view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AAK1_chr2_69452997_69648739 | 69514507 | A | G | synonymous_variant | LOW | HG03710.hp1 | a0002 | a0002c0024 | a0002c0024t0060 | a0002c0024t0060g0031 | 1 | 298 | 0.0034 | 0 | c.174 others(4): Show |
p.Ala others(6): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/22 | 2139/21157 | 1740/2886 | 580/961 | chr2 | TogoVar | |||
AAK1_chr2_69452997_69648739 | 69514669 | C | T | synonymous_variant | LOW | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(39): Show |
a0001a0005a0006 | a0001c0003a0001c0004a0001c0008others(2): Show | a0001c0003t0012a0001c0003t0022a0001c0003t0026others(27): Show | a0001c0003t0012g0088 a0001c0003t0012g0091 a0001c0003t0012g0095 others(39): Show |
42 | 298 | 0.1409 | 0 | c.157 others(4): Show |
p.Gln others(6): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/22 | 1977/21157 | 1578/2886 | 526/961 | chr2 | TogoVar | |||
AAK1_chr2_69452997_69648739 | 69514722 | T | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(167): Show | a0001c0001t0002g0114 a0001c0001t0002g0120 a0001c0001t0002g0125 others(294): Show |
297 | 298 | 0.9966 | 0 | c.152 others(4): Show |
p.Lys others(6): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/22 | 1924/21157 | 1525/2886 | 509/961 | chr2 | TogoVar | |||
AAK1_chr2_69452997_69648739 | 69514935 | T | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(99): Show |
a0002a0003 | a0002c0002a0002c0005a0002c0015others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(51): Show | a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0028 others(99): Show |
102 | 298 | 0.3423 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69514958 | C | A | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01106.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0128a0002c0002t0130 | a0002c0002t0003g0227 a0002c0002t0003g0244 a0002c0002t0003g0245 others(5): Show |
8 | 298 | 0.0269 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69515150 | T | C | intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0059 | a0002c0002t0059g0032 | 1 | 298 | 0.0034 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69515352 | T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(129): Show | a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0221 others(225): Show |
228 | 298 | 0.7651 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69515436 | C | T | intron_variant | MODIFIER | HG02280.hp2 HG02809.hp2 HG02896.hp1 others(6): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0105a0001c0007t0021a0001c0007t0034others(5): Show | a0001c0001t0105g0108 a0001c0007t0021g0276 a0001c0007t0021g0279 others(6): Show |
9 | 298 | 0.0302 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69515457 | C | G | intron_variant | MODIFIER | HG02572.hp1 HG03098.hp2 HG03486.hp2 others(1): Show |
a0002 | a0002c0005 | a0002c0005t0040a0002c0005t0122a0002c0005t0123others(1): Show | a0002c0005t0040g0006 a0002c0005t0122g0182 a0002c0005t0123g0183 others(1): Show |
4 | 298 | 0.0134 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69515541 | G | A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0052 | 1 | 298 | 0.0034 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69515580 | C | T | intron_variant | MODIFIER | HG02965.hp2 | a0004 | a0004c0013 | a0004c0013t0107 | a0004c0013t0107g0107 | 1 | 298 | 0.0034 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69515592 | A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(246): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(22): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(146): Show | a0001c0001t0002g0114 a0001c0001t0002g0120 a0001c0001t0004g0206 others(246): Show |
249 | 298 | 0.8356 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69515729 | C | T | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0081 | 1 | 298 | 0.0034 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69515739 | T | C | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0063 | 1 | 298 | 0.0034 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69515750 | G | A | intron_variant | MODIFIER | HG02280.hp2 HG02809.hp2 HG02896.hp1 others(6): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0105a0001c0007t0021a0001c0007t0034others(5): Show | a0001c0001t0105g0108 a0001c0007t0021g0276 a0001c0007t0021g0279 others(6): Show |
9 | 298 | 0.0302 | 0 | c.149 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69515792 | T | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01243.hp1 others(53): Show |
a0001a0009a0010 | a0001c0001a0009c0026a0010c0027 | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(22): Show | a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0221 others(53): Show |
56 | 298 | 0.1879 | 0 | c.149 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69515857 | C | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(39): Show |
a0001a0005a0006 | a0001c0003a0001c0004a0001c0008others(2): Show | a0001c0003t0012a0001c0003t0022a0001c0003t0026others(27): Show | a0001c0003t0012g0088 a0001c0003t0012g0091 a0001c0003t0012g0095 others(39): Show |
42 | 298 | 0.1409 | 0 | c.149 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69515939 | T | C | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0004 | a0001c0004t0153 | a0001c0004t0153g0296 | 1 | 298 | 0.0034 | 0 | c.149 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69516134 | T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(129): Show | a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0221 others(225): Show |
228 | 298 | 0.7651 | 0 | c.149 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69516153 | T | C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0004 | a0001c0004t0067 | a0001c0004t0067g0077 | 1 | 298 | 0.0034 | 0 | c.149 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69516262 | C | T | intron_variant | MODIFIER | HG02056.hp1 HG02135.hp1 HG02165.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0008a0001c0001t0009a0001c0001t0032others(1): Show | a0001c0001t0008g0082 a0001c0001t0009g0124 a0001c0001t0009g0129 others(2): Show |
5 | 298 | 0.0168 | 0 | c.149 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69516328 | C | A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0006 | a0001c0006t0016 | a0001c0006t0016g0061 | 1 | 298 | 0.0034 | 0 | c.149 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69516390 | T | C | intron_variant | MODIFIER | HG00323.hp2 HG02145.hp1 HG03710.hp1 |
a0002 | a0002c0002a0002c0024 | a0002c0002t0015a0002c0002t0049a0002c0024t0060 | a0002c0002t0015g0003 a0002c0002t0049g0047 a0002c0024t0060g0031 |
3 | 298 | 0.0101 | 0 | c.149 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69516446 | G | C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0104 | a0001c0001t0104g0292 | 1 | 298 | 0.0034 | 0 | c.149 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69517001 | T | C | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0090 | 1 | 298 | 0.0034 | 0 | c.149 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69517096 | T | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01243.hp1 others(58): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0008a0002c0025others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(27): Show | a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0221 others(58): Show |
61 | 298 | 0.2047 | 0 | c.149 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69517449 | C | T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0088 | 1 | 298 | 0.0034 | 0 | c.149 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69517495 | C | T | intron_variant | MODIFIER | HG01243.hp1 NA18906.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0059 a0001c0001t0014g0060 a0001c0001t0014g0066 |
3 | 298 | 0.0101 | 0 | c.149 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69517668 | C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(123): Show | a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0221 others(216): Show |
219 | 298 | 0.7349 | 0 | c.149 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69517882 | T | G | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0055 | 1 | 298 | 0.0034 | 0 | c.149 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69517963 | C | T | intron_variant | MODIFIER | HG00544.hp2 HG02080.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0029 a0002c0002t0001g0034 |
2 | 298 | 0.0067 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69518000 | T | C | intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0005 | a0002c0005t0100 | a0002c0005t0100g0116 | 1 | 298 | 0.0034 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69518031 | A | G | intron_variant | MODIFIER | HG02572.hp2 HG02965.hp2 |
a0004 | a0004c0013 | a0004c0013t0043a0004c0013t0107 | a0004c0013t0043g0284 a0004c0013t0107g0107 |
2 | 298 | 0.0067 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69518105 | G | C | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0003 | a0001c0003t0106 | a0001c0003t0106g0141 | 1 | 298 | 0.0034 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69518136 | T | C | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0113 | a0001c0001t0113g0178 | 1 | 298 | 0.0034 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69518177 | T | C | intron_variant | MODIFIER | HG01891.hp2 HG03225.hp1 |
a0003 | a0003c0014 | a0003c0014t0025 | a0003c0014t0025g0285 a0003c0014t0025g0286 |
2 | 298 | 0.0067 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69518213 | T | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(101): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(60): Show | a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0221 others(101): Show |
104 | 298 | 0.3490 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69518258 | C | T | intron_variant | MODIFIER | NA18967.hp2 NA19063.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0034 | a0001c0001t0002g0149 a0001c0001t0002g0154 a0001c0001t0034g0267 |
3 | 298 | 0.0101 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69518278 | A | G | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0113 | a0001c0001t0113g0178 | 1 | 298 | 0.0034 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69518357 | G | A | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0113 | a0001c0001t0113g0178 | 1 | 298 | 0.0034 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69518383 | A | G | intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0002 | a0002c0002t0145 | a0002c0002t0145g0275 | 1 | 298 | 0.0034 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69518420 | T | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(241): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0003a0001c0006others(15): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(135): Show | a0001c0001t0002g0114 a0001c0001t0002g0120 a0001c0001t0002g0125 others(241): Show |
244 | 298 | 0.8188 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69518427 | T | G | intron_variant | MODIFIER | HG01433.hp1 HG01891.hp2 HG01928.hp2 others(1): Show |
a0003 | a0003c0014a0003c0020a0003c0021 | a0003c0014t0025a0003c0020t0084a0003c0021t0151 | a0003c0014t0025g0285 a0003c0014t0025g0286 a0003c0020t0084g0105 others(1): Show |
4 | 298 | 0.0134 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69518449 | T | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(98): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(60): Show | a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0221 others(98): Show |
101 | 298 | 0.3389 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69518481 | A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(220): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(127): Show | a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0221 others(220): Show |
223 | 298 | 0.7483 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69518659 | C | A | intron_variant | MODIFIER | HG02572.hp1 HG03098.hp2 HG03486.hp2 others(1): Show |
a0002 | a0002c0005 | a0002c0005t0040a0002c0005t0122a0002c0005t0123others(1): Show | a0002c0005t0040g0006 a0002c0005t0122g0182 a0002c0005t0123g0183 others(1): Show |
4 | 298 | 0.0134 | 0 | c.149 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69519010 | C | G | missense_variant | MODERATE | HG01433.hp1 HG01891.hp2 HG01928.hp2 others(5): Show |
a0003a0004 | a0003c0014a0003c0020a0003c0021others(2): Show | a0003c0014t0025a0003c0020t0084a0003c0021t0151others(4): Show | a0003c0014t0025g0285 a0003c0014t0025g0286 a0003c0020t0084g0105 others(5): Show |
8 | 298 | 0.0269 | 0 | c.144 others(4): Show |
p.Ala others(6): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/22 | 1840/21157 | 1441/2886 | 481/961 | chr2 | TogoVar | |||
AAK1_chr2_69452997_69648739 | 69519164 | C | T | synonymous_variant | LOW | HG00099.hp2 HG00323.hp1 HG01175.hp2 others(33): Show |
a0001a0002a0006 | a0001c0003a0001c0004a0002c0019others(1): Show | a0001c0003t0012a0001c0003t0022a0001c0003t0026others(23): Show | a0001c0003t0012g0088 a0001c0003t0012g0091 a0001c0003t0012g0095 others(33): Show |
36 | 298 | 0.1208 | 0 | c.128 others(4): Show |
p.Pro others(6): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/22 | 1686/21157 | 1287/2886 | 429/961 | chr2 | TogoVar | |||
AAK1_chr2_69452997_69648739 | 69519358 | T | C | intron_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0159 | 1 | 298 | 0.0034 | 0 | c.121 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 11/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69519389 | T | A | intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0002 | 1 | 298 | 0.0034 | 0 | c.121 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 11/21 | chr2 | TogoVar |