| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:125142507
|
C | T | 0.2170 | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(76): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0017others(2): Show | a0001c0001t0002a0001c0001t0010a0001c0008t0002others(4): Show | a0001c0001t0002g0002a0001c0001t0002g0037a0001c0001t0002g0040others(75): Show | 79 | 364 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 18/18 | c.*278C>T | 278 |
| 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 | AT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(172): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0030a0001c0001t0001g0031others(169): Show | 175 | 364 | 0.4808 | 1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.133+751dupT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125067012
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(111): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0029others(109): Show | 114 | 364 | 0.3132 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.133+1295A>G | ||||||
|
chr12:125067542
|
AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(194): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0029others(190): Show | 197 | 364 | 0.5412 | -1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.133+1839delT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125068128
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(203): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(199): Show | 206 | 364 | 0.5659 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.133+2411C>G | ||||||
|
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 | |||||
|
chr12:125068900
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(140): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0029others(137): Show | 143 | 364 | 0.3929 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.133+3183C>T | ||||||
|
chr12:125070752
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(113): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0100others(112): Show | 116 | 364 | 0.3187 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-3124G>A | ||||||
|
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 | |||||
|
chr12:125072950
|
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 | ||||||
|
chr12:125074975
|
G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(128): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0029others(126): Show | 131 | 364 | 0.3599 | 1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | c.237+1014dupT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125075534
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(112): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0097others(111): Show | 115 | 364 | 0.3159 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | c.238-957C>T | ||||||
|
chr12:125076174
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(112): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0097others(111): Show | 115 | 364 | 0.3159 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | c.238-317A>T | ||||||
|
chr12:125077074
|
AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(111): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0097others(110): Show | 114 | 364 | 0.3132 | -1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+484delT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125077621
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(112): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0097others(111): Show | 115 | 364 | 0.3159 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+1010C>G | ||||||
|
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
|
CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(112): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(111): Show | 115 | 364 | 0.3159 | -1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+2234delA | 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 | ||||||
|
chr12:125080641
|
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 | |||||
|
chr12:125081141
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(112): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0097others(111): Show | 115 | 364 | 0.3159 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+4530C>T | ||||||
|
chr12:125081915
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(116): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0029others(114): Show | 119 | 364 | 0.3269 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-4415G>T | ||||||
|
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 | |||||
|
chr12:125082357
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(60): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0029a0001c0001t0001g0100a0001c0001t0001g0169others(59): Show | 63 | 364 | 0.1731 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-3973T>A | ||||||
|
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 | ||||||
|
chr12:125082637
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(59): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0029a0001c0001t0001g0100a0001c0001t0001g0169others(58): Show | 62 | 364 | 0.1703 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-3693A>G | ||||||
|
chr12:125083207
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(199): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0097others(196): Show | 202 | 364 | 0.5550 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-3123C>T | ||||||
|
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 | ||||||
|
chr12:125084099
|
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 | ||||||
|
chr12:125084442
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(115): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0097others(114): Show | 118 | 364 | 0.3242 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-1888T>G | ||||||
|
chr12:125085167
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(91): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0029a0001c0001t0001g0169a0001c0001t0001g0191others(90): Show | 94 | 364 | 0.2582 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-1163T>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 | ||||||
|
chr12:125087333
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(62): Show |
a0001a0002a0003 | a0001c0001a0001c0017a0001c0020others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0161others(61): Show | 65 | 364 | 0.1786 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.472+890C>T | ||||||
|
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 | |||||
|
chr12:125088825
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(62): Show |
a0001a0002a0003 | a0001c0001a0001c0017a0001c0020others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0161others(61): Show | 65 | 364 | 0.1786 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.472+2382C>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 | ||||||
|
chr12:125093188
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(77): Show |
a0001a0002a0003 | a0001c0001a0001c0017a0001c0020others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0029a0001c0001t0001g0039others(75): Show | 80 | 364 | 0.2198 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.570+1665C>T | ||||||
|
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(3): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp2 others(14): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0002g0002a0001c0001t0002g0166others(11): Show | 17 | 364 | 0.0467 | -10 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.570+3492_570+3501delGTGTGTGTGT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125095652
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(111): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0029a0001c0001t0001g0039others(108): Show | 114 | 364 | 0.3132 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.570+4129C>T | ||||||
|
chr12:125097433
|
T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(73): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0001c0017others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0161others(72): Show | 76 | 364 | 0.2088 | 1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-5229dupA | INFO_REALIGN_3_PRIME | |||||
|
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 | ||||||
|
chr12:125098713
|
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 | ||||||
|
chr12:125101762
|
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 | |||||
|
chr12:125102059
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(184): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(181): Show | 187 | 364 | 0.5137 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-620T>C | ||||||
|
chr12:125102068
|
T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(124): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(122): Show | 127 | 364 | 0.3489 | 1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-600dupA | INFO_REALIGN_3_PRIME | |||||
|
chr12:125102091
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(184): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(181): Show | 187 | 364 | 0.5137 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-588C>A | ||||||
|
chr12:125102479
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(158): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(156): Show | 161 | 364 | 0.4423 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-200T>C | ||||||
|
chr12:125103160
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(126): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0035others(124): Show | 129 | 364 | 0.3544 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.767+79T>C | ||||||
|
chr12:125103293
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(185): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(182): Show | 188 | 364 | 0.5165 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.767+212A>G | ||||||
|
chr12:125103457
|
G | GCA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(181): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(178): Show | 184 | 364 | 0.5055 | 2 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.767+381_767+382dupCA | INFO_REALIGN_3_PRIME | |||||
|
chr12:125103537
|
GTGTA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(84): Show |
a0001a0002a0003 | a0001c0001a0001c0017a0001c0020others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0039a0001c0001t0001g0161a0001c0001t0001g0169others(83): Show | 87 | 364 | 0.2390 | -4 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.767+463_767+466delTATG | INFO_REALIGN_3_PRIME | |||||
|
chr12:125103651
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(181): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(178): Show | 184 | 364 | 0.5055 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.767+570G>A | ||||||
|
chr12:125103987
|
C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(45): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0020others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0031a0001c0001t0001g0038a0001c0001t0001g0049others(43): Show | 48 | 364 | 0.1319 | 3 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.767+936_767+938dupAAA | INFO_REALIGN_3_PRIME | |||||
|
chr12:125104032
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(131): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0035others(129): Show | 134 | 364 | 0.3681 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.767+951T>G | ||||||
|
chr12:125104174
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(188): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(185): Show | 191 | 364 | 0.5247 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.767+1093A>G | ||||||
|
chr12:125104445
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(184): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(181): Show | 187 | 364 | 0.5137 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.767+1364A>G | ||||||
|
chr12:125105716
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(84): Show |
a0001a0002a0003 | a0001c0001a0001c0017a0001c0020others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0039a0001c0001t0001g0161a0001c0001t0001g0169others(83): Show | 87 | 364 | 0.2390 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.768-1405C>T | ||||||
|
chr12:125105871
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(195): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(192): Show | 198 | 364 | 0.5440 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.768-1250T>C | ||||||
|
chr12:125107298
|
C | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(130): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(18): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(127): Show | 133 | 364 | 0.3654 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | c.915+30C>T | ||||||
|
chr12:125107627
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(184): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(181): Show | 187 | 364 | 0.5137 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | c.915+359T>C | ||||||
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chr12:125108464
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C | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(95): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0001c0017others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(93): Show | 98 | 364 | 0.2692 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | c.915+1196C>T | ||||||
|
chr12:125108507
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A | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(95): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0001c0017others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(93): Show | 98 | 364 | 0.2692 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | c.915+1239A>G | ||||||
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chr12:125108772
|
G | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(150): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(22): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(147): Show | 153 | 364 | 0.4203 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | c.915+1504G>A | ||||||
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chr12:125108812
|
C | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(137): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(134): Show | 140 | 364 | 0.3846 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | c.915+1544C>T | ||||||
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chr12:125108863
|
CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(154): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(23): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(152): Show | 157 | 364 | 0.4313 | -1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | c.915+1612delT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125109610
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C | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(137): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(134): Show |