Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 3,920,317 | C→T | 8.2% | R498Q (CGG→CAG) | acs ← | acyl‑CoA synthetase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 3,920,317 | 0 | C | T | 8.2% | 135.3 / 3.1 | 49 | R498Q (CGG→CAG) | acs | acyl‑CoA synthetase |
Reads supporting (aligned to +/- strand): ref base C (21/24); new base T (2/2); total (23/26) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.78e-01 |
CATCCGGAATTTCTGCACCTTGCCCGTCACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGTTCTCGCCGCCGCGAATGATCATG > NC_002947/3920172‑3920454 | caccggaaaTTTCGGCACTTGGCCGGCCACCGTCACGGGGACCCCGTCGACAAAACGGAAATCCCGGGGCACCTTGAAGGGC‑CAATTCTTGGCTCCCACCCACGCCCGCACCTCTACCCCACGGCAAGCATGCCCCGGGGGCAGCCGCAc < 2:315098/143‑1 (MQ=255) aTTTCTGCACCTTGCCCGTCACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCa > 1:62603/1‑150 (MQ=255) tCTGCACCTTGCCCGTCACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGa < 1:59146/150‑1 (MQ=255) cTGCACCTTGCCCGTCACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGAt > 2:344288/1‑150 (MQ=255) tGCACCTTGCCCGTCACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGTGGCACCTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGAtc > 2:1268638/1‑150 (MQ=255) cACCTTGCCCGTCACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGAtctc < 1:1129097/150‑1 (MQ=255) ccTTGCCCGTCACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCtt < 1:420560/150‑1 (MQ=255) cTTGCCCGTAACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTc < 1:1270986/150‑1 (MQ=255) tGCCCGTCACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCAc < 2:458302/150‑1 (MQ=255) ccgtcaccgtcaTCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGt > 1:771101/1‑150 (MQ=255) cgtcaTCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACGTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTGCCTCACTGACAGCATGCCCCGGCCATGGCCGCACCCAGGCCACGATCTCTTCACCGTACTtgct > 1:391959/1‑150 (MQ=255) tcaTCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCGGCTGCAcccgggg > 1:432026/1‑120 (MQ=255) tcaTCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCGGCTGCACCCgggg < 2:432026/124‑2 (MQ=255) aTCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAg < 1:194121/150‑1 (MQ=255) gAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCAc > 2:1188927/1‑150 (MQ=255) cAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCt < 2:1101953/150‑1 (MQ=255) aaCGGAAATACCGTGGCACCTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGc > 2:53735/1‑134 (MQ=255) aaCCGAAATACCGGGGCACCTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGc < 1:53735/134‑1 (MQ=255) gggCACCTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCAccgc < 1:344288/150‑1 (MQ=255) ggCACCTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCTCCTGCACATCGGCCAccgcc < 2:54952/150‑1 (MQ=255) cTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCgggtg < 1:1188927/150‑1 (MQ=255) ttGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCgggtgg < 1:401700/150‑1 (MQ=255) ttGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCgggtgg > 1:739973/1‑150 (MQ=255) aaGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCAc < 1:1152684/113‑1 (MQ=255) aaGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCAc > 2:1152684/1‑113 (MQ=255) cgcAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTgaagaa > 2:844108/1‑150 (MQ=255) gcAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTgaa < 2:963915/146‑1 (MQ=255) gcAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTgaa > 1:963915/1‑146 (MQ=255) t‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCGTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAActcctc < 2:62603/150‑1 (MQ=255) cGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTc < 1:844108/150‑1 (MQ=255) cTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCgg < 1:480288/150‑1 (MQ=255) aCGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCa < 1:220736/78‑1 (MQ=255) aCGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCa > 2:220736/1‑78 (MQ=255) aCGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCgg < 2:716194/147‑1 (MQ=255) aCGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCgg > 1:716194/1‑147 (MQ=255) cAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAAt < 2:205421/150‑1 (MQ=255) ctctACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGtt > 2:817507/1‑150 (MQ=255) ccTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAg > 2:859459/1‑68 (MQ=255) ccTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAg < 1:859459/68‑1 (MQ=255) cTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGTTCTcgcc > 1:293487/1‑150 (MQ=255) cTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGTTCTcgcc > 1:960893/1‑150 (MQ=255) tCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAActcc > 1:1146709/1‑120 (MQ=255) tCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAActcc < 2:1146709/120‑1 (MQ=255) cACTGACAGCATGCCACGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGTTCTcgccgc > 1:834608/1‑150 (MQ=255) gcctgggTGCGGCTGCACCCGGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGtt > 1:1086141/5‑129 (MQ=37) gcctgggTGCGGCTGCACCCGGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGtt < 2:1086141/125‑1 (MQ=37) cccGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGTTCTCGCCGCCGCGCGTGATCATg > 1:380002/1‑150 (MQ=255) gCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATc > 2:578252/1‑56 (MQ=255) gCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATc < 1:578252/56‑1 (MQ=255) | CATCCGGAATTTCTGCACCTTGCCCGTCACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTT‑GCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGTTCTCGCCGCCGCGAATGATCATG > NC_002947/3920172‑3920454 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |