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 | 3 | 189349245 | A | G | ENST00000264731 | ENSG00000073282 | 189349205 | 189615068 | ENSP00000264731 | TP63 | 1 | P63_HUMAN | - | - | 5'_UTR | NA | - | G=2/A=3180;G=0/A=1384;G=2/A=4564 | lod=55:397 | - | - | - | het | 6 |
2 | 3 | 189349245 | A | G | ENST00000382063 | ENSG00000073282 | 189349205 | 189615068 | ENSP00000371495 | TP63 | 1 | P63_HUMAN | - | - | 5'_UTR | NA | - | G=2/A=3180;G=0/A=1384;G=2/A=4564 | lod=55:397 | - | - | - | het | 6 |
3 | 3 | 189349245 | A | G | ENST00000486398 | ENSG00000073282 | 189349205 | 189615068 | - | TP63 | 1 | - | c.41A>G | p.Y14C | non-syn | NA | - | G=2/A=3180;G=0/A=1384;G=2/A=4564 | lod=55:397 | - | - | - | het | 6 |
4 | 3 | 189349247 | A | T | ENST00000264731 | ENSG00000073282 | 189349205 | 189615068 | ENSP00000264731 | TP63 | 1 | P63_HUMAN | - | - | 5'_UTR | rs28673064 | 0.5984 | T=1542/A=1640;T=551/A=833;T=2093/A=2473 | lod=55:397 | - | - | - | hom | 175 |
5 | 3 | 189349247 | A | T | ENST00000264731 | ENSG00000073282 | 189349205 | 189615068 | ENSP00000264731 | TP63 | 1 | P63_HUMAN | - | - | 5'_UTR | rs28673064 | 0.5984 | T=1542/A=1640;T=551/A=833;T=2093/A=2473 | lod=55:397 | - | - | - | het | 411 |
6 | 3 | 189349247 | A | T | ENST00000382063 | ENSG00000073282 | 189349205 | 189615068 | ENSP00000371495 | TP63 | 1 | P63_HUMAN | - | - | 5'_UTR | rs28673064 | 0.5984 | T=1542/A=1640;T=551/A=833;T=2093/A=2473 | lod=55:397 | - | - | - | hom | 175 |
7 | 3 | 189349247 | A | T | ENST00000382063 | ENSG00000073282 | 189349205 | 189615068 | ENSP00000371495 | TP63 | 1 | P63_HUMAN | - | - | 5'_UTR | rs28673064 | 0.5984 | T=1542/A=1640;T=551/A=833;T=2093/A=2473 | lod=55:397 | - | - | - | het | 411 |
8 | 3 | 189349247 | A | T | ENST00000486398 | ENSG00000073282 | 189349205 | 189615068 | - | TP63 | 1 | - | c.43A>T | p.M15L | non-syn | rs28673064 | 0.5984 | T=1542/A=1640;T=551/A=833;T=2093/A=2473 | lod=55:397 | - | - | - | hom | 175 |
9 | 3 | 189349247 | A | T | ENST00000486398 | ENSG00000073282 | 189349205 | 189615068 | - | TP63 | 1 | - | c.43A>T | p.M15L | non-syn | rs28673064 | 0.5984 | T=1542/A=1640;T=551/A=833;T=2093/A=2473 | lod=55:397 | - | - | - | het | 411 |
10 | 3 | 189349297 | T | C | ENST00000264731 | ENSG00000073282 | 189349205 | 189615068 | ENSP00000264731 | TP63 | 1 | P63_HUMAN | - | - | 5'_UTR | NA | - | - | lod=352:596 | - | - | - | het | 2 |
11 | 3 | 189349297 | T | C | ENST00000320472 | ENSG00000073282 | 189349205 | 189615068 | ENSP00000317510 | TP63 | 1 | P63_HUMAN | - | - | 5'_UTR | NA | - | - | lod=352:596 | - | - | - | het | 2 |
12 | 3 | 189349297 | T | C | ENST00000382063 | ENSG00000073282 | 189349205 | 189615068 | ENSP00000371495 | TP63 | 1 | P63_HUMAN | - | - | 5'_UTR | NA | - | - | lod=352:596 | - | - | - | het | 2 |
13 | 3 | 189349297 | T | C | ENST00000418709 | ENSG00000073282 | 189349205 | 189615068 | ENSP00000407144 | TP63 | 1 | P63_HUMAN | - | - | 5'_UTR | NA | - | - | lod=352:596 | - | - | - | het | 2 |
14 | 3 | 189349297 | T | C | ENST00000486398 | ENSG00000073282 | 189349205 | 189615068 | - | TP63 | 1 | - | c.93T>C | p.V31V | syn | NA | - | - | lod=352:596 | - | - | - | het | 2 |
15 | 3 | 189456420 | C | -TA | ENST00000264731 | ENSG00000073282 | 189349205 | 189615068 | ENSP00000264731 | TP63 | 1 | P63_HUMAN | - | - | -9bp 3'_splice_site | rs145959198 | - | - | - | - | - | - | het | 1 |
16 | 3 | 189456420 | C | -TA | ENST00000320472 | ENSG00000073282 | 189349205 | 189615068 | ENSP00000317510 | TP63 | 1 | P63_HUMAN | - | - | -9bp 3'_splice_site | rs145959198 | - | - | - | - | - | - | het | 1 |
17 | 3 | 189456420 | C | -TA | ENST00000382063 | ENSG00000073282 | 189349205 | 189615068 | ENSP00000371495 | TP63 | 1 | P63_HUMAN | - | - | -9bp 3'_splice_site | rs145959198 | - | - | - | - | - | - | het | 1 |
18 | 3 | 189456420 | C | -TA | ENST00000392460 | ENSG00000073282 | 189349205 | 189615068 | ENSP00000376253 | TP63 | 1 | P63_HUMAN | - | - | -9bp 3'_splice_site | rs145959198 | - | - | - | - | - | - | het | 1 |
19 | 3 | 189456420 | C | -TA | ENST00000418709 | ENSG00000073282 | 189349205 | 189615068 | ENSP00000407144 | TP63 | 1 | P63_HUMAN | - | - | -9bp 3'_splice_site | rs145959198 | - | - | - | - | - | - | het | 1 |
20 | 3 | 189456420 | C | -TA | ENST00000440651 | ENSG00000073282 | 189349205 | 189615068 | ENSP00000394337 | TP63 | 1 | P63_HUMAN | - | - | -9bp 3'_splice_site | rs145959198 | - | - | - | - | - | - | het | 1 |