Predicted mutation | |||||||
---|---|---|---|---|---|---|---|
evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 4,573,450 | C→T | 7.3% | A41V (GCC→GTC) | glgX → | glycogen debranching enzyme |
Read alignment evidence... | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 4,573,450 | 0 | C | T | 7.3% | 161.5 / 2.6 | 55 | A41V (GCC→GTC) | glgX | glycogen debranching enzyme |
Reads supporting (aligned to +/- strand): ref base C (26/25); new base T (2/2); total (28/27) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.75e-01 |
TTCCATCACGGCCACTCGAGGATCGTCATGAGCCCCCGCACCCCAAAGAAAACCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATAGAGCTGCCCGAATACACCGATGAGATCTACCATGGCTACCTCCCGGACGCTCACCCCGGCCTGGTCTATGGCTACCGG > NC_002947/4573302‑4573592 | ttCCATCACGGCCACTCGAGGATCGTCATGAGCCCCCGCACCCCAAAGAAAACCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGc > 3:289768/1‑149 (MQ=255) cTCGAGGATCGTCATGAGCCCCCGCACCCCAAAGAAAACCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAgg < 5:199845/149‑1 (MQ=255) gAGGATCGTCATGAGCCCCCGCACCCCAAAGAAAACCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTc > 3:334251/1‑148 (MQ=255) gAGGATCGTCATGAGCCCCCGCACCCCAAACAAAACCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCg > 1:206459/1‑149 (MQ=255) aTCGTCATGAGCCCCCGCACCCCAAAGAAAACCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCt < 2:47098/149‑1 (MQ=255) gTCATGAGCCCCCGCACCCCAAAGAAAACCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCtgt < 4:334251/148‑1 (MQ=255) tCATGAGCCCCCGCACCCCAAAGAAAACCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCaa > 4:160448/1‑136 (MQ=255) tCATGAGCCCCCGCACCCCAAAGAAAACCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCaa < 3:160448/136‑1 (MQ=255) tCATGAGCCCCCGCACCCCAAAGAAAACCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGc < 5:124238/149‑1 (MQ=255) ccccGCACCCCAAAGAAAACCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGc > 6:199540/1‑141 (MQ=255) ccccGCACCCCAAAGAAAACCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGc < 5:199540/141‑1 (MQ=255) ccGCACCCCAAAGAAAACCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACt < 2:206459/149‑1 (MQ=255) cACCCCAAAGAAAACCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCa < 4:219548/149‑1 (MQ=255) cccAAAGAAAACCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGTCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCg > 4:305379/1‑149 (MQ=255) cccAAAGAAAACCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGTCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCg > 4:300482/1‑149 (MQ=255) cAAAGAAAACCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGc > 1:244469/1‑149 (MQ=255) cAAAGAAAACCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGc > 5:295629/1‑149 (MQ=255) aaaGAAAACCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCg > 4:117338/1‑149 (MQ=255) aCCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAgg > 7:174050/1‑148 (MQ=255) aCCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAgg > 1:336672/1‑148 (MQ=255) aCCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAgg > 1:331316/1‑148 (MQ=255) gCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGt > 3:166383/1‑109 (MQ=255) gCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGt < 4:166383/109‑1 (MQ=255) ggTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCt > 8:331975/1‑117 (MQ=255) ggTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCt < 7:331975/117‑1 (MQ=255) tgccttCGCGAATGCGCGATGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGa > 3:151433/6‑142 (MQ=255) tgccttCGCGAATGCGCGATGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGa < 4:151433/137‑1 (MQ=255) cACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATa < 2:244469/149‑1 (MQ=255) cACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATa < 6:295629/149‑1 (MQ=255) cATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGTCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATagag < 3:305379/149‑1 (MQ=255) cATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGTCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATagag < 3:300482/149‑1 (MQ=255) gcgAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAg < 8:25703/119‑1 (MQ=255) gcgAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAg > 7:25703/1‑119 (MQ=255) gcgAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGCGCGCATAGAGCTGCCCGaaaa > 8:53679/1‑146 (MQ=255) cgAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATAGAGCTGCCCGAATaca < 8:174050/149‑1 (MQ=255) cgAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATAGAGCTGCCCGAATaca < 2:336672/149‑1 (MQ=255) cgAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATAGAGCTGCCCGAATaca < 2:331316/149‑1 (MQ=255) aTGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTACTCGGCCACCGCCACCAAGGTCGAGCTGTGCCAGTTCGACTCCACCGCCGAGCAGGAACTCGAGCGCATAGAGCTGCCCGAATACCCCGATga > 3:170425/1‑149 (MQ=255) ccTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGtt < 1:24119/88‑1 (MQ=255) ccTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGtt > 2:24119/1‑88 (MQ=255) ccTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATAGAGCTGCCCGaa > 1:170528/1‑134 (MQ=255) ccTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATAGAGCTGCCCGaa < 2:170528/134‑1 (MQ=255) ccccTCGGCGCCACCTGGGATGGCGTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATAGAGCTGCCCGAATACACCGATGAGATCTACCa < 4:289768/149‑1 (MQ=255) ccTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGaa > 4:35421/1‑103 (MQ=255) ccTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGaa < 3:35421/103‑1 (MQ=255) gggATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATAGAGCTGCCGGAATACACCGATGAGATCTACCATGGCTACCTCCCGGAc > 2:314752/1‑149 (MQ=255) ggATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATAGAGCTGCCTGAATACACCGATGAGATCTACCATGGCTACCTCCCGGAc < 1:314752/148‑1 (MQ=255) gTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATAGAGCTGCCCGAATACACCGATGAGATCTACCATGGCTACCTCCCGGACGCTCACCCCGGCCt > 2:105452/1‑149 (MQ=255) aaCTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATAGAGCTGCCCGAATACACCGATGAGATCTACCATGGCTACCTCCCGGACGCTCAc < 7:124439/138‑1 (MQ=255) aaCTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATAGAGCTGCCCGAATACACCGATGAGATCTACCATGGCTACCTCCCGGACGCTCAc > 8:124439/1‑138 (MQ=255) aaCTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATAGAGCTGCCCGAATACACCGATGAGATCTACCATGGCTACCTCCCGGACGCTCACCCCGGCCTGGt > 1:136820/1‑149 (MQ=255) ttCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATAGAGCTGCCCGAATACACCGATGAGATCTACCATGGCTACCTCCCGGACGCTCACCCCGGCCTGGTCTa > 2:80809/1‑149 (MQ=255) tctctTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATAGAGCTGCCCGAATACACCGATGAGATCTACCATGGCTACCTCCCGGACGCTCACCCCGGCCTGGTCTAt < 4:39985/145‑1 (MQ=255) tctctTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATAGAGCTGCCCGAATACACCGATGAGATCTACCATGGCTACCTCCCGGACGCTCACCCCGGCCTGGTCTAt > 3:39985/1‑145 (MQ=255) tctcGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATAGAGCTGCCCGAATACACCGATGAGATCTACCATGGCTACCTCCCGGACGCTCACCCCGGCCTGGTCTATGGCTACCgg > 2:223035/1‑149 (MQ=255) gtcGGCCAACGCCACCCAGGTCCTGGTTTGCCTGTTTGTCTCCAACGGCCCGGATGTACTCGAGCGCCTTGAGCTGCCCGACTACACCGATGAGATCTTCCATGGCTACCTCCCGGACGCTTACCACGGCCTGGTCTATGGCTACCgg < 7:53679/147‑1 (MQ=255) | TTCCATCACGGCCACTCGAGGATCGTCATGAGCCCCCGCACCCCAAAGAAAACCCGCTCGGTCGCACCATCGCGCATTCGCGAAGGCATGCCCTTCCCCCTCGGCGCCACCTGGGATGGCCTTGGGGTCAACTTCGCTCTCTTCTCGGCCAACGCCACCAAGGTCGAGCTGTGCCTGTTCGACTCCACCGGCGAGCAGGAACTCGAGCGCATAGAGCTGCCCGAATACACCGATGAGATCTACCATGGCTACCTCCCGGACGCTCACCCCGGCCTGGTCTATGGCTACCGG > NC_002947/4573302‑4573592 |
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: ‑ |