| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:69458707
|
G | GCA | 0.0537 | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG01167.hp1 HG02257.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0005others(2): Show | a0001c0001t0073a0001c0001t0078a0001c0001t0099others(9): Show | a0001c0001t0073g0052a0001c0001t0078g0055a0001c0001t0099g0161others(13): Show | 16 | 298 | 2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*17160_*17161dupTG | 17161 | |||||
|
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 | |||||
|
chr2:69460454
|
A | G | 0.1544 | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01167.hp1 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0002c0005others(2): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0020others(22): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(43): Show | 46 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*15415T>C | 15415 | |||||
|
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 | |||||
|
chr2:69461374
|
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 | |||||
|
chr2:69461595
|
AT | A | 0.1342 | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01167.hp1 others(37): Show |
a0001a0003a0004 | a0001c0001a0001c0007a0003c0020others(1): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0020others(18): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(37): Show | 40 | 298 | -1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*14273delA | 14273 | |||||
|
chr2:69461856
|
T | G | 0.0034 | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0055 | 1 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*14013A>C | 14013 | |||||
|
chr2:69462160
|
T | C | 0.0034 | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0055 | 1 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*13709A>G | 13709 | |||||
|
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 | |||||
|
chr2:69462376
|
T | A | 0.0101 | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG01433.hp1 HG02257.hp2 |
a0001a0002a0003 | a0001c0001a0002c0019a0003c0020 | a0001c0001t0078a0002c0019t0065a0003c0020t0084 | a0001c0001t0078g0055a0002c0019t0065g0062a0003c0020t0084g0105 | 3 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*13493A>T | 13493 | |||||
|
chr2:69462652
|
A | T | 0.0034 | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0055 | 1 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*13217T>A | 13217 | |||||
|
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 | |||||
|
chr2:69463065
|
A | G | 0.0034 | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0055 | 1 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*12804T>C | 12804 | |||||
|
chr2:69463125
|
C | T | 0.0034 | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0055 | 1 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*12744G>A | 12744 | |||||
|
chr2:69463668
|
C | T | 0.0034 | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0055 | 1 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*12201G>A | 12201 | |||||
|
chr2:69463897
|
T | C | 0.1846 | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01167.hp1 others(52): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0001c0011others(2): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0020others(30): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(52): Show | 55 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*11972A>G | 11972 | |||||
|
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 | |||||
|
chr2:69465124
|
C | T | 0.0134 | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG02572.hp2 HG02970.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0078a0001c0001t0090a0001c0001t0104others(1): Show | a0001c0001t0078g0055a0001c0001t0090g0119a0001c0001t0104g0292others(1): Show | 4 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*10745G>A | 10745 | |||||
|
chr2:69466265
|
G | T | 0.0101 | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG02572.hp2 HG02970.hp2 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0078a0001c0001t0104a0004c0013t0043 | a0001c0001t0078g0055a0001c0001t0104g0292a0004c0013t0043g0284 | 3 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*9604C>A | 9604 | |||||
|
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 | |||||
|
chr2:69468869
|
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 | |||||
|
chr2:69469559
|
C | T | 0.0034 | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0055 | 1 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*6310G>A | 6310 | |||||
|
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 | |||||
|
chr2:69473357
|
T | C | 0.0101 | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG02572.hp2 HG02970.hp2 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0078a0001c0001t0104a0004c0013t0043 | a0001c0001t0078g0055a0001c0001t0104g0292a0004c0013t0043g0284 | 3 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*2512A>G | 2512 | |||||
|
chr2:69473879
|
G | T | 0.0034 | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0055 | 1 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*1990C>A | 1990 | |||||
|
chr2:69474540
|
T | A | 0.0034 | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0055 | 1 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*1329A>T | 1329 | |||||
|
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 | |||||
|
chr2:69643085
|
A | AT | 0.3725 | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(108): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0014others(64): Show | a0001c0001t0007g0027a0001c0001t0007g0049a0001c0001t0007g0065others(108): Show | 111 | 298 | 1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/22 | c.-46dupA | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:69476116
|
T | G | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0055 | 1 | 298 | 0.0034 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 21/21 | c.2792-153A>C | ||||||
|
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 | ||||||
|
chr2:69480545
|
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 | ||||||
|
chr2:69482926
|
G | A | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01167.hp1 others(63): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0005a0003c0020others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(32): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(63): Show | 66 | 298 | 0.2215 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2366-114C>T | ||||||
|
chr2:69484743
|
C | T | intron_variant | MODIFIER | HG01167.hp1 HG02572.hp2 HG02965.hp2 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0078a0004c0013t0043a0004c0013t0107 | a0001c0001t0078g0055a0004c0013t0043g0284a0004c0013t0107g0107 | 3 | 298 | 0.0101 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2366-1931G>A | ||||||
|
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 | ||||||
|
chr2:69486113
|
C | T | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01167.hp1 others(68): Show |
a0001a0002a0004 | a0001c0001a0001c0011a0001c0026others(3): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(34): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(68): Show | 71 | 298 | 0.2383 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2366-3301G>A | ||||||
|
chr2:69486370
|
G | T | intron_variant | MODIFIER | HG01167.hp1 HG02109.hp1 HG02280.hp1 others(8): Show |
a0001a0002a0004 | a0001c0001a0002c0005a0004c0013 | a0001c0001t0037a0001c0001t0045a0001c0001t0077others(6): Show | a0001c0001t0037g0009a0001c0001t0045g0287a0001c0001t0077g0072others(8): Show | 11 | 298 | 0.0369 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2366-3558C>A | ||||||
|
chr2:69488149
|
C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02145.hp1 HG02486.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0002 | a0001c0001t0076a0001c0001t0078a0001c0001t0102others(4): Show | a0001c0001t0076g0037a0001c0001t0078g0055a0001c0001t0102g0113others(4): Show | 7 | 298 | 0.0235 | 10 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2366-5347_2366-5338dupACACACACAC | ||||||
|
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 | ||||||
|
chr2:69489038
|
G | A | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0055 | 1 | 298 | 0.0034 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2366-6226C>T | ||||||
|
chr2:69489450
|
C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(72): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(16): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0014others(53): Show | a0001c0001t0002g0132a0001c0001t0006g0223a0001c0001t0014g0059others(72): Show | 75 | 298 | 0.2517 | 1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+6534dupT | ||||||
|
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 | CCACACAC others(3): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02559.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0005a0004c0013 | a0001c0001t0014a0001c0001t0078a0002c0005t0018others(2): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(6): Show | 9 | 298 | 0.0302 | 10 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+5052_2365+5061dupTGTGTGTGTG | ||||||
|
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 | ||||||
|
chr2:69491822
|
A | G | intron_variant | MODIFIER | HG00735.hp2 HG01167.hp1 HG01243.hp1 others(11): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0001c0026others(2): Show | a0001c0001t0014a0001c0001t0078a0001c0006t0016others(5): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(11): Show | 14 | 298 | 0.0470 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+4163T>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 | ||||||
|
chr2:69492136
|
C | T | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00735.hp2 others(68): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0001c0011others(4): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(32): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(68): Show | 71 | 298 | 0.2383 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+3849G>A | ||||||
|
chr2:69492518
|
C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01167.hp1 HG01258.hp1 others(15): Show |
a0001a0004 | a0001c0001a0001c0011a0004c0013 | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(9): Show | a0001c0001t0004g0221a0001c0001t0004g0233a0001c0001t0004g0258others(15): Show | 18 | 298 | 0.0604 | 8 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+3459_2365+3466dupAAAAAAAA | ||||||
|
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(4): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01433.hp2 HG02896.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0078a0001c0007t0021a0001c0007t0034others(3): Show | a0001c0001t0078g0055a0001c0007t0021g0279a0001c0007t0034g0270others(3): Show | 6 | 298 | 0.0201 | 11 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+2816_2365+2826dupTTTTTTTTTTT | ||||||
|
chr2:69493808
|
C | T | intron_variant | MODIFIER | HG01167.hp1 HG02572.hp2 HG02965.hp2 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0078a0004c0013t0043a0004c0013t0107 | a0001c0001t0078g0055a0004c0013t0043g0284a0004c0013t0107g0107 | 3 | 298 | 0.0101 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+2177G>A | ||||||
|
chr2:69494983
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(212): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(119): Show | a0001c0001t0002g0132a0001c0001t0004g0206a0001c0001t0004g0216others(212): Show | 215 | 298 | 0.7215 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+1002C>T | ||||||
|
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 | ||||||
|
chr2:69500696
|
T | TACACAC | intron_variant | MODIFIER | HG01167.hp1 HG02280.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0078a0001c0003t0022a0001c0009t0125 | a0001c0001t0078g0055a0001c0003t0022g0010a0001c0009t0125g0179 | 3 | 298 | 0.0101 | 6 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2270-4617_2270-4616insGTGTGT | ||||||
|
chr2:69500698
|
T | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01167.hp1 others(80): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0009others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(48): Show | a0001c0001t0002g0130a0001c0001t0002g0152a0001c0001t0004g0206others(80): Show | 83 | 298 | 0.2785 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2270-4618A>G | ||||||
|
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 | ||||||
|
chr2:69503998
|
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 | ||||||
|
chr2:69505133
|
ACC | A | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01167.hp1 others(58): Show |
a0001a0004 | a0001c0001a0001c0007a0001c0009others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(30): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(58): Show | 61 | 298 | 0.2047 | -2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2269+434_2269+435delGG | ||||||
|
chr2:69506640
|
G | A | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0055 | 1 | 298 | 0.0034 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 15/21 | c.2164+781C>T | ||||||
|
chr2:69506868
|
C | CTGTGTG | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(106): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(64): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(106): Show | 109 | 298 | 0.3658 | 6 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 15/21 | c.2164+547_2164+552dupCACACA | ||||||
|
chr2:69506928
|
C | T | intron_variant | MODIFIER | HG01167.hp1 HG02109.hp1 HG02280.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0037a0001c0001t0045a0001c0001t0077others(4): Show | a0001c0001t0037g0009a0001c0001t0045g0287a0001c0001t0077g0072others(4): Show | 7 | 298 | 0.0235 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 15/21 | c.2164+493G>A | ||||||
|
chr2:69511380
|
A | T | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0055 | 1 | 298 | 0.0034 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | c.1777-1920T>A | ||||||
|
chr2:69511658
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(104): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(61): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(104): Show | 107 | 298 | 0.3591 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | c.1777-2198A>G | ||||||
|
chr2:69512959
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(16): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(117): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(208): Show | 211 | 298 | 0.7081 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | c.1776+1512G>A | ||||||
|
chr2:69514334
|
G | A | intron_variant | MODIFIER | HG01167.hp1 HG02965.hp2 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0078a0004c0013t0107 | a0001c0001t0078g0055a0004c0013t0107g0107 | 2 | 298 | 0.0067 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | c.1776+137C>T | ||||||
|
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 | ||||||
|
chr2:69517668
|
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 | ||||||
|
chr2:69517882
|
T | G | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0055 | 1 | 298 | 0.0034 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | c.1497+1072A>C | ||||||
|
chr2:69518213
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(101): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(60): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(101): Show | 104 | 298 | 0.3490 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | c.1497+741A>G | ||||||
|
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 | ||||||
|
chr2:69518449
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(98): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(60): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(98): Show | 101 | 298 | 0.3389 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | c.1497+505A>G | ||||||
|
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 | ||||||
|
chr2:69520358
|
C | CTT | intron_variant | MODIFIER | HG01167.hp1 HG03041.hp2 HG03540.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0078a0001c0003t0012a0001c0003t0022others(5): Show | a0001c0001t0078g0055a0001c0003t0012g0096a0001c0003t0022g0010others(6): Show | 9 | 298 | 0.0302 | 2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 11/21 | c.1210+474_1210+475dupAA | ||||||
|
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 | ||||||
|
chr2:69522803
|
C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01167.hp1 others(47): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0002a0001c0001t0014a0001c0001t0037others(35): Show | a0001c0001t0002g0155a0001c0001t0014g0059a0001c0001t0014g0060others(47): Show | 50 | 298 | 0.1678 | 1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | c.1056-1816dupT | ||||||
|
chr2:69523223
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01167.hp1 others(46): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0014a0001c0001t0037a0001c0001t0045others(34): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(46): Show | 49 | 298 | 0.1644 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | c.1055+1810C>G | ||||||
|
chr2:69524019
|
T | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01167.hp1 others(49): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0014a0001c0001t0037a0001c0001t0063others(36): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(49): Show | 52 | 298 | 0.1745 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | c.1055+1014A>T | ||||||
|
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 | ||||||
|
chr2:69524366
|
C | T | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0055 | 1 | 298 | 0.0034 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | c.1055+667G>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 | ||||||
|
chr2:69524675
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01167.hp1 others(49): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0014a0001c0001t0037a0001c0001t0063others(36): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(49): Show | 52 | 298 | 0.1745 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | c.1055+358A>G | ||||||
|
chr2:69524724
|
C | T | intron_variant | MODIFIER | HG01167.hp1 HG02280.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0077a0001c0001t0078others(1): Show | a0001c0001t0037g0009a0001c0001t0077g0072a0001c0001t0078g0055others(1): Show | 4 | 298 | 0.0134 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | c.1055+309G>A | ||||||
|
chr2:69526033
|
C | T | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0055 | 1 | 298 | 0.0034 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 9/21 | c.976-921G>A | ||||||
|
chr2:69529583
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01167.hp1 others(51): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0014a0001c0001t0037a0001c0001t0063others(38): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(51): Show | 54 | 298 | 0.1812 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 8/21 | c.871+425G>A | ||||||
|
chr2:69529606
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01167.hp1 others(50): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0014a0001c0001t0037a0001c0001t0063others(37): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(50): Show | 53 | 298 | 0.1779 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 8/21 | c.871+402G>C | ||||||
|
chr2:69531315
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01167.hp1 others(42): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0014a0001c0001t0037a0001c0001t0063others(30): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(42): Show | 45 | 298 | 0.1510 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 6/21 | c.657-609G>A | ||||||
|
chr2:69531451
|
A | T | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0055 | 1 | 298 | 0.0034 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 6/21 | c.656+590T>A | ||||||
|
chr2:69531732
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01167.hp1 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0014a0001c0001t0037a0001c0001t0063others(35): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(48): Show | 51 | 298 | 0.1711 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 6/21 | c.656+309G>A | ||||||
|
chr2:69531857
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01167.hp1 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0014a0001c0001t0037a0001c0001t0063others(35): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(48): Show | 51 | 298 | 0.1711 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 6/21 | c.656+184G>A | ||||||
|
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 | ||||||
|
chr2:69532373
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01167.hp1 others(53): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0014a0001c0001t0037a0001c0001t0063others(39): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(53): Show | 56 | 298 | 0.1879 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.535-211T>G | ||||||
|
chr2:69533710
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01167.hp1 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0014a0001c0001t0037a0001c0001t0063others(35): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(48): Show | 51 | 298 | 0.1711 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.535-1548G>A | ||||||
|
chr2:69534201
|
C | T | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01243.hp2 others(14): Show |
a0001a0003a0004 | a0001c0001a0001c0026a0003c0014others(3): Show | a0001c0001t0014a0001c0001t0037a0001c0001t0063others(11): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(14): Show | 17 | 298 | 0.0571 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.535-2039G>A | ||||||
|
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 | ||||||
|
chr2:69535109
|
T | C | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01243.hp2 others(18): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0011others(5): Show | a0001c0001t0014a0001c0001t0037a0001c0001t0063others(14): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(18): Show | 21 | 298 | 0.0705 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.535-2947A>G | ||||||
|
chr2:69535259
|
C | T | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01243.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0026others(6): Show | a0001c0001t0014a0001c0001t0037a0001c0001t0045others(16): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(19): Show | 22 | 298 | 0.0738 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.535-3097G>A | ||||||
|
chr2:69536255
|
A | G | intron_variant | MODIFIER | HG01167.hp1 HG02280.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0037a0001c0001t0077a0001c0001t0078others(2): Show | a0001c0001t0037g0009a0001c0001t0077g0072a0001c0001t0078g0055others(2): Show | 5 | 298 | 0.0168 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.535-4093T>C | ||||||
|
chr2:69536608
|
C | T | intron_variant | MODIFIER | HG01167.hp1 HG02280.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0037a0001c0001t0077a0001c0001t0078others(2): Show | a0001c0001t0037g0009a0001c0001t0077g0072a0001c0001t0078g0055others(2): Show | 5 | 298 | 0.0168 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.535-4446G>A | ||||||
|
chr2:69536951
|
T | C | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01243.hp2 others(12): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0026others(2): Show | a0001c0001t0014a0001c0001t0037a0001c0001t0063others(10): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(12): Show | 15 | 298 | 0.0503 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.535-4789A>G | ||||||
|
chr2:69537169
|
C | T | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG01928.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0026others(1): Show | a0001c0001t0063a0001c0001t0078a0001c0001t0105others(5): Show | a0001c0001t0063g0288a0001c0001t0078g0055a0001c0001t0105g0108others(5): Show | 8 | 298 | 0.0269 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.535-5007G>A | ||||||
|
chr2:69537599
|
T | C | intron_variant | MODIFIER | HG01167.hp1 HG01928.hp2 HG02257.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0078a0001c0001t0124a0001c0003t0081others(5): Show | a0001c0001t0078g0055a0001c0001t0124g0188a0001c0003t0081g0080others(5): Show | 8 | 298 | 0.0269 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+4924A>G | ||||||
|
chr2:69537739
|
G | A | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG01928.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0045a0001c0001t0063a0001c0001t0078others(12): Show | a0001c0001t0045g0287a0001c0001t0063g0288a0001c0001t0078g0055others(12): Show | 15 | 298 | 0.0503 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+4784C>T | ||||||
|
chr2:69538051
|
G | A | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01243.hp2 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0008a0001c0001t0014a0001c0001t0045others(26): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0014g0059others(30): Show | 33 | 298 | 0.1107 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+4472C>T | ||||||
|
chr2:69538089
|
T | A | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01243.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0008a0001c0001t0014a0001c0001t0045others(25): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0014g0059others(29): Show | 32 | 298 | 0.1074 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+4434A>T | ||||||
|
chr2:69539003
|
C | G | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01928.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0014a0001c0001t0078a0001c0003t0081others(17): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(20): Show | 23 | 298 | 0.0772 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+3520G>C | ||||||
|
chr2:69539273
|
T | C | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01243.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0008a0001c0001t0014a0001c0001t0045others(25): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0014g0059others(29): Show | 32 | 298 | 0.1074 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+3250A>G | ||||||
|
chr2:69539416
|
CG | C | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01243.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0008a0001c0001t0014a0001c0001t0045others(25): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0014g0059others(29): Show | 32 | 298 | 0.1074 | -1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+3106delC | ||||||
|
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 | ||||||
|
chr2:69540121
|
C | CTT | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02257.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0008a0001c0001t0014a0001c0001t0078others(16): Show | a0001c0001t0008g0012a0001c0001t0014g0059a0001c0001t0014g0060others(20): Show | 23 | 298 | 0.0772 | 2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+2400_534+2401dupAA | ||||||
|
chr2:69540243
|
G | T | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01243.hp2 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0008a0001c0001t0014a0001c0001t0045others(27): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0014g0059others(32): Show | 35 | 298 | 0.1175 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+2280C>A | ||||||
|
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 | ||||||
|
chr2:69540960
|
G | A | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01243.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0008a0001c0001t0014a0001c0001t0045others(25): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0014g0059others(29): Show | 32 | 298 | 0.1074 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+1563C>T | ||||||
|
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 | ||||||
|
chr2:69541227
|
CTTTT | C | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01928.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0014a0001c0001t0078a0001c0003t0081others(17): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(20): Show | 23 | 298 | 0.0772 | -4 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+1292_534+1295delAAAA | ||||||
|
chr2:69541377
|
T | C | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02280.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0014a0001c0001t0078a0001c0003t0081others(13): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(16): Show | 19 | 298 | 0.0638 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+1146A>G | ||||||
|
chr2:69542731
|
G | A | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02280.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0014a0001c0001t0078a0001c0003t0081others(13): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(16): Show | 19 | 298 | 0.0638 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | c.392-66C>T | ||||||
|
chr2:69543702
|
G | A | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02280.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0014a0001c0001t0078a0001c0003t0081others(14): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(17): Show | 20 | 298 | 0.0671 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | c.391+734C>T | ||||||
|
chr2:69544266
|
G | A | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01243.hp2 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0008a0001c0001t0014a0001c0001t0021others(22): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0014g0059others(26): Show | 29 | 298 | 0.0973 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | c.391+170C>T | ||||||
|
chr2:69544332
|
A | T | intron_variant | MODIFIER | HG01167.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0078a0001c0003t0081 | a0001c0001t0078g0055a0001c0003t0081g0080 | 2 | 298 | 0.0067 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | c.391+104T>A | ||||||
|
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 | ||||||
|
chr2:69546110
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00597.hp2 others(122): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(78): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(122): Show | 125 | 298 | 0.4195 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.283-1566G>A | ||||||
|
chr2:69546641
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(201): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(16): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(115): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(201): Show | 204 | 298 | 0.6846 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.283-2097G>C | ||||||
|
chr2:69547972
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(120): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(208): Show |