Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 852,159 | A→T | 10.7% | Q313L (CAG→CTG) | hemA → | glutamyl‑tRNA reductase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 852,159 | 0 | A | T | 10.7% | 153.2 / 8.3 | 56 | Q313L (CAG→CTG) | hemA | glutamyl‑tRNA reductase |
Reads supporting (aligned to +/- strand): ref base A (31/19); new base T (3/3); total (34/22) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 6.70e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.83e-01 |
CTGAAACAGCGCCGACACAAGCCCATCTTCATGGTCGACATCGCTGTACCTCGCGATATCGAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATCGCCAGCAAAGTGAGCGCCTTCGCGACGAAGAACTGCAAAAGGCCTTG > NC_002947/852011‑852307 | cTGAAACAGCGCCGACACAAGCCCATCTTCATGGTCGACATCGCTGTACCTCGCGATATCGAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCa < 8:212683/149‑1 (MQ=255) aaCAGCGCCGACACAAGCCCATCTTCATGGTCGACATCGCTGTACCTCGCGATATCGAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGgc < 4:87439/149‑1 (MQ=255) cGACACAAGCCCATCTTCATGGTCGACATCGCTGTACCTCGCGATATCGAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGTCCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCa < 1:240849/149‑1 (MQ=255) caAGCCCATCTTCATGGTCGACATCGCTGTACCTCGCGATATCGAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCTGGGCCGCGCCCTggcgg < 4:142624/149‑1 (MQ=255) cATGGTCGACATCGCTGTACCTCGCGATATCGAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGc < 3:16473/146‑1 (MQ=255) aTGGTCGACATCGCTGTACCTCGCGATATCGAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTgg > 2:41634/1‑148 (MQ=255) cGACATCGCTGTACCTCGCGATATCGAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCTGGGCCGCGCCCTggcggct > 8:266807/1‑132 (MQ=255) cGACATCGCTGTACCTCGCGATATCGAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCTGGGCCGCGCCCTggcggct < 7:266807/133‑2 (MQ=255) gACATCGCTGTACCTCGCGATATCGAAACCGAAGTCGGCGAGCTGGATGATGTCTACCAGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGCGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGCTCTGGGATCCGt > 2:221231/1‑149 (MQ=255) aTCGCTGTACCTCGCGATATCGAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTggg > 4:304032/1‑149 (MQ=255) tGTACCTCGCGATATCGAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGcc > 7:220707/1‑148 (MQ=255) cTCGCGATATCGAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCTGGGCCGCGCCCTggcgg < 8:6023/117‑1 (MQ=255) cTCGCGATATCGAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCTGGGCCGCGCCCTggcgg > 7:6023/1‑117 (MQ=255) tCGCGATATCGAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACt > 2:93675/1‑149 (MQ=255) gcgATATCGAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTc < 3:90285/149‑1 (MQ=255) cGAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGgcg > 7:100213/1‑131 (MQ=255) cGAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGgcg > 7:95627/1‑131 (MQ=255) cGAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGgcg < 8:100213/131‑1 (MQ=255) cGAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGgcg < 8:95627/131‑1 (MQ=255) gAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCAtgctgc < 3:304032/148‑1 (MQ=255) gAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGctgcg > 3:292574/1‑149 (MQ=255) gCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTg > 1:196349/1‑149 (MQ=255) cGAGCTGGAGGATGTCTACCTGTACCCCGTCGACGACCTGCACGATGTAGTGGCTGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTgg < 1:221231/149‑1 (MQ=255) aGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCa > 2:172065/1‑126 (MQ=255) gatgatGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGctgcgcctgcg > 1:116634/1‑134 (MQ=255) gatgatGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGctgcgcctgcg < 2:116634/134‑1 (MQ=255) atgatgTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTg < 1:41634/149‑1 (MQ=255) tCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTg > 4:253798/1‑98 (MQ=255) ccTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTgg > 2:21567/1‑131 (MQ=255) ccTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTgg < 1:21567/131‑1 (MQ=255) ccTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCt > 8:299728/1‑147 (MQ=255) tACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAgg < 8:220707/147‑1 (MQ=255) tACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGc < 5:213104/149‑1 (MQ=255) acacCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGcc > 7:133462/1‑149 (MQ=255) acCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTa < 2:196349/149‑1 (MQ=255) gctCGACGACTTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATc < 7:263574/147‑1 (MQ=255) cGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATc > 8:294405/1‑149 (MQ=255) gacgacCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGgc < 2:32298/84‑1 (MQ=255) gacgacCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGgc > 1:32298/1‑84 (MQ=255) aCGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATCGCCAGCAAAGTGAg > 1:318277/1‑149 (MQ=255) aCGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATCGCCAGCAAAGTGAg > 3:241383/1‑149 (MQ=255) tAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATCGCCAGCAAAGTGAGCGCCtt > 8:80362/1‑149 (MQ=255) tGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATCGCCAGCAAAGTGAGCGCCTTcgc < 7:294405/149‑1 (MQ=255) ggCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATCGCCAGCAAAGTGAGCGCCTTcgc > 2:56274/1‑148 (MQ=255) gCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATCGCCAGCAAAGTGAGCGCCTTCgaga > 4:194190/1‑149 (MQ=255) ggAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATCGCCAGCAAAGTGAGCGCCTTCGcgac > 3:245037/1‑148 (MQ=255) aaaCCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATCGCCAGCAAAGTGAGCGCCTTCGcgacg > 4:116341/1‑146 (MQ=255) ccTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATCGCCAGCAAAGTGAGCGCCTTCGCGACGAAGAAc > 5:185918/1‑149 (MQ=255) ccTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATCGCCAGCAAAGTGAGCGCCTTCGCGACGAAGAAc > 5:181391/1‑149 (MQ=255) tCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATCGCCAGCAAAGTGAGCGCCTTCGCGACGAAGAACTg > 5:147667/1‑149 (MQ=255) cAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATCGCCAGCAAAGTGAGCGCCTTCGCGACGAAGAACTg > 1:176440/1‑148 (MQ=255) gagCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATCGCCAGCAAAGTGa > 6:221739/1‑123 (MQ=255) gagCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATCGCCAGCAAAGTGa < 5:221739/123‑1 (MQ=255) agCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATCGCCAGCAAAGTGAGCGCCTTCGCGACgaa > 8:103914/1‑138 (MQ=255) agCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATCGCCAGCAAAGTGAGCGCCTTCGCGACgaa < 7:103914/138‑1 (MQ=255) ccgccTGGGCCGCGCCCTGGCGGCCGAAGAGCTGGTATCCGTGGAGGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATCGCCAGCAAAGTGAGCGCCTTCGCGACGAAGAACTGCAAAAgg > 1:229553/1‑149 (MQ=255) cAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATCGCCAGCAAAGTGAGCGCCTTCGCGACGAAGAACTGCAAAAGGCCtt > 7:274739/1‑149 (MQ=255) aGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATCGCCAGCAAAGTGAGCGCCTTCGCGACGAAGAACTGCAAAAGGCCTTg < 7:299728/149‑1 (MQ=255) | CTGAAACAGCGCCGACACAAGCCCATCTTCATGGTCGACATCGCTGTACCTCGCGATATCGAAACCGAAGTCGGCGAGCTGGATGATGTCTACCTGTACACCGTCGACGACCTGCACGATGTAGTGGCGGAAAACCTCAAGAGCCGCCAGGGCGCGGCCCAGGCGGCCGAAGAGCTGGTATCCGTGGGCGCCGAAGACTTCATGCTGCGCCTGCGCGAACTGGCTGCAGTGGACGTGCTCAGGGCCTATCGCCAGCAAAGTGAGCGCCTTCGCGACGAAGAACTGCAAAAGGCCTTG > NC_002947/852011‑852307 |
Alignment Legend |
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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: ‑ |