| 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 | 87.8% | 147.7 / 12.7 | 49 | coding (40/1389 nt) | narU | nitrate/nitrite transporter |
| Reads supporting (aligned to +/- strand): ref base . (4/2); new base A (20/23); total (24/25) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.17e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.77e-01 | |||||||||||
| * | NC_000913_3_hsa_tpiA | 1,544,022 | 0 | C | A | 97.9% | 154.8 / NA | 49 | L13F (TTG→TTT) | narU | nitrate/nitrite transporter |
| Reads supporting (aligned to +/- strand): ref base C (0/0); major base A (23/24); minor base G (1/0); total (24/25) | |||||||||||
| 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 | |||||||||||
GAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑G‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAA > NC_000913_3_hsa_tpiA/1543881‑1544170 ||| gagaTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑G‑A‑aaaaaga > 2:647070/1‑146 (MQ=255) agaTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGACCGGTCGCCGTTCCTTTATTTTCCCAGAAGGCCGGCTTTTCTGGTTTCCAGTCG‑C‑G‑A‑aaaaagat > 1:889574/1‑145 (MQ=255) aTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCTCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATaa > 1:523619/1‑149 (MQ=255) tAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTAtt > 2:748150/1‑149 (MQ=255) aGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCa < 1:300297/149‑1 (MQ=255) gCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAg > 1:63508/1‑149 (MQ=255) cATGCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCAGATTTATTTGGTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGt < 1:856949/149‑1 (MQ=255) ccAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGcc < 1:522276/149‑1 (MQ=255) ccAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGcc < 1:214784/149‑1 (MQ=255) aGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑G‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCat > 2:54668/1‑149 (MQ=255) cacaGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTTATTTTTCATTGCCATAtt > 1:592718/1‑149 (MQ=255) acaGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGGTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTCTTTTTCTGATTTTGCATTGTCTTATTg > 2:731667/1‑149 (MQ=255) acaGAAGGCAAGAAGTAGACAACTGACTGATATACAGAGATTACTACGAGCAATATGATTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTAGGTTCCAGTCG‑C‑GAG‑AAACGATAAAGACTATTTTTCTCAATTTTCAGTCCCAGATTg > 2:487941/1‑149 (MQ=255) caGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCCGATTTTCTGGTTTCCAGTCG‑CTA‑A‑AAAAGATAACGACTATTTTTCTCTTTTTGAAGTTCCATATTGt > 2:782021/1‑149 (MQ=255) gAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTc < 1:238304/149‑1 (MQ=255) gAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTc < 1:238410/149‑1 (MQ=255) gAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTACGGGTTTCCAGTAGAA‑A‑T‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTc < 1:213905/149‑1 (MQ=255) agTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTTTTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGca < 1:208840/149‑1 (MQ=255) tgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTa < 1:448161/149‑1 (MQ=255) tgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTa > 1:193884/1‑149 (MQ=255) actgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAAt < 2:816070/149‑1 (MQ=255) actgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTACCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACAACTATTTTTCTCATTTTGCAATGCCATATTGTTCCTCAAATGCACACATTGGTAAt > 1:826022/1‑149 (MQ=255) agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGa < 1:57027/149‑1 (MQ=255) tttCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACaaa > 2:375080/1‑148 (MQ=255) tttCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACaaa < 1:375080/148‑1 (MQ=255) ttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAAt > 2:340678/1‑130 (MQ=255) ttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAAt < 1:340678/130‑1 (MQ=255) cAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑G‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTaa < 1:653485/149‑1 (MQ=255) aaTATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAg > 1:560870/1‑149 (MQ=255) atGTTCTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGgcg < 2:889574/149‑1 (MQ=255) ttttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCaa > 1:731482/1‑149 (MQ=255) ttttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCaa > 1:498114/1‑149 (MQ=255) ttttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGATaacgtccaa > 2:137284/1‑142 (MQ=255) tCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATat > 2:701295/1‑148 (MQ=255) tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCa > 1:508876/1‑149 (MQ=255) tCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGttatta < 1:54668/149‑1 (MQ=255) tCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTCTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGttatta < 1:782021/149‑1 (MQ=255) ggCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAg < 2:731482/149‑1 (MQ=255) tcGGATTTTCTTGTTTCCAATAG‑C‑AAA‑AAAAGATAACGACTAATTTTCTCATTTTGAAGTGCAATATTGTTACTCACATGCAAACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGa < 2:480532/148‑1 (MQ=255) ccGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGa > 1:895985/1‑149 (MQ=255) cGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTca < 2:592049/75‑1 (MQ=255) cGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTca > 1:592049/1‑75 (MQ=255) gATTTTCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGa > 2:511851/1‑149 (MQ=255) aTTTTCTGGGTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTCCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATG‑AAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAAt < 2:539733/149‑1 (MQ=255) tCTTGTTTCAATTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACACTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTgg < 1:134591/149‑1 (MQ=255) tCTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTgg < 1:134556/149‑1 (MQ=255) cTGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTggg < 2:508876/149‑1 (MQ=255) tGGTTTCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGAAATAGCTAGTGTTAAGAATTAAGGATGAATAGGGt > 2:682942/1‑149 (MQ=255) tttCCAGTCG‑C‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTATTGCTCAAATGCACATATGGGCAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGaa < 1:851809/149‑1 (MQ=255) tcgcgaaaaaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAGGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGa > 1:10989/8‑149 (MQ=255) cgcgaaaaaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGAt < 1:647070/143‑1 (MQ=255) cgcgaaaaaaGATAACGACTAATTTTCGCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGAt < 2:523619/143‑1 (MQ=255) aaaaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGaaa < 1:610480/148‑1 (MQ=255) ||| GAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑G‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAA > NC_000913_3_hsa_tpiA/1543881‑1544170 |
| 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: ‑ |