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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD16B_chr20_63856498_63867988 | 63866088 | A | ATTTC | downstream_gene_variant | MODIFIER | HG02071.hp1 HG02080.hp2 HG02451.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0017others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0017t0001others(3): Show | a0001c0001t0001g0000a0001c0004t0001g0000a0001c0017t0001g0000others(3): Show | 8 | 398 | 0.0201 | 4 | c.*31 others(15): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 3101 | chr20 | TogoVar | ||||||
ABHD17A_chr19_1871810_1890496 | 1886552 | G | GATAA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00639.hp2 others(100): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(25): Show | 103 | 416 | 0.2476 | 4 | c.-14 others(15): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 1057 | chr19 | TogoVar | ||||||
ABHD17B_chr9_71860152_71916193 | 71862293 | A | ATAAC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(170): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(139): Show | 173 | 186 | 0.9301 | 4 | c.*44 others(15): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 2858 | chr9 | TogoVar | ||||||
ABHD17B_chr9_71860152_71916193 | 71890107 | A | AAAAT | intron_variant | MODIFIER | HG01261.hp1 HG01981.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0068others(1): Show | 4 | 186 | 0.0215 | 4 | c.-3- others(21): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
ABHD17B_chr9_71860152_71916193 | 71896681 | A | AACAC | intron_variant | MODIFIER | HG01106.hp1 HG02723.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0028a0001c0001t0001g0083a0001c0001t0001g0084others(3): Show | 6 | 186 | 0.0323 | 4 | c.-4+ others(21): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
ABHD17B_chr9_71860152_71916193 | 71898638 | T | TCAAA | intron_variant | MODIFIER | HG02922.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119a0001c0001t0001g0120 | 2 | 186 | 0.0108 | 4 | c.-4+ others(21): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80713900 | C | CCACA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00642.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0125a0001c0001t0001g0132a0001c0001t0001g0133others(59): Show | 62 | 360 | 0.1722 | 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 | 80717271 | A | AAAAC | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01192.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0118a0001c0001t0001g0182a0001c0001t0001g0184others(12): Show | 15 | 360 | 0.0417 | 4 | c.590 others(23): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80719722 | G | GCTAT | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00733.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0033a0001c0001t0003g0321a0001c0001t0003g0325others(23): Show | 29 | 360 | 0.0806 | 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 | 80723138 | A | ATGTG | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp2 HG01106.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0159a0001c0001t0001g0168a0001c0001t0001g0186others(11): Show | 16 | 360 | 0.0444 | 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 | A | ATTAT | intron_variant | MODIFIER | HG02015.hp1 HG02080.hp2 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0167 | 3 | 360 | 0.0083 | 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 | 80739857 | G | GCTGT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(174): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0012others(158): Show | 177 | 360 | 0.4917 | 4 | 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 | 127960529 | A | AAAAT | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(61): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0001a0002c0002t0014a0002c0002t0020others(16): Show | a0002c0002t0001g0270a0002c0002t0001g0272a0002c0002t0001g0276others(61): Show | 64 | 344 | 0.1861 | 4 | c.-50 others(15): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4876 | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127961820 | C | CAAAA | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG02809.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0035a0001c0001t0036others(1): Show | a0001c0001t0022g0337a0001c0001t0022g0339a0001c0001t0022g0340others(5): Show | 8 | 344 | 0.0233 | 4 | c.-38 others(15): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 3585 | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127993856 | C | CTGAT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(84): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0022a0001c0001t0025a0001c0001t0035others(30): Show | a0001c0001t0022g0337a0001c0001t0022g0339a0001c0001t0022g0340others(84): Show | 87 | 344 | 0.2529 | 4 | c.278 others(21): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128008261 | C | CTTTT | intron_variant | MODIFIER | HG00621.hp2 NA18952.hp1 NA18978.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0014a0002c0002t0021others(2): Show | a0002c0002t0001g0276a0002c0002t0001g0316a0002c0002t0014g0309others(3): Show | 6 | 344 | 0.0174 | 4 | 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 | 128028308 | A | AATCC | intron_variant | MODIFIER | HG02055.hp1 HG02976.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0263a0001c0001t0025g0264a0001c0001t0025g0265 | 3 | 344 | 0.0087 | 4 | c.802 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 10/12 | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128039144 | C | CATAT | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00621.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0023a0001c0001t0045others(1): Show | a0001c0001t0008g0013a0001c0001t0008g0016a0001c0001t0008g0020others(16): Show | 19 | 344 | 0.0552 | 4 | c.*33 others(15): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 3373 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
ABHD1_chr2_27118815_27135812 | 27119844 | C | CAATA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG01167.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0032a0001c0001t0001g0105 | 18 | 400 | 0.0450 | 4 | c.-41 others(15): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 3970 | chr2 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89127706 | C | CATAT | intron_variant | MODIFIER | HG00280.hp1 HG02602.hp1 HG02735.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0014others(1): Show | a0001c0001t0001g0146a0001c0001t0011g0138a0001c0001t0014g0059others(1): Show | 4 | 234 | 0.0171 | 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 | 89127718 | T | TATAC | intron_variant | MODIFIER | HG02630.hp1 HG03139.hp1 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0038 | a0001c0001t0002g0039a0001c0001t0004g0045a0001c0001t0038g0078 | 3 | 234 | 0.0128 | 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 | 89127722 | C | CATAT | intron_variant | MODIFIER | HG00280.hp1 HG02602.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014 | a0001c0001t0001g0146a0001c0001t0004g0016a0001c0001t0014g0059 | 3 | 234 | 0.0128 | 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 | 89133834 | A | ATTTT | intron_variant | MODIFIER | HG01891.hp2 HG03579.hp1 HG03831.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0039others(1): Show | a0001c0001t0001g0088a0001c0001t0001g0179a0001c0001t0001g0196others(3): Show | 6 | 234 | 0.0256 | 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 | 89135144 | T | TTTTC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01081.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0028a0001c0001t0001g0060a0001c0001t0001g0158others(22): Show | 25 | 234 | 0.1068 | 4 | c.195 others(23): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89141132 | C | CTAAT | intron_variant | MODIFIER | HG02559.hp2 HG02735.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0021a0001c0001t0042 | a0001c0001t0011g0138a0001c0001t0021g0105a0001c0001t0021g0167others(1): Show | 4 | 234 | 0.0171 | 4 | c.195 others(23): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89146355 | C | CGTGT | intron_variant | MODIFIER | HG02647.hp2 HG02895.hp1 HG03041.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(1): Show | a0001c0001t0001g0022a0001c0001t0001g0108a0001c0001t0001g0182others(4): Show | 7 | 234 | 0.0299 | 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 | A | AACAC | intron_variant | MODIFIER | HG01109.hp1 HG01258.hp1 HG01884.hp1 others(18): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0098a0001c0001t0001g0103others(18): Show | 21 | 234 | 0.0897 | 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 | 89170080 | C | CTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00738.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0017a0001c0001t0001g0028a0001c0001t0001g0031others(29): Show | 32 | 234 | 0.1368 | 4 | c.539 others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89181228 | C | CAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(79): Show |
a0001 | a0001c0001a0001c0006a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0004a0001c0001t0001g0015a0001c0001t0001g0021others(79): Show | 82 | 234 | 0.3504 | 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 | 89205128 | T | TTCTC | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00738.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0006a0001c0001t0001g0022a0001c0001t0001g0028others(28): Show | 31 | 234 | 0.1325 | 4 | c.*97 others(15): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89206003 | A | AGGGG | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01891.hp1 HG01928.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0002g0024a0001c0001t0002g0038a0001c0001t0002g0223others(6): Show | 9 | 234 | 0.0385 | 4 | c.*10 others(17): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3649 | chr15 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21661102 | T | TAAAA | intron_variant | MODIFIER | HG00280.hp1 HG02735.hp1 HG02738.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0040a0001c0001t0001g0063a0001c0001t0001g0066others(4): Show | 7 | 304 | 0.0230 | 4 | c.669 others(21): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 5/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21670234 | G | GATGC | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00741.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0001g0125others(1): Show | 4 | 304 | 0.0132 | 4 | c.556 others(21): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21680854 | G | GTGTA | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG01884.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0117a0001c0001t0002g0150a0001c0001t0002g0166others(33): Show | 36 | 304 | 0.1184 | 4 | c.555 others(21): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21689549 | C | CAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(107): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0036a0001c0001t0001g0038a0001c0001t0001g0041others(106): Show | 110 | 304 | 0.3618 | 4 | c.510 others(21): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD4_chr14_22593300_22617963 | 22600829 | G | GGTGT | intron_variant | MODIFIER | HG00558.hp1 HG01192.hp2 HG03017.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0038a0001c0001t0001g0161a0001c0001t0001g0162others(5): Show | 10 | 424 | 0.0236 | 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 | 22600831 | G | GGTGT | intron_variant | MODIFIER | HG00558.hp2 HG02040.hp2 HG02080.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0036others(7): Show | 27 | 424 | 0.0637 | 4 | c.24- others(17): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD5_chr3_43685938_43727725 | 43715085 | C | CTGTG | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01515.hp2 others(28): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0052a0001c0001t0001g0065a0001c0001t0001g0080others(22): Show | 31 | 286 | 0.1084 | 4 | c.773 others(17): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58240731 | A | ATTTT | intron_variant | MODIFIER | HG00733.hp2 HG02027.hp2 HG02109.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0011 | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0016others(13): Show | 17 | 302 | 0.0563 | 4 | c.-91 others(21): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58245827 | A | AAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(260): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(253): Show | 263 | 302 | 0.8709 | 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 | 58256897 | G | GGTTT | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0001g0020others(4): Show | 7 | 302 | 0.0232 | 4 | c.119 others(19): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58264387 | G | GCACA | intron_variant | MODIFIER | HG01175.hp2 HG01496.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0263a0001c0001t0004g0039a0001c0001t0004g0041others(1): Show | 4 | 302 | 0.0133 | 4 | c.120 others(21): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58288613 | C | CACTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 4 | c.837 others(21): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD8_chr19_17287131_17308425 | 17295090 | A | ATTTT | intron_variant | MODIFIER | HG00323.hp1 HG01109.hp2 HG01361.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0221a0001c0001t0002g0127a0001c0001t0004g0023others(20): Show | 24 | 386 | 0.0622 | 4 | c.762 others(19): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17301776 | T | TTGTG | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00639.hp2 others(74): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0285a0001c0001t0002g0088a0001c0001t0002g0090others(60): Show | 77 | 386 | 0.1995 | 4 | c.-8- others(17): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26744374 | T | TTTTA | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG01071.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0044a0001c0001t0001g0045others(16): Show | 19 | 358 | 0.0531 | 4 | c.*41 others(15): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2221 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26746581 | A | AAGAT | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02622.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228a0001c0001t0002g0230a0001c0001t0002g0271 | 3 | 358 | 0.0084 | 4 | c.*19 others(15): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 14 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26750662 | C | CAACT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0013a0001c0001t0001g0028a0001c0001t0001g0029others(58): Show | 61 | 358 | 0.1704 | 4 | c.127 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 10/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761617 | C | CATAT | intron_variant | MODIFIER | HG00597.hp1 HG01975.hp1 HG01981.hp1 others(14): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0002g0022a0001c0001t0002g0145a0001c0001t0002g0148others(14): Show | 17 | 358 | 0.0475 | 4 | c.821 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761661 | T | TACAC | intron_variant | MODIFIER | HG02027.hp1 HG02622.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0132a0001c0001t0001g0161a0001c0001t0001g0235others(3): Show | 6 | 358 | 0.0168 | 4 | c.821 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar |