| geneid | 57406 |
|---|---|
| ensemblid | ENSG00000163686.15 |
| hgncid | 21398 |
| symbol | ABHD6 |
| name | abhydrolase domain containing 6, acylglycerol lipase |
| refseq_nuc | NM_001320126.2 |
| refseq_prot | NP_001307055.1 |
| ensembl_nuc | ENST00000478253.6 |
| ensembl_prot | ENSP00000420315.1 |
| mane_status | MANE Select |
| chr | chr3 |
| start | 58237792 |
| end | 58294734 |
| strand | + |
| ver | v1.2 |
| region | chr3:58237792-58294734 |
| region5000 | chr3:58232792-58299734 |
| regionname0 | ABHD6_chr3_58237792_58294734 |
| regionname5000 | ABHD6_chr3_58232792_58299734 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:58237816
|
G | C | 0.8940 | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(267): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(260): Show | 270 | 302 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/10 | c.-191G>C | 18771 | |||||
|
chr3:58294044
|
G | C | 0.8874 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 10/10 | c.*279G>C | 279 | |||||
|
chr3:58294334
|
T | C | 0.8841 | 3_prime_UTR_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 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 10/10 | c.*569T>C | 569 | |||||
|
chr3:58294550
|
C | T | 0.0033 | 3_prime_UTR_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0083 | 1 | 302 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 10/10 | c.*785C>T | 785 | |||||
|
chr3:58294584
|
A | G | 0.3411 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(100): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(5): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0015others(99): Show | 103 | 302 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 10/10 | c.*819A>G | 819 | |||||
|
chr3:58294679
|
A | G | 0.3080 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(90): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(3): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0015others(89): Show | 93 | 302 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 10/10 | c.*914A>G | 914 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:58239609
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(267): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(260): Show | 270 | 302 | 0.8940 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+1693G>T | ||||||
|
chr3:58240247
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00558.hp2 others(124): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0016others(122): Show | 127 | 302 | 0.4205 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+2331T>A | ||||||
|
chr3:58240731
|
A | AT | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(80): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0056a0001c0001t0001g0085others(79): Show | 83 | 302 | 0.2748 | 1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+2832dupT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58240754
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(268): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(261): Show | 271 | 302 | 0.8974 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+2838G>A | ||||||
|
chr3:58240856
|
G | A | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0083 | 1 | 302 | 0.0033 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+2940G>A | ||||||
|
chr3:58240972
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(267): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(260): Show | 270 | 302 | 0.8940 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+3056T>C | ||||||
|
chr3:58241692
|
C | G | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(82): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0135a0001c0001t0001g0157a0001c0001t0001g0248others(81): Show | 85 | 302 | 0.2815 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+3776C>G | ||||||
|
chr3:58242207
|
T | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(93): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0135a0001c0001t0001g0157a0001c0001t0001g0248others(92): Show | 96 | 302 | 0.3179 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+4291T>C | ||||||
|
chr3:58242355
|
A | C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(114): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017others(112): Show | 117 | 302 | 0.3874 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+4439A>C | ||||||
|
chr3:58242384
|
A | C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(113): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0135others(111): Show | 116 | 302 | 0.3841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+4468A>C | ||||||
|
chr3:58242386
|
T | A | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(113): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0135others(111): Show | 116 | 302 | 0.3841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+4470T>A | ||||||
|
chr3:58242391
|
C | T | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(113): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0135others(111): Show | 116 | 302 | 0.3841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+4475C>T | ||||||
|
chr3:58242444
|
G | T | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(113): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0135others(111): Show | 116 | 302 | 0.3841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+4528G>T | ||||||
|
chr3:58242712
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(263): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(256): Show | 266 | 302 | 0.8808 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+4796T>A | ||||||
|
chr3:58243130
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+5214G>A | ||||||
|
chr3:58243823
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(262): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(255): Show | 265 | 302 | 0.8775 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+5907C>G | ||||||
|
chr3:58243926
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(262): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(255): Show | 265 | 302 | 0.8775 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-5952A>G | ||||||
|
chr3:58245019
|
G | T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(84): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0135a0001c0001t0002g0004a0001c0001t0002g0012others(83): Show | 87 | 302 | 0.2881 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-4859G>T | ||||||
|
chr3:58245827
|
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 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-4040_-90-4037dupAGAA | INFO_REALIGN_3_PRIME | |||||
|
chr3:58246390
|
C | G | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(86): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0135a0001c0001t0002g0004a0001c0001t0002g0012others(85): Show | 89 | 302 | 0.2947 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-3488C>G | ||||||
|
chr3:58246419
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(262): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(255): Show | 265 | 302 | 0.8775 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-3459G>A | ||||||
|
chr3:58246465
|
A | G | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(86): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0135a0001c0001t0002g0004a0001c0001t0002g0012others(85): Show | 89 | 302 | 0.2947 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-3413A>G | ||||||
|
chr3:58246758
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(262): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(255): Show | 265 | 302 | 0.8775 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-3120A>G | ||||||
|
chr3:58246803
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(262): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(255): Show | 265 | 302 | 0.8775 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-3075C>T | ||||||
|
chr3:58246932
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp1 others(121): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0013a0001c0001t0001g0135a0001c0001t0001g0154others(120): Show | 124 | 302 | 0.4106 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-2946G>A | ||||||
|
chr3:58247002
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(262): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(255): Show | 265 | 302 | 0.8775 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-2876A>G | ||||||
|
chr3:58247039
|
CT | C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp1 others(114): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0013a0001c0001t0001g0135a0001c0001t0001g0154others(113): Show | 117 | 302 | 0.3874 | -1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-2824delT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58247159
|
C | A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(86): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0135a0001c0001t0002g0004a0001c0001t0002g0012others(85): Show | 89 | 302 | 0.2947 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-2719C>A | ||||||
|
chr3:58247876
|
T | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(86): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0135a0001c0001t0002g0004a0001c0001t0002g0012others(85): Show | 89 | 302 | 0.2947 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-2002T>C | ||||||
|
chr3:58248151
|
C | T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(86): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0135a0001c0001t0002g0004a0001c0001t0002g0012others(85): Show | 89 | 302 | 0.2947 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-1727C>T | ||||||
|
chr3:58248410
|
G | T | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0083 | 1 | 302 | 0.0033 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-1468G>T | ||||||
|
chr3:58249470
|
C | G | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(84): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0135a0001c0001t0002g0004a0001c0001t0002g0012others(83): Show | 87 | 302 | 0.2881 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-408C>G | ||||||
|
chr3:58249600
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(261): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(254): Show | 264 | 302 | 0.8742 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-278T>C | ||||||
|
chr3:58250000
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp1 others(123): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0013a0001c0001t0001g0135a0001c0001t0001g0154others(122): Show | 126 | 302 | 0.4172 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-26+58T>C | ||||||
|
chr3:58252158
|
A | T | 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 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-26+2216A>T | ||||||
|
chr3:58252229
|
G | GT | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(80): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0017a0001c0001t0001g0063a0001c0001t0001g0135others(79): Show | 83 | 302 | 0.2748 | 1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-26+2310dupT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58254851
|
TACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp1 others(117): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0013a0001c0001t0001g0135a0001c0001t0001g0154others(116): Show | 120 | 302 | 0.3974 | -4 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-25-1681_-25-1678delCACA | INFO_REALIGN_3_PRIME | |||||
|
chr3:58255579
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(261): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(254): Show | 264 | 302 | 0.8742 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-25-983T>C | ||||||
|
chr3:58255712
|
T | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(89): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0135a0001c0001t0002g0004a0001c0001t0002g0012others(88): Show | 92 | 302 | 0.3046 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-25-850T>C | ||||||
|
chr3:58256108
|
CAT | C | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(50): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0135a0001c0001t0002g0012a0001c0001t0002g0015others(50): Show | 53 | 302 | 0.1755 | -2 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-25-452_-25-451delTA | INFO_REALIGN_3_PRIME | |||||
|
chr3:58256345
|
GTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(254): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(247): Show | 257 | 302 | 0.8510 | -2 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-25-206_-25-205delTT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58257283
|
C | T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(84): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0135a0001c0001t0002g0004a0001c0001t0002g0012others(83): Show | 87 | 302 | 0.2881 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.119+578C>T | ||||||
|
chr3:58257339
|
T | G | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(85): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0135a0001c0001t0002g0004a0001c0001t0002g0012others(84): Show | 88 | 302 | 0.2914 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.119+634T>G | ||||||
|
chr3:58257385
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(257): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(250): Show | 260 | 302 | 0.8609 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.119+680A>G | ||||||
|
chr3:58257387
|
C | CAG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(257): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(250): Show | 260 | 302 | 0.8609 | 2 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.119+683_119+684dupAG | INFO_REALIGN_3_PRIME | |||||
|
chr3:58259896
|
T | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(84): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0135a0001c0001t0002g0004a0001c0001t0002g0012others(83): Show | 87 | 302 | 0.2881 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.119+3191T>C | ||||||
|
chr3:58259928
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(257): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(250): Show | 260 | 302 | 0.8609 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.119+3223C>T | ||||||
|
chr3:58260769
|
C | T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(84): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0135a0001c0001t0002g0004a0001c0001t0002g0012others(83): Show | 87 | 302 | 0.2881 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.119+4064C>T | ||||||
|
chr3:58261644
|
G | A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(85): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0135a0001c0001t0002g0004a0001c0001t0002g0012others(84): Show | 88 | 302 | 0.2914 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.119+4939G>A | ||||||
|
chr3:58262420
|
G | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(85): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0135a0001c0001t0002g0004a0001c0001t0002g0012others(84): Show | 88 | 302 | 0.2914 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.120-4769G>C | ||||||
|
chr3:58264387
|
GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG01071.hp2 HG01074.hp2 HG01168.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0002g0004a0001c0001t0002g0073a0001c0001t0002g0082others(18): Show | 22 | 302 | 0.0729 | -10 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.120-2753_120-2744delCACACACACA | INFO_REALIGN_3_PRIME | |||||
|
chr3:58264399
|
A | G | intron_variant | MODIFIER | HG01071.hp2 HG01074.hp2 HG01168.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0228a0001c0001t0001g0237a0001c0001t0002g0004others(18): Show | 22 | 302 | 0.0729 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.120-2790A>G | ||||||
|
chr3:58265003
|
A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(152): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0013a0001c0001t0001g0135a0001c0001t0001g0154others(149): Show | 155 | 302 | 0.5133 | 1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.120-2178dupT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58267501
|
C | A | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0083 | 1 | 302 | 0.0033 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 4/9 | c.276+156C>A | ||||||
|
chr3:58271333
|
TAA | T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(91): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0135a0001c0001t0001g0159a0001c0001t0001g0279others(90): Show | 94 | 302 | 0.3113 | -2 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | c.523+282_523+283delAA | INFO_REALIGN_3_PRIME | |||||
|
chr3:58271766
|
G | GTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(58): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0135a0001c0001t0002g0004a0001c0001t0002g0012others(57): Show | 61 | 302 | 0.2020 | 5 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | c.523+722_523+726dupTTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58273866
|
A | G | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0083 | 1 | 302 | 0.0033 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | c.524-792A>G | ||||||
|
chr3:58274433
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(87): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0015others(86): Show | 90 | 302 | 0.2980 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | c.524-225C>T | ||||||
|
chr3:58276014
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0.8874 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.681+1199A>G | ||||||
|
chr3:58278167
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0.8874 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.681+3352A>G | ||||||
|
chr3:58279086
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(88): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0015others(87): Show | 91 | 302 | 0.3013 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.681+4271G>A | ||||||
|
chr3:58281676
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0.8874 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.682-3409T>C | ||||||
|
chr3:58284010
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(88): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0015others(87): Show | 91 | 302 | 0.3013 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.682-1075C>G | ||||||
|
chr3:58285236
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0.8874 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 8/9 | c.736+97T>C | ||||||
|
chr3:58285851
|
C | T | 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 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+398C>T | ||||||
|
chr3:58286025
|
GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(259): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(252): Show | 262 | 302 | 0.8676 | -1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+585delT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58286121
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(258): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(251): Show | 261 | 302 | 0.8642 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+668G>A | ||||||
|
chr3:58286251
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(89): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0015others(88): Show | 92 | 302 | 0.3046 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+798C>T | ||||||
|
chr3:58286444
|
A | C | 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 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+991A>C | ||||||
|
chr3:58286828
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(143): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0019others(140): Show | 146 | 302 | 0.4834 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+1375G>A | ||||||
|
chr3:58286848
|
G | GTATATAT others(39): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00609.hp2 others(27): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0014others(1): Show | a0001c0001t0002g0073a0001c0001t0002g0074a0001c0001t0002g0082others(27): Show | 30 | 302 | 0.0993 | 46 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+1396_837+1397insATATATATATATATGTATATATATATATATATATATATATGTGTAT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58286850
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(220): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(216): Show | 223 | 302 | 0.7384 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+1397G>A | ||||||
|
chr3:58286852
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(260): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(253): Show | 263 | 302 | 0.8709 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+1399G>A | ||||||
|
chr3:58286870
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(260): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(253): Show | 263 | 302 | 0.8709 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+1417G>A | ||||||
|
chr3:58286908
|
T | C | 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 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+1455T>C | ||||||
|
chr3:58286912
|
T | C | 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 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+1459T>C | ||||||
|
chr3:58288016
|
T | A | 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 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+2563T>A | ||||||
|
chr3:58288088
|
G | A | 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 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+2635G>A | ||||||
|
chr3:58288613
|
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 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+3163_837+3164insAACT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58289228
|
A | AT | 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 | 1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+3783dupT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58289322
|
G | A | 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 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+3869G>A | ||||||
|
chr3:58289458
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0.8874 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+4005G>A | ||||||
|
chr3:58289488
|
T | C | 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 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+4035T>C | ||||||
|
chr3:58289842
|
A | G | 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 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-3747A>G | ||||||
|
chr3:58289968
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(88): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0015others(87): Show | 91 | 302 | 0.3013 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-3621C>T | ||||||
|
chr3:58290206
|
T | C | 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 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-3383T>C | ||||||
|
chr3:58290214
|
G | A | 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 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-3375G>A | ||||||
|
chr3:58290358
|
T | C | 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 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-3231T>C | ||||||
|
chr3:58290446
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(263): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(256): Show | 266 | 302 | 0.8808 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-3143T>C | ||||||
|
chr3:58290513
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(262): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(255): Show | 265 | 302 | 0.8775 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-3076A>G | ||||||
|
chr3:58290587
|
T | TGGCTGCC others(33): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(250): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0011others(244): Show | 253 | 302 | 0.8378 | 40 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-2967_838-2966insGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGAC | INFO_REALIGN_3_PRIME | |||||
|
chr3:58291064
|
A | G | 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 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-2525A>G | ||||||
|
chr3:58291201
|
A | AC | 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 | 1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-2385dupC | INFO_REALIGN_3_PRIME | |||||
|
chr3:58291216
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(89): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0015others(88): Show | 92 | 302 | 0.3046 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-2373A>G | ||||||
|
chr3:58291244
|
A | G | 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 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-2345A>G | ||||||
|
chr3:58291248
|
T | C | 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 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-2341T>C | ||||||
|
chr3:58291774
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0.8874 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-1815A>C | ||||||
|
chr3:58291802
|
C | G | 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 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-1787C>G | ||||||
|
chr3:58291809
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(89): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0015others(88): Show | 92 | 302 | 0.3046 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-1780A>G | ||||||
|
chr3:58291819
|
G | A | 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 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-1770G>A | ||||||
|
chr3:58291994
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0.8874 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-1595A>G | ||||||
|
chr3:58292517
|
A | G | 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 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-1072A>G | ||||||
|
chr3:58293058
|
C | A | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(88): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0015others(87): Show | 91 | 302 | 0.3013 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-531C>A |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD6 | 1/1 | a0001 | 337 | 298 | 94 | 67 | 87 | 12 | 36 | subcellular location copy fasta | chr3 | 58232792 | 58299734 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD6 | 1/1 | c0001 | 1014 | 298 | 94 | 67 | 87 | 12 | 36 | copy fasta | chr3 | 58232792 | 58299734 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD6 | 0/0 | t0014 | 1185 | 1 | 0 | 0 | 0 | 0 | 1 | copy fasta | chr3 | 58232792 | 58299734 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD6 | 0/0 | g0083 | 1 | 0 | 0 | 0 | 0 | 1 | chr3 | 58232792 | 58299734 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD6 | 1/1 | a0001c0001 | 298 | 94 | 67 | 87 | 12 | 36 | 1014 | copy fasta | chr3 | 58232792 | 58299734 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD6 | 0/0 | a0001c0001t0014 | 1 | 0 | 0 | 0 | 0 | 1 | 2198 | copy fasta | chr3 | 58232792 | 58299734 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD6 | 0/0 | a0001c0001t0014g0083 | 1 | 0 | 0 | 0 | 0 | 1 | chr3 | 58232792 | 58299734 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 58237916 | + | 1 | -0.8847 | -0.8847 | -0.8847 | 0.0000 | acceptor | a0001c0001t0014g0083 | HG02602.hp2 | HG02602.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58249878 | + | 2 | 0.4721 | 0.4721 | 0.4721 | 0.0000 | donor | a0001c0001t0014g0083 | HG02602.hp2 | HG02602.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58249942 | + | 2 | -0.6094 | -0.6093 | -0.6094 | 0.0000 | acceptor | a0001c0001t0014g0083 | HG02602.hp2 | HG02602.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58256562 | + | 3 | 0.9672 | 0.9672 | 0.9672 | 0.0000 | donor | a0001c0001t0014g0083 | HG02602.hp2 | HG02602.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58256705 | + | 3 | -0.9760 | -0.9760 | -0.9760 | 0.0000 | acceptor | a0001c0001t0014g0083 | HG02602.hp2 | HG02602.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58267189 | + | 4 | 0.9853 | 0.9853 | 0.9853 | 0.0000 | donor | a0001c0001t0014g0083 | HG02602.hp2 | HG02602.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58267345 | + | 4 | -0.9735 | -0.9735 | -0.9735 | 0.0000 | acceptor | a0001c0001t0014g0083 | HG02602.hp2 | HG02602.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58269321 | + | 5 | 0.9938 | 0.9938 | 0.9938 | 0.0000 | donor | a0001c0001t0014g0083 | HG02602.hp2 | HG02602.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58269434 | + | 5 | -0.9973 | -0.9973 | -0.9973 | 0.0000 | acceptor | a0001c0001t0014g0083 | HG02602.hp2 | HG02602.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58270932 | + | 6 | 0.9959 | 0.9959 | 0.9959 | 0.0000 | donor | a0001c0001t0014g0083 | HG02602.hp2 | HG02602.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58271064 | + | 6 | -0.9892 | -0.9892 | -0.9892 | 0.0000 | acceptor | a0001c0001t0014g0083 | HG02602.hp2 | HG02602.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58274658 | + | 7 | 0.9849 | 0.9849 | 0.9849 | 0.0000 | donor | a0001c0001t0014g0083 | HG02602.hp2 | HG02602.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58274815 | + | 7 | -0.9857 | -0.9857 | -0.9857 | 0.0000 | acceptor | a0001c0001t0014g0083 | HG02602.hp2 | HG02602.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58285085 | + | 8 | 0.9911 | 0.9911 | 0.9911 | 0.0000 | donor | a0001c0001t0014g0083 | HG02602.hp2 | HG02602.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58285139 | + | 8 | -0.9888 | -0.9888 | -0.9888 | 0.0000 | acceptor | a0001c0001t0014g0083 | HG02602.hp2 | HG02602.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58285353 | + | 9 | 0.9585 | 0.9585 | 0.9585 | 0.0000 | donor | a0001c0001t0014g0083 | HG02602.hp2 | HG02602.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58285453 | + | 9 | -0.9969 | -0.9969 | -0.9969 | 0.0000 | acceptor | a0001c0001t0014g0083 | HG02602.hp2 | HG02602.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58293589 | + | 10 | 0.8060 | 0.8060 | 0.8060 | 0.0000 | donor | a0001c0001t0014g0083 | HG02602.hp2 | HG02602.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:58278167
|
c.681+3352A>G | Hemoglobin levels0.017 | a0001a0002a0003a0004 | a0001c0001a0002c0002a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0007others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0013others(256): Show |
