| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 990,097 | C→A | 7.1% | W87L (TGG→TTG) | pncB ← | nicotinate phosphoribosyltransferase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 990,097 | 0 | C | A | 7.1% | 150.6 / 4.2 | 57 | W87L (TGG→TTG) | pncB | nicotinate phosphoribosyltransferase |
| Reads supporting (aligned to +/- strand): ref base C (27/25); new base A (2/2); total (29/28) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.14e-02 | |||||||||||
ATAGCGATGTACCATTTCACTGATAACCGCCAGCAAAGGAACTTCCCAGAGGATGACTTCACGCCACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATCGCCTGAACCTGTTCACGAATAGCATCGGCATAAATACCCAGCAGATCGTCACCTCGGCAACGAAACT > NC_000913_3_hsa_tpiA/989949‑990244 | atagcgatGTACCATTTCACTGATAACCGCCAGCAAAGGAACTTCCCAGAGGATGACTTCACGCCACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAAcc > 2:488962/1‑149 (MQ=255) tagcgatGTAACAGTGCACGGATAACCGCCAGCAAAGGAACTTCCCAGAGGATGACTTCACGCCACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCa < 1:159670/149‑1 (MQ=255) ggcgatGTACCATTTCACTGATAACCGCCAGCAAAGGAACTTCCCAGAGGATGACTTCACGCCACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAg < 1:113525/148‑1 (MQ=255) agcgatGTACCATTTCACTGATAACCGCCAGCAAAGGAACTTCCCAGAGGATGACTTCACGCCACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAg < 1:53655/149‑1 (MQ=255) atGTACCATTTCACTGATAACCGCCAGCAAAGGAACTTCCCAGAGGATGACTTCACGCCACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTaa < 1:586854/149‑1 (MQ=255) gtcccATTTCACTGATAACCGCCAGCAAAGGAACTTCCCAGAGCATGACTTCACGCCACGGGCCGCTTAAACGAATACCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGa < 1:278779/146‑1 (MQ=255) aCCATTTCACTGATAACCGCCAGCAAAGGAACTTCCCAGAGGATGACTTCACGCCACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATa > 1:361085/1‑149 (MQ=255) tGATAACCGCCAGCAAAGGAACTTCCCAGAGGATGACTTCACGCCACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTa > 2:462361/1‑149 (MQ=255) ctgCCAACAAAGGAACTTCCCAGAGGAGGACTTCCCGACACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTaaagaaa < 2:650071/147‑1 (MQ=255) cGCCAGCAAAGGAACTTCCCAGAGGATGACTTCACGCCACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAACGGGACTCGCGTAACCAGTTACAAAAGTCGGCCTTaaagaaag > 2:238876/1‑149 (MQ=255) aGCAAAGGAACTTCCCAGAGGATGACTTCACGCCACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAggcag > 1:503092/1‑149 (MQ=255) gCAAACGAACTTCCCAGAGGATGGCTTCACGCCACGGGCCGGTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAggcagg < 1:337473/149‑1 (MQ=255) cAAAGGAACTTCCCAGAGGATGACTTCACGCCACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAggcaggg < 1:488962/149‑1 (MQ=255) cAGAGGATGACTTCCCGCCACGGGCCGCTTAAATGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTg < 2:276522/149‑1 (MQ=255) cAGAGGATGACTTCACGCCACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGGTAGTCGGCCTTAAAGAAAGGCAGGGCAGCAAGCCACTg > 1:11061/1‑149 (MQ=255) cAGAGGATGACTTCACGCCACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTg > 1:154510/1‑149 (MQ=255) cAGAGGATGACTTCACGCCACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTg > 1:622172/1‑149 (MQ=255) gATGACTTCACGCCACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATAtt > 1:599138/1‑149 (MQ=255) cacgtcccgcgACGGGCCGATTAAACGAATATCCAGCTTGCCTTCATCGTTGGACACGGTGACTTGTTCCGGGTTATAGCGGAACCCGCGTAACCAGTTAAGATAGGCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATtcat < 1:238876/142‑1 (MQ=255) aCTTCACGCCACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATtcatc < 1:384617/149‑1 (MQ=255) aCTTCACGCCACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATtcatc < 1:627834/149‑1 (MQ=255) cTTCACGCCACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATtcatca > 1:509911/1‑149 (MQ=255) ttCACGCCACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGGAGGGCGGAAAGCCACCGATATTcatcat > 2:654726/1‑149 (MQ=255) ttCACGCCACGGGCCGCTTAAACGAATATCCAGCTTGCCATAATCGTTGGACACGGTCACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTcatcat > 1:467437/1‑149 (MQ=255) cACGCCACGGGCCGCTTAAACGAATATCCAGTGTGCCATTATCGGTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATcc < 2:96747/149‑1 (MQ=255) accccACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCt < 2:59472/146‑1 (MQ=255) cACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGCACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAg > 1:77122/1‑149 (MQ=255) ggCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGgcgc > 1:598867/1‑149 (MQ=255) ccGCTCAAACGATTATCCAGCTTTCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAATGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAg < 1:111216/149‑1 (MQ=255) cGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAgg > 1:662899/1‑149 (MQ=255) ctcaaaCGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGtg > 2:123970/4‑149 (MQ=255) tAAACGAATCTCCAGCTGGCCATTATCGTTGGACACGGTTACTTGCTCCGGGTGAAAGGGGAACTCGCGTAACGAGTGAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTTATTTTCATCATCCTGCAGGCGCAGGtgct < 2:317591/149‑1 (MQ=255) aaCGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTaaagaaag > 2:635752/1‑99 (MQ=255) aaCGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGtgctgc > 1:558255/1‑149 (MQ=255) aaCGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATACTCGGCCTTaaagaaag < 1:635752/99‑1 (MQ=255) gAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATc > 2:105766/1‑149 (MQ=255) aGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGAATCGCCTAAAc > 2:357033/1‑149 (MQ=255) aGCTTGCCATTATCGGTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATCGCCTGAAc < 1:716567/149‑1 (MQ=255) cATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACAAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATCGCCTGAACCTGTTCa > 2:308032/1‑149 (MQ=255) cATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACAAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATCGCCTGAACCTGTTCa > 2:308125/1‑149 (MQ=255) ttATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCACAGGTGCTGCATCGCCTGAACCTGTTCACg > 2:3959/1‑149 (MQ=255) aTCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAACGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATCGCCTGAACCTGTTCACGaa < 2:647128/149‑1 (MQ=255) aTCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATCGCCTGAACCTGTTCACGaa < 2:431402/149‑1 (MQ=255) aTCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATCGCCTGAACCTGTTCACGaa < 1:32264/149‑1 (MQ=255) aTCGTGGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATCGCCTGAACCTGTTCACGaa < 1:88881/149‑1 (MQ=255) gTTGGACACGGTGACTTGTTCCGAGTTAAAGCAGAACTCGCGGAAACAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATCGCCTGAACCTGTTCACGAATAg > 1:576802/1‑149 (MQ=255) acacGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCGGAAAGCCACTGATATTGATCATCCTGCAGGCGCAGTGGTTGCATCGACTGAACCCGTTCACGAATAGCATCg > 2:493821/1‑149 (MQ=255) acGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATCGCCTGAACCTGTTCACGAATAGCATCGGc > 2:570886/1‑149 (MQ=255) gTTCCGGGTTAAAGCGGAACTCGGGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATCGCCTGAACCTGTTCACGAATAGCATCGGCATAAATAccc < 1:454552/149‑1 (MQ=255) ccGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATCGCCTGAACCTGTTCACGAATAGCATCGGCATAAATACCcagc < 1:308631/149‑1 (MQ=255) cGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATCGCCTGAACCTGTTTACGAATAGCATCGGCATAAATACCaagaa > 1:459290/1‑147 (MQ=255) aaGCGGAACTCGCGTAACAAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATCGCCTGAACCTGTTCACGAATAGCATCGGCATAAATACCCAGCAGATCGTc < 1:308125/149‑1 (MQ=255) aaGCGGAACTCGCGTAACAAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATCGCCTGAACCTGTTCACGAATAGCATCGGCATAAATACCCAGCAGATCGTc < 1:308032/149‑1 (MQ=255) aGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATCGCCTGAACCTGTTGCGTTGTTGCATCGGCATAAATACCCAGCAGATCGTCa < 2:703596/149‑1 (MQ=255) aGCGCAACTCGCGTAACCAGCTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAAAAAGCCACTGATATTCATCATCCTGCAAGCGCAGGTCCACCACCGCCTGAACCTGTTTACGAATATCATCGGCATCATTACCCAGCATATCGTCa > 2:114144/1‑149 (MQ=255) tCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATCGCCTGAACCTGTTCACGAATAGCATCGGCATAAATACCCAGCAGGTCGTCACCTCGGCa > 1:590429/1‑149 (MQ=255) tAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATCGCCTGAACCTGTTCACGAATAGCATCGGCATAAATACCCAGCAGATCGTTACCTAGGCacagac > 1:542342/1‑144 (MQ=255) aCCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATCGCCTGAACCTGTTCACGAATAGCATCGGCATAAATACCCAGCAGATCGTCACCTCGGCAACGAAAc < 1:670289/149‑1 (MQ=255) ccAGTTAAGATAGTCGGCCTTAAAGAAAGACAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATCGCCTGAACCTGTTCCCGAATAGCATCGGCATAAATACCCAGCAGATCGTCACCTCGGCAACGAAACt > 2:121825/1‑149 (MQ=255) | ATAGCGATGTACCATTTCACTGATAACCGCCAGCAAAGGAACTTCCCAGAGGATGACTTCACGCCACGGGCCGCTTAAACGAATATCCAGCTTGCCATTATCGTTGGACACGGTGACTTGTTCCGGGTTAAAGCGGAACTCGCGTAACCAGTTAAGATAGTCGGCCTTAAAGAAAGGCAGGGCAGAAAGCCACTGATATTCATCATCCTGCAGGCGCAGGTGCTGCATCGCCTGAACCTGTTCACGAATAGCATCGGCATAAATACCCAGCAGATCGTCACCTCGGCAACGAAACT > NC_000913_3_hsa_tpiA/989949‑990244 |
| Alignment Legend |
|---|
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: ‑ |