Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | ACB143 | 4,277,029 | 0 | C | G | 30.0% | 61.6 / 10.1 | 45 | F279L (TTC→TTG) | hbd | 3‑hydroxybutyryl‑CoA dehydrogenase |
Reads supporting (aligned to +/- strand): ref base C (10/18); new base G (12/0); total (27/18) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.19e-04 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
Rejected as consensus: Frequency below/above cutoff threshold. |
TGATCGGCCTGGACACCCTGCTGGCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTG‑TGCCAACTTTGAGGAGCGACGT‑GACCGGGCCATGGCATTGTTTGCCGAAAAGGGCTTTGGCCAGGTCAGCATGC > ACB143/4276893‑4277156 | tGATCGGCCTGGACACCCTGCTGGCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTttc > 8:18306/1‑137 (MQ=255) ggCCTGGACACCCTGCTGGCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCAc < 3:279179/137‑1 (MQ=255) cgtgctgcCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGAAAATACCGCCCTGCTCCACTGCTCAAGTAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTgaggag < 6:270153/135‑1 (MQ=255) gctgGCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGACTGGCTGGGGCGCAAGAGCGGTCGCGGTTTATTGAACGACTGAGGAGCaa > 8:367990/1‑137 (MQ=255) tcttGGAGGCCTTCCACGAAGGCTTCAACGACAGAAAATACCGCCCTGCTCCAGTGCTCAAGTAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATg < 6:355464/134‑1 (MQ=255) aTGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTAACCGAATGTGGAGCAAGCGCCATGcc > 5:211860/1‑137 (MQ=255) cccTACCACCCAGGCTTCAACGACACCAAATCCCGCCCTGCGCCACTCCGCAAGGAAATGGCCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGt < 8:140679/136‑1 (MQ=255) ttCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTTGTAACCGACTGGGGTGCAAGCGCCATTCCCCCCGGCaa > 3:351754/1‑137 (MQ=255) aCGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTGACCTTCTGGGGAGCAAGCGCCAATCCCCCCGTCAATGcc > 8:146666/1‑137 (MQ=255) aCGAAGGCTGCAACGACAGAAAATCCCGCCCTGCTCCACTGCTCAAGGAACTGGGCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGTCAATGcc < 3:130372/137‑1 (MQ=255) cgcaGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTCGTAACCAACTGAGGCGCCAGACCCCTGCCCCCCGGCAATGccc > 5:332785/4‑136 (MQ=255) ggCTTCAACGACAGCAAATACCCCCCTGCTCCACTCCTCAAGCAACTGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGTCAATGCCGCAAt < 6:208590/137‑1 (MQ=255) gCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGTCAATGCCGCAATg < 1:8887/137‑1 (MQ=255) cTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCGACTGAGGAGCAAGCGCCCAGCCCCCGGGCAAAGCCGCAATgc > 4:307570/1‑137 (MQ=255) tCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTATTAACCAACATAGGAGCAAGCCCCATGCCCCCCGTCAAATCCGCCATgcgc > 2:213061/1‑137 (MQ=255) aaCGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCtg < 8:200647/137‑1 (MQ=255) cGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTCTTAACCAAATGTGGACCAAGCGACAAGCCCCCCGGCAATTCCGCAATTCGCtg‑tt > 8:333587/1‑136 (MQ=255) cGACAGCAAATACCGCCCTGCGCCACTGCTCACGGAAATGGGCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCtg‑tg < 4:51476/137‑1 (MQ=255) cAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTCTTGACCTACTGAGGAGCAAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTG‑TGCCAACt > 6:163418/1‑137 (MQ=255) gCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGGTGTTGACCTACTGAGGAGCCACCCCCAAGCCCCCGGGGGATGCCGCCAAGCGCGG‑TGGCCACATTgtggag > 1:309617/1‑137 (MQ=255) cccTGCTCGAGTCCTCAAGTATTGGGGCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTG‑TGCCAACTTTGAGGAGc < 5:251486/137‑1 (MQ=255) cTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTGACCTACTGAGGCGCAAGCGCCCTGCCCCCCGGCAATGCCGCCATGCGCGG‑GGGCCACGTTGTGGAGCgc > 4:45852/1‑136 (MQ=255) cTCCAGTGCTCAAGAAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTG‑TGCCAACTTTGAGGAGCGACGt < 1:1240/137‑1 (MQ=255) cACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTGACCTACTGAGGAGCAAGCGCCCTGCCCCCCGGCAATGCCGCAATGCGCTG‑TGGCAACATTGAGGAGCGACGT‑Gaa > 4:153482/1‑136 (MQ=255) aCTGCTCCAGGAAATGGGCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTG‑TGCCAACTTTGAGGAGCGACGT‑GAcc < 8:261906/137‑1 (MQ=255) ccTCAAGGAAATGGGCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTG‑TGCCAACTTTGAGGAGCGACGT‑GACCggg < 6:45414/136‑1 (MQ=255) cTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTGTTAACCTACTGAGGAGCAAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTG‑TGCCAACTTTGAGGAGCGACGT‑GACCCGGc > 2:103397/1‑137 (MQ=255) cTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTCTTACACGACTGAGGAGCAAGCCCCAAGCCCCCCGTAAATGCCGCAAAGCGCGG‑GTCCAACATTGAGGAGCGACGT‑GACCgggg > 7:95686/1‑136 (MQ=255) aaGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGTCAATTCCGCAATGCGCGG‑TGCCAAATTTGAGGAGCGACGT‑GCCCGGGCCAt > 8:117385/1‑137 (MQ=255) aaGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTTTTCACCTAAAGAGGCGCAAGCGCCATGCCCCCCGGCAATTCCGCAATGCGGGG‑TGGCAACATTTGGGCGCGACGT‑GACCGGGCCaa > 6:118166/1‑136 (MQ=255) aaGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTCTTGACCGACTGAGGAGGAAGCGCCCTGCCCCCCGTCAAAGCCGCAATGCGCTG‑TGGCAACTTTTAGGAGCGCCCT‑GACCGGGccca > 8:34223/1‑135 (MQ=255) ggAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCCCCATGCCCCCGGGCAATGCCGCAAAGCGCTG‑TGCCAACTTTGAGGAGCGACGT‑GACCGGGCCATgg > 5:160784/1‑137 (MQ=255) ggAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCCACAGAGGAGCAACCCCCAATCCCCCCGTGAAATCCCCAAATCGCTG‑TGCCCAATTTGAGGAGCGACGT‑GACCGGGCCAttg > 4:33383/1‑135 (MQ=255) ggAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGGTGTTCACCGACGGAGGCGCGACCCCCCAGCCCCCCGGCACTGCCGCCACTCGCGG‑GGGCACCGTTTAGGGGCGACGTGGCCCGGGCCagg > 2:191150/1‑135 (MQ=255) ggAAATGGTCGCGGCAGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTCACCAAATTAGGAGCAAGCCCCATGCCCCCCGGAAAATCCGCAAAGCGCAGTTCCCAACTTT‑ATGAGCGACGG‑GACCGGGGCATgg > 8:357634/1‑137 (MQ=255) tCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTTTTGACCGAATGAGGGGCAAGCGCCCTGCCCCCCGGGAATGGCCCAATGCGCGG‑GGGCAAAGTTGAGGAGCGACCT‑GGCCCGGCCATGGCAATGgtt > 6:40418/1‑137 (MQ=255) tCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTGCCCCTCGGTGGGGGAAGCGCCCTGCCCCCCGGCCAAGCCGCAATGCGGGG‑TGGCCACATTGAGGGGCGGCCT‑GACCGGGCCATGGGAATGttt > 2:257240/1‑137 (MQ=255) tCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTCACCTACTGAGGAGCAAGCGCCAAGCCCCCGGGCAATGCCGCCATGCGCTG‑TGGCAAAGTTGAGGCGCGACGT‑GGCCGGGCCCTGGGATTGgtt > 7:290164/1‑137 (MQ=255) tCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGGTGACCTACTGAGGATCAAGCGCCAATACCCCCGTCCATGCCGCCCAGAGCTG‑TGGCAACTATTAGGAGCGACGT‑GGACGGGCCATGGCCtttttt > 4:359625/1‑137 (MQ=255) cggccggcTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCGCCGACTGAGGAGCAACCGCCATGCCCCCCGGCAATGCCCCAATGCGCGG‑TGCCAACTTTGTGGAGCGCCGG‑TACCGGGCCCTGGGATTGTTTGcc > 8:129339/1‑137 (MQ=255) gccggcTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTG‑TGCCAACTTTGAGGAGCGACGT‑GACCGGGCCATGGCATTGTTTGCCGa < 2:282119/137‑1 (MQ=255) gtggctggGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTG‑TGCCAACTTTGAGGAGCGACGT‑GACCGGGCCATGGCATTGTTTGCCGAAAAgg < 7:129339/136‑1 (MQ=255) ctggctggGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTG‑TGCCAACTTTGAGGAGCGACGT‑GACCGGGCCATGGCATTGTTTGCCGAAAAgg < 7:18306/137‑1 (MQ=255) ggggCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTG‑TGCCAACTTTGAGGAGCGACGT‑GACCGGGCCATGGCATTGATTGCCGAAAAGGGCTTTg < 7:54956/137‑1 (MQ=255) cgcAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGCCAATGCCGCAATGCGCTG‑TGCCAACTTTGAGGAGCGACGT‑GACCGGGCCATGGCATTGTTTGCCGAAAAGGGCTTTGGCCa < 1:197281/137‑1 (MQ=255) tCGCGGGTTGTTGACCTACTGAGGGGCAAGCGCCAAGCCCCCCGTCAATTCCGCAATGCGCGG‑TGCCCACGTTGAGGAGCGCCGT‑GACCGGGCCATGGGATTGTTTGGCGAAAAGGGCTTTGGCCAGGTCAGCATgc > 4:131381/1‑137 (MQ=255) | TGATCGGCCTGGACACCCTGCTGGCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGCAAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTG‑TGCCAACTTTGAGGAGCGACGT‑GACCGGGCCATGGCATTGTTTGCCGAAAAGGGCTTTGGCCAGGTCAGCATGC > ACB143/4276893‑4277156 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 15 ≤ ATCG/ATCG < 21 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |