| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 3,560,455 | +G | 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 | 92.9% | 87.9 / ‑0.8 | 28 | 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 . (0/2); new base G (15/11); total (15/13) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 2.06e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.95e-01 | |||||||||||
GATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACG > NC_000913_3_hsa_tpiA/3560310‑3560590 | gATATCAATAAACAGCGTCGAGGCATTGGGGATTTGCTCCGCCAGTTGGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGGACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGcgca < 2:531728/149‑4 (MQ=255) tatCGATAAGCGGCGTCGGGCCATTGGGGATTTGCTCCGCCACTCTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGcgcagg < 2:396800/149‑6 (MQ=255) tAAACAGCGTCGAGCCATTGGGTATTTGCTCTGCTACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAgg < 1:166366/149‑1 (MQ=255) gCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGc < 1:553170/149‑1 (MQ=255) gAGGCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGc < 1:86352/149‑1 (MQ=255) aTTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCt < 1:225303/149‑1 (MQ=255) ggATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCCCGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCGCCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCGCATTg > 1:318991/1‑149 (MQ=255) cTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GACGCAGGATCAGGTTTTGCTCCGCCCGCTCATTGAGGTcgc > 2:532549/1‑149 (MQ=255) cGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCgcggc < 1:504298/149‑1 (MQ=255) cGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTg < 1:248307/149‑1 (MQ=255) gcgcTCTTTTTCTGCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGa < 2:489125/149‑1 (MQ=255) cgcTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTCACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATAAGGTTGTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATTGTCTGCCGGCTgtc > 2:480379/1‑147 (MQ=255) cgcTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACGCGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGAc > 2:479893/1‑149 (MQ=255) cctctTTGTTTTAGGGCTGGGTTCACTTGCGATCGTGCCACGGCGTTTTAACCGACCTGGAAGGCAGCGCCGCACCGCCA‑CGATGGGT‑CAGGATCAGGTTTTGCTCCGCCAGCTGATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACg < 2:318991/148‑1 (MQ=255) ctTTTTCTTCGGTCGGGGTGGCCTTACGATCGTGCCACGGCGTGTAAACCGAACTTGAAGGCCGCGCCGTGCCTCCAGTAAA‑GCC‑CGTGGGGAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGgag < 1:660678/149‑1 (MQ=255) cttcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGc > 2:650002/1‑149 (MQ=255) cttcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGc > 1:26017/1‑149 (MQ=255) ttcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGct > 1:82543/1‑149 (MQ=255) tttGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTAcc < 2:635160/147‑1 (MQ=255) gggTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGc > 1:78754/1‑149 (MQ=255) gTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGctc > 1:35566/1‑149 (MQ=255) gCGAGCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTAc < 2:639588/149‑1 (MQ=255) aTCGTGCCACGGCGTGTTAACCGAACTGGCCAGCTCCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGa > 2:647896/1‑149 (MQ=255) gTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAAt > 2:349032/1‑122 (MQ=255) gTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAAt < 1:349032/122‑1 (MQ=255) gTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACAt > 1:384045/1‑149 (MQ=255) aaCCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTCCTGACATAACCCTGCTGTTTaa > 2:127861/1‑149 (MQ=255) ggAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGa > 2:357058/1‑89 (MQ=255) ggAAGGCAGCGCCGCACCGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGa < 1:357058/89‑1 (MQ=255) ccGCCA‑TGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACg > 2:388333/1‑149 (MQ=255) | GATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCA‑TGAT‑GGC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACG > NC_000913_3_hsa_tpiA/3560310‑3560590 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |