No. | Chr | Position | Reference | Variant | EnsemblTranscriptID | EnsemblGeneID | Gene_Start | Gene_End | EnsemblProteinID | Gene | strand | Uniprot | cChange | pChange | Nature | dbSNP | Freq | EVS | phastCons | SIFT | Polyphen | HGMD | type | samples |
---|
1 | 16 | 70286550 | T | A | ENST00000261772 | ENSG00000090861 | 70286198 | 70323446 | ENSP00000261772 | AARS | -1 | SYAC_HUMAN | - | - | 3'_UTR | rs11537663 | 0.07264 | - | - | - | - | - | het | 64 |
2 | 16 | 70286550 | T | A | ENST00000261772 | ENSG00000090861 | 70286198 | 70323446 | ENSP00000261772 | AARS | -1 | SYAC_HUMAN | - | - | 3'_UTR | rs11537663 | 0.07264 | - | - | - | - | - | hom | 4 |
3 | 16 | 70286553 | A | C | ENST00000261772 | ENSG00000090861 | 70286198 | 70323446 | ENSP00000261772 | AARS | -1 | SYAC_HUMAN | - | - | 3'_UTR | NA | - | - | - | - | - | - | hom | 1 |
4 | 16 | 70286612 | C | G | ENST00000261772 | ENSG00000090861 | 70286198 | 70323446 | ENSP00000261772 | AARS | -1 | SYAC_HUMAN | - | - | 3'_UTR | NA | - | - | - | - | - | - | het | 2 |
5 | 16 | 70286631 | T | A | ENST00000261772 | ENSG00000090861 | 70286198 | 70323446 | ENSP00000261772 | AARS | -1 | SYAC_HUMAN | c.2900A>T | p.K967M | non-syn | rs35744709 | 0.0104 | A=116/T=8484;A=18/T=4378;A=134/T=12862 | lod=140:497 | DAMAGING | D | - | hom | 3 |
6 | 16 | 70286631 | T | A | ENST00000261772 | ENSG00000090861 | 70286198 | 70323446 | ENSP00000261772 | AARS | -1 | SYAC_HUMAN | c.2900A>T | p.K967M | non-syn | rs35744709 | 0.0104 | A=116/T=8484;A=18/T=4378;A=134/T=12862 | lod=140:497 | DAMAGING | D | - | het | 36 |
7 | 16 | 70286740 | C | T | ENST00000261772 | ENSG00000090861 | 70286198 | 70323446 | ENSP00000261772 | AARS | -1 | SYAC_HUMAN | c.2791G>A | p.G931S | non-syn | rs149377346 | 0.0021 | T=91/C=8509;T=8/C=4388;T=99/C=12897 | lod=696:669 | TOLERATED | P | - | het | 42 |
8 | 16 | 70286740 | C | T | ENST00000261772 | ENSG00000090861 | 70286198 | 70323446 | ENSP00000261772 | AARS | -1 | SYAC_HUMAN | c.2791G>A | p.G931S | non-syn | rs149377346 | 0.0021 | T=91/C=8509;T=8/C=4388;T=99/C=12897 | lod=696:669 | TOLERATED | P | - | hom | 1 |
9 | 16 | 70287177 | A | G | ENST00000261772 | ENSG00000090861 | 70286198 | 70323446 | ENSP00000261772 | AARS | -1 | SYAC_HUMAN | c.2715T>C | p.V905V | syn | rs4081753 | 0.77545 | G=6826/A=1774;G=4210/A=186;G=11036/A=1960 | lod=123:483 | - | - | - | hom | 638 |
10 | 16 | 70287177 | A | G | ENST00000261772 | ENSG00000090861 | 70286198 | 70323446 | ENSP00000261772 | AARS | -1 | SYAC_HUMAN | c.2715T>C | p.V905V | syn | rs4081753 | 0.77545 | G=6826/A=1774;G=4210/A=186;G=11036/A=1960 | lod=123:483 | - | - | - | het | 209 |
11 | 16 | 70287192 | C | T | ENST00000261772 | ENSG00000090861 | 70286198 | 70323446 | ENSP00000261772 | AARS | -1 | SYAC_HUMAN | c.2700G>A | p.T900T | syn | rs140814462 | - | T=0/C=8600;T=1/C=4395;T=1/C=12995 | lod=212:542 | - | - | - | het | 1 |
12 | 16 | 70287496 | C | G | ENST00000569825 | ENSG00000090861 | 70286198 | 70323446 | - | AARS | -1 | - | c.734G>C | p.W245S | non-syn | NA | - | - | - | - | - | - | het | 1 |
13 | 16 | 70287574 | A | G | ENST00000569825 | ENSG00000090861 | 70286198 | 70323446 | - | AARS | -1 | - | c.656T>C | p.L219P | non-syn | rs8045571 | 0.1361 | G=7/A=8593;G=965/A=3431;G=972/A=12024 | - | TOLERATED | - | - | het | 7 |
14 | 16 | 70287574 | A | G | ENST00000569825 | ENSG00000090861 | 70286198 | 70323446 | - | AARS | -1 | - | c.656T>C | p.L219P | non-syn | rs8045571 | 0.1361 | G=7/A=8593;G=965/A=3431;G=972/A=12024 | - | TOLERATED | - | - | hom | 1 |
15 | 16 | 70287586 | C | +T | ENST00000569825 | ENSG00000090861 | 70286198 | 70323446 | - | AARS | -1 | - | c.643_644insA | p.R215NA | non-syn | NA | - | - | - | - | - | - | het | 3 |
16 | 16 | 70287706 | G | A | ENST00000261772 | ENSG00000090861 | 70286198 | 70323446 | ENSP00000261772 | AARS | -1 | SYAC_HUMAN | - | - | -3bp 3'_splice_site | rs200586605 | - | A=29/G=8571;A=1/G=4395;A=30/G=12966 | - | - | - | - | het | 3 |
17 | 16 | 70287706 | G | A | ENST00000569825 | ENSG00000090861 | 70286198 | 70323446 | - | AARS | -1 | - | - | - | -3bp 3'_splice_site | rs200586605 | - | A=29/G=8571;A=1/G=4395;A=30/G=12966 | - | - | - | - | het | 3 |
18 | 16 | 70287883 | T | C | ENST00000261772 | ENSG00000090861 | 70286198 | 70323446 | ENSP00000261772 | AARS | -1 | SYAC_HUMAN | c.2459A>G | p.K820R | non-syn | rs147319762 | 0.00881 | C=14/T=8586;C=2/T=4394;C=16/T=12980 | lod=167:516 | DAMAGING | D | - | het | 7 |
19 | 16 | 70287883 | T | C | ENST00000569825 | ENSG00000090861 | 70286198 | 70323446 | - | AARS | -1 | - | c.465A>G | p.Q155Q | syn | rs147319762 | 0.00881 | C=14/T=8586;C=2/T=4394;C=16/T=12980 | lod=167:516 | DAMAGING | D | - | het | 7 |
20 | 16 | 70288653 | G | A | ENST00000261772 | ENSG00000090861 | 70286198 | 70323446 | ENSP00000261772 | AARS | -1 | SYAC_HUMAN | - | - | -16bp 3'_splice_site | NA | - | A=2/G=8598;A=0/G=4396;A=2/G=12994 | - | - | - | - | het | 3 |