| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:125076605
|
A | G | 0.2363 | missense_variant | MODERATE | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(83): Show |
a0002a0008a0009others(1): Show | a0002c0002a0002c0005a0002c0006others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0006others(81): Show | 86 | 364 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/18 | c.352A>G | p.Ile118Val | 502/3256 | 352/2019 | 118/672 | ||
|
chr12:125143315
|
C | T | 0.0110 | splice_region_variant | LOW | HG03491.hp2 HG03492.hp2 HG03704.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0112a0002c0002t0007g0113a0002c0002t0007g0146others(1): Show | 4 | 364 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 18/18 | c.*1086C>T |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:125142175
|
G | A | 0.0082 | synonymous_variant | LOW | HG01175.hp2 HG03139.hp1 HG03486.hp2 |
a0001a0002 | a0001c0015a0002c0010a0002c0025 | a0001c0015t0001a0002c0010t0001a0002c0025t0001 | a0001c0015t0001g0070a0002c0010t0001g0018a0002c0025t0001g0255 | 3 | 364 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 18/18 | c.1965G>A | p.Ser655Ser | 2115/3256 | 1965/2019 | 655/672 |
| 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 | 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 | ||||||
|
chr12:125069974
|
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 | ||||||
|
chr12:125070693
|
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 | ||||||
|
chr12:125070923
|
G | A | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(73): Show |
a0002a0008a0009others(1): Show | a0002c0002a0002c0005a0002c0006others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(13): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0102others(71): Show | 76 | 364 | 0.2088 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-2953G>A | ||||||
|
chr12:125071732
|
G | T | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(53): Show |
a0002a0008a0010 | a0002c0002a0002c0006a0002c0025others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0001a0002c0002t0001g0102a0002c0002t0001g0111others(52): Show | 56 | 364 | 0.1539 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-2144G>T | ||||||
|
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 | ||||||
|
chr12:125074557
|
G | A | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(78): Show |
a0002a0008a0009others(1): Show | a0002c0002a0002c0005a0002c0006others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(13): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0006others(76): Show | 81 | 364 | 0.2225 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | c.237+578G>A | ||||||
|
chr12:125074660
|
G | GT | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG01258.hp2 others(44): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(43): Show | 47 | 364 | 0.1291 | 1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | c.237+702dupT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125076203
|
T | A | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(82): Show |
a0002a0008a0009others(1): Show | a0002c0002a0002c0005a0002c0006others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0006others(80): Show | 85 | 364 | 0.2335 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | c.238-288T>A | ||||||
|
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 | |||||
|
chr12:125078871
|
C | T | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(82): Show |
a0002a0008a0009others(1): Show | a0002c0002a0002c0005a0002c0006others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0006others(80): Show | 85 | 364 | 0.2335 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+2260C>T | ||||||
|
chr12:125079108
|
C | T | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(82): Show |
a0002a0008a0009others(1): Show | a0002c0002a0002c0005a0002c0006others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0006others(80): Show | 85 | 364 | 0.2335 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+2497C>T | ||||||
|
chr12:125079609
|
G | A | intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0255 | 1 | 364 | 0.0028 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+2998G>A | ||||||
|
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 | ||||||
|
chr12:125080470
|
G | GTC | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(80): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0002a0002c0005others(9): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(14): Show | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013others(78): Show | 83 | 364 | 0.2280 | 2 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+3877_358+3878dupCT | INFO_REALIGN_3_PRIME | |||||
|
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 | |||||
|
chr12:125080840
|
C | G | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(82): Show |
a0002a0008a0009others(1): Show | a0002c0002a0002c0005a0002c0006others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0006others(80): Show | 85 | 364 | 0.2335 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+4229C>G | ||||||
|
chr12:125080865
|
G | T | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(82): Show |
a0002a0008a0009others(1): Show | a0002c0002a0002c0005a0002c0006others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0006others(80): Show | 85 | 364 | 0.2335 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+4254G>T | ||||||
|
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 | ||||||
|
chr12:125081845
|
G | A | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(82): Show |
a0002a0008a0009others(1): Show | a0002c0002a0002c0005a0002c0006others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0006others(80): Show | 85 | 364 | 0.2335 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-4485G>A | ||||||
|
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 | |||||
|
chr12:125082208
|
G | C | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(82): Show |
a0002a0008a0009others(1): Show | a0002c0002a0002c0005a0002c0006others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0006others(80): Show | 85 | 364 | 0.2335 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-4122G>C | ||||||
|
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 | ||||||
|
chr12:125082832
|
G | GAC | intron_variant | MODIFIER | HG01175.hp2 HG02257.hp2 HG02896.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0025 | a0001c0001t0001a0001c0001t0005a0002c0025t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0005g0103others(2): Show | 5 | 364 | 0.0137 | 2 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-3482_359-3481dupCA | INFO_REALIGN_3_PRIME | |||||
|
chr12:125083023
|
A | G | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(83): Show |
a0001a0002a0008others(2): Show | a0001c0001a0002c0002a0002c0005others(10): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(15): Show | a0001c0001t0001g0337a0002c0002t0001g0001a0002c0002t0001g0004others(81): Show | 86 | 364 | 0.2363 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-3307A>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 | ||||||
|
chr12:125083243
|
G | C | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(84): Show |
a0001a0002a0008others(2): Show | a0001c0001a0002c0002a0002c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(16): Show | a0001c0001t0001g0337a0001c0001t0002g0321a0002c0002t0001g0001others(82): Show | 87 | 364 | 0.2390 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-3087G>C | ||||||
|
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 | ||||||
|
chr12:125084578
|
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 | |||||
|
chr12:125084771
|
C | T | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG02145.hp1 others(10): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0007others(2): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0005others(3): Show | a0001c0003t0001g0354a0001c0003t0001g0355a0002c0002t0001g0006others(10): Show | 13 | 364 | 0.0357 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-1559C>T | ||||||
|
chr12:125085041
|
A | G | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG01891.hp1 others(7): Show |
a0002 | a0002c0005a0002c0011a0002c0025 | a0002c0005t0001a0002c0011t0001a0002c0025t0001 | a0002c0005t0001g0015a0002c0005t0001g0019a0002c0005t0001g0020others(7): Show | 10 | 364 | 0.0275 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-1289A>G | ||||||
|
chr12:125085071
|
C | T | intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0255 | 1 | 364 | 0.0028 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-1259C>T | ||||||
|
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 | ||||||
|
chr12:125087023
|
C | T | intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0255 | 1 | 364 | 0.0028 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.472+580C>T | ||||||
|
chr12:125088317
|
C | T | intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0255 | 1 | 364 | 0.0028 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.472+1874C>T | ||||||
|
chr12:125088991
|
C | T | intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0255 | 1 | 364 | 0.0028 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-2435C>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 | ||||||
|
chr12:125091027
|
C | G | intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0255 | 1 | 364 | 0.0028 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-399C>G | ||||||
|
chr12:125091969
|
G | A | intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0255 | 1 | 364 | 0.0028 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.570+446G>A | ||||||
|
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 | ||||||
|
chr12:125097203
|
A | G | intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0255 | 1 | 364 | 0.0028 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-5476A>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 | ||||||
|
chr12:125100893
|
C | T | intron_variant | MODIFIER | HG01175.hp2 HG01515.hp1 HG01517.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0025 | a0001c0001t0001a0002c0002t0001a0002c0025t0001 | a0001c0001t0001g0287a0002c0002t0001g0011a0002c0002t0001g0273others(2): Show | 5 | 364 | 0.0137 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-1786C>T | ||||||
|
chr12:125101099
|
C | T | intron_variant | MODIFIER | HG01175.hp2 HG02896.hp2 |
a0001a0002 | a0001c0001a0002c0025 | a0001c0001t0001a0002c0025t0001 | a0001c0001t0001g0287a0002c0025t0001g0255 | 2 | 364 | 0.0055 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-1580C>T | ||||||
|
chr12:125101762
|
C | CTT | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00738.hp2 others(31): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0062a0001c0001t0001g0077a0001c0001t0001g0196others(31): Show | 34 | 364 | 0.0934 | 2 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-896_571-895dupTT | 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 | ||||||
|
chr12:125102080
|
C | A | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00733.hp2 others(40): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0035others(39): Show | 43 | 364 | 0.1181 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-599C>A | ||||||
|
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 | ||||||
|
chr12:125102345
|
C | T | intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0255 | 1 | 364 | 0.0028 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-334C>T | ||||||
|
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 | ||||||
|
chr12:125103230
|
A | G | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01175.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0004others(5): Show | a0001c0001t0001g0287a0001c0004t0001g0212a0001c0004t0001g0213others(19): Show | 22 | 364 | 0.0604 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.767+149A>G | ||||||
|
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 | |||||
|
chr12:125103651
|
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 | ||||||
|
chr12:125103784
|
C | T | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01175.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0004others(5): Show | a0001c0001t0001g0287a0001c0004t0001g0212a0001c0004t0001g0213others(19): Show | 22 | 364 | 0.0604 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.767+703C>T | ||||||
|
chr12:125103814
|
C | T | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01175.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0004others(5): Show | a0001c0001t0001g0287a0001c0004t0001g0212a0001c0004t0001g0213others(19): Show | 22 | 364 | 0.0604 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.767+733C>T | ||||||
|
chr12:125103987
|
CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01175.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0004others(5): Show | a0001c0001t0001g0287a0001c0004t0001g0212a0001c0004t0001g0213others(19): Show | 22 | 364 | 0.0604 | -19 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.767+920_767+938delAAAAAAAAAAAAAAAAAAA | INFO_REALIGN_3_PRIME | |||||
|
chr12:125104079
|
C | T | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01175.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0004others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(30): Show | 34 | 364 | 0.0934 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.767+998C>T | ||||||
|
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 | ||||||
|
chr12:125104860
|
G | A | intron_variant | MODIFIER | HG01175.hp2 HG02896.hp2 |
a0001a0002 | a0001c0001a0002c0025 | a0001c0001t0001a0002c0025t0001 | a0001c0001t0001g0287a0002c0025t0001g0255 | 2 | 364 | 0.0055 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.767+1779G>A | ||||||
|
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 | ||||||
|
chr12:125105948
|
T | C | intron_variant | MODIFIER | HG01175.hp2 HG02896.hp2 |
a0001a0002 | a0001c0001a0002c0025 | a0001c0001t0001a0002c0025t0001 | a0001c0001t0001g0287a0002c0025t0001g0255 | 2 | 364 | 0.0055 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.768-1173T>C | ||||||
|
chr12:125106704
|
C | T | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01175.hp2 others(31): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0003t0004a0001c0004t0001others(8): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0035others(31): Show | 34 | 364 | 0.0934 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.768-417C>T | ||||||
|
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 | ||||||
|
chr12:125107390
|
G | A | intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0255 | 1 | 364 | 0.0028 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | c.915+122G>A | ||||||
|
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 | ||||||
|
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 | ||||||
|
chr12:125108812
|
C | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(137): Show |