| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 1,544,022 | C→A | 100% | L13F (TTG→TTT) | 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 | 1,544,022 | 0 | C | A | 100.0% | 83.2 / ‑6.7 | 29 | L13F (TTG→TTT) | narU | nitrate/nitrite transporter |
| Reads supporting (aligned to +/- strand): ref base C (0/0); major base A (10/18); minor base T (0/1); total (10/19) | |||||||||||
| Rejected as polymorphism: E-value score below prediction cutoff. | |||||||||||
| Rejected as polymorphism: Frequency below/above cutoff threshold. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
TTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGT > NC_000913_3_hsa_tpiA/1543885‑1544154 | ttAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAAc > 1:38861/1‑149 (MQ=255) tGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTtc > 1:490901/1‑149 (MQ=255) aGCATCAAGACACAGAAGTCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCa < 2:90454/149‑1 (MQ=255) ccAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTCTTTTTCTCATTTTGCAGTGcc < 1:318057/149‑1 (MQ=255) aGGCAAGAAGTAGACAATTGACTGATATCCAGAGATTTCTTGGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCt < 1:357258/149‑1 (MQ=255) gtaagaaaTAGATAACTGCCTAATATCAAGAAATACCGTCGAGCAATATGTTTTCATTTATTTACCCAGAAGGCCGGATTTTCTTGTTAAAAAAAAC‑A‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTca < 2:21835/147‑1 (MQ=255) gCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTAGCGCCATCGGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTca < 1:509311/149‑1 (MQ=255) aggaaaCAACTGACTGATATCCAGAGATTTCTTCGAGCAATTTGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCCGTGCCATATCGTTCCTCACATGca < 1:532060/144‑1 (MQ=255) tAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGcaca > 1:584860/1‑149 (MQ=255) gACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGcaccca > 1:310921/1‑149 (MQ=255) gACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCATTTATTTTCCAAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑AAAAAAGATAACGACTATTGTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGcagaca > 2:8864/1‑149 (MQ=255) gACAACCGACTGATAGCCAGAGAGCTCATCGAGCAATATGTTATCATATATATACACAGAAGGCCGGATTTTCTAGTAAACAAACAA‑AAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGcacaca < 2:76481/149‑1 (MQ=255) aaCTGACTGATATCCAGAGATTGCTTCGAGCAATATGTTTTTCTTGATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTg < 2:9963/149‑1 (MQ=255) tgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACAACTATTTTTCTCATTTTGCAGTCCAATATTCTTCCTCACCTGCCCACATTAGtc > 2:189831/1‑148 (MQ=255) ggctgaTATCCAGAAATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCATTGCAATATTGTTGCTCACATGCACACATTGGTaa < 2:378380/147‑1 (MQ=255) actgaTATCCAGTGGTTTCTTCTAGCAATAGGTTTTGCTTTGTTGTCCCAGTAGTCCTGAGTTTCTGGTTTCCAGTCGC‑GAT‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAAt < 2:496860/149‑1 (MQ=255) atatCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaa < 1:188434/149‑1 (MQ=255) cAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTACCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAg > 1:373979/1‑149 (MQ=255) tgtgCAGTATTTTTTCCTTTATTTTCCCAGAAGTCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACGATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAg < 1:46889/146‑1 (MQ=255) tcAATATGTTTTCTTTTTTCTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑CAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCTATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTa < 1:14181/148‑1 (MQ=255) accTTTATGTGACCGGCAGGTCCGATCTTCTGGTTTCCAGTCGA‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAg < 2:182134/148‑1 (MQ=255) tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCa > 1:430423/1‑149 (MQ=255) cAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGTCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGaa < 1:398012/149‑1 (MQ=255) ccGGATTATCTGGTTTCCAGGCGCAA‑A‑AAAAGATAACGACTAATGTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGGAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGa < 2:289443/149‑1 (MQ=255) cGGATTTTCTGGTTTCCAGTCGC‑G‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGAt < 1:282908/149‑1 (MQ=255) ttGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTggg < 1:391696/148‑1 (MQ=255) cTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCTTTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTggg < 1:437740/149‑1 (MQ=255) cTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACAACAGGTAAGGCGCAATAGCCAGTTATTAGACTTAAGGATGACTTggg > 2:569492/1‑149 (MQ=255) tGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGt > 1:504724/1‑149 (MQ=255) | TTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGT > NC_000913_3_hsa_tpiA/1543885‑1544154 |
| 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: ‑ |