| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_002947 | 3,377,936 | C→T | 26.7% | L511L (CTG→TTG) | PP_2974 → | sulfatase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_002947 | 3,377,936 | 0 | C | T | 26.7% | 20.9 / 5.5 | 15 | L511L (CTG→TTG) | PP_2974 | sulfatase |
| Reads supporting (aligned to +/- strand): ref base C (6/5); new base T (2/2); total (8/7) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 4.60e-01 | |||||||||||
ATGCACTCCTGCAAACGCTTTCAAACCATACGCCTTACGCGCTGCCAGGTGTGTTGCCTGTTGAGCCCGTGACAGGGCAAGGTTCGCTTGATCAGCACCTGACAGCTATGCGTTATTCTGACTGGGCTCTGGGACGATTTTTTGAAAAGGCTCGTAAAGCGCCTTATTTCAAAGACACCCTATTCGTGGTCGTGGGTGACCATGGCTTTGGTGCTCAAGAGCAGTTAACCGAGATGGATCTGTACCGGT > NC_002947/3377808‑3378056 | aTGCACTCCTGCAAACGCTTTCAAACCATACGCCTTACGCGCTGCCAGGTGTGTTGCCTGTTGAGCCCGTGACAGGGCAAGGTTCGCTTGATCAGCACCTGACAGCTATGCGTTATTCTGACTGGGCTCTGGGACg > 1:16782/1‑136 (MQ=255) ccTGCAAACGCTTTCAAACCATACGCCTTACGCGCTGCCAGGTGTGTTGCCTGTTGAGCCCGTGACAGGGCAAGGTTCGCTTGATCAGCACCTGACAGCTATGCGTTATTCTGACTGGGCTCTGGGACGAtttttt > 1:187381/1‑136 (MQ=255) tGCAAACGCTTTCAAACCATACGCCTTACGCGCTGCCAGGTGTGTTGCCTGTTGAGCCCGTGACAGGGCAAGGTTCGCTTGATCAGCACCTGACAGCTATGCGTTATTCTGACTGGGCTCTGGGACGATTTTTTGa > 1:169489/1‑136 (MQ=255) tGCAAACGCTTTCAAACCATACGCCTTACGCGCTGCCAGGTGTGTTGCCTGTTGAGCCCGTGACAGGGCAAGGTTCACTTGATCAGCACCTGACAGCTATGCGTTATTCTGACTGGGCTCTGGGACGATTTTTTGa > 1:259571/1‑136 (MQ=255) ttCAAACCATACGCCTTACGCGCTGCCAGGTGTGTTGCCTGTTGAGCCCGTGACAGGGCAAGGTTCGCTTGATCAGCACCTGACAGCTATGCGTTATTCTGACTGGGCTTTGGGACGATTTTTTGAAAAGGCTCGt > 2:143804/1‑136 (MQ=255) ttCAAACCATACGCCTTACGCGCTGCCAGGTGTGTTGCCTGTTGAGCCCGTGACAGGGCAAGGTTCGCTTGATCAGCACCTGACAGCTATGCGTTATTCTGACTGGGCTTTGGGACGATTTTTTGAAAAGGCTCGt > 2:145297/1‑136 (MQ=255) ttCAAACCATACGCCTTACGCGCTGCCAGGTGTGTTGCCTGTTGAGCCCGTGACAGGGCAAGGTTCGCTTGATCAGCACCTGACAGCTATGCGTTATTCTGACTGGGCTCTGGGACGATTTTTTGAAAAGGCTCGt > 1:251997/1‑136 (MQ=255) aCGCGCTGCCAGGTGTGGTGCCTGTTGAGCCCGTGACAGGGCAAGGTTCGCTTGATCAGCACCTGACAGCTATGCGTTATTCTGACTGGGCTCTGGGACGATTTTTTGAAAAGGCTCGTAAAGCGCCTTATTTCaa < 1:182417/136‑1 (MQ=255) ccTGTTGAGCCCGTGACAGGGCAAGGTTCACTTGATCAGCACCTGACAGCTATGCGTTATTCTGACTGGGCTCTGGGACGATTTTTTGAAAAGGCTCGTAAAGCGCCTTATTTCAAAGACACCCTATtcgtggtcg < 2:259571/136‑1 (MQ=255) tGAGCCCGTGACAGGGCAAGGTTCGCTTGATCAGCACCTGACAGCTATGCGTTATTCTGACTGGGCTCTGGGACGATTTTTTGAAAAGGCTCGTAAAGCGCCTTATTTCAAAGACACCCTATTCGTGGTCGTGGGt < 2:251997/136‑1 (MQ=255) cAGGGCAAGGTTCGCTTGATCAGCACCTGACAGCTATGCGTTATTCTGACTGGGCTCTGGGACGATTTTTTGAAAAGGCTCGTAAAGCGCCTTATTTCAAAGACACCCTATTCGTGGTCGTGGGTGACCATGGCtt > 2:254741/1‑136 (MQ=255) aTCAGCACCTGACAGCTATGCGTTATTCTGACTGGGCTTTGGGACGATTTTTTGAAAAGGCTCGTAAAGCGCCTTATTTCAAAGACACCCTATTCGTGGTCGTGGGTGACCATGGCTTTGGTGCTCAAGAGCAGtt < 1:143804/136‑1 (MQ=255) aTCAGCACCTGACAGCTATGCGTTATTCTGACTGGGCTTTGGGACGATTTTTTGAAAAGGCTCGTAAAGCGCCTTATTTCAAAGACACCCTATTCGTGGTCGTGGGTGACCATGGCTTTGGTGCTCAAGAGCAGtt < 1:145297/136‑1 (MQ=255) gACAGCTATGCGTTATTCTGACTGGGCTCTGGGACGATTTTTTGAAAAGGCTCGTAAAGCGCCTTATTTCAAAGACACCCTATTCGTGGTCGTGGGTGACCATGGCTTTGGTGCTCAAGAGCAGTTAACCGAGATg < 2:187381/136‑1 (MQ=255) tATTCTGACTGGGCTCTGGGACGATTTTTTGAAAAGGCTCGTAAAGCGCCTTATTTCAAAGACACCCTATTCGTGGTCGTGGGTGACCATGGCTTTGGTGCTCAAGAGCAGTTAACCGAGATGGATCTGTACCGGt < 2:16782/136‑1 (MQ=255) | ATGCACTCCTGCAAACGCTTTCAAACCATACGCCTTACGCGCTGCCAGGTGTGTTGCCTGTTGAGCCCGTGACAGGGCAAGGTTCGCTTGATCAGCACCTGACAGCTATGCGTTATTCTGACTGGGCTCTGGGACGATTTTTTGAAAAGGCTCGTAAAGCGCCTTATTTCAAAGACACCCTATTCGTGGTCGTGGGTGACCATGGCTTTGGTGCTCAAGAGCAGTTAACCGAGATGGATCTGTACCGGT > NC_002947/3377808‑3378056 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |