| geneid | 8086 |
|---|---|
| ensemblid | ENSG00000094914.14 |
| hgncid | 13666 |
| symbol | AAAS |
| name | aladin WD repeat nucleoporin |
| refseq_nuc | NM_015665.6 |
| refseq_prot | NP_056480.1 |
| ensembl_nuc | ENST00000209873.9 |
| ensembl_prot | ENSP00000209873.4 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 53307460 |
| end | 53321610 |
| strand | - |
| ver | v1.2 |
| region | chr12:53307460-53321610 |
| region5000 | chr12:53302460-53326610 |
| regionname0 | AAAS_chr12_53307460_53321610 |
| regionname5000 | AAAS_chr12_53302460_53326610 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:53307533
|
C | T | 0.0182 | missense_variant | MODERATE | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0044a0002c0004t0001g0156a0002c0004t0002g0021others(1): Show | 6 | 330 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 16/16 | c.1597G>A | p.Gly533Arg | 1742/1815 | 1597/1641 | 533/546 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:53307615
|
A | G | 0.0182 | synonymous_variant | LOW | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0044a0002c0004t0001g0156a0002c0004t0002g0021others(1): Show | 6 | 330 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 16/16 | c.1515T>C | p.Pro505Pro | 1660/1815 | 1515/1641 | 505/546 | ||
|
chr12:53309237
|
G | A | 0.9333 | synonymous_variant | LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(170): Show | 308 | 330 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 9/16 | c.855C>T | p.Phe285Phe | 1000/1815 | 855/1641 | 285/546 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:53321535
|
A | G | 0.0091 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01167.hp1 HG01169.hp1 HG02723.hp2 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0021a0002c0004t0002g0049 | 3 | 330 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 1/16 | c.-70T>C |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:53308587
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(318): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(181): Show | 321 | 330 | 0.9727 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 11/15 | c.1088-59A>G | ||||||
|
chr12:53308879
|
G | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0044a0002c0004t0001g0156a0002c0004t0002g0021others(1): Show | 6 | 330 | 0.0182 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 10/15 | c.997-64C>T | ||||||
|
chr12:53311235
|
C | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0044a0002c0004t0001g0156a0002c0004t0002g0021others(1): Show | 6 | 330 | 0.0182 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | c.690-1514G>A | ||||||
|
chr12:53311286
|
G | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0044a0002c0004t0001g0156a0002c0004t0002g0021others(1): Show | 6 | 330 | 0.0182 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | c.690-1565C>T | ||||||
|
chr12:53311972
|
G | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0044a0002c0004t0001g0156a0002c0004t0002g0021others(1): Show | 6 | 330 | 0.0182 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | c.690-2251C>T | ||||||
|
chr12:53312785
|
G | GTATA | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0044a0002c0004t0001g0156a0002c0004t0002g0021others(1): Show | 6 | 330 | 0.0182 | 4 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | c.689+1509_689+1512dupTATA | ||||||
|
chr12:53312829
|
C | CAT | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02145.hp1 others(9): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0004 | a0001c0002t0001a0001c0005t0001a0002c0004t0001others(1): Show | a0001c0002t0001g0174a0001c0005t0001g0176a0001c0005t0001g0177others(7): Show | 12 | 330 | 0.0364 | 2 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | c.689+1467_689+1468dupAT | ||||||
|
chr12:53312864
|
T | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02027.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001a0002c0004t0002 | a0001c0001t0001g0030a0001c0001t0001g0057a0001c0001t0001g0068others(5): Show | 11 | 330 | 0.0333 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | c.689+1434A>T | ||||||
|
chr12:53313155
|
CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(290): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(158): Show | 293 | 330 | 0.8879 | -1 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | c.689+1142delA | ||||||
|
chr12:53313611
|
AT | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01884.hp2 others(25): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001a0002c0004t0002 | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0035others(14): Show | 28 | 330 | 0.0849 | -1 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | c.689+686delA | ||||||
|
chr12:53314227
|
G | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(310): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(173): Show | 313 | 330 | 0.9485 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | c.689+71C>G | ||||||
|
chr12:53315513
|
C | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp2 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0021a0002c0004t0002g0049 | 3 | 330 | 0.0091 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 3/15 | c.308-87G>A | ||||||
|
chr12:53315924
|
G | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(304): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(172): Show | 307 | 330 | 0.9303 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.252-142C>A | ||||||
|
chr12:53316543
|
C | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0044a0002c0004t0001g0156a0002c0004t0002g0021others(1): Show | 6 | 330 | 0.0182 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.252-761G>A | ||||||
|
chr12:53316692
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(313): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(176): Show | 316 | 330 | 0.9576 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.252-910A>G | ||||||
|
chr12:53316764
|
C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(126): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(66): Show | 129 | 330 | 0.3909 | 1 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.252-983dupT | ||||||
|
chr12:53317047
|
G | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0044a0002c0004t0001g0156a0002c0004t0002g0021others(1): Show | 6 | 330 | 0.0182 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.252-1265C>T | ||||||
|
chr12:53317146
|
C | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0044a0002c0004t0001g0156a0002c0004t0002g0021others(1): Show | 6 | 330 | 0.0182 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.252-1364G>A | ||||||
|
chr12:53317150
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(171): Show | 308 | 330 | 0.9333 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.252-1368A>G | ||||||
|
chr12:53317250
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(171): Show | 308 | 330 | 0.9333 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.252-1468A>G | ||||||
|
chr12:53317556
|
CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(292): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(161): Show | 295 | 330 | 0.8939 | -1 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.252-1775delT | ||||||
|
chr12:53318239
|
TGTGTGC | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0044a0002c0004t0001g0156a0002c0004t0002g0021others(1): Show | 6 | 330 | 0.0182 | -6 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.251+2320_251+2325delGCACAC | ||||||
|
chr12:53318249
|
T | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001a0002c0004t0002 | a0001c0001t0001g0136a0002c0004t0001g0044a0002c0004t0001g0156others(2): Show | 7 | 330 | 0.0212 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.251+2316A>G | ||||||
|
chr12:53319201
|
CT | C | intron_variant | MODIFIER | HG00140.hp1 HG01167.hp1 HG01169.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001a0002c0004t0002 | a0001c0001t0001g0167a0002c0004t0001g0044a0002c0004t0001g0156others(2): Show | 7 | 330 | 0.0212 | -1 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.251+1363delA | ||||||
|
chr12:53319395
|
G | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02258.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0002 | a0001c0001t0001g0022a0001c0001t0001g0057a0001c0001t0001g0058others(1): Show | 6 | 330 | 0.0182 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.251+1170C>T | ||||||
|
chr12:53319585
|
G | GCAGATTA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(171): Show | 308 | 330 | 0.9333 | 7 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.251+979_251+980insTAATCTG | ||||||
|
chr12:53319600
|
G | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0044a0002c0004t0001g0156a0002c0004t0002g0021others(1): Show | 6 | 330 | 0.0182 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.251+965C>A | ||||||
|
chr12:53319802
|
C | CA | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02145.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0175a0001c0002t0001g0174a0002c0004t0001g0044others(2): Show | 7 | 330 | 0.0212 | 1 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.251+762dupT | ||||||
|
chr12:53319826
|
G | A | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG01167.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0004 | a0001c0001t0001a0001c0008t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0145a0001c0001t0001g0146a0001c0001t0001g0147others(10): Show | 15 | 330 | 0.0455 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.251+739C>T | ||||||
|
chr12:53320011
|
T | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0044a0002c0004t0001g0156a0002c0004t0002g0021others(1): Show | 6 | 330 | 0.0182 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.251+554A>T | ||||||
|
chr12:53320506
|
T | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(310): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(176): Show | 313 | 330 | 0.9485 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.251+59A>C | ||||||
|
chr12:53320712
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(171): Show | 308 | 330 | 0.9333 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 1/15 | c.124-20T>C | ||||||
|
chr12:53320725
|
T | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(171): Show | 308 | 330 | 0.9333 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 1/15 | c.124-33A>C | ||||||
|
chr12:53321059
|
T | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0044a0002c0004t0001g0156a0002c0004t0002g0021others(1): Show | 6 | 330 | 0.0182 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 1/15 | c.123+284A>G | ||||||
|
chr12:53321209
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(171): Show | 308 | 330 | 0.9333 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 1/15 | c.123+134G>A |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAAS | 0/0 | a0002 | 546 | 6 | 4 | 2 | 0 | 0 | 0 | subcellular location copy fasta | chr12 | 53302460 | 53326610 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAAS | 0/0 | c0004 | 1641 | 6 | 4 | 2 | 0 | 0 | 0 | copy fasta | chr12 | 53302460 | 53326610 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAAS | 0/0 | t0002 | 175 | 3 | 1 | 2 | 0 | 0 | 0 | copy fasta | chr12 | 53302460 | 53326610 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AAAS | 0/0 | g0021 | 2 | 0 | 2 | 0 | 0 | 0 | chr12 | 53302460 | 53326610 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAAS | 0/0 | a0002c0004 | 6 | 4 | 2 | 0 | 0 | 0 | 1641 | copy fasta | chr12 | 53302460 | 53326610 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAAS | 0/0 | a0002c0004t0002 | 3 | 1 | 2 | 0 | 0 | 0 | 1815 | copy fasta | chr12 | 53302460 | 53326610 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AAAS | 0/0 | a0002c0004t0002g0021 | 2 | 0 | 2 | 0 | 0 | 0 | chr12 | 53302460 | 53326610 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 53321343 | - | 1 | -0.3624 | -0.3624 | -0.3624 | 0.0000 | acceptor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53320565 | - | 2 | -0.9840 | -0.9840 | -0.9840 | 0.0000 | acceptor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53320692 | - | 2 | 0.9613 | 0.9613 | 0.9613 | 0.0000 | donor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53315727 | - | 3 | -0.9968 | -0.9968 | -0.9968 | 0.0000 | acceptor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53315782 | - | 3 | 0.9916 | 0.9916 | 0.9916 | 0.0000 | donor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53315335 | - | 4 | -0.8021 | -0.8021 | -0.8021 | 0.0000 | acceptor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53315426 | - | 4 | 0.7567 | 0.7567 | 0.7567 | 0.0000 | donor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53315094 | - | 5 | -0.9862 | -0.9862 | -0.9862 | 0.0000 | acceptor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53315140 | - | 5 | 0.9678 | 0.9677 | 0.9678 | 0.0000 | donor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53314751 | - | 6 | -0.4594 | -0.4594 | -0.4594 | 0.0000 | acceptor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53314849 | - | 6 | 0.7146 | 0.7146 | 0.7146 | 0.0000 | donor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53314298 | - | 7 | -0.9766 | -0.9766 | -0.9766 | 0.0000 | acceptor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53314441 | - | 7 | 0.9764 | 0.9764 | 0.9764 | 0.0000 | donor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53309601 | - | 8 | -0.9871 | -0.9871 | -0.9871 | 0.0000 | acceptor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53309721 | - | 8 | 0.9922 | 0.9922 | 0.9922 | 0.0000 | donor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53309157 | - | 9 | -0.9967 | -0.9967 | -0.9967 | 0.0000 | acceptor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53309281 | - | 9 | 0.9969 | 0.9969 | 0.9969 | 0.0000 | donor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53308960 | - | 10 | -0.8208 | -0.8208 | -0.8208 | 0.0000 | acceptor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53309020 | - | 10 | 0.8972 | 0.8972 | 0.8972 | 0.0000 | donor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53308725 | - | 11 | -0.8461 | -0.8461 | -0.8461 | 0.0000 | acceptor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53308815 | - | 11 | 0.8223 | 0.8223 | 0.8223 | 0.0000 | donor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53308435 | - | 12 | -0.9835 | -0.9835 | -0.9835 | 0.0000 | acceptor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53308528 | - | 12 | 0.9986 | 0.9986 | 0.9986 | 0.0000 | donor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53308282 | - | 13 | -0.9311 | -0.9311 | -0.9311 | 0.0000 | acceptor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53308349 | - | 13 | 0.9541 | 0.9541 | 0.9541 | 0.0000 | donor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53308052 | - | 14 | -0.9016 | -0.9016 | -0.9016 | 0.0000 | acceptor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53308133 | - | 14 | 0.9561 | 0.9561 | 0.9561 | 0.0000 | donor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53307845 | - | 15 | -0.4029 | -0.4029 | -0.4029 | 0.0000 | acceptor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53307929 | - | 15 | 0.3721 | 0.3720 | 0.3721 | 0.0000 | donor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 53307713 | - | 16 | 0.3041 | 0.3041 | 0.3041 | 0.0000 | donor | a0002c0004t0002g0021 | HG01167.hp1 HG01169.hp1 |
HG01167.hp1 HG01169.hp1 |
AAAS | chr12 | 53302460 | 53326610 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 53308587:splice 53308587:variant goto | c.1088-59A>G | 1185545 | Benign | AAAS:8086 | SO:0001627 intron_variant |
MONDO:MONDO:0009279 MedGen:C0271742 OMIM:231550 Orphanet:869|MedGen:C3661900 |
- | 3 | 10 | 12 | 184 | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001a0001c0003t0001a0001c0005t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(179): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(316): Show |
MODIFIER | chr12 | T | C | TogoVar |
| 53309237:splice 53309237:variant goto | c.855C>Tp.Phe285Phe | 128252 | Benign | AAAS:8086 | SO:0001819 synonymous_variant |
MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009279 MedGen:C0271742 OMIM:231550 Orphanet:869 |
- | 3 | 8 | 10 | 173 | a0001a0002a0003 | a0001c0001a0001c0003a0001c0006a0001c0007a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001a0001c0006t0001a0001c0007t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(168): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(303): Show |
LOW | chr12 | G | A | TogoVar |
| 53314227:splice 53314227:variant goto | c.689+71C>G | 1185546 | Benign | AAAS:8086 | SO:0001627 intron_variant |
MONDO:MONDO:0009279 MedGen:C0271742 OMIM:231550 Orphanet:869|MedGen:C3661900 |
- | 3 | 8 | 10 | 176 | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0006a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001a0001c0003t0001a0001c0006t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(308): Show |
MODIFIER | chr12 | G | C | TogoVar |
| 53320506:splice 53320506:variant goto | c.251+59A>C | 1185548 | Benign | AAAS:8086 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0009279 MedGen:C0271742 OMIM:231550 Orphanet:869 |
- | 3 | 10 | 12 | 179 | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001a0001c0003t0001a0001c0005t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(174): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(308): Show |
MODIFIER | chr12 | T | G | TogoVar |
| 53320712:splice 53320712:variant goto | c.124-20T>C | 1183131 | Benign | AAAS:8086 | SO:0001627 intron_variant |
MONDO:MONDO:0009279 MedGen:C0271742 OMIM:231550 Orphanet:869|MedGen:C3661900 |
- | 3 | 9 | 11 | 174 | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0006a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001a0001c0003t0001a0001c0006t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(169): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(303): Show |
MODIFIER | chr12 | A | G | TogoVar |
| 53320725:splice 53320725:variant goto | c.124-33A>C | 1185549 | Benign | AAAS:8086 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0009279 MedGen:C0271742 OMIM:231550 Orphanet:869 |
- | 3 | 9 | 11 | 174 | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0006a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001a0001c0003t0001a0001c0006t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(169): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(303): Show |
MODIFIER | chr12 | T | G | TogoVar |
| 53321209:splice 53321209:variant goto | c.123+134G>A | 1296033 | Benign | AAAS:8086 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 3 | 9 | 11 | 174 | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0006a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001a0001c0003t0001a0001c0006t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(169): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(303): Show |
MODIFIER | chr12 | C | T | TogoVar |
| 53315924:splice 53315924:variant goto | c.252-142C>A | 1185547 | Benign | AAAS:8086 | SO:0001627 intron_variant |
MONDO:MONDO:0009279 MedGen:C0271742 OMIM:231550 Orphanet:869|MedGen:C3661900 |
- | 3 | 9 | 11 | 175 | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0006a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001a0001c0003t0001a0001c0006t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(170): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(302): Show |
MODIFIER | chr12 | G | T | TogoVar |
| 53307533:splice 53307533:variant goto | c.1597G>Ap.Gly533Arg | 309718 | Benign/Likely_benign | AAAS:8086 | SO:0001583 missense_variant |
MONDO:MONDO:0009279 MedGen:C0271742 OMIM:231550 Orphanet:869|MedGen:C3661900 |
- | 1 | 1 | 2 | 4 | a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0044a0002c0004t0001g0156a0002c0004t0002g0021a0002c0004t0002g0049 | HG01167.hp1 HG01169.hp1 HG02723.hp1 HG02723.hp2 HG03209.hp2 others(1): Show |
MODERATE | chr12 | C | T | TogoVar |
| 53307615:splice 53307615:variant goto | c.1515T>Cp.Pro505Pro | 309722 | Benign/Likely_benign | AAAS:8086 | SO:0001819 synonymous_variant |
MONDO:MONDO:0009279 MedGen:C0271742 OMIM:231550 Orphanet:869|MedGen:C3661900 |
- | 1 | 1 | 2 | 4 | a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0044a0002c0004t0001g0156a0002c0004t0002g0021a0002c0004t0002g0049 | HG01167.hp1 HG01169.hp1 HG02723.hp1 HG02723.hp2 HG03209.hp2 others(1): Show |
LOW | chr12 | A | G | TogoVar |
| 53321535:splice 53321535:variant goto | c.-70T>C | 883693 | Likely_benign | AAAS:8086 LOC130007973:130007973 |
SO:0001623 5_prime_UTR_variant |
MONDO:MONDO:0009279 MedGen:C0271742 OMIM:231550 Orphanet:869 |
- | 1 | 1 | 1 | 2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0021a0002c0004t0002g0049 | HG01167.hp1 HG01169.hp1 HG02723.hp2 |
LOW | chr12 | A | G | TogoVar |
| 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 |
|---|