593683 single base substitution A T intron_variant OV-AU 9 17595610 17595610 single base substitution G A intron_variant OV-AU 9 17597003 17597003 single base substitution T C intron_variant OV-AU 9 17597951 17597951 single base substitution G T intron_variant OV-AU 9 17600459 17600459 single base substitution A T intron_variant OV-AU 9 17600563 17600563 single base substitution C T intron_variant OV-AU 9 17600567 17600567 single base substitution T C intron_variant OV-AU 9 17605146 17605146 single base substitution G T intron_variant OV-AU 9 17605871 17605871 single base substitution T A intron_variant OV-AU 9 17612036 17612036 single base substitution A C intron_variant OV-AU 9 17612037 17612037 single base substitution A C intron_variant OV-AU 9 17612039 17612039 single base substitution T C intron_variant OV-AU 9 17621970 17621970 single base substitution C T intron_variant OV-AU 9 17626402 17626402 single base substitution A C intron_variant OV-AU 9 17628224 17628224 single base substitution G A intron_variant OV-AU 9 17629995 17629995 single base substitution G A intron_variant OV-AU 9 17634837 17634837 single base substitution T C downstream_gene_variant OV-AU 9 17634837 17634837 single base substitution T C intron_variant OV-AU 9 17639546 17639546 single base substitution C T intron_variant OV-AU 9 17642477 17642477 single base substitution G T intron_variant OV-AU 9 17645739 17645739 single base substitution G A intron_variant OV-AU 9 17651188 17651188 single base substitution C G intron_variant OV-AU 9 17651343 17651343 single base substitution T G intron_variant OV-AU 9 17658232 17658232 single base substitution G A intron_variant OV-AU 9 17659237 17659237 single base substitution C T intron_variant OV-AU 9 17659331 17659331 single base substitution G C intron_variant OV-AU 9 17659423 17659423 single base substitution G A intron_variant OV-AU 9 17659977 17659977 single base substitution G A intron_variant OV-AU 9 17660991 17660991 single base substitution C A intron_variant OV-AU 9 17663718 17663718 single base substitution G T intron_variant OV-AU 9 17664197 17664197 single base substitution A G intron_variant OV-AU 9 17665414 17665414 single base substitution A G intron_variant OV-AU 9 17681226 17681226 single base substitution G T intron_variant OV-AU 9 17683640 17683640 single base substitution G C intron_variant OV-AU 9 17687992 17687992 single base substitution A G intron_variant OV-AU 9 17690830 17690830 single base substitution C T intron_variant OV-AU 9 17691195 17691195 single base substitution A G intron_variant OV-AU 9 17698124 17698124 single base substitution T C intron_variant OV-AU 9 17701163 17701163 single base substitution G T intron_variant OV-AU 9 17701983 17701983 single base substitution G A intron_variant OV-AU 9 17711338 17711338 single base substitution A G intron_variant OV-AU 9 17716853 17716853 single base substitution T G intron_variant OV-AU 9 17718984 17718984 single base substitution A T intron_variant OV-AU 9 17722655 17722655 single base substitution A T intron_variant OV-AU 9 17722723 17722723 single base substitution C A intron_variant OV-AU 9 17725144 17725144 single base substitution G T intron_variant OV-AU 9 17727249 17727249 single base substitution T C intron_variant OV-AU 9 17731041 17731041 single base substitution C T intron_variant OV-AU 9 17731041 17731041 single base substitution C T upstream_gene_variant OV-AU 9 17731260 17731260 single base substitution C G intron_variant OV-AU 9 17731260 17731260 single base substitution C G upstream_gene_variant OV-AU 9 17731316 17731316 single base substitution G A intron_variant OV-AU 9 17731316 17731316 single base substitution G A upstream_gene_variant OV-AU 9 17735008 17735008 single base substitution C A intron_variant OV-AU 9 17735008 17735008 single base substitution C A upstream_gene_variant OV-AU 9 17737695 17737695 single base substitution G A intron_variant OV-AU 9 17738165 17738165 single base substitution T A intron_variant OV-AU 9 17741501 17741501 single base substitution G A intron_variant OV-AU 9 17746276 17746276 single base substitution G A intron_variant OV-AU 9 17746302 17746302 single base substitution C G intron_variant OV-AU 9 17749173 17749173 single base substitution A G intron_variant OV-AU 9 17758414 17758414 single base substitution G T intron_variant OV-AU 9 17758430 17758430 single base substitution C T intron_variant OV-AU 9 17762676 17762676 single base substitution C G intron_variant OV-AU 9 17763498 17763498 single base substitution T C intron_variant OV-AU 9 17766940 17766940 single base substitution T A intron_variant OV-AU 9 17776009 17776009 single base substitution A C intron_variant OV-AU 9 17778902 17778902 single base substitution G A intron_variant OV-AU 9 17779541 17779541 single base substitution A T intron_variant OV-AU 9 17786250 17786250 single base substitution G T intron_variant OV-AU 9 17789356 17789356 single base substitution T A intron_variant OV-AU 9 17790474 17790474 single base substitution T C intron_variant OV-AU 9 17791428 17791428 single base substitution G A intron_variant OV-AU 9 17792162 17792162 single base substitution C T intron_variant OV-AU 9 17793186 17793186 single base substitution C A intron_variant OV-AU 9 17797416 17797416 single base substitution G A downstream_gene_variant OV-AU 9 17801664 17801664 single base substitution T A downstream_gene_variant PACA-AU 9 17577627 17577627 single base substitution C T upstream_gene_variant PACA-AU 9 17579107 17579107 single base substitution G A exon_variant PACA-AU 9 17579107 17579107 single base substitution G A upstream_gene_variant PACA-AU 9 17581040 17581040 single base substitution T C intron_variant PACA-AU 9 17596126 17596126 single base substitution G T intron_variant PACA-AU 9 17597093 17597093 single base substitution A T intron_variant PACA-AU 9 17599237 17599237 single base substitution C T intron_variant PACA-AU 9 17601480 17601480 single base substitution C T intron_variant PACA-AU 9 17602876 17602876 insertion of <=200bp - A intron_variant PACA-AU 9 17604778 17604778 single base substitution G T intron_variant PACA-AU 9 17604838 17604838 single base substitution G A intron_variant PACA-AU 9 17605562 17605562 single base substitution A C intron_variant PACA-AU 9 17607781 17607781 single base substitution G T intron_variant PACA-AU 9 17611171 17611171 single base substitution G T intron_variant PACA-AU 9 17613964 17613964 single base substitution G A intron_variant PACA-AU 9 17614303 17614303 single base substitution A G intron_variant PACA-AU 9 17615513 17615513 single base substitution C T intron_variant PACA-AU 9 17615717 17615717 single base substitution T G intron_variant PACA-AU 9 17615769 17615769 single base substitution C A intron_variant PACA-AU 9 17616245 17616245 single base substitution A T intron_variant PACA-AU 9 17616381 17616381 single base substitution C T intron_variant PACA-AU 9 17623440 17623440 single base substitution C T intron_variant PACA-AU 9 17624234 17624234 single base substitution C T intron_variant PACA-AU 9 17626734 17626734 single base substitution G A intron_variant PACA-AU 9 17629805 17629805 single base substitution G T intron_variant PACA-AU 9 17634399 17634399 single base substitution C A downstream_gene_variant PACA-AU 9 17634399 17634399 single base substitution C A intron_variant PACA-AU 9 17636833 17636833 single base substitution A T intron_variant PACA-AU 9 17638823 17638823 single base substitution C A intron_variant PACA-AU 9 17640065 17640065 single base substitution G A intron_variant PACA-AU 9 17640897 17640897 single base substitution A T intron_variant PACA-AU 9 17641978 17641978 single base substitution G C intron_variant PACA-AU 9 17642126 17642126 single base substitution C A intron_variant PACA-AU 9 17642668 17642668 single base substitution C T intron_variant PACA-AU 9 17644095 17644095 single base substitution C T intron_variant PACA-AU 9 17644239 17644239 single base substitution T A intron_variant PACA-AU 9 17648314 17648314 single base substitution A G intron_variant PACA-AU 9 17648907 17648907 single base substitution C G intron_variant PACA-AU 9 17651936 17651936 single base substitution C T intron_variant PACA-AU 9 17655271 17655271 single base substitution A G intron_variant PACA-AU 9 17655859 17655859 single base substitution C A intron_variant PACA-AU 9 17661849 17661849 single base substitution A T intron_variant PACA-AU 9 17662953 17662953 single base substitution C T intron_variant PACA-AU 9 17665441 17665441 single base substitution T A intron_variant PACA-AU 9 17671723 17671723 single base substitution C G intron_variant PACA-AU 9 17673145 17673145 single base substitution T G intron_variant PACA-AU 9 17674279 17674279 single base substitution T A intron_variant PACA-AU 9 17676892 17676892 single base substitution A T intron_variant PACA-AU 9 17677511 17677511 single base substitution C A intron_variant PACA-AU 9 17678320 17678320 single base substitution C T intron_variant PACA-AU 9 17678523 17678523 single base substitution A C intron_variant PACA-AU 9 17679147 17679147 deletion of <=200bp T - intron_variant PACA-AU 9 17680486 17680486 deletion of <=200bp T - intron_variant PACA-AU 9 17681333 17681333 single base substitution C T intron_variant PACA-AU 9 17681425 17681425 single base substitution A C intron_variant PACA-AU 9 17682030 17682030 single base substitution C T intron_variant PACA-AU 9 17685327 17685327 single base substitution T C intron_variant PACA-AU 9 17688859 17688859 single base substitution C A intron_variant PACA-AU 9 17689424 17689424 single base substitution G T intron_variant PACA-AU 9 17689608 17689608 single base substitution C T intron_variant PACA-AU 9 17690593 17690593 single base substitution G A intron_variant PACA-AU 9 17691774 17691774 single base substitution T A intron_variant PACA-AU 9 17691835 17691835 single base substitution C T intron_variant PACA-AU 9 17691974 17691974 single base substitution T A intron_variant PACA-AU 9 17700079 17700079 single base substitution C A intron_variant PACA-AU 9 17700700 17700700 single base substitution G T intron_variant PACA-AU 9 17700862 17700862 single base substitution A G intron_variant PACA-AU 9 17702871 17702871 single base substitution C A intron_variant PACA-AU 9 17703830 17703830 single base substitution C T intron_variant PACA-AU 9 17705185 17705185 single base substitution A G intron_variant PACA-AU 9 17714531 17714531 single base substitution C T intron_variant PACA-AU 9 17715452 17715452 single base substitution G C intron_variant PACA-AU 9 17717116 17717116 single base substitution C T intron_variant PACA-AU 9 17719641 17719641 single base substitution T A intron_variant PACA-AU 9 17720195 17720195 single base substitution C A intron_variant PACA-AU 9 17721313 17721313 single base substitution G A intron_variant PACA-AU 9 17721399 17721399 single base substitution T A intron_variant PACA-AU 9 17722168 17722168 single base substitution A T intron_variant PACA-AU 9 17722482 17722482 single base substitution C T intron_variant PACA-AU 9 17723065 17723065 single base substitution G T intron_variant PACA-AU 9 17724739 17724739 single base substitution G T intron_variant PACA-AU 9 17728010 17728010 single base substitution G A intron_variant PACA-AU 9 17732830 17732830 single base substitution T A intron_variant PACA-AU 9 17732830 17732830 single base substitution T A upstream_gene_variant PACA-AU 9 17734051 17734051 single base substitution G A intron_variant PACA-AU 9 17734051 17734051 single base substitution G A upstream_gene_variant PACA-AU 9 17736891 17736891 single base substitution A T intron_variant PACA-AU 9 17741037 17741037 single base substitution C T intron_variant PACA-AU 9 17742591 17742591 single base substitution C G intron_variant PACA-AU 9 17745508 17745508 single base substitution G A intron_variant PACA-AU 9 17746696 17746696 single base substitution C A intron_variant PACA-AU 9 17747914 17747914 single base substitution C T intron_variant PACA-AU 9 17748796 17748796 single base substitution A C intron_variant PACA-AU 9 17749858 17749858 single base substitution T C intron_variant PACA-AU 9 17752261 17752261 single base substitution C A intron_variant PACA-AU 9 17753307 17753307 single base substitution A G intron_variant PACA-AU 9 17754126 17754126 single base substitution G A intron_variant PACA-AU 9 17754264 17754264 single base substitution G C intron_variant PACA-AU 9 17755808 17755808 single base substitution C T 5_prime_UTR_variant PACA-AU 9 17755808 17755808 single base substitution C T intron_variant PACA-AU 9 17757583 17757583 single base substitution G T intron_variant PACA-AU 9 17759286 17759286 single base substitution G C intron_variant PACA-AU 9 17759802 17759802 single base substitution G T intron_variant PACA-AU 9 17760896 17760896 single base substitution A C intron_variant PACA-AU 9 17761221 17761221 single base substitution C A intron_variant PACA-AU 9 17771450 17771450 single base substitution G A intron_variant PACA-AU 9 17772602 17772602 single base substitution T C intron_variant PACA-AU 9 17772703 17772703 single base substitution T C intron_variant PACA-AU 9 17773915 17773915 single base substitution C T intron_variant PACA-AU 9 17776402 17776402 single base substitution G C intron_variant PACA-AU 9 17778955 17778955 single base substitution A C intron_variant PACA-AU 9 17782034 17782034 single base substitution G T intron_variant PACA-AU 9 17782116 17782116 single base substitution G A intron_variant PACA-AU 9 17792411 17792411 single base substitution C A intron_variant PACA-AU 9 17793142 17793142 insertion of <=200bp - GA intron_variant PACA-CA 9 17575081 17575081 insertion of <=200bp - ATTCATTT upstream_gene_variant PACA-CA 9 17576917 17576917 single base substitution C A upstream_gene_variant PACA-CA 9 17577356 17577356 single base substitution T C upstream_gene_variant PACA-CA 9 17578310 17578310 single base substitution T C upstream_gene_variant PACA-CA 9 17579429 17579429 single base substitution G A intron_variant PACA-CA 9 17585419 17585419 single base substitution G A intron_variant PACA-CA 9 17589933 17589933 single base substitution C T intron_variant PACA-CA 9 17591170 17591170 single base substitution G C intron_variant PACA-CA 9 17592867 17592867 single base substitution G C intron_variant PACA-CA 9 17592980 17592980 single base substitution A T intron_variant PACA-CA 9 17593340 17593340 single base substitution C T intron_variant PACA-CA 9 17593535 17593535 single base substitution C T intron_variant PACA-CA 9 17595579 17595579 single base substitution C T intron_variant PACA-CA 9 17595888 17595888 insertion of <=200bp - T intron_variant PACA-CA 9 17596806 17596806 single base substitution G T intron_variant PACA-CA 9 17599445 17599445 single base substitution C G intron_variant PACA-CA 9 17600277 17600277 single base substitution A G intron_variant PACA-CA 9 17600340 17600340 deletion of <=200bp A - intron_variant PACA-CA 9 17600519 17600519 single base substitution C A intron_variant PACA-CA 9 17600602 17600602 single base substitution T C intron_variant PACA-CA 9 17601187 17601187 single base substitution T C intron_variant PACA-CA 9 17601233 17601233 single base substitution T C intron_variant PACA-CA 9 17606203 17606203 single base substitution G T intron_variant PACA-CA 9 17607004 17607004 deletion of <=200bp T - intron_variant PACA-CA 9 17607574 17607574 single base substitution G A intron_variant PACA-CA 9 17609031 17609031 single base substitution G A intron_variant PACA-CA 9 17609832 17609832 deletion of <=200bp G - intron_variant PACA-CA 9 17611287 17611287 single base substitution C T intron_variant PACA-CA 9 17612409 17612420 deletion of <=200bp ATCTCAGACCCT - intron_variant PACA-CA 9 17614067 17614067 single base substitution A G intron_variant PACA-CA 9 17614216 17614216 single base substitution C T intron_variant PACA-CA 9 17615436 17615436 single base substitution C T intron_variant PACA-CA 9 17617723 17617723 single base substitution T G intron_variant PACA-CA 9 17618717 17618717 single base substitution T C intron_variant PACA-CA 9 17620989 17620989 single base substitution G A intron_variant PACA-CA 9 17621354 17621354 single base substitution C T intron_variant PACA-CA 9 17626817 17626817 single base substitution G A intron_variant PACA-CA 9 17627144 17627144 single base substitution G A intron_variant PACA-CA 9 17627174 17627174 single base substitution C T intron_variant PACA-CA 9 17629036 17629036 single base substitution T C intron_variant PACA-CA 9 17629393 17629393 single base substitution T C intron_variant PACA-CA 9 17629803 17629803 single base substitution G T intron_variant PACA-CA 9 17631474 17631474 single base substitution C A downstream_gene_variant PACA-CA 9 17631474 17631474 single base substitution C A intron_variant PACA-CA 9 17632121 17632121 single base substitution A G downstream_gene_variant PACA-CA 9 17632121 17632121 single base substitution A G intron_variant PACA-CA 9 17634869 17634869 single base substitution A C downstream_gene_variant PACA-CA 9 17634869 17634869 single base substitution A C intron_variant PACA-CA 9 17634949 17634949 single base substitution A G downstream_gene_variant PACA-CA 9 17634949 17634949 single base substitution A G intron_variant PACA-CA 9 17640457 17640457 insertion of <=200bp - T intron_variant PACA-CA 9 17640819 17640819 single base substitution A G intron_variant PACA-CA 9 17642132 17642164 deletion of <=200bp TTTATTGGCTGCATAAATGGCTTCTCTTGAAAA - intron_variant PACA-CA 9 17642490 17642490 single base substitution C T intron_variant PACA-CA 9 17643441 17643441 single base substitution T C intron_variant PACA-CA 9 17644202 17644202 deletion of <=200bp T - intron_variant PACA-CA 9 17644768 17644768 single base substitution G A intron_variant PACA-CA 9 17644978 17644978 single base substitution G C intron_variant PACA-CA 9 17645055 17645055 single base substitution G C intron_variant PACA-CA 9 17645096 17645096 single base substitution G A intron_variant PACA-CA 9 17645223 17645223 single base substitution G C intron_variant PACA-CA 9 17645275 17645275 single base substitution G A intron_variant PACA-CA 9 17645329 17645329 single base substitution C G intron_variant PACA-CA 9 17645400 17645400 single base substitution G T intron_variant PACA-CA 9 17645414 17645414 single base substitution G C intron_variant PACA-CA 9 17645598 17645598 single base substitution G T intron_variant PACA-CA 9 17646365 17646365 single base substitution T C intron_variant PACA-CA 9 17646712 17646712 single base substitution G A intron_variant PACA-CA 9 17647094 17647094 single base substitution C A intron_variant PACA-CA 9 17649230 17649230 insertion of <=200bp - T intron_variant PACA-CA 9 17650951 17650951 single base substitution C A intron_variant PACA-CA 9 17651034 17651034 single base substitution T A intron_variant PACA-CA 9 17652385 17652385 single base substitution T G intron_variant PACA-CA 9 17652399 17652399 single base substitution C G intron_variant PACA-CA 9 17652400 17652400 single base substitution C G intron_variant PACA-CA 9 17652419 17652419 single base substitution G A intron_variant PACA-CA 9 17653726 17653726 single base substitution T A intron_variant PACA-CA 9 17654042 17654042 single base substitution A G intron_variant PACA-CA 9 17654235 17654235 single base substitution A T intron_variant PACA-CA 9 17654647 17654647 deletion of <=200bp A - intron_variant PACA-CA 9 17655628 17655628 single base substitution A T intron_variant PACA-CA 9 17656128 17656128 single base substitution C A intron_variant PACA-CA 9 17658911 17658911 single base substitution T G intron_variant PACA-CA 9 17658999 17658999 single base substitution G T intron_variant PACA-CA 9 17660389 17660389 single base substitution C T intron_variant PACA-CA 9 17660991 17660991 single base substitution C A intron_variant PACA-CA 9 17661685 17661685 insertion of <=200bp - T intron_variant PACA-CA 9 17662867 17662867 single base substitution C T intron_variant PACA-CA 9 17665393 17665393 single base substitution C T intron_variant PACA-CA 9 17666574 17666574 insertion of <=200bp - TA intron_variant PACA-CA 9 17673387 17673387 single base substitution C T intron_variant PACA-CA 9 17674479 17674479 single base substitution G A intron_variant PACA-CA 9 17677065 17677065 single base substitution T C intron_variant PACA-CA 9 17678445 17678445 single base substitution C A intron_variant PACA-CA 9 17680728 17680728 single base substitution A T intron_variant PACA-CA 9 17680738 17680738 single base substitution C T intron_variant PACA-CA 9 17680775 17680775 single base substitution A G intron_variant PACA-CA 9 17681297 17681297 single base substitution A G intron_variant PACA-CA 9 17681812 17681812 single base substitution G T intron_variant PACA-CA 9 17682272 17682272 single base substitution G A intron_variant PACA-CA 9 17682726 17682726 single base substitution T G intron_variant PACA-CA 9 17684125 17684125 single base substitution G C intron_variant PACA-CA 9 17687245 17687245 single base substitution T C intron_variant PACA-CA 9 17687498 17687498 insertion of <=200bp - A intron_variant PACA-CA 9 17688390 17688390 single base substitution G A intron_variant PACA-CA 9 17688475 17688475 insertion of <=200bp - A intron_variant PACA-CA 9 17689140 17689140 deletion of <=200bp A - intron_variant PACA-CA 9 17693673 17693673 single base substitution T A intron_variant PACA-CA 9 17695503 17695503 single base substitution G C intron_variant PACA-CA 9 17697510 17697510 single base substitution G A intron_variant PACA-CA 9 17698402 17698402 single base substitution G A intron_variant PACA-CA 9 17701196 17701196 single base substitution C T intron_variant PACA-CA 9 17701585 17701585 single base substitution C G intron_variant PACA-CA 9 17701761 17701761 deletion of <=200bp A - intron_variant PACA-CA 9 17702817 17702817 single base substitution G C intron_variant PACA-CA 9 17705456 17705456 single base substitution A C intron_variant PACA-CA 9 17708369 17708369 single base substitution G A intron_variant PACA-CA 9 17708563 17708563 single base substitution G A intron_variant PACA-CA 9 17709147 17709147 single base substitution C T intron_variant PACA-CA 9 17709911 17709911 single base substitution G C intron_variant PACA-CA 9 17714048 17714048 single base substitution G A intron_variant PACA-CA 9 17717140 17717140 single base substitution A G intron_variant PACA-CA 9 17719926 17719926 insertion of <=200bp - T intron_variant PACA-CA 9 17721178 17721178 single base substitution A G intron_variant PACA-CA 9 17721223 17721223 single base substitution G A intron_variant PACA-CA 9 17724936 17724936 single base substitution C T intron_variant PACA-CA 9 17728369 17728369 single base substitution A G intron_variant PACA-CA 9 17728630 17728630 single base substitution C T intron_variant PACA-CA 9 17728881 17728881 single base substitution C A intron_variant PACA-CA 9 17731065 17731065 single base substitution G C intron_variant PACA-CA 9 17731065 17731065 single base substitution G C upstream_gene_variant PACA-CA 9 17731380 17731380 single base substitution G T intron_variant PACA-CA 9 17731380 17731380 single base substitution G T upstream_gene_variant PACA-CA 9 17731693 17731715 deletion of <=200bp GATAGACTCCCTCATCGCTGTTA - intron_variant PACA-CA 9 17731693 17731715 deletion of <=200bp GATAGACTCCCTCATCGCTGTTA - upstream_gene_variant PACA-CA 9 17732788 17732788 single base substitution T C intron_variant PACA-CA 9 17732788 17732788 single base substitution T C upstream_gene_variant PACA-CA 9 17734109 17734109 single base substitution C T intron_variant PACA-CA 9 17734109 17734109 single base substitution C T upstream_gene_variant PACA-CA 9 17734266 17734266 single base substitution G T intron_variant PACA-CA 9 17734266 17734266 single base substitution G T upstream_gene_variant PACA-CA 9 17734342 17734342 single base substitution A C intron_variant PACA-CA 9 17734342 17734342 single base substitution A C upstream_gene_variant PACA-CA 9 17736464 17736464 single base substitution C A intron_variant PACA-CA 9 17737488 17737488 single base substitution A T intron_variant PACA-CA 9 17737781 17737781 single base substitution C A intron_variant PACA-CA 9 17738493 17738493 single base substitution T C intron_variant PACA-CA 9 17738512 17738512 insertion of <=200bp - TG intron_variant PACA-CA 9 17739007 17739007 single base substitution G A intron_variant PACA-CA 9 17739660 17739660 single base substitution C A intron_variant PACA-CA 9 17740451 17740451 single base substitution G T intron_variant PACA-CA 9 17743189 17743189 single base substitution G A intron_variant PACA-CA 9 17743923 17743923 single base substitution T G intron_variant PACA-CA 9 17744111 17744111 single base substitution G A intron_variant PACA-CA 9 17744568 17744568 single base substitution T G intron_variant PACA-CA 9 17745356 17745356 single base substitution T C intron_variant PACA-CA 9 17745656 17745656 single base substitution C T intron_variant PACA-CA 9 17746158 17746158 single base substitution C T intron_variant PACA-CA 9 17751852 17751852 deletion of <=200bp C - intron_variant PACA-CA 9 17752756 17752756 single base substitution A T intron_variant PACA-CA 9 17753146 17753146 single base substitution G A intron_variant PACA-CA 9 17756774 17756774 single base substitution C G intron_variant PACA-CA 9 17757314 17757314 single base substitution A C intron_variant PACA-CA 9 17757441 17757441 single base substitution G T intron_variant PACA-CA 9 17761294 17761294 single base substitution G A intron_variant PACA-CA 9 17765672 17765672 single base substitution C T intron_variant PACA-CA 9 17766751 17766751 single base substitution G C intron_variant PACA-CA 9 17767747 17767747 single base substitution T C intron_variant PACA-CA 9 17768660 17768660 single base substitution G A intron_variant PACA-CA 9 17769095 17769095 single base substitution C A intron_variant PACA-CA 9 17770407 17770407 single base substitution A T intron_variant PACA-CA 9 17771602 17771602 deletion of <=200bp T - intron_variant PACA-CA 9 17772244 17772244 single base substitution G C intron_variant PACA-CA 9 17772485 17772485 single base substitution G T intron_variant PACA-CA 9 17774726 17774726 single base substitution C T intron_variant PACA-CA 9 17774777 17774777 single base substitution C T intron_variant PACA-CA 9 17774829 17774829 insertion of <=200bp - T intron_variant PACA-CA 9 17775125 17775125 single base substitution C T intron_variant PACA-CA 9 17775961 17775961 single base substitution G T intron_variant PACA-CA 9 17776491 17776491 single base substitution A G intron_variant PACA-CA 9 17777997 17777997 single base substitution T C intron_variant PACA-CA 9 17778960 17778960 single base substitution G C intron_variant PACA-CA 9 17779258 17779258 single base substitution G C intron_variant PACA-CA 9 17784280 17784280 single base substitution G C intron_variant PACA-CA 9 17784584 17784584 single base substitution T C intron_variant PACA-CA 9 17788100 17788100 deletion of <=200bp T - intron_variant PACA-CA 9 17792420 17792420 single base substitution G A intron_variant PACA-CA 9 17793046 17793046 single base substitution G T intron_variant PACA-CA 9 17793850 17793850 single base substitution C T intron_variant PACA-CA 9 17794508 17794508 single base substitution G A intron_variant PACA-CA 9 17795476 17795483 deletion of <=200bp GATTCTGT - intron_variant PACA-CA 9 17799711 17799711 single base substitution T G downstream_gene_variant PACA-CA 9 17799729 17799729 single base substitution C T downstream_gene_variant PAEN-AU 9 17577256 17577256 single base substitution C T upstream_gene_variant PAEN-AU 9 17584782 17584782 deletion of <=200bp G - intron_variant PAEN-AU 9 17598720 17598720 single base substitution G A intron_variant PAEN-AU 9 17602242 17602242 single base substitution T G intron_variant PAEN-AU 9 17648166 17648166 single base substitution G A intron_variant PAEN-AU 9 17713132 17713132 single base substitution G A intron_variant PAEN-AU 9 17744812 17744812 single base substitution A C intron_variant PAEN-AU 9 17760236 17760236 single base substitution A G intron_variant PAEN-AU 9 17767363 17767363 single base substitution G T intron_variant PAEN-AU 9 17792076 17792076 deletion of <=200bp C - intron_variant PAEN-AU 9 17792080 17792080 single base substitution T G intron_variant PAEN-AU 9 17793457 17793457 single base substitution A G missense_variant N227S 680A>G PAEN-AU 9 17793457 17793457 single base substitution A G missense_variant N274S 821A>G PAEN-IT 9 17593390 17593390 single base substitution T C intron_variant PAEN-IT 9 17655868 17655868 single base substitution G A intron_variant PAEN-IT 9 17667914 17667914 single base substitution A G intron_variant PAEN-IT 9 17677035 17677035 single base substitution C T intron_variant PAEN-IT 9 17719658 17719658 single base substitution G A intron_variant PBCA-DE 9 17592734 17592734 insertion of <=200bp - A intron_variant PBCA-DE 9 17597515 17597515 insertion of <=200bp - A intron_variant PBCA-DE 9 17616737 17616737 deletion of <=200bp T - intron_variant PBCA-DE 9 17628050 17628050 insertion of <=200bp - T intron_variant PBCA-DE 9 17641846 17641846 single base substitution C T intron_variant PBCA-DE 9 17648246 17648246 single base substitution A T intron_variant PBCA-DE 9 17650725 17650725 single base substitution C T intron_variant PBCA-DE 9 17653487 17653487 single base substitution G T intron_variant PBCA-DE 9 17657685 17657685 single base substitution A T intron_variant PBCA-DE 9 17659443 17659444 deletion of <=200bp GT - intron_variant PBCA-DE 9 17671640 17671640 single base substitution T A intron_variant PBCA-DE 9 17687512 17687512 single base substitution A G intron_variant PBCA-DE 9 17704888 17704888 single base substitution C T intron_variant PBCA-DE 9 17705049 17705049 deletion of <=200bp A - intron_variant PBCA-DE 9 17709771 17709771 single base substitution T C intron_variant PBCA-DE 9 17713072 17713072 insertion of <=200bp - T intron_variant PBCA-DE 9 17715397 17715397 deletion of <=200bp T - intron_variant PBCA-DE 9 17729599 17729599 single base substitution G A intron_variant PBCA-DE 9 17731104 17731104 single base substitution A G intron_variant PBCA-DE 9 17731104 17731104 single base substitution A G upstream_gene_variant PBCA-DE 9 17735291 17735291 single base substitution G C intron_variant PBCA-DE 9 17735291 17735291 single base substitution G C upstream_gene_variant PBCA-DE 9 17738513 17738513 insertion of <=200bp - TG intron_variant PBCA-DE 9 17738543 17738543 single base substitution A T intron_variant PBCA-DE 9 17739929 17739929 single base substitution C T intron_variant PBCA-DE 9 17749264 17749264 single base substitution A G intron_variant PBCA-DE 9 17753597 17753597 deletion of <=200bp A - intron_variant PBCA-DE 9 17759891 17759891 insertion of <=200bp - TGGG intron_variant PBCA-DE 9 17791841 17791841 single base substitution C T intron_variant PRAD-CA 9 17618895 17618895 single base substitution C T intron_variant PRAD-CA 9 17623009 17623009 single base substitution C G intron_variant PRAD-CA 9 17623054 17623054 single base substitution C T intron_variant PRAD-CA 9 17638760 17638760 single base substitution C T intron_variant PRAD-CA 9 17647427 17647427 single base substitution G C intron_variant PRAD-CA 9 17660078 17660078 single base substitution G T intron_variant PRAD-CA 9 17664084 17664084 single base substitution A T intron_variant PRAD-CA 9 17705638 17705638 single base substitution A T intron_variant PRAD-CA 9 17712995 17712995 single base substitution T A intron_variant PRAD-CA 9 17730286 17730286 single base substitution G A intron_variant PRAD-CA 9 17732268 17732268 single base substitution T G intron_variant PRAD-CA 9 17732268 17732268 single base substitution T G upstream_gene_variant PRAD-CA 9 17736887 17736887 single base substitution A G intron_variant PRAD-CA 9 17747362 17747362 single base substitution G A intron_variant PRAD-CA 9 17764638 17764638 single base substitution T C intron_variant PRAD-CA 9 17765447 17765447 single base substitution A G intron_variant PRAD-CA 9 17769725 17769725 single base substitution C A intron_variant PRAD-CA 9 17782771 17782771 single base substitution A G intron_variant PRAD-CA 9 17784799 17784799 single base substitution C G intron_variant PRAD-CA 9 17786156 17786156 single base substitution G T intron_variant PRAD-UK 9 17575292 17575292 single base substitution C T upstream_gene_variant PRAD-UK 9 17576079 17576079 single base substitution T C upstream_gene_variant PRAD-UK 9 17579018 17579018 single base substitution G C upstream_gene_variant PRAD-UK 9 17584635 17584635 single base substitution G T intron_variant PRAD-UK 9 17602049 17602049 single base substitution G T intron_variant PRAD-UK 9 17603207 17603207 single base substitution C T intron_variant PRAD-UK 9 17613634 17613634 single base substitution G T intron_variant PRAD-UK 9 17614455 17614455 single base substitution G A intron_variant PRAD-UK 9 17618694 17618694 single base substitution A T intron_variant PRAD-UK 9 17620030 17620030 insertion of <=200bp - T intron_variant PRAD-UK 9 17620711 17620711 single base substitution G T intron_variant PRAD-UK 9 17640739 17640739 single base substitution T A intron_variant PRAD-UK 9 17647248 17647248 single base substitution T G intron_variant PRAD-UK 9 17649867 17649867 insertion of <=200bp - A intron_variant PRAD-UK 9 17649872 17649872 insertion of <=200bp - A intron_variant PRAD-UK 9 17653200 17653200 single base substitution A G intron_variant PRAD-UK 9 17654141 17654141 single base substitution C A intron_variant PRAD-UK 9 17658352 17658352 single base substitution G A intron_variant PRAD-UK 9 17660935 17660935 single base substitution G A intron_variant PRAD-UK 9 17663675 17663675 single base substitution G T intron_variant PRAD-UK 9 17664916 17664916 single base substitution T A intron_variant PRAD-UK 9 17665522 17665522 single base substitution A T intron_variant PRAD-UK 9 17680089 17680089 insertion of <=200bp - T intron_variant PRAD-UK 9 17689732 17689732 single base substitution G A intron_variant PRAD-UK 9 17692019 17692019 single base substitution T G intron_variant PRAD-UK 9 17694463 17694463 single base substitution C T intron_variant PRAD-UK 9 17695830 17695830 single base substitution G T intron_variant PRAD-UK 9 17699121 17699121 single base substitution C A intron_variant PRAD-UK 9 17712399 17712399 single base substitution A G intron_variant PRAD-UK 9 17715714 17715714 single base substitution G A intron_variant PRAD-UK 9 17717038 17717038 single base substitution G A intron_variant PRAD-UK 9 17730421 17730421 single base substitution G A intron_variant PRAD-UK 9 17741356 17741356 single base substitution G A intron_variant PRAD-UK 9 17744853 17744853 single base substitution C A intron_variant PRAD-UK 9 17750887 17750887 single base substitution G A intron_variant PRAD-UK 9 17758419 17758419 single base substitution G A intron_variant PRAD-UK 9 17761380 17761380 single base substitution G A intron_variant PRAD-UK 9 17767513 17767513 single base substitution C T intron_variant PRAD-UK 9 17770680 17770680 single base substitution G C intron_variant PRAD-UK 9 17776382 17776382 single base substitution G A intron_variant PRAD-UK 9 17780477 17780477 single base substitution T A intron_variant PRAD-UK 9 17789810 17789810 single base substitution G C intron_variant PRAD-US 9 17791307 17791307 single base substitution C T stop_gained Q188* 562C>T PRAD-US 9 17791307 17791307 single base substitution C T stop_gained Q235* 703C>T READ-US 9 17789417 17789417 single base substitution C T missense_variant R118C 352C>T READ-US 9 17789417 17789417 single base substitution C T missense_variant R165C 493C>T RECA-EU 9 17581800 17581800 single base substitution G A intron_variant RECA-EU 9 17586699 17586699 single base substitution G A intron_variant RECA-EU 9 17594407 17594407 single base substitution T A intron_variant RECA-EU 9 17597309 17597309 single base substitution C A intron_variant RECA-EU 9 17598181 17598181 single base substitution C T intron_variant RECA-EU 9 17603588 17603588 single base substitution G A intron_variant RECA-EU 9 17616225 17616225 single base substitution C T intron_variant RECA-EU 9 17624288 17624288 single base substitution A T intron_variant RECA-EU 9 17628972 17628972 single base substitution A G intron_variant RECA-EU 9 17643626 17643626 single base substitution A G intron_variant RECA-EU 9 17677875 17677875 single base substitution G C intron_variant RECA-EU 9 17682619 17682619 single base substitution A C intron_variant RECA-EU 9 17682620 17682620 single base substitution C A intron_variant RECA-EU 9 17698534 17698534 single base substitution A C intron_variant RECA-EU 9 17703317 17703317 single base substitution C T intron_variant RECA-EU 9 17703670 17703670 single base substitution T A intron_variant RECA-EU 9 17708985 17708985 single base substitution T G intron_variant RECA-EU 9 17711721 17711721 single base substitution A C intron_variant RECA-EU 9 17726903 17726903 single base substitution A T intron_variant RECA-EU 9 17743028 17743028 single base substitution G C intron_variant RECA-EU 9 17752684 17752684 single base substitution T A intron_variant RECA-EU 9 17755760 17755760 single base substitution A G 5_prime_UTR_variant RECA-EU 9 17755760 17755760 single base substitution A G intron_variant RECA-EU 9 17762500 17762500 single base substitution T A intron_variant RECA-EU 9 17764577 17764577 single base substitution A T intron_variant RECA-EU 9 17779474 17779474 single base substitution G A intron_variant RECA-EU 9 17786612 17786612 single base substitution C T intron_variant SKCA-BR 9 17574515 17574515 single base substitution G A upstream_gene_variant SKCA-BR 9 17576340 17576340 single base substitution T C upstream_gene_variant SKCA-BR 9 17576905 17576905 single base substitution G A upstream_gene_variant SKCA-BR 9 17577383 17577383 single base substitution G C upstream_gene_variant SKCA-BR 9 17581565 17581565 single base substitution C T intron_variant SKCA-BR 9 17581570 17581570 single base substitution T G intron_variant SKCA-BR 9 17582930 17582930 single base substitution C T intron_variant SKCA-BR 9 17583741 17583741 single base substitution G T intron_variant SKCA-BR 9 17584717 17584717 single base substitution G A intron_variant SKCA-BR 9 17585373 17585373 single base substitution G A intron_variant SKCA-BR 9 17585740 17585740 single base substitution A G intron_variant SKCA-BR 9 17586513 17586513 single base substitution A G intron_variant SKCA-BR 9 17586757 17586757 single base substitution T C intron_variant SKCA-BR 9 17588012 17588012 single base substitution G A intron_variant SKCA-BR 9 17588959 17588959 single base substitution G A intron_variant SKCA-BR 9 17589988 17589988 single base substitution G A intron_variant SKCA-BR 9 17593442 17593442 single base substitution C T intron_variant SKCA-BR 9 17597240 17597240 single base substitution C T intron_variant SKCA-BR 9 17597514 17597514 insertion of <=200bp - CA intron_variant SKCA-BR 9 17598757 17598757 single base substitution C T intron_variant SKCA-BR 9 17599665 17599665 single base substitution C T intron_variant SKCA-BR 9 17599853 17599853 single base substitution C T intron_variant SKCA-BR 9 17600629 17600629 single base substitution G A intron_variant SKCA-BR 9 17600630 17600630 single base substitution A G intron_variant SKCA-BR 9 17601106 17601106 single base substitution C T intron_variant SKCA-BR 9 17602001 17602001 single base substitution G T intron_variant SKCA-BR 9 17602686 17602686 single base substitution C T intron_variant SKCA-BR 9 17602751 17602751 single base substitution G A intron_variant SKCA-BR 9 17603859 17603859 single base substitution G A intron_variant SKCA-BR 9 17604975 17604977 deletion of <=200bp ATT - intron_variant SKCA-BR 9 17605061 17605061 single base substitution C T intron_variant SKCA-BR 9 17606082 17606082 insertion of <=200bp - GGTTT intron_variant SKCA-BR 9 17607914 17607914 single base substitution A G intron_variant SKCA-BR 9 17608175 17608175 single base substitution T C intron_variant SKCA-BR 9 17608965 17608965 single base substitution C T intron_variant SKCA-BR 9 17610033 17610033 single base substitution C T intron_variant SKCA-BR 9 17610614 17610614 single base substitution A C intron_variant SKCA-BR 9 17612452 17612452 single base substitution A C intron_variant SKCA-BR 9 17613458 17613458 single base substitution C T intron_variant SKCA-BR 9 17614724 17614724 single base substitution C T intron_variant SKCA-BR 9 17615121 17615121 single base substitution G A intron_variant SKCA-BR 9 17615365 17615365 single base substitution C T intron_variant SKCA-BR 9 17616850 17616850 single base substitution T A intron_variant SKCA-BR 9 17617142 17617142 single base substitution C T intron_variant SKCA-BR 9 17617414 17617414 single base substitution G A intron_variant SKCA-BR 9 17618281 17618281 single base substitution G A intron_variant SKCA-BR 9 17619300 17619300 single base substitution C T intron_variant SKCA-BR 9 17622974 17622974 insertion of <=200bp - GTTTCCTTTTGTTTCC intron_variant SKCA-BR 9 17622980 17622980 insertion of <=200bp - TTCCCTTTCCTTTCCTTTCCG intron_variant SKCA-BR 9 17622982 17622982 single base substitution T C intron_variant SKCA-BR 9 17622983 17622983 single base substitution C T intron_variant SKCA-BR 9 17622984 17622984 single base substitution G C intron_variant SKCA-BR 9 17623002 17623043 deletion of <=200bp TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCC - intron_variant SKCA-BR 9 17624189 17624189 single base substitution C T intron_variant SKCA-BR 9 17626137 17626137 single base substitution G A intron_variant SKCA-BR 9 17626318 17626318 single base substitution G A intron_variant SKCA-BR 9 17626700 17626700 single base substitution G A intron_variant SKCA-BR 9 17627115 17627115 single base substitution C T intron_variant SKCA-BR 9 17627703 17627703 single base substitution T C intron_variant SKCA-BR 9 17627742 17627742 single base substitution C A intron_variant SKCA-BR 9 17629046 17629046 single base substitution G A intron_variant SKCA-BR 9 17630996 17630996 single base substitution G A downstream_gene_variant SKCA-BR 9 17630996 17630996 single base substitution G A intron_variant SKCA-BR 9 17631226 17631226 single base substitution G A downstream_gene_variant SKCA-BR 9 17631226 17631226 single base substitution G A intron_variant SKCA-BR 9 17631248 17631248 single base substitution C T downstream_gene_variant SKCA-BR 9 17631248 17631248 single base substitution C T intron_variant SKCA-BR 9 17633269 17633269 single base substitution G A downstream_gene_variant SKCA-BR 9 17633269 17633269 single base substitution G A intron_variant SKCA-BR 9 17634830 17634830 single base substitution C T downstream_gene_variant SKCA-BR 9 17634830 17634830 single base substitution C T intron_variant SKCA-BR 9 17634920 17634920 single base substitution A G downstream_gene_variant SKCA-BR 9 17634920 17634920 single base substitution A G intron_variant SKCA-BR 9 17636577 17636577 single base substitution G A intron_variant SKCA-BR 9 17636696 17636696 single base substitution C T intron_variant SKCA-BR 9 17637698 17637698 single base substitution G A intron_variant SKCA-BR 9 17638030 17638030 single base substitution C T intron_variant SKCA-BR 9 17641626 17641626 single base substitution C T intron_variant SKCA-BR 9 17642299 17642299 single base substitution C T intron_variant SKCA-BR 9 17643427 17643427 single base substitution G A intron_variant SKCA-BR 9 17643969 17643969 single base substitution C T intron_variant SKCA-BR 9 17645987 17645987 single base substitution C T intron_variant SKCA-BR 9 17646064 17646064 single base substitution C T intron_variant SKCA-BR 9 17646455 17646455 single base substitution C T intron_variant SKCA-BR 9 17646821 17646821 single base substitution G A intron_variant SKCA-BR 9 17648261 17648261 single base substitution G A intron_variant SKCA-BR 9 17650609 17650609 single base substitution C T intron_variant SKCA-BR 9 17650837 17650837 single base substitution G A intron_variant SKCA-BR 9 17651077 17651077 single base substitution T A intron_variant SKCA-BR 9 17651090 17651090 single base substitution C T intron_variant SKCA-BR 9 17652432 17652432 single base substitution T C intron_variant SKCA-BR 9 17654146 17654146 single base substitution C T intron_variant SKCA-BR 9 17654221 17654221 single base substitution C T intron_variant SKCA-BR 9 17654355 17654355 single base substitution G A intron_variant SKCA-BR 9 17654722 17654722 single base substitution G A intron_variant SKCA-BR 9 17655073 17655073 single base substitution C G intron_variant SKCA-BR 9 17656093 17656093 single base substitution C T intron_variant SKCA-BR 9 17656875 17656875 single base substitution G A intron_variant SKCA-BR 9 17657680 17657680 single base substitution C T intron_variant SKCA-BR 9 17658243 17658243 single base substitution C T intron_variant SKCA-BR 9 17659488 17659488 single base substitution C T intron_variant SKCA-BR 9 17659734 17659734 single base substitution C T intron_variant SKCA-BR 9 17659884 17659884 single base substitution G A intron_variant SKCA-BR 9 17661135 17661135 single base substitution G A intron_variant SKCA-BR 9 17662701 17662703 deletion of <=200bp CTT - intron_variant SKCA-BR 9 17665831 17665831 single base substitution G A intron_variant SKCA-BR 9 17666574 17666574 single base substitution G A intron_variant SKCA-BR 9 17666576 17666576 insertion of <=200bp - GTGTATA intron_variant SKCA-BR 9 17667328 17667328 single base substitution C T intron_variant SKCA-BR 9 17667349 17667349 single base substitution C T intron_variant SKCA-BR 9 17668236 17668236 single base substitution C T intron_variant SKCA-BR 9 17668650 17668650 insertion of <=200bp - ATTTAT intron_variant SKCA-BR 9 17669388 17669388 single base substitution G A intron_variant SKCA-BR 9 17670018 17670018 single base substitution G A intron_variant SKCA-BR 9 17670333 17670333 single base substitution T C intron_variant SKCA-BR 9 17670637 17670637 single base substitution A G intron_variant SKCA-BR 9 17673089 17673089 single base substitution C T intron_variant SKCA-BR 9 17673105 17673105 single base substitution C T intron_variant SKCA-BR 9 17674439 17674439 single base substitution T A intron_variant SKCA-BR 9 17674809 17674809 single base substitution C T intron_variant SKCA-BR 9 17676279 17676279 single base substitution T G intron_variant SKCA-BR 9 17679235 17679235 single base substitution C T intron_variant SKCA-BR 9 17680388 17680388 single base substitution C T intron_variant SKCA-BR 9 17680902 17680902 single base substitution G A intron_variant SKCA-BR 9 17681455 17681455 single base substitution C A intron_variant SKCA-BR 9 17682111 17682111 single base substitution G T intron_variant SKCA-BR 9 17682399 17682399 single base substitution C T intron_variant SKCA-BR 9 17682588 17682588 single base substitution G A intron_variant SKCA-BR 9 17683469 17683469 single base substitution G A intron_variant SKCA-BR 9 17683495 17683495 single base substitution C G intron_variant SKCA-BR 9 17684761 17684761 single base substitution C G intron_variant SKCA-BR 9 17685057 17685057 single base substitution G A intron_variant SKCA-BR 9 17685271 17685271 single base substitution G A intron_variant SKCA-BR 9 17685643 17685643 single base substitution C T intron_variant SKCA-BR 9 17685840 17685840 single base substitution T C intron_variant SKCA-BR 9 17686012 17686012 single base substitution A C intron_variant SKCA-BR 9 17686281 17686281 single base substitution G A intron_variant SKCA-BR 9 17686292 17686292 single base substitution T G intron_variant SKCA-BR 9 17686510 17686510 single base substitution C T intron_variant SKCA-BR 9 17687643 17687643 single base substitution G A intron_variant SKCA-BR 9 17689087 17689087 single base substitution C T intron_variant SKCA-BR 9 17691123 17691123 single base substitution T G intron_variant SKCA-BR 9 17692150 17692150 single base substitution G A intron_variant SKCA-BR 9 17693354 17693354 single base substitution C T intron_variant SKCA-BR 9 17694262 17694262 single base substitution G A intron_variant SKCA-BR 9 17694401 17694401 single base substitution C T intron_variant SKCA-BR 9 17695214 17695214 single base substitution G A intron_variant SKCA-BR 9 17695620 17695620 single base substitution A T intron_variant SKCA-BR 9 17696671 17696671 single base substitution G A intron_variant SKCA-BR 9 17696734 17696734 single base substitution G A intron_variant SKCA-BR 9 17697225 17697225 insertion of <=200bp - CT intron_variant SKCA-BR 9 17697413 17697413 insertion of <=200bp - GC intron_variant SKCA-BR 9 17697896 17697896 single base substitution G C intron_variant SKCA-BR 9 17699501 17699501 single base substitution G A intron_variant SKCA-BR 9 17702471 17702471 single base substitution G A intron_variant SKCA-BR 9 17703161 17703161 single base substitution C T intron_variant SKCA-BR 9 17703198 17703198 single base substitution G A intron_variant SKCA-BR 9 17704700 17704703 deletion of <=200bp AAAT - intron_variant SKCA-BR 9 17705018 17705018 single base substitution C T intron_variant SKCA-BR 9 17705478 17705478 single base substitution T C intron_variant SKCA-BR 9 17706248 17706248 single base substitution G A intron_variant SKCA-BR 9 17706576 17706576 single base substitution T G intron_variant SKCA-BR 9 17708951 17708951 single base substitution C T intron_variant SKCA-BR 9 17709638 17709640 deletion of <=200bp TTA - intron_variant SKCA-BR 9 17709678 17709678 insertion of <=200bp - TACACAC intron_variant SKCA-BR 9 17711173 17711173 single base substitution A G intron_variant SKCA-BR 9 17712318 17712318 single base substitution C T intron_variant SKCA-BR 9 17713140 17713140 single base substitution C T intron_variant SKCA-BR 9 17713252 17713252 single base substitution C T intron_variant SKCA-BR 9 17713689 17713689 single base substitution C T intron_variant SKCA-BR 9 17714310 17714310 single base substitution G A intron_variant SKCA-BR 9 17715931 17715931 single base substitution G A intron_variant SKCA-BR 9 17717037 17717037 single base substitution C T intron_variant SKCA-BR 9 17718898 17718898 single base substitution G A intron_variant SKCA-BR 9 17719117 17719117 single base substitution G A intron_variant SKCA-BR 9 17721329 17721329 single base substitution G A intron_variant SKCA-BR 9 17722109 17722109 single base substitution G A intron_variant SKCA-BR 9 17724108 17724108 single base substitution G A intron_variant SKCA-BR 9 17724551 17724551 single base substitution C T intron_variant SKCA-BR 9 17725486 17725486 single base substitution C T intron_variant SKCA-BR 9 17726109 17726109 single base substitution T A intron_variant SKCA-BR 9 17729395 17729395 single base substitution C T intron_variant SKCA-BR 9 17730833 17730833 single base substitution C T intron_variant SKCA-BR 9 17730833 17730833 single base substitution C T upstream_gene_variant SKCA-BR 9 17731959 17731959 single base substitution G A intron_variant SKCA-BR 9 17731959 17731959 single base substitution G A upstream_gene_variant SKCA-BR 9 17732928 17732928 single base substitution G A intron_variant SKCA-BR 9 17732928 17732928 single base substitution G A upstream_gene_variant SKCA-BR 9 17733156 17733156 single base substitution C T intron_variant SKCA-BR 9 17733156 17733156 single base substitution C T upstream_gene_variant SKCA-BR 9 17734446 17734446 single base substitution C T intron_variant SKCA-BR 9 17734446 17734446 single base substitution C T upstream_gene_variant SKCA-BR 9 17738512 17738512 insertion of <=200bp - ATG intron_variant SKCA-BR 9 17738535 17738563 deletion of <=200bp TATACATAAGTGTGTGTGTATATACATAC - intron_variant SKCA-BR 9 17738591 17738591 single base substitution G A intron_variant SKCA-BR 9 17738641 17738641 single base substitution G T intron_variant SKCA-BR 9 17738659 17738659 insertion of <=200bp - GAGAC intron_variant SKCA-BR 9 17739097 17739097 single base substitution G A intron_variant SKCA-BR 9 17739622 17739622 insertion of <=200bp - AT intron_variant SKCA-BR 9 17739674 17739674 single base substitution C A intron_variant SKCA-BR 9 17740034 17740034 single base substitution G A intron_variant SKCA-BR 9 17740050 17740050 single base substitution C T intron_variant SKCA-BR 9 17740463 17740463 insertion of <=200bp - AGTATTGTATT intron_variant SKCA-BR 9 17743099 17743099 single base substitution G A intron_variant SKCA-BR 9 17743131 17743131 single base substitution C T intron_variant SKCA-BR 9 17746240 17746240 single base substitution A T intron_variant SKCA-BR 9 17746250 17746250 single base substitution A T intron_variant SKCA-BR 9 17746305 17746305 single base substitution A C intron_variant SKCA-BR 9 17748533 17748533 single base substitution C T intron_variant SKCA-BR 9 17748971 17748971 single base substitution G A intron_variant SKCA-BR 9 17749790 17749790 single base substitution C T intron_variant SKCA-BR 9 17749994 17749994 single base substitution G A intron_variant SKCA-BR 9 17750088 17750088 single base substitution C T intron_variant SKCA-BR 9 17750748 17750748 single base substitution C T intron_variant SKCA-BR 9 17750842 17750842 single base substitution C T intron_variant SKCA-BR 9 17750949 17750949 single base substitution C T intron_variant SKCA-BR 9 17751099 17751099 single base substitution C T intron_variant SKCA-BR 9 17751231 17751231 single base substitution C T intron_variant SKCA-BR 9 17751477 17751477 insertion of <=200bp - CGTGT intron_variant SKCA-BR 9 17752103 17752103 single base substitution T C intron_variant SKCA-BR 9 17755649 17755649 single base substitution C T intron_variant SKCA-BR 9 17756474 17756474 single base substitution T C intron_variant SKCA-BR 9 17756712 17756712 single base substitution C A intron_variant SKCA-BR 9 17757122 17757122 single base substitution C T intron_variant SKCA-BR 9 17759236 17759236 single base substitution C T intron_variant SKCA-BR 9 17759552 17759552 single base substitution C T intron_variant SKCA-BR 9 17759882 17759882 single base substitution A T intron_variant SKCA-BR 9 17761159 17761159 single base substitution C T intron_variant SKCA-BR 9 17761839 17761839 single base substitution T A intron_variant SKCA-BR 9 17762397 17762398 deletion of <=200bp CA - intron_variant SKCA-BR 9 17763588 17763588 single base substitution G A intron_variant SKCA-BR 9 17763712 17763712 single base substitution C T intron_variant SKCA-BR 9 17764309 17764309 single base substitution C T intron_variant SKCA-BR 9 17764717 17764717 single base substitution G C intron_variant SKCA-BR 9 17766201 17766201 single base substitution G A intron_variant SKCA-BR 9 17767651 17767651 single base substitution T C intron_variant SKCA-BR 9 17768479 17768479 single base substitution G A intron_variant SKCA-BR 9 17768669 17768669 single base substitution C T intron_variant SKCA-BR 9 17770442 17770442 single base substitution A T intron_variant SKCA-BR 9 17770676 17770676 single base substitution G A intron_variant SKCA-BR 9 17770861 17770861 single base substitution G A intron_variant SKCA-BR 9 17771272 17771272 single base substitution C T intron_variant SKCA-BR 9 17771649 17771649 single base substitution C G intron_variant SKCA-BR 9 17771888 17771892 deletion of <=200bp TGTAA - intron_variant SKCA-BR 9 17776666 17776666 insertion of <=200bp - CTTT intron_variant SKCA-BR 9 17777673 17777673 single base substitution C T intron_variant SKCA-BR 9 17777903 17777903 single base substitution C T intron_variant SKCA-BR 9 17778118 17778118 single base substitution C T intron_variant SKCA-BR 9 17779087 17779087 single base substitution A G intron_variant SKCA-BR 9 17779357 17779357 single base substitution G A intron_variant SKCA-BR 9 17779836 17779836 single base substitution A G intron_variant SKCA-BR 9 17780072 17780072 single base substitution G A intron_variant SKCA-BR 9 17780480 17780480 single base substitution A T intron_variant SKCA-BR 9 17780776 17780776 single base substitution A G intron_variant SKCA-BR 9 17781245 17781245 single base substitution T C intron_variant SKCA-BR 9 17783219 17783219 single base substitution G A intron_variant SKCA-BR 9 17783543 17783543 single base substitution A T intron_variant SKCA-BR 9 17786258 17786258 single base substitution G A intron_variant SKCA-BR 9 17787050 17787050 single base substitution C G intron_variant SKCA-BR 9 17787266 17787266 single base substitution G A intron_variant SKCA-BR 9 17789161 17789161 single base substitution C T intron_variant SKCA-BR 9 17790251 17790251 single base substitution C T intron_variant SKCA-BR 9 17790345 17790345 single base substitution C T intron_variant SKCA-BR 9 17790795 17790795 single base substitution G T intron_variant SKCA-BR 9 17791124 17791124 single base substitution G T intron_variant SKCA-BR 9 17791176 17791176 single base substitution T G intron_variant SKCA-BR 9 17791917 17791917 single base substitution G A intron_variant SKCA-BR 9 17792457 17792457 single base substitution C T intron_variant SKCA-BR 9 17794155 17794155 single base substitution T C intron_variant SKCA-BR 9 17794161 17794161 single base substitution C T intron_variant SKCA-BR 9 17794317 17794317 single base substitution C T intron_variant SKCA-BR 9 17794612 17794612 single base substitution C T intron_variant SKCA-BR 9 17794764 17794764 single base substitution G A intron_variant SKCA-BR 9 17797899 17797899 single base substitution G A downstream_gene_variant SKCA-BR 9 17799426 17799426 single base substitution A G downstream_gene_variant SKCA-BR 9 17800293 17800293 single base substitution C T downstream_gene_variant SKCA-BR 9 17800888 17800888 single base substitution C T downstream_gene_variant SKCA-BR 9 17801414 17801414 single base substitution C A downstream_gene_variant SKCA-BR 9 17801881 17801881 single base substitution G A downstream_gene_variant SKCM-US 9 17747095 17747095 single base substitution G A 5_prime_UTR_variant SKCM-US 9 17747095 17747095 single base substitution G A missense_variant G26E 77G>A SKCM-US 9 17786423 17786423 single base substitution C T missense_variant R31C 91C>T SKCM-US 9 17786423 17786423 single base substitution C T missense_variant R78C 232C>T SKCM-US 9 17786438 17786438 single base substitution G A missense_variant G36R 106G>A SKCM-US 9 17786438 17786438 single base substitution G A missense_variant G83R 247G>A SKCM-US 9 17787380 17787380 single base substitution C T missense_variant P112S 334C>T SKCM-US 9 17787380 17787380 single base substitution C T missense_variant P65S 193C>T SKCM-US 9 17787503 17787503 single base substitution G A missense_variant E106K 316G>A SKCM-US 9 17787503 17787503 single base substitution G A missense_variant E153K 457G>A SKCM-US 9 17789545 17789545 single base substitution G A missense_variant M160I 480G>A SKCM-US 9 17789545 17789545 single base substitution G A missense_variant M207I 621G>A SKCM-US 9 17791249 17791249 single base substitution C T synonymous_variant L168L 504C>T SKCM-US 9 17791249 17791249 single base substitution C T synonymous_variant L215L 645C>T SKCM-US 9 17791332 17791332 single base substitution G A missense_variant R196K 587G>A SKCM-US 9 17791332 17791332 single base substitution G A missense_variant R243K 728G>A SKCM-US 9 17791333 17791333 single base substitution G A splice_donor_variant SKCM-US 9 17795553 17795553 single base substitution G A missense_variant D244N 730G>A SKCM-US 9 17795553 17795553 single base substitution G A missense_variant D291N 871G>A SKCM-US 9 17795610 17795610 single base substitution G A missense_variant G263R 787G>A SKCM-US 9 17795610 17795610 single base substitution G A missense_variant G310R 928G>A SKCM-US 9 17795676 17795676 single base substitution C A missense_variant L285M 853C>A SKCM-US 9 17795676 17795676 single base substitution C A missense_variant L332M 994C>A SKCM-US 9 17795682 17795682 single base substitution G A missense_variant G287S 859G>A SKCM-US 9 17795682 17795682 single base substitution G A missense_variant G334S 1000G>A SKCM-US 9 17795735 17795735 single base substitution C T synonymous_variant P304P 912C>T SKCM-US 9 17795735 17795735 single base substitution C T synonymous_variant P351P 1053C>T STAD-US 9 17786463 17786463 single base substitution C T missense_variant A44V 131C>T STAD-US 9 17786463 17786463 single base substitution C T missense_variant A91V 272C>T STAD-US 9 17789403 17789403 single base substitution A C missense_variant K113T 338A>C STAD-US 9 17789403 17789403 single base substitution A C missense_variant K160T 479A>C STAD-US 9 17789413 17789413 single base substitution T G synonymous_variant G116G 348T>G STAD-US 9 17789413 17789413 single base substitution T G synonymous_variant G163G 489T>G STAD-US 9 17795579 17795579 single base substitution C T synonymous_variant Y252Y 756C>T STAD-US 9 17795579 17795579 single base substitution C T synonymous_variant Y299Y 897C>T STAD-US 9 17795624 17795624 single base substitution C T synonymous_variant G267G 801C>T STAD-US 9 17795624 17795624 single base substitution C T synonymous_variant G314G 942C>T THCA-SA 9 17795940 17795940 single base substitution G A 3_prime_UTR_variant THCA-SA 9 17795940 17795940 single base substitution G A downstream_gene_variant THCA-SA 9 17796377 17796377 single base substitution G C 3_prime_UTR_variant THCA-SA 9 17796377 17796377 single base substitution G C downstream_gene_variant UCEC-US 9 17786519 17786519 single base substitution T G missense_variant F110V 328T>G UCEC-US 9 17786519 17786519 single base substitution T G missense_variant F63V 187T>G UCEC-US 9 17789460 17789460 single base substitution C T missense_variant P132L 395C>T UCEC-US 9 17789460 17789460 single base substitution C T missense_variant P179L 536C>T UCEC-US 9 17791249 17791249 single base substitution C A synonymous_variant L168L 504C>A UCEC-US 9 17791249 17791249 single base substitution C A synonymous_variant L215L 645C>A UCEC-US 9 17795629 17795629 single base substitution T C missense_variant I269T 806T>C UCEC-US 9 17795629 17795629 single base substitution T C missense_variant I316T 947T>C UCEC-US 9 17795684 17795684 single base substitution C T synonymous_variant G287G 861C>T UCEC-US 9 17795684 17795684 single base substitution C T synonymous_variant G334G 1002C>T UCEC-US 9 17795741 17795741 single base substitution G T stop_lost *306Y 918G>T UCEC-US 9 17795741 17795741 single base substitution G T stop_lost *353Y 1059G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D1-A17Q-01 COSM1107543 c.645C>A p.L215L Substitution - coding silent 9:17791251-17791251 + TARGET-30-PANLET COSM1287880 c.1004A>T p.H335L Substitution - Missense 9:17795688-17795688 + YUKSI COSM5410901 c.921G>A p.G307G Substitution - coding silent 9:17795605-17795605 + TCGA-D3-A51J-06 COSM3656377 c.1053C>T p.P351P Substitution - coding silent 9:17795737-17795737 + TCGA-DD-A11C-01 COSM4925569 c.195A>G p.R65R Substitution - coding silent 9:17786388-17786388 + BK0097 COSM3848198 c.94G>A p.D32N Substitution - Missense 9:17747114-17747114 + pfg160T COSM4750586 c.974A>G p.E325G Substitution - Missense 9:17795658-17795658 + TCGA-D8-A27G-01 COSM3848198 c.94G>A p.D32N Substitution - Missense 9:17747114-17747114 + S02246 COSM5679258 c.282A>T p.A94A Substitution - coding silent 9:17786475-17786475 + B18-Tumor COSM1756093 c.474A>G p.L158L Substitution - coding silent 9:17789400-17789400 + YUKLAB COSM1700959 c.583G>A p.E195K Substitution - Missense 9:17789509-17789509 + TCGA-66-2766-01 COSM752933 c.505G>A p.D169N Substitution - Missense 9:17789431-17789431 + CSCC-60-T COSM4522968 c.118G>A p.V40M Substitution - Missense 9:17761440-17761440 + TCGA-22-0944-01 COSM752931 c.908C>A p.P303H Substitution - Missense 9:17795592-17795592 + LUAD-E00934 COSM393851 c.970G>C p.D324H Substitution - Missense 9:17795654-17795654 + LAU165 COSM233350 c.79A>G p.T27A Substitution - Missense 9:17747099-17747099 + 2334192 COSM315149 c.860G>C p.G287A Substitution - Missense 9:17795544-17795544 + 1960034 COSM1265493 c.175C>T p.Q59* Substitution - Nonsense 9:17761497-17761497 + TCGA-GN-A269-01 COSM3656373 c.728+1G>A p.? Unknown 9:17791335-17791335 + ESCC-214T COSM3942987 c.876G>T p.Q292H Substitution - Missense 9:17795560-17795560 + TCGA-GN-A269-01 COSM3656371 c.457G>A p.E153K Substitution - Missense 9:17787505-17787505 + LAU165 COSM233351 c.922G>A p.E308K Substitution - Missense 9:17795606-17795606 + TCGA-BR-4362-01 COSM3906407 c.942C>T p.G314G Substitution - coding silent 9:17795626-17795626 + sysucc-854T COSM5765085 c.943G>T p.D315Y Substitution - Missense 9:17795627-17795627 + TCGA-BS-A0UV-01 COSM214284 c.536C>T p.P179L Substitution - Missense 9:17789462-17789462 + SW403 COSM1107546 c.1002C>T p.G334G Substitution - coding silent 9:17795686-17795686 + TCGA-EE-A2GB-06 COSM3656368 c.77G>A p.G26E Substitution - Missense 9:17747097-17747097 + TCGA-DD-A113-01 COSM4925350 c.360C>A p.A120A Substitution - coding silent 9:17787408-17787408 + PD23565a COSM3091031 c.374C>T p.S125L Substitution - Missense 9:17787422-17787422 + LUAD-RT-S01774 COSM381673 c.937G>T p.E313* Substitution - Nonsense 9:17795621-17795621 + CHC465T COSM3669942 c.926T>C p.L309S Substitution - Missense 9:17795610-17795610 + MDA-MB-435 COSM1674398 c.297A>C p.K99N Substitution - Missense 9:17786490-17786490 + ESO-075 COSM1265492 c.904G>T p.E302* Substitution - Nonsense 9:17795588-17795588 + TCGA-FS-A1ZK-06 COSM3656369 c.232C>T p.R78C Substitution - Missense 9:17786425-17786425 + CHC464T COSM3669942 c.926T>C p.L309S Substitution - Missense 9:17795610-17795610 + TCGA-EE-A2MG-06 COSM3656370 c.247G>A p.G83R Substitution - Missense 9:17786440-17786440 + 2296_T COSM3952604 c.807C>G p.D269E Substitution - Missense 9:17793445-17793445 + 513 COSM3723532 c.646T>A p.S216T Substitution - Missense 9:17791252-17791252 + PD7306a COSM5789005 c.1035A>C p.E345D Substitution - Missense 9:17795719-17795719 + TCGA-K7-A5RG-01 COSM4930144 c.591T>A p.A197A Substitution - coding silent 9:17789517-17789517 + 1604875 COSM141257 c.770C>T p.P257L Substitution - Missense 9:17793408-17793408 + TCGA-AM-5820-01 COSM3699630 c.941G>A p.G314D Substitution - Missense 9:17795625-17795625 + Pat_76_A COSM5876021 c.115-1G>A p.? Unknown 9:17761436-17761436 + TCGA-BS-A0UA-01 COSM214284 c.536C>T p.P179L Substitution - Missense 9:17789462-17789462 + PD6048a COSM5781745 c.261T>A p.P87P Substitution - coding silent 9:17786454-17786454 + TCGA-DD-A11A-01 COSM4940387 c.1032G>A p.V344V Substitution - coding silent 9:17795716-17795716 + TCGA-AN-A04A-01 COSM455725 c.338C>T p.A113V Substitution - Missense 9:17787386-17787386 + TCGA-D7-A4YT-01 COSM3091051 c.897C>T p.Y299Y Substitution - coding silent 9:17795581-17795581 + TCGA-ER-A19C-06 COSM3656374 c.871G>A p.D291N Substitution - Missense 9:17795555-17795555 + CHC465T COSM3669942 c.926T>C p.L309S Substitution - Missense 9:17795610-17795610 + TCGA-22-1016-01 COSM752934 c.172C>A p.L58I Substitution - Missense 9:17761494-17761494 + ESCC_BICR_041T COSM1554421 c.571G>A p.D191N Substitution - Missense 9:17789497-17789497 + PT49 COSM5935516 c.241G>A p.E81K Substitution - Missense 9:17786434-17786434 + 60T COSM107345 c.898G>A p.D300N Substitution - Missense 9:17795582-17795582 + TCGA-UB-A7MB-01 COSM4931740 c.801T>A p.T267T Substitution - coding silent 9:17793439-17793439 + TCGA-D1-A174-01 COSM1107548 c.1059G>T p.*353Y Nonstop extension 9:17795743-17795743 + EGC8 COSM3091049 c.811A>G p.T271A Substitution - Missense 9:17793449-17793449 + MDA-N COSM1674398 c.297A>C p.K99N Substitution - Missense 9:17786490-17786490 + TCGA-AP-A0LG-01 COSM214284 c.536C>T p.P179L Substitution - Missense 9:17789462-17789462 + TCGA-CG-4469-01 COSM3906405 c.479A>C p.K160T Substitution - Missense 9:17789405-17789405 + TCGA-CA-6717-01 COSM1461606 c.829C>T p.L277F Substitution - Missense 9:17793467-17793467 + S01366 COSM5668360 c.191C>A p.S64Y Substitution - Missense 9:17786384-17786384 + TCGA-FW-A3R5-06 COSM3926572 c.621G>A p.M207I Substitution - Missense 9:17789547-17789547 + PT19_2 COSM3656371 c.457G>A p.E153K Substitution - Missense 9:17787505-17787505 + TCGA-IH-A3EA-01 COSM3656376 c.1000G>A p.G334S Substitution - Missense 9:17795684-17795684 + S01366 COSM315150 c.191_192CC>AA p.S64>? Complex 9:17786384-17786385 + DN11006 COSM5781745 c.261T>A p.P87P Substitution - coding silent 9:17786454-17786454 + ESO-083 COSM1265493 c.175C>T p.Q59* Substitution - Nonsense 9:17761497-17761497 + TCGA-EI-7004-01 COSM3433044 c.493C>T p.R165C Substitution - Missense 9:17789419-17789419 + TCGA-EB-A44O-01 COSM3656371 c.457G>A p.E153K Substitution - Missense 9:17787505-17787505 + TCGA-HC-A631-01 COSM4392233 c.703C>T p.Q235* Substitution - Nonsense 9:17791309-17791309 + B111 COSM1756094 c.658C>A p.Q220K Substitution - Missense 9:17791264-17791264 + 98735 COSM326461 c.940G>A p.G314S Substitution - Missense 9:17795624-17795624 + YURED COSM1700958 c.185C>T p.P62L Substitution - Missense 9:17761507-17761507 + TCGA-BR-8680-01 COSM3906404 c.272C>T p.A91V Substitution - Missense 9:17786465-17786465 + YUKLAB COSM1700960 c.989G>A p.G330E Substitution - Missense 9:17795673-17795673 + LUAD-NYU284 COSM273238 c.56A>T p.E19V Substitution - Missense 9:17747076-17747076 + TCGA-BR-6452-01 COSM3906406 c.489T>G p.G163G Substitution - coding silent 9:17789415-17789415 + pfg024T COSM1643797 c.551G>A p.R184H Substitution - Missense 9:17789477-17789477 + TCGA-FW-A3R5-06 COSM3926573 c.728G>A p.R243K Substitution - Missense 9:17791334-17791334 + ATL075 COSM1643797 c.551G>A p.R184H Substitution - Missense 9:17789477-17789477 + TCGA-BG-A18B-01 COSM1107544 c.943G>A p.D315N Substitution - Missense 9:17795627-17795627 + LUAD-NYU160 COSM370617 c.332G>T p.G111V Substitution - Missense 9:17787380-17787380 + SW837 COSM3091031 c.374C>T p.S125L Substitution - Missense 9:17787422-17787422 + TCGA-AD-6895-01 COSM1461604 c.138T>A p.A46A Substitution - coding silent 9:17761460-17761460 + S0004 COSM5884836 c.803G>A p.G268E Substitution - Missense 9:17793441-17793441 + PT16_1 COSM3926574 c.928G>A p.G310R Substitution - Missense 9:17795612-17795612 + TCGA-BH-A1FC-01 COSM1489880 c.156T>A p.T52T Substitution - coding silent 9:17761478-17761478 + ESO-0019 COSM1265491 c.160A>G p.T54A Substitution - Missense 9:17761482-17761482 + J90_T COSM3952603 c.414C>G p.N138K Substitution - Missense 9:17787462-17787462 + PT37 COSM5919749 c.103G>A p.E35K Substitution - Missense 9:17747123-17747123 + SA210 COSM214284 c.536C>T p.P179L Substitution - Missense 9:17789462-17789462 + B111-Tumor COSM1756094 c.658C>A p.Q220K Substitution - Missense 9:17791264-17791264 + TCGA-BS-A0TA-01 COSM1107542 c.413A>C p.N138T Substitution - Missense 9:17787461-17787461 + ME024T COSM226215 c.919G>A p.G307R Substitution - Missense 9:17795603-17795603 + TCGA-AX-A0J1-01 COSM1107546 c.1002C>T p.G334G Substitution - coding silent 9:17795686-17795686 + 587234 COSM1225572 c.872A>G p.D291G Substitution - Missense 9:17795556-17795556 + TCGA-CA-6717-01 COSM1461607 c.957C>A p.L319L Substitution - coding silent 9:17795641-17795641 + sysucc-1163T COSM3906407 c.942C>T p.G314G Substitution - coding silent 9:17795626-17795626 + 1286T COSM5762817 c.821A>G p.N274S Substitution - Missense 9:17793459-17793459 + DN11197 COSM5789005 c.1035A>C p.E345D Substitution - Missense 9:17795719-17795719 + B18 COSM1756093 c.474A>G p.L158L Substitution - coding silent 9:17789400-17789400 + TCGA-HT-7687-01 COSM107345 c.898G>A p.D300N Substitution - Missense 9:17795582-17795582 + LUAD-E00897 COSM364825 c.847C>T p.P283S Substitution - Missense 9:17793485-17793485 + TCGA-DI-A0WH-01 COSM1107547 c.1039C>A p.L347M Substitution - Missense 9:17795723-17795723 + TCGA-FS-A1Z3-06 COSM3656375 c.994C>A p.L332M Substitution - Missense 9:17795678-17795678 + ESCC-159T COSM3942986 c.385G>A p.D129N Substitution - Missense 9:17787433-17787433 + TCGA-B0-5098-01 COSM1497003 c.336A>G p.P112P Substitution - coding silent 9:17787384-17787384 + TCGA-B5-A11E-01 COSM1107545 c.947T>C p.I316T Substitution - Missense 9:17795631-17795631 + TCGA-EE-A2MC-06 COSM3656372 c.645C>T p.L215L Substitution - coding silent 9:17791251-17791251 + TCGA-DU-8167-01 COSM3929982 c.81C>T p.T27T Substitution - coding silent 9:17747101-17747101 + ESO-0292 COSM1241731 c.217A>G p.T73A Substitution - Missense 9:17786410-17786410 + HT115 COSM3091042 c.641A>C p.Q214P Substitution - Missense 9:17791247-17791247 + 01-P1216 COSM4588720 c.749A>C p.Q250P Substitution - Missense 9:17793387-17793387 + 473 COSM4438219 c.352G>A p.G118R Substitution - Missense 9:17787400-17787400 + PT17_1 COSM3656371 c.457G>A p.E153K Substitution - Missense 9:17787505-17787505 + TCGA-EE-A3J7-06 COSM3926574 c.928G>A p.G310R Substitution - Missense 9:17795612-17795612 + TCGA-AA-3966-01 COSM273238 c.56A>T p.E19V Substitution - Missense 9:17747076-17747076 + LUAD-RT-S01777 COSM382576 c.661G>A p.A221T Substitution - Missense 9:17791267-17791267 + H1672 COSM315149 c.860G>C p.G287A Substitution - Missense 9:17795544-17795544 + TCGA-AK-3436-01 COSM1137981 c.530A>G p.K177R Substitution - Missense 9:17789456-17789456 + CSCC-20-T COSM4493562 c.417C>T p.F139F Substitution - coding silent 9:17787465-17787465 + 61 COSM5738557 c.246G>T p.K82N Substitution - Missense 9:17786439-17786439 + Pat_76_B COSM5876021 c.115-1G>A p.? Unknown 9:17761436-17761436 + TCGA-FW-A3R5-06 COSM3926571 c.334C>T p.P112S Substitution - Missense 9:17787382-17787382 + TCGA-E2-A14N-01 COSM455726 c.970G>A p.D324N Substitution - Missense 9:17795654-17795654 + TCGA-06-6390 COSM2153458 c.638G>A p.S213N Substitution - Missense 9:17791244-17791244 + S02397 COSM5699466 c.656T>A p.V219E Substitution - Missense 9:17791262-17791262 + YUKSI COSM5410900 c.50T>G p.V17G Substitution - Missense 9:17747070-17747070 + CADO-ES1 COSM3091050 c.834C>T p.S278S Substitution - coding silent 9:17793472-17793472 + ESO-601 COSM1265494 c.800C>A p.T267N Substitution - Missense 9:17793438-17793438 + 2521244 COSM5887363 c.848C>T p.P283L Substitution - Missense 9:17793486-17793486 + S02344 COSM5693880 c.927G>T p.L309F Substitution - Missense 9:17795611-17795611 + DN14067 COSM5960611 c.310C>T p.L104F Substitution - Missense 9:17786503-17786503 + ESO-708 COSM1265495 c.12C>T p.A4A Substitution - coding silent 9:17579254-17579254 + TCGA-CA-6717-01 COSM1461605 c.779G>A p.R260Q Substitution - Missense 9:17793417-17793417 + S02093 COSM3091037 c.520C>T p.R174* Substitution - Nonsense 9:17789446-17789446 + TCGA-B5-A0JY-01 COSM1107541 c.328T>G p.F110V Substitution - Missense 9:17786521-17786521 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.75149 9p22 604465 2464968|CGAP|BC032825|G/T|non-coding||2039|Validated; 1523178|dbSNP|BC032825|G/T|non-coding||2039|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A 3-UTRInsertion . c.1056+527dupA 9 17796262 HC A C Missense p.K160T c.479A>C 9 17789403 STAD A G Missense p.T54A c.160A>G 9 17761480 ESCA A T 3-UTRSNV . c.1056+69A>T 9 17795807 CM A T Missense p.H335L c.1004A>T 9 17795686 NB A T Missense p.I232F c.694A>T 9 17791298 HNSC C A IntronicSNV . c.188-2530C>A 9 17783849 CLL C A Missense p.L332M c.994C>A 9 17795676 CM C A Missense p.L58I c.172C>A 9 17761492 LUSC C A Missense p.P303H c.908C>A 9 17795590 LUSC C A Missense p.T267N c.800C>A 9 17793436 ESCA CC AA Missense p.S64* c.191_192delinsAA 9 17786382 SCLC CC TT Missense p.P266L c.796_797delinsTT 9 17793432 CM C G IntronicSNV . c.45+10658C>G 9 17589943 CLL C T IntronicSNV . c.45+18005C>T 9 17597290 CLL C T Missense p.A113V c.338C>T 9 17787384 BRCA C T Missense p.P179L c.536C>T 9 17789460 BRCA C T Missense p.P179L c.536C>T 9 17789460 UCEC C T Missense p.R78C c.232C>T 9 17786423 CM C T Nonsense p.Q235* c.703C>T 9 17791307 PRAD C T Nonsense p.Q59* c.175C>T 9 17761495 ESCA C T Synonymous p.A4A c.12C>T 9 17579252 ESCA C T Synonymous p.L215L c.645C>T 9 17791249 CM C T Synonymous p.T27T c.81C>T 9 17747099 LGG G A Missense p.D107N c.319G>A 9 17786510 LUAD G A Missense p.D169N c.505G>A 9 17789429 LUSC G A Missense p.D291N c.871G>A 9 17795553 CM G A Missense p.D300N c.898G>A 9 17795580 LGG G A Missense p.D324N c.970G>A 9 17795652 BRCA G A Missense p.E134K c.400G>A 9 17787446 CM G A Missense p.E153K c.457G>A 9 17787503 CM G A Missense p.G26E c.77G>A 9 17747095 CM G A Missense p.G307R c.919G>A 9 17795601 CM G A Missense p.G310R c.928G>A 9 17795610 CM G A Missense p.G314S c.940G>A 9 17795622 SCLC G A Missense p.G334S c.1000G>A 9 17795682 CM G A Missense p.G83R c.247G>A 9 17786438 CM G A Missense p.R184H c.551G>A 9 17789475 STAD G A Missense p.S213N c.638G>A 9 17791242 GBM G A SpliceDonorSNV . c.728+1G>A 9 17791333 CM G C Missense p.E224Q c.670G>C 9 17791274 BRCA G C Missense p.G287A c.860G>C 9 17795542 SCLC GG AA Missense p.E308K c.921_922delinsAA 9 17795603 CM G T 3-UTRSNV . c.1056+3G>T 9 17795741 UCEC G T IntronicSNV . c.45+31800G>T 9 17611085 CLL G T Missense p.G334C c.1000G>T 9 17795682 LUAD G T Missense p.K67N c.201G>T 9 17786392 COREAD G T Missense p.M201I c.603G>T 9 17789527 LUAD G T Nonsense p.E302* c.904G>T 9 17795586 ESCA G T Synonymous p.L298L c.894G>T 9 17795576 LUAD T A IntronicSNV . c.115-7066T>A 9 17754369 CLL T A Synonymous p.T52T c.156T>A 9 17761476 BRCA T C IntronicSNV . c.45+58921T>C 9 17638206 PIA