regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FARP1_chr13_98138094_98460176 | 98198909 | C | CCTGCTCC others(296): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01517.hp2 HG02056.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0005a0001c0002t0006a0001c0002t0008others(1): Show | a0001c0001t0005g0052a0001c0002t0006g0066a0001c0002t0008g0032others(1): Show | 4 | 218 | 0.0184 | 303 | c.-23 others(322): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98198909 | C | CCTGCTCC others(296): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0173 | 1 | 218 | 0.0046 | 303 | c.-23 others(322): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FCHO2_chr5_72951041_73095522 | 73037315 | C | CAAAAGTA others(296): Show |
intron_variant | MODIFIER | HG02965.hp2 NA18906.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0099a0001c0003t0003g0100 | 2 | 286 | 0.0070 | 303 | c.914 others(318): Show |
FCHO2 | ENSG00000157107.14 | transcript | ENST00000430046.7 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FCHO2_chr5_72951041_73095522 | 73037315 | C | CAAAAGTA others(296): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG01081.hp1 others(31): Show |
a0001a0006 | a0001c0003a0001c0004a0001c0005others(2): Show | a0001c0003t0008a0001c0004t0003a0001c0004t0009others(5): Show | a0001c0003t0008g0110a0001c0004t0003g0237a0001c0004t0003g0238others(31): Show | 34 | 286 | 0.1189 | 303 | c.914 others(318): Show |
FCHO2 | ENSG00000157107.14 | transcript | ENST00000430046.7 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FCHO2_chr5_72951041_73095522 | 73037315 | C | CAAAAGTA others(296): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0244 | 1 | 286 | 0.0035 | 303 | c.914 others(318): Show |
FCHO2 | ENSG00000157107.14 | transcript | ENST00000430046.7 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FOXP1_chr3_70949708_71588728 | 71435459 | A | AAGAAGGG others(296): Show |
intron_variant | MODIFIER | HG02723.hp1 HG04199.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0032a0001c0001t0037 | a0001c0001t0011g0001a0001c0001t0032g0089a0001c0001t0037g0011 | 3 | 96 | 0.0313 | 303 | c.-16 others(324): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435459 | A | AAGAAGGG others(296): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0069 | 1 | 96 | 0.0104 | 303 | c.-16 others(324): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435459 | A | AAGAAGGG others(296): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0071 | 1 | 96 | 0.0104 | 303 | c.-16 others(324): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
FOXQ1_chr6_1307098_1319758 | 1318778 | G | GGGGTATG others(296): Show |
downstream_gene_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 406 | 0.0025 | 303 | c.*48 others(314): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4021 | chr6 | TogoVar | ||||||
FRMPD4_chrX_12133473_12729523 | 12331774 | A | AGTATATA others(296): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0019 | 1 | 174 | 0.0058 | 303 | c.42- others(322): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | chrX | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46377773 | A | AGTGAGGG others(296): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00621.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0026others(10): Show | a0001c0001t0002g0094a0001c0001t0008g0093a0001c0001t0026g0132others(10): Show | 13 | 258 | 0.0504 | 303 | c.187 others(320): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46377879 | A | AGCTAGCC others(296): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0063 | 1 | 258 | 0.0039 | 303 | c.187 others(320): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46377967 | C | CCCATCCA others(296): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0085 | 1 | 258 | 0.0039 | 303 | c.187 others(320): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46377967 | C | CCCATCCA others(296): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02622.hp1 HG02809.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027a0001c0001t0028others(5): Show | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0027g0133others(6): Show | 9 | 258 | 0.0349 | 303 | c.187 others(320): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46377967 | C | CCCATCCA others(296): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0052 | 1 | 258 | 0.0039 | 303 | c.187 others(320): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46377967 | C | CCCATCCA others(296): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0077 | 1 | 258 | 0.0039 | 303 | c.187 others(320): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46377967 | C | CCCATCCA others(296): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00639.hp1 others(83): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(71): Show | a0001c0001t0002g0089a0001c0001t0002g0090a0001c0001t0002g0097others(83): Show | 86 | 258 | 0.3333 | 303 | c.187 others(320): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46377967 | C | CCCATCCA others(296): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0187 | 1 | 258 | 0.0039 | 303 | c.187 others(320): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46378002 | G | GCCCGGCC others(296): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0002 | a0001c0002t0156 | a0001c0002t0156g0175 | 1 | 258 | 0.0039 | 303 | c.187 others(320): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46378045 | C | CCCCCCAC others(296): Show |
intron_variant | MODIFIER | HG01261.hp2 HG03927.hp2 |
a0001 | a0001c0002 | a0001c0002t0173a0001c0002t0195 | a0001c0002t0173g0219a0001c0002t0195g0253 | 2 | 258 | 0.0078 | 303 | c.187 others(320): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
GALK1_chr17_75752894_75770192 | 75766919 | C | CCGCCTCC others(296): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00609.hp2 others(71): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0014others(11): Show | 74 | 452 | 0.1637 | 303 | c.-17 others(314): Show |
GALK1 | ENSG00000108479.13 | transcript | ENST00000588479.6 | protein_coding | 1728 | chr17 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252872 | C | CCATCACC others(296): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0003 | a0002c0003t0071 | a0002c0003t0071g0226 | 1 | 366 | 0.0027 | 303 | c.666 others(320): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GLIS3_chr9_3819127_4305068 | 3876693 | G | GGGAGGAA others(296): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01346.hp1 HG01346.hp2 others(5): Show |
a0001a0013 | a0001c0001a0013c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0100a0001c0001t0001g0150a0001c0001t0002g0109others(5): Show | 8 | 188 | 0.0426 | 303 | c.229 others(322): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053579 | C | CCAAACCA others(296): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 314 | 0.0032 | 303 | c.310 others(318): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GSE1_chr16_85608322_85681200 | 85653214 | T | TCCTCCTC others(296): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0272 | 1 | 290 | 0.0035 | 303 | c.427 others(320): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GTPBP6_chrX_299759_323796 | 321631 | A | AAAAGAAA others(296): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0146 | 1 | 155 | 0.0065 | 303 | c.-28 others(314): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2836 | chrX | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106709627 | A | ATTATATA others(296): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0214 | 1 | 256 | 0.0039 | 303 | c.183 others(320): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106709627 | A | ATTATATA others(296): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0004 | 1 | 256 | 0.0039 | 303 | c.183 others(320): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106709759 | G | GTTATATA others(296): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0008 | a0001c0008t0054 | a0001c0008t0054g0020 | 1 | 256 | 0.0039 | 303 | c.183 others(322): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
GULP1_chr2_188286874_188600926 | 188298290 | T | TCTCACGC others(296): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 162 | 0.0062 | 303 | c.-17 others(322): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 1/11 | chr2 | TogoVar | ||||||
HAAO_chr2_42762089_42797583 | 42796927 | G | GCATTTTT others(296): Show |
upstream_gene_variant | MODIFIER | NA19012.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0190 | 1 | 410 | 0.0024 | 303 | c.-43 others(314): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 4345 | chr2 | TogoVar | ||||||
HAAO_chr2_42762089_42797583 | 42796927 | G | GCATTTTT others(296): Show |
upstream_gene_variant | MODIFIER | NA18982.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0172 | 1 | 410 | 0.0024 | 303 | c.-43 others(314): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 4345 | chr2 | TogoVar | ||||||
HAAO_chr2_42762089_42797583 | 42796927 | G | GCATTTTT others(296): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0152 | 1 | 410 | 0.0024 | 303 | c.-43 others(314): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 4345 | chr2 | TogoVar | ||||||
HAAO_chr2_42762089_42797583 | 42796927 | G | GCATTTTT others(296): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(92): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0010 | a0001c0001t0001a0001c0001t0009a0002c0002t0001others(4): Show | a0001c0001t0001g0178a0001c0001t0001g0179a0001c0001t0001g0180others(83): Show | 95 | 410 | 0.2317 | 303 | c.-43 others(314): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 4345 | chr2 | TogoVar | ||||||
HAAO_chr2_42762089_42797583 | 42796927 | G | GCATTTTT others(296): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 NA18952.hp1 NA18970.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0121a0002c0002t0003g0129a0002c0002t0003g0130others(2): Show | 5 | 410 | 0.0122 | 303 | c.-43 others(314): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 4345 | chr2 | TogoVar | ||||||
HACD2_chr3_123486554_123590053 | 123490418 | G | GAAAAAGC others(296): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00738.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(27): Show | 31 | 350 | 0.0886 | 303 | c.*44 others(314): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 1135 | chr3 | TogoVar | ||||||
HBQ1_chr16_175459_186179 | 182788 | G | GTGAAACA others(296): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 303 | c.*16 others(314): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 1610 | chr16 | TogoVar | ||||||
HEPACAM_chr11_124914205_124941047 | 124940951 | T | TAAGAAAA others(296): Show |
upstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0056 | 1 | 420 | 0.0024 | 303 | c.-49 others(314): Show |
HEPACAM | ENSG00000165478.8 | transcript | ENST00000298251.5 | protein_coding | 4905 | chr11 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41544730 | C | CGCTACCA others(296): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0003 | a0001c0003t0034 | a0001c0003t0034g0107 | 1 | 134 | 0.0075 | 303 | c.520 others(324): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41544864 | C | CCACCACC others(296): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01358.hp1 HG03041.hp2 |
a0002a0018 | a0002c0002a0018c0024 | a0002c0002t0037a0002c0002t0045a0018c0024t0051 | a0002c0002t0037g0094a0002c0002t0045g0015a0018c0024t0051g0064 | 3 | 134 | 0.0224 | 303 | c.520 others(324): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41544953 | T | TCTACCAC others(296): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0006 | 1 | 134 | 0.0075 | 303 | c.520 others(324): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
HS3ST2_chr16_22809162_22921338 | 22818800 | C | CCTTCCTT others(296): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126a0001c0002t0001g0127 | 2 | 350 | 0.0057 | 303 | c.485 others(320): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HS3ST2_chr16_22809162_22921338 | 22818800 | C | CCTTCCTT others(296): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176a0001c0001t0001g0177 | 2 | 350 | 0.0057 | 303 | c.485 others(320): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ILF3_chr19_10649346_10697400 | 10672357 | T | TTTTTTTT others(296): Show |
intron_variant | MODIFIER | HG02735.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197a0001c0001t0001g0236 | 2 | 346 | 0.0058 | 303 | c.411 others(318): Show |
ILF3 | ENSG00000129351.18 | transcript | ENST00000588657.6 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
INO80_chr15_40973880_41121280 | 41031545 | A | AGGAAGGG others(296): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 | 1 | 282 | 0.0036 | 303 | c.290 others(322): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GATGGGCA others(296): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0092 | 2 | 204 | 0.0098 | 303 | c.978 others(320): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | chr10 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 103603 | G | GCTCAGGA others(296): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02922.hp1 HG03516.hp1 |
a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0027a0002c0001t0004g0028a0002c0001t0004g0029 | 3 | 282 | 0.0106 | 303 | c.623 others(320): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
JAKMIP1_chr4_6021199_6205549 | 6067579 | G | GCACTCAA others(296): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 233 | 0.0043 | 303 | c.130 others(322): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 8/20 | chr4 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6067579 | G | GCACTCAA others(296): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 233 | 0.0043 | 303 | c.130 others(322): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 8/20 | chr4 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44132792 | A | ACCCACCC others(296): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(52): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(21): Show | a0001c0001t0001g0226a0001c0001t0001g0239a0001c0001t0001g0248others(52): Show | 55 | 338 | 0.1627 | 303 | c.117 others(324): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar |