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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD3_chr18_21645901_21709774 | 21649937 | C | CA | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG01069.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0016 others(23): Show |
26 | 290 | 0.0897 | 1 | c.*16 others(12): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 963 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21653052 | C | CA | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG01106.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0016 others(11): Show |
14 | 298 | 0.0470 | 1 | c.105 others(10): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 8/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21655284 | G | GT | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01928.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 others(15): Show |
18 | 276 | 0.0652 | 1 | c.105 others(10): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 8/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21658838 | G | GT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG02015.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(1): Show | a0001c0001t0001g0023 a0001c0001t0001g0055 a0001c0001t0001g0064 others(9): Show |
12 | 299 | 0.0401 | 1 | c.842 others(8): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 6/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21659962 | C | CT | intron_variant | MODIFIER | HG00735.hp1 HG01928.hp1 HG02015.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0028 a0001c0001t0001g0064 a0001c0001t0001g0069 others(5): Show |
8 | 127 | 0.0630 | 1 | c.669 others(8): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 5/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21661102 | T | TA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00621.hp1 others(137): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0031 others(137): Show |
140 | 240 | 0.5833 | 1 | c.669 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 5/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21667077 | A | AT | intron_variant | MODIFIER | HG00741.hp1 HG01361.hp2 HG02683.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0042 a0001c0001t0001g0124 a0001c0001t0001g0129 others(4): Show |
7 | 300 | 0.0233 | 1 | c.556 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21667098 | A | AG | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(190): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0037 others(188): Show |
193 | 302 | 0.6391 | 1 | c.556 others(18): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21667234 | C | CT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00735.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(17): Show |
20 | 115 | 0.1739 | 1 | c.556 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21668200 | C | CA | intron_variant | MODIFIER | HG01261.hp1 HG01928.hp1 HG01934.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0030 others(3): Show |
6 | 143 | 0.0420 | 1 | c.556 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21672864 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(190): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0037 others(188): Show |
193 | 302 | 0.6391 | 1 | c.556 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21675262 | G | GT | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00621.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(19): Show |
22 | 169 | 0.1302 | 1 | c.555 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21684311 | C | CT | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01261.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0020 others(18): Show |
21 | 131 | 0.1603 | 1 | c.510 others(8): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21687384 | A | AT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(153): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(152): Show |
156 | 302 | 0.5166 | 1 | c.510 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21689549 | C | CA | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp2 HG01123.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0083 others(9): Show |
12 | 102 | 0.1176 | 1 | c.510 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21690295 | T | TA | intron_variant | MODIFIER | HG01074.hp2 HG01123.hp2 HG01257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0166 others(5): Show |
8 | 302 | 0.0265 | 1 | c.510 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21690996 | C | CA | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01074.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0016 others(18): Show |
21 | 255 | 0.0824 | 1 | c.510 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21696146 | G | GT | intron_variant | MODIFIER | HG01081.hp2 HG01952.hp1 HG01975.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0014 a0001c0001t0002g0146 a0001c0001t0002g0169 others(9): Show |
12 | 298 | 0.0403 | 1 | c.509 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21696755 | T | TG | intron_variant | MODIFIER | HG01243.hp2 HG01975.hp1 HG02257.hp2 others(20): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 others(20): Show |
23 | 302 | 0.0762 | 1 | c.509 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21697074 | C | CT | intron_variant | MODIFIER | HG01243.hp2 HG01975.hp1 HG02257.hp2 others(31): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0001g0048 others(31): Show |
34 | 293 | 0.1160 | 1 | c.509 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21698191 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00735.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0107 a0001c0001t0001g0108 others(25): Show |
29 | 300 | 0.0967 | 1 | c.509 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21698939 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(52): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0107 others(51): Show |
55 | 301 | 0.1827 | 1 | c.509 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21700827 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00621.hp1 others(96): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0027 others(95): Show |
99 | 194 | 0.5103 | 1 | c.509 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21700952 | C | CA | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG01928.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0101 others(11): Show |
14 | 118 | 0.1186 | 1 | c.509 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21701212 | C | CT | intron_variant | MODIFIER | HG01243.hp2 HG01975.hp1 HG02257.hp2 others(19): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 others(19): Show |
22 | 300 | 0.0733 | 1 | c.509 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21703218 | A | AC | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00558.hp1 others(70): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(64): Show |
73 | 240 | 0.3042 | 1 | c.326 others(8): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 2/8 | chr18 | TogoVar | |||||||
ABHD4_chr14_22593300_22617963 | 22596096 | A | AT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(217): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(108): Show |
220 | 422 | 0.5213 | 1 | c.-22 others(12): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 2203 | chr14 | TogoVar | |||||||
ABHD4_chr14_22593300_22617963 | 22596746 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(136): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(65): Show |
139 | 422 | 0.3294 | 1 | c.-15 others(12): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1553 | chr14 | TogoVar | |||||||
ABHD4_chr14_22593300_22617963 | 22604564 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(229): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0016 others(109): Show |
232 | 422 | 0.5498 | 1 | c.640 others(8): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD4_chr14_22593300_22617963 | 22610063 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(126): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014 | a0001c0001t0001g0026 a0001c0001t0001g0076 a0001c0001t0001g0104 others(53): Show |
129 | 422 | 0.3057 | 1 | c.939 others(8): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD4_chr14_22593300_22617963 | 22613125 | T | TA | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG00673.hp1 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0016 others(38): Show |
78 | 421 | 0.1853 | 1 | c.*21 others(12): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 163 | chr14 | TogoVar | |||||||
ABHD4_chr14_22593300_22617963 | 22614760 | C | CT | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01358.hp2 HG01884.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0004 | a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0110 others(8): Show |
16 | 186 | 0.0860 | 1 | c.*38 others(12): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1798 | chr14 | TogoVar | |||||||
ABHD5_chr3_43685938_43727725 | 43687003 | A | AT | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01192.hp2 HG01515.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0053 a0001c0001t0002g0039 a0001c0001t0002g0125 others(3): Show |
6 | 206 | 0.0291 | 1 | c.-39 others(12): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 3934 | chr3 | TogoVar | |||||||
ABHD5_chr3_43685938_43727725 | 43690060 | C | CT | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01167.hp1 HG01169.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0138 a0001c0001t0002g0041 a0001c0001t0004g0017 others(4): Show |
12 | 196 | 0.0612 | 1 | c.-93 others(10): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 877 | chr3 | TogoVar | |||||||
ABHD5_chr3_43685938_43727725 | 43693750 | C | CT | intron_variant | MODIFIER | HG01192.hp1 HG02055.hp2 HG02109.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0033others(1): Show | a0001c0001t0002g0007 a0001c0001t0002g0036 a0001c0001t0002g0037 others(10): Show |
18 | 106 | 0.1698 | 1 | c.47+ others(8): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43694258 | C | CA | intron_variant | MODIFIER | HG01255.hp2 HG01346.hp2 HG01952.hp1 others(23): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0005c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0064 others(22): Show |
26 | 216 | 0.1204 | 1 | c.47+ others(8): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43696906 | T | TA | intron_variant | MODIFIER | HG01081.hp1 HG01255.hp2 HG01952.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0018a0001c0002t0038 | a0001c0002t0005g0031 a0001c0002t0005g0149 a0001c0002t0005g0150 others(8): Show |
12 | 284 | 0.0423 | 1 | c.48- others(8): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43703182 | C | CT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(232): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(163): Show |
235 | 281 | 0.8363 | 1 | c.506 others(8): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43704033 | C | CT | intron_variant | MODIFIER | HG01346.hp1 HG02922.hp1 HG03130.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(2): Show | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0003g0163 others(5): Show |
8 | 104 | 0.0769 | 1 | c.506 others(9): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43713322 | C | CA | intron_variant | MODIFIER | HG00408.hp2 HG01109.hp1 HG01934.hp1 others(14): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0020 a0001c0001t0001g0069 a0001c0001t0001g0079 others(13): Show |
17 | 263 | 0.0646 | 1 | c.661 others(9): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43714137 | C | CT | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01884.hp1 others(14): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0079 a0001c0001t0002g0125 a0001c0001t0004g0017 others(7): Show |
17 | 203 | 0.0837 | 1 | c.662 others(8): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43714580 | G | GT | intron_variant | MODIFIER | HG01192.hp1 HG02055.hp2 HG02572.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 a0001c0001t0002g0035 a0001c0001t0002g0036 others(5): Show |
11 | 284 | 0.0387 | 1 | c.662 others(8): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43720290 | A | AG | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01070.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0011others(4): Show | a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0012 others(30): Show |
55 | 283 | 0.1943 | 1 | c.*17 others(12): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 7/7 | 1759 | chr3 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43721562 | C | CA | 3_prime_UTR_variant | MODIFIER | HG01952.hp2 HG02071.hp2 HG02523.hp1 others(7): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0009a0001c0001t0010a0001c0001t0017others(1): Show | a0001c0001t0009g0024 a0001c0001t0009g0049 a0001c0001t0009g0057 others(6): Show |
10 | 209 | 0.0478 | 1 | c.*30 others(6): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 7/7 | 3052 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD5_chr3_43685938_43727725 | 43725848 | G | GT | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01167.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0003 a0001c0001t0004g0017 a0001c0001t0004g0025 others(10): Show |
24 | 208 | 0.1154 | 1 | c.*73 others(12): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 3124 | chr3 | TogoVar | |||||||
ABHD6_chr3_58232792_58299734 | 58239987 | C | CA | intron_variant | MODIFIER | HG01934.hp2 HG02080.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0018 a0001c0001t0002g0074 a0001c0001t0002g0075 others(3): Show |
6 | 281 | 0.0214 | 1 | c.-91 others(9): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58240731 | A | AT | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(80): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0001g0087 others(78): Show |
83 | 114 | 0.7281 | 1 | c.-91 others(9): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58247039 | C | CT | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02630.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 others(6): Show |
9 | 181 | 0.0497 | 1 | c.-90 others(9): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58251090 | C | CG | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG01891.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0017 | a0001c0001t0001g0014 a0001c0001t0001g0154 a0001c0001t0001g0257 others(10): Show |
13 | 300 | 0.0433 | 1 | c.-26 others(9): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58251315 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(169): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(163): Show |
172 | 300 | 0.5733 | 1 | c.-26 others(9): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |