Table 3. Results for the nine top-ranked variants after genotyping additional family members in the 75 high-risk families.
| SIFT | PolyPhen2 | Prostate Tissue | Final | No. Aff | No. Unaff | Avg Carrier | ||
|---|---|---|---|---|---|---|---|---|
| Chr:Position | Variant | Prediction - Score | Prediction - Score | Expressiona | No. Fam | (n = 372) | (n = 238) | Frequency (%)b |
| 1:22923859 | EPHA8 p.Pro607His | Deleterious - 0.02 | Benign - 0.432 | No | 7 | 17 | 10 | 53.7 |
| 2:242695399 | D2HGDH p.Ala225Thr | Deleterious - 0.04 | Possibly - 0.774 | Yes | 9 | 24 | 11 | 40.1 |
| 3:97868404 | OR5H14 p.Met59Val | Deleterious - 0 | Probably - 0.994 | No | 7 | 12 | 6 | 34.9 |
| 6:32946119 | BRD2 p.Ala605Pro | Tolerated - 0.37 | Possibly - 0.870 | Yes | 3 | 8 | 1 | 56.7 |
| 17:46805705 | HOXB13 p.Gly84Glu | Deleterious - 0 | Probably - 0.999 | Yes | 5 | 11 | 5 | 51.3 |
| 17:48542714 | CHAD p.Ala342Asp | Deleterious - 0.02 | Possibly - 0.608 | Yes | 5 | 13 | 1 | 50.4 |
| 19:11486354 | SWSAP1 p.Leu118Ile | Deleterious - 0 | Probably - 0.991 | Yes | 5 | 11 | 3 | 46.0 |
| 22:20024596 | TANGO2 p.Ser17Ter | NAc | NAc | Yes | 3 | 9 | 4 | 63.3 |
| 22:50873415 | PPP6R2 p.Arg103His | Tolerated - 0.17 | Probably - 0.977 | Yes | 3 | 10 | 7 | 64.3 |
a
Prostate tissue expression were determined using the GTEx Portal (http://www.gtexportal.org/).
b
Supplemental Table S5 has the number of cases with the minor allele and the total number of cases for each segregating family.
c
SIFT and PolyPhen2 do not make predictions for nonsense mutations.