| 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 | 97.6% | 129.9 / NA | 42 | 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); major base G (17/23); minor base T (0/1); total (18/24) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.89e-01 | |||||||||||
GATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGC‑CAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTGTGT > NC_000913_3_hsa_tpiA/3560316‑3560596 | gATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACGGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCa > 1:21834/1‑149 (MQ=255) aTAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAg < 2:351525/149‑1 (MQ=255) aaaCAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑t < 1:490615/149‑1 (MQ=255) agcAGCGTCGTGCCATTGGGGATTGGCGCCGGCACTTTGCGGGCGATGCGCTCTGTTTCTTCGGTCTGGGGGGCGTTGCGGTCGTGCCACGGCGTGGTAGCCGAACTGGAAGGCAGCGGGGCACCGCCATGATGGCGCAGGATCAGG‑tt < 1:615125/147‑1 (MQ=255) aaCAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑tt < 2:497512/149‑1 (MQ=255) gCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCa > 1:529963/1‑149 (MQ=255) aTTTGCTCGGGCGCTTTGTGGGCCATGCGCTTTTTTTCTTCGGTCTGGGTGGCTGTGCGATGGTGCCACTGCGTGTCAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAg < 2:467391/149‑1 (MQ=255) aTTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAg < 1:403752/149‑1 (MQ=255) ccACTTTGCGGGCGAAGCGCTCTTTTTCTTCCGTCTGGGTGGCCTTGCGATCATGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGa < 2:504748/149‑1 (MQ=255) cTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATa > 2:750902/1‑149 (MQ=255) tttttCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGGGTTAACCGAACTGGAAGGCGGCGCCGCACGGACATGATGGCGCAGGGTAGGG‑TTTTGCTGCGGCAGCTCATGGGGGGGGCGGTGAATACTCTGCGCGCTggaggcga > 2:467746/1‑142 (MQ=255) ttcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGct > 2:591626/1‑149 (MQ=255) ttcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCACGGCGAATATTCTGCGCGCGGACGGAGAAATGct > 2:160926/1‑149 (MQ=255) tGGGGGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCTGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGTTCCGCCAGCTCATTGACGTCGCGGCGAATAGTCTGCGGGCTGACGCACAACTGCTCTACCAg < 2:785591/149‑1 (MQ=255) ggcTTGTGATCGTGCCAGGGCGTGTTAACCCAACTGGGAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTc < 2:200090/147‑1 (MQ=255) gCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTc > 2:435127/1‑149 (MQ=255) ccTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCg > 1:379865/1‑149 (MQ=255) cTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCgg < 1:288571/149‑1 (MQ=255) cTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCgg > 1:220396/1‑149 (MQ=255) gATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCCGGCCGAGC‑GTTTGATCAGCCAATCGATTGAGGACGCGAGGAGTAGTCTTCGGGCTGACGGCGAAATACCCTACCAACTCTTCGctgctg > 2:534869/1‑149 (MQ=255) gATCGTGCCACGGCGTGATAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAGGGCGCAGGATCAGG‑TTTTGCCCCGCCAGCTCATTGAGGTCGCGGCGAATCGTCTGCCGGATGCAGGCGAAATCCTCTACCAGCTCTTCGGTAATg > 2:617780/1‑149 (MQ=255) ttCGGGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGGAATGCTCTACCAGCTCTTCGGTACTGa < 1:105550/148‑1 (MQ=255) aTCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGa < 1:106440/149‑1 (MQ=255) gCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCctgc < 2:379865/149‑1 (MQ=255) tgtTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGt < 1:410569/149‑1 (MQ=255) ttAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGttt > 1:586248/1‑149 (MQ=255) aaCCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTaa < 2:220396/149‑1 (MQ=255) aCCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAAc < 1:750902/149‑1 (MQ=255) ccGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCGTTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTc > 1:762857/1‑121 (MQ=255) ccGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCGTTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTc < 2:762857/121‑1 (MQ=255) ccGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAAcc < 1:690527/149‑1 (MQ=255) tGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTAATTGAGATCGCGGCGAATAGTCTGCGGGCTGACGGAAAAATGCTCTACCAGCTCTTCGGTCCTATCATAACCATGCAGTGTAACCAGTTCg > 1:728768/1‑149 (MQ=255) ggAAGGCAGCGCCGCACCGCCATGCTGGCGGAGGATCAGT‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGa < 1:85485/149‑1 (MQ=255) ggAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGa < 1:770545/149‑1 (MQ=255) aGGCAGCGCCGCACCGCCATGATAGC‑CAACCGTAGGTTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGctaa > 1:861973/1‑149 (MQ=255) tcAGTGCCGCACCGCCATGATGTCTCAGTATCACG‑TTTTCGTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTTCCGGCTGACCGAGAAATCCTCTACCAGCTCTTCGTTACTTACATAACCCTGCTGTTTAACCAGTTCGataata < 2:112281/148‑1 (MQ=255) aGCGCCGCCCCGCAATGATGGCGCACGATCACG‑TTTTGCTCCGCCAGCTCATTGCGGTCGCTGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATAcc < 2:234615/149‑1 (MQ=255) cgcACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCCGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTCCTGACATAACCCTGCTCTTTAACCAGTCCGGTAATACCGTtgt > 2:41232/1‑149 (MQ=255) cgcACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTtgt < 2:529963/149‑1 (MQ=255) gcACCGCCATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTtgtg > 1:196765/1‑149 (MQ=255) cATGATGGCGCAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTtgt > 1:805066/1‑149 (MQ=255) tgatgGCGCAGGATGAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGTAGAAATGCTCTACCAGCTCTTCGGTACTTACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTgtgt < 2:769427/149‑1 (MQ=255) | GATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGC‑CAGGATCAGG‑TTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTGTGT > NC_000913_3_hsa_tpiA/3560316‑3560596 |
| 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: ‑ |