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 |
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1 | X | 147582516 | G | C | ENST00000342251 | ENSG00000155966 | 147582139 | 148082193 | ENSP00000345459 | AFF2 | 1 | - | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 1 |
2 | X | 147582516 | G | C | ENST00000370457 | ENSG00000155966 | 147582139 | 148082193 | ENSP00000359486 | AFF2 | 1 | AFF2_HUMAN | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 1 |
3 | X | 147582516 | G | C | ENST00000370460 | ENSG00000155966 | 147582139 | 148082193 | ENSP00000359489 | AFF2 | 1 | AFF2_HUMAN | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 1 |
4 | X | 147733566 | C | T | ENST00000342251 | ENSG00000155966 | 147582139 | 148082193 | ENSP00000345459 | AFF2 | 1 | - | c.94C>T | p.R32W | non-syn | rs143135907 | - | T=0/C=6728;T=1/C=3834;T=1/C=10562 | lod=254:561 | DAMAGING | D | - | het | 2 |
5 | X | 147733566 | C | T | ENST00000342251 | ENSG00000155966 | 147582139 | 148082193 | ENSP00000345459 | AFF2 | 1 | - | c.94C>T | p.R32W | non-syn | rs143135907 | - | T=0/C=6728;T=1/C=3834;T=1/C=10562 | lod=254:561 | DAMAGING | D | - | hom | 3 |
6 | X | 147733566 | C | T | ENST00000370457 | ENSG00000155966 | 147582139 | 148082193 | ENSP00000359486 | AFF2 | 1 | AFF2_HUMAN | c.94C>T | p.R32W | non-syn | rs143135907 | - | T=0/C=6728;T=1/C=3834;T=1/C=10562 | lod=254:561 | DAMAGING | D | - | het | 2 |
7 | X | 147733566 | C | T | ENST00000370457 | ENSG00000155966 | 147582139 | 148082193 | ENSP00000359486 | AFF2 | 1 | AFF2_HUMAN | c.94C>T | p.R32W | non-syn | rs143135907 | - | T=0/C=6728;T=1/C=3834;T=1/C=10562 | lod=254:561 | DAMAGING | D | - | hom | 3 |
8 | X | 147733566 | C | T | ENST00000370458 | ENSG00000155966 | 147582139 | 148082193 | ENSP00000359487 | AFF2 | 1 | AFF2_HUMAN | c.94C>T | p.R32W | non-syn | rs143135907 | - | T=0/C=6728;T=1/C=3834;T=1/C=10562 | lod=254:561 | DAMAGING | D | - | het | 2 |
9 | X | 147733566 | C | T | ENST00000370458 | ENSG00000155966 | 147582139 | 148082193 | ENSP00000359487 | AFF2 | 1 | AFF2_HUMAN | c.94C>T | p.R32W | non-syn | rs143135907 | - | T=0/C=6728;T=1/C=3834;T=1/C=10562 | lod=254:561 | DAMAGING | D | - | hom | 3 |
10 | X | 147733566 | C | T | ENST00000370460 | ENSG00000155966 | 147582139 | 148082193 | ENSP00000359489 | AFF2 | 1 | AFF2_HUMAN | c.94C>T | p.R32W | non-syn | rs143135907 | - | T=0/C=6728;T=1/C=3834;T=1/C=10562 | lod=254:561 | DAMAGING | D | - | het | 2 |
11 | X | 147733566 | C | T | ENST00000370460 | ENSG00000155966 | 147582139 | 148082193 | ENSP00000359489 | AFF2 | 1 | AFF2_HUMAN | c.94C>T | p.R32W | non-syn | rs143135907 | - | T=0/C=6728;T=1/C=3834;T=1/C=10562 | lod=254:561 | DAMAGING | D | - | hom | 3 |
12 | X | 147743744 | C | T | ENST00000342251 | ENSG00000155966 | 147582139 | 148082193 | ENSP00000345459 | AFF2 | 1 | - | c.484C>T | p.P162S | non-syn | rs150996735 | - | T=11/C=6717;T=0/C=3835;T=11/C=10552 | - | TOLERATED | B | - | het | 1 |
13 | X | 147743744 | C | T | ENST00000342251 | ENSG00000155966 | 147582139 | 148082193 | ENSP00000345459 | AFF2 | 1 | - | c.484C>T | p.P162S | non-syn | rs150996735 | - | T=11/C=6717;T=0/C=3835;T=11/C=10552 | - | TOLERATED | B | - | hom | 1 |
14 | X | 147743744 | C | T | ENST00000370457 | ENSG00000155966 | 147582139 | 148082193 | ENSP00000359486 | AFF2 | 1 | AFF2_HUMAN | c.484C>T | p.P162S | non-syn | rs150996735 | - | T=11/C=6717;T=0/C=3835;T=11/C=10552 | - | TOLERATED | B | - | het | 1 |
15 | X | 147743744 | C | T | ENST00000370457 | ENSG00000155966 | 147582139 | 148082193 | ENSP00000359486 | AFF2 | 1 | AFF2_HUMAN | c.484C>T | p.P162S | non-syn | rs150996735 | - | T=11/C=6717;T=0/C=3835;T=11/C=10552 | - | TOLERATED | B | - | hom | 1 |
16 | X | 147743744 | C | T | ENST00000370458 | ENSG00000155966 | 147582139 | 148082193 | ENSP00000359487 | AFF2 | 1 | AFF2_HUMAN | c.484C>T | p.P162S | non-syn | rs150996735 | - | T=11/C=6717;T=0/C=3835;T=11/C=10552 | - | TOLERATED | B | - | het | 1 |
17 | X | 147743744 | C | T | ENST00000370458 | ENSG00000155966 | 147582139 | 148082193 | ENSP00000359487 | AFF2 | 1 | AFF2_HUMAN | c.484C>T | p.P162S | non-syn | rs150996735 | - | T=11/C=6717;T=0/C=3835;T=11/C=10552 | - | TOLERATED | B | - | hom | 1 |
18 | X | 147743744 | C | T | ENST00000370460 | ENSG00000155966 | 147582139 | 148082193 | ENSP00000359489 | AFF2 | 1 | AFF2_HUMAN | c.496C>T | p.P166S | non-syn | rs150996735 | - | T=11/C=6717;T=0/C=3835;T=11/C=10552 | - | TOLERATED | B | - | het | 1 |
19 | X | 147743744 | C | T | ENST00000370460 | ENSG00000155966 | 147582139 | 148082193 | ENSP00000359489 | AFF2 | 1 | AFF2_HUMAN | c.496C>T | p.P166S | non-syn | rs150996735 | - | T=11/C=6717;T=0/C=3835;T=11/C=10552 | - | TOLERATED | B | - | hom | 1 |
20 | X | 147744159 | C | G | ENST00000342251 | ENSG00000155966 | 147582139 | 148082193 | ENSP00000345459 | AFF2 | 1 | - | c.899C>G | p.T300R | non-syn | NA | - | - | lod=61:409 | TOLERATED | D | - | het | 1 |