| 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 | 97.1% | 80.1 / ‑2.7 | 34 | 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 (14/19); total (15/19) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.41e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 4.56e-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. | |||||||||||
CAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGC‑CA‑GGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGA > NC_000913_3_hsa_tpiA/3560322‑3560588 | cAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCAGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGACCGTGCCACGGCGTGTTAACCGAACGGGAAGGCAGCGCCGCACCGCCATGATGGCGCA‑GGATCaaggtgc > 1:135549/1‑143 (MQ=255) tcGTCGCGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTCGAAGGCAGCGCCCCACCGCCATGATGGCGCA‑GGATCAGGTTTTGc < 1:486827/148‑1 (MQ=255) gCCATTGGGGATTGGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCA‑GGATCAGGTTTTGCTCCGCCa < 2:446274/149‑1 (MQ=255) ttGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGC‑GAGGGATCAGGTTTTGCTCCGCCAGCTc > 1:72275/1‑149 (MQ=255) gATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGGGCGTGCCACGGCGTGTCCCCGCCGCTGGCAGGCAGCGCCGCACCGCCAAAACCACGAA‑GGATCACGTTTTGCTCCGCCCGCCCAttca > 2:220113/1‑147 (MQ=255) gATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCA‑AGACCCGGTTTTGCTCCGCCAGCTCAtcaa > 2:198916/1‑146 (MQ=255) aTTGGCTCCGGCACTTTGTGGGCGGTGGGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCA‑GGATCAGGTTTTGCTCCGCCAGCTCATTGAg < 2:60342/149‑1 (MQ=255) tttACTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGGCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCA‑GGATCAGGTTTTGCTCCGCCAGCTCATTGAgg < 1:294154/149‑1 (MQ=255) tCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCA‑GGACCAGGTTTTGCTCCGCCCACTCATTGAGGTcacg > 2:82151/1‑149 (MQ=255) cGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGACCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCA‑GGATCAGGTTTTGCTCCGAACGAACATTGAGGTCgcggc > 1:232367/1‑149 (MQ=255) ggtggtGCGGTCTTTTTCTTCGGGCTGTGGGGGCTTGCGATCGTTGCACGGCGTTTTAACAGAACCGGCAGGCAGCGGCGCACCGACATGATGGCGCA‑GGATCAGGTTTTGCGCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCg < 2:121458/144‑1 (MQ=255) ttcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCA‑GGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGct > 1:192851/1‑149 (MQ=255) ttcGGTCTGGGTGGCCTTGCGATCGTGACAAGGCGTGTTAACCGAACTGGAAGGCAGCGACGCACTGCCATGATGGCGCA‑GGATCAGGCTTGGCTCCGCCAGGCCATTCACGTCACGTCAAATAATCCGCGGGCCGACGAAGCAAAGcg > 2:360865/1‑148 (MQ=255) tcgtgcggggTGGCCTTGCGATCGTGCCACTGCGTGTTGACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCA‑GGATCAGGTTTTGCTCCGCCAGCTCAGTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGctc < 2:125501/142‑1 (MQ=255) tcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCA‑GGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGctc < 1:157120/149‑1 (MQ=255) cTTGCGATCGTGCCACGGCGTGTTAACCGACCTGGAAGGCAGCGCCGCACCGCGATGATGGCGCA‑GGGTCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGAGGGAGATATACTCTACCAGCTCTTCgg > 1:402061/1‑149 (MQ=255) cTTACGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCA‑GGAACAGCTTTGGCTCCGCCAGCCCATTGACGTCGAGGCGAATAGTCTGAGGGCTGACGGAGAAATGCTCTAGCAGCTCTTCgg > 2:525197/1‑149 (MQ=255) ttGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCA‑GGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGt > 2:507799/1‑149 (MQ=255) cGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCA‑GGATCAGGTTTTGCTCCGCCAGCCCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGTGAAATGCCCTACCAGGTTTTCGGGACt < 2:518541/149‑1 (MQ=255) aTCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCA‑GGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGa < 1:155070/149‑1 (MQ=255) aTCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCA‑GGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGa < 1:417913/149‑1 (MQ=255) aTCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCAATGATGGCGCA‑GGATCAGGTTTTGCTGCGCCAGCTCATTTGGATCGCGACGAATAGTCTGCGGGCTGACGGCCACAGTCTCTCACAGCTCTGCGTTACtaa > 2:304377/1‑147 (MQ=255) cACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCA‑GGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGTCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAAcc < 2:565632/149‑1 (MQ=255) cACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCA‑GGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAAcc < 2:566307/149‑1 (MQ=255) gCGGGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCA‑GGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCctgc < 1:446370/149‑1 (MQ=255) cGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCA‑GGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCctgct < 1:314381/149‑1 (MQ=255) ggtTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCA‑GGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGt < 1:285171/148‑1 (MQ=255) aCCCAACTGGAAGGCAGCGGCGCAGCGTCAGGATTGCGCA‑GGATCAGGTTTTGCTTCTCCTGCTCATTGAGGTGCCGGCTAATAGTATGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGGACTGACATAACCCTGCTGTTTAAc < 2:230376/149‑1 (MQ=255) aCTGGAAGGCAGCGCCGCACCGCCATGATGGCGCA‑GGGTCAGGTTATGTTGCGCCATCTTATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGtt < 2:592132/149‑1 (MQ=255) aaGGCCGCGCCGCCGCTCCATGATGGCGCA‑GGATTAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCGGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGata < 2:268336/149‑1 (MQ=255) gccgaggcgcACCGCCATGATGGCGCA‑GGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATACACTTGCTGTTTAACTCGTTCGctatta > 2:104426/8‑149 (MQ=255) aGCGCCGCACCGCCATGATGGCGCA‑GGAGCAGGTTTTGCTCCGCCAGCTCATTGCTGCCGCGACTATTAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATAcc < 1:295561/149‑1 (MQ=255) cgccgcACCGCCATGATGGCGCA‑CGATCAGGTTTTGCGACGCCAGCTCATTGAGGTCGCGGCGCATAGTCTGCGGGCTGACGGGGAGATACTCTACAAGCTCTTCGGTACTGACCCCACCCTGCGGTGTAACCAGTTAGATAAAAACGt > 2:224542/1‑149 (MQ=255) cACCGCCATGATGGCGCA‑GGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCTGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGCCATAACCCTGCTGTTTAACCAGTTCGCTAATACCGATCTGa > 1:263142/1‑149 (MQ=255) | CAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGC‑CA‑GGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGA > NC_000913_3_hsa_tpiA/3560322‑3560588 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |