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 | 69458707 | G | GCACA | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG01074.hp2 others(20): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0056a0001c0004t0010a0001c0004t0017others(13): Show | a0001c0001t0056g0058a0001c0004t0010g0127a0001c0004t0010g0148others(20): Show | 23 | 298 | 0.0772 | 4 | c.*17 others(17): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 17161 | chr2 | TogoVar | |||||
AAK1_chr2_69452997_69648739 | 69488149 | C | CGTGT | intron_variant | MODIFIER | HG01167.hp2 HG01891.hp1 HG02572.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0027a0002c0002t0001a0002c0005t0040others(4): Show | a0001c0001t0027g0128a0001c0001t0027g0145a0002c0002t0001g0019others(5): Show | 8 | 298 | 0.0269 | 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 | a0001c0011t0029a0001c0011t0079a0002c0002t0001others(2): Show | a0001c0011t0029g0293a0001c0011t0029g0294a0001c0011t0079g0290others(3): Show | 6 | 298 | 0.0201 | 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 | a0001c0001t0013a0002c0002t0003a0002c0002t0005others(9): Show | a0001c0001t0013g0151a0002c0002t0003g0199a0002c0002t0003g0203others(29): Show | 32 | 298 | 0.1074 | 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 | a0001c0001t0004a0001c0001t0006a0001c0001t0076others(2): Show | a0001c0001t0004g0261a0001c0001t0006g0204a0001c0001t0006g0223others(3): Show | 6 | 298 | 0.0201 | 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 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0002g0149a0001c0001t0008g0082a0001c0001t0009g0129others(1): Show | 4 | 298 | 0.0134 | 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 | a0001c0003t0082a0001c0003t0109a0001c0004t0146others(3): Show | a0001c0003t0082g0098a0001c0003t0109g0166a0001c0004t0146g0273others(4): Show | 7 | 298 | 0.0235 | 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 | a0001c0001t0002a0001c0001t0009a0001c0001t0027others(4): Show | a0001c0001t0002g0154a0001c0001t0009g0139a0001c0001t0027g0145others(4): Show | 7 | 298 | 0.0235 | 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 | a0001c0004t0017a0001c0006t0016a0001c0008t0069others(1): Show | a0001c0004t0017g0075a0001c0006t0016g0017a0001c0006t0016g0061others(3): Show | 6 | 298 | 0.0201 | 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 | a0001c0001t0014a0001c0001t0021a0001c0001t0078others(10): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(13): Show | 16 | 298 | 0.0537 | 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 | a0001c0001t0008a0001c0001t0089a0001c0001t0112 | a0001c0001t0008g0069a0001c0001t0089g0122a0001c0001t0112g0170 | 3 | 298 | 0.0101 | 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 | a0001c0001t0045a0001c0001t0057a0004c0013t0043 | a0001c0001t0045g0287a0001c0001t0057g0291a0004c0013t0043g0284 | 3 | 298 | 0.0101 | 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 | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(5): Show | a0001c0001t0004g0258a0001c0001t0006g0204a0001c0001t0011g0201others(5): Show | 8 | 298 | 0.0269 | 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 | a0001c0001t0004a0001c0001t0008a0001c0001t0137others(10): Show | a0001c0001t0004g0233a0001c0001t0008g0012a0001c0001t0008g0013others(23): Show | 26 | 298 | 0.0873 | 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 |
a0001a0002a0006 | a0001c0001a0001c0006a0001c0009others(2): Show | a0001c0001t0008a0001c0001t0014a0001c0006t0016others(7): Show | a0001c0001t0008g0022a0001c0001t0014g0059a0001c0006t0016g0289others(7): Show | 10 | 298 | 0.0336 | 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 | a0001c0001t0014a0001c0001t0077a0001c0004t0017others(1): Show | a0001c0001t0014g0059a0001c0001t0077g0072a0001c0004t0017g0075others(1): Show | 4 | 298 | 0.0134 | 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 |
a0001a0002a0009 | a0001c0001a0001c0006a0001c0008others(3): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0119others(13): Show | a0001c0001t0004g0206a0001c0001t0004g0233a0001c0001t0004g0254others(29): Show | 32 | 298 | 0.1074 | 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(90): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(58): Show | a0001c0001t0004g0254a0001c0001t0006g0213a0001c0001t0007g0027others(90): Show | 93 | 298 | 0.3121 | 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 | a0001c0002t0002g0243a0001c0002t0002g0244a0001c0002t0002g0245others(8): Show | 11 | 382 | 0.0288 | 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 | a0001c0002t0001g0022a0001c0002t0001g0023a0001c0002t0001g0024 | 3 | 382 | 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 | a0001c0001t0001g0099a0001c0001t0001g0107a0001c0001t0001g0108others(9): Show | 12 | 382 | 0.0314 | 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 | a0001c0002t0001g0020a0001c0002t0002g0007a0001c0002t0002g0219others(35): Show | 39 | 382 | 0.1021 | 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 | a0001c0001t0001g0001a0001c0001t0001g0002 | 17 | 426 | 0.0399 | 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 |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(21): Show | 28 | 298 | 0.0940 | 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 | a0001c0002t0002g0005a0001c0002t0002g0031a0001c0002t0002g0088others(10): Show | 20 | 298 | 0.0671 | 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(72): Show | 103 | 298 | 0.3456 | 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 | 442 | 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 | 442 | 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 | a0001c0001t0010g0003a0002c0002t0010g0016 | 4 | 442 | 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 | a0001c0001t0001g0064a0001c0001t0001g0066a0001c0001t0001g0077others(12): Show | 15 | 362 | 0.0414 | 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(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0040a0001c0001t0001g0044a0001c0001t0001g0100others(14): Show | 17 | 362 | 0.0470 | 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 | a0001c0002t0003g0322a0001c0002t0003g0323a0001c0002t0003g0324 | 3 | 362 | 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(354): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0011others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(78): Show | 357 | 396 | 0.9015 | 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 |
a0001a0006 | a0001c0001a0001c0002a0006c0008 | a0001c0001t0001a0001c0001t0005a0001c0002t0003others(1): Show | a0001c0001t0001g0022a0001c0001t0001g0024a0001c0001t0005g0004others(2): Show | 9 | 396 | 0.0227 | 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(191): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0001c0010others(5): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(78): Show | 194 | 324 | 0.5988 | 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(12): Show | 21 | 324 | 0.0648 | 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 | a0001c0001t0001g0011a0001c0001t0001g0020 | 3 | 324 | 0.0093 | 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 | a0001c0001t0001g0003a0001c0001t0001g0032a0001c0001t0001g0036 | 4 | 324 | 0.0124 | 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 | a0001c0001t0001g0003a0001c0001t0001g0032a0001c0001t0001g0036 | 4 | 324 | 0.0124 | 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 | a0001c0001t0001g0003a0001c0001t0001g0032a0001c0001t0001g0036 | 4 | 324 | 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 | a0001c0001t0001g0003a0001c0001t0001g0032a0001c0001t0001g0036 | 4 | 324 | 0.0124 | 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 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0011others(5): Show | 10 | 324 | 0.0309 | 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 |
a0001a0004a0008 | a0001c0001a0004c0005a0008c0007 | a0001c0001t0001a0004c0005t0001a0008c0007t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0010others(30): Show | 64 | 324 | 0.1975 | 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 | a0001c0001t0001g0003a0001c0001t0001g0032a0001c0001t0001g0036others(1): Show | 5 | 324 | 0.0154 | 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 | a0001c0001t0001g0032a0001c0001t0001g0036 | 3 | 324 | 0.0093 | 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 |
a0001a0004a0008 | a0001c0001a0004c0005a0008c0007 | a0001c0001t0001a0004c0005t0001a0008c0007t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0007others(35): Show | 70 | 324 | 0.2161 | 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 |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0001a0008c0007t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0010others(33): Show | 75 | 324 | 0.2315 | 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 | a0001c0001t0003g0013a0001c0001t0014g0013 | 5 | 404 | 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 | a0001c0001t0015g0103a0001c0001t0015g0105a0001c0001t0016g0104 | 3 | 404 | 0.0074 | 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 |
a0004a0009a0017 | a0004c0004a0004c0025a0009c0012others(1): Show | a0004c0004t0001a0004c0004t0006a0004c0025t0001others(2): Show | a0004c0004t0001g0005a0004c0004t0001g0008a0004c0004t0001g0020others(46): Show | 57 | 382 | 0.1492 | 4 | c.*65 others(13): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 546 | chr4 | TogoVar |