| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | ACB122 | 4,277,043 | T→G | 36.0% | G278G (GGT→GGG) | hbd → | 3‑hydroxybutyryl‑CoA dehydrogenase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | ACB122 | 4,277,043 | 0 | T | G | 36.0% | 44.5 / 12.6 | 40 | G278G (GGT→GGG) | hbd | 3‑hydroxybutyryl‑CoA dehydrogenase |
| Reads supporting (aligned to +/- strand): ref base T (4/21); new base G (13/2); total (17/23) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 2.76e-05 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
CGGCCTGGACACCCTGCTGGCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGT‑CAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGTTTGCCGAAAAGGGCTTTGGC > ACB122/4276914‑4277160 | gggCCTGGACACCGTGGTGCAATTCTTGGCGGCCTACCACGCTGGCTTAAACGACAGAAAATCCCGCCCGGCTCCAGTGCTCAAGTAAATGGCCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTttctt < 2:75000/134‑1 (MQ=255)cGGCCTGGACACCCTGCTGGCAAGCAGGGCGCCCTTCCACGAGGGCTCAAACGACAGAAAATACCGCCCTGCGCCACTGCCCAAGTAATTGGCCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTttctt < 7:413453/135‑1 (MQ=255) ggACACCCTGCTGGCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTGACCTa > 3:439592/1‑135 (MQ=255) gctgGCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGGTCACCAAAAgaggag > 3:456306/1‑134 (MQ=255) ctgGCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTCTTCACCGACTGAGGAGCa > 8:288753/1‑135 (MQ=255) aaaTCATGCAGCCCTCCCACTACGGCTACAACGACAGCAAATCCCCCCCGGCGCCACTGCTCAAGCAATTGGACGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAgcg < 2:8479/134‑1 (MQ=255) agggcggCCTGCCAGGACGGCTTCAACGACAGAAAATCCCGCCCTGCTCCACTGCTCAAGGAAAGGGGCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATg < 7:45070/130‑1 (MQ=255) aTGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGGTGGCCGACTGAGGAGCAAGCGcccag > 2:250441/1‑132 (MQ=255) aTGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGGTGTTAACCAACTGAGGCGCAAGCGCCATg > 8:317515/1‑135 (MQ=255) ggAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGcc > 4:460412/1‑135 (MQ=255) ggAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTCTTCACCAACTGAGGCGCAAGCGCCCTGcc > 4:126513/1‑135 (MQ=255) ggCCTGCCACGACGGCTGCAACGACAGCAAATACCGCCCGGCGCCACTGCTCACGGAAAGGGGCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGccccc < 5:210676/135‑1 (MQ=255) ttCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTGCTTGCCCGACGGAGGAGCCAGCGCCATGCCCCCggg > 6:193257/1‑133 (MQ=255) acccaaGGCTCAAACCACACAAAATACCGCCATCCACCCCGGCCCAAGCAACGGCCCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGT‑Ca < 2:332824/129‑1 (MQ=255) aCGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGGTGTTCACCTACAGCGGCGCAAGCGCCATGCCCCCCGG‑CAATg > 3:237349/1‑135 (MQ=255) ttCAACGAAAGCAAAACCCGCCCTGCTCCACTGCTCAAGTAAATGGGCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGT‑CAATGCCGCAATg < 7:164912/135‑1 (MQ=255) tccAACGACAGCAAATCCCGCCCTCCCCCACGGCTCAAGCAACGGGGCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGT‑CAATGCCGCAATg < 7:306118/133‑1 (MQ=255) cGACAGCAAATCCCGCCCTGCTCCCCTGCTCAAGGAAATGGCCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGT‑CAATGCCGCAATGCGCtg < 6:173889/135‑1 (MQ=255) cAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTTTTGACCAACTGAGGGGCAAACCCCCAGCCCCCCGG‑CAAAGCCCCCAAGCGCggtggcc > 1:375666/1‑131 (MQ=255) cAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTTACCGACTGAGGTGCCAGCGCCAAGACCCCCGG‑CAATGCCGCCATGCGCtgtggcc > 7:248168/1‑131 (MQ=255) aaaTACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCGTCACCGACTGGGGAGCAAGCCCCAAGCCCCCGCT‑CAATGCCCCAATGCGCGGTGCCAAc > 4:217807/1‑135 (MQ=255) ccTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTGTTCACCGACTGAGGAGCAATCGCCCAGCCCCCGGG‑CCATGCCGCAATTCGGGGTGGCAACGTTgaggcg > 8:343723/1‑133 (MQ=255) ccTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTGTTAACCTACTGAGGAGCAATCGGCAACCCCCCGGTCCAATGCC‑CAAAGAGCTGTGCCAACTTTggggag > 4:286015/1‑135 (MQ=255) cTGCTCCACTCCTCACGGAAATGGGCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGT‑CAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGc < 1:124276/135‑1 (MQ=255) ccACCGCCCACGGAAAGGGGCGCGGCCGGCTGGCGGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGT‑CAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGt < 8:184564/135‑1 (MQ=255) aCTGCTCAAGGAAATGTGCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTCTTCACCTACTGAGGATCAAGCGCCATGCCCCCGGT‑CAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGt < 2:75/133‑1 (MQ=255) aCTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGT‑CAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGt < 6:176942/133‑1 (MQ=255) tCAAGGAAAGGGGCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGT‑CAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCggg < 8:362939/135‑1 (MQ=255) tCAAGGAAAGGGCCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGT‑CAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCggg < 6:110308/135‑1 (MQ=255) ccAAGCAAAGGGCCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGT‑CAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCggg < 1:250441/134‑1 (MQ=255) tCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTGCCCGACTGAGGGGCAAGCGCCATGCCCCCCGG‑CAATGCCGCAATGCGGGGTGCCCACTTTGAGGCGCGCCGTGACCGGGCCATGGCATTGt > 7:300497/1‑135 (MQ=255) tCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTGACCTACGGAGGGGCCAGCGCCCAGCCCCCCGG‑CAAAGCCGCCATGGGGGGTGCCCACCTTGGGGGGCGCCGGGGCCGGGCCATgggcttgg > 4:68344/1‑129 (MQ=255) ccggcTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTGAACGACGGTGGCGCCAGCGCCCAGCCCCCCGT‑CACAGCCCCCATGCGCGGTGCCCCCAGTTGGGAGGGGCGTGACCCGGGCCTGGCCTTGgtttga > 6:425446/1‑131 (MQ=255) gggctggctGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGT‑CAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGATTGCCGa < 3:251559/134‑1 (MQ=255) ggctggGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCTGT‑CAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGTTTGCCGAAAAgg < 5:206641/135‑1 (MQ=255) ctggGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGT‑CAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGTTTGCCGAAAAgg < 3:460412/133‑1 (MQ=255) ctggGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGT‑CAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGTTTGCCGAAAAgg < 1:23160/133‑1 (MQ=255) gggCGCAAGAGCGGTCGCGGGTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGT‑CAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGTTTGCCGAAAAGGGCttt < 5:85246/135‑1 (MQ=255) ggCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGT‑CAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGTTTGCCGAAAAGGGCttt < 8:248168/134‑1 (MQ=255) cgcAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGT‑CAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGTTTGCCGAAAAGGGCTTTGGc < 6:13214/135‑1 (MQ=255) | CGGCCTGGACACCCTGCTGGCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGT‑CAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGTTTGCCGAAAAGGGCTTTGGC > ACB122/4276914‑4277160 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 15 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |