| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_pgi | 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_pgi | 3,560,455 | 1 | . | G | 97.1% | 94.0 / ‑3.7 | 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 . (0/1); new base G (14/19); total (14/20) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
| 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. | |||||||||||
TCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTGT > NC_000913_3_hsa_pgi/3560314‑3560594 | tCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGAt > 1:391941/1‑149 (MQ=255) gATAACCAGTGTTGTGCTATTGGGGATTTGTTCCGCTTCTTTGTGCGCGATGCGCGCTTTTCCTCCGGTCTGGGTGGCCTTGCGATCGTGCCACCGGCTGTTTACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCa < 2:110551/149‑1 (MQ=255) gATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCa > 1:416695/1‑149 (MQ=255) cttGGGGATTCGCTCCGCCACTTTGCGGGCGATGCGCTCTTTCTCTGCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCt < 1:268545/148‑1 (MQ=255) gatgtcatCCGTCATTTTGCGGGCGATGCGCGCTTTTTCTTCGGTCTGGGTGGGCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGa < 2:484830/142‑1 (MQ=255) tGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTc < 1:298061/149‑1 (MQ=255) ccGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGCTCgcgg > 2:548008/1‑149 (MQ=255) ttGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGt < 1:332342/149‑1 (MQ=255) gcgggcggTGCGCTCTTTTTCTTCGGGCTGGGTGGCCTTGCGATCGGGCCATGGCGTGTTAACCGAACTGGAAGGCAGCGCGGCACCACCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCt < 2:440761/149‑1 (MQ=255) ggCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGCAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAAGTCGCGGCGAATAGTCtccc > 2:509287/1‑146 (MQ=255) cGATGCGTTCGTTTTCTTCGGTCTGGGTTGCCTTGCGACCGTGCCACGGCCTGTTAACATAACTTTTAGTCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCggg < 1:320160/149‑1 (MQ=255) ccgcTTTTTTTCTTCGCTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTACCCGAGCTGGAAGGCAGCGCCGCGCCGCCATGA‑TGGCGCATGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGTCTgc < 1:632764/148‑2 (MQ=255) tttCGTCGGTCTGGGTTGCCTTGCGATCGTGCCACGGGGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGaaa < 2:208371/149‑1 (MQ=255) ttcGGTCTGGGTGGCCTTGCGATCGTGCGACGGCAGGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCGTGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGAGCTGACGGCGAAATGct > 2:552954/1‑149 (MQ=255) tCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCCCCGTGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTAcc < 1:154297/149‑1 (MQ=255) tGGGGGGCCTGGCGATGGGGCCACGGCGTGTGAACCGGACTGGATGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCGCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAg < 2:216177/149‑1 (MQ=255) cTTGCGATCGTGGAACGGGGGGTTAAACGAACTTGAAGGCATCGTTGCACTGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCTCCAGCTCATTGAGTTCGCGGCGAATAGTCTGCGTGCTGACGGAGAAATGCTCTACCATCGCTTCgg < 2:314291/149‑1 (MQ=255) ttGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGt > 1:104442/1‑149 (MQ=255) tGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTa < 1:155100/149‑1 (MQ=255) cgagagTGCAAGGGCGTGTTAACCAGAGTGGAGGGCAGCGCCGCACCGCCGTGA‑TGGCGCAGGATCAGGTTTTGCGCCGCCAGCTCATTGAGGGCGCGGCGAATAGTCTGCGGGCTGACGGAGATATGCTTTACCAGCTCGTCGGTACt < 2:43176/144‑1 (MQ=255) ctCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCGGGATCAGATTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCCTCGCTACTGa > 2:407854/2‑149 (MQ=255) aTCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATATGCTTCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGa < 1:95391/149‑1 (MQ=255) gTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGTTACTAACAt > 1:64757/1‑149 (MQ=255) gCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATaa < 1:566563/149‑1 (MQ=255) cACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAAcc > 1:641440/1‑149 (MQ=255) gtgtTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCctgctg < 1:58696/149‑1 (MQ=255) tgtCAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGt < 1:501864/149‑1 (MQ=255) ttAACCGAACTGGAAGGAAGCGCCGCACCGCCATGC‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGttt > 1:9980/1‑149 (MQ=255) gtgaCCGAAGTGGAACGCGGCGCCGCGCCGCCATGACGGGG‑CAGGATCAGGTTTTGCCCCCCCCGCTCCTTGAGGTGCCGGCGAATAGTCTGCGGGCTGCCGGATCATACCTCTACCTGCTGTTTGGTACTGACAGAATCCTGCTGttt < 2:392449/146‑1 (MQ=255) gAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCCGTTTAAcccg > 1:512900/1‑147 (MQ=255) aGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACACTGCTGTTTGACCAGTTCTataa > 2:111837/1‑149 (MQ=255) gccgcACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGGCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGtt < 1:476631/149‑1 (MQ=255) ccATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACAGGACCCTGCTGGTTAACCAGTTCGATAATACCGTTGTGACGTtg > 1:623582/1‑149 (MQ=255) cATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGttct > 2:36995/1‑147 (MQ=255) | TCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTGT > NC_000913_3_hsa_pgi/3560314‑3560594 |
| 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: ‑ |