| 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 | 81.8% | 58.2 / 8.2 | 22 | coding (40/1389 nt) | narU | nitrate/nitrite transporter |
| Reads supporting (aligned to +/- strand): ref base . (3/1); new base A (10/8); total (13/9) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 6.16e-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% | 69.4 / NA | 22 | L13F (TTG→TTT) | narU | nitrate/nitrite transporter |
| Reads supporting (aligned to +/- strand): ref base C (0/0); new base A (13/9); total (13/9) | |||||||||||
TTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATT > NC_000913_3_hsa_tpiA/1543879‑1544150 ||| ttGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAAAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑aaaaag > 2:520279/1‑148 (MQ=255) tAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTAttt < 1:371534/150‑1 (MQ=255) tAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCa < 1:274620/150‑1 (MQ=255) gCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGt > 1:54476/1‑150 (MQ=255) tCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGCTTTCTTCGAACAATATGTTTACCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAATGACTATTTTTCTCATTTTGCAGTGcc > 1:597069/1‑150 (MQ=255) acaGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATGGTTCTCATTTTGCAGTGCCATATTGt < 1:655393/150‑1 (MQ=255) aGGCAAGAAGTAGACAACAGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTc < 2:156586/150‑1 (MQ=255) gCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGc > 2:586250/1‑130 (MQ=255) gCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGc < 1:586250/130‑1 (MQ=255) gACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTg < 2:198104/132‑1 (MQ=255) gACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTg > 1:198104/1‑132 (MQ=255) agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAAAGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCGCAAATTGGTAATGAAAAAAAGaa > 2:511538/1‑149 (MQ=255) tttCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAac > 2:382942/1‑150 (MQ=255) aGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGATAATGACAAAAAGACAAAAAACGAgtaa > 2:335170/1‑147 (MQ=255) cAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAg > 1:73119/1‑150 (MQ=255) ttttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAAt > 2:467422/1‑150 (MQ=255) ttttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAAt < 1:245141/150‑1 (MQ=255) cTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGGCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGAGACAAATTAGTCTTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCa < 1:294899/150‑1 (MQ=255) ttCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGttattg > 1:275235/1‑149 (MQ=255) cAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAAGATCACGAATACTATTATGTTTTTGCAGTGCCATATTGTTCCTCACATGCACCCATTGGTAATGAAAAACAGACAAAACACGAGATAAGACGCAATAGCCAGTTATTAGCAt > 2:338219/1‑150 (MQ=255) ggATTTTCTGGTTTCCAGTCGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCACTAGCCAGTTATTAGAATTAAGGATGa > 1:357430/1‑150 (MQ=255) ttttCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAAtt < 1:622893/150‑1 (MQ=255) ||| TTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATT > NC_000913_3_hsa_tpiA/1543879‑1544150 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |