Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 3,638,667 | C→A | 9.3% | H221Q (CAC→CAA) | PP_3205 → | fumarylacetoacetate hydrolase family protein |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 3,638,667 | 0 | C | A | 9.3% | 157.7 / 6.6 | 54 | H221Q (CAC→CAA) | PP_3205 | fumarylacetoacetate hydrolase family protein |
Reads supporting (aligned to +/- strand): ref base C (25/24); new base A (3/2); total (28/26) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 2.56e-01 |
CAGCCTGCGGGCCCTGGCACCGCGGGAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCACCGTGTCCAACGCCGAGC > NC_002947/3638520‑3638812 | cAGCCTGCGGGCCCTGGCACCGCGGGAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACg > 7:246615/1‑149 (MQ=255) aGCCTGCGGGCCCTGGCACCGCGGGAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGt > 5:164069/1‑149 (MQ=255) aGCCTGCGGGCCCTGGCACCGCGGGAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGt > 2:349816/1‑149 (MQ=255) aGCCTGCGGGCCCTGGCACCGCGGGAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACGTGCCGCGGCAAGt > 7:227803/1‑149 (MQ=255) cGGGCCCTGGCACCGCGGGAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACGTGCAGCGGCAAGTGCAc < 1:63426/147‑1 (MQ=255) cGGGCCCTGGCACCGCGGGAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACGTGCAGCGGCAAGTGCAc < 8:227803/147‑1 (MQ=255) gCCCTGGCACCGCGGGAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGaa > 3:108735/1‑149 (MQ=255) ccGCGGGAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTg < 8:327374/149‑1 (MQ=255) cgcgGGAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTgg < 2:274883/149‑1 (MQ=255) ggAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCg > 4:326442/1‑149 (MQ=255) gAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTCGTTCGGCCaac > 5:293742/1‑147 (MQ=255) aaGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATc < 6:192339/148‑1 (MQ=255) gACCGGCTTTGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATccc > 3:274244/1‑148 (MQ=255) gACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATcccc < 6:164069/149‑1 (MQ=255) cttcggcttTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATggcg > 8:12766/1‑149 (MQ=255) ggcttTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGGACTGGAACGGCGAGTGGTTCGGCCATCCCCATGgcggcg < 8:246615/148‑1 (MQ=255) gcttTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCgccgcc < 7:12766/149‑1 (MQ=255) ctcCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCa > 8:184575/1‑149 (MQ=255) tcCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATc > 1:97904/1‑129 (MQ=255) tcCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATc < 2:97904/129‑1 (MQ=255) tcCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCAc > 7:93542/1‑149 (MQ=255) tcCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGCCGCCATgg < 1:390348/147‑2 (MQ=255) tcCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGCCGCCATgg > 2:390348/1‑146 (MQ=255) ccAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGt > 1:350812/1‑149 (MQ=255) cccGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTcca < 7:184575/149‑1 (MQ=255) cGCCAGCAGTTTCGCGCCCGTTGCGGTCACACCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTccac > 8:254781/1‑148 (MQ=255) agcagTTTCGCGGCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGtt < 8:138051/149‑1 (MQ=255) tttCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTg < 3:326442/149‑1 (MQ=255) tttCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTg > 1:249990/1‑149 (MQ=255) cgcCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCAt > 7:348871/1‑149 (MQ=255) tCACCCCGGATGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTgacg < 8:243754/149‑1 (MQ=255) cccGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGGACTTCGGTTTCCACCAGTTGATTGCCCATGCTGCGCTgacgcgac < 2:350812/149‑1 (MQ=255) cccGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTgacgcgac > 6:74529/1‑149 (MQ=255) ggACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCt > 6:264396/1‑149 (MQ=255) ggACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCAGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCt > 1:235356/1‑149 (MQ=255) cGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGa < 4:274244/149‑1 (MQ=255) cGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGa < 2:249990/149‑1 (MQ=255) aCTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCCCCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTg > 8:95683/1‑149 (MQ=255) ggCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCAGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCgg < 2:235356/148‑1 (MQ=255) gCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGc < 8:93542/149‑1 (MQ=255) cTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTAc < 7:254781/149‑1 (MQ=255) cTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTAc > 2:274998/1‑149 (MQ=255) gcgcCGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGc < 1:349816/149‑1 (MQ=255) ttccagTGCACGTGCAGCGGCAAGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGc > 2:345635/6‑149 (MQ=255) ccGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCa > 1:300937/1‑149 (MQ=255) cGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCAc > 6:364102/1‑149 (MQ=255) gggTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCAcc < 5:364102/149‑1 (MQ=255) agTGCACGTGCAGCGGCAAGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCACCg > 5:320329/2‑149 (MQ=255) cACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCACCGTGTc < 3:193495/149‑1 (MQ=255) aCTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGATTGAGTGCGGGCACGCTACTGGGCTCCGGCACCGTGTc > 6:191710/1‑148 (MQ=255) ccGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACACGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCACCGTGTCCAACGc > 8:128417/1‑149 (MQ=255) cGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCTACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCACCGTGTCCAACGcc < 2:374751/149‑1 (MQ=255) cTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACACGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCACCGTGTCCAACGCCGa < 7:128417/149‑1 (MQ=255) cACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCACCGTGTCCAACGCCGAgc < 1:274998/148‑1 (MQ=255) | CAGCCTGCGGGCCCTGGCACCGCGGGAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCACCGTGTCCAACGCCGAGC > NC_002947/3638520‑3638812 |
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: ‑ |