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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AARS1_chr16_70247298_70294506 | 70289275 | G | A | intron_variant | MODIFIER | HG02647.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332a0001c0001t0001g0333 | 2 | 362 | 0.0055 | 0 | c.-22 others(7): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70289294 | C | T | intron_variant | MODIFIER | HG01496.hp1 HG03017.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004a0001c0003t0001g0005 | 2 | 362 | 0.0055 | 0 | c.-22 others(7): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70289321 | G | A | intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0334 | 1 | 362 | 0.0028 | 0 | c.-22 others(7): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70289377 | C | A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | c.-22 others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70289391 | G | A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | c.-22 others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70289408 | G | C | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0360 | 1 | 362 | 0.0028 | 0 | c.-22 others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70289413 | C | T | splice_region_variant others(1): Show |
LOW | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 362 | 0.0028 | 0 | c.-22 others(5): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44300767 | C | G | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 396 | 0.0025 | 0 | c.279 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 21/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44300854 | C | T | intron_variant | MODIFIER | HG01891.hp1 HG03225.hp1 |
a0008 | a0008c0009 | a0008c0009t0012 | a0008c0009t0012g0033 | 2 | 396 | 0.0051 | 0 | c.279 others(8): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 21/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44300965 | T | G | intron_variant | MODIFIER | HG02922.hp1 | a0011 | a0011c0013 | a0011c0013t0021 | a0011c0013t0021g0078 | 1 | 396 | 0.0025 | 0 | c.279 others(8): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 21/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44301005 | A | G | intron_variant | MODIFIER | HG00621.hp1 NA18964.hp1 NA18974.hp1 others(3): Show |
a0001 | a0001c0002a0001c0018 | a0001c0002t0003a0001c0002t0019a0001c0018t0003 | a0001c0002t0003g0016a0001c0002t0019g0071a0001c0018t0003g0070 | 6 | 396 | 0.0152 | 0 | c.279 others(8): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 21/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44301051 | C | T | intron_variant | MODIFIER | HG02922.hp1 | a0011 | a0011c0013 | a0011c0013t0021 | a0011c0013t0021g0078 | 1 | 396 | 0.0025 | 0 | c.279 others(8): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 21/21 | chr6 | 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 | 44301286 | T | C | 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 | 0 | c.268 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 20/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44301311 | C | G | intron_variant | MODIFIER | HG02145.hp2 HG03453.hp1 HG03579.hp2 others(2): Show |
a0001a0009 | a0001c0002a0009c0015 | a0001c0002t0007a0009c0015t0007 | a0001c0002t0007g0014a0009c0015t0007g0079 | 5 | 396 | 0.0126 | 0 | c.268 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 20/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44301350 | C | G | intron_variant | MODIFIER | HG02145.hp2 HG03453.hp1 HG03579.hp2 others(2): Show |
a0001a0009 | a0001c0002a0009c0015 | a0001c0002t0007a0009c0015t0007 | a0001c0002t0007g0014a0009c0015t0007g0079 | 5 | 396 | 0.0126 | 0 | c.268 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 20/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44301685 | T | C | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG01192.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0010 | a0001c0002t0002g0039a0001c0002t0010g0038 | 4 | 396 | 0.0101 | 0 | c.259 others(8): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 19/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44301767 | A | G | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0017 | a0001c0017t0020 | a0001c0017t0020g0054 | 1 | 396 | 0.0025 | 0 | c.259 others(8): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 19/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44301768 | G | A | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0017 | a0001c0017t0020 | a0001c0017t0020g0054 | 1 | 396 | 0.0025 | 0 | c.259 others(8): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 19/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44301771 | A | G | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0017 | a0001c0017t0020 | a0001c0017t0020g0054 | 1 | 396 | 0.0025 | 0 | c.259 others(8): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 19/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44301833 | C | T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00544.hp1 others(47): Show |
a0001a0006 | a0001c0002a0001c0018a0006c0008 | a0001c0002t0003a0001c0002t0019a0001c0018t0003others(1): Show | a0001c0002t0003g0003a0001c0002t0003g0016a0001c0002t0003g0044others(6): Show | 50 | 396 | 0.1263 | 0 | c.259 others(8): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 19/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44301903 | G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0011others(15): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(79): Show | 358 | 396 | 0.9040 | 0 | c.259 others(8): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 19/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44301927 | CAGG | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp2 others(91): Show |
a0001a0007 | a0001c0002a0007c0010 | a0001c0002t0002a0001c0002t0010a0001c0002t0015others(2): Show | a0001c0002t0002g0002a0001c0002t0002g0006a0001c0002t0002g0026others(20): Show | 94 | 396 | 0.2374 | -3 | c.259 others(20): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 19/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44301943 | C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(351): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0011others(15): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(78): Show | 354 | 396 | 0.8939 | 0 | c.259 others(8): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 19/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44302044 | C | A | intron_variant | MODIFIER | HG01891.hp1 HG03225.hp1 |
a0008 | a0008c0009 | a0008c0009t0012 | a0008c0009t0012g0033 | 2 | 396 | 0.0051 | 0 | c.259 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 19/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44302049 | C | T | intron_variant | MODIFIER | HG02647.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 2 | 396 | 0.0051 | 0 | c.259 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 19/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44302269 | A | C | intron_variant | MODIFIER | HG02572.hp2 HG03130.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 3 | 396 | 0.0076 | 0 | c.248 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 18/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44302271 | T | C | intron_variant | MODIFIER | HG01069.hp1 HG03195.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 3 | 396 | 0.0076 | 0 | c.248 others(8): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 18/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44302344 | G | A | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 396 | 0.0025 | 0 | c.248 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 18/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44302367 | T | G | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0017 | a0001c0017t0020 | a0001c0017t0020g0054 | 1 | 396 | 0.0025 | 0 | c.248 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 18/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44302368 | G | T | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0017 | a0001c0017t0020 | a0001c0017t0020g0054 | 1 | 396 | 0.0025 | 0 | c.248 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 18/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44302383 | G | A | splice_region_variant others(1): Show |
LOW | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0024 | a0002c0003t0024g0074 | 1 | 396 | 0.0025 | 0 | c.248 others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 18/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44302600 | G | A | intron_variant | MODIFIER | HG02145.hp2 HG03453.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0014 | 4 | 396 | 0.0101 | 0 | c.236 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 17/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44302628 | C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(144): Show |
a0001a0004a0010others(2): Show | a0001c0001a0001c0017a0001c0020others(4): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0014others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(28): Show | 147 | 396 | 0.3712 | 0 | c.236 others(8): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 17/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44302643 | C | CAAAACAC others(15): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0017 | a0001c0017t0020 | a0001c0017t0020g0054 | 1 | 396 | 0.0025 | 22 | c.236 others(39): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 17/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44302691 | A | G | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp2 NA18906.hp2 others(1): Show |
a0005 | a0005c0007 | a0005c0007t0009 | a0005c0007t0009g0018 | 4 | 396 | 0.0101 | 0 | c.236 others(8): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 17/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44302747 | G | A | intron_variant | MODIFIER | HG02922.hp1 | a0011 | a0011c0013 | a0011c0013t0021 | a0011c0013t0021g0078 | 1 | 396 | 0.0025 | 0 | c.236 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 17/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44302995 | T | C | intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0091 | 1 | 396 | 0.0025 | 0 | c.225 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 16/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44303027 | C | T | intron_variant | MODIFIER | HG02572.hp2 HG03130.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 3 | 396 | 0.0076 | 0 | c.225 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 16/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44303031 | G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(197): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(41): Show | 200 | 396 | 0.5051 | 0 | c.225 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 16/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44303199 | C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(146): Show |
a0001a0004a0010others(2): Show | a0001c0001a0001c0002a0001c0017others(5): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0014others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(29): Show | 149 | 396 | 0.3763 | 0 | c.214 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 15/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44303504 | T | G | intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0051 | 1 | 396 | 0.0025 | 0 | c.200 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 14/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44303720 | G | A | intron_variant | MODIFIER | HG01891.hp1 HG02922.hp1 HG03225.hp1 |
a0008a0011 | a0008c0009a0011c0013 | a0008c0009t0012a0011c0013t0021 | a0008c0009t0012g0033a0011c0013t0021g0078 | 3 | 396 | 0.0076 | 0 | c.200 others(8): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 14/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44303924 | G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(188): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(39): Show | 191 | 396 | 0.4823 | 0 | c.200 others(8): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 14/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44303965 | A | C | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0017 | a0001c0017t0020 | a0001c0017t0020g0054 | 1 | 396 | 0.0025 | 0 | c.200 others(8): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 14/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44303981 | G | A | intron_variant | MODIFIER | HG01891.hp1 HG03225.hp1 |
a0008 | a0008c0009 | a0008c0009t0012 | a0008c0009t0012g0033 | 2 | 396 | 0.0051 | 0 | c.200 others(8): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 14/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44304051 | G | T | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 396 | 0.0025 | 0 | c.200 others(8): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 14/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44304053 | C | T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0053 | 1 | 396 | 0.0025 | 0 | c.200 others(8): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 14/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44304136 | T | A | intron_variant | MODIFIER | HG01891.hp1 HG02922.hp1 HG03225.hp1 |
a0008a0011 | a0008c0009a0011c0013 | a0008c0009t0012a0011c0013t0021 | a0008c0009t0012g0033a0011c0013t0021g0078 | 3 | 396 | 0.0076 | 0 | c.200 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 14/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44304173 | G | A | splice_region_variant others(1): Show |
LOW | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 396 | 0.0025 | 0 | c.200 others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 14/21 | chr6 | TogoVar |