| geneid | 344752 |
|---|---|
| ensemblid | ENSG00000197953.6 |
| hgncid | 24427 |
| symbol | AADACL2 |
| name | arylacetamide deacetylase like 2 |
| refseq_nuc | NM_207365.4 |
| refseq_prot | NP_997248.2 |
| ensembl_nuc | ENST00000356517.4 |
| ensembl_prot | ENSP00000348911.3 |
| mane_status | MANE Select |
| chr | chr3 |
| start | 151733927 |
| end | 151761339 |
| strand | + |
| ver | v1.2 |
| region | chr3:151733927-151761339 |
| region5000 | chr3:151728927-151766339 |
| regionname0 | AADACL2_chr3_151733927_151761339 |
| regionname5000 | AADACL2_chr3_151728927_151766339 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:151758355
|
ATG | A | 0.0491 | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | -2 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | c.*765_*766delGT | 765 | INFO_REALIGN_3_PRIME | ||||
|
chr3:151758516
|
A | ATATTTTC others(10): Show |
0.4977 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(210): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018others(99): Show | 213 | 428 | 17 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | c.*928_*929insCAGTCAAATTTTATTTT | 929 | INFO_REALIGN_3_PRIME | ||||
|
chr3:151758825
|
A | C | 0.0491 | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | c.*1231A>C | 1231 | |||||
|
chr3:151758973
|
T | G | 0.0491 | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | c.*1379T>G | 1379 | |||||
|
chr3:151759832
|
A | G | 0.0491 | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | c.*2238A>G | 2238 | |||||
|
chr3:151759907
|
G | A | 0.0491 | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | c.*2313G>A | 2313 | |||||
|
chr3:151760033
|
G | A | 0.0491 | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | c.*2439G>A | 2439 | |||||
|
chr3:151760083
|
T | C | 0.0491 | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | c.*2489T>C | 2489 | |||||
|
chr3:151760981
|
T | C | 0.6402 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(271): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(50): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018others(146): Show | 274 | 428 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | c.*3387T>C | 3387 | |||||
|
chr3:151761074
|
G | A | 0.0491 | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | c.*3480G>A | 3480 | |||||
|
chr3:151761109
|
T | A | 0.2804 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(117): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018others(52): Show | 120 | 428 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | c.*3515T>A | 3515 | |||||
|
chr3:151761122
|
G | T | 0.0491 | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | c.*3528G>T | 3528 | |||||
|
chr3:151761131
|
TTATATAT others(11): Show |
T | 0.0491 | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | -18 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | c.*3545_*3562delGGTGAGATATATATATAT | 3545 | INFO_REALIGN_3_PRIME | ||||
|
chr3:151761164
|
G | T | 0.0491 | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | c.*3570G>T | 3570 | |||||
|
chr3:151761173
|
TTA | T | 0.0491 | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | -2 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | c.*3587_*3588delAT | 3587 | INFO_REALIGN_3_PRIME | ||||
|
chr3:151761204
|
GATATATA others(9): Show |
G | 0.2500 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(104): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0029others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018others(43): Show | 107 | 428 | -16 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | c.*3633_*3648delATATATATATATATAT | 3633 | INFO_REALIGN_3_PRIME |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:151745705
|
A | G | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00642.hp2 others(68): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0137a0001c0001t0001g0138a0001c0001t0002g0031others(45): Show | 71 | 428 | 0.1659 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.603+25A>G | ||||||
|
chr3:151747618
|
TTG | T | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(2): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(11): Show | 19 | 428 | 0.0444 | -2 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.603+1958_603+1959delGT | INFO_REALIGN_3_PRIME | |||||
|
chr3:151747765
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(275): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018others(149): Show | 278 | 428 | 0.6495 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.603+2085A>G | ||||||
|
chr3:151747793
|
T | C | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0.0491 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.603+2113T>C | ||||||
|
chr3:151748095
|
C | CGTGCAGA others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0.0491 | 8 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.603+2417_603+2424dupTGCAGATG | INFO_REALIGN_3_PRIME | |||||
|
chr3:151748364
|
GAA | G | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0.0491 | -2 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.603+2687_603+2688delAA | INFO_REALIGN_3_PRIME | |||||
|
chr3:151748710
|
C | G | intron_variant | MODIFIER | HG01069.hp2 HG02886.hp1 HG02886.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0006 | a0001c0001t0006g0021a0001c0001t0006g0095a0002c0002t0006g0085 | 5 | 428 | 0.0117 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.603+3030C>G | ||||||
|
chr3:151748799
|
A | T | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0.0491 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.603+3119A>T | ||||||
|
chr3:151749029
|
CT | C | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0.0491 | -1 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.603+3353delT | INFO_REALIGN_3_PRIME | |||||
|
chr3:151749275
|
T | TTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(222): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(31): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018others(108): Show | 225 | 428 | 0.5257 | 2 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.603+3596_603+3597insAT | INFO_REALIGN_3_PRIME | |||||
|
chr3:151749454
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(210): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018others(99): Show | 213 | 428 | 0.4977 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.603+3774G>A | ||||||
|
chr3:151749495
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(390): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(79): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018others(216): Show | 393 | 428 | 0.9182 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.603+3815G>T | ||||||
|
chr3:151749563
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(210): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018others(99): Show | 213 | 428 | 0.4977 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.603+3883C>A | ||||||
|
chr3:151749568
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(210): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018others(99): Show | 213 | 428 | 0.4977 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.603+3888T>C | ||||||
|
chr3:151749975
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(117): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018others(52): Show | 120 | 428 | 0.2804 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.603+4295T>G | ||||||
|
chr3:151750442
|
C | T | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0.0491 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.603+4762C>T | ||||||
|
chr3:151751090
|
G | A | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0.0491 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.603+5410G>A | ||||||
|
chr3:151751662
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(110): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(15): Show | a0001c0001t0003g0002a0001c0001t0003g0008a0001c0001t0003g0009others(59): Show | 113 | 428 | 0.2640 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.604-5330G>A | ||||||
|
chr3:151751772
|
A | T | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0.0491 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.604-5220A>T | ||||||
|
chr3:151751987
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(110): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(15): Show | a0001c0001t0003g0002a0001c0001t0003g0008a0001c0001t0003g0009others(59): Show | 113 | 428 | 0.2640 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.604-5005C>T | ||||||
|
chr3:151752129
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(273): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018others(147): Show | 276 | 428 | 0.6449 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.604-4863A>C | ||||||
|
chr3:151752437
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(110): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(15): Show | a0001c0001t0003g0002a0001c0001t0003g0008a0001c0001t0003g0009others(59): Show | 113 | 428 | 0.2640 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.604-4555C>G | ||||||
|
chr3:151753174
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(209): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018others(98): Show | 212 | 428 | 0.4953 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.604-3818T>A | ||||||
|
chr3:151753349
|
T | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(111): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(16): Show | a0001c0001t0003g0002a0001c0001t0003g0008a0001c0001t0003g0009others(60): Show | 114 | 428 | 0.2664 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.604-3643T>G | ||||||
|
chr3:151753550
|
T | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(111): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(16): Show | a0001c0001t0003g0002a0001c0001t0003g0008a0001c0001t0003g0009others(60): Show | 114 | 428 | 0.2664 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.604-3442T>A | ||||||
|
chr3:151753878
|
G | A | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0.0491 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.604-3114G>A | ||||||
|
chr3:151754031
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(229): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018others(115): Show | 232 | 428 | 0.5421 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.604-2961T>C | ||||||
|
chr3:151754599
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(111): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(16): Show | a0001c0001t0003g0002a0001c0001t0003g0008a0001c0001t0003g0009others(60): Show | 114 | 428 | 0.2664 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.604-2393G>C | ||||||
|
chr3:151754876
|
A | T | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0.0491 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.604-2116A>T | ||||||
|
chr3:151754904
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(111): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(16): Show | a0001c0001t0003g0002a0001c0001t0003g0008a0001c0001t0003g0009others(60): Show | 114 | 428 | 0.2664 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.604-2088T>C | ||||||
|
chr3:151755558
|
G | C | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0.0491 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.604-1434G>C | ||||||
|
chr3:151756204
|
A | G | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0.0491 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.604-788A>G | ||||||
|
chr3:151756736
|
C | T | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0.0491 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.604-256C>T | ||||||
|
chr3:151756878
|
C | T | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0.0491 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.604-114C>T |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL2 | 1/0 | a0002 | 401 | 141 | 17 | 26 | 79 | 6 | 12 | subcellular location copy fasta | chr3 | 151728927 | 151766339 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL2 | 1/0 | c0002 | 1206 | 141 | 17 | 26 | 79 | 6 | 12 | copy fasta | chr3 | 151728927 | 151766339 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL2 | 0/0 | t0006 | 3834 | 17 | 13 | 4 | 0 | 0 | 0 | copy fasta | chr3 | 151728927 | 151766339 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL2 | 0/0 | g0085 | 1 | 1 | 0 | 0 | 0 | 0 | chr3 | 151728927 | 151766339 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL2 | 1/0 | a0002c0002 | 141 | 17 | 26 | 79 | 6 | 12 | 1206 | copy fasta | chr3 | 151728927 | 151766339 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL2 | 0/0 | a0002c0002t0006 | 1 | 1 | 0 | 0 | 0 | 0 | 5039 | copy fasta | chr3 | 151728927 | 151766339 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL2 | 0/0 | a0002c0002t0006g0085 | 1 | 1 | 0 | 0 | 0 | 0 | chr3 | 151728927 | 151766339 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 151734173 | + | 1 | -0.8135 | -0.8135 | -0.8135 | 0.0000 | acceptor | a0002c0002t0006g0085 | HG02886.hp2 | HG02886.hp2 | AADACL2 | chr3 | 151728927 | 151766339 |
| 151740646 | + | 2 | 0.9861 | 0.9861 | 0.9861 | 0.0000 | donor | a0002c0002t0006g0085 | HG02886.hp2 | HG02886.hp2 | AADACL2 | chr3 | 151728927 | 151766339 |
| 151740868 | + | 2 | -0.7909 | -0.7909 | -0.7909 | 0.0000 | acceptor | a0002c0002t0006g0085 | HG02886.hp2 | HG02886.hp2 | AADACL2 | chr3 | 151728927 | 151766339 |
| 151744093 | + | 3 | 0.4924 | 0.4924 | 0.4924 | 0.0000 | donor | a0002c0002t0006g0085 | HG02886.hp2 | HG02886.hp2 | AADACL2 | chr3 | 151728927 | 151766339 |
| 151744162 | + | 3 | -0.6170 | -0.6170 | -0.6170 | 0.0000 | acceptor | a0002c0002t0006g0085 | HG02886.hp2 | HG02886.hp2 | AADACL2 | chr3 | 151728927 | 151766339 |
| 151745509 | + | 4 | 0.9457 | 0.9457 | 0.9457 | 0.0000 | donor | a0002c0002t0006g0085 | HG02886.hp2 | HG02886.hp2 | AADACL2 | chr3 | 151728927 | 151766339 |
| 151745680 | + | 4 | -0.9602 | -0.9602 | -0.9602 | 0.0000 | acceptor | a0002c0002t0006g0085 | HG02886.hp2 | HG02886.hp2 | AADACL2 | chr3 | 151728927 | 151766339 |
| 151756992 | + | 5 | 0.2992 | 0.2992 | 0.2992 | 0.0000 | donor | a0002c0002t0006g0085 | HG02886.hp2 | HG02886.hp2 | AADACL2 | chr3 | 151728927 | 151766339 |
| 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 |
|---|