| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 153,785 | T→A | 7.7% | S548C (AGT→TGT) | htrE ← | putative outer membrane usher protein |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 153,785 | 0 | T | A | 7.7% | 173.2 / 5.0 | 52 | S548C (AGT→TGT) | htrE | putative outer membrane usher protein |
| Reads supporting (aligned to +/- strand): ref base T (25/23); new base A (2/2); total (27/25) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.50e-01 | |||||||||||
GGAAACCTGAAGTACGTTGTTCAGTGCCAAGTAATTTTTCAATTGGAATGGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCAACGGTTGGTTAATACTGACCGTAACCTGATTTTTCATGCGTGAGTAAT > NC_000913_3_hsa_tpiA/153641‑153934 | ggAAACCTGAAGTACGTTGTTCAGTGCCAAGTAATTTTTCAATTGGAATGGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGc < 1:217898/150‑1 (MQ=255) aGTACGTTGTTCAGTGCCAAGTAATTTTTCAATTGGAATGGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTa < 4:201970/150‑1 (MQ=255) gTACGTTGTTCAGTGCCAAGTAATTTTTCAATTGGAATGGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTaa > 2:575488/1‑150 (MQ=255) tACGTTGTTCAGTGCCAAGTAATTTTTCAATTGGAATGGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGATTAAt > 4:339073/1‑150 (MQ=255) tACGTTGTTCAGTGCCAAGTAATTTTTCAATTGGAATGGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAAt > 4:99375/1‑150 (MQ=255) tgttCAGTGCCAAGTAATTTTTCAATTGGAATGGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTa < 2:475663/150‑1 (MQ=255) ttCAGTGCCAAGTAATTTTTCAATTGGAATGGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACg < 3:366332/150‑1 (MQ=255) gTGCCAAGTAATTTTTCAATTGGAATGGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGAttt > 3:119415/1‑150 (MQ=255) tGCCAAGTAATTTTTTTTTTTTTTTTGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGTCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGAtttt > 2:15990/1‑150 (MQ=255) aaGTAATTTTTCAATTGGAATGGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTcc < 1:550765/150‑1 (MQ=255) aTTTTTCAATTGGAATGGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACAGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAg > 1:11077/1‑150 (MQ=255) aTTTTTCAATTGGAATGGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACAGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAg > 1:11139/1‑150 (MQ=255) aaTTGGAATGGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTa > 3:213683/1‑150 (MQ=255) aaTTGGAATGGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTa > 4:384467/1‑150 (MQ=255) aaTTGGAATGGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATCTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTa < 3:315099/150‑1 (MQ=255) tGGAATGGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATc < 4:177452/150‑1 (MQ=255) aaTGGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGa < 4:298364/150‑1 (MQ=255) aaTGGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGa < 2:232164/150‑1 (MQ=255) aTGGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACAGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGAc < 2:11077/150‑1 (MQ=255) aTGGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACAGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGAc < 2:11139/150‑1 (MQ=255) tGAAACTAGGTTAAACGCTATCGTCAGTGTAGTTGTCTTCATTCCATGAACGCTGGGCACTGTCATTGTAGCTGACCCAGTATGTACTGTCACTGTAGCCAATAGAGTAAATGCTACGATTTGGTCCGGTAGCCCAGTAATCGCACCatc < 2:285318/150‑3 (MQ=255) aaCTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTc < 4:284615/150‑1 (MQ=255) tAAGATAAACGCTATCATCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCgg > 2:294926/1‑150 (MQ=255) aCGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATaa > 1:106160/1‑150 (MQ=255) aTCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGa > 2:104350/1‑150 (MQ=255) tCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCt > 2:282360/1‑150 (MQ=255) tCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCt > 3:302657/1‑150 (MQ=255) tCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCt > 3:302656/1‑150 (MQ=255) tCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTtc > 4:68730/1‑150 (MQ=255) ttCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAAt > 2:332132/1‑150 (MQ=255) ttCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAAt > 3:324990/1‑150 (MQ=255) aTGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCa < 2:163512/150‑1 (MQ=255) aTGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCa > 4:263744/1‑150 (MQ=255) tGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCaa < 1:141714/150‑1 (MQ=255) tGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCaa < 4:12549/150‑1 (MQ=255) tGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCaa < 3:279047/150‑1 (MQ=255) tGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCaa > 1:20740/1‑150 (MQ=255) tGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCaa < 1:58727/150‑1 (MQ=255) gCTGGGTACTGACACTGTAGCTGCACGAGGATGTACAGTTACTGTAGCCAATGGAGTAATTGATACGATTTTGTCCGAAAGCCCAGGAATCGGTCCAACATCCGGAAAGATAAAATGAACCGTAAACTTTTTTCTCAAGTTTCAACggtt < 2:504996/150‑1 (MQ=255) tGGGCACTGCCACTGTAGGTTCCTCAGTATGTACTGTTCCTGTAGCCAATTCTGCAATTGCTCCGCTTTTGTCCCGAAGCTCAGTAATCGGACCAACTTCCGGAAAGTTAAAATGAACCGTAATCTTTTTTCTCAAATTTCAACggttgg < 4:172525/150‑1 (MQ=255) cTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGAAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCAACGGTTGGTTAATa < 4:78414/150‑1 (MQ=255) tGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCAACGGTTGGTTAATAc > 3:322206/1‑150 (MQ=255) acTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCAACGGTTGGTTAATACTGAc < 1:77328/150‑1 (MQ=255) cTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCAACGGTTGGTTAATACTGAcc > 4:54807/1‑150 (MQ=255) tGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAGGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCAACGGTTGGTTAATACTGACCg > 1:1759/1‑150 (MQ=255) tAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTGTCAAATTTCAACGGTTGGTTAATACTGACCGTa > 1:21498/1‑150 (MQ=255) gCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCAACGGTTGGTTAATACTGACCGTAAc > 1:46729/1‑150 (MQ=255) ccccAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCAACGGTTGGTTAATACTGACCGTAACCTGa < 2:544176/150‑1 (MQ=255) cccAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCAACGGTTGGTTAATACTGACCGTAACCTGAt > 3:32633/1‑150 (MQ=255) ggATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCAACGGTTGGTTAATACTGACCGTAACCTGAttttt > 3:94160/1‑150 (MQ=255) gATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCAACGGTTGGTTAATACTGACCGTAACCTGATTTTTc < 2:415642/150‑1 (MQ=255) tGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCAACGGTTGGTTAATACTGACCGTAACCTGATTTTTCAt < 1:243515/150‑1 (MQ=255) tactgttactgtAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCAACGGTTGGTTAATACTGACCGTAACCTGATTTTTCATGc > 4:112131/1‑150 (MQ=255) ttactgtAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACTGTAATCTTTTTTATAAAATTTAAAAAGTTGCATTATACTGATAGTAACGTGATTTTTCATGTGTGAg > 2:494030/1‑150 (MQ=255) tgtAGCCAATAGAGTAATTGCTACGATTTTTTCCGCAAGCCCAGTTATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATCTCAACGGTTGGTGAATACTGACCGTAACCTGCTTTTTTATGCGTGAGTAAt > 2:135731/1‑150 (MQ=255) tgtAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCAACGGTTGGTTAATACTGACCGTAACCTGATTTTTCATGCGTGAGTAAt > 4:198084/1‑150 (MQ=255) tgtAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTAAACGGTTGGTTAATACTGACCGTAACCTGATTTTTCATGCGTGAGTAAt > 2:141058/1‑150 (MQ=255) tgtAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTGCAACGGTTGGTTAATACTGACCGTAACCTGATTTTTCATGCGTGAGTAAt > 2:135708/1‑150 (MQ=255) | GGAAACCTGAAGTACGTTGTTCAGTGCCAAGTAATTTTTCAATTGGAATGGTGAAACTAAGATAAACGCTATCGTCAGTGTCGCCGTCTTCATTCCATGAACGCTGGGCACTGACACTGTAGCTGCCCCAGGATGTACTGTTACTGTAGCCAATAGAGTAATTGCTACGATTTTGTCCGGAAGCCCAGTAATCGGACCAACTTCCGGAAAGATAAAATGAACCGTAATCTTTTTTCTCAAATTTCAACGGTTGGTTAATACTGACCGTAACCTGATTTTTCATGCGTGAGTAAT > NC_000913_3_hsa_tpiA/153641‑153934 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |