| geneid | 145447 |
|---|---|
| ensemblid | ENSG00000131969.15 |
| hgncid | 19837 |
| symbol | ABHD12B |
| name | abhydrolase domain containing 12B |
| refseq_nuc | NM_001206673.2 |
| refseq_prot | NP_001193602.1 |
| ensembl_nuc | ENST00000337334.7 |
| ensembl_prot | ENSP00000336693.2 |
| mane_status | MANE Select |
| chr | chr14 |
| start | 50872053 |
| end | 50904970 |
| strand | + |
| ver | v1.2 |
| region | chr14:50872053-50904970 |
| region5000 | chr14:50867053-50909970 |
| regionname0 | ABHD12B_chr14_50872053_50904970 |
| regionname5000 | ABHD12B_chr14_50867053_50909970 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr14:50904134
|
C | G | 0.0957 | missense_variant | MODERATE | HG00438.hp1 HG00544.hp1 HG00621.hp2 others(33): Show |
a0003 | a0003c0003a0003c0012 | a0003c0003t0001a0003c0003t0003a0003c0012t0001 | a0003c0003t0001g0014a0003c0003t0001g0027a0003c0003t0001g0053others(32): Show | 36 | 376 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 12/13 | c.1003C>G | p.Pro335Ala | 1125/1815 | 1003/1089 | 335/362 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr14:50872157
|
A | C | 0.9282 | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(346): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(23): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(326): Show | 349 | 376 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/13 | c.-18A>C | 18 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr14:50873370
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(321): Show | 344 | 376 | 0.9149 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.104+1092T>C | ||||||
|
chr14:50873855
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(88): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0005t0004a0001c0006t0001others(9): Show | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0230others(84): Show | 91 | 376 | 0.2420 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.104+1577A>G | ||||||
|
chr14:50874372
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(79): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0005t0004a0001c0006t0001others(9): Show | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0230others(75): Show | 82 | 376 | 0.2181 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.104+2094G>A | ||||||
|
chr14:50874461
|
G | A | intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0227 | 1 | 376 | 0.0027 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.104+2183G>A | ||||||
|
chr14:50874609
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(335): Show | 358 | 376 | 0.9521 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.104+2331T>A | ||||||
|
chr14:50875135
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(371): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(350): Show | 374 | 376 | 0.9947 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.105-2817C>G | ||||||
|
chr14:50875169
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0005t0004a0001c0006t0001others(9): Show | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0046others(103): Show | 110 | 376 | 0.2926 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.105-2783T>C | ||||||
|
chr14:50875513
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(295): Show | 317 | 376 | 0.8431 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.105-2439C>T | ||||||
|
chr14:50877642
|
G | A | intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0227 | 1 | 376 | 0.0027 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.105-310G>A | ||||||
|
chr14:50877866
|
C | CAA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(130): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0004others(21): Show | a0001c0001t0001g0011a0001c0001t0001g0025a0001c0001t0001g0032others(122): Show | 133 | 376 | 0.3537 | 2 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.105-78_105-77dupAA | INFO_REALIGN_3_PRIME | |||||
|
chr14:50879011
|
C | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG01167.hp2 others(35): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0032a0001c0001t0001g0162a0001c0001t0001g0296others(33): Show | 38 | 376 | 0.1011 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3/12 | c.335+164C>G | ||||||
|
chr14:50879635
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(366): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(345): Show | 369 | 376 | 0.9814 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3/12 | c.335+788A>C | ||||||
|
chr14:50879659
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(366): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(345): Show | 369 | 376 | 0.9814 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3/12 | c.336-793T>G | ||||||
|
chr14:50879841
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(366): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(345): Show | 369 | 376 | 0.9814 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3/12 | c.336-611G>A | ||||||
|
chr14:50879992
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(366): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(345): Show | 369 | 376 | 0.9814 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3/12 | c.336-460T>A | ||||||
|
chr14:50880389
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(366): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(345): Show | 369 | 376 | 0.9814 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3/12 | c.336-63G>A | ||||||
|
chr14:50881563
|
CT | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02280.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0005others(5): Show | a0001c0001t0001g0032a0001c0006t0001g0295a0002c0002t0005g0022others(12): Show | 15 | 376 | 0.0399 | -1 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 4/12 | c.456-16delT | INFO_REALIGN_3_PRIME | |||||
|
chr14:50882373
|
CTT | C | intron_variant | MODIFIER | HG00280.hp2 HG01884.hp1 HG02622.hp2 others(7): Show |
a0002a0003a0008others(1): Show | a0002c0002a0003c0003a0008c0015others(1): Show | a0002c0002t0005a0003c0003t0001a0008c0015t0001others(1): Show | a0002c0002t0005g0022a0002c0002t0005g0153a0002c0002t0005g0170others(7): Show | 10 | 376 | 0.0266 | -2 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.486+767_486+768delTT | INFO_REALIGN_3_PRIME | |||||
|
chr14:50883957
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(349): Show | 373 | 376 | 0.9920 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-1657T>C | ||||||
|
chr14:50884558
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(334): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(315): Show | 337 | 376 | 0.8963 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-1056A>G | ||||||
|
chr14:50884939
|
G | A | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02622.hp2 others(6): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0005a0002c0002t0006a0003c0003t0001 | a0002c0002t0005g0022a0002c0002t0005g0153a0002c0002t0005g0170others(6): Show | 9 | 376 | 0.0239 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-675G>A | ||||||
|
chr14:50885233
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(357): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(336): Show | 360 | 376 | 0.9575 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-381A>G | ||||||
|
chr14:50885256
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(357): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(336): Show | 360 | 376 | 0.9575 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-358G>A | ||||||
|
chr14:50885441
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(357): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(336): Show | 360 | 376 | 0.9575 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-173C>T | ||||||
|
chr14:50886775
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(337): Show | 361 | 376 | 0.9601 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.700+91T>C | ||||||
|
chr14:50886938
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(337): Show | 361 | 376 | 0.9601 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.700+254C>T | ||||||
|
chr14:50886981
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(337): Show | 361 | 376 | 0.9601 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.700+297T>C | ||||||
|
chr14:50886986
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(337): Show | 361 | 376 | 0.9601 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.700+302T>C | ||||||
|
chr14:50887211
|
C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(218): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(13): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(202): Show | 221 | 376 | 0.5878 | 9 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.700+537_700+545dupAAAAAAAAA | INFO_REALIGN_3_PRIME | |||||
|
chr14:50887599
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(337): Show | 361 | 376 | 0.9601 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.700+915A>G | ||||||
|
chr14:50887603
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(349): Show | 373 | 376 | 0.9920 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.700+919C>T | ||||||
|
chr14:50887798
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(352): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(331): Show | 355 | 376 | 0.9442 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.701-1026G>A | ||||||
|
chr14:50888208
|
C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(285): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(15): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(268): Show | 288 | 376 | 0.7660 | 1 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.701-602dupT | INFO_REALIGN_3_PRIME | |||||
|
chr14:50888313
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(332): Show | 356 | 376 | 0.9468 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.701-511T>C | ||||||
|
chr14:50888328
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(332): Show | 356 | 376 | 0.9468 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.701-496C>T | ||||||
|
chr14:50888444
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(279): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(13): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(262): Show | 282 | 376 | 0.7500 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.701-380C>T | ||||||
|
chr14:50888452
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(349): Show | 373 | 376 | 0.9920 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.701-372G>T | ||||||
|
chr14:50888799
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(206): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(16): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0011others(194): Show | 209 | 376 | 0.5559 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.701-25C>A | ||||||
|
chr14:50889405
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(332): Show | 356 | 376 | 0.9468 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+502T>C | ||||||
|
chr14:50889503
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(349): Show | 373 | 376 | 0.9920 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+600C>T | ||||||
|
chr14:50889516
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(332): Show | 356 | 376 | 0.9468 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+613T>C | ||||||
|
chr14:50889586
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(349): Show | 373 | 376 | 0.9920 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+683T>C | ||||||
|
chr14:50890668
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(332): Show | 356 | 376 | 0.9468 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+1765T>G | ||||||
|
chr14:50890683
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(332): Show | 356 | 376 | 0.9468 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+1780A>G | ||||||
|
chr14:50890875
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(333): Show | 357 | 376 | 0.9495 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+1972C>A | ||||||
|
chr14:50890977
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(333): Show | 357 | 376 | 0.9495 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+2074A>G | ||||||
|
chr14:50891237
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(332): Show | 356 | 376 | 0.9468 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+2334T>C | ||||||
|
chr14:50891250
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(367): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(346): Show | 370 | 376 | 0.9840 | -1 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+2357delT | INFO_REALIGN_3_PRIME | |||||
|
chr14:50891336
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(367): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(346): Show | 370 | 376 | 0.9840 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+2433G>A | ||||||
|
chr14:50892076
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(207): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(196): Show | 210 | 376 | 0.5585 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+3173C>T | ||||||
|
chr14:50892113
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(363): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(342): Show | 366 | 376 | 0.9734 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+3210A>C |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/0 | a0003 | 362 | 36 | 10 | 6 | 11 | 0 | 9 | subcellular location copy fasta | chr14 | 50867053 | 50909970 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/0 | c0003 | 1089 | 34 | 8 | 6 | 11 | 0 | 9 | copy fasta | chr14 | 50867053 | 50909970 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/1 | t0001 | 727 | 195 | 45 | 41 | 72 | 10 | 26 | copy fasta | chr14 | 50867053 | 50909970 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/0 | g0227 | 1 | 1 | 0 | 0 | 0 | 0 | chr14 | 50867053 | 50909970 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/0 | a0003c0003 | 34 | 8 | 6 | 11 | 0 | 9 | 1089 | copy fasta | chr14 | 50867053 | 50909970 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/0 | a0003c0003t0001 | 29 | 3 | 6 | 11 | 0 | 9 | 1815 | copy fasta | chr14 | 50867053 | 50909970 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/0 | a0003c0003t0001g0227 | 1 | 1 | 0 | 0 | 0 | 0 | chr14 | 50867053 | 50909970 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 50872278 | + | 1 | -0.9263 | -0.9263 | -0.9263 | 0.0000 | acceptor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50877952 | + | 2 | 0.2846 | 0.2846 | 0.2846 | 0.0000 | donor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50878079 | + | 2 | -0.1410 | -0.1410 | -0.1410 | 0.0000 | acceptor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50878745 | + | 3 | 0.6175 | 0.6175 | 0.6175 | 0.0000 | donor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50878847 | + | 3 | -0.7873 | -0.7873 | -0.7873 | 0.0000 | acceptor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50880452 | + | 4 | 0.9413 | 0.9413 | 0.9413 | 0.0000 | donor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50880571 | + | 4 | -0.9653 | -0.9653 | -0.9653 | 0.0000 | acceptor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50881596 | + | 5 | 0.9289 | 0.9289 | 0.9289 | 0.0000 | donor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50881626 | + | 5 | -0.9454 | -0.9454 | -0.9454 | 0.0000 | acceptor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50885614 | + | 6 | 0.9361 | 0.9361 | 0.9361 | 0.0000 | donor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50885659 | + | 6 | -0.9204 | -0.9204 | -0.9204 | 0.0000 | acceptor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50885766 | + | 7 | 0.9879 | 0.9879 | 0.9879 | 0.0000 | donor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50885895 | + | 7 | -0.9272 | -0.9272 | -0.9272 | 0.0000 | acceptor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50886647 | + | 8 | 0.9273 | 0.9273 | 0.9273 | 0.0000 | donor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50886684 | + | 8 | -0.9611 | -0.9611 | -0.9611 | 0.0000 | acceptor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50888824 | + | 9 | 0.9960 | 0.9960 | 0.9960 | 0.0000 | donor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50888903 | + | 9 | -0.9967 | -0.9967 | -0.9967 | 0.0000 | acceptor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50901829 | + | 10 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50901911 | + | 10 | -0.9961 | -0.9960 | -0.9961 | 0.0000 | acceptor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50903389 | + | 11 | 0.9670 | 0.9670 | 0.9670 | 0.0000 | donor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50903467 | + | 11 | -0.9705 | -0.9705 | -0.9705 | 0.0000 | acceptor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50904074 | + | 12 | 0.9506 | 0.9506 | 0.9506 | 0.0000 | donor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50904192 | + | 12 | -0.9205 | -0.9205 | -0.9205 | 0.0000 | acceptor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50904339 | + | 13 | 0.6061 | 0.6061 | 0.6061 | 0.0000 | donor | a0003c0003t0001g0227 | HG03579.hp1 | HG03579.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 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 |
|---|