view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AAK1_chr2_69452997_69648739 | 69506868 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0119 | a0001c0001t0119g0188 | 1 | 64 | 0.0156 | 12 | c.216 others(29): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 15/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69640014 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18963.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0020a0002c0002t0004 | a0001c0001t0020g0192 a0002c0002t0004g0193 |
2 | 186 | 0.0108 | 12 | c.163 others(29): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69640053 | A | ACACACAC others(5): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0016 | a0002c0016t0129 | a0002c0016t0129g0272 | 1 | 184 | 0.0054 | 12 | c.163 others(29): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69640053 | A | ACACACTC others(5): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03516.hp1 |
a0001a0003 | a0001c0001a0003c0014 | a0001c0001t0113a0003c0014t0025 | a0001c0001t0113g0185 a0003c0014t0025g0290 |
2 | 185 | 0.0108 | 12 | c.163 others(29): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69644165 | T | TTCGCGCC others(5): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0113 | a0001c0001t0113g0185 | 1 | 29 | 0.0345 | 12 | c.-82 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 427 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69647388 | T | TTTTATTT others(5): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 NA19240.hp2 |
a0001 | a0001c0004a0001c0009 | a0001c0004t0063a0001c0009t0136 | a0001c0004t0063g0069 a0001c0009t0136g0191 |
2 | 75 | 0.0267 | 12 | c.-40 others(23): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3650 | chr2 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77852224 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 4 | 0.2500 | 12 | c.132 others(29): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77858302 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 197 | 0.0051 | 12 | c.133 others(31): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77858403 | C | CGGCTCGA others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(82): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 others(79): Show |
85 | 380 | 0.2237 | 12 | c.133 others(31): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AANAT_chr17_76462603_76475117 | 76470091 | G | GAGATAAG others(5): Show |
3_prime_UTR_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 424 | 0.0024 | 12 | c.*12 others(21): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 4/4 | 134 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AAR2_chr20_36231478_36261933 | 36232816 | C | CCTCTCTC others(5): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 HG03471.hp1 NA19030.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0009 a0001c0002t0002g0167 |
3 | 150 | 0.0200 | 12 | c.-37 others(23): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3661 | chr20 | TogoVar | |||||||
AAR2_chr20_36231478_36261933 | 36258142 | T | TACACACA others(5): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01261.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0073 a0001c0002t0001g0009 a0001c0002t0001g0036 others(4): Show |
7 | 40 | 0.1750 | 12 | c.*23 others(23): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1210 | chr20 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70272889 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01243.hp1 others(21): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0005 | a0001c0001t0001a0001c0001t0002a0002c0004t0001others(1): Show | a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0042 others(21): Show |
24 | 117 | 0.2051 | 12 | c.480 others(27): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70275936 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02896.hp2 HG02922.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0349 a0002c0004t0001g0354 a0002c0004t0001g0356 |
3 | 143 | 0.0210 | 12 | c.479 others(27): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70293597 | A | ATTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0002 a0001c0002t0004g0150 a0001c0002t0004g0151 |
3 | 92 | 0.0326 | 12 | c.-42 others(23): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4092 | chr16 | TogoVar | |||||||
AARS2_chr6_44293731_44318347 | 44313696 | C | CGTGTGTG others(5): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 HG03209.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0008 a0001c0002t0002g0006 a0001c0002t0002g0095 |
3 | 253 | 0.0119 | 12 | c.-37 others(21): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 350 | chr6 | TogoVar | |||||||
AARS2_chr6_44293731_44318347 | 44314201 | G | GCTCATGG others(5): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 2 | 394 | 0.0051 | 12 | c.-87 others(21): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 855 | chr6 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56341389 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG03471.hp1 NA20129.hp2 NA20300.hp2 |
a0003a0018 | a0003c0003a0018c0014 | a0003c0003t0002a0018c0014t0001 | a0003c0003t0002g0256 a0003c0003t0002g0293 a0018c0014t0001g0282 |
3 | 81 | 0.0370 | 12 | c.290 others(31): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56381649 | T | TCACACAC others(5): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0226 | 1 | 121 | 0.0083 | 12 | c.351 others(27): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56381649 | T | TCTCACAC others(5): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01891.hp2 HG02080.hp1 others(23): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0002others(5): Show | a0001c0001t0001g0125 a0002c0002t0001g0201 a0002c0002t0001g0202 others(21): Show |
26 | 146 | 0.1781 | 12 | c.351 others(27): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56381649 | T | TCTCTCAC others(5): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033 | 1 | 121 | 0.0083 | 12 | c.351 others(27): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | chr4 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37001395 | A | AGGAGGGA others(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00639.hp2 others(21): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0003c0005t0001 | a0001c0001t0001g0096 a0001c0001t0001g0242 a0001c0001t0002g0001 others(20): Show |
24 | 211 | 0.1137 | 12 | c.139 others(33): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37001405 | G | GAGGAAGG others(5): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18992.hp1 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0067 a0001c0001t0001g0203 a0001c0001t0006g0222 |
3 | 118 | 0.0254 | 12 | c.139 others(33): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37001405 | G | GAGGGAGG others(5): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00738.hp1 HG00738.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0088 others(9): Show |
12 | 127 | 0.0945 | 12 | c.139 others(33): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37001405 | G | GAGGGAGG others(5): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 116 | 0.0086 | 12 | c.139 others(33): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37014267 | G | GTAATAAT others(5): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0074 |
2 | 146 | 0.0137 | 12 | c.139 others(31): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37022113 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0013 | 1 | 88 | 0.0114 | 12 | c.154 others(31): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37046730 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03209.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0105 a0001c0003t0001g0034 |
2 | 102 | 0.0196 | 12 | c.162 others(31): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37058147 | G | GTATTTAT others(5): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 HG02486.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0004 | a0001c0002t0002g0238 a0001c0003t0004g0046 |
2 | 158 | 0.0127 | 12 | c.*14 others(23): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 1277 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81116462 | G | GGCCCCAG others(5): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0006 | a0006c0056 | a0006c0056t0001 | a0006c0056t0001g0332 | 1 | 298 | 0.0034 | 12 | c.*19 others(23): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 832 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8673396 | C | CTGTGTGT others(5): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG01192.hp1 HG03195.hp1 |
a0001a0002 | a0001c0003a0002c0002a0002c0006 | a0001c0003t0001a0002c0002t0006a0002c0006t0003 | a0001c0003t0001g0235 a0002c0002t0006g0237 a0002c0006t0003g0022 |
3 | 120 | 0.0250 | 12 | c.-13 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1220 | chr16 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8682186 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG01099.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0015 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0051 a0001c0001t0002g0050 a0002c0002t0002g0018 others(1): Show |
4 | 209 | 0.0191 | 12 | c.-42 others(29): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8707353 | A | ATTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02723.hp2 others(2): Show |
a0002a0006 | a0002c0002a0002c0006a0002c0017others(1): Show | a0002c0002t0003a0002c0002t0034a0002c0006t0002others(2): Show | a0002c0002t0003g0304 a0002c0002t0034g0040 a0002c0006t0002g0132 others(2): Show |
5 | 107 | 0.0467 | 12 | c.-41 others(31): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8710694 | C | CAGAGAGA others(5): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0214 | 1 | 43 | 0.0233 | 12 | c.-41 others(31): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8710727 | A | AGAGAGAG others(5): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03834.hp1 HG04115.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0003t0036 | a0001c0001t0002g0138 a0001c0001t0004g0126 a0001c0003t0036g0150 |
3 | 104 | 0.0288 | 12 | c.-41 others(31): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8710727 | A | AGGGAGAG others(5): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02027.hp2 HG02735.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0221 a0001c0001t0002g0220 a0001c0001t0005g0075 others(3): Show |
6 | 107 | 0.0561 | 12 | c.-41 others(31): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8711762 | A | AGATGGAT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(59): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0021others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0119 others(59): Show |
62 | 360 | 0.1722 | 12 | c.-41 others(31): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8711810 | G | GGATGGAT others(5): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02145.hp2 HG02630.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0002a0001c0003t0003a0002c0004t0001others(3): Show | a0001c0001t0002g0140 a0001c0001t0002g0255 a0001c0003t0003g0345 others(5): Show |
8 | 109 | 0.0734 | 12 | c.-41 others(31): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8723809 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG02165.hp1 HG03453.hp1 NA19066.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0002a0002c0004t0003 | a0002c0002t0001g0292 a0002c0004t0002g0310 a0002c0004t0003g0189 |
3 | 310 | 0.0097 | 12 | c.-41 others(31): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8733051 | T | TGGGGCGG others(5): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02559.hp2 HG02572.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0233 a0001c0001t0002g0354 a0001c0001t0003g0041 others(4): Show |
7 | 360 | 0.0194 | 12 | c.-41 others(29): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8735046 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03130.hp2 NA19240.hp1 |
a0002 | a0002c0007 | a0002c0007t0003a0002c0007t0007a0002c0007t0011 | a0002c0007t0003g0005 a0002c0007t0007g0242 a0002c0007t0011g0004 |
3 | 129 | 0.0233 | 12 | c.-41 others(27): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737484 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0215 | 1 | 42 | 0.0238 | 12 | c.70+ others(27): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737941 | A | AAAGGAAG others(5): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0099 | 1 | 355 | 0.0028 | 12 | c.70+ others(27): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGAAAG others(5): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0303 | 1 | 72 | 0.0139 | 12 | c.70+ others(27): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGGAAG others(5): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0287 | 1 | 72 | 0.0139 | 12 | c.70+ others(27): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743423 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | NA18955.hp1 NA18975.hp1 NA19007.hp1 |
a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0109 a0002c0006t0002g0132 a0002c0006t0002g0156 |
3 | 276 | 0.0109 | 12 | c.71- others(27): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743441 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG03453.hp1 HG06807.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 a0002c0002t0001g0292 |
2 | 349 | 0.0057 | 12 | c.71- others(27): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8754662 | A | ATTTCTTT others(5): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0311 | 1 | 21 | 0.0476 | 12 | c.317 others(29): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8773105 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00738.hp1 others(33): Show |
a0001a0002 | a0001c0003a0001c0021a0001c0023others(3): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(14): Show | a0001c0003t0001g0090 a0001c0003t0001g0228 a0001c0003t0001g0247 others(33): Show |
36 | 63 | 0.5714 | 12 | c.954 others(27): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8773147 | C | CACACACA others(5): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0002 | a0002c0002t0045 | a0002c0002t0045g0306 | 1 | 325 | 0.0031 | 12 | c.954 others(27): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |