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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD17C_chr15_80690310_80760621 | 80713900 | C | CCA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(66): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0063 a0001c0001t0001g0116 a0001c0001t0001g0123 others(64): Show |
69 | 153 | 0.4510 | 2 | c.590 others(21): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80721213 | C | CTT | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00673.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(43): Show |
49 | 135 | 0.3630 | 2 | c.590 others(21): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80723138 | A | ATG | intron_variant | MODIFIER | HG02735.hp1 HG02818.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0159 a0001c0001t0002g0050 a0001c0001t0002g0052 |
3 | 186 | 0.0161 | 2 | c.591 others(21): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127961240 | T | TTG | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(84): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0022a0001c0001t0025a0001c0001t0035others(30): Show | a0001c0001t0022g0337 a0001c0001t0022g0339 a0001c0001t0022g0340 others(84): Show |
87 | 342 | 0.2544 | 2 | c.-43 others(13): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4165 | chr4 | TogoVar | |||||||
ABHD18_chr4_127960406_128044953 | 127961820 | C | CAA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00741.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0002g0222 a0001c0001t0002g0243 a0001c0001t0004g0178 others(4): Show |
7 | 196 | 0.0357 | 2 | c.-38 others(13): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 3585 | chr4 | TogoVar | |||||||
ABHD18_chr4_127960406_128044953 | 127966702 | C | CAA | intron_variant | MODIFIER | HG00099.hp2 HG01433.hp2 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0003g0007 a0001c0001t0005g0006 a0001c0001t0006g0009 others(6): Show |
9 | 58 | 0.1552 | 2 | c.-18 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127971482 | C | CTT | intron_variant | MODIFIER | HG02015.hp2 HG02572.hp1 HG02723.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0003g0064 a0001c0001t0003g0127 a0001c0001t0005g0006 others(3): Show |
6 | 90 | 0.0667 | 2 | c.-18 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127972520 | C | CTT | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp2 HG02109.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0018a0001c0001t0043others(4): Show | a0001c0001t0015g0063 a0001c0001t0015g0099 a0001c0001t0018g0024 others(9): Show |
12 | 119 | 0.1008 | 2 | c.-18 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127973817 | C | CAA | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00609.hp1 others(52): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(21): Show | a0001c0001t0003g0026 a0001c0001t0003g0065 a0001c0001t0003g0069 others(52): Show |
55 | 255 | 0.2157 | 2 | c.-18 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127974188 | G | GTT | intron_variant | MODIFIER | HG01106.hp1 NA18950.hp1 NA18959.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0003g0021 a0001c0001t0003g0046 a0001c0001t0003g0101 others(4): Show |
7 | 233 | 0.0300 | 2 | c.-18 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127974997 | C | CAA | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00738.hp1 others(41): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(25): Show | a0001c0001t0002g0220 a0001c0001t0003g0043 a0001c0001t0005g0018 others(41): Show |
44 | 126 | 0.3492 | 2 | c.-17 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127979915 | C | CAA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp2 others(42): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(18): Show | a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 others(42): Show |
45 | 225 | 0.2000 | 2 | c.-17 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127998281 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0016others(8): Show | a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 others(34): Show |
37 | 320 | 0.1156 | 2 | c.278 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128007328 | T | TAA | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02451.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0022a0001c0001t0035a0001c0001t0036others(3): Show | a0001c0001t0022g0337 a0001c0001t0022g0339 a0001c0001t0022g0340 others(8): Show |
11 | 320 | 0.0344 | 2 | c.279 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128008261 | C | CTT | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00609.hp1 others(42): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(24): Show | a0001c0001t0003g0050 a0001c0001t0006g0163 a0001c0001t0008g0080 others(42): Show |
45 | 179 | 0.2514 | 2 | c.279 others(17): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128010904 | C | CAA | intron_variant | MODIFIER | HG01358.hp2 HG01891.hp2 HG01978.hp2 others(34): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0015a0001c0001t0018a0001c0001t0022others(21): Show | a0001c0001t0015g0027 a0001c0001t0018g0024 a0001c0001t0018g0033 others(34): Show |
37 | 216 | 0.1713 | 2 | c.443 others(17): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128039112 | G | GTA | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02622.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0034a0003c0003t0059a0003c0003t0060 | a0003c0003t0034g0134 a0003c0003t0034g0136 a0003c0003t0059g0135 others(1): Show |
4 | 341 | 0.0117 | 2 | c.*33 others(13): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 3309 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128039144 | C | CAT | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00741.hp1 HG01081.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0017a0001c0001t0041others(3): Show | a0001c0001t0005g0006 a0001c0001t0005g0018 a0001c0001t0005g0022 others(24): Show |
27 | 66 | 0.4091 | 2 | c.*33 others(13): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 3373 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD1_chr2_27118815_27135812 | 27126945 | C | CAA | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG01167.hp2 others(34): Show |
a0001a0009 | a0001c0001a0009c0013 | a0001c0001t0001a0001c0001t0002a0009c0013t0001 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(10): Show |
37 | 75 | 0.4933 | 2 | c.115 others(19): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABHD1_chr2_27118815_27135812 | 27127236 | C | CTT | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG01069.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0051 others(8): Show |
17 | 245 | 0.0694 | 2 | c.115 others(19): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABHD1_chr2_27118815_27135812 | 27127553 | C | CAA | intron_variant | MODIFIER | HG01358.hp1 HG01884.hp1 HG01934.hp2 others(11): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0026 a0001c0001t0001g0051 a0001c0001t0001g0074 others(8): Show |
14 | 40 | 0.3500 | 2 | c.115 others(17): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABHD1_chr2_27118815_27135812 | 27135138 | C | CAA | downstream_gene_variant | MODIFIER | HG03490.hp2 HG03492.hp1 HG03927.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0088 |
6 | 309 | 0.0194 | 2 | c.*43 others(13): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 4327 | chr2 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89095063 | C | CAA | intron_variant | MODIFIER | HG01109.hp1 HG02922.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0008a0001c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(3): Show | a0001c0001t0001g0029 a0001c0001t0004g0226 a0001c0001t0011g0033 others(3): Show |
6 | 178 | 0.0337 | 2 | c.-10 others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89111941 | T | TTA | intron_variant | MODIFIER | HG01243.hp2 HG02040.hp2 HG02145.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0091 others(13): Show |
16 | 232 | 0.0690 | 2 | c.-10 others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89112857 | G | GAC | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG01891.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 others(8): Show |
11 | 232 | 0.0474 | 2 | c.-10 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89133834 | A | ATT | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02145.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0072 a0001c0001t0001g0096 others(13): Show |
16 | 132 | 0.1212 | 2 | c.194 others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89133850 | T | TTG | intron_variant | MODIFIER | HG01952.hp1 HG02109.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0148 others(6): Show |
9 | 232 | 0.0388 | 2 | c.194 others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89136092 | A | ATT | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp1 HG01081.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0020 others(37): Show |
40 | 219 | 0.1826 | 2 | c.195 others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89146355 | C | CGT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01070.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0138 a0001c0001t0001g0204 a0001c0001t0001g0212 others(12): Show |
15 | 49 | 0.3061 | 2 | c.195 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89149214 | A | AAC | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0018a0001c0001t0041a0001c0002t0023others(1): Show | a0001c0001t0018g0037 a0001c0001t0041g0011 a0001c0002t0023g0111 others(1): Show |
4 | 87 | 0.0460 | 2 | c.195 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89156721 | G | GAA | intron_variant | MODIFIER | HG01109.hp1 HG01361.hp1 HG02055.hp1 others(4): Show |
a0001 | a0001c0001a0001c0007a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0025a0001c0007t0007others(2): Show | a0001c0001t0001g0048 a0001c0001t0001g0094 a0001c0001t0001g0216 others(4): Show |
7 | 122 | 0.0574 | 2 | c.538 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89156771 | T | TTG | intron_variant | MODIFIER | HG01109.hp1 HG02922.hp1 NA20129.hp1 |
a0001 | a0001c0007a0001c0008a0001c0009 | a0001c0007t0007a0001c0008t0001a0001c0009t0012 | a0001c0007t0007g0224 a0001c0008t0001g0227 a0001c0009t0012g0028 |
3 | 232 | 0.0129 | 2 | c.538 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89181228 | C | CAA | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01891.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0016others(7): Show | a0001c0001t0003g0053 a0001c0001t0003g0139 a0001c0001t0008g0012 others(15): Show |
18 | 61 | 0.2951 | 2 | c.723 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89183382 | A | AAT | intron_variant | MODIFIER | HG00741.hp1 HG02735.hp2 HG02922.hp1 others(7): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0029a0001c0009t0012 | a0001c0001t0001g0020 a0001c0001t0001g0087 a0001c0001t0001g0088 others(7): Show |
10 | 178 | 0.0562 | 2 | c.723 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89183384 | A | AAT | intron_variant | MODIFIER | HG01361.hp1 HG02293.hp1 HG02602.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025a0001c0001t0043 | a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0086 others(5): Show |
8 | 98 | 0.0816 | 2 | c.723 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89205128 | T | TTC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG01891.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0133 others(8): Show |
11 | 58 | 0.1897 | 2 | c.*97 others(13): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89205331 | C | CTT | downstream_gene_variant | MODIFIER | HG01361.hp2 HG01884.hp1 HG02055.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0002g0057 a0001c0001t0004g0092 a0001c0001t0008g0012 others(6): Show |
9 | 172 | 0.0523 | 2 | c.*99 others(13): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2977 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89206003 | A | AGG | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01099.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0035others(1): Show | a0001c0001t0002g0063 a0001c0001t0002g0078 a0001c0001t0002g0121 others(6): Show |
9 | 106 | 0.0849 | 2 | c.*10 others(15): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3649 | chr15 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21648788 | C | CAA | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01952.hp1 HG02074.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0002g0147 others(10): Show |
13 | 178 | 0.0730 | 2 | c.*28 others(13): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 2112 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21650441 | A | ATT | downstream_gene_variant | MODIFIER | HG02723.hp2 HG02818.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 others(1): Show |
4 | 302 | 0.0132 | 2 | c.*11 others(13): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 459 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21659656 | T | TAG | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00735.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0063 others(29): Show |
33 | 302 | 0.1093 | 2 | c.669 others(17): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 5/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21661102 | T | TAA | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp2 HG01243.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0121 a0001c0001t0002g0005 others(17): Show |
22 | 122 | 0.1803 | 2 | c.669 others(19): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 5/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21674228 | T | TTC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(170): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0037 others(168): Show |
173 | 302 | 0.5728 | 2 | c.555 others(19): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21680852 | A | ATG | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01106.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(13): Show |
17 | 282 | 0.0603 | 2 | c.555 others(19): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21680856 | G | GTA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(125): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(124): Show |
128 | 302 | 0.4238 | 2 | c.555 others(19): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21684311 | C | CTT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00741.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0107 others(23): Show |
27 | 137 | 0.1971 | 2 | c.510 others(17): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21690996 | C | CAA | intron_variant | MODIFIER | HG01952.hp2 HG02258.hp1 HG02280.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0106 a0001c0001t0001g0135 a0001c0001t0002g0146 others(8): Show |
11 | 245 | 0.0449 | 2 | c.510 others(19): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21700827 | C | CAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(38): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0032 others(37): Show |
41 | 136 | 0.3015 | 2 | c.509 others(19): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21700952 | C | CAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(35): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0001t0001g0107 others(34): Show |
38 | 142 | 0.2676 | 2 | c.509 others(19): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21703218 | A | ACC | intron_variant | MODIFIER | HG01070.hp2 HG01106.hp1 HG01169.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(14): Show |
18 | 185 | 0.0973 | 2 | c.326 others(17): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 2/8 | chr18 | TogoVar |