Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 5,130,031 | A→T | 13.8% | L474Q (CTG→CAG) | recQ ← | ATP‑dependent DNA 3'‑5' helicase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 5,130,031 | 0 | A | T | 13.8% | 73.9 / 3.6 | 28 | L474Q (CTG→CAG) | recQ | ATP‑dependent DNA 3'‑5' helicase |
Reads supporting (aligned to +/- strand): ref base A (7/17); new base T (2/2); total (9/19) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 5.74e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
CGGGCTGCCGCCGCTGGACGACGAGGTTTTGGCCGTGGTCTGCGGTTTGAGATCACGGCGCAGTTGCAAGGTCACCTCGCCGCGCAGCAGCGGCCGGCAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAGCCTTTGCCAACGCCGAATACCGACAGCTTCTCGTGGCCGAAATTGCGCACCTTCTCGGTGTCCTTGCCCAACAGCACATCGACCAGGTGG > NC_002947/5129883‑5130174 | cGGGCTGCCGCCGCTGGACGACGAGGTTTTGGCCGTGGTCTGCGGTTTGAGATCACGGCGCAGTTGCAAGGTCACCTCGCCGCGCAGCAGCGGCCGGCAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAg < 2:284606/150‑1 (MQ=255) gacgacGAGGTTTTGGCCGTGGTCTGCGGTTTGAGATCACGGCGCAGTTGCAAGGTCACCTCGCCGCGCAGCAGCGGCCGGCAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAAc < 2:295649/150‑1 (MQ=255) cgaGGTTTTGGCCGTGGTCTGCGGTTTGAGATCACGGCGCAGTTGCAAGGTCACCTCGCCGCGCAGCAGCGGCCGGCAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACg < 2:148698/150‑1 (MQ=255) ggTTTTGGCCGTGGTCTGCGGTTTGAGATCACGGCGCAGTTGCAAGGTCACCTCGCCGCGCAGCAGCGGCCGGCAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGaa < 1:46619/150‑1 (MQ=255) cGTGGTCTGCGGTTTGAGATCACGGCGCAGTTGCAAGGTCACCTCGCCGCGCAGCAGCGGCCGGCAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGAACAGTGAgcg > 2:233115/1‑150 (MQ=255) tCACGGCGCAGTTGCAAGGTCACCTCGCCGCGCAGCAGCGGCCGGCAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAg > 2:420391/1‑150 (MQ=255) gcgcAGTTGCAAGGTCCCGGCGCCGCGCAGCAGCGGCCGGCAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAGCCttt < 1:271274/150‑1 (MQ=255) gcgcAGTTGCAAGGTCACCTCGCCGCGCAGCAGCGGCCGGCAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAGCCttt < 1:46958/150‑1 (MQ=255) cgcAGTTGCAAGGTCACCTCGCCGCGCAGCAGCGGCCGGCAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAGCCTTTg < 2:361382/150‑1 (MQ=255) gTTGCAAGGTCACCTCGCCGCGCAGCAGCGGCCGGCAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAGCCTTTGCCaa < 2:478850/150‑1 (MQ=255) gCAAGGTCACCTCGCCGCGCAGCAGCGGCCGGCAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAGCCTTTGCCAACGc > 1:18664/1‑150 (MQ=255) ggTCACCTCGCCGCGCAGCAGCGGCCGGCAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAGCCTTTGCCAACGCCGaa < 2:466510/150‑1 (MQ=255) ggTCACCTCGCCGCGCAGCAGCGGCCGGCAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAGCCTTTGCCAACGCCGaa < 1:420391/150‑1 (MQ=255) cACCTCGCCGCGCAGCAGCGGCCGGCAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAGCCTTTGCCAACGCCGAATAc < 2:18664/150‑1 (MQ=255) tCGCCGCGCAGCAGCGGCCGGCAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAGCCTTTGCCAACGCCGAATACCGAc > 2:9708/1‑150 (MQ=255) cagcagCGGCCGGCAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAGCCTTTg < 1:71985/124‑1 (MQ=255) cagcagCGGCCGGCAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAGCCTTTg > 2:71985/1‑124 (MQ=255) cagcagCGGCCGGCAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAGCCTTTGCCAACGCCGAATACCGACAGCTtctc < 2:334869/150‑1 (MQ=255) agcGGCCGGCAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAGCCTTTGCCAACGCCGAATACCGACAGCTTCTCGTgg < 1:9708/150‑1 (MQ=255) gcAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAGCCTTTGCCAACGCCGAATACCGACAGCTTCTCGTGGCCGAAAtt < 2:90678/150‑1 (MQ=255) aCAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAGCCTTTGCCAACGCCGAATACCGACAGCTTCTCGTGGCCGAAATTgcg < 2:108001/142‑1 (MQ=255) aCAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAGCCTTTGCCAACGCCGAATACCGACAGCTTCTCGTGGCCGAAATTgcg > 1:108001/1‑142 (MQ=255) ccgGAGACTTCCAGGTCGAGGTGGACCAGGCCGCGCGCCACCAACTGACGCTACTGTGAGCGCCACTCGACCTCGGCTCAGCCTTTCCCAACGCCGAATACCTACAGCCTCTCGTGGCCGACCTTGCGCACCTTCTCGGTGTCCTTGccc > 2:31725/1‑150 (MQ=255) tAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAGCCTTTGCCAACGCCGAATACCGACAGCTTCTCGTGGCCGAAATTGCGCACCTTCTCGGTGTCCTTGCCCAAc < 2:358006/150‑1 (MQ=255) cctggTCGATATCGACCTGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCAGCGAACTTCGGCCAAGACTTTTCCATCGCCGAATACCGACAGCTTCTCGTGGCCGAAATTGCGCACCTTCTCGGTGTCCTTGCCCAACAGCACAt > 1:184381/4‑150 (MQ=255) cctggTCGATATCGACCTGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAGCCTTTGCCAACGCCGAATACCGACAGCTTCTCGTGGCCGAAATTGCGCACCTTCTCGGTGTCCTTGCCCAACAGCACAt > 1:156975/4‑150 (MQ=255) tCGACCTGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAGCCTTTGCCAACGCCGAATACCGACAGCTTCTCGTGGCCGAAATTGCGCACCTTCTCGGTGTCCTTGCCCAACAGCACATCGACCAGGTgg < 2:156975/150‑1 (MQ=255) tCGACCTGGCCGCGCGCCACCAACTGACGCAACAGTGAGCGCCACTCGACCTCGGCCAAGCCTTTGCCAACGCCGAATACCGACAGCTTCTCGTGGCCGAAATTGCGCACCTTCTCGGTGTCCTTGCCCAACAGCACATCGACCAGGTgg < 2:184381/150‑1 (MQ=255) | CGGGCTGCCGCCGCTGGACGACGAGGTTTTGGCCGTGGTCTGCGGTTTGAGATCACGGCGCAGTTGCAAGGTCACCTCGCCGCGCAGCAGCGGCCGGCAGCTGTCGGACAGGCGCAGGCCGCCGTAGCCTTCCAGGTCGATATCGACCAGGCCGCGCGCCACCAACTGACGGAACAGTGAGCGCCACTCGACCTCGGCCAAGCCTTTGCCAACGCCGAATACCGACAGCTTCTCGTGGCCGAAATTGCGCACCTTCTCGGTGTCCTTGCCCAACAGCACATCGACCAGGTGG > NC_002947/5129883‑5130174 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |