| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:125072485
|
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
|
G | GT | intron_variant | MODIFIER | HG01109.hp1 HG01168.hp2 HG01975.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0004 | a0001c0001t0001g0035a0001c0001t0001g0039a0001c0001t0001g0078others(9): Show | 12 | 364 | 0.0330 | 1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-931dupT | INFO_REALIGN_3_PRIME | |||||
|
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 | ||||||
|
chr12:125080641
|
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 | |||||
|
chr12:125082171
|
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 | ||||||
|
chr12:125084099
|
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 | ||||||
|
chr12:125085249
|
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 | ||||||
|
chr12:125085630
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG00642.hp1 others(137): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0038others(135): Show | 140 | 364 | 0.3846 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-700T>C | ||||||
|
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 | ||||||
|
chr12:125086818
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(50): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0038others(49): Show | 53 | 364 | 0.1456 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.472+375A>G | ||||||
|
chr12:125088224
|
C | CT | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01069.hp1 others(12): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0002g0002others(11): Show | 15 | 364 | 0.0412 | 1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.472+1800dupT | INFO_REALIGN_3_PRIME | |||||
|
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 | ||||||
|
chr12:125100204
|
C | G | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 364 | 0.0028 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-2475C>G | ||||||
|
chr12:125101547
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(25): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0038others(24): Show | 28 | 364 | 0.0769 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-1132G>A | ||||||
|
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 | CA | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01109.hp1 others(37): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0039a0001c0001t0001g0078a0001c0001t0001g0079others(37): Show | 40 | 364 | 0.1099 | 1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.767+938dupA | INFO_REALIGN_3_PRIME | |||||
|
chr12:125107658
|
G | C | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0066a0001c0001t0001g0067others(3): Show | 6 | 364 | 0.0165 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | c.915+390G>C | ||||||
|
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 | ||||||
|
chr12:125123081
|
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 | ||||||
|
chr12:125133371
|
T | G | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01361.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0002c0002t0001a0002c0007t0001 | a0001c0001t0001g0010a0001c0001t0001g0078a0001c0001t0001g0079others(18): Show | 21 | 364 | 0.0577 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 14/17 | c.1550-632T>G | ||||||
|
chr12:125134198
|
A | G | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01361.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0078a0001c0001t0001g0097others(12): Show | 16 | 364 | 0.0440 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 15/17 | c.1619+126A>G |
| 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 | g0078 | 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 | a0001c0001t0001g0078 | 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 | -0.9869 | -0.9869 | -0.9869 | 0.0000 | acceptor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125073876 | + | 2 | 0.9861 | 0.9861 | 0.9861 | 0.0000 | donor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125073979 | + | 2 | -0.9917 | -0.9917 | -0.9917 | 0.0000 | acceptor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125076491 | + | 3 | 0.9991 | 0.9991 | 0.9991 | 0.0000 | donor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125076611 | + | 3 | -0.9994 | -0.9994 | -0.9994 | 0.0000 | acceptor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125086330 | + | 4 | 0.9962 | 0.9962 | 0.9962 | 0.0000 | donor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125086443 | + | 4 | -0.9986 | -0.9986 | -0.9986 | 0.0000 | acceptor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125091426 | + | 5 | 0.9883 | 0.9883 | 0.9883 | 0.0000 | donor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125091523 | + | 5 | -0.9831 | -0.9831 | -0.9831 | 0.0000 | acceptor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125102679 | + | 6 | 0.9941 | 0.9941 | 0.9941 | 0.0000 | donor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125102793 | + | 6 | -0.9950 | -0.9950 | -0.9950 | 0.0000 | acceptor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125103000 | + | 7 | 0.9986 | 0.9986 | 0.9986 | 0.0000 | donor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125103081 | + | 7 | -0.9962 | -0.9962 | -0.9962 | 0.0000 | acceptor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125107121 | + | 8 | 0.8245 | 0.8245 | 0.8245 | 0.0000 | donor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125107268 | + | 8 | -0.8473 | -0.8473 | -0.8473 | 0.0000 | acceptor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125114477 | + | 9 | 0.9897 | 0.9897 | 0.9897 | 0.0000 | donor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125114557 | + | 9 | -0.9966 | -0.9966 | -0.9966 | 0.0000 | acceptor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125118641 | + | 10 | 0.9928 | 0.9928 | 0.9928 | 0.0000 | donor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125118765 | + | 10 | -0.9953 | -0.9953 | -0.9953 | 0.0000 | acceptor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125124705 | + | 11 | 0.5165 | 0.5165 | 0.5165 | 0.0000 | donor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125124769 | + | 11 | -0.5955 | -0.5955 | -0.5955 | 0.0000 | acceptor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125124902 | + | 12 | 0.6295 | 0.6295 | 0.6295 | 0.0000 | donor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125125024 | + | 12 | -0.6920 | -0.6920 | -0.6920 | 0.0000 | acceptor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125128161 | + | 13 | 0.9435 | 0.9435 | 0.9435 | 0.0000 | donor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125128274 | + | 13 | -0.7047 | -0.7047 | -0.7047 | 0.0000 | acceptor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125129335 | + | 14 | 0.6067 | 0.6067 | 0.6067 | 0.0000 | donor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125129460 | + | 14 | -0.5497 | -0.5497 | -0.5497 | 0.0000 | acceptor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125134003 | + | 15 | 0.9978 | 0.9978 | 0.9978 | 0.0000 | donor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125134072 | + | 15 | -0.9984 | -0.9984 | -0.9984 | 0.0000 | acceptor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125134794 | + | 16 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125134852 | + | 16 | -0.9978 | -0.9978 | -0.9978 | 0.0000 | acceptor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125136662 | + | 17 | 0.9915 | 0.9915 | 0.9915 | 0.0000 | donor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125136864 | + | 17 | -0.6961 | -0.6960 | -0.6961 | 0.0000 | acceptor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.hp1 | AACS | chr12 | 125060435 | 125148316 |
| 125142092 | + | 18 | 0.9529 | 0.9529 | 0.9529 | 0.0000 | donor | a0001c0001t0001g0078 | HG01109.hp1 | HG01109.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 |
|---|