| geneid | 65985 |
|---|---|
| ensemblid | ENSG00000081760.17 |
| hgncid | 21298 |
| symbol | AACS |
| name | acetoacetyl-CoA synthetase |
| refseq_nuc | NM_023928.5 |
| refseq_prot | NP_076417.2 |
| ensembl_nuc | ENST00000316519.11 |
| ensembl_prot | ENSP00000324842.6 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 125065435 |
| end | 125143316 |
| strand | + |
| ver | v1.2 |
| region | chr12:125065435-125143316 |
| region5000 | chr12:125060435-125148316 |
| regionname0 | AACS_chr12_125065435_125143316 |
| regionname5000 | AACS_chr12_125060435_125148316 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:125066450
|
A | ATT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(85): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012others(83): Show | 88 | 364 | 0.2418 | 2 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.133+750_133+751dupTT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125067634
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(73): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0005a0001c0001t0001g0097a0001c0001t0001g0275others(72): Show | 76 | 364 | 0.2088 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.133+1917C>T | ||||||
|
chr12:125067834
|
G | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(73): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0005a0001c0001t0001g0097a0001c0001t0001g0275others(72): Show | 76 | 364 | 0.2088 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.133+2117G>T | ||||||
|
chr12:125068319
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(281): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(276): Show | 284 | 364 | 0.7802 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.133+2602T>C | ||||||
|
chr12:125068364
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(279): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(274): Show | 282 | 364 | 0.7747 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.133+2647T>C | ||||||
|
chr12:125068843
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(277): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(272): Show | 280 | 364 | 0.7692 | -1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.133+3140delT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125069809
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(68): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0275a0001c0001t0001g0281others(67): Show | 71 | 364 | 0.1951 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-4067A>G | ||||||
|
chr12:125069974
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(143): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0005a0001c0001t0001g0275a0001c0001t0001g0281others(140): Show | 146 | 364 | 0.4011 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-3902A>G | ||||||
|
chr12:125070576
|
G | A | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 364 | 0.0028 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-3300G>A | ||||||
|
chr12:125070693
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(162): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0003a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0030others(158): Show | 165 | 364 | 0.4533 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-3183A>G | ||||||
|
chr12:125070767
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(67): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0275a0001c0001t0001g0281others(66): Show | 70 | 364 | 0.1923 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-3109A>C | ||||||
|
chr12:125070916
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(67): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0275a0001c0001t0001g0281others(66): Show | 70 | 364 | 0.1923 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-2960G>A | ||||||
|
chr12:125071879
|
CAG | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(81): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0030others(79): Show | 84 | 364 | 0.2308 | -2 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-1994_134-1993delAG | INFO_REALIGN_3_PRIME | |||||
|
chr12:125072157
|
C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(79): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0005a0001c0001t0001g0251a0001c0001t0001g0275others(78): Show | 82 | 364 | 0.2253 | 1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-1704dupT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125072485
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(345): Show | 353 | 364 | 0.9698 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-1391C>T | ||||||
|
chr12:125072919
|
GTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(171): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0028others(168): Show | 174 | 364 | 0.4780 | -2 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-932_134-931delTT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125072928
|
T | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(70): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0030a0001c0001t0001g0031others(69): Show | 73 | 364 | 0.2006 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-948T>G | ||||||
|
chr12:125072934
|
T | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(66): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0275a0001c0001t0001g0281others(65): Show | 69 | 364 | 0.1896 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-942T>G | ||||||
|
chr12:125072950
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(284): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(279): Show | 287 | 364 | 0.7885 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-926T>C | ||||||
|
chr12:125073163
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(278): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0028others(273): Show | 281 | 364 | 0.7720 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-713G>C | ||||||
|
chr12:125074956
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(72): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0030a0001c0001t0001g0031others(71): Show | 75 | 364 | 0.2060 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | c.237+977G>A | ||||||
|
chr12:125075722
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(68): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0275a0001c0001t0001g0281others(67): Show | 71 | 364 | 0.1951 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | c.238-769C>G | ||||||
|
chr12:125077585
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(72): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0030a0001c0001t0001g0031others(71): Show | 75 | 364 | 0.2060 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+974T>C | ||||||
|
chr12:125078238
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(72): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0030a0001c0001t0001g0031others(71): Show | 75 | 364 | 0.2060 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+1627C>T | ||||||
|
chr12:125078263
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(352): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(347): Show | 355 | 364 | 0.9753 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+1652G>A | ||||||
|
chr12:125078420
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(288): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(283): Show | 291 | 364 | 0.7995 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+1809T>G | ||||||
|
chr12:125078820
|
CAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(65): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0031a0001c0001t0001g0281others(64): Show | 68 | 364 | 0.1868 | -2 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+2233_358+2234delAA | INFO_REALIGN_3_PRIME | |||||
|
chr12:125079678
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(288): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(283): Show | 291 | 364 | 0.7995 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+3067T>C | ||||||
|
chr12:125079817
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(68): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0275a0001c0001t0001g0281others(67): Show | 71 | 364 | 0.1951 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+3206C>T | ||||||
|
chr12:125080201
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(74): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0030a0001c0001t0001g0031others(72): Show | 77 | 364 | 0.2115 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+3590G>A | ||||||
|
chr12:125080406
|
C | T | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 364 | 0.0028 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+3795C>T | ||||||
|
chr12:125080641
|
C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 2 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+4031_358+4032dupTT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125081404
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(156): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012others(153): Show | 159 | 364 | 0.4368 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+4793A>G | ||||||
|
chr12:125082171
|
AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(345): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(340): Show | 348 | 364 | 0.9560 | -1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-4142delT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125082566
|
AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | -1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-3763delT | ||||||
|
chr12:125083333
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(281): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(276): Show | 284 | 364 | 0.7802 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-2997A>T | ||||||
|
chr12:125083425
|
C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(68): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0275a0001c0001t0001g0281others(67): Show | 71 | 364 | 0.1951 | 1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-2904dupT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125084099
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-2231C>G | ||||||
|
chr12:125084100
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-2230A>G | ||||||
|
chr12:125084317
|
C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(75): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012others(74): Show | 78 | 364 | 0.2143 | 1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-2002dupA | INFO_REALIGN_3_PRIME | |||||
|
chr12:125084578
|
AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(154): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0009others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012others(151): Show | 157 | 364 | 0.4313 | -1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-1736delT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125085249
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(108): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0028others(106): Show | 111 | 364 | 0.3050 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-1081T>C | ||||||
|
chr12:125085514
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(349): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012others(345): Show | 352 | 364 | 0.9670 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-816A>G | ||||||
|
chr12:125085651
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(330): Show | 338 | 364 | 0.9286 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-679C>T | ||||||
|
chr12:125085681
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012others(346): Show | 353 | 364 | 0.9698 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-649C>A | ||||||
|
chr12:125088524
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(199): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0030others(197): Show | 202 | 364 | 0.5550 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.472+2081C>T | ||||||
|
chr12:125090139
|
ACC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | -2 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1286_473-1285delCC | ||||||
|
chr12:125090142
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1284A>T | ||||||
|
chr12:125090168
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | -1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1257delT | ||||||
|
chr12:125090189
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1237C>T | ||||||
|
chr12:125090191
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1235T>C | ||||||
|
chr12:125090197
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1229C>T | ||||||
|
chr12:125090207
|
T | TCATCCAT others(145): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(350): Show | 358 | 364 | 0.9835 | 152 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1219_473-1218insCATCCATACATTCATCTATCTTCCACCCATCATCTACCCTCCACCCATCATCTACCCATTCATCCATCCATCCTCCATTCATCATCCCTCATCCATCATTTATCCAACTATCCATCCATCTGTCTACACATTCTTCTCTCCACCTACCCATC | ||||||
|
chr12:125090208
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1218T>C | ||||||
|
chr12:125090216
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1210T>C | ||||||
|
chr12:125090228
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1198T>C | ||||||
|
chr12:125090230
|
T | TC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1196_473-1195insC | ||||||
|
chr12:125090233
|
TG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | -1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1192delG | ||||||
|
chr12:125092725
|
T | TG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(342): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(337): Show | 345 | 364 | 0.9478 | 1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.570+1202_570+1203insG | ||||||
|
chr12:125094216
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(342): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(337): Show | 345 | 364 | 0.9478 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.570+2693T>C | ||||||
|
chr12:125094978
|
CGTGTGTG others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(163): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0030others(161): Show | 166 | 364 | 0.4560 | -16 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.570+3486_570+3501delGTGTGTGTGTGTGTGT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125095134
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(192): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0030others(190): Show | 195 | 364 | 0.5357 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.570+3611A>G | ||||||
|
chr12:125097652
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(339): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(334): Show | 342 | 364 | 0.9396 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-5027G>T | ||||||
|
chr12:125097845
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00558.hp1 others(189): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0030others(187): Show | 192 | 364 | 0.5275 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-4834C>T | ||||||
|
chr12:125098713
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(345): Show | 353 | 364 | 0.9698 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-3966G>A | ||||||
|
chr12:125098714
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(190): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0005a0001c0001t0001g0030a0001c0001t0001g0031others(188): Show | 193 | 364 | 0.5302 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-3965G>A | ||||||
|
chr12:125099796
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(191): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0005a0001c0001t0001g0030a0001c0001t0001g0031others(189): Show | 194 | 364 | 0.5330 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-2883C>T | ||||||
|
chr12:125101762
|
C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(298): Show | 306 | 364 | 0.8407 | 1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-895dupT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125103987
|
C | CAA | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00642.hp1 others(41): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0030a0001c0001t0001g0062a0001c0001t0001g0067others(41): Show | 44 | 364 | 0.1209 | 2 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.767+937_767+938dupAA | INFO_REALIGN_3_PRIME | |||||
|
chr12:125110189
|
TTGTG | T | intron_variant | MODIFIER | HG01071.hp1 HG01891.hp2 HG02148.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0001c0001t0011a0002c0002t0001others(1): Show | a0001c0001t0001g0283a0001c0001t0001g0319a0001c0001t0011g0108others(4): Show | 7 | 364 | 0.0192 | -4 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | c.915+2979_915+2982delGTGT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125117523
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(359): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(354): Show | 362 | 364 | 0.9945 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | c.997-1118A>G | ||||||
|
chr12:125119096
|
G | A | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 364 | 0.0028 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 10/17 | c.1121+331G>A | ||||||
|
chr12:125123081
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(359): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(354): Show | 362 | 364 | 0.9945 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 10/17 | c.1122-1624T>C | ||||||
|
chr12:125131745
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(107): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0018others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0061others(106): Show | 110 | 364 | 0.3022 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 14/17 | c.1550-2258C>T |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AACS | 1/0 | a0001 | 672 | 273 | 54 | 58 | 120 | 12 | 28 | subcellular location copy fasta | chr12 | 125060435 | 125148316 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AACS | 1/0 | c0001 | 2019 | 226 | 45 | 58 | 84 | 12 | 26 | copy fasta | chr12 | 125060435 | 125148316 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AACS | 1/0 | t0001 | 1238 | 216 | 81 | 36 | 67 | 4 | 27 | copy fasta | chr12 | 125060435 | 125148316 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AACS | 0/0 | g0283 | 1 | 0 | 1 | 0 | 0 | 0 | chr12 | 125060435 | 125148316 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AACS | 1/0 | a0001c0001 | 226 | 45 | 58 | 84 | 12 | 26 | 2019 | copy fasta | chr12 | 125060435 | 125148316 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AACS | 1/0 | a0001c0001t0001 | 109 | 37 | 24 | 28 | 2 | 17 | 3256 | copy fasta | chr12 | 125060435 | 125148316 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AACS | 0/0 | a0001c0001t0001g0283 | 1 | 0 | 1 | 0 | 0 | 0 | chr12 | 125060435 | 125148316 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 125065717 | + | 1 | -0.9854 | -0.9854 | -0.9854 | 0.0000 | acceptor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125073876 | + | 2 | 0.9862 | 0.9862 | 0.9862 | 0.0000 | donor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125073979 | + | 2 | -0.9916 | -0.9916 | -0.9916 | 0.0000 | acceptor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125076491 | + | 3 | 0.9991 | 0.9991 | 0.9991 | 0.0000 | donor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125076611 | + | 3 | -0.9994 | -0.9994 | -0.9994 | 0.0000 | acceptor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125086330 | + | 4 | 0.9961 | 0.9961 | 0.9961 | 0.0000 | donor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125086443 | + | 4 | -0.9986 | -0.9986 | -0.9986 | 0.0000 | acceptor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125091426 | + | 5 | 0.9883 | 0.9883 | 0.9883 | 0.0000 | donor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125091523 | + | 5 | -0.9831 | -0.9831 | -0.9831 | 0.0000 | acceptor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125102679 | + | 6 | 0.9940 | 0.9940 | 0.9940 | 0.0000 | donor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125102793 | + | 6 | -0.9950 | -0.9950 | -0.9950 | 0.0000 | acceptor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125103000 | + | 7 | 0.9987 | 0.9987 | 0.9987 | 0.0000 | donor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125103081 | + | 7 | -0.9959 | -0.9959 | -0.9959 | 0.0000 | acceptor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125107121 | + | 8 | 0.8263 | 0.8263 | 0.8263 | 0.0000 | donor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125107268 | + | 8 | -0.8479 | -0.8478 | -0.8479 | 0.0000 | acceptor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125114477 | + | 9 | 0.9897 | 0.9897 | 0.9897 | 0.0000 | donor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125114557 | + | 9 | -0.9966 | -0.9966 | -0.9966 | 0.0000 | acceptor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125118641 | + | 10 | 0.9926 | 0.9926 | 0.9926 | 0.0000 | donor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125118765 | + | 10 | -0.9953 | -0.9952 | -0.9953 | 0.0000 | acceptor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125124705 | + | 11 | 0.5165 | 0.5165 | 0.5165 | 0.0000 | donor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125124769 | + | 11 | -0.5955 | -0.5955 | -0.5955 | 0.0000 | acceptor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125124902 | + | 12 | 0.6295 | 0.6295 | 0.6295 | 0.0000 | donor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125125024 | + | 12 | -0.6920 | -0.6920 | -0.6920 | 0.0000 | acceptor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125128161 | + | 13 | 0.9435 | 0.9435 | 0.9435 | 0.0000 | donor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125128274 | + | 13 | -0.7048 | -0.7048 | -0.7048 | 0.0000 | acceptor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125129335 | + | 14 | 0.6063 | 0.6063 | 0.6063 | 0.0000 | donor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125129460 | + | 14 | -0.5487 | -0.5487 | -0.5487 | 0.0000 | acceptor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125134003 | + | 15 | 0.9978 | 0.9978 | 0.9978 | 0.0000 | donor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125134072 | + | 15 | -0.9984 | -0.9984 | -0.9984 | 0.0000 | acceptor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125134794 | + | 16 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125134852 | + | 16 | -0.9978 | -0.9978 | -0.9978 | 0.0000 | acceptor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125136662 | + | 17 | 0.9915 | 0.9915 | 0.9915 | 0.0000 | donor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125136864 | + | 17 | -0.6958 | -0.6958 | -0.6958 | 0.0000 | acceptor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125142092 | + | 18 | 0.9529 | 0.9529 | 0.9529 | 0.0000 | donor | a0001c0001t0001g0283 | HG01071.hp1 | HG01071.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:125062029
|
c.-3556C>T | Bipolar disorder (body mass index interaction)others(6): Show | a0001a0004 | a0001c0001a0001c0003a0001c0004a0004c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0003t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0080a0001c0001t0001g0275a0001c0001t0001g0281a0001c0001t0001g0282others(61): Show | HG00099.hp2 HG00323.hp1 HG00558.hp1 HG01071.hp1 HG01099.hp1 others(62): Show |
Genome-wide association study of bipolar disorder others(80): Show |
388 European ancestry cases, 1,020 European ancest others(12): Show |
NR | BRI3BP - AACS | rs12300899-? | + | MODIFIER | chr12 | C | T |
|
chr12:125080201
|
c.358+3590G>A | Height0.0074 | a0001a0002a0004a0006 | a0001c0001a0001c0003a0001c0004a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0003t0001others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0275a0001c0001t0001g0281others(70): Show | HG00099.hp2 HG00323.hp1 HG00558.hp1 HG01071.hp1 HG01099.hp1 others(72): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
AACS | rs7311550-A | + | MODIFIER | chr12 | G | A |
| 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
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 125092725:splice 125092725:variant goto | AACSintron_variantc.570+1202_570+1203ins others(6): Show |
TMEM132B Nerve_Tibial 4.385 -0.242 | 102439340 | a0001a0002a0003a0004a0005others(5): Show | a0001c0001a0001c0003a0001c0004a0001c0008a0001c0009others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0006others(34): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013others(335): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 others(340): Show |
0.954 | 59 | 61 | 10 | chr12_125092725_T_TG_b38 | + | MODIFIER | chr12 | T | TG | TogoVar |
| 125094216:splice 125094216:variant goto | AACSintron_variantc.570+2693T>C | TMEM132B Nerve_Tibial 4.385 -0.242 | 102439340 | a0001a0002a0003a0004a0005others(5): Show | a0001c0001a0001c0003a0001c0004a0001c0008a0001c0009others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0006others(34): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013others(335): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 others(340): Show |
0.954 | 59 | 61 | 10 | chr12_125094216_T_C_b38 | + | MODIFIER | chr12 | T | C | TogoVar |
| 125098713:splice 125098713:variant goto | AACSintron_variantc.571-3966G>A | TMEM132B Nerve_Tibial 5.625 -0.300 | 102641348 | a0001a0002a0003a0004a0005others(5): Show | a0001c0001a0001c0003a0001c0004a0001c0008a0001c0009others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0006others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013others(343): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 others(348): Show |
0.958 | 56 | 56 | 10 | chr12_125098713_G_A_b38 | + | MODIFIER | chr12 | G | A | TogoVar |
| 125097652:splice 125097652:variant goto | AACSintron_variantc.571-5027G>T | TMEM132B Nerve_Tibial 4.395 -0.237 | 102640337 | a0001a0002a0003a0004a0005others(5): Show | a0001c0001a0001c0003a0001c0004a0001c0008a0001c0009others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0006others(35): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013others(332): Show |