Table 4 Zygosity and functional annotation of exonic variants
From: Enrichment of sequencing targets from the human genome by solution hybridization
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 |