Table 4 |
||||||||
|
Zygosity and functional annotation of exonic variants |
||||||||
|
Variant type |
NA15510 |
HE00069 |
||||||
|
|
|
|||||||
|
Heterozygote |
Homozygote |
Heterozygote |
Homozygote |
|||||
|
|
|
|
|
|||||
|
All |
Novel |
All |
Novel |
All |
Novel |
All |
Novel |
|
|
|
||||||||
|
Exonic |
699 |
50 |
303 |
1 |
719 |
67 |
330 |
8 |
|
--- coding |
356 |
18 |
165 |
0 |
359 |
19 |
157 |
3 |
|
--- 3' UTR |
306 |
12 |
120 |
1 |
325 |
24 |
158 |
2 |
|
--- 5' UTR |
37 |
1 |
18 |
0 |
35 |
4 |
15 |
0 |
|
Nonsynonymous |
129 |
8 |
62 |
0 |
140 |
11 |
65 |
2 |
|
Synonymous |
227 |
10 |
103 |
0 |
219 |
8 |
92 |
1 |
|
Protein damaging |
5 |
1 |
4 |
0 |
8 |
1 |
5 |
0 |
|
|
||||||||
|
Tewhey et al. Genome Biology 2009 10:R116 doi:10.1186/gb-2009-10-10-r116 |
||||||||
