| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CYP3A5_chr7_99643194_99684996 | 99675638 | T | TCTCCTCT others(239): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0107 | 1 | 292 | 0.0034 | 246 | c.165 others(261): Show |
CYP3A5 | ENSG00000106258.16 | transcript | ENST00000222982.8 | protein_coding | 2/12 | chr7 | TogoVar | ||||||
| DCLK1_chr13_35763652_36136382 | 35958279 | T | TTACTACT others(239): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0151 | 1 | 230 | 0.0044 | 246 | c.724 others(265): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
| DCLK2_chr4_150073445_150262438 | 150251077 | C | CACACCCC others(239): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0086 | 1 | 116 | 0.0086 | 246 | c.207 others(265): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| DIP2C_chr10_269201_694668 | 478383 | G | GGAGGGAA others(239): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01934.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0050a0001c0003t0002g0037 | 2 | 88 | 0.0227 | 246 | c.158 others(263): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 516786 | T | TAGGGTGG others(239): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0029 | 1 | 88 | 0.0114 | 246 | c.86- others(263): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DNAH17_chr17_78418697_78582396 | 78478100 | T | TCATCATT others(239): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02258.hp1 HG02976.hp1 others(2): Show |
a0005a0076a0094others(2): Show | a0005c0053a0076c0221a0094c0093others(2): Show | a0005c0053t0001a0076c0221t0001a0094c0093t0001others(2): Show | a0005c0053t0001g0176a0076c0221t0001g0139a0094c0093t0001g0089others(2): Show | 5 | 252 | 0.0198 | 246 | c.799 others(263): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | ||||||
| DNAI7_chr12_25103289_25200160 | 25106550 | G | GTACAGTA others(239): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG02004.hp1 HG02083.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0204a0002c0002t0001g0211others(2): Show | 6 | 336 | 0.0179 | 246 | c.*19 others(257): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 1738 | chr12 | TogoVar | ||||||
| DOCK1_chr10_126900428_127457516 | 127428974 | A | ATGTGGAT others(239): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG01884.hp1 others(1): Show |
a0001a0002 | a0001c0006a0001c0060a0001c0061others(1): Show | a0001c0006t0001a0001c0060t0002a0001c0061t0001others(1): Show | a0001c0006t0001g0102a0001c0060t0002g0109a0001c0061t0001g0096others(1): Show | 4 | 136 | 0.0294 | 246 | c.491 others(265): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 47/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DOCK2_chr5_169632275_170088382 | 169866098 | A | AGGGGGCC others(239): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 184 | 0.0054 | 246 | c.279 others(267): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| DOCK8_chr9_209865_470255 | 400938 | C | CCACCACC others(239): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0160 | 1 | 256 | 0.0039 | 246 | c.323 others(265): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DOP1A_chr6_83062671_83173471 | 83145181 | G | GTATATAT others(239): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 298 | 0.0034 | 246 | c.554 others(263): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 24/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| EGFL7_chr9_136657916_136677678 | 136675317 | C | CAGGGGGC others(239): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 HG02056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0096 | 2 | 432 | 0.0046 | 246 | c.*30 others(257): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 2640 | chr9 | TogoVar | ||||||
| EGFL7_chr9_136657916_136677678 | 136675347 | C | CAGCAGGG others(239): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0009 | a0009c0011 | a0009c0011t0005 | a0009c0011t0005g0002 | 1 | 432 | 0.0023 | 246 | c.*30 others(257): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 2670 | chr9 | TogoVar | ||||||
| EGFL7_chr9_136657916_136677678 | 136675347 | C | CAGCAGGG others(239): Show |
downstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 432 | 0.0023 | 246 | c.*30 others(257): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 2670 | chr9 | TogoVar | ||||||
| EGFL7_chr9_136657916_136677678 | 136675347 | C | CAGCAGGG others(239): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 432 | 0.0023 | 246 | c.*30 others(257): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 2670 | chr9 | TogoVar | ||||||
| EGFL7_chr9_136657916_136677678 | 136675429 | C | CAGCAGGG others(239): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG02257.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0149a0002c0002t0004g0036 | 2 | 432 | 0.0046 | 246 | c.*31 others(257): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 2752 | chr9 | TogoVar | ||||||
| EHMT1_chr9_137614005_137841127 | 137721229 | T | TCCCAGAC others(239): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0148 | 1 | 170 | 0.0059 | 246 | c.642 others(263): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| EML1_chr14_99788413_99947060 | 99927930 | A | ATGGTGGT others(239): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0080 | 1 | 288 | 0.0035 | 246 | c.190 others(265): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| EPHA5_chr4_65314567_65675489 | 65576088 | G | GAAAAGAA others(239): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0203 | 1 | 234 | 0.0043 | 246 | c.910 others(265): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 3/16 | chr4 | TogoVar | ||||||
| EPS8L2_chr11_701231_732727 | 720978 | G | GCCGGCAG others(239): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0094 | 1 | 406 | 0.0025 | 246 | c.558 others(259): Show |
EPS8L2 | ENSG00000177106.17 | transcript | ENST00000318562.13 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| FAM166C_chr2_26557587_26584524 | 26584454 | G | GTCTAGGT others(239): Show |
downstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 412 | 0.0024 | 246 | c.*50 others(257): Show |
FAM166C | ENSG00000173557.15 | transcript | ENST00000329615.4 | protein_coding | 4931 | chr2 | TogoVar | ||||||
| FAM234A_chr16_229821_271096 | 267528 | A | ACACACAC others(239): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG02258.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0229a0001c0002t0002g0301 | 2 | 408 | 0.0049 | 246 | c.*25 others(257): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1433 | chr16 | TogoVar | ||||||
| FAM234A_chr16_229821_271096 | 267799 | C | CCACACGT others(239): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 408 | 0.0025 | 246 | c.*27 others(257): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1704 | chr16 | TogoVar | ||||||
| FGFR4_chr5_177081915_177103144 | 177096905 | T | TTCCTCCT others(239): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03486.hp2 |
a0004 | a0004c0003a0004c0009 | a0004c0003t0005a0004c0009t0005 | a0004c0003t0005g0203a0004c0009t0005g0204 | 2 | 372 | 0.0054 | 246 | c.215 others(263): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| FLT3_chr13_27998274_28105576 | 27998752 | A | ATATATAT others(239): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG01981.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0042a0002c0002t0001g0182 | 2 | 292 | 0.0069 | 246 | c.*52 others(257): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4521 | chr13 | TogoVar | ||||||
| FOXK2_chr17_82514732_82609602 | 82586352 | G | GCAGGGGG others(239): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0153 | 1 | 308 | 0.0033 | 246 | c.157 others(263): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| FOXK2_chr17_82514732_82609602 | 82586551 | A | AGGGGAAA others(239): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0171 | 1 | 308 | 0.0033 | 246 | c.157 others(263): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| FOXN3_chr14_89151177_89422233 | 89361015 | C | CCACCACC others(239): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0144 | 1 | 230 | 0.0044 | 246 | c.544 others(265): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| FOXP1_chr3_70949708_71588728 | 71327315 | G | GAAGCAGC others(239): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0091 | 1 | 96 | 0.0104 | 246 | c.-72 others(265): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 4/20 | chr3 | TogoVar | ||||||
| FSTL5_chr4_161378897_162169000 | 162144964 | T | TTATACAA others(239): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02615.hp1 HG02896.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0091a0001c0001t0001g0092a0001c0001t0001g0093others(1): Show | 4 | 142 | 0.0282 | 246 | c.-17 others(265): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 1/15 | chr4 | TogoVar | ||||||
| GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(239): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 | 1 | 364 | 0.0028 | 246 | c.-20 others(255): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | ||||||
| GPHN_chr14_66503147_67186803 | 66683369 | T | TATATATA others(239): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 234 | 0.0043 | 246 | c.143 others(263): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| GPHN_chr14_66503147_67186803 | 66683369 | T | TATATATA others(239): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0114a0001c0001t0006g0118 | 2 | 234 | 0.0086 | 246 | c.143 others(263): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| GPIHBP1_chr8_143208218_143222170 | 143211636 | G | GGGGGAGG others(239): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0016 | 1 | 106 | 0.0094 | 246 | c.-16 others(257): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1581 | chr8 | TogoVar | ||||||
| GPR157_chr1_9095305_9134102 | 9116202 | T | TATATTAT others(239): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0368 | 1 | 404 | 0.0025 | 246 | c.384 others(263): Show |
GPR157 | ENSG00000180758.12 | transcript | ENST00000377411.5 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
| GRAMD1C_chr3_113833788_113952174 | 113849916 | G | GGGGGGGC others(239): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 324 | 0.0031 | 246 | c.174 others(263): Show |
GRAMD1C | ENSG00000178075.20 | transcript | ENST00000358160.9 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GRHL1_chr2_9946693_10007277 | 9998577 | C | CATATATG others(239): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0185 | 1 | 418 | 0.0024 | 246 | c.167 others(263): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GRHL1_chr2_9946693_10007277 | 9998601 | T | TATATGTG others(239): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0188 | 1 | 418 | 0.0024 | 246 | c.167 others(263): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GRM7_chr3_6856115_7746533 | 7276785 | T | TCCTTCCT others(239): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02896.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0002others(3): Show | a0001c0001t0002g0029a0001c0001t0006g0010a0001c0002t0002g0042others(3): Show | 6 | 80 | 0.0750 | 246 | c.737 others(265): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GRTP1_chr13_113319163_113369130 | 113364447 | A | AGGGGCAG others(239): Show |
upstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 288 | 0.0035 | 246 | c.-39 others(255): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 318 | chr13 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106709684 | A | ATTATATA others(239): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0002 | 1 | 256 | 0.0039 | 246 | c.183 others(265): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106709709 | G | GTTATATA others(239): Show |
intron_variant | MODIFIER | HG01952.hp1 NA18971.hp1 NA18988.hp1 others(2): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0008t0070 | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0008others(2): Show | 5 | 256 | 0.0195 | 246 | c.183 others(265): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
| GZMM_chr19_539053_554922 | 550562 | A | ACTGTCAC others(239): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02451.hp2 others(17): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0004 | a0001c0001t0001a0001c0005t0001a0003c0004t0001 | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0001g0054others(11): Show | 20 | 398 | 0.0503 | 246 | c.*77 others(255): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 641 | chr19 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33322332 | A | AACATATA others(239): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0220 | 1 | 323 | 0.0031 | 246 | c.-27 others(257): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2637 | chr21 | TogoVar | ||||||
| IGSF21_chr1_18102798_18383483 | 18284880 | T | TAAAACCC others(239): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 248 | 0.0040 | 246 | c.184 others(263): Show |
IGSF21 | ENSG00000117154.12 | transcript | ENST00000251296.4 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| IL18R1_chr2_102350796_102403776 | 102352773 | A | ATATTTTA others(239): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 366 | 0.0027 | 246 | c.-36 others(257): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 3022 | chr2 | TogoVar | ||||||
| IL1RAPL2_chrX_104561199_105772829 | 105540818 | A | ACATATAT others(239): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 141 | 0.0071 | 246 | c.772 others(265): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL1RAPL2_chrX_104561199_105772829 | 105540818 | A | ACATATAT others(239): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 141 | 0.0071 | 246 | c.772 others(265): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IRAG2_chr12_25047706_25113335 | 25106550 | G | GTACAGTA others(239): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02004.hp1 HG02083.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0005 | a0003c0003t0002g0122a0003c0003t0002g0124a0003c0003t0002g0125others(2): Show | 5 | 344 | 0.0145 | 246 | c.114 others(263): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ITGA3_chr17_50051110_50095481 | 50086190 | T | TTATATAT others(239): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0336 | 1 | 402 | 0.0025 | 246 | c.292 others(265): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |