| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| 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... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 1,544,021 | 1 | . | A | 90.5% | 60.0 / 0.2 | 21 | coding (40/1389 nt) | narU | nitrate/nitrite transporter |
| Reads supporting (aligned to +/- strand): ref base . (1/1); new base A (14/5); total (15/6) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 5.00e-01 | |||||||||||
| 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% | 63.0 / NA | 21 | L13F (TTG→TTT) | narU | nitrate/nitrite transporter |
| Reads supporting (aligned to +/- strand): ref base C (0/0); new base A (15/6); total (15/6) | |||||||||||
ATTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑CAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTG > NC_000913_3_hsa_tpiA/1543878‑1544151 || aTTGAGATTAACGGTAACTGCGCTAAATAGCATACAGCTGTGGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAACAGGCCGGATTTTCTGGTTTCCAGTCGCC‑Aaaaa > 2:301863/1‑149 (MQ=255) ttGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACCTAGAAGGCAAGAAGTAGACAACTGAATGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑Aaaaaa < 1:347875/149‑2 (MQ=255) cTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTAttttt < 1:344669/149‑1 (MQ=255) cgcTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTGACAGAACGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTtctc > 1:308798/1‑149 (MQ=255) gcTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAAATTTCTTCGGGCAATCTGTTTTCCTTTATTTTGCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACGATTTTTCTCa > 1:45453/1‑149 (MQ=255) tAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCATTCGCGAAAAAAGATACAGCCTATTTTTCTCAtt > 2:166479/1‑149 (MQ=255) tAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGc > 2:285033/1‑149 (MQ=255) aTCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGTTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTg > 2:90553/1‑149 (MQ=255) acacAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCatat > 1:146009/1‑149 (MQ=255) acaGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTg > 1:390239/1‑149 (MQ=255) gAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTc < 1:133199/149‑1 (MQ=255) gAAGGCAAGAAGTAGACAACTGACCGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTc > 2:213461/1‑149 (MQ=255) tatCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACAt > 2:28216/1‑129 (MQ=255) tatCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACAt < 1:28216/129‑1 (MQ=255) tCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCAAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCCCACATTGGTAATGaaaaaa > 2:290117/1‑149 (MQ=255) ccAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTTATTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaaa < 1:330583/149‑1 (MQ=255) agagATTTCTTCGAGCAATATGTTTTCCTTTCTTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTTATTTTGCAGTGCCCTATTTTTCCTCACATGCCCACATTGGTAATAAAACACAGa > 2:84593/1‑149 (MQ=255) aGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGt > 1:127776/1‑149 (MQ=255) ggcagtaTTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAACCACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAg < 2:369040/143‑1 (MQ=255) cGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGAt > 1:393084/1‑149 (MQ=255) ttCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTg > 1:347110/1‑149 (MQ=255) || ATTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑CAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTG > NC_000913_3_hsa_tpiA/1543878‑1544151 |
| Alignment Legend |
|---|
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: ‑ |