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 | 69504397 | CAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp2 others(51): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(23): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(51): Show | 54 | 298 | 0.1812 | -2 | c.226 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 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 | c.226 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69505135 | CCA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0004a0001c0006others(13): Show | a0001c0003t0012a0001c0003t0022a0001c0003t0026others(83): Show | a0001c0003t0012g0088a0001c0003t0012g0091a0001c0003t0012g0095others(145): Show | 148 | 298 | 0.4966 | -2 | c.226 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69524863 | CTT | C | intron_variant | MODIFIER | HG02109.hp1 HG02572.hp2 HG02965.hp2 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0045a0004c0013t0043a0004c0013t0107 | a0001c0001t0045g0287a0004c0013t0043g0284a0004c0013t0107g0107 | 3 | 298 | 0.0101 | -2 | c.105 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69548552 | CTT | C | intron_variant | MODIFIER | HG02451.hp1 HG02602.hp1 HG02622.hp2 others(14): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0012a0001c0003t0022a0001c0003t0026others(9): Show | a0001c0003t0012g0088a0001c0003t0012g0095a0001c0003t0012g0096others(14): Show | 17 | 298 | 0.0571 | -2 | c.283 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69553437 | GTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(82): Show | a0001c0001t0004g0216a0001c0001t0004g0221a0001c0001t0004g0233others(145): Show | 148 | 298 | 0.4966 | -2 | c.282 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69557301 | CTT | C | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(4): Show |
a0001a0003a0004 | a0001c0006a0003c0020a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(3): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(4): Show | 7 | 298 | 0.0235 | -2 | c.164 others(17): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69559262 | TCA | T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG01361.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0002a0001c0001t0092a0001c0001t0105others(10): Show | a0001c0001t0002g0132a0001c0001t0092g0164a0001c0001t0105g0108others(10): Show | 13 | 298 | 0.0436 | -2 | c.164 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69559298 | ACT | A | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01934.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0063a0001c0006t0016a0002c0002t0001others(2): Show | a0001c0001t0063g0288a0001c0006t0016g0017a0001c0006t0016g0289others(4): Show | 7 | 298 | 0.0235 | -2 | c.164 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69572620 | TAA | T | intron_variant | MODIFIER | HG02698.hp1 HG02809.hp2 HG02896.hp1 others(5): Show |
a0001a0002 | a0001c0003a0001c0007a0002c0002 | a0001c0003t0081a0001c0007t0021a0001c0007t0034others(3): Show | a0001c0003t0081g0080a0001c0007t0021g0276a0001c0007t0021g0279others(5): Show | 8 | 298 | 0.0269 | -2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69574377 | CAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01167.hp1 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0007a0001c0001t0078a0001c0004t0017others(7): Show | a0001c0001t0007g0027a0001c0001t0007g0049a0001c0001t0078g0055others(10): Show | 13 | 298 | 0.0436 | -2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69587330 | CAT | C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02809.hp2 others(9): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0014a0001c0001t0021a0001c0006t0041others(8): Show | a0001c0001t0014g0059a0001c0001t0021g0278a0001c0006t0041g0008others(9): Show | 12 | 298 | 0.0403 | -2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69587382 | TAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(219): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(129): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(219): Show | 222 | 298 | 0.7450 | -2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69587461 | GTA | G | intron_variant | MODIFIER | HG00735.hp2 HG01884.hp2 NA18906.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006a0001c0009 | a0001c0001t0014a0001c0006t0016a0001c0006t0041others(2): Show | a0001c0001t0014g0059a0001c0006t0016g0289a0001c0006t0041g0008others(2): Show | 5 | 298 | 0.0168 | -2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69589325 | CAG | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01257.hp1 others(60): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(31): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(60): Show | 63 | 298 | 0.2114 | -2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69597707 | CAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00735.hp2 others(79): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(48): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(79): Show | 82 | 298 | 0.2752 | -2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69599944 | ATT | A | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01257.hp1 others(59): Show |
a0001a0002a0009 | a0001c0001a0001c0004a0001c0008others(5): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(31): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(59): Show | 62 | 298 | 0.2081 | -2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69607046 | CAA | C | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02559.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0005 | a0001c0001t0007a0001c0001t0014a0001c0001t0073others(3): Show | a0001c0001t0007g0065a0001c0001t0014g0060a0001c0001t0014g0066others(6): Show | 9 | 298 | 0.0302 | -2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69610050 | CAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01257.hp1 others(57): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(28): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(57): Show | 60 | 298 | 0.2013 | -2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69633599 | CAA | C | intron_variant | MODIFIER | HG01258.hp1 HG01884.hp2 HG01952.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0001t0006a0001c0006t0041others(1): Show | a0001c0001t0004g0206a0001c0001t0004g0259a0001c0001t0004g0261others(4): Show | 7 | 298 | 0.0235 | -2 | c.163 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69634825 | GTA | G | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02109.hp1 others(8): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0001c0011others(2): Show | a0001c0001t0045a0001c0001t0057a0001c0001t0063others(6): Show | a0001c0001t0045g0287a0001c0001t0057g0291a0001c0001t0063g0288others(8): Show | 11 | 298 | 0.0369 | -2 | c.163 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69640014 | AAC | A | intron_variant | MODIFIER | HG01192.hp2 HG01255.hp2 HG02451.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0007a0001c0001t0014a0001c0001t0073others(6): Show | a0001c0001t0007g0065a0001c0001t0014g0066a0001c0001t0073g0052others(8): Show | 11 | 298 | 0.0369 | -2 | c.163 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69644165 | TCC | T | upstream_gene_variant | MODIFIER | HG01433.hp2 HG01884.hp2 HG01978.hp1 others(20): Show |
a0001a0002a0010 | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0014others(15): Show | a0001c0001t0007g0065a0001c0001t0008g0012a0001c0001t0008g0022others(20): Show | 23 | 298 | 0.0772 | -2 | c.-82 others(11): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 427 | chr2 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77830987 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(106): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(104): Show | 109 | 382 | 0.2853 | -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 | 77831309 | CAT | C | intron_variant | MODIFIER | HG02615.hp2 HG03130.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292a0001c0001t0001g0342a0001c0001t0001g0343 | 3 | 382 | 0.0079 | -2 | 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 | 77832951 | ATG | A | intron_variant | MODIFIER | HG01074.hp2 HG01261.hp1 HG02040.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0110a0001c0001t0001g0111a0001c0001t0001g0213others(10): Show | 13 | 382 | 0.0340 | -2 | c.-18 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77840097 | AAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(292): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(286): Show | 295 | 382 | 0.7723 | -2 | c.-18 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77847172 | ACT | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02280.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019a0001c0002t0001g0020a0001c0002t0001g0021 | 3 | 382 | 0.0079 | -2 | c.132 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77853993 | CTT | C | intron_variant | MODIFIER | HG01496.hp2 HG02647.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0109a0001c0002t0002g0207a0001c0002t0002g0350others(3): Show | 6 | 382 | 0.0157 | -2 | 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 | 77858194 | ATT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(109): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0001 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(107): Show | 112 | 382 | 0.2932 | -2 | c.133 others(21): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77870329 | ATT | A | intron_variant | MODIFIER | HG01109.hp2 HG01168.hp2 HG01884.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0009a0001c0002t0001g0020a0001c0002t0001g0021others(6): Show | 9 | 382 | 0.0236 | -2 | c.228 others(17): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMP_chr2_218259129_218275137 | 218268694 | CTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0052 | 9 | 400 | 0.0225 | -2 | c.274 others(17): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 2/10 | chr2 | TogoVar | ||||||
AAMP_chr2_218259129_218275137 | 218272165 | TAA | T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(135): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0001 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0011others(12): Show | 138 | 400 | 0.3450 | -2 | c.-20 others(13): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 2029 | chr2 | TogoVar | ||||||
AAMP_chr2_218259129_218275137 | 218273446 | GTT | G | upstream_gene_variant | MODIFIER | HG01891.hp1 HG01975.hp2 HG02055.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0003g0030 | 24 | 400 | 0.0600 | -2 | c.-33 others(13): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 3310 | chr2 | TogoVar | ||||||
AAMP_chr2_218259129_218275137 | 218273647 | ATT | A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(135): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0001 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0011others(12): Show | 138 | 400 | 0.3450 | -2 | c.-35 others(13): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 3511 | chr2 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36232816 | CCT | C | upstream_gene_variant | MODIFIER | HG01361.hp1 HG02109.hp2 HG02683.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0007a0001c0001t0001g0016a0001c0001t0001g0079others(4): Show | 7 | 298 | 0.0235 | -2 | c.-37 others(13): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3661 | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36242143 | CTT | C | intron_variant | MODIFIER | HG01346.hp2 HG01884.hp1 HG02559.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0004 | a0001c0001t0001g0080a0001c0001t0001g0144a0001c0002t0002g0129others(5): Show | 10 | 298 | 0.0336 | -2 | c.757 others(19): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
AAR2_chr20_36231478_36261933 | 36244679 | CCT | C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp1 others(69): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0006a0003c0009others(1): Show | a0001c0001t0001a0002c0006t0001a0003c0009t0010others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0012others(45): Show | 72 | 298 | 0.2416 | -2 | c.758 others(15): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
AAR2_chr20_36231478_36261933 | 36258142 | TAC | T | downstream_gene_variant | MODIFIER | HG00544.hp2 HG01884.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0004 | a0001c0001t0001g0001a0001c0001t0001g0112a0001c0001t0001g0141others(4): Show | 9 | 298 | 0.0302 | -2 | c.*23 others(13): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1210 | chr20 | TogoVar | ||||||
AARD_chr8_116933207_116949487 | 116934791 | CAT | C | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG02027.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0003a0001c0001t0006g0003 | 11 | 442 | 0.0249 | -2 | c.-34 others(13): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 3415 | chr8 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70249011 | CTG | C | downstream_gene_variant | MODIFIER | NA18960.hp1 NA18975.hp2 NA18999.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0022others(1): Show | 4 | 362 | 0.0111 | -2 | c.*37 others(13): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 3286 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70250666 | CAA | C | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01169.hp1 HG01943.hp1 others(5): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0016others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0016t0001others(1): Show | a0001c0001t0001g0060a0001c0001t0001g0067a0001c0001t0001g0098others(5): Show | 8 | 362 | 0.0221 | -2 | c.*20 others(13): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1631 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70253037 | CTT | C | intron_variant | MODIFIER | HG02055.hp2 HG03139.hp2 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0322a0001c0002t0003g0323a0001c0002t0003g0324 | 3 | 362 | 0.0083 | -2 | c.272 others(19): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 20/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70255526 | CAT | C | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02647.hp2 others(7): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0349a0002c0004t0001g0350a0002c0004t0001g0351others(7): Show | 10 | 362 | 0.0276 | -2 | c.228 others(19): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 16/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70258895 | CAG | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(86): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0038others(86): Show | 89 | 362 | 0.2459 | -2 | c.199 others(17): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 14/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70269915 | TAG | T | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | -2 | c.817 others(17): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 6/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70272506 | CAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(46): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0004a0005c0009others(1): Show | a0001c0001t0001a0002c0004t0001a0005c0009t0001others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0013others(46): Show | 49 | 362 | 0.1354 | -2 | c.480 others(17): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70272889 | GAC | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01070.hp2 others(31): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0154a0001c0002t0001g0155others(30): Show | 34 | 362 | 0.0939 | -2 | c.480 others(17): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70275250 | ACT | A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | -2 | c.479 others(19): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70279350 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp2 others(32): Show |
a0001a0008a0011 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(2): Show | a0001c0001t0001g0112a0001c0002t0001g0165a0001c0002t0001g0184others(32): Show | 35 | 362 | 0.0967 | -2 | c.145 others(19): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | chr16 | TogoVar |