Table 2.
Functional content of the variants on the Human Exome array (HE) and the Human Omni ExpressExome plus imputable marker array (HOEEi) indicating the number of variants and rate in each of nine functional classes (see Methods).
| Functional group | HE variants | Rate | HOEEi | Rate |
|---|---|---|---|---|
| Splicing Change Variants | 372 | 0.030 | 625 | 0.015 |
| Probably Damaging nscSNPs | 54,970 | 0.267 | 67,328 | 0.272 |
| Possibly Damaging nscSNPs | 39,144 | 0.190 | 46,290 | 0.187 |
| Protein motif damaging Variants | 23,304 | 0.292 | 27,283 | 0.293 |
| TFBS Disrupting Variants | 0 | 0.000 | 10 | 0.004 |
| pre-miRNA Disrupting Variants | 6 | 0.000 | 201 | 0.000 |
| miRNA-BS Disrupting Variants | 236 | 0.062 | 1,931 | 0.055 |
| ESE-BS Disrupting Variants | 17,500 | 0.117 | 27,058 | 0.117 |
| ESS-BS Disrupting Variants | 6,439 | 0.114 | 9,869 | 0.116 |
| Total Likely Functional Variants | 117,678 | 0.495 | 150,035 | 0.007 |