| geneid | 22848 |
|---|---|
| ensemblid | ENSG00000115977.21 |
| hgncid | 19679 |
| symbol | AAK1 |
| name | AP2 associated kinase 1 |
| refseq_nuc | NM_014911.5 |
| refseq_prot | NP_055726.4 |
| ensembl_nuc | ENST00000409085.9 |
| ensembl_prot | ENSP00000386456.3 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 69457997 |
| end | 69643739 |
| strand | - |
| ver | v1.2 |
| region | chr2:69457997-69643739 |
| region5000 | chr2:69452997-69648739 |
| regionname0 | AAK1_chr2_69457997_69643739 |
| regionname5000 | AAK1_chr2_69452997_69648739 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:69514722
|
T | G | 0.9966 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(22): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(167): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(294): Show | 297 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/22 | c.1525A>C | p.Lys509Gln | 1924/21157 | 1525/2886 | 509/961 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:69482787
|
A | G | 0.1175 | synonymous_variant | LOW | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0006a0001c0008others(5): Show | a0001c0004t0002a0001c0004t0010a0001c0004t0014others(22): Show | a0001c0004t0002g0137a0001c0004t0010g0127a0001c0004t0010g0148others(32): Show | 35 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 18/22 | c.2391T>C | p.Ser797Ser | 2790/21157 | 2391/2886 | 797/961 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:69458196
|
G | A | 0.0168 | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02818.hp1 HG03471.hp2 others(2): Show |
a0001a0004 | a0001c0006a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(1): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(2): Show | 5 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*17673C>T | 17673 | |||||
|
chr2:69459154
|
A | G | 0.6980 | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(205): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(121): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(205): Show | 208 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*16715T>C | 16715 | |||||
|
chr2:69460113
|
A | G | 0.0168 | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02818.hp1 HG03471.hp2 others(2): Show |
a0001a0004 | a0001c0006a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(1): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(2): Show | 5 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*15756T>C | 15756 | |||||
|
chr2:69460594
|
A | G | 0.7047 | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(207): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(123): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(207): Show | 210 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*15275T>C | 15275 | |||||
|
chr2:69460599
|
C | G | 0.7013 | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(206): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(122): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(206): Show | 209 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*15270G>C | 15270 | |||||
|
chr2:69461109
|
T | C | 0.0168 | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02818.hp1 HG03471.hp2 others(2): Show |
a0001a0004 | a0001c0006a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(1): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(2): Show | 5 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*14760A>G | 14760 | |||||
|
chr2:69461374
|
T | C | 0.1711 | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01167.hp1 others(48): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0007others(4): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0020others(26): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(48): Show | 51 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*14495A>G | 14495 | |||||
|
chr2:69461499
|
C | CA | 0.1577 | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG01074.hp2 others(44): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0095a0001c0001t0099a0001c0001t0104others(33): Show | a0001c0001t0095g0136a0001c0001t0099g0161a0001c0001t0104g0292others(44): Show | 47 | 298 | 1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*14369dupT | 14369 | |||||
|
chr2:69461595
|
ATT | A | 0.0336 | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG02559.hp2 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0005others(1): Show | a0001c0001t0073a0001c0006t0028a0001c0006t0041others(4): Show | a0001c0001t0073g0052a0001c0006t0028g0126a0001c0006t0028g0134others(7): Show | 10 | 298 | -2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*14272_*14273delAA | 14272 | |||||
|
chr2:69462187
|
T | G | 0.7013 | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(206): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(122): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(206): Show | 209 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*13682A>C | 13682 | |||||
|
chr2:69462296
|
G | C | 0.7013 | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(206): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(122): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(206): Show | 209 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*13573C>G | 13573 | |||||
|
chr2:69463055
|
A | G | 0.7013 | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(206): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(122): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(206): Show | 209 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*12814T>C | 12814 | |||||
|
chr2:69464211
|
AC | A | 0.0302 | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02559.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0006a0001c0011others(1): Show | a0001c0001t0121a0001c0006t0028a0001c0006t0041others(4): Show | a0001c0001t0121g0186a0001c0006t0028g0126a0001c0006t0028g0134others(6): Show | 9 | 298 | -1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*11657delG | 11657 | |||||
|
chr2:69464230
|
C | A | 0.2081 | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01167.hp1 others(59): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0007others(5): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0020others(36): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(59): Show | 62 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*11639G>T | 11639 | |||||
|
chr2:69466032
|
A | G | 0.0168 | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02818.hp1 HG03471.hp2 others(2): Show |
a0001a0004 | a0001c0006a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(1): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(2): Show | 5 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*9837T>C | 9837 | |||||
|
chr2:69467067
|
A | G | 0.0168 | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02818.hp1 HG03471.hp2 others(2): Show |
a0001a0004 | a0001c0006a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(1): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(2): Show | 5 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*8802T>C | 8802 | |||||
|
chr2:69467150
|
C | T | 0.0168 | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02818.hp1 HG03471.hp2 others(2): Show |
a0001a0004 | a0001c0006a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(1): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(2): Show | 5 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*8719G>A | 8719 | |||||
|
chr2:69468582
|
C | A | 0.0269 | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG02572.hp2 others(5): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0012others(1): Show | a0001c0001t0078a0001c0001t0104a0001c0006t0028others(4): Show | a0001c0001t0078g0055a0001c0001t0104g0292a0001c0006t0028g0126others(5): Show | 8 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*7287G>T | 7287 | |||||
|
chr2:69468761
|
C | T | 0.0235 | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02572.hp2 HG02818.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0012others(1): Show | a0001c0001t0104a0001c0006t0028a0001c0006t0041others(3): Show | a0001c0001t0104g0292a0001c0006t0028g0126a0001c0006t0028g0134others(4): Show | 7 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*7108G>A | 7108 | |||||
|
chr2:69468869
|
G | A | 0.7383 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(124): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(217): Show | 220 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*7000C>T | 7000 | |||||
|
chr2:69469300
|
C | T | 0.0638 | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG02109.hp1 others(16): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0001c0011others(3): Show | a0001c0001t0045a0001c0001t0077a0001c0001t0078others(14): Show | a0001c0001t0045g0287a0001c0001t0077g0072a0001c0001t0078g0055others(16): Show | 19 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*6569G>A | 6569 | |||||
|
chr2:69470284
|
C | T | 0.0638 | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG02109.hp1 others(16): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0001c0011others(3): Show | a0001c0001t0045a0001c0001t0077a0001c0001t0078others(14): Show | a0001c0001t0045g0287a0001c0001t0077g0072a0001c0001t0078g0055others(16): Show | 19 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*5585G>A | 5585 | |||||
|
chr2:69470655
|
C | T | 0.0638 | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG02109.hp1 others(16): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0001c0011others(3): Show | a0001c0001t0045a0001c0001t0077a0001c0001t0078others(14): Show | a0001c0001t0045g0287a0001c0001t0077g0072a0001c0001t0078g0055others(16): Show | 19 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*5214G>A | 5214 | |||||
|
chr2:69471026
|
G | A | 0.7383 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(124): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(217): Show | 220 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*4843C>T | 4843 | |||||
|
chr2:69471640
|
A | T | 0.2718 | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01167.hp1 others(78): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0006others(8): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(43): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(78): Show | 81 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*4229T>A | 4229 | |||||
|
chr2:69474320
|
C | T | 0.0269 | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02559.hp1 others(5): Show |
a0001a0004 | a0001c0006a0001c0011a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(3): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(5): Show | 8 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*1549G>A | 1549 | |||||
|
chr2:69474622
|
G | A | 0.2752 | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01167.hp1 others(79): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0006others(9): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(44): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(79): Show | 82 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*1247C>T | 1247 | |||||
|
chr2:69474962
|
C | A | 0.0336 | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02559.hp1 others(7): Show |
a0001a0004 | a0001c0001a0001c0006a0001c0011others(2): Show | a0001c0001t0104a0001c0006t0028a0001c0006t0041others(5): Show | a0001c0001t0104g0292a0001c0006t0028g0126a0001c0006t0028g0134others(7): Show | 10 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*907G>T | 907 | |||||
|
chr2:69643085
|
A | ATT | 0.3222 | 5_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(93): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(39): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(93): Show | 96 | 298 | 2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/22 | c.-47_-46dupAA | 46 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:69476696
|
C | T | intron_variant | MODIFIER | HG01884.hp2 HG02818.hp1 HG03471.hp2 others(2): Show |
a0001a0004 | a0001c0006a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(1): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(2): Show | 5 | 298 | 0.0168 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 21/21 | c.2791+184G>A | ||||||
|
chr2:69477204
|
T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(125): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(218): Show | 221 | 298 | 0.7416 | 1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 20/21 | c.2681-215dupT | ||||||
|
chr2:69477809
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(88): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(9): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(48): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(88): Show | 91 | 298 | 0.3054 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 20/21 | c.2681-819T>C | ||||||
|
chr2:69477838
|
G | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(64): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(12): Show | a0001c0001t0014a0001c0001t0020a0001c0001t0045others(47): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(64): Show | 67 | 298 | 0.2248 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 20/21 | c.2681-848C>A | ||||||
|
chr2:69480260
|
CA | C | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02280.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0037a0001c0001t0045a0001c0001t0077others(10): Show | a0001c0001t0037g0009a0001c0001t0045g0287a0001c0001t0077g0072others(11): Show | 14 | 298 | 0.0470 | -1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 19/21 | c.2569+599delT | ||||||
|
chr2:69480545
|
A | G | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01167.hp1 others(81): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0011others(7): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(46): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(81): Show | 84 | 298 | 0.2819 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 19/21 | c.2569+315T>C | ||||||
|
chr2:69481947
|
A | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0006a0001c0008others(5): Show | a0001c0004t0002a0001c0004t0010a0001c0004t0014others(22): Show | a0001c0004t0002g0137a0001c0004t0010g0127a0001c0004t0010g0148others(32): Show | 35 | 298 | 0.1175 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 18/21 | c.2467+764T>A | ||||||
|
chr2:69484588
|
T | C | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02280.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0016 | a0001c0001t0037a0001c0001t0045a0001c0001t0077others(5): Show | a0001c0001t0037g0009a0001c0001t0045g0287a0001c0001t0077g0072others(6): Show | 9 | 298 | 0.0302 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2366-1776A>G | ||||||
|
chr2:69484869
|
A | C | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02280.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0016 | a0001c0001t0037a0001c0001t0045a0001c0001t0077others(5): Show | a0001c0001t0037g0009a0001c0001t0045g0287a0001c0001t0077g0072others(6): Show | 9 | 298 | 0.0302 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2366-2057T>G | ||||||
|
chr2:69485735
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(220): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(126): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(220): Show | 223 | 298 | 0.7483 | -1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2366-2924delA | ||||||
|
chr2:69488149
|
C | CGT | intron_variant | MODIFIER | HG01175.hp2 HG01255.hp1 HG01884.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0116others(8): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0007g0081others(10): Show | 13 | 298 | 0.0436 | 2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2366-5339_2366-5338dupAC | ||||||
|
chr2:69488713
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(221): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(127): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(221): Show | 224 | 298 | 0.7517 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2366-5901A>G | ||||||
|
chr2:69488911
|
A | G | intron_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG01928.hp2 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0009others(4): Show | a0001c0001t0037a0001c0001t0045a0001c0001t0077others(12): Show | a0001c0001t0037g0009a0001c0001t0045g0287a0001c0001t0077g0072others(15): Show | 18 | 298 | 0.0604 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2366-6099T>C | ||||||
|
chr2:69489395
|
A | G | intron_variant | MODIFIER | HG01884.hp2 HG01928.hp2 HG02109.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0009others(2): Show | a0001c0001t0037a0001c0001t0045a0001c0001t0077others(7): Show | a0001c0001t0037g0009a0001c0001t0045g0287a0001c0001t0077g0072others(8): Show | 11 | 298 | 0.0369 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2366-6583T>C | ||||||
|
chr2:69489573
|
C | G | intron_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG01928.hp2 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0009others(4): Show | a0001c0001t0037a0001c0001t0045a0001c0001t0077others(12): Show | a0001c0001t0037g0009a0001c0001t0045g0287a0001c0001t0077g0072others(15): Show | 18 | 298 | 0.0604 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+6412G>C | ||||||
|
chr2:69490053
|
T | G | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01167.hp1 others(70): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0009others(6): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(37): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(70): Show | 73 | 298 | 0.2450 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+5932A>C | ||||||
|
chr2:69490250
|
T | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01167.hp1 others(70): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0009others(6): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(37): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(70): Show | 73 | 298 | 0.2450 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+5735A>G | ||||||
|
chr2:69490923
|
C | CCA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(98): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0009others(9): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0037others(54): Show | a0001c0001t0002g0132a0001c0001t0002g0150a0001c0001t0002g0157others(98): Show | 101 | 298 | 0.3389 | 2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+5060_2365+5061dupTG | ||||||
|
chr2:69490986
|
A | G | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00735.hp2 others(77): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0009others(7): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(40): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(77): Show | 80 | 298 | 0.2685 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+4999T>C | ||||||
|
chr2:69492045
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(219): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(125): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(219): Show | 222 | 298 | 0.7450 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+3940T>G | ||||||
|
chr2:69492220
|
C | CT | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02280.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0009others(1): Show | a0001c0001t0004a0001c0001t0037a0001c0001t0045others(7): Show | a0001c0001t0004g0257a0001c0001t0037g0009a0001c0001t0045g0287others(8): Show | 11 | 298 | 0.0369 | 1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+3764dupA | ||||||
|
chr2:69492518
|
C | CTTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02280.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0001c0009others(3): Show | a0001c0001t0037a0001c0001t0045a0001c0001t0077others(7): Show | a0001c0001t0037g0009a0001c0001t0045g0287a0001c0001t0077g0072others(7): Show | 10 | 298 | 0.0336 | 6 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+3461_2365+3466dupAAAAAA | ||||||
|
chr2:69492724
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(221): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(127): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(221): Show | 224 | 298 | 0.7517 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+3261C>T | ||||||
|
chr2:69492890
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(22): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(167): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(294): Show | 297 | 298 | 0.9966 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+3095A>G | ||||||
|
chr2:69493158
|
C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG01884.hp2 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0083a0001c0001t0144a0001c0004t0010others(11): Show | a0001c0001t0083g0016a0001c0001t0144g0232a0001c0004t0010g0148others(13): Show | 16 | 298 | 0.0537 | 21 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+2826_2365+2827insTTTTTTTTTTTTTTTTTTTTT | ||||||
|
chr2:69496273
|
G | GT | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00544.hp2 others(31): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(24): Show | a0001c0001t0002g0125a0001c0001t0002g0132a0001c0001t0002g0149others(31): Show | 34 | 298 | 0.1141 | 1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2270-194dupA | ||||||
|
chr2:69496362
|
T | TC | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(137): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(86): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(137): Show | 140 | 298 | 0.4698 | 1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2270-283dupG | ||||||
|
chr2:69496578
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(137): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(86): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(137): Show | 140 | 298 | 0.4698 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2270-498G>A | ||||||
|
chr2:69497234
|
TAGTA | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(137): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(86): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(137): Show | 140 | 298 | 0.4698 | -4 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2270-1158_2270-1155delTACT | ||||||
|
chr2:69497239
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(137): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(86): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(137): Show | 140 | 298 | 0.4698 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2270-1159C>G | ||||||
|
chr2:69497295
|
C | CTT | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00597.hp2 others(47): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0020others(37): Show | a0001c0001t0004g0233a0001c0001t0004g0254a0001c0001t0011g0201others(47): Show | 50 | 298 | 0.1678 | 2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2270-1217_2270-1216dupAA | ||||||
|
chr2:69497517
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(137): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(86): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(137): Show | 140 | 298 | 0.4698 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2270-1437G>C | ||||||
|
chr2:69498908
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(131): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(225): Show | 228 | 298 | 0.7651 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2270-2828A>G | ||||||
|
chr2:69500698
|
T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02970.hp1 NA20300.hp1 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0014a0001c0006t0028a0001c0006t0042 | a0001c0004t0014g0063a0001c0006t0028g0134a0001c0006t0042g0007 | 3 | 298 | 0.0101 | 10 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2270-4619_2270-4618insGTATATATAT | ||||||
|
chr2:69501023
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(227): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(131): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(227): Show | 230 | 298 | 0.7718 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2269+4546T>C | ||||||
|
chr2:69501720
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(57): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0006others(8): Show | a0001c0003t0012a0001c0003t0022a0001c0003t0026others(40): Show | a0001c0003t0012g0088a0001c0003t0012g0091a0001c0003t0012g0095others(57): Show | 60 | 298 | 0.2013 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2269+3849G>A | ||||||
|
chr2:69503810
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(57): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0006others(8): Show | a0001c0003t0012a0001c0003t0022a0001c0003t0026others(40): Show | a0001c0003t0012g0088a0001c0003t0012g0091a0001c0003t0012g0095others(57): Show | 60 | 298 | 0.2013 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2269+1759G>A | ||||||
|
chr2:69503998
|
TA | T | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00597.hp2 others(85): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(50): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(85): Show | 88 | 298 | 0.2953 | -1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2269+1570delT | ||||||
|
chr2:69504397
|
CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(153): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0002a0001c0001t0014a0001c0001t0037others(91): Show | a0001c0001t0002g0120a0001c0001t0014g0059a0001c0001t0014g0060others(153): Show | 156 | 298 | 0.5235 | -1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2269+1171delT | ||||||
|
chr2:69505135
|
CCA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0004a0001c0006others(13): Show | a0001c0003t0012a0001c0003t0022a0001c0003t0026others(83): Show | a0001c0003t0012g0088a0001c0003t0012g0091a0001c0003t0012g0095others(145): Show | 148 | 298 | 0.4966 | -2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2269+432_2269+433delTG | ||||||
|
chr2:69506868
|
C | CTG | intron_variant | MODIFIER | HG01255.hp1 HG01433.hp1 HG01884.hp2 others(6): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0003c0020others(1): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0113others(5): Show | a0001c0001t0002g0125a0001c0001t0007g0081a0001c0001t0113g0178others(6): Show | 9 | 298 | 0.0302 | 2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 15/21 | c.2164+551_2164+552dupCA | ||||||
|
chr2:69511857
|
A | G | intron_variant | MODIFIER | HG01884.hp2 HG02818.hp1 NA19030.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0028a0001c0006t0041a0001c0006t0042 | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(1): Show | 4 | 298 | 0.0134 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | c.1777-2397T>C | ||||||
|
chr2:69515352
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(129): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(225): Show | 228 | 298 | 0.7651 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | c.1498-603A>G | ||||||
|
chr2:69515592
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(246): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(146): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0004g0206others(246): Show | 249 | 298 | 0.8356 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | c.1498-843T>C | ||||||
|
chr2:69516134
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(129): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(225): Show | 228 | 298 | 0.7651 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | c.1498-1385A>T | ||||||
|
chr2:69516314
|
G | GA | intron_variant | MODIFIER | HG00735.hp2 HG01884.hp2 HG02004.hp2 others(8): Show |
a0001a0002 | a0001c0006a0001c0011a0002c0002 | a0001c0006t0016a0001c0006t0028a0001c0006t0041others(4): Show | a0001c0006t0016g0017a0001c0006t0016g0061a0001c0006t0016g0289others(8): Show | 11 | 298 | 0.0369 | 1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | c.1498-1566dupT | ||||||
|
chr2:69517668
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(123): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(216): Show | 219 | 298 | 0.7349 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | c.1497+1286G>A | ||||||
|
chr2:69518420
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(241): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0006others(14): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(135): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(241): Show | 244 | 298 | 0.8188 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | c.1497+534A>C | ||||||
|
chr2:69518481
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(220): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(127): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(220): Show | 223 | 298 | 0.7483 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | c.1497+473T>C | ||||||
|
chr2:69520685
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(125): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(217): Show | 220 | 298 | 0.7383 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 11/21 | c.1210+149C>G | ||||||
|
chr2:69524071
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(123): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(216): Show | 219 | 298 | 0.7349 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | c.1055+962G>A | ||||||
|
chr2:69524412
|
TTTTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(206): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(117): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(206): Show | 209 | 298 | 0.7013 | -5 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | c.1055+616_1055+620delCAAAA | ||||||
|
chr2:69524617
|
T | TAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(22): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(167): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(294): Show | 297 | 298 | 0.9966 | 2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | c.1055+414_1055+415dupCT | ||||||
|
chr2:69532283
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(125): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(218): Show | 221 | 298 | 0.7416 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.535-121C>T | ||||||
|
chr2:69534315
|
G | A | intron_variant | MODIFIER | HG01884.hp2 HG02818.hp1 NA19030.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0028a0001c0006t0041a0001c0006t0042 | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(1): Show | 4 | 298 | 0.0134 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.535-2153C>T | ||||||
|
chr2:69534628
|
T | A | intron_variant | MODIFIER | HG01884.hp2 HG02818.hp1 NA19030.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0028a0001c0006t0041a0001c0006t0042 | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(1): Show | 4 | 298 | 0.0134 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.535-2466A>T | ||||||
|
chr2:69534697
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(123): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(216): Show | 219 | 298 | 0.7349 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.535-2535G>T | ||||||
|
chr2:69536454
|
G | T | intron_variant | MODIFIER | HG01884.hp2 NA19030.hp2 |
a0001 | a0001c0006 | a0001c0006t0041a0001c0006t0042 | a0001c0006t0041g0008a0001c0006t0042g0007 | 2 | 298 | 0.0067 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.535-4292C>A | ||||||
|
chr2:69540115
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(126): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(217): Show | 220 | 298 | 0.7383 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+2408T>G | ||||||
|
chr2:69540417
|
G | A | intron_variant | MODIFIER | HG01884.hp2 NA19030.hp2 |
a0001 | a0001c0006 | a0001c0006t0041a0001c0006t0042 | a0001c0006t0041g0008a0001c0006t0042g0007 | 2 | 298 | 0.0067 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+2106C>T | ||||||
|
chr2:69540671
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(125): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(216): Show | 219 | 298 | 0.7349 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+1852T>C | ||||||
|
chr2:69541104
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(126): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(217): Show | 220 | 298 | 0.7383 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+1419G>C | ||||||
|
chr2:69542845
|
A | G | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02818.hp1 others(2): Show |
a0001a0003 | a0001c0006a0003c0020 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(1): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(2): Show | 5 | 298 | 0.0168 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | c.392-180T>C | ||||||
|
chr2:69544352
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(205): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(116): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(205): Show | 208 | 298 | 0.6980 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | c.391+84G>A | ||||||
|
chr2:69546098
|
C | CT | intron_variant | MODIFIER | HG01243.hp2 HG01433.hp1 HG01884.hp2 others(15): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0001c0011others(4): Show | a0001c0001t0008a0001c0001t0045a0001c0001t0063others(12): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0045g0287others(15): Show | 18 | 298 | 0.0604 | 1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.283-1555dupA | ||||||
|
chr2:69546148
|
A | C | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(4): Show |
a0001a0003a0004 | a0001c0006a0003c0020a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(3): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(4): Show | 7 | 298 | 0.0235 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.283-1604T>G | ||||||
|
chr2:69548561
|
TTTTC | T | intron_variant | MODIFIER | HG01884.hp2 HG02818.hp1 NA19030.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0028a0001c0006t0041a0001c0006t0042 | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(1): Show | 4 | 298 | 0.0134 | -4 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.283-4021_283-4018delGAAA | ||||||
|
chr2:69548690
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(127): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(216): Show | 219 | 298 | 0.7349 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.283-4146A>G | ||||||
|
chr2:69550356
|
G | T | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(4): Show |
a0001a0003a0004 | a0001c0006a0003c0020a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(3): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(4): Show | 7 | 298 | 0.0235 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.283-5812C>A | ||||||
|
chr2:69550373
|
C | T | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(4): Show |
a0001a0003a0004 | a0001c0006a0003c0020a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(3): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(4): Show | 7 | 298 | 0.0235 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.283-5829G>A | ||||||
|
chr2:69552831
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(126): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(215): Show | 218 | 298 | 0.7315 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.282+4029G>T | ||||||
|
chr2:69553630
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(126): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(215): Show | 218 | 298 | 0.7315 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.282+3230G>A | ||||||
|
chr2:69553741
|
C | T | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(4): Show |
a0001a0003a0004 | a0001c0006a0003c0020a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(3): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(4): Show | 7 | 298 | 0.0235 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.282+3119G>A | ||||||
|
chr2:69553914
|
GA | G | intron_variant | MODIFIER | HG01243.hp2 HG01433.hp1 HG01884.hp2 others(5): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0003c0020others(1): Show | a0001c0001t0140a0001c0006t0028a0001c0006t0041others(4): Show | a0001c0001t0140g0269a0001c0006t0028g0126a0001c0006t0028g0134others(5): Show | 8 | 298 | 0.0269 | -1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.282+2945delT | ||||||
|
chr2:69554398
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(126): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(215): Show | 218 | 298 | 0.7315 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.282+2462G>T | ||||||
|
chr2:69554865
|
C | A | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(4): Show |
a0001a0003a0004 | a0001c0006a0003c0020a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(3): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(4): Show | 7 | 298 | 0.0235 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.282+1995G>T | ||||||
|
chr2:69556663
|
G | GCTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(127): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(217): Show | 220 | 298 | 0.7383 | 3 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.282+196_282+197insGAG | ||||||
|
chr2:69557146
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(127): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(217): Show | 220 | 298 | 0.7383 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-168A>G | ||||||
|
chr2:69557301
|
CTT | C | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(4): Show |
a0001a0003a0004 | a0001c0006a0003c0020a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(3): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(4): Show | 7 | 298 | 0.0235 | -2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-325_164-324delAA | ||||||
|
chr2:69557386
|
T | C | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(4): Show |
a0001a0003a0004 | a0001c0006a0003c0020a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(3): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(4): Show | 7 | 298 | 0.0235 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-408A>G | ||||||
|
chr2:69557444
|
G | A | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(4): Show |
a0001a0003a0004 | a0001c0006a0003c0020a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(3): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(4): Show | 7 | 298 | 0.0235 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-466C>T | ||||||
|
chr2:69558049
|
C | T | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(4): Show |
a0001a0003a0004 | a0001c0006a0003c0020a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(3): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(4): Show | 7 | 298 | 0.0235 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-1071G>A | ||||||
|
chr2:69558163
|
C | T | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(4): Show |
a0001a0003a0004 | a0001c0006a0003c0020a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(3): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(4): Show | 7 | 298 | 0.0235 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-1185G>A | ||||||
|
chr2:69558281
|
T | C | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(4): Show |
a0001a0003a0004 | a0001c0006a0003c0020a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(3): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(4): Show | 7 | 298 | 0.0235 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-1303A>G | ||||||
|
chr2:69558339
|
CA | C | intron_variant | MODIFIER | HG01167.hp2 HG01433.hp1 HG01884.hp2 others(5): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0003c0020others(1): Show | a0001c0001t0027a0001c0006t0028a0001c0006t0041others(4): Show | a0001c0001t0027g0128a0001c0006t0028g0126a0001c0006t0028g0134others(5): Show | 8 | 298 | 0.0269 | -1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-1362delT | ||||||
|
chr2:69558713
|
T | A | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(4): Show |
a0001a0003a0004 | a0001c0006a0003c0020a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(3): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(4): Show | 7 | 298 | 0.0235 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-1735A>T | ||||||
|
chr2:69558739
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(127): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(217): Show | 220 | 298 | 0.7383 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-1761A>G | ||||||
|
chr2:69559036
|
A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(127): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(217): Show | 220 | 298 | 0.7383 | 1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-2059dupA | ||||||
|
chr2:69559056
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(122): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0037others(70): Show | a0001c0001t0004g0258a0001c0001t0007g0049a0001c0001t0007g0065others(122): Show | 125 | 298 | 0.4195 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-2078C>T | ||||||
|
chr2:69559249
|
A | ATC | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02818.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0020 | a0001c0001t0011a0001c0001t0101a0001c0006t0028others(3): Show | a0001c0001t0011g0195a0001c0001t0101g0118a0001c0006t0028g0126others(3): Show | 6 | 298 | 0.0201 | 2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-2273_164-2272dupGA | ||||||
|
chr2:69560269
|
C | G | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(4): Show |
a0001a0003a0004 | a0001c0006a0003c0020a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(3): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(4): Show | 7 | 298 | 0.0235 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-3291G>C | ||||||
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chr2:69560327
|
G | T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0006 | a0001c0006t0042 | a0001c0006t0042g0007 | 1 | 298 | 0.0034 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-3349C>A | ||||||
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chr2:69560874
|
G | T | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(4): Show |
a0001a0003a0004 | a0001c0006a0003c0020a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(3): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(4): Show | 7 | 298 | 0.0235 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-3896C>A | ||||||
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chr2:69560949
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(128): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(218): Show | 221 | 298 | 0.7416 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-3971A>G | ||||||
|
chr2:69561122
|
C | T | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(4): Show |
a0001a0003a0004 | a0001c0006a0003c0020a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(3): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(4): Show | 7 | 298 | 0.0235 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-4144G>A | ||||||
|
chr2:69561365
|
A | G | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(11): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0001c0011others(3): Show | a0001c0001t0008a0001c0001t0105a0001c0006t0028others(8): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0105g0108others(11): Show | 14 | 298 | 0.0470 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-4387T>C | ||||||
|
chr2:69561675
|
G | A | intron_variant | MODIFIER | HG00735.hp2 HG01884.hp2 HG02109.hp2 others(9): Show |
a0001a0004 | a0001c0001a0001c0006a0001c0026others(1): Show | a0001c0001t0008a0001c0001t0105a0001c0006t0016others(6): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0105g0108others(9): Show | 12 | 298 | 0.0403 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-4697C>T | ||||||
|
chr2:69562121
|
T | C | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0026others(4): Show | a0001c0001t0008a0001c0001t0105a0001c0006t0041others(7): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0105g0108others(8): Show | 11 | 298 | 0.0369 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-5143A>G | ||||||
|
chr2:69562193
|
G | A | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0026others(4): Show | a0001c0001t0008a0001c0001t0105a0001c0006t0041others(7): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0105g0108others(8): Show | 11 | 298 | 0.0369 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-5215C>T | ||||||
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chr2:69563003
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG01433.hp1 HG01884.hp2 others(39): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0014a0001c0001t0037a0001c0001t0077others(31): Show | a0001c0001t0014g0059a0001c0001t0037g0009a0001c0001t0077g0072others(39): Show | 42 | 298 | 0.1409 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-6025T>C | ||||||
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chr2:69563284
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG01884.hp2 HG01891.hp2 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0008a0001c0001t0037a0001c0001t0063others(29): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0037g0009others(38): Show | 41 | 298 | 0.1376 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-6306T>C | ||||||
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chr2:69564286
|
A | T | intron_variant | MODIFIER | HG01884.hp2 NA19030.hp2 |
a0001 | a0001c0006 | a0001c0006t0041a0001c0006t0042 | a0001c0006t0041g0008a0001c0006t0042g0007 | 2 | 298 | 0.0067 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-7308T>A | ||||||
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chr2:69565717
|
T | C | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02257.hp1 others(8): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0008a0001c0001t0063a0001c0001t0105others(7): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0063g0288others(8): Show | 11 | 298 | 0.0369 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-8739A>G | ||||||
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chr2:69566860
|
G | A | intron_variant | MODIFIER | HG01884.hp2 NA19030.hp2 |
a0001 | a0001c0006 | a0001c0006t0041a0001c0006t0042 | a0001c0006t0041g0008a0001c0006t0042g0007 | 2 | 298 | 0.0067 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-9882C>T | ||||||
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chr2:69567550
|
G | A | intron_variant | MODIFIER | HG01884.hp2 NA19030.hp2 |
a0001 | a0001c0006 | a0001c0006t0041a0001c0006t0042 | a0001c0006t0041g0008a0001c0006t0042g0007 | 2 | 298 | 0.0067 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-10572C>T | ||||||
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chr2:69567570
|
A | T | intron_variant | MODIFIER | HG01884.hp2 NA19030.hp2 |
a0001 | a0001c0006 | a0001c0006t0041a0001c0006t0042 | a0001c0006t0041g0008a0001c0006t0042g0007 | 2 | 298 | 0.0067 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-10592T>A | ||||||
|
chr2:69568006
|
C | T | intron_variant | MODIFIER | HG01884.hp2 NA19030.hp2 |
a0001 | a0001c0006 | a0001c0006t0041a0001c0006t0042 | a0001c0006t0041g0008a0001c0006t0042g0007 | 2 | 298 | 0.0067 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-11028G>A | ||||||
|
chr2:69568425
|
C | CT | intron_variant | MODIFIER | HG01175.hp1 HG01884.hp2 HG02738.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0004a0001c0006t0041a0001c0006t0042others(3): Show | a0001c0001t0004g0261a0001c0006t0041g0008a0001c0006t0042g0007others(3): Show | 6 | 298 | 0.0201 | 1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-11448dupA | ||||||
|
chr2:69570953
|
T | TC | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00735.hp2 others(111): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(71): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(111): Show | 114 | 298 | 0.3826 | 1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-13976_164-13975insG | ||||||
|
chr2:69570955
|
T | A | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00735.hp2 others(111): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(71): Show |