Predicted mutation | |||||||
---|---|---|---|---|---|---|---|
evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 5,452,350 | A→G | 7.1% | H294R (CAC→CGC) | lnt → | apolipoprotein N‑acyltransferase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 5,452,350 | 0 | A | G | 7.1% | 160.9 / 2.4 | 56 | H294R (CAC→CGC) | lnt | apolipoprotein N‑acyltransferase |
Reads supporting (aligned to +/- strand): ref base A (25/27); new base G (2/2); total (27/29) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.76e-01 |
ATCGACGCGCAACTGGCGCTATACCGCGACCTGAGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCACCTACCTCAAGCAGAAGCTGGTGCCATTTGGCGAGTATGTGCCGCTGCAAGAC > NC_002947/5452202‑5452498 | aTCGACGCGCAACTGGCGCTATACCGCGACCTGAGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCa > 5:99292/1‑149 (MQ=255) cGACGCGCAACTGGCGCTATACCGCGACCTGAGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACt > 2:267290/1‑149 (MQ=255) cgcAACTGGCGCTATACCGCGACCTGAGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGgcg < 6:246183/149‑1 (MQ=255) gcAACTGGCGCTATACCGCGACCTGAGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGTGGCGCTCGgcgg < 2:248982/149‑2 (MQ=255) ggCGCTATACCGCGACCTGAGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCa > 3:43902/1‑149 (MQ=255) gcgcTATACCGCGACCTGAGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCAc > 2:86921/1‑149 (MQ=255) gcTATACCGCGACCTGAGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACgg < 4:41647/149‑1 (MQ=255) gcTATACCGCGACCTGAGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACgg < 6:267975/149‑1 (MQ=255) taCCGCGACCTGAGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGt < 3:2570/149‑1 (MQ=255) ccGCGACCTGAGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGc < 1:267290/149‑1 (MQ=255) cgcgACCTGAGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACgg > 8:53597/1‑142 (MQ=255) cgcgACCTGAGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACgg < 7:53597/142‑1 (MQ=255) gcgcCCTGAGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATAACGGGCGTGACg > 5:138/1‑149 (MQ=255) gcgACCTGAGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCg > 5:103116/1‑149 (MQ=255) cgACCTGAGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCgg > 6:38547/1‑149 (MQ=255) gACCTGAGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGt < 4:108226/149‑1 (MQ=255) ccTGAGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGc < 5:158363/149‑1 (MQ=255) cTGAGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGTCGCTGATCACGGGCGTGCCGGTGCg > 7:140461/1‑149 (MQ=255) aGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGt < 6:99292/147‑1 (MQ=255) aGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTg < 6:103116/148‑1 (MQ=255) cAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTgaagaa < 1:86921/148‑1 (MQ=255) cAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTgaagaa < 7:191376/148‑1 (MQ=255) ccAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGcac > 1:233236/1‑149 (MQ=255) gctgGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTgaa < 8:48078/124‑1 (MQ=255) gctgGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTgaa > 7:48078/1‑124 (MQ=255) ctgGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGctacta < 5:38547/149‑1 (MQ=255) ctgGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGctac < 4:43902/147‑1 (MQ=255) cGGAAACCGCCGTGCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATc < 5:273802/149‑1 (MQ=255) acgccgTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCAACGt > 8:14125/2‑148 (MQ=255) cgTTCCGGTGCTCACGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTg < 7:14125/149‑1 (MQ=255) ccGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCg > 5:250864/1‑148 (MQ=255) ggTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGgcgc < 1:314502/71‑1 (MQ=255) ggTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGgcgc > 2:314502/1‑71 (MQ=255) gTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAgg < 3:226687/149‑1 (MQ=255) tCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGAc > 5:170269/1‑149 (MQ=255) cAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACg > 1:124056/1‑149 (MQ=255) caaGGCCCGGGGCTACATCGAAGTGATGTGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCacc > 7:57641/3‑148 (MQ=255) cAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCaccta > 4:57331/1‑149 (MQ=255) aGGCCCGGGGCTACATCGACGTTATGTGCCGATTAGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTTAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCacctac < 8:57641/149‑1 (MQ=255) gCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCacctacct > 1:153863/1‑149 (MQ=255) ccAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACGAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCACCTACCTc > 5:75755/1‑148 (MQ=255) ccAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCACCTACCTc > 5:255898/1‑148 (MQ=255) ccAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCACCTACCTc > 8:53088/1‑148 (MQ=255) gggCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCACCTACCTCAAGc < 3:57331/149‑1 (MQ=255) cGACGTCATGGGCCGCTTGGCGGCCGTGAGCGACTTGGCGCTGTTTACGGGCGTGCCGGTGCGTGATGAAGTGCACCACAATTGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCACCTACCTCAAGCAGAAGCTg < 1:276663/148‑1 (MQ=255) tGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCACCTACCTCAAGCAGAAGCTGGTGCCAttt < 8:140461/149‑1 (MQ=255) ggCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACGAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCACCTACCTCAAGCAGAAGCTGGTGCCATTTg < 6:75755/148‑1 (MQ=255) ccGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCACCTACCTCAAGCAGAAGCTGGTGCCATTTGGc > 7:149041/1‑148 (MQ=255) cGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCACCTACCTCAAGCAGAAGCTGGTGCCATTTGGCGa < 1:157364/149‑1 (MQ=255) cTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCACCTACCTCAAGCAGAAGCTGGTGCCATTTGGCGAGt < 6:250864/149‑1 (MQ=255) tcagcgccgAGTGGCGCTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCACCTACCTCAAGCAGAAGCTGGTGCCATTTGGCGAg > 8:70599/5‑146 (MQ=255) tcagcgccgAGTGGCGCTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCACCTACCTCAAGCAGAAGCTGGTGCCATTTGGCGAg < 7:70599/142‑1 (MQ=255) gcgccgAGTGGCGCTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCACCTACCTCAAGCAGAAGCTGGTGCCATTTGGCGAGTAtgtg > 2:47896/2‑149 (MQ=255) ccgccgAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCACCTACCTCAAGCAGAAGCTGGTGCCATTTGGCGAGTAtgtg > 6:196403/1‑149 (MQ=255) gcgcCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCACCTACCTCAAGCAGAAGCTGGTGCCATTTGGCGAGTATGTGCCGCTg > 5:29928/1‑148 (MQ=255) ccACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACgg > 2:282182/1‑96 (MQ=255) ccACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACgg < 1:282182/96‑1 (MQ=255) aCTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCACCTACCTCAAGCAGAAGCTGGTGCCATTTGGCGAGTATGTGCCGCTGCAAGAc < 6:255898/149‑1 (MQ=255) | ATCGACGCGCAACTGGCGCTATACCGCGACCTGAGCTTCAGCTCCAGGCCGGTGGACCTGCTGGTGTGGCCGGAAACCGCCGTTCCGGTGCTCAAGGACCAGGCCCAGGGCTACATCGACGTGATGGGCCGCTTCGCCGCCGAGCGCCACTCGGCGCTGATCACGGGCGTGCCGGTGCGTGAAGAAGTGCACCACCAGCGCCGCTACTACAACGGCATCACCGTCACTGGCGAAGGCGACGGCACCTACCTCAAGCAGAAGCTGGTGCCATTTGGCGAGTATGTGCCGCTGCAAGAC > NC_002947/5452202‑5452498 |
Alignment Legend |
---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |