Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 1,544,022 | 1 bp→AA | coding (39/1389 nt) | narU ← | nitrate/nitrite transporter |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_tpiA | 1,544,021 | 1 | . | A | 85.1% | 138.4 / 17.8 | 47 | coding (40/1389 nt) | narU | nitrate/nitrite transporter |
Reads supporting (aligned to +/- strand): ref base . (6/1); new base A (14/26); total (20/27) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 3.20e-02 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
* | NC_000913_3_hsa_tpiA | 1,544,022 | 0 | C | A | 100.0% | 158.2 / NA | 47 | L13F (TTG→TTT) | narU | nitrate/nitrite transporter |
Reads supporting (aligned to +/- strand): ref base C (0/0); new base A (20/27); total (20/27) |
ACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGAT > NC_000913_3_hsa_tpiA/1543888‑1544165 ||| aCGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGAc > 1:829970/1‑149 (MQ=255) tGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTtc < 1:927118/149‑1 (MQ=255) gcgcTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTtct > 1:448674/1‑149 (MQ=255) cgcTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTtctc > 1:544880/1‑149 (MQ=255) tAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATaa > 1:39110/1‑132 (MQ=255) tAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCAtt < 1:752719/149‑1 (MQ=255) tAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTAGCGAA‑AAA‑A‑GATaa < 2:39110/132‑1 (MQ=255) aaTAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑AAA‑ACGATAACGACTATTTTTCTCAtttt > 1:564182/1‑149 (MQ=255) aTAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTg < 2:53681/149‑1 (MQ=255) tAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGc < 1:362888/149‑1 (MQ=255) aGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCa < 1:900286/149‑1 (MQ=255) aTCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTg > 1:594928/1‑149 (MQ=255) tCCAGACACAGAAGGCAAGAAGTAGACAGCTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCTCAGAAGGCCGGATTTTCTGGTTTCCAGTGGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCAtttttttgtgc > 2:824312/1‑142 (MQ=255) aGACACAGAAGGCAAGAAGTAGACAACTGACTGAGATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGACCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCat > 2:613740/1‑149 (MQ=255) aGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGtt < 1:890989/149‑1 (MQ=255) gaGGCAAGAAGGAGATAACTTTGTGATATCGAGAGATTTCTTTGAGCAATATGTTTTACTTTATTTTACCAGAAGGCCGGATTTTCTGGTTAAAAAAAAAAAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTcc < 2:220106/148‑1 (MQ=255) gCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTca < 1:537866/149‑1 (MQ=255) gCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTca > 1:130652/1‑149 (MQ=255) aagagAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCAAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑AAAGA‑GATAAAGACTATTTTTCTCATTTTACATTGCCCTATTGTTGCTCACATGcaca > 2:733077/2‑149 (MQ=255) gACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGcacaca > 2:497300/1‑149 (MQ=255) aaCTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTg < 2:564182/149‑1 (MQ=255) cgttcggaTATCCAAGGGTTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGt < 2:239688/143‑1 (MQ=255) tgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCt > 2:427775/1‑131 (MQ=255) tgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCt < 1:427775/131‑1 (MQ=255) tgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTa > 1:232196/1‑149 (MQ=255) tCCAGAGATCTCCTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGATAATGaaaaaa < 1:609236/149‑1 (MQ=255) cgagagATTCCTTCGATCTATATGTTTTCCTTTATTTTCTCGGAAGGTCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GCTAACGACTATTTTTCGCATTTTGCACTGCCATATTGTTCCTCAGATGCACACATTGGTAATGaaaaaaa < 1:733077/147‑1 (MQ=255) cAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAg > 2:950410/1‑149 (MQ=255) agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGc > 1:409851/1‑107 (MQ=255) agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGc < 2:409851/107‑1 (MQ=255) agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGa > 2:383965/1‑149 (MQ=255) ttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACg < 2:448674/149‑1 (MQ=255) cAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTaa < 1:407294/149‑1 (MQ=255) ttCCTTTATTTTCCCAGACGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATa < 1:584173/149‑1 (MQ=255) cTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGcc > 2:734185/1‑149 (MQ=255) ttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCCCACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAg < 1:383965/149‑1 (MQ=255) ttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAg < 1:497300/149‑1 (MQ=255) ccAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGa < 1:718029/149‑1 (MQ=255) cAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGaa < 1:107435/149‑1 (MQ=255) aGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAGAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAAt > 1:924820/1‑149 (MQ=255) gAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAAtt < 1:909097/149‑1 (MQ=255) ggCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAg < 1:734185/149‑1 (MQ=255) ggCCGGATTTTCTGGTTACCAGTCGCGAA‑AAA‑A‑GATAACGACGCGTGAACACATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAg < 1:613740/149‑1 (MQ=255) ggTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCTTTAGAGCCAGTTATTAGAATTAAGGATGAATTGGGTg < 1:950410/149‑1 (MQ=255) cAGTCGCG‑AAAAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGc < 1:456741/149‑1 (MQ=255) cAGTCGCG‑AAAAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGc > 1:772243/1‑149 (MQ=255) cAGTCGCG‑AAAAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATGGGGGGAAGTGc > 1:220016/1‑149 (MQ=255) cgcgaaaaa‑a‑GATAACGACTATTTTTTTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGAt < 2:618967/143‑1 (MQ=255) ||| ACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGAT > NC_000913_3_hsa_tpiA/1543888‑1544165 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |