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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD17A_chr19_1871810_1890496 | 1874746 | CAAAA | C | downstream_gene_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00673.hp1 others(54): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(19): Show |
57 | 116 | 0.4914 | -4 | c.*24 others(15): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 2063 | chr19 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1876935 | CGAGA | C | 3_prime_UTR_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0017 a0001c0001t0004g0026 a0001c0001t0008g0080 |
6 | 414 | 0.0145 | -4 | c.*26 others(13): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 5/5 | 261 | chr19 | TogoVar | ||||||
ABHD17A_chr19_1871810_1890496 | 1877017 | TCTTG | T | 3_prime_UTR_variant | MODIFIER | HG01169.hp2 HG01192.hp2 HG01243.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0050 others(1): Show |
36 | 414 | 0.0870 | -4 | c.*17 others(13): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 5/5 | 179 | chr19 | TogoVar | ||||||
ABHD17A_chr19_1871810_1890496 | 1886552 | GATAA | G | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01169.hp1 HG01192.hp1 others(22): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0002c0002t0001a0005c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(7): Show |
25 | 293 | 0.0853 | -4 | c.-14 others(15): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 1057 | chr19 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71862701 | TAAGA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(170): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(141): Show |
173 | 184 | 0.9402 | -4 | c.*40 others(15): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 2450 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71864208 | ACTTT | A | downstream_gene_variant | MODIFIER | HG02559.hp1 HG03195.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 |
3 | 184 | 0.0163 | -4 | c.*25 others(15): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 943 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71889778 | AAAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00733.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0027 others(25): Show |
31 | 184 | 0.1685 | -4 | c.-3- others(21): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71890107 | AAAAT | A | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG02258.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0147 a0001c0001t0002g0006 a0001c0001t0002g0019 others(8): Show |
13 | 179 | 0.0726 | -4 | c.-3- others(21): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71900652 | CAAAA | C | intron_variant | MODIFIER | HG03927.hp2 HG06807.hp2 NA18946.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013 | a0001c0001t0001g0005 a0001c0001t0001g0052 a0001c0001t0003g0148 others(1): Show |
6 | 20 | 0.3000 | -4 | c.-4+ others(19): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71906066 | ATAAG | A | intron_variant | MODIFIER | HG02258.hp1 HG02970.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 3 | 184 | 0.0163 | -4 | c.-4+ others(19): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80694298 | TATAA | T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00609.hp1 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(66): Show |
71 | 358 | 0.1983 | -4 | c.-11 others(15): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1011 | chr15 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80708319 | TTTTG | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0002g0006 a0001c0001t0002g0074 a0001c0001t0002g0076 others(52): Show |
58 | 358 | 0.1620 | -4 | c.590 others(23): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80713900 | CCACA | C | intron_variant | MODIFIER | HG00438.hp2 HG02129.hp2 HG02523.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0239 a0001c0001t0001g0241 others(9): Show |
13 | 97 | 0.1340 | -4 | c.590 others(23): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80723136 | ATATG | A | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp2 HG02572.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0249 a0001c0001t0001g0311 others(15): Show |
20 | 298 | 0.0671 | -4 | c.591 others(23): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80725812 | TTTTG | T | intron_variant | MODIFIER | HG02886.hp2 HG03209.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0063 a0001c0001t0002g0033 a0001c0001t0005g0180 |
3 | 141 | 0.0213 | -4 | c.591 others(23): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80728519 | TGATA | T | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp2 HG01106.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0002g0001 others(8): Show |
14 | 358 | 0.0391 | -4 | c.591 others(23): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80733960 | ATTAT | A | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp2 HG01106.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0014 a0001c0001t0001g0064 a0001c0001t0001g0167 others(26): Show |
33 | 56 | 0.5893 | -4 | c.591 others(23): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80738832 | GAACA | G | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp2 HG02572.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0028 others(6): Show |
9 | 358 | 0.0251 | -4 | c.591 others(23): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127966702 | CAAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG00738.hp1 others(36): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0004 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(13): Show | a0001c0001t0004g0161 a0001c0001t0004g0175 a0001c0001t0004g0177 others(36): Show |
39 | 88 | 0.4432 | -4 | c.-18 others(21): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127972520 | CTTTT | C | intron_variant | MODIFIER | HG01168.hp2 HG01891.hp2 HG02109.hp2 others(12): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0022a0001c0001t0027a0001c0001t0035others(6): Show | a0001c0001t0022g0337 a0001c0001t0022g0339 a0001c0001t0022g0340 others(12): Show |
15 | 122 | 0.1230 | -4 | c.-18 others(21): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127981403 | ATAGT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp2 others(31): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(10): Show | a0001c0001t0002g0129 a0001c0001t0002g0194 a0001c0001t0002g0195 others(31): Show |
34 | 342 | 0.0994 | -4 | c.-17 others(21): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128011600 | CTATT | C | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0018 | a0001c0001t0015g0063 a0001c0001t0015g0098 a0001c0001t0018g0024 |
3 | 342 | 0.0088 | -4 | 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 | 128035109 | ATAAT | A | intron_variant | MODIFIER | HG02055.hp1 HG02976.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0263 a0001c0001t0025g0264 a0001c0001t0025g0265 |
3 | 342 | 0.0088 | -4 | c.134 others(21): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128037118 | CAAAA | C | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(56): Show |
a0002a0003a0006 | a0002c0002a0003c0003a0006c0007 | a0002c0002t0001a0002c0002t0014a0002c0002t0020others(12): Show | a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0276 others(56): Show |
59 | 263 | 0.2243 | -4 | c.*13 others(15): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 1329 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128039085 | CGTAT | C | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02486.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0034a0003c0003t0058a0003c0003t0059others(1): Show | a0003c0003t0034g0134 a0003c0003t0034g0136 a0003c0003t0058g0344 others(2): Show |
5 | 342 | 0.0146 | -4 | c.*32 others(15): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 3275 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128039144 | CATAT | C | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG01243.hp2 others(29): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0006a0001c0001t0009a0001c0001t0024others(5): Show | a0001c0001t0006g0009 a0001c0001t0006g0012 a0001c0001t0006g0028 others(29): Show |
32 | 71 | 0.4507 | -4 | c.*33 others(15): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 3369 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD1_chr2_27118815_27135812 | 27119228 | CGTGA | C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02615.hp1 HG02922.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0041 others(1): Show |
4 | 397 | 0.0101 | -4 | c.-47 others(15): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 4586 | chr2 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89115370 | ATGTG | A | intron_variant | MODIFIER | HG01952.hp1 HG02145.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0002g0150 others(2): Show |
5 | 100 | 0.0500 | -4 | c.-6- others(17): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89123593 | CTTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02145.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0002g0003 others(9): Show |
12 | 118 | 0.1017 | -4 | 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 | 89130073 | CAATG | C | intron_variant | MODIFIER | HG02258.hp2 HG02630.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0032 | a0001c0001t0016g0067 a0001c0001t0016g0146 a0001c0001t0032g0228 |
3 | 232 | 0.0129 | -4 | c.194 others(23): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89146355 | CGTGT | C | intron_variant | MODIFIER | HG00544.hp1 HG01109.hp1 HG01361.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0202 a0001c0001t0001g0217 a0001c0001t0003g0050 others(9): Show |
12 | 46 | 0.2609 | -4 | 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 | 89149214 | AACAC | A | intron_variant | MODIFIER | HG02717.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0040 | a0001c0001t0018g0034 a0001c0001t0040g0010 |
2 | 85 | 0.0235 | -4 | 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 | 89164474 | TGAGA | T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(106): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0016 others(105): Show |
109 | 232 | 0.4698 | -4 | c.538 others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89175703 | TTCTC | T | intron_variant | MODIFIER | HG02965.hp2 HG03453.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 a0001c0001t0004g0017 a0001c0001t0004g0090 |
3 | 232 | 0.0129 | -4 | c.539 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89183368 | CAAAA | C | intron_variant | MODIFIER | HG01258.hp1 HG02723.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0085 a0001c0001t0006g0156 a0001c0001t0006g0165 others(2): Show |
5 | 212 | 0.0236 | -4 | c.723 others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89203286 | CAAAA | C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02615.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0018a0001c0001t0032others(2): Show | a0001c0001t0013g0095 a0001c0001t0013g0149 a0001c0001t0013g0153 others(5): Show |
8 | 219 | 0.0365 | -4 | c.*78 others(15): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 932 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89204444 | GTTAT | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(199): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(198): Show |
202 | 232 | 0.8707 | -4 | c.*90 others(15): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2090 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89205128 | TTCTC | T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02109.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0031 a0001c0001t0001g0069 a0001c0001t0001g0159 others(14): Show |
17 | 64 | 0.2656 | -4 | c.*97 others(15): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89206692 | AAAAT | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0025 a0001c0001t0002g0039 a0001c0001t0002g0040 others(79): Show |
82 | 232 | 0.3534 | -4 | c.*11 others(17): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 4338 | chr15 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21650998 | AAGTT | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG04115.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0151 a0001c0001t0006g0154 a0001c0001t0006g0198 |
3 | 302 | 0.0099 | -4 | c.*58 others(13): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 9/9 | 589 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21700827 | CAAAA | C | intron_variant | MODIFIER | HG01243.hp2 HG01975.hp1 HG02257.hp2 others(20): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 others(20): Show |
23 | 118 | 0.1949 | -4 | c.509 others(21): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21702158 | AAAAG | A | intron_variant | MODIFIER | HG01952.hp2 HG02451.hp1 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(2): Show | a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0007g0285 others(6): Show |
9 | 302 | 0.0298 | -4 | c.509 others(19): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD4_chr14_22593300_22617963 | 22600829 | GGGGT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(70): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0023 others(23): Show |
73 | 261 | 0.2797 | -4 | c.24- others(17): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD4_chr14_22593300_22617963 | 22608999 | TGTTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(109): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014 | a0001c0001t0001g0076 a0001c0001t0002g0002 a0001c0001t0002g0003 others(41): Show |
112 | 422 | 0.2654 | -4 | c.753 others(19): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43715085 | CTGTG | C | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01496.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0047 a0001c0001t0001g0080 others(11): Show |
19 | 65 | 0.2923 | -4 | c.773 others(17): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43715152 | CTATT | C | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0030 | a0001c0001t0006g0030 a0001c0001t0006g0145 a0001c0001t0006g0146 others(2): Show |
6 | 284 | 0.0211 | -4 | c.773 others(19): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58245784 | AAAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00735.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0014 a0001c0001t0001g0154 a0001c0001t0001g0234 others(32): Show |
35 | 300 | 0.1167 | -4 | c.-90 others(21): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58254851 | TACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp1 others(117): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0014 a0001c0001t0001g0140 a0001c0001t0001g0154 others(115): Show |
120 | 165 | 0.7273 | -4 | c.-25 others(21): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58256106 | CACAT | C | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG02027.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0081 a0001c0001t0002g0106 others(2): Show |
5 | 300 | 0.0167 | -4 | c.-25 others(19): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58264387 | GCACA | G | intron_variant | MODIFIER | HG01081.hp2 HG01123.hp2 HG02148.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0002g0112 a0001c0001t0004g0029 a0001c0001t0004g0033 others(7): Show |
10 | 63 | 0.1587 | -4 | c.120 others(21): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |