| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 1,544,021:1 | +A | 68.0% | 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 | 68.0% | 51.9 / 23.5 | 25 | coding (40/1389 nt) | narU | nitrate/nitrite transporter |
| Reads supporting (aligned to +/- strand): ref base . (5/3); new base A (10/7); total (15/10) | |||||||||||
| 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 | |||||||||||
TTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTC‑GC‑G‑C‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGAT > NC_000913_3_hsa_tpiA/1543879‑1544145 | ttGAGATTAACGGTAACTGCGCCAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTC‑GC‑G‑A‑aaa‑aa < 1:390528/149‑2 (MQ=255) tGAGATTAACGGTAACTGCGCTAAATAGCCTCCAGACACAGAAGGCAAGAAGTAGACACCTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCTAGAAGGCCGGAGTTTCTGCTCTCCAGTC‑GC‑G‑C‑ata‑ata > 2:347072/1‑147 (MQ=255) tgaaCGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTAATTATCCCAGAAGGCCGGATTTTCTGGTTTCCAGTC‑GC‑GAA‑AAA‑AGATAAc < 1:266966/147‑1 (MQ=255) cgcTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTC‑GC‑GAA‑AAA‑AGATAACGACTATTTTtctc > 1:423399/1‑149 (MQ=255) cTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTC‑GC‑GAA‑AAA‑AGATAACGAGTATTTTtctctt > 1:47808/1‑147 (MQ=255) acaGAAGGCAAGAAGTAGACGACTGACCGACATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTC‑GC‑GAA‑AAA‑AGATAACGACTATTTTTCTCAGTTTACAGTGCCATATTg > 1:671085/1‑149 (MQ=255) gAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTC‑GC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTc < 1:451754/149‑1 (MQ=255) ggCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAAGCCGGATTTTCTGGTTTCCAGTC‑GC‑GAA‑AAA‑AGATAACGACTATTTTTCTCTTTTTGCAGTGCCATTTTGTTCCTc > 2:41732/1‑149 (MQ=255) aagaagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTC‑GC‑GAA‑AAA‑AGATAACGACTATTTTTTTCTTTTTTCCTATCCATAATGTTCCTaaca > 2:129459/1‑149 (MQ=255) aagaagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTC‑GC‑G‑AAAAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTcaca > 1:293070/1‑149 (MQ=255) tgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTC‑GC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCCCATGCACACATTGGTAATGa > 1:280479/1‑149 (MQ=255) tcgagagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTC‑GC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCTTCACATGCACACGTTGGTAATGtaaaaa > 2:571286/4‑149 (MQ=255) tCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTC‑GC‑G‑AAAAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGAACACATTGGTAATGaaaaaa > 1:619686/1‑149 (MQ=255) tCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCAGGATTTTCTGGTTTCCAGTC‑GC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCGCACATACACACATTGCTAATGaaaaaa > 2:93732/1‑149 (MQ=255) agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTC‑GC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGa > 2:559490/1‑149 (MQ=255) agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTC‑GC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGa < 1:83771/149‑1 (MQ=255) agaTTTTTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTC‑GC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACa < 1:180221/149‑1 (MQ=255) ttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTC‑GC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACg < 1:150946/149‑1 (MQ=255) ttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGATTCCAGTG‑GCTG‑A‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACg > 1:366443/1‑149 (MQ=255) cGAGTAATATGTTTACCTTTATTTATCCAGAAGGCCGGGTTTTGTGGTTTCCAGTC‑GC‑A‑A‑AAATAGATAACGACTATTTTTTTCATTTGGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAg < 2:621384/149‑1 (MQ=255) tttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTC‑GC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAAt > 1:167065/1‑149 (MQ=255) cTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTC‑GC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGcc < 1:639513/149‑1 (MQ=255) ccaagatgCCGGATTTTTTGGTTTCCAGTCGGT‑A‑A‑AAA‑AGATAACGACTATTTTTCGCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGa < 2:436669/142‑1 (MQ=255) ccAGAGGGCCGGTTTGTGTGGTTTCCAGGC‑GC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTTCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGa < 2:436666/149‑1 (MQ=255) cGGATTTTCTGGTTTCCAGTC‑GC‑G‑AAAAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGCGGTAAGGCGCAATAGCCAGTTATTAAAATTAAGGAt > 2:657310/1‑149 (MQ=255) | TTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTC‑GC‑G‑C‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGAT > NC_000913_3_hsa_tpiA/1543879‑1544145 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |