Predicted mutation | ||||||
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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... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_tpiA | 1,544,021 | 1 | . | A | 80.0% | 147.2 / 35.2 | 55 | coding (40/1389 nt) | narU | nitrate/nitrite transporter |
Reads supporting (aligned to +/- strand): ref base . (9/2); new base A (25/19); total (34/21) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.74e-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% | 176.7 / NA | 55 | L13F (TTG→TTT) | narU | nitrate/nitrite transporter |
Reads supporting (aligned to +/- strand): ref base C (0/0); new base A (34/21); total (34/21) |
ATTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAAG > NC_000913_3_hsa_tpiA/1543878‑1544171 ||| aTTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGAAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑aaaa > 1:201034/1‑149 (MQ=255) gaTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑aaaaagata < 1:235604/149‑6 (MQ=255) aTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTCTTCCTTTATTTTCCCAGACGGCCGGATTTTCTGGTTCCCAGTCGCGAA‑AAAAGATaa > 1:511551/1‑149 (MQ=255) ttAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAAc < 2:512273/149‑1 (MQ=255) cGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACt > 2:346901/1‑149 (MQ=255) cGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACt > 1:748001/1‑149 (MQ=255) gTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACAACTAt > 1:956751/1‑149 (MQ=255) cggcgcGAAAAGGCAACCAGACACCGAAGGCCAGAAGCAGACACCTGACTGATATCCAGAGATTTCTTCGAGCAAGATGGTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTAttttt < 1:387378/147‑1 (MQ=255) gcTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCa > 1:675249/1‑149 (MQ=255) tAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCAtt > 2:424365/1‑149 (MQ=255) aTCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTg > 2:573135/1‑149 (MQ=255) tCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGc > 1:186979/1‑149 (MQ=255) tCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGc > 1:709499/1‑149 (MQ=255) tCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTAGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGc > 1:194697/1‑149 (MQ=255) gACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCata > 1:783458/1‑149 (MQ=255) acaGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTg > 1:82410/1‑149 (MQ=255) aaGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTcc > 2:26372/1‑149 (MQ=255) aaGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTcc > 1:586382/1‑149 (MQ=255) gCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTca > 1:323442/1‑149 (MQ=255) cAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTACTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCCTAGTCTTCCTcac > 2:162809/1‑149 (MQ=255) agaagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACAt > 2:47237/1‑149 (MQ=255) aagtcaaCAACTGTGTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGAATTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGTCTATTTTTCGCATTTTGCAGTGCCATATTGTTCCTCACATGc < 2:1144831/143‑1 (MQ=255) aagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGc < 1:850062/149‑1 (MQ=255) agTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGca > 2:877064/1‑149 (MQ=255) tgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTa > 2:228500/1‑149 (MQ=255) actgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCAttt < 2:16812/109‑1 (MQ=255) actgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAAGATAACGACTATTTTTCTCAttt > 1:16812/1‑109 (MQ=255) tgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGa < 1:213038/149‑1 (MQ=255) atatCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaa > 2:608777/1‑149 (MQ=255) tCCAGAGATTGCTTCGATGAATATGTTTTACTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATCTCGCTGTGCCATATTGTTCCTCACATGCACAGATTGGTAATGaaaaaa < 2:511551/149‑1 (MQ=255) ccAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaaa > 2:205165/1‑149 (MQ=255) cAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTaa > 2:1106545/1‑149 (MQ=255) ccgttATTTTCCCAGAAGGCCGGATTGTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGGGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGc < 1:1032041/146‑1 (MQ=255) cTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGcc < 1:205165/149‑1 (MQ=255) tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCa < 1:608777/149‑1 (MQ=255) ccaccgAAGCCCGGATTTACATCGTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCAGATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGttatta < 1:883470/144‑1 (MQ=255) ccAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTGCCTTACATGCATAAAAAAAAAAAAAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCGGTTATTAGa < 2:709499/149‑1 (MQ=255) cAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGaa > 2:283590/1‑149 (MQ=255) aGAAGGCCGGATTTTCTGGTTTAAAGTAGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTATTCCTCACATGCACACATTGTTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCAAGTAATTAGAAt > 2:284127/1‑149 (MQ=255) gAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAAtt > 1:870441/1‑149 (MQ=255) aGGCCGGATTTTCTGGTTTCCATTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTaa < 2:956751/149‑1 (MQ=255) aGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTaa < 1:26372/149‑1 (MQ=255) aGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTaa < 2:586382/149‑1 (MQ=255) gCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAgg > 1:301669/1‑149 (MQ=255) ggATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGACATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCAAGTTATTAGAATTAAGAATg > 1:36204/1‑149 (MQ=255) aTTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGaa < 1:424365/149‑1 (MQ=255) ttCTGGTTTCCAGTCGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTg < 2:783458/149‑1 (MQ=255) tGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCATCACAAGCACACATTGGTACTGAAAACAAGACAAAACACGAGGTAAGGCGCAATAGCCAGATATTCAAATTAAgaatgaatacgat > 2:912203/1‑144 (MQ=255) gTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCata < 2:385822/54‑1 (MQ=255) gTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCata > 1:385822/1‑54 (MQ=255) gTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGt < 1:113274/105‑1 (MQ=255) gTTTCCAGTCGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGt > 2:113274/1‑105 (MQ=255) tttCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGc > 1:1173391/1‑117 (MQ=255) tttCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGc < 2:1173391/117‑1 (MQ=255) aGTCGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGCCAAAACACGAGGTAACGCGCAATAGCCAGTTATTAGAATTACGGATGAATTGGGTGAAGCGCt > 2:745683/1‑149 (MQ=255) tcgcgaaaaaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGa < 1:1106545/142‑1 (MQ=255) cgcgaaaaaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGAt < 2:323442/143‑1 (MQ=255) cgaaaaaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAg > 2:743470/5‑140 (MQ=255) cgaaaaaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAg < 1:743470/136‑1 (MQ=255) aaaaaGATAAAGACTATTTTACTCATTTTGCAGTGCTATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGaaa < 2:675249/148‑1 (MQ=255) aaaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAAg > 1:260590/1‑149 (MQ=255) ||| ATTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAAG > NC_000913_3_hsa_tpiA/1543878‑1544171 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |