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 | 69488149 | C | CGTGT | intron_variant | MODIFIER | HG01167.hp2 HG01891.hp1 HG02572.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0027a0002c0002t0003a0002c0005t0036others(4): Show | a0001c0001t0027g0126 a0001c0001t0027g0144 a0002c0002t0003g0019 others(5): Show |
8 | 102 | 0.0784 | 4 | c.236 others(23): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69490923 | C | CCACA | intron_variant | MODIFIER | HG02056.hp2 HG02486.hp1 HG02559.hp1 others(3): Show |
a0001a0002 | a0001c0011a0002c0002 | a0001c0011t0029a0001c0011t0075a0002c0002t0003others(2): Show | a0001c0011t0029g0292 a0001c0011t0029g0293 a0001c0011t0075g0285 others(3): Show |
6 | 130 | 0.0462 | 4 | c.236 others(23): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69493158 | C | CAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG00738.hp1 others(29): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0019others(1): Show | a0001c0001t0011a0002c0002t0004a0002c0002t0006others(9): Show | a0001c0001t0011g0151 a0002c0002t0004g0193 a0002c0002t0004g0224 others(29): Show |
32 | 101 | 0.3168 | 4 | c.236 others(23): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69496273 | G | GTTTT | intron_variant | MODIFIER | HG01358.hp2 HG01978.hp2 HG02738.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0072others(2): Show | a0001c0001t0005g0261 a0001c0001t0007g0194 a0001c0001t0007g0220 others(3): Show |
6 | 208 | 0.0288 | 4 | c.227 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69500664 | A | AATAT | intron_variant | MODIFIER | HG02135.hp1 HG03540.hp2 NA18948.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0017 | a0001c0001t0001g0127 a0001c0001t0001g0148 a0001c0001t0002g0082 others(1): Show |
4 | 180 | 0.0222 | 4 | c.227 others(23): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69500698 | T | TACAC | intron_variant | MODIFIER | HG02809.hp2 HG02896.hp1 HG03491.hp1 others(4): Show |
a0001 | a0001c0003a0001c0004a0001c0007 | a0001c0003t0077a0001c0003t0104a0001c0004t0141others(2): Show | a0001c0003t0077g0099 a0001c0003t0104g0168 a0001c0004t0141g0274 others(4): Show |
7 | 102 | 0.0686 | 4 | c.227 others(23): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69500698 | T | TATAC | intron_variant | MODIFIER | HG00558.hp1 HG01891.hp1 HG01952.hp2 others(4): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0027others(3): Show | a0001c0001t0001g0137 a0001c0001t0001g0154 a0001c0001t0013g0172 others(4): Show |
7 | 102 | 0.0686 | 4 | c.227 others(23): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69506868 | C | CTGTG | intron_variant | MODIFIER | HG00735.hp2 HG01928.hp2 HG02630.hp1 others(3): Show |
a0001a0003 | a0001c0004a0001c0006a0001c0008others(1): Show | a0001c0004t0017a0001c0006t0016a0001c0008t0065others(1): Show | a0001c0004t0017g0066 a0001c0006t0016g0017 a0001c0006t0016g0063 others(3): Show |
6 | 69 | 0.0870 | 4 | c.216 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 15/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69553437 | G | GTTTT | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02109.hp2 others(13): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0012a0001c0001t0021a0001c0001t0074others(9): Show | a0001c0001t0012g0059 a0001c0001t0012g0073 a0001c0001t0012g0079 others(13): Show |
16 | 75 | 0.2133 | 4 | c.282 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69559262 | T | TCACA | intron_variant | MODIFIER | NA18993.hp1 NA18994.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0084a0001c0001t0107 | a0001c0001t0002g0061 a0001c0001t0084g0119 a0001c0001t0107g0170 |
3 | 260 | 0.0115 | 4 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69587461 | G | GTATA | intron_variant | MODIFIER | HG02109.hp1 HG02572.hp2 HG03209.hp2 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0041a0001c0001t0054a0004c0013t0039 | a0001c0001t0041g0287 a0001c0001t0054g0289 a0004c0013t0039g0284 |
3 | 291 | 0.0103 | 4 | c.164 others(23): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69626663 | C | CTTTT | intron_variant | MODIFIER | HG01978.hp2 HG02559.hp2 HG02895.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(5): Show | a0001c0001t0005g0258 a0001c0001t0007g0194 a0001c0001t0010g0253 others(5): Show |
8 | 194 | 0.0412 | 4 | c.163 others(23): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69640014 | A | AACAC | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp1 HG01106.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0132others(10): Show | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0005g0231 others(23): Show |
26 | 210 | 0.1238 | 4 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69640053 | A | ACTCT | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp2 HG01074.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0012a0001c0006t0016others(7): Show | a0001c0001t0002g0023 a0001c0001t0012g0059 a0001c0006t0016g0286 others(7): Show |
10 | 193 | 0.0518 | 4 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69644165 | T | TTCCC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG03139.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0012a0001c0001t0073a0001c0004t0017others(1): Show | a0001c0001t0012g0059 a0001c0001t0073g0070 a0001c0004t0017g0066 others(1): Show |
4 | 32 | 0.1250 | 4 | c.-82 others(13): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 427 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69644165 | T | TTCGC | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01257.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0008others(3): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0114others(13): Show | a0001c0001t0005g0197 a0001c0001t0005g0231 a0001c0001t0005g0254 others(29): Show |
32 | 60 | 0.5333 | 4 | c.-82 others(13): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 427 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69647388 | T | TTTTA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(89): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(54): Show | a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0051 others(89): Show |
92 | 165 | 0.5576 | 4 | c.-40 others(15): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3650 | chr2 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77830987 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01109.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 others(8): Show |
11 | 102 | 0.1078 | 4 | c.-19 others(21): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77837891 | A | AAAAT | intron_variant | MODIFIER | HG01074.hp2 HG02630.hp2 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 |
3 | 380 | 0.0079 | 4 | c.-18 others(21): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77852224 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01496.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0111 others(9): Show |
12 | 15 | 0.8000 | 4 | c.132 others(21): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77858302 | C | CTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00673.hp2 others(36): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0025 a0001c0002t0002g0010 a0001c0002t0002g0217 others(35): Show |
39 | 235 | 0.1660 | 4 | c.133 others(23): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AANAT_chr17_76462603_76475117 | 76463309 | C | CTTTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG01361.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
17 | 32 | 0.5313 | 4 | c.-44 others(15): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 4293 | chr17 | TogoVar | |||||||
AAR2_chr20_36231478_36261933 | 36232816 | C | CCTCT | upstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01167.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0009 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(19): Show |
28 | 175 | 0.1600 | 4 | c.-37 others(15): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3661 | chr20 | TogoVar | |||||||
AAR2_chr20_36231478_36261933 | 36241024 | A | AGCAG | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01169.hp1 others(17): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007 a0001c0002t0002g0032 a0001c0002t0002g0079 others(10): Show |
20 | 296 | 0.0676 | 4 | c.757 others(19): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 2/3 | chr20 | TogoVar | |||||||
AAR2_chr20_36231478_36261933 | 36258142 | T | TACAC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(100): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(67): Show |
103 | 136 | 0.7574 | 4 | c.*23 others(15): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1210 | chr20 | TogoVar | |||||||
AARD_chr8_116933207_116949487 | 116934743 | G | GAATA | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02647.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 3 | 440 | 0.0068 | 4 | c.-35 others(15): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 3463 | chr8 | TogoVar | |||||||
AARD_chr8_116933207_116949487 | 116934792 | A | ATATG | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02647.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 3 | 440 | 0.0068 | 4 | c.-34 others(15): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 3414 | chr8 | TogoVar | |||||||
AARD_chr8_116933207_116949487 | 116948466 | G | GAGAT | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02922.hp2 HG03130.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0010 | a0001c0001t0010g0003 a0002c0002t0010g0016 |
4 | 440 | 0.0091 | 4 | c.*57 others(15): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 3980 | chr8 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70262967 | C | CAAAA | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp1 HG01975.hp2 others(12): Show |
a0001a0010 | a0001c0001a0010c0014 | a0001c0001t0001a0010c0014t0001 | a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0075 others(12): Show |
15 | 91 | 0.1648 | 4 | c.149 others(21): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70272889 | G | GACAC | intron_variant | MODIFIER | HG00423.hp2 HG01884.hp2 HG02165.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0097 others(13): Show |
16 | 109 | 0.1468 | 4 | c.480 others(19): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70291758 | C | CCGAG | upstream_gene_variant | MODIFIER | HG02055.hp2 HG03139.hp2 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0320 a0001c0002t0003g0321 a0001c0002t0003g0322 |
3 | 360 | 0.0083 | 4 | c.-23 others(15): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2253 | chr16 | TogoVar | |||||||
AARS2_chr6_44293731_44318347 | 44301069 | T | TTGTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0011others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(28): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(77): Show |
356 | 394 | 0.9036 | 4 | c.279 others(19): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 21/21 | chr6 | TogoVar | |||||||
AARS2_chr6_44293731_44318347 | 44313696 | C | CGTGT | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01243.hp2 HG01934.hp2 others(6): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0001a0001c0001t0005a0001c0002t0003others(1): Show | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0005g0004 others(2): Show |
9 | 259 | 0.0347 | 4 | c.-37 others(13): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 350 | chr6 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42956660 | C | CTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(190): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0001c0010others(5): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(78): Show |
193 | 205 | 0.9415 | 4 | c.390 others(19): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4/11 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42965994 | C | CAAAA | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00673.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(12): Show |
21 | 60 | 0.3500 | 4 | c.-15 others(15): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 1541 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967320 | A | AATAT | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01952.hp2 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0020 |
3 | 253 | 0.0119 | 4 | c.-28 others(15): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2867 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967342 | T | TAATA | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01993.hp1 NA18969.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0036 |
4 | 309 | 0.0129 | 4 | c.-29 others(15): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2889 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967355 | A | AATTT | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01993.hp1 NA18969.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0036 |
4 | 240 | 0.0167 | 4 | c.-29 others(15): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2902 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967367 | A | ATTTT | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01993.hp1 NA18969.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0036 |
4 | 322 | 0.0124 | 4 | c.-29 others(15): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2914 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967376 | A | AATTT | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01993.hp1 NA18969.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0036 |
4 | 321 | 0.0125 | 4 | c.-29 others(15): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2923 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967377 | T | TAATA | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01952.hp2 HG02015.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(5): Show |
10 | 316 | 0.0316 | 4 | c.-29 others(15): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2924 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967439 | A | AAAAT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(61): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0007 | a0001c0001t0001a0004c0005t0001a0005c0007t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 others(30): Show |
64 | 264 | 0.2424 | 4 | c.-30 others(15): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2986 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967441 | A | ATTTT | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01993.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0036 others(1): Show |
5 | 196 | 0.0255 | 4 | c.-30 others(15): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2988 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967485 | T | TAATA | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01993.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0036 |
3 | 310 | 0.0097 | 4 | c.-30 others(15): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3032 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967494 | T | TAAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(67): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0007 | a0001c0001t0001a0004c0005t0001a0005c0007t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(35): Show |
70 | 320 | 0.2188 | 4 | c.-30 others(15): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3041 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967515 | A | ATTTT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(72): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 others(33): Show |
75 | 139 | 0.5396 | 4 | c.-30 others(15): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3062 | chr17 | TogoVar | |||||||
AASDHPPT_chr11_106072662_106103695 | 106079426 | G | GTAGA | intron_variant | MODIFIER | NA18957.hp2 NA18965.hp1 NA18973.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0013 a0001c0001t0014g0013 |
5 | 402 | 0.0124 | 4 | c.184 others(17): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AASDHPPT_chr11_106072662_106103695 | 106089993 | G | GGTAA | intron_variant | MODIFIER | HG01081.hp1 HG02258.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016 | a0001c0001t0015g0104 a0001c0001t0015g0106 a0001c0001t0016g0105 |
3 | 402 | 0.0075 | 4 | c.410 others(19): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56337743 | G | GGAGA | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(54): Show |
a0004a0008a0014 | a0004c0004a0004c0025a0008c0012others(1): Show | a0004c0004t0001a0004c0004t0006a0004c0025t0001others(2): Show | a0004c0004t0001g0005 a0004c0004t0001g0008 a0004c0004t0001g0020 others(46): Show |
57 | 380 | 0.1500 | 4 | c.*65 others(13): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 546 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56338310 | C | CTTCT | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(75): Show |
a0003a0009a0012 | a0003c0003a0009c0011a0012c0023 | a0003c0003t0002a0009c0011t0002a0012c0023t0002 | a0003c0003t0002g0003 a0003c0003t0002g0010 a0003c0003t0002g0025 others(67): Show |
78 | 380 | 0.2053 | 4 | c.*88 others(11): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 15/15 | 91 | chr4 | TogoVar |