| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 3,560,455:1 | +G | 100% | intergenic (‑2/+1) | glpR ← / ← glpR | pseudogene, DNA‑binding transcriptional repressor;regulator; Energy metabolism, carbon: Anaerobic respiration; repressor of the glp operon/pseudogene, DNA‑binding transcriptional repressor;regulator; Energy metabolism, carbon: Anaerobic respiration; repressor of the glp operon |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 3,560,455 | 1 | . | G | 97.6% | 130.3 / ‑3.0 | 41 | intergenic (‑2/+1) | glpR/glpR | pseudogene, DNA‑binding transcriptional repressor;regulator; Energy metabolism, carbon: Anaerobic respiration; repressor of the glp operon/pseudogene, DNA‑binding transcriptional repressor;regulator; Energy metabolism, carbon: Anaerobic respiration; repressor of the glp operon |
| Reads supporting (aligned to +/- strand): ref base . (1/0); new base G (12/28); total (13/28) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 3.17e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.42e-01 | |||||||||||
| Rejected as polymorphism: E-value score below prediction cutoff. | |||||||||||
| Rejected as polymorphism: Frequency below/above cutoff threshold. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
ATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGT > NC_000913_3_hsa_tpiA/3560313‑3560586 | atCGATAAGCAGCGGCGAGCCACTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCGTTTTCGTGGGCCGTGGTGGCCTTGCGATCGTGCCACGGCTTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGa < 2:105940/149‑1 (MQ=255) aTAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAg > 1:305191/1‑149 (MQ=255) acGAGTCATTGTGGATTGGCTCCGGCACTTTGCCGGCGATGTGATCTTTTGCGTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACGGGAAGGTAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTcc < 2:330796/148‑1 (MQ=255) gAGCCATTGGGGATTTGCTCCGCCACTTGGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGc < 1:198200/149‑1 (MQ=255) ggggATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCAt > 1:642539/1‑149 (MQ=255) tttGTTCCGTCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAgg < 2:279745/149‑1 (MQ=255) tttGCTCCGCCACGTTGCGGGGGATGCGCTCTTTTTCTTCGGTCGGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAgg < 2:565420/149‑1 (MQ=255) cTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTcgc < 1:669976/149‑1 (MQ=255) tctgCCTCTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTcgcg < 1:347648/146‑1 (MQ=255) tCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCCGCTCATTGAGGTcgcg > 1:300745/1‑149 (MQ=255) gCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTCCGATCGTGCCACGGCGTGTTAACCGAACTGGAATGCAGCGCCGCACCGCCATGAT‑GGCGCCGGACCCGGTTTTGCCCCGCCCGCTCATCGACGTcgcgccc > 2:312711/1‑146 (MQ=255) tGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTc < 1:554981/149‑1 (MQ=255) ggCGATGCGCTCTTTTTCTGCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCg < 1:159444/149‑1 (MQ=255) gCGATGCGCTCTTTTTCTTCCGTCTGTGTGTCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCgg < 1:580372/149‑1 (MQ=255) gcTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACg < 1:642773/149‑1 (MQ=255) gctTTTTCTTTGGTCTGGGTGGGCTGGCGATCGTGCCACGGTGTGTTAACCGCACTGGAAGGCAGCGCCACACCGCCATGAT‑GGCGCAGTATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGga < 1:51715/148‑1 (MQ=255) tttCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGgagaca > 1:179461/1‑147 (MQ=255) tctgcGGTCTGCGTGGCCTTGCGAGCGGGCCACGGCGTGTTTATCGTATTGGAAGGCAGCGTCGTACCGCGATGAT‑GGCGCGGGATCAGGTTTTGCTCCGTCAGCTCATTGAGGTTGCGGCGGATAGTCTGCGGGCTGACGGAGAAATg < 2:614212/149‑1 (MQ=255) ttcGGTCTGGGTGGCCTTGCGCTCGTGCCCCGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGct < 1:228213/149‑1 (MQ=255) ttcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGCT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATggc > 1:485020/1‑147 (MQ=255) ccatGCTATCGGGCCACGGCGTGGTAACCGGACTGGAAGGCAGCGCCGGGCCGCCATGTT‑GGCGAAGGATCAGGTTTTGCTCCGCCAGTTCATTGAGGTCGCGGCGAATAGTCTGCTGGCTGACGGAGAAATGCTCTACCAGCTCTTCg < 2:618/146‑1 (MQ=255) ccTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGGG‑CAGGATGAAGTTTTGCTCCGCCACCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCGCACGCCGCAATGCTCTCCCAGCTCTTCg > 2:266292/1‑149 (MQ=255) ttGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGt > 1:419810/1‑149 (MQ=255) gtggTGCCACGTCGCGTTACCCGATTTGTGTGTCGGCGTCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGa < 1:331224/146‑1 (MQ=255) aTCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGa < 1:694024/149‑1 (MQ=255) tCGAGCCACGGCGTGGTCACCGAACTGGAAGGCACCGCCGCACCGCCATGAT‑GGCGGACCATCAGGTGTTGCTCCGCCAGCTCATCGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGAc < 1:335524/149‑1 (MQ=255) gCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCCGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTATACCCGCTCTTCGGTACTCAcgtga > 1:343703/1‑145 (MQ=255) cACGGCGTTTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAAcc < 1:66115/149‑1 (MQ=255) ggCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCACTGCTATGAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCctg > 1:335618/1‑149 (MQ=255) cGTGGTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTGCGTTAGCTCTTCGGTACTGACATAACCctgct < 1:167734/149‑1 (MQ=255) tggtagccGAACTGGAAGGCAGCGCCGCACCGCCACGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGt < 1:282614/143‑1 (MQ=255) gaaCCGGACGGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAACAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTa < 1:241186/148‑1 (MQ=255) aCCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAAc < 1:126981/149‑1 (MQ=255) aaCTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGt < 1:200450/149‑1 (MQ=255) aaCTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGAACAGGTTTTGCTCCGCCAGCTCATTGAGGTGGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCGCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGt > 2:311972/1‑149 (MQ=255) cTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCACCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCATGCCGTCTAACGAGATc > 1:241358/1‑149 (MQ=255) gAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCGCCGCCAGCACATTAAGGTCGCGGCGAAAAGTCTGCGGGCTGACGCAGAAATGCCCTACCAGCTCTTCGGTACTCTCATAACCCTGGTGTTTAACCacgtcaat > 2:55850/1‑142 (MQ=255) aGGCAGCGCCGTACCGCCATGAT‑GGCGGAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCTAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCCCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGataa < 2:541987/149‑1 (MQ=255) aGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGataa < 1:199069/149‑1 (MQ=255) gCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGataata < 1:242772/149‑1 (MQ=255) cgcACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTtgt < 1:324957/149‑1 (MQ=255) | ATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGT > NC_000913_3_hsa_tpiA/3560313‑3560586 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |