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 | 17 | 13972814 | G | A | ENST00000429152 | ENSG00000006695 | 13972813 | 14111994 | ENSP00000397750 | COX10 | 1 | - | - | - | 5'_UTR | rs28680987 | 0.1706 | - | - | - | - | - | het | 173 |
2 | 17 | 13972814 | G | A | ENST00000429152 | ENSG00000006695 | 13972813 | 14111994 | ENSP00000397750 | COX10 | 1 | - | - | - | 5'_UTR | rs28680987 | 0.1706 | - | - | - | - | - | hom | 32 |
3 | 17 | 13972860 | C | T | ENST00000261643 | ENSG00000006695 | 13972813 | 14111994 | ENSP00000261643 | COX10 | 1 | COX10_HUMAN | - | - | 5'_UTR | rs77877576 | 0.0332 | T=98/C=3084;T=13/C=1371;T=111/C=4455 | lod=92:452 | - | - | - | het | 57 |
4 | 17 | 13972860 | C | T | ENST00000261643 | ENSG00000006695 | 13972813 | 14111994 | ENSP00000261643 | COX10 | 1 | COX10_HUMAN | - | - | 5'_UTR | rs77877576 | 0.0332 | T=98/C=3084;T=13/C=1371;T=111/C=4455 | lod=92:452 | - | - | - | hom | 7 |
5 | 17 | 13972860 | C | T | ENST00000429152 | ENSG00000006695 | 13972813 | 14111994 | ENSP00000397750 | COX10 | 1 | - | - | - | 5'_UTR | rs77877576 | 0.0332 | T=98/C=3084;T=13/C=1371;T=111/C=4455 | lod=92:452 | - | - | - | het | 57 |
6 | 17 | 13972860 | C | T | ENST00000429152 | ENSG00000006695 | 13972813 | 14111994 | ENSP00000397750 | COX10 | 1 | - | - | - | 5'_UTR | rs77877576 | 0.0332 | T=98/C=3084;T=13/C=1371;T=111/C=4455 | lod=92:452 | - | - | - | hom | 7 |
7 | 17 | 13972899 | G | A | ENST00000261643 | ENSG00000006695 | 13972813 | 14111994 | ENSP00000261643 | COX10 | 1 | COX10_HUMAN | - | - | 5'_UTR | rs201257809 | - | A=1/G=8599;A=0/G=4406;A=1/G=13005 | - | - | - | - | het | 1 |
8 | 17 | 13972899 | G | A | ENST00000429152 | ENSG00000006695 | 13972813 | 14111994 | ENSP00000397750 | COX10 | 1 | - | - | - | 5'_UTR | rs201257809 | - | A=1/G=8599;A=0/G=4406;A=1/G=13005 | - | - | - | - | het | 1 |
9 | 17 | 13972955 | C | T | ENST00000261643 | ENSG00000006695 | 13972813 | 14111994 | ENSP00000261643 | COX10 | 1 | COX10_HUMAN | c.33C>T | p.R11R | syn | rs8076787 | 0.0574 | T=579/C=8021;T=49/C=4357;T=628/C=12378 | lod=58:403 | - | - | - | het | 114 |
10 | 17 | 13972955 | C | T | ENST00000261643 | ENSG00000006695 | 13972813 | 14111994 | ENSP00000261643 | COX10 | 1 | COX10_HUMAN | c.33C>T | p.R11R | syn | rs8076787 | 0.0574 | T=579/C=8021;T=49/C=4357;T=628/C=12378 | lod=58:403 | - | - | - | hom | 7 |
11 | 17 | 13972955 | C | T | ENST00000429152 | ENSG00000006695 | 13972813 | 14111994 | ENSP00000397750 | COX10 | 1 | - | c.33C>T | p.R11R | syn | rs8076787 | 0.0574 | T=579/C=8021;T=49/C=4357;T=628/C=12378 | lod=58:403 | - | - | - | het | 114 |
12 | 17 | 13972955 | C | T | ENST00000429152 | ENSG00000006695 | 13972813 | 14111994 | ENSP00000397750 | COX10 | 1 | - | c.33C>T | p.R11R | syn | rs8076787 | 0.0574 | T=579/C=8021;T=49/C=4357;T=628/C=12378 | lod=58:403 | - | - | - | hom | 7 |
13 | 17 | 13972955 | C | T | ENST00000536205 | ENSG00000006695 | 13972813 | 14111994 | ENSP00000439494 | COX10 | 1 | - | - | - | 5'_UTR | rs8076787 | 0.0574 | T=579/C=8021;T=49/C=4357;T=628/C=12378 | lod=58:403 | - | - | - | het | 114 |
14 | 17 | 13972955 | C | T | ENST00000536205 | ENSG00000006695 | 13972813 | 14111994 | ENSP00000439494 | COX10 | 1 | - | - | - | 5'_UTR | rs8076787 | 0.0574 | T=579/C=8021;T=49/C=4357;T=628/C=12378 | lod=58:403 | - | - | - | hom | 7 |
15 | 17 | 13972955 | C | T | ENST00000537334 | ENSG00000006695 | 13972813 | 14111994 | ENSP00000443354 | COX10 | 1 | - | - | - | 5'_UTR | rs8076787 | 0.0574 | T=579/C=8021;T=49/C=4357;T=628/C=12378 | lod=58:403 | - | - | - | het | 114 |
16 | 17 | 13972955 | C | T | ENST00000537334 | ENSG00000006695 | 13972813 | 14111994 | ENSP00000443354 | COX10 | 1 | - | - | - | 5'_UTR | rs8076787 | 0.0574 | T=579/C=8021;T=49/C=4357;T=628/C=12378 | lod=58:403 | - | - | - | hom | 7 |
17 | 17 | 13972955 | C | T | ENST00000580561 | ENSG00000006695 | 13972813 | 14111994 | ENSP00000462190 | COX10 | 1 | - | c.33C>T | p.R11R | syn | rs8076787 | 0.0574 | T=579/C=8021;T=49/C=4357;T=628/C=12378 | lod=58:403 | - | - | - | het | 114 |
18 | 17 | 13972955 | C | T | ENST00000580561 | ENSG00000006695 | 13972813 | 14111994 | ENSP00000462190 | COX10 | 1 | - | c.33C>T | p.R11R | syn | rs8076787 | 0.0574 | T=579/C=8021;T=49/C=4357;T=628/C=12378 | lod=58:403 | - | - | - | hom | 7 |
19 | 17 | 13972955 | C | T | ENST00000581931 | ENSG00000006695 | 13972813 | 14111994 | ENSP00000462512 | COX10 | 1 | - | c.33C>T | p.R11R | syn | rs8076787 | 0.0574 | T=579/C=8021;T=49/C=4357;T=628/C=12378 | lod=58:403 | - | - | - | het | 114 |
20 | 17 | 13972955 | C | T | ENST00000581931 | ENSG00000006695 | 13972813 | 14111994 | ENSP00000462512 | COX10 | 1 | - | c.33C>T | p.R11R | syn | rs8076787 | 0.0574 | T=579/C=8021;T=49/C=4357;T=628/C=12378 | lod=58:403 | - | - | - | hom | 7 |