Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 3,638,710 | 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 | 3,638,710 | 0 | C | A | 9.3% | 160.2 / 5.3 | 54 | H221Q (CAC→CAA) | PP_3205 | fumarylacetoacetate hydrolase family protein |
Reads supporting (aligned to +/- strand): ref base C (24/25); new base A (3/2); total (27/27) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.73e-01 |
GGGCCCTGGCACCGCGGGAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCACCGTGTCCAACGCCGAGC > NC_002947/3638571‑3638855 | gggCCCTGGCACCGCGGGAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGa > 2:1422728/1‑150 (MQ=255) gCCCTGGCACCGCGGGAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAAc > 1:599731/1‑150 (MQ=255) cTGGCACCGCGGGAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACGTGCAGCGGCAAGTGCAc < 2:882765/141‑1 (MQ=255) cTGGCACCGCGGGAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGAGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACGTGCAGCGGCAAGTGCAc > 1:882765/1‑141 (MQ=255) tGGCACCGCGGGAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCg > 2:325032/1‑150 (MQ=255) ggCACCGCGGGAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGa < 1:974232/150‑1 (MQ=255) gCACCGCGGGAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCAAGGCCTGGCGCGACGGCCAGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAg < 2:241572/150‑1 (MQ=255) ccGCGGGAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACACCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTgg > 2:1213642/1‑150 (MQ=255) gggAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCg < 2:457017/150‑1 (MQ=255) aCCGGCTTCGGCTTTCTCCAGACAAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCAt < 2:330457/150‑1 (MQ=255) ccGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATcccatca < 1:1119505/150‑5 (MQ=255) gcttcggcttTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGGGTGGCGCGACGGCTGGGGGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATggcg < 1:531335/150‑1 (MQ=255) gcttTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGaa < 1:1418496/115‑1 (MQ=255) gcttTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGaa > 2:1418496/1‑115 (MQ=255) tttCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATg > 1:66766/1‑150 (MQ=255) tttCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGCCGCCATg < 1:826790/150‑1 (MQ=255) ttCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAAAGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGc < 2:575801/150‑1 (MQ=255) tcCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGACCATCCCCATGGCGGCGCCGTGCACt > 1:778119/1‑150 (MQ=255) cAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTc < 1:96879/150‑1 (MQ=255) aGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCg > 2:920986/1‑150 (MQ=255) aGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCg < 2:357076/150‑1 (MQ=255) cagcagTTTCGCGCTCGTTGCGGGCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGtt < 2:442299/150‑1 (MQ=255) tttCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATCGc < 1:1422728/150‑1 (MQ=255) cccGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATgcg > 2:195216/1‑150 (MQ=255) cccGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTgacgcgacg > 2:1385521/1‑150 (MQ=255) cGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCt > 1:919583/1‑150 (MQ=255) cGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCt > 2:835580/1‑150 (MQ=255) ggACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCtt < 2:599731/150‑1 (MQ=255) tCGGCGCGGCTTGGTGCGACGGCCAGGTGCACTTGCCGCTGCGCGTGCACTGGAAAGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGGCGCTTTAGTGCgg > 2:418592/1‑150 (MQ=255) tCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCgg > 2:403147/1‑150 (MQ=255) tCGGCGAGGCCTGGCGAGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTccacc < 2:335580/108‑1 (MQ=255) tCGGCGAGGCCTGGCGAGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTccacc > 1:335580/1‑108 (MQ=255) gCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCa < 1:195216/150‑1 (MQ=255) gCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTgacgcgac > 2:1266201/1‑130 (MQ=255) gCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTgacgcgac < 1:1266201/130‑1 (MQ=255) gCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTa > 2:406484/1‑150 (MQ=255) ccGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCAc > 2:994739/1‑150 (MQ=255) cGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAg < 2:1343457/87‑1 (MQ=255) cGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAg > 1:1343457/1‑87 (MQ=255) gggTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGcc > 1:768583/1‑65 (MQ=255) gggTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGcc < 2:768583/65‑1 (MQ=255) ggTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCACCgt < 1:835580/150‑1 (MQ=255) agTGCACGTGCAGCGGCAAGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCACCgt > 2:1306168/2‑150 (MQ=255) gTGCACGTGCAGCGGCAAGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCACCgt > 1:338134/1‑149 (MQ=255) gTGCACGTGCAGCGGCAAGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCACCgt < 2:338134/149‑1 (MQ=255) ttGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCACCGTGTCCAAc < 1:1213642/150‑1 (MQ=255) gCCGCTGCACGTGCACTTGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTgacgcgac < 1:379930/104‑1 (MQ=255) gCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTgacgcgac > 2:379930/1‑104 (MQ=255) cGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGa > 2:284192/1‑108 (MQ=255) cGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGa < 1:284192/108‑1 (MQ=255) cGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACAAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCACCGTGTCCAACGCCg > 1:96494/1‑150 (MQ=255) cTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCACCGTGTCCAACGCCGAg > 1:1253051/1‑150 (MQ=255) tGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCACCGTGTCCAACGCCGAgc < 1:994739/150‑1 (MQ=255) tGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCACCGTGTCCAACGCCGAgc < 1:420327/150‑1 (MQ=255) | GGGCCCTGGCACCGCGGGAAATGAAGACCGGCTTCGGCTTTCTCCAGGCCAAGCCCGCCAGCAGTTTCGCGCCCGTTGCGGTCACCCCGGACGAACTCGGCGAGGCCTGGCGCGACGGCCGGGTGCACTTGCCGCTGCACGTGCACTGGAACGGCGAGTGGTTCGGCCATCCCCATGGCGGCGCCATGCACTTCGGTTTCCACCAGTTGATTGCCCATGCGGCGCTGACGCGACGCTTGAGTGCGGGCACGCTACTGGGCTCCGGCACCGTGTCCAACGCCGAGC > NC_002947/3638571‑3638855 |
Alignment Legend |
---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |