| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 1,544,021:1 | +A | 87.5% | coding (40/1389 nt) | narU ← | nitrate/nitrite transporter |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 1,544,021 | 1 | . | A | 87.5% | 89.1 / 8.1 | 32 | coding (40/1389 nt) | narU | nitrate/nitrite transporter |
| Reads supporting (aligned to +/- strand): ref base . (2/2); new base A (16/12); total (18/14) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
GATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGG > NC_000913_3_hsa_tpiA/1543883‑1544152 | gaTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑aaa‑aagata < 1:377057/149‑6 (MQ=255) ttAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAAc < 1:147367/149‑1 (MQ=255) cagccAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGTGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGt < 1:483754/146‑1 (MQ=255) acacAGAAGGCAAGAAGTAGACAACGGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGTCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCatat < 1:621042/149‑1 (MQ=255) gAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTc < 2:395841/149‑1 (MQ=255) agaagTAGACTACTGACTGATATTGAGAGAGTGTTTTGAGCAACATGTTTTCCTTTATGTTCCCAGAAGGCCGGATGTTCTGGTGTCCAGTCGCGAA‑AAA‑AGATAACGTCTATTTTTCTCTTTTTGCAGTGCCATATTGTTCCTCACAt < 2:188347/149‑1 (MQ=255) ctgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGt > 1:492834/1‑149 (MQ=255) actgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAAt > 1:218845/1‑149 (MQ=255) tgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAATCGCGAA‑AAA‑AGATAACGCCTCTTTTTCTCATTTTGCAGTGCCATATTGTTACTCACATGCACCCATTGGTCATGa > 2:548413/1‑149 (MQ=255) atatCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaa > 1:131250/1‑149 (MQ=255) atCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaa > 2:383972/1‑149 (MQ=255) tCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATACACACATTAGTAATGaaaaaa > 2:94746/1‑149 (MQ=255) tCCAGAGATTTCTTCGAACAATATGTTCTCCTTTATTTTCCAAGCAGGCCGGATTTCATGATCTCCAGTCGCGAA‑AAA‑AAATAACGACTATTTTTCTCATTTTGCAGTCCCCTATTGTCCCTCACATGCACACATCGGTAATGaaaaaa > 2:613576/1‑149 (MQ=255) cAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAg > 1:347830/1‑149 (MQ=255) agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑AAAGAGATAACGACTATTTTTCTCATTTTGCAGTTCCATATTGTTCCTCACATTCACACATTGGTAATAAAAAAAAGa > 2:220862/1‑149 (MQ=255) agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTCAGGACGCGCGAA‑AAA‑AGAATTCTACTATTTTTCTCATTTTGGAGTTCCATATTGTTCCTCACACGCACACATTGGTAATGAAAAAAAGa > 1:678725/1‑149 (MQ=255) tcttcGCGCAATACGTTGTACAAAATTTTACCAGAAATCCGGATTGTCTGAATTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACCTGCACACTTTGGTAATGAAAAAAAGACAAAaca > 2:404414/1‑149 (MQ=255) ttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAacaag > 1:654090/1‑147 (MQ=255) cGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAg > 1:11455/1‑149 (MQ=255) cGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAg < 1:366732/149‑1 (MQ=255) gAGCAAGATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAgg < 2:323012/149‑1 (MQ=255) aaTATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAg > 1:154726/1‑149 (MQ=255) ttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACaaaa < 2:350725/130‑1 (MQ=255) ttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACaaaa > 1:350725/1‑130 (MQ=255) tttATTTTCCCAGAAGGGCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCa < 2:503817/149‑1 (MQ=255) ttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAg < 1:619658/149‑1 (MQ=255) tttCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGttat > 1:345475/1‑149 (MQ=255) aGGCCGTATTTTCTGGGTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGGAGTGCGATATTGTTCCTCAAATGCACACATTGGTAATGAAAAAAAGACAAAACCCGAGGTAAGGCGCAATAGCCAGTTATTAGAATTaa < 2:346295/149‑1 (MQ=255) aGGCCCGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTaa < 1:52397/149‑1 (MQ=255) ggCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAg > 1:501995/1‑149 (MQ=255) gCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAgg > 2:684878/1‑149 (MQ=255) tatGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTgg < 1:1987/147‑1 (MQ=255) | GATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGG > NC_000913_3_hsa_tpiA/1543883‑1544152 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |