Predicted mutation | |||||||
---|---|---|---|---|---|---|---|
evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 3,192,545 | T→C | 7.1% | S306G (AGC→GGC) | prr ← | gamma‑aminobutyraldehyde dehydrogenase |
Read alignment evidence... | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 3,192,545 | 0 | T | C | 7.1% | 159.9 / 2.7 | 56 | S306G (AGC→GGC) | prr | gamma‑aminobutyraldehyde dehydrogenase |
Reads supporting (aligned to +/- strand): ref base T (28/24); new base C (2/2); total (30/26) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.97e-01 |
GGCGCGCTTGCCGCCCGTGACGACCTCTATATGGGGCTGCTCCCTGGCCCGGTTGACGAAGCCCTCGACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCGGCGTTGTAAAAGCCGAAGGCGCGAATGCCCTCGACGGCGGCGTCGATGTCGGCATCGTC > NC_002947/3192402‑3192692 | ggcgCGCTTGCCGCCCGTGACGACCTCTATATGGGGCTGCTCCCTGGCCCGGTTGACGAAGCCCTCGACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGaca < 3:115524/149‑1 (MQ=255) ggcgCGCTTGCCGCCCGTGACGACCTCTATATGGGGCTGCTCCCTGGCCCGGTTGACGAAGCCCTCGACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCCGGaca > 7:139324/1‑149 (MQ=255) ggcgCGCTTGCCGCCCGTGACGACCTCTATATGGGGCTGCTCCCTGGCCCGGTTGACGAAGCCCTCGACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCCGGaca > 7:80538/1‑149 (MQ=255) gccgccCGTGACGACCTCTATATGGGGCTGCTCCCTGGCCCGGTTGACGAAGCCCTCGACACGCTGCAGGTGCTCTTGGGTGATGAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACGCGGCTTCGc > 5:19730/1‑149 (MQ=255) cgccCGTGACGACCTCTATATGGGGCTGCTCCCTGGCCCGGTTGACGAAGCCCTCGACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGcc > 7:277973/1‑148 (MQ=255) ccGTGACGACCTCTATATGGGGCTGCTCCCTGGCCCGGTTGACGAAGCCCTCGACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGc > 8:348673/1‑149 (MQ=255) gTGACGACCTCTATATGGGGCTGCTCCCTGGCCCGGTTGACGAAGCCCTCGACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCtt < 2:330930/149‑1 (MQ=255) acCTCTATATGGGGCTGCTCCCTGGCCCGGTTGACGAAGCCCTCGACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGcgaac < 6:271582/149‑1 (MQ=255) tctATATGGGGCTGCTCCCTGGCCCGGTTGACGAAGCCCTCGACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGcgaacgaa > 1:65586/1‑149 (MQ=255) gggCTGCTCCCTGGCCCGGTTGACGAAGCCCTCGACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCggg < 2:65586/148‑1 (MQ=255) ggCTGCTCCCTGGCCCGGTTGACGAAGCCCTCGACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTa < 8:277973/149‑1 (MQ=255) gctgctCCCTGGCCCGGTTGACGAAGCCCTCGACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCggg > 5:170147/1‑146 (MQ=255) tCCCTGGCCCGGTTGACGAAGCCCTCGACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGc > 7:93150/1‑149 (MQ=255) cccTGGCCCGGTTGACGAAGCCCTCGACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGac > 5:343281/1‑107 (MQ=255) cccTGGCCCGGTTGACGAAGCCCTCGACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGac < 6:343281/107‑1 (MQ=255) gCCCGGTTGACGAAGCCCTCGACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCt < 7:348673/148‑1 (MQ=255) cccGGTTGACGAAGCCCTCGACACGCTGCAGGTTCTCTTGGGTGATGAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCAGATTTGTATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTg < 1:104190/149‑1 (MQ=255) cGAAGCCCTCGACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAATTTTTTTAAAGTACTCGGGGTAGACCGCGTTCTTCACATAGAgg < 6:274560/149‑1 (MQ=255) ccTCGACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCCGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGacac < 8:139324/149‑1 (MQ=255) ccTCGACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCCGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGacac < 8:80538/149‑1 (MQ=255) gACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACAcgc < 6:170147/147‑1 (MQ=255) gACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCgg < 5:59488/149‑1 (MQ=255) cacGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGcc > 7:262591/1‑149 (MQ=255) acGCTGCATGTGCTTCTGGGTTATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCg < 1:132062/149‑1 (MQ=255) gCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTa > 6:316752/1‑149 (MQ=255) aGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTa < 6:56419/107‑1 (MQ=255) aGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTa > 5:56419/1‑107 (MQ=255) aGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATACTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTc > 5:68632/1‑149 (MQ=255) gCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGa < 8:313074/105‑1 (MQ=255) gCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGa > 7:313074/1‑105 (MQ=255) ttGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCgg > 7:80503/1‑149 (MQ=255) tGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCGGCGTTg > 6:292132/1‑149 (MQ=255) aTCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCGGCGTTGt < 8:93150/148‑1 (MQ=255) aTCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCGGCGTTGt > 4:227123/1‑148 (MQ=255) aGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCGGCGTTGTaaaa < 1:139163/149‑1 (MQ=255) gCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGa > 1:358467/1‑113 (MQ=255) gCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGa < 2:358467/113‑1 (MQ=255) ccATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCGGCGTTGTAAAAGCCGAAg > 2:115112/1‑149 (MQ=255) ccATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGAAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCGGCGTTGTAAAAGCCGAAg < 2:218826/149‑1 (MQ=255) ttCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTg < 1:261868/90‑1 (MQ=255) ttCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTg > 2:261868/1‑90 (MQ=255) cGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCGGCGTTGTAAAAGCCGAAGGcgcg > 5:311912/1‑148 (MQ=255) ggTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCGGCGTTGTAAAAGCCGAAGGCGCGaa < 8:262591/149‑1 (MQ=255) ccGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCGGCGTTGTAAAAGCCGAAGGCGCGAATGccc < 1:115112/149‑1 (MQ=255) ggTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCGGCGTTGTAAAAGCCGAAGGCGCGAATGCCCTc > 7:355363/1‑148 (MQ=255) aTCCTGCAAGCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGATCTCCGGGTAGACCGCCTTCTGCACATAGAGGCTACACGCGGCCGTTCATTCCTGGCCGGCGTTGTAAAAGCCGAAGGCGCGAATGCCCTCGAcg < 6:19730/148‑1 (MQ=255) aTCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGc < 3:157344/76‑1 (MQ=255) aTCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGc > 4:157344/1‑76 (MQ=255) aTCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCGGCGTTGTAAAAGCCGAAGGCGCGAATGCCCTCGAcgg > 6:303034/1‑149 (MQ=255) cTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCGGCGTTGTAAAAGCCGAAGGCGCGAATGCCCTCGAcggcgg > 2:37795/1‑149 (MQ=255) cTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCGGCGTTGTAAAAGCCGAAGGCGCGAATGCCCTCGAcggcgg > 6:129412/1‑149 (MQ=255) aCCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCGGCGTTGTAAAAGCCGAAGGCGCGAATGCCCTCGACGGCGGCGTc > 8:102516/1‑148 (MQ=255) cccACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCGGCGTTGTAAAAGCCGAAGGCGCGAATGCCCTCGACGGCGGCGTCGa < 5:316752/149‑1 (MQ=255) cacaTTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCGGCGTTGTAAAAGCCGAAGGCGCGAATGCCCTCGACGGCGGCGTCGATg > 5:277412/1‑149 (MQ=255) acaTTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCGGCGTTGTAAAAGCCGAAGGCGCGAATGCCCTCGACGGCGGCGTCGATGt > 2:88136/1‑149 (MQ=255) acaTTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCGGCGTTGTAAAAGCCGAAGGCGCGAATGCCCTCGACGGCGGCGTCGATGt > 1:7024/1‑149 (MQ=255) tGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCGGCGTTGTAAAAGCCGAAGGCGCGAATGCCCTCGACGGCGGCGTCGATGTCGGCAtcgtc > 5:73894/1‑148 (MQ=255) | GGCGCGCTTGCCGCCCGTGACGACCTCTATATGGGGCTGCTCCCTGGCCCGGTTGACGAAGCCCTCGACACGCTGCAGGTGCTCTTGGGTGATCAGCGGGCCCATTTCGGTTGCCGGGTCATCCTGCAACCCACATTTG‑ATGCTGGACACGGCTTCGCCAAGCTTGCGAACGAACTCCGGGTAGACCGCCTTCTGCACATAGAGGCGACACGCGGCCGTACAGTCCTGGCCGGCGTTGTAAAAGCCGAAGGCGCGAATGCCCTCGACGGCGGCGTCGATGTCGGCATCGTC > NC_002947/3192402‑3192692 |
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: ‑ |