| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD18_chr4_127960406_128044953 | 127966702 | CA | C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02015.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0011others(7): Show | a0001c0001t0003g0119a0001c0001t0003g0125a0001c0001t0003g0127others(11): Show | 14 | 344 | 0.0407 | -1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 127969204 | CT | C | intron_variant | MODIFIER | HG01515.hp2 HG01891.hp2 HG02109.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0011a0001c0001t0022others(10): Show | a0001c0001t0003g0043a0001c0001t0011g0102a0001c0001t0022g0337others(16): Show | 19 | 344 | 0.0552 | -1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 127970589 | CA | C | intron_variant | MODIFIER | HG01515.hp2 HG01943.hp1 HG02257.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0001a0001c0001t0003g0042a0001c0001t0003g0226others(8): Show | 11 | 344 | 0.0320 | -1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 127971254 | CA | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(55): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0001a0002c0002t0014a0002c0002t0020others(14): Show | a0002c0002t0001g0270a0002c0002t0001g0272a0002c0002t0001g0276others(55): Show | 58 | 344 | 0.1686 | -1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 127971482 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00621.hp2 others(82): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(42): Show | a0001c0001t0002g0194a0001c0001t0002g0195a0001c0001t0002g0198others(82): Show | 85 | 344 | 0.2471 | -1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 127972520 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(37): Show | a0001c0001t0002g0194a0001c0001t0002g0195a0001c0001t0002g0198others(123): Show | 126 | 344 | 0.3663 | -1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 127973817 | CA | C | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01496.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0001c0001t0008a0001c0001t0061others(5): Show | a0001c0001t0004g0154a0001c0001t0004g0201a0001c0001t0008g0133others(7): Show | 10 | 344 | 0.0291 | -1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 127974188 | GT | G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(60): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0013a0001c0001t0019a0001c0001t0040others(19): Show | a0001c0001t0013g0237a0001c0001t0019g0106a0001c0001t0040g0029others(60): Show | 63 | 344 | 0.1831 | -1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 127977773 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(64): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0003a0001c0001t0008a0002c0002t0001others(18): Show | a0001c0001t0003g0113a0001c0001t0008g0013a0002c0002t0001g0270others(64): Show | 67 | 344 | 0.1948 | -1 | c.-17 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 127979915 | CA | C | intron_variant | MODIFIER | HG02976.hp2 HG03041.hp1 NA18959.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0003g0046a0001c0001t0006g0095a0001c0001t0008g0025others(3): Show | 6 | 344 | 0.0174 | -1 | c.-17 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 127980601 | AT | A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00609.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(3): Show | a0001c0001t0002g0218a0001c0001t0002g0220a0001c0001t0002g0229others(12): Show | 15 | 344 | 0.0436 | -1 | c.-17 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
| ABHD18_chr4_127960406_128044953 | 127980825 | CA | C | intron_variant | MODIFIER | HG01256.hp1 HG01496.hp2 HG02055.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0025a0001c0001t0061others(2): Show | a0001c0001t0016g0235a0001c0001t0025g0263a0001c0001t0025g0265others(3): Show | 6 | 344 | 0.0174 | -1 | c.-17 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 127984043 | GA | G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(59): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0012a0002c0002t0001a0002c0002t0014others(19): Show | a0001c0001t0012g0159a0002c0002t0001g0270a0002c0002t0001g0272others(59): Show | 62 | 344 | 0.1802 | -1 | c.93- others(7): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 127986688 | AT | A | intron_variant | MODIFIER | HG00735.hp2 HG02717.hp1 HG02723.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0018a0001c0001t0046others(4): Show | a0001c0001t0015g0099a0001c0001t0018g0008a0001c0001t0018g0033others(8): Show | 11 | 344 | 0.0320 | -1 | c.177 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 3/12 | chr4 | TogoVar | ||||||
| ABHD18_chr4_127960406_128044953 | 127987706 | CA | C | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02486.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0065a0003c0003t0034a0003c0003t0048others(3): Show | a0001c0001t0065g0334a0003c0003t0034g0134a0003c0003t0034g0136others(4): Show | 7 | 344 | 0.0204 | -1 | c.178 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 127987718 | AT | A | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02630.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0035a0001c0001t0036others(1): Show | a0001c0001t0022g0337a0001c0001t0022g0339a0001c0001t0022g0340others(6): Show | 9 | 344 | 0.0262 | -1 | c.178 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 3/12 | chr4 | TogoVar | ||||||
| ABHD18_chr4_127960406_128044953 | 127996438 | TA | T | 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 | -1 | c.278 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 128001845 | TG | T | intron_variant | MODIFIER | HG01168.hp2 HG02280.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0043a0001c0001t0089 | a0001c0001t0027g0058a0001c0001t0027g0253a0001c0001t0027g0255others(3): Show | 6 | 344 | 0.0174 | -1 | c.279 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | chr4 | TogoVar | ||||||
| ABHD18_chr4_127960406_128044953 | 128001846 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(128): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(40): Show | a0001c0001t0002g0129a0001c0001t0002g0194a0001c0001t0002g0195others(128): Show | 131 | 344 | 0.3808 | -1 | c.279 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 128003367 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(46): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0002g0194a0001c0001t0002g0198a0001c0001t0002g0205others(46): Show | 49 | 344 | 0.1424 | -1 | c.279 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 128007576 | TA | T | intron_variant | MODIFIER | HG01433.hp1 HG01943.hp1 HG01943.hp2 others(15): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(6): Show | a0001c0001t0002g0248a0001c0001t0004g0152a0001c0001t0004g0161others(15): Show | 18 | 344 | 0.0523 | -1 | c.279 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 128011479 | GT | G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(66): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(22): Show | a0001c0001t0002g0243a0001c0001t0002g0248a0001c0001t0003g0043others(66): Show | 69 | 344 | 0.2006 | -1 | c.443 others(8): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 128013064 | CA | C | intron_variant | MODIFIER | HG00609.hp2 HG01496.hp2 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(4): Show | a0001c0001t0002g0243a0001c0001t0004g0189a0001c0001t0013g0236others(4): Show | 7 | 344 | 0.0204 | -1 | c.470 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 128014784 | TA | T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(83): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0022a0001c0001t0025a0001c0001t0035others(30): Show | a0001c0001t0022g0337a0001c0001t0022g0339a0001c0001t0022g0340others(83): Show | 86 | 344 | 0.2500 | -1 | c.471 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 128015076 | TA | T | intron_variant | MODIFIER | HG01168.hp2 HG02280.hp1 HG02451.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0011others(6): Show | a0001c0001t0003g0007a0001c0001t0003g0046a0001c0001t0005g0077others(12): Show | 15 | 344 | 0.0436 | -1 | c.471 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 128016728 | TC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(340): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(99): Show | a0001c0001t0002g0129a0001c0001t0002g0194a0001c0001t0002g0195others(340): Show | 343 | 344 | 0.9971 | -1 | c.471 others(8): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 128019013 | CA | C | intron_variant | MODIFIER | HG00621.hp2 HG01256.hp2 HG02451.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0017others(9): Show | a0001c0001t0003g0043a0001c0001t0005g0078a0001c0001t0005g0123others(13): Show | 16 | 344 | 0.0465 | -1 | c.610 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 128023403 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(133): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(50): Show | a0001c0001t0002g0129a0001c0001t0002g0194a0001c0001t0002g0195others(133): Show | 136 | 344 | 0.3954 | -1 | c.801 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 128025441 | CT | C | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02486.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0034a0003c0003t0058a0003c0003t0059others(1): Show | a0003c0003t0034g0134a0003c0003t0034g0136a0003c0003t0058g0344others(2): Show | 5 | 344 | 0.0145 | -1 | c.802 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 128031298 | CA | C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp1 others(57): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0014others(16): Show | a0001c0001t0002g0238a0002c0002t0001g0270a0002c0002t0001g0272others(57): Show | 60 | 344 | 0.1744 | -1 | c.134 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 128033524 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(64): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(24): Show | a0001c0001t0002g0129a0001c0001t0002g0194a0001c0001t0002g0198others(64): Show | 67 | 344 | 0.1948 | -1 | c.134 others(10): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 128033959 | CT | C | intron_variant | MODIFIER | HG01168.hp2 HG01496.hp1 HG01891.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(11): Show | a0001c0001t0002g0207a0001c0001t0003g0030a0001c0001t0013g0249others(14): Show | 17 | 344 | 0.0494 | -1 | c.134 others(10): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 128037118 | CA | C | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01074.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0019a0001c0001t0024others(11): Show | a0001c0001t0018g0008a0001c0001t0018g0024a0001c0001t0018g0033others(26): Show | 29 | 344 | 0.0843 | -1 | c.*13 others(6): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 1332 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
| ABHD18_chr4_127960406_128044953 | 128037364 | TG | T | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02486.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0034a0003c0003t0058a0003c0003t0059others(1): Show | a0003c0003t0034g0134a0003c0003t0034g0136a0003c0003t0058g0344others(2): Show | 5 | 344 | 0.0145 | -1 | c.*15 others(6): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 1553 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
| ABHD18_chr4_127960406_128044953 | 128042599 | TA | T | downstream_gene_variant | MODIFIER | NA18939.hp2 NA18942.hp2 NA18943.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0028a0002c0002t0001a0002c0002t0029others(2): Show | a0001c0001t0028g0224a0002c0002t0001g0272a0002c0002t0001g0277others(9): Show | 12 | 344 | 0.0349 | -1 | c.*67 others(6): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 2647 | chr4 | TogoVar | ||||||
| ABHD1_chr2_27118815_27135812 | 27121385 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(160): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(76): Show | 163 | 400 | 0.4075 | -1 | c.-25 others(6): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 2429 | chr2 | TogoVar | ||||||
| ABHD1_chr2_27118815_27135812 | 27125137 | CA | C | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01981.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0003a0003c0003t0001 | a0001c0001t0001g0043a0001c0001t0001g0073a0001c0001t0001g0116others(5): Show | 8 | 400 | 0.0200 | -1 | c.114 others(9): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABHD1_chr2_27118815_27135812 | 27125900 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(351): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(99): Show | 354 | 400 | 0.8850 | -1 | c.114 others(9): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABHD1_chr2_27118815_27135812 | 27126945 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(139): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0009others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(41): Show | 142 | 400 | 0.3550 | -1 | c.115 others(9): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABHD1_chr2_27118815_27135812 | 27127236 | CT | C | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(42): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0016a0001c0001t0001g0031others(15): Show | 45 | 400 | 0.1125 | -1 | c.115 others(9): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ABHD2_chr15_89083456_89207355 | 89084209 | TA | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(124): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0018others(124): Show | 127 | 234 | 0.5427 | -1 | c.-44 others(6): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 4246 | chr15 | TogoVar | ||||||
| ABHD2_chr15_89083456_89207355 | 89093173 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(147): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0021others(147): Show | 150 | 234 | 0.6410 | -1 | c.-10 others(10): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| ABHD2_chr15_89083456_89207355 | 89095063 | CA | C | intron_variant | MODIFIER | HG00544.hp1 HG01169.hp2 HG01256.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0213a0001c0001t0002g0214a0001c0001t0003g0026others(7): Show | 10 | 234 | 0.0427 | -1 | c.-10 others(10): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| ABHD2_chr15_89083456_89207355 | 89100284 | AT | A | intron_variant | MODIFIER | HG01081.hp1 HG02896.hp1 HG02897.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0001g0021a0001c0001t0001g0115a0001c0001t0001g0116others(5): Show | 8 | 234 | 0.0342 | -1 | c.-10 others(11): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| ABHD2_chr15_89083456_89207355 | 89110345 | GT | G | intron_variant | MODIFIER | HG00741.hp2 HG02717.hp1 HG02896.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(5): Show | 8 | 234 | 0.0342 | -1 | c.-10 others(10): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
| ABHD2_chr15_89083456_89207355 | 89113454 | CA | C | intron_variant | MODIFIER | HG02451.hp2 HG02965.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0091a0001c0001t0004g0003a0001c0001t0004g0092others(1): Show | 4 | 234 | 0.0171 | -1 | c.-10 others(9): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
| ABHD2_chr15_89083456_89207355 | 89120846 | GA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(53): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0044others(53): Show | 56 | 234 | 0.2393 | -1 | c.194 others(9): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| ABHD2_chr15_89083456_89207355 | 89121458 | CT | C | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG02451.hp2 others(12): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0021others(12): Show | 15 | 234 | 0.0641 | -1 | c.194 others(9): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| ABHD2_chr15_89083456_89207355 | 89123593 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG01070.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0118a0001c0001t0001g0173others(12): Show | 15 | 234 | 0.0641 | -1 | c.194 others(9): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| ABHD2_chr15_89083456_89207355 | 89124429 | TA | T | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG01952.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0095others(17): Show | 20 | 234 | 0.0855 | -1 | c.194 others(9): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |