Low Confidence | Present (n = 44) | Not Present (n = 513) | ||
---|---|---|---|---|
AF < 30% (37) | AF ≥ 30% (7) | AF < 30% (505) | AF ≥ 30% (8) | |
Low coverage (20–30 reads) | 0 | 2 | 15 | 2 |
Low GC content (GC20 < 0.25) | 2 | 2 | 23 | 2 |
Low GC content (GC50 < 0.25) | 1 | 0 | 5 | 0 |
High GC content (GC20 > 0.75) | 1 | 0 | 206 | 1 |
High GC content (GC50 > 0.75) | 0 | 0 | 35 | 1 |
Homopolymer (> = 10 within 20 bp) | 0 | 3 | 15 | 7 |
Segmental duplication | 16 | 4 | 67 | 0 |
Processed pseudogene | 0 | 0 | 3 | 0 |
Repeatmasker | 0 | 2 | 6 | 0 |
Other | 17 | 2 | 246 | 0 |