| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_pgi | 4,182,791 | A→G | 54.3% | D516G (GAC→GGC) | rpoB → | RNA polymerase, beta subunit |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_pgi | 4,182,791 | 0 | A | G | 54.3% | 11.4 / 46.6 | 46 | D516G (GAC→GGC) | rpoB | RNA polymerase, beta subunit |
| Reads supporting (aligned to +/- strand): ref base A (15/6); new base G (9/16); total (24/22) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 2.10e-02 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.64e-01 | |||||||||||
GGTACGTGTAGAGCGTGCGGTGAAAGAGCGTCTGTCTCTGGGCGATCTGGATACCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGACCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGCCCAGGCGGTCTGACCCGTGAACGTGCAGGCTTCGAAGTTCGAGACGTACACCCGACTCACTACGGTCGCGTATGTCCAATCGAAACCCCTGAA > NC_000913_3_hsa_pgi/4182648‑4182939 | ggTACGTGTAGAGCGTGGGGTGAAAGGGCGTCTGTCTCTGGGCGATCTGGATACCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGACCAGa > 2:867217/1‑149 (MQ=255) gTACGTGTAGAGCGTGCGGTGAAAGAGCGTCTGTCTCTGGGCGATCTGGATACCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCGGCCAGCTGTCTCAGTTTATGGaaatgat > 2:905518/1‑143 (MQ=255) gtAGAGCGTGCGGTGAAAGAGCGTCTGTCTCTGGGCGATCTGGATACCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCAAGCTGTCTCAGATTATGGACCAGAACAAccc > 1:532869/1‑149 (MQ=255) gTGCGGGTAAAGAGCGTCTGTTTCTGGGCGATCTGGATACCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCATTGAGAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGACCAGAACAACCCGCTGTCt < 1:191305/149‑1 (MQ=255) gccgTGAAAGCGCCTCTGTCTCTTGGCGAGCTGGATACCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGGCCAGAACAACCCGCTGTCTga < 2:757961/146‑1 (MQ=255) cGGTGAAAGAGCGTCTGTCTCTGGGCGATCTGGATACCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGGCCAGAACAACCCGCTGTCTgag < 1:659778/149‑1 (MQ=255) tgggAAAGGGCGTCCGTCTCTGGGCGACCTGGCTACCCTACTGCCACAGTATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGGCCAGAACAACCCGCTGTCTgaga < 2:178348/146‑1 (MQ=255) aaaGAGCGTCTGTCTCTGGGCGATCTGGATACCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGGCCAGAACAACCCGCTGTCTGAGATTAc > 1:516631/1‑149 (MQ=255) gagCGTCTGTCTCTGGGCGATCTGGATACCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCAGTTCCAGCCAGCTGTCTCAGTTTATGGGCCAGAACAACCCGCTGTCTGAGATTACGca > 2:648611/1‑149 (MQ=255) ctgtctCTGGGCGATCTGGATACCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGACCAGAACAACCCGCTGTCTGAGATTACGCACAAAcg > 2:649978/1‑149 (MQ=255) gtctCTGGGCGATCTGGATACCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGGCCAGAACAACCCGCTGTCTGAGATTACGCACAAAcgtc < 1:685033/149‑1 (MQ=255) tctGGGCGATCTGGATACCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAGGAGTTCTTCGGTTGCAGCCAGCTGTATCAGCCTATTGACCAGAACAAGCCGATATCTGAGATTACGCACAAACGTCGTa > 1:943275/1‑149 (MQ=255) tGGGCGATCTGGATACCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGGCCAGAACAACCCCCTGTCTGAGATTCCGCCCAAACGTCGTAtc > 2:108152/1‑149 (MQ=255) cGATCTGGATACCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGACCAAAACAACCCGCTGTCTGAAATTACGCACAAACTTCGTATCTC‑Cg > 1:826955/1‑149 (MQ=255) aTCTGGATACCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCCGCCCGCTGTCTCAGTTTATGGACCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCa < 1:642206/149‑1 (MQ=255) tCTGGATACCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAATTTATGGAACAGAACAACGAGGTGTCTGAGATTACGCACAAACGTCTTATCTC‑CGCAc > 1:276406/1‑149 (MQ=255) gATACCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCATCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGACCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCgg > 1:488841/1‑149 (MQ=255) aTACCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGGCCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGc < 2:775453/149‑1 (MQ=255) aTACCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGGCCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGc < 1:746969/149‑1 (MQ=255) aCCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGACCAGAACAACTCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGccc < 1:905518/149‑1 (MQ=255) aCCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGATTCCAGCCAGCTGTCTCAGTTTATGGACCAGAACAACCCGCTGTCTGAGATTACGAACAAACGTCGTATATA‑CCCACTCGGccc > 2:536715/1‑149 (MQ=255) cTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGACCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGCCCAgg > 1:924181/1‑149 (MQ=255) cacaGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGGCCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACGCGGCCCAGGCGGTCTg > 2:767263/1‑149 (MQ=255) gATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGGCCAGAACAACCCGCTGTCTGAGATTACGCACaaa > 1:918398/1‑111 (MQ=255) gATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGGCCAGAACAACCCGCTGTCTGAGATTACGCACaaa < 2:918398/111‑1 (MQ=255) tGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGGCCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGCCCAGGCGGTCTGACCCGTGaa < 2:266930/149‑1 (MQ=255) aTCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGGCCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTAt < 1:854155/113‑1 (MQ=255) aTCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGGCCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTAt > 2:854155/1‑113 (MQ=255) tCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGGCCAGAACAACCCGCTGTCTGAGATTACGCACAACCGAAG‑AGCACACGCATGCGGCCAAGGAGGGCTGACCCGGGAACGt > 1:276078/1‑149 (MQ=255) cAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGGCCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGCCCAGGCGGTCTGACCCGTGAACGTg < 1:899659/149‑1 (MQ=255) aaGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCGAGCCAGCTGTCTCAGTGTAGGGGCCAGGACAACCCTCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACGCGGCCCGGGGGTGGTGGCCCGTGAACGTGCAAGcgt > 2:690079/1‑147 (MQ=255) ccGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGGCCAGAACAACCCGCTGTCTGAGATTACGCACAAACGGCGTATCTC‑CGCACTCGGCCCAGGCGGTCTGACCCGTGAACGTGCAGGCTTCGAAGTTCga < 1:130465/149‑1 (MQ=255) cagTGAAAGATTTCTTCCGTTCCACCCAGCTGTCTCAGTTTATGTGCCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGCCCAGGCGGTCTGACCCGTGAACGTGCAGGCTTCGAAGTTCGAGACGTa < 1:802401/149‑1 (MQ=255) cagTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGACCAGAACAACCCGCTGTCTGAGATTCCGCACAAACGTCGTATCTC‑CGCACTCGCCCCAGGCGGTCTAACCCGTAAACGTGCAGGCTTCGAAGTTCGAGATGTa > 1:51724/1‑149 (MQ=255) aaaGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGACCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGCCCAGGCGGTCTGACCCGTGAACGTGCAGGCTTCGAAGTTCGAGACGTAAAccc > 1:844794/1‑149 (MQ=255) agagTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGACCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGCCCAGGCGGTCTGACCCGTGAACGTGCAGCCATCCAAATTCGACACCTGCACCCGa > 2:299139/1‑149 (MQ=255) cGGTTCCAGCCAGCTGTCTCAGTTTATGGACCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGCCCAGGCGGTCTGACCCGTGAACGTGCAGGCTTCGAAGTTCGAGACGTACACTCCACTCACTACg > 2:275074/1‑149 (MQ=255) cagccagcTGTCTCAGTTTATGGGCCAGAACAACCTGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGCCCAGGCGGTCTGACCCGTGAACGTGCAGGCTTCGAAGTTCGAGACGTACACCCGACTCACTACGGTcgcg > 2:879423/1‑149 (MQ=255) cagccagcGGTCTCAGTTTATGGGCCAGAACAACCCGCTGTCTGAGATTACGCACAAACGGCGTATCTC‑CGCACTCGGCCCAGGCGGTCAGATCCGGCAACGTGTAGGCTTCGAAGTTCGAGACGTACACCCGACTCACTACGGTcgcg < 1:195899/149‑1 (MQ=255) gcggTCCCAGTTTATGGACCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGCCCAGGCGGTCTGACCCGTGAACGTGCAGGCTTCGAAGTTCGAGACGTACACCCGACTCACTACGGTCGCGTATGTc < 1:921236/146‑1 (MQ=255) ttcAGTTTATGGGCCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGCCCAGGCGGTCTGACCCGTGAACGTGCAGGCTTCGAAGTTCGAGACGTACACCCGACTCACTACGGTCGCGTATGTCCAATc < 1:979042/148‑1 (MQ=255) cttaGTTTATGTACCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGCCCAGGCGGTCTGACCCGTGAACGTGCAGGCTTCGAAGTTCTAGACGTACACCCGACTCACTTCGGTCGCGTATGTCCAATc < 2:651930/146‑1 (MQ=255) ctcAGTTTATGGGCCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGCCCAGGCGGTCTGACCCGTGAACGTGCAGGCTTCGAAGTTCGAGACGTACACCCGACTCACTACGGTCGCGTATGTCCAATc < 1:946353/149‑1 (MQ=255) tcAGTTTATGGACCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGCCCAGGCGGTCTGACCCGTGAACGTGCAGGCTTCGAAGTTCGAGACGTACACCCTACTCACTACCGTCGCGTATGTCCAATCg > 2:53709/1‑149 (MQ=255) gTTTATGGACCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGCCCAGGCGGTCTGACCCGTGAACGTGCAGGCTTCGAAGTTCGAGACGTACACCCGACTCACTACGGTCGCGTATGTCCAATCGaaa < 1:649978/149‑1 (MQ=255) atttATGGGCCAGAACAACCCGCGGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGCCCAGGCGGTCTGACCCGTGAACGTGCAGGCTTCGAAGTTCGAGACGTACACCCGACTCACTACGGTCGCGTATGTCCAATCGaaa < 2:948242/148‑1 (MQ=255) tATGGACCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGCCCAGGCGGTCTGACCCGTGAACGTGCAGGCTTCGAACTTCGAGACGTACACCCGACTCACTACGGTCGCGTATGTCCAAACGAAAccc > 2:709652/1‑149 (MQ=255) aCCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGCCCACGGGATCCGTGCCGTGACCGTCCGAGCTTCGAAGTACGAGTCATACATCCCACTCACTACGGACGCAAATGTCCAATCGAAACCCCCGaa > 1:487155/1‑149 (MQ=255) | GGTACGTGTAGAGCGTGCGGTGAAAGAGCGTCTGTCTCTGGGCGATCTGGATACCCTGATGCCACAGGATATGATCAACGCCAAGCCGATTTCCGCAGCAGTGAAAGAGTTCTTCGGTTCCAGCCAGCTGTCTCAGTTTATGGACCAGAACAACCCGCTGTCTGAGATTACGCACAAACGTCGTATCTC‑CGCACTCGGCCCAGGCGGTCTGACCCGTGAACGTGCAGGCTTCGAAGTTCGAGACGTACACCCGACTCACTACGGTCGCGTATGTCCAATCGAAACCCCTGAA > NC_000913_3_hsa_pgi/4182648‑4182939 |
| 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: ‑ |