Table 2. Germline variants detected in prostate cancer patients.
| Samples | Variant GRCh37 position | rs ID | cDNA change | Genotype | Protein change | 1000G* MAF% | Exome Variant Server MAF% |
|---|---|---|---|---|---|---|---|
| HPC311 + P308T | 17:46805573 | N/A | c.383C>A | Het | p.(Ala128Asp) | Not reported | Not reported |
| HPC169 | 17:46804287 | N/A | c.720C>A | Het | p.(Phe240Leu) | Not reported | Not reported |
| HPC474 | 17:46805860 | N/A | c.96T>A | Het | p. (=) | Not reported | Not reported |
| HPC138 | 17:46804424 | N/A | c.602-19T>G | Het | N/A | Not reported | Not reported |
| HPC2 | 17:46804414 | rs148901331 | c.602-9G>A | Het | N/A | IBS: 0.00% (0/214); GBR: 0.00% (0/182); ASW: 0.00% (0/122). | EA: 0.07% (6/8600); AA: 0% (0/4406); All: 0.05% (6/13006). |
| HPC374 + HPC461 | 17:46804124 | rs371753257 | c.*28C>A | Het | N/A | IBS: 0.00% (0/214); GBR: 0.00% (0/182); ASW: 0.00% (0/122). | EA: 0.03% (3/8600); AA: 0% (0/4406); All: 0.02% (3/13006). |
| HPC517 | 17:46805626 | rs33993186 | c.330C>A | Het | p. (=) | IBS: 0.00% (0/214); GBR: 0.00% (0/182); ASW: 1.64% (2/122). | EA: 0.16% (14/8600); AA: 2.36% (104/4406); All: 0.91% (118/13006). |
| multiple samples | 17:46805590 | rs8556 | c.366C>T | Het/Hom | p. (=) | IBS: 13.08% (28/214); GBR: 12.64% (23/182); ASW: 25.41% (31/122). | EA: 13.21% (1136/8600); AA: 26.24% (1156/4406); All: 17.62% (2292/13006). |
| multiple samples | 17:46805443 | rs9900627 | c.513T>C | Het/Hom | p. (=) | IBS: 9.81% (21/214); GBR: 10.44% (19/182); ASW: 10.66% (13/122). | EA: 9.60% (826/8600); AA: 10.74% (473/4406); All: 9.99% (1299/13006). |
*1000 Genomes Project phase 3; AA–African-American; ASW–Americans of African Ancestry in Southwest USA; EA–European-American; GBR–British of England and Scotland; Het–Heterozygous; Hom–Homozygous; IBS–Iberian population in Spain; MAF–Minor allele frequency; N/A–Not applicable; p. (=) –protein has not been analyzed, but no change is expected.