| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr14:50885837
|
A | G | 0.0027 | missense_variant | MODERATE | NA19043.hp2 | a0009 | a0009c0017 | a0009c0017t0006 | a0009c0017t0006g0224 | 1 | 376 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 7/13 | c.604A>G | p.Thr202Ala | 726/1815 | 604/1089 | 202/362 | ||
|
chr14:50901892
|
A | G | 0.3484 | missense_variant | MODERATE | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(128): Show |
a0002a0005a0009others(1): Show | a0002c0002a0002c0004a0005c0008others(2): Show | a0002c0002t0002a0002c0002t0005a0002c0002t0006others(9): Show | a0002c0002t0002g0001a0002c0002t0002g0003a0002c0002t0002g0009others(120): Show | 131 | 376 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 10/13 | c.844A>G | p.Ile282Val | 966/1815 | 844/1089 | 282/362 |
| 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 | |||||
|
chr14:50904403
|
C | T | 0.3484 | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(128): Show |
a0002a0005a0009others(1): Show | a0002c0002a0002c0004a0005c0008others(2): Show | a0002c0002t0002a0002c0002t0005a0002c0002t0006others(9): Show | a0002c0002t0002g0001a0002c0002t0002g0003a0002c0002t0002g0009others(120): Show | 131 | 376 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 13/13 | c.*37C>T | 37 | |||||
|
chr14:50904432
|
C | T | 0.3484 | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(128): Show |
a0002a0005a0009others(1): Show | a0002c0002a0002c0004a0005c0008others(2): Show | a0002c0002t0002a0002c0002t0005a0002c0002t0006others(9): Show | a0002c0002t0002g0001a0002c0002t0002g0003a0002c0002t0002g0009others(120): Show | 131 | 376 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 13/13 | c.*66C>T | 66 | |||||
|
chr14:50904687
|
T | C | 0.0160 | 3_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02886.hp2 others(3): Show |
a0002a0009 | a0002c0002a0002c0004a0009c0017 | a0002c0002t0006a0002c0004t0006a0002c0004t0010others(1): Show | a0002c0002t0006g0317a0002c0004t0006g0023a0002c0004t0006g0169others(3): Show | 6 | 376 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 13/13 | c.*321T>C | 321 | |||||
|
chr14:50904729
|
C | T | 0.0452 | 3_prime_UTR_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG02145.hp1 others(14): Show |
a0002a0009 | a0002c0002a0002c0004a0009c0017 | a0002c0002t0005a0002c0002t0006a0002c0002t0011others(4): Show | a0002c0002t0005g0022a0002c0002t0005g0024a0002c0002t0005g0153others(14): Show | 17 | 376 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 13/13 | c.*363C>T | 363 |
| 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 | ||||||
|
chr14:50874368
|
A | C | intron_variant | MODIFIER | HG03225.hp1 HG06807.hp1 NA19043.hp2 |
a0001a0009 | a0001c0001a0009c0017 | a0001c0001t0001a0009c0017t0006 | a0001c0001t0001g0031a0001c0001t0001g0032a0009c0017t0006g0224 | 3 | 376 | 0.0080 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.104+2090A>C | ||||||
|
chr14:50874396
|
G | C | intron_variant | MODIFIER | HG03225.hp1 HG06807.hp1 NA19043.hp2 |
a0001a0009 | a0001c0001a0009c0017 | a0001c0001t0001a0009c0017t0006 | a0001c0001t0001g0031a0001c0001t0001g0032a0009c0017t0006g0224 | 3 | 376 | 0.0080 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.104+2118G>C | ||||||
|
chr14:50874871
|
A | G | intron_variant | MODIFIER | HG03225.hp1 HG06807.hp1 NA19043.hp2 |
a0001a0009 | a0001c0001a0009c0017 | a0001c0001t0001a0009c0017t0006 | a0001c0001t0001g0031a0001c0001t0001g0032a0009c0017t0006g0224 | 3 | 376 | 0.0080 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.104+2593A>G | ||||||
|
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 | ||||||
|
chr14:50875155
|
T | C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02280.hp2 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0004others(3): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0039others(5): Show | 9 | 376 | 0.0239 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.105-2797T>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 | ||||||
|
chr14:50875758
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(198): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0004others(23): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(186): Show | 201 | 376 | 0.5346 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.105-2194T>G | ||||||
|
chr14:50877866
|
C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(16): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(215): Show | 231 | 376 | 0.6144 | 3 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.105-79_105-77dupAAA | INFO_REALIGN_3_PRIME | |||||
|
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 | ||||||
|
chr14:50879906
|
T | C | intron_variant | MODIFIER | NA19043.hp2 | a0009 | a0009c0017 | a0009c0017t0006 | a0009c0017t0006g0224 | 1 | 376 | 0.0027 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3/12 | c.336-546T>C | ||||||
|
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 | ||||||
|
chr14:50881187
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(337): Show | 361 | 376 | 0.9601 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 4/12 | c.456-409G>A | ||||||
|
chr14:50881429
|
A | AT | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(67): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(15): Show | a0001c0001t0001g0032a0001c0001t0001g0056a0001c0001t0001g0058others(63): Show | 70 | 376 | 0.1862 | 1 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 4/12 | c.456-153dupT | INFO_REALIGN_3_PRIME | |||||
|
chr14:50881494
|
C | T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00597.hp2 others(41): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0006a0001c0011others(7): Show | a0001c0001t0001a0001c0006t0001a0001c0006t0013others(11): Show | a0001c0001t0001g0025a0001c0001t0001g0032a0001c0006t0001g0059others(39): Show | 44 | 376 | 0.1170 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 4/12 | c.456-102C>T | ||||||
|
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 | |||||
|
chr14:50882446
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(333): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(29): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(314): Show | 336 | 376 | 0.8936 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.486+820G>A | ||||||
|
chr14:50882571
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(333): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(29): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(314): Show | 336 | 376 | 0.8936 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.486+945A>G | ||||||
|
chr14:50882582
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(333): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(29): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(314): Show | 336 | 376 | 0.8936 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.486+956G>A | ||||||
|
chr14:50882616
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(333): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(29): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(314): Show | 336 | 376 | 0.8936 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.486+990G>A | ||||||
|
chr14:50882728
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(333): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(29): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(314): Show | 336 | 376 | 0.8936 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.486+1102G>A | ||||||
|
chr14:50882876
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(29): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(316): Show | 338 | 376 | 0.8989 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.486+1250T>C | ||||||
|
chr14:50883038
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(339): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(320): Show | 342 | 376 | 0.9096 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.486+1412T>C | ||||||
|
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 | ||||||
|
chr14:50884702
|
CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02922.hp1 NA19043.hp2 |
a0001a0009 | a0001c0001a0009c0017 | a0001c0001t0003a0009c0017t0006 | a0001c0001t0003g0191a0001c0001t0003g0192a0009c0017t0006g0224 | 3 | 376 | 0.0080 | -19 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-898_487-880delTTTTTTTTTTTTTTTTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr14:50885341
|
G | A | intron_variant | MODIFIER | NA19043.hp2 | a0009 | a0009c0017 | a0009c0017t0006 | a0009c0017t0006g0224 | 1 | 376 | 0.0027 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-273G>A | ||||||
|
chr14:50886518
|
G | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG01167.hp2 others(16): Show |
a0001a0005a0006others(2): Show | a0001c0001a0005c0008a0006c0010others(2): Show | a0001c0001t0001a0005c0008t0002a0006c0010t0001others(2): Show | a0001c0001t0001g0032a0001c0001t0001g0162a0005c0008t0002g0010others(14): Show | 19 | 376 | 0.0505 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 7/12 | c.663-129G>A | ||||||
|
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 | ||||||
|
chr14:50888313
|
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 | ||||||
|
chr14:50888452
|
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 | ||||||
|
chr14:50889405
|
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 | ||||||
|
chr14:50891338
|
G | A | intron_variant | MODIFIER | NA19043.hp2 | a0009 | a0009c0017 | a0009c0017t0006 | a0009c0017t0006g0224 | 1 | 376 | 0.0027 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+2435G>A | ||||||
|
chr14:50891469
|
T | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(87): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0006a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(19): Show | a0001c0001t0001g0025a0001c0001t0001g0102a0001c0001t0001g0119others(81): Show | 90 | 376 | 0.2394 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+2566T>A | ||||||
|
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 | ||||||
|
chr14:50892505
|
C | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(116): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0031a0001c0001t0001g0105a0001c0001t0001g0207others(109): Show | 119 | 376 | 0.3165 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+3602C>T | ||||||
|
chr14:50893009
|
G | A | intron_variant | MODIFIER | NA19043.hp2 | a0009 | a0009c0017 | a0009c0017t0006 | a0009c0017t0006g0224 | 1 | 376 | 0.0027 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+4106G>A | ||||||
|
chr14:50893044
|
C | T | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+4141C>T | ||||||
|
chr14:50893128
|
C | T | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+4225C>T | ||||||
|
chr14:50893133
|
G | A | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+4230G>A | ||||||
|
chr14:50893217
|
C | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(204): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0018a0001c0001t0001g0031a0001c0001t0001g0034others(191): Show | 207 | 376 | 0.5505 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+4314C>A | ||||||
|
chr14:50893520
|
C | T | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+4617C>T | ||||||
|
chr14:50893603
|
G | A | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+4700G>A | ||||||
|
chr14:50893638
|
G | C | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+4735G>C | ||||||
|
chr14:50893640
|
C | T | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+4737C>T | ||||||
|
chr14:50893826
|
A | G | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+4923A>G | ||||||
|
chr14:50893985
|
A | G | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+5082A>G | ||||||
|
chr14:50894147
|
GAGGGGCA others(57): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(24): Show | 27 | 376 | 0.0718 | -64 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+5278_780+5341delTCCTTAGTGGCAAGTCCCGCTTTCCTGGGGCAGGGGCAAGTACCCCTCAACCCCTTCTCCTTCA | INFO_REALIGN_3_PRIME | |||||
|
chr14:50894302
|
T | C | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0013others(9): Show | a0001c0001t0001g0182a0001c0001t0004g0318a0001c0006t0013g0028others(20): Show | 23 | 376 | 0.0612 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+5399T>C | ||||||
|
chr14:50894394
|
C | G | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+5491C>G | ||||||
|
chr14:50894533
|
T | C | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+5630T>C | ||||||
|
chr14:50894732
|
C | A | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+5829C>A | ||||||
|
chr14:50894782
|
C | T | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+5879C>T | ||||||
|
chr14:50894800
|
G | A | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+5897G>A | ||||||
|
chr14:50894838
|
G | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(207): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0018a0001c0001t0001g0031a0001c0001t0001g0034others(194): Show | 210 | 376 | 0.5585 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+5935G>A | ||||||
|
chr14:50894851
|
C | CTTCCTCC others(8): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 15 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+5948_780+5949insTTCCTCCCCAGGTTG | ||||||
|
chr14:50894852
|
C | T | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+5949C>T | ||||||
|
chr14:50894874
|
C | T | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+5971C>T | ||||||
|
chr14:50894876
|
T | C | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+5973T>C | ||||||
|
chr14:50894895
|
T | C | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+5992T>C | ||||||
|
chr14:50894923
|
G | A | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+6020G>A | ||||||
|
chr14:50894947
|
T | C | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(25): Show | 28 | 376 | 0.0745 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+6044T>C | ||||||
|
chr14:50894964
|
C | G | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(20): Show |
a0001a0002a0009 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(20): Show | 23 | 376 | 0.0612 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+6061C>G | ||||||
|
chr14:50895021
|
T | C | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+6118T>C | ||||||
|
chr14:50895029
|
T | C | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+6126T>C | ||||||
|
chr14:50895067
|
A | G | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+6164A>G | ||||||
|
chr14:50895074
|
A | G | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+6171A>G | ||||||
|
chr14:50895132
|
G | A | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+6229G>A | ||||||
|
chr14:50895180
|
C | T | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(25): Show | 28 | 376 | 0.0745 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+6277C>T | ||||||
|
chr14:50895181
|
A | G | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+6278A>G | ||||||
|
chr14:50895208
|
G | C | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+6305G>C | ||||||
|
chr14:50895219
|
C | T | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+6316C>T | ||||||
|
chr14:50895248
|
G | A | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+6345G>A | ||||||
|
chr14:50895252
|
C | T | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+6349C>T | ||||||
|
chr14:50895305
|
A | C | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+6402A>C | ||||||
|
chr14:50895490
|
C | T | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.781-6339C>T | ||||||
|
chr14:50895592
|
C | T | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.781-6237C>T | ||||||
|
chr14:50895636
|
C | T | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0182a0001c0001t0001g0207others(26): Show | 29 | 376 | 0.0771 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.781-6193C>T | ||||||
|
chr14:50896782
|
T | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(100): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0018a0001c0001t0001g0031a0001c0001t0001g0034others(95): Show | 103 | 376 | 0.2739 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.781-5047T>A | ||||||
|
chr14:50896789
|
G | T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(209): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0018a0001c0001t0001g0031a0001c0001t0001g0034others(196): Show | 212 | 376 | 0.5638 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.781-5040G>T | ||||||
|
chr14:50896864
|
C | A | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG02145.hp1 others(17): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0004a0003c0003others(2): Show | a0002c0002t0005a0002c0002t0006a0002c0002t0011others(6): Show | a0002c0002t0005g0022a0002c0002t0005g0024a0002c0002t0005g0153others(17): Show | 20 | 376 | 0.0532 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.781-4965C>A | ||||||
|
chr14:50897071
|
GTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(210): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0018a0001c0001t0001g0031a0001c0001t0001g0034others(197): Show | 213 | 376 | 0.5665 | -2 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.781-4741_781-4740delTT | INFO_REALIGN_3_PRIME | |||||
|
chr14:50897112
|
A | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(105): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0018a0001c0001t0001g0025a0001c0001t0001g0031others(100): Show | 108 | 376 | 0.2872 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.781-4717A>G | ||||||
|
chr14:50897640
|
T | C | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG02145.hp1 others(16): Show |
a0002a0004a0009 | a0002c0002a0002c0004a0004c0007others(1): Show | a0002c0002t0005a0002c0002t0006a0002c0002t0011others(5): Show | a0002c0002t0005g0022a0002c0002t0005g0024a0002c0002t0005g0153others(16): Show | 19 | 376 | 0.0505 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.781-4189T>C | ||||||
|
chr14:50897764
|
G | A | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG02145.hp1 others(16): Show |
a0002a0004a0009 | a0002c0002a0002c0004a0004c0007others(1): Show | a0002c0002t0005a0002c0002t0006a0002c0002t0011others(5): Show | a0002c0002t0005g0022a0002c0002t0005g0024a0002c0002t0005g0153others(16): Show | 19 | 376 | 0.0505 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.781-4065G>A | ||||||
|
chr14:50898630
|
C | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(125): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0004others(5): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0005others(12): Show | a0001c0001t0001g0105a0002c0002t0002g0001a0002c0002t0002g0003others(117): Show | 128 | 376 | 0.3404 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.781-3199C>T | ||||||
|
chr14:50899013
|
C | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(125): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0004others(5): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0005others(12): Show | a0001c0001t0001g0105a0002c0002t0002g0001a0002c0002t0002g0003others(117): Show |