| geneid | 343066 |
|---|---|
| ensemblid | ENSG00000204518.3 |
| hgncid | 32038 |
| symbol | AADACL4 |
| name | arylacetamide deacetylase like 4 |
| refseq_nuc | NM_001013630.2 |
| refseq_prot | NP_001013652.1 |
| ensembl_nuc | ENST00000376221.2 |
| ensembl_prot | ENSP00000365395.1 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 12644085 |
| end | 12667076 |
| strand | + |
| ver | v1.2 |
| region | chr1:12644085-12667076 |
| region5000 | chr1:12639085-12672076 |
| regionname0 | AADACL4_chr1_12644085_12667076 |
| regionname5000 | AADACL4_chr1_12639085_12672076 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:12644971
|
T | C | intron_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG01261.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(36): Show | 42 | 310 | 0.1355 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | c.168+257T>C | ||||||
|
chr1:12645273
|
T | C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02559.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(11): Show | 14 | 310 | 0.0452 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | c.168+559T>C | ||||||
|
chr1:12645450
|
C | CT | intron_variant | MODIFIER | HG00323.hp2 HG01884.hp2 HG02280.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(18): Show | 21 | 310 | 0.0677 | 1 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | c.168+738dupT | INFO_REALIGN_3_PRIME | |||||
|
chr1:12646340
|
C | T | intron_variant | MODIFIER | HG00323.hp2 HG01175.hp2 HG01884.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0047others(18): Show | 21 | 310 | 0.0677 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | c.168+1626C>T | ||||||
|
chr1:12646438
|
C | T | intron_variant | MODIFIER | HG00323.hp2 HG01175.hp2 HG01884.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0009 | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0047others(12): Show | 15 | 310 | 0.0484 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | c.168+1724C>T | ||||||
|
chr1:12646492
|
A | G | intron_variant | MODIFIER | HG00323.hp2 HG01175.hp2 HG01884.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0047others(32): Show | 35 | 310 | 0.1129 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | c.168+1778A>G | ||||||
|
chr1:12647963
|
C | T | intron_variant | MODIFIER | HG00323.hp2 HG01175.hp2 HG01884.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0012others(1): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(20): Show | 23 | 310 | 0.0742 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | c.169-3160C>T | ||||||
|
chr1:12648216
|
T | C | intron_variant | MODIFIER | HG00323.hp2 HG01175.hp2 HG01884.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(38): Show | 41 | 310 | 0.1323 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | c.169-2907T>C | ||||||
|
chr1:12648388
|
C | CCTTCCTT others(9): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01884.hp2 HG02145.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(7): Show | 10 | 310 | 0.0323 | 16 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | c.169-2732_169-2731insCCTTCCTTTCTTTCTT | INFO_REALIGN_3_PRIME | |||||
|
chr1:12648484
|
T | C | intron_variant | MODIFIER | HG00323.hp2 HG01175.hp2 HG01884.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(3): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(24): Show | 27 | 310 | 0.0871 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | c.169-2639T>C | ||||||
|
chr1:12648525
|
C | T | intron_variant | MODIFIER | HG00323.hp2 HG01175.hp2 HG01884.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0012others(1): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(21): Show | 24 | 310 | 0.0774 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | c.169-2598C>T | ||||||
|
chr1:12648932
|
T | C | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG01884.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(31): Show | 34 | 310 | 0.1097 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | c.169-2191T>C | ||||||
|
chr1:12649535
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(216): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(185): Show | 219 | 310 | 0.7065 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | c.169-1588A>G | ||||||
|
chr1:12649630
|
A | G | intron_variant | MODIFIER | HG00323.hp2 HG01175.hp2 HG01884.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(6): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(36): Show | 39 | 310 | 0.1258 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | c.169-1493A>G | ||||||
|
chr1:12651673
|
C | T | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG01884.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(28): Show | 31 | 310 | 0.1000 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.385+334C>T | ||||||
|
chr1:12651828
|
A | ATTT | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02055.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(13): Show | 16 | 310 | 0.0516 | 3 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.385+505_385+507dupTTT | INFO_REALIGN_3_PRIME | |||||
|
chr1:12652354
|
A | G | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01175.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(40): Show | 43 | 310 | 0.1387 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.385+1015A>G | ||||||
|
chr1:12652370
|
T | A | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG01884.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(6): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(31): Show | 34 | 310 | 0.1097 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.385+1031T>A | ||||||
|
chr1:12654353
|
G | A | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0009 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(6): Show | 9 | 310 | 0.0290 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.385+3014G>A | ||||||
|
chr1:12654482
|
G | C | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp2 HG02145.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0009 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(10): Show | 13 | 310 | 0.0419 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.385+3143G>C | ||||||
|
chr1:12654860
|
A | AG | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG01884.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(19): Show | 22 | 310 | 0.0710 | 1 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.385+3525dupG | INFO_REALIGN_3_PRIME | |||||
|
chr1:12656303
|
A | G | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG01109.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(43): Show | 46 | 310 | 0.1484 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.385+4964A>G | ||||||
|
chr1:12656685
|
C | T | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG01884.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(19): Show | 22 | 310 | 0.0710 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.386-5106C>T | ||||||
|
chr1:12656921
|
G | T | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0009 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(6): Show | 9 | 310 | 0.0290 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.386-4870G>T | ||||||
|
chr1:12657396
|
G | A | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG01884.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(19): Show | 22 | 310 | 0.0710 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.386-4395G>A | ||||||
|
chr1:12657725
|
T | A | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG01109.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(43): Show | 46 | 310 | 0.1484 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.386-4066T>A | ||||||
|
chr1:12658067
|
CTCTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG01433.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(26): Show | 29 | 310 | 0.0936 | -4 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.386-3704_386-3701delTTCT | INFO_REALIGN_3_PRIME | |||||
|
chr1:12658108
|
T | C | intron_variant | MODIFIER | HG00323.hp2 HG01175.hp2 HG01884.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(24): Show | 27 | 310 | 0.0871 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.386-3683T>C | ||||||
|
chr1:12658131
|
C | T | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG01884.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(20): Show | 23 | 310 | 0.0742 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.386-3660C>T | ||||||
|
chr1:12658139
|
C | T | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG01884.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(27): Show | 30 | 310 | 0.0968 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.386-3652C>T | ||||||
|
chr1:12658166
|
T | TTCTTTCT others(35): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 310 | 0.0032 | 42 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.386-3624_386-3623insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT | INFO_REALIGN_3_PRIME | |||||
|
chr1:12658204
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00642.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(43): Show | 46 | 310 | 0.1484 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.386-3587T>C | ||||||
|
chr1:12660089
|
G | A | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG01109.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(45): Show | 48 | 310 | 0.1548 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.386-1702G>A | ||||||
|
chr1:12660156
|
T | C | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01884.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(32): Show | 35 | 310 | 0.1129 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.386-1635T>C | ||||||
|
chr1:12660203
|
T | C | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01884.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(32): Show | 35 | 310 | 0.1129 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.386-1588T>C | ||||||
|
chr1:12660264
|
T | G | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01884.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(33): Show | 36 | 310 | 0.1161 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.386-1527T>G | ||||||
|
chr1:12660467
|
T | G | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01884.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(31): Show | 34 | 310 | 0.1097 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.386-1324T>G | ||||||
|
chr1:12662017
|
A | G | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG01109.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(46): Show | 49 | 310 | 0.1581 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 3/3 | c.449+163A>G | ||||||
|
chr1:12662400
|
C | G | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00741.hp2 others(69): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0028others(64): Show | 72 | 310 | 0.2323 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 3/3 | c.449+546C>G | ||||||
|
chr1:12663442
|
T | A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00642.hp1 others(70): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0028others(65): Show | 73 | 310 | 0.2355 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 3/3 | c.449+1588T>A | ||||||
|
chr1:12664376
|
C | CT | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(4): Show | 7 | 310 | 0.0226 | 1 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 3/3 | c.450-1575dupT | INFO_REALIGN_3_PRIME | |||||
|
chr1:12664920
|
G | A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00642.hp1 others(70): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0028others(65): Show | 73 | 310 | 0.2355 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 3/3 | c.450-1041G>A | ||||||
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chr1:12665505
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A | G | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00642.hp1 others(69): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0028others(64): Show | 72 | 310 | 0.2323 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 3/3 | c.450-456A>G | ||||||
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chr1:12665932
|
T | C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00642.hp1 others(70): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0028others(65): Show | 73 | 310 | 0.2355 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 3/3 | c.450-29T>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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL4 | 1/1 | a0001 | 407 | 308 | 80 | 64 | 124 | 10 | 28 | subcellular location copy fasta | chr1 | 12639085 | 12672076 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL4 | 1/1 | c0001 | 1224 | 290 | 64 | 62 | 124 | 10 | 28 | copy fasta | chr1 | 12639085 | 12672076 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL4 | 1/1 | t0001 | 804 | 262 | 44 | 60 | 126 | 9 | 21 | copy fasta | chr1 | 12639085 | 12672076 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL4 | 0/0 | g0047 | 1 | 1 | 0 | 0 | 0 | 0 | chr1 | 12639085 | 12672076 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL4 | 1/1 | a0001c0001 | 290 | 64 | 62 | 124 | 10 | 28 | 1224 | copy fasta | chr1 | 12639085 | 12672076 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL4 | 1/1 | a0001c0001t0001 | 252 | 38 | 58 | 124 | 9 | 21 | 2027 | copy fasta | chr1 | 12639085 | 12672076 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL4 | 0/0 | a0001c0001t0001g0047 | 1 | 1 | 0 | 0 | 0 | 0 | chr1 | 12639085 | 12672076 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 12644714 | + | 1 | -0.2882 | -0.2882 | -0.2882 | 0.0000 | acceptor | a0001c0001t0001g0047 | HG01884.hp2 | HG01884.hp2 | AADACL4 | chr1 | 12639085 | 12672076 |
| 12651123 | + | 2 | 0.9816 | 0.9816 | 0.9816 | 0.0000 | donor | a0001c0001t0001g0047 | HG01884.hp2 | HG01884.hp2 | AADACL4 | chr1 | 12639085 | 12672076 |
| 12651339 | + | 2 | -0.9865 | -0.9865 | -0.9865 | 0.0000 | acceptor | a0001c0001t0001g0047 | HG01884.hp2 | HG01884.hp2 | AADACL4 | chr1 | 12639085 | 12672076 |
| 12661791 | + | 3 | 0.6497 | 0.6497 | 0.6497 | 0.0000 | donor | a0001c0001t0001g0047 | HG01884.hp2 | HG01884.hp2 | AADACL4 | chr1 | 12639085 | 12672076 |
| 12661854 | + | 3 | -0.8480 | -0.8480 | -0.8480 | 0.0000 | acceptor | a0001c0001t0001g0047 | HG01884.hp2 | HG01884.hp2 | AADACL4 | chr1 | 12639085 | 12672076 |
| 12665961 | + | 4 | 0.9692 | 0.9692 | 0.9692 | 0.0000 | donor | a0001c0001t0001g0047 | HG01884.hp2 | HG01884.hp2 | AADACL4 | chr1 | 12639085 | 12672076 |
| 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
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ACHAPIDS achapids
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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
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:12648932
|
c.169-2191T>C | RS-warfarin levels0.29999 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0011a0001c0002t0001a0001c0002t0004others(5): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0047others(29): Show | HG01175.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 others(29): Show |
A genome-wide association study of plasma concentr others(85): Show |
524 Sub-Saharan African ancestry individuals/ | AADACL4 | rs17038227-? | + | MODIFIER | chr1 | T | C |
| pos | genenamehgvs_chgvs_pannotation | tissueexpression gene-log10(pval)slope Tissue name in GTEx database(the target eQTL tissue name of the GTEx database)The -log10(nominal pvalue) in GTEx databaseSlope in GTEx database (positive value:alt allele has higher gene expression) |
ahapidchapidthapidghapid ahapid_countchapid_countthapid_countghapid_count
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AHAPIDS ahapids
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ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
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haplotypeids haplotypeids
|
af allele frequency in GTEx database |
ms The number of samples with minor allele in GTEx database |
ma The number of minor allele count in GTEx database |
ver GTEx version |
vid Variant ID in GTEx database |
strand strand
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 12649535:splice 12649535:variant goto | AADACL4intron_variantc.169-1588A>G | DHRS3 Skin_Not_Sun_Exposed_Suprapubic 3.989 -0.117 | 3719188 | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(183): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 others(214): Show |
0.779 | 252 | 287 | 10 | chr1_12649535_A_G_b38 | + | MODIFIER | chr1 | A | G | TogoVar |
| 12664920:splice 12664920:variant goto | AADACL4intron_variantc.450-1041G>A | AADACL4 Adipose_Visceral_Omentum 4.453 -0.243 | 141168 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0011a0001c0002t0001others(6): Show | a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0037others(63): Show | HG00323.hp2 HG00438.hp2 HG00642.hp1 HG00741.hp2 HG01109.hp1 others(68): Show |
0.119 | 122 | 139 | 10 | chr1_12664920_G_A_b38 | + | MODIFIER | chr1 | G | A | TogoVar |
| 12665932:splice 12665932:variant goto | AADACL4intron_variantc.450-29T>C | AADACL4 Adipose_Visceral_Omentum 4.317 -0.238 | 141168 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0011a0001c0002t0001others(6): Show | a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0037others(63): Show | HG00323.hp2 HG00438.hp2 HG00642.hp1 HG00741.hp2 HG01109.hp1 others(68): Show |
0.118 | 121 | 138 | 10 | chr1_12665932_T_C_b38 | + | MODIFIER | chr1 | T | C | TogoVar |
| 12652370:splice 12652370:variant goto | AADACL4intron_variantc.385+1031T>A | CLCN6 Heart_Atrial_Appendage 4.411 -0.437 | 14934 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0011a0001c0002t0001a0001c0002t0004others(4): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0047others(29): Show | HG01109.hp1 HG01175.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 others(29): Show |
0.029 | 25 | 27 | 10 | chr1_12652370_T_A_b38 | + | MODIFIER | chr1 | T | A | TogoVar |
| 12652370:splice 12652370:variant goto | AADACL4intron_variantc.385+1031T>A | AGTRAP Nerve_Tibial 3.938 -0.233 | 14934 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0011a0001c0002t0001a0001c0002t0004others(4): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0047others(29): Show | HG01109.hp1 HG01175.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 others(29): Show |
0.038 | 46 | 51 | 10 | chr1_12652370_T_A_b38 | + | MODIFIER | chr1 | T | A | TogoVar |
| 12656685:splice 12656685:variant goto | AADACL4intron_variantc.386-5106C>T | MIIP Artery_Tibial 3.917 -0.345 | 13522 | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0002t0004a0001c0003t0009 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0047others(17): Show | HG01175.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 others(17): Show |
0.018 | 25 | 25 | 10 | chr1_12656685_C_T_b38 | + | MODIFIER | chr1 | C | T | TogoVar |
| 12657396:splice 12657396:variant goto | AADACL4intron_variantc.386-4395G>A | MIIP Artery_Tibial 3.917 -0.345 | 13522 | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0002t0004a0001c0003t0009 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0047others(17): Show | HG01175.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 others(17): Show |
0.018 | 25 | 25 | 10 | chr1_12657396_G_A_b38 | + | MODIFIER | chr1 | G | A | TogoVar |
| 12654860:splice 12654860:variant goto | AADACL4intron_variantc.385+3525dupG | MTHFR Adipose_Visceral_Omentum 4.223 -0.507 | 13522 | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0002t0004a0001c0003t0009 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0047others(17): Show | HG01175.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 others(17): Show |
0.013 | 15 | 15 | 10 | chr1_12654860_A_AG_b38 | + | MODIFIER | chr1 | A | AG | TogoVar |