| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 69640053 | A | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(82): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0014others(52): Show | a0001c0001t0007g0027a0001c0001t0007g0049a0001c0001t0007g0065others(82): Show | 85 | 298 | 0.2852 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69640055 | T | A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(79): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0020others(34): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(79): Show | 82 | 298 | 0.2752 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69640057 | T | A | intron_variant | MODIFIER | HG00735.hp1 HG02040.hp2 HG02083.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0008others(1): Show | a0001c0001t0004a0001c0001t0034a0001c0007t0021others(2): Show | a0001c0001t0004g0264a0001c0001t0004g0265a0001c0001t0004g0266others(5): Show | 8 | 298 | 0.0269 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69640059 | T | A | intron_variant | MODIFIER | HG02083.hp1 NA18954.hp2 NA19005.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0034 | a0001c0001t0004g0264a0001c0001t0004g0265a0001c0001t0004g0266others(2): Show | 5 | 298 | 0.0168 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69640079 | T | C | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0003 | a0001c0003t0046 | a0001c0003t0046g0100 | 1 | 298 | 0.0034 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69640079 | T | TC | intron_variant | MODIFIER | HG02015.hp2 HG02040.hp1 HG02080.hp1 others(14): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0007a0001c0001t0024a0001c0001t0058others(9): Show | a0001c0001t0007g0089a0001c0001t0007g0099a0001c0001t0024g0090others(14): Show | 17 | 298 | 0.0571 | 1 | c.163 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69640081 | C | T | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(112): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(57): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(112): Show | 115 | 298 | 0.3859 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69640302 | TCCA | T | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02109.hp1 others(9): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0001c0011others(3): Show | a0001c0001t0045a0001c0001t0057a0001c0001t0063others(7): Show | a0001c0001t0045g0287a0001c0001t0057g0291a0001c0001t0063g0288others(9): Show | 12 | 298 | 0.0403 | -3 | c.163 others(20): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69640313 | C | T | intron_variant | MODIFIER | HG02257.hp1 HG02922.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0105 | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0105g0108 | 3 | 298 | 0.0101 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69640396 | C | T | intron_variant | MODIFIER | NA18954.hp1 NA18967.hp1 NA18992.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0075a0002c0002t0001a0002c0002t0007others(2): Show | a0001c0001t0075g0020a0002c0002t0001g0019a0002c0002t0007g0018others(2): Show | 5 | 298 | 0.0168 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69640481 | G | A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0058 | 1 | 298 | 0.0034 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69640481 | G | GT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(114): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(59): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(114): Show | 117 | 298 | 0.3926 | 1 | c.163 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69640552 | A | T | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(114): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(59): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(114): Show | 117 | 298 | 0.3926 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69640703 | G | A | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02109.hp1 others(9): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0001c0011others(3): Show | a0001c0001t0045a0001c0001t0057a0001c0001t0063others(7): Show | a0001c0001t0045g0287a0001c0001t0057g0291a0001c0001t0063g0288others(9): Show | 12 | 298 | 0.0403 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69640739 | C | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(197): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(111): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(197): Show | 200 | 298 | 0.6711 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69640844 | C | G | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0082 | 1 | 298 | 0.0034 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69640905 | A | C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0006 | a0001c0006t0016 | a0001c0006t0016g0017 | 1 | 298 | 0.0034 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69640933 | T | G | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0101 | 1 | 298 | 0.0034 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69641146 | T | C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(114): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(59): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(114): Show | 117 | 298 | 0.3926 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69641171 | C | T | intron_variant | MODIFIER | HG02965.hp2 HG03579.hp2 |
a0002a0004 | a0002c0016a0004c0013 | a0002c0016t0103a0004c0013t0107 | a0002c0016t0103g0106a0004c0013t0107g0107 | 2 | 298 | 0.0067 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69641226 | G | A | intron_variant | MODIFIER | HG00408.hp2 HG02015.hp2 HG02040.hp1 others(25): Show |
a0001a0010 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0022others(14): Show | a0001c0001t0007g0086a0001c0001t0007g0089a0001c0001t0007g0099others(25): Show | 28 | 298 | 0.0940 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69641283 | T | C | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0149 | a0001c0001t0149g0280 | 1 | 298 | 0.0034 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69641340 | T | A | intron_variant | MODIFIER | HG02280.hp1 HG02723.hp2 HG02895.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0016 | a0001c0001t0116a0001c0001t0118a0001c0001t0120others(3): Show | a0001c0001t0116g0185a0001c0001t0118g0184a0001c0001t0120g0187others(3): Show | 6 | 298 | 0.0201 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69641394 | C | A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(114): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(59): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(114): Show | 117 | 298 | 0.3926 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69641450 | A | G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0016 | 1 | 298 | 0.0034 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69641477 | C | G | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 |
a0001 | a0001c0003 | a0001c0003t0026 | a0001c0003t0026g0014a0001c0003t0026g0015 | 2 | 298 | 0.0067 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69641583 | A | G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(114): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(59): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(114): Show | 117 | 298 | 0.3926 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69641700 | T | C | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0008 | a0001c0008t0069 | a0001c0008t0069g0102 | 1 | 298 | 0.0034 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69641799 | G | C | intron_variant | MODIFIER | HG02622.hp1 HG03486.hp1 |
a0002 | a0002c0005 | a0002c0005t0018 | a0002c0005t0018g0103a0002c0005t0018g0104 | 2 | 298 | 0.0067 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69641871 | G | T | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0149 | a0001c0001t0149g0280 | 1 | 298 | 0.0034 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69641872 | T | C | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0149 | a0001c0001t0149g0280 | 1 | 298 | 0.0034 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69641873 | C | T | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0149 | a0001c0001t0149g0280 | 1 | 298 | 0.0034 | 0 | c.163 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69641881 | C | T | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(82): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(30): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(82): Show | 85 | 298 | 0.2852 | 0 | c.163 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69642187 | C | A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0117 | a0001c0001t0117g0189 | 1 | 298 | 0.0034 | 0 | c.163 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69642515 | A | C | intron_variant | MODIFIER | HG02257.hp1 HG02922.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0105 | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0105g0108 | 3 | 298 | 0.0101 | 0 | c.163 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69642603 | G | A | intron_variant | MODIFIER | HG03471.hp2 | a0004 | a0004c0012 | a0004c0012t0036 | a0004c0012t0036g0283 | 1 | 298 | 0.0034 | 0 | c.163 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69642658 | C | T | intron_variant | MODIFIER | HG02965.hp2 HG03579.hp2 |
a0002a0004 | a0002c0016a0004c0013 | a0002c0016t0103a0004c0013t0107 | a0002c0016t0103g0106a0004c0013t0107g0107 | 2 | 298 | 0.0067 | 0 | c.163 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69642769 | A | G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(82): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(30): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(82): Show | 85 | 298 | 0.2852 | 0 | c.163 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69643498 | G | A | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02109.hp1 others(9): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0001c0011others(3): Show | a0001c0001t0045a0001c0001t0057a0001c0001t0063others(7): Show | a0001c0001t0045g0287a0001c0001t0057g0291a0001c0001t0063g0288others(9): Show | 12 | 298 | 0.0403 | 0 | c.-23 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 1/21 | chr2 | TogoVar | ||||||
| AAMDC_chr11_77816144_77877352 | 77821260 | C | T | intron_variant | MODIFIER | HG01934.hp1 HG02155.hp1 NA18940.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0364a0001c0001t0001g0365a0001c0001t0001g0366others(6): Show | 9 | 382 | 0.0236 | 0 | c.-19 others(6): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
| AAMDC_chr11_77816144_77877352 | 77821327 | C | G | intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0363 | 1 | 382 | 0.0026 | 0 | c.-19 others(6): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
| AAMDC_chr11_77816144_77877352 | 77821345 | T | G | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 382 | 0.0026 | 0 | c.-19 others(7): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
| AAMDC_chr11_77816144_77877352 | 77821417 | T | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(86): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(84): Show | 89 | 382 | 0.2330 | 0 | c.-19 others(7): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
| AAMDC_chr11_77816144_77877352 | 77821662 | G | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(86): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(84): Show | 89 | 382 | 0.2330 | 0 | c.-19 others(7): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
| AAMDC_chr11_77816144_77877352 | 77821710 | G | A | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 382 | 0.0026 | 0 | c.-19 others(7): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
| AAMDC_chr11_77816144_77877352 | 77821996 | G | A | intron_variant | MODIFIER | HG01934.hp1 HG02155.hp1 NA18940.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0097others(10): Show | 13 | 382 | 0.0340 | 0 | c.-19 others(7): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
| AAMDC_chr11_77816144_77877352 | 77822024 | T | G | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010a0001c0002t0001g0011 | 2 | 382 | 0.0052 | 0 | c.-19 others(7): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
| AAMDC_chr11_77816144_77877352 | 77822414 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(125): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0094others(123): Show | 128 | 382 | 0.3351 | 1 | c.-19 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| AAMDC_chr11_77816144_77877352 | 77822414 | C | CAA | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(76): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0102others(74): Show | 79 | 382 | 0.2068 | 2 | c.-19 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| AAMDC_chr11_77816144_77877352 | 77822414 | C | CAAA | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG02145.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0099a0001c0002t0001g0010a0001c0002t0001g0011others(10): Show | 13 | 382 | 0.0340 | 3 | c.-19 others(20): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |