| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_pgi | 1,466,201 | T→C | 21.4% | pseudogene (810/2513 nt) | ydbA → | pseudogene, autotransporter homolog; interrupted by IS2 and IS30 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_pgi | 1,466,201 | 0 | T | C | 21.4% | 46.5 / 9.5 | 32 | pseudogene (810/2513 nt) | ydbA | pseudogene, autotransporter homolog; interrupted by IS2 and IS30 |
| Reads supporting (aligned to +/- strand): ref base T (3/22); new base C (4/3); total (7/25) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 2.58e-02 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.25e-01 | |||||||||||
GTGATAATGCCACAGTAAACAACAATGGCAAAACCACCGTTGACGGTAAAGATTCCACCGGTACGGAAATCAACGGTAATAACGGGAAAGTGATTCAGGACGGCGATCTGGATGTCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGTGACAGCGCGACGGTGGATAACAAGGGCACCATGACCGTCACCGATCCGGAGTCCATGGGTATCCAGATCGACGGTGACAAGGCCATCGTCAATAACGAAGGCGAGAGCACCATCACCAACGGTGGCACCGGCACCCAGATTAATGGT > NC_000913_3_hsa_pgi/1466053‑1466348 | gTGATAATGCCACAGTAAACAACAATGGCAAAACCACCGTTGACGGTAAAGATTCCACCGGTACGGAAATCAACGGTAATAACGGGAAAGTTATTCAGGACGGCGATCTGGATGTCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGt > 1:284653/1‑149 (MQ=255) aaTGCCACAGTAAACACCAATGGCAAAACCACCGTTGACGGTAAAGATTCCACCGGTACGGAAATCAACGGTAATAACGGGAAAGTTATTCAGGACGGCGATCTGGATTTCATCGGCGGC‑GGTCACGGTATTGATATCACCGGTGACAg < 1:130907/149‑1 (MQ=255) aaTGACACAATAAACAACAATGGCAAAACCACCGTGGACGGTAAAGATTCCACCGGTACGGAAATCAACGGTAGTAACGGGAAAGTGATTCATGACGGCGATCTGGATGTCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGTGACAg < 2:469028/149‑1 (MQ=17) gCCACAGTAAACAACAATGGCAAAACCACCGTTGACGGTAAAGATTCCACCGGTACGGAAATCAACGGTAATAACGGGAAAGTGATTCAGGACGGCGATCTGGATGTCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGCGACAgcgc > 1:106903/1‑149 (MQ=255) cacaGTAAACAACAATGGCAAAACCACCGTTGACGGTAAAGATTCCACCGGGACGGAAATAAACGGTAATAACGGGAAAGTGATTCAGGACGGCGATCTGGATGTGAGCGGCGGC‑GGTCACGGAATAGATATCACCGGCGACAGCGCGa > 2:612044/1‑149 (MQ=14) aacaacAATGGCAAAACCACCGTTGACGGTAAAGATTCCACCGGTACGGAAATCAACGGTAATAACGGAAAAGTGATTCAGGACGGCGATCTGGATGTCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGCGACAGCGCGACGggggg > 2:254863/1‑148 (MQ=255) aaaaacagTGGCAAAACCACCGTTGACGGTAAAGATTCCACCGGTACCGAAATCAACGGTAATAACGGGAAAGTTATTCAGGACGGCGATCTGGATGTCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGCGACAGCACAACGGTGGa < 2:178962/146‑1 (MQ=11) aacaaTGGCAAAACCAGCGGTGACGGTAAAGATTCACCCGGTACGGAAATCAACGGTAATAACGGGAAAGTGATTCAGGACTGCGATCTGGACGTCAGCGGCGGC‑GGTCAAGGTATTGATATCACCTGTCACAGCGCGACGGTTGATaa < 2:493590/149‑1 (MQ=17) caaTGGCAAAACCACCGTTGACGGTAAAGATTCCACCGGTACGGAAATCAACGGTAATAACGGGAAAGTGATTCAGGACGGCGATCTGGATGTCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGTGACAGCGCGACGGTGGATcaca > 1:214739/1‑149 (MQ=255) tGGCAAAACCACCGTTGACGGTAAAGATTCCACCGGTACGGAAATCAACGGTAATAACGGGAAAGTGATTCAGGACGGCGATCTGGATGTCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGCGACAGCGCAACGGTGGATAACAAgg < 2:106903/149‑1 (MQ=19) tGGCAAAACCACCGTTGACGGGAAAGATTCCACCGGTACGGAAATCAACGGTAATAACGGGAAAGTGATTCAGGACGGCGATCTGGATGTCAGCGGCGGC‑GGTCACGGTGTTGATATCACCGGTGACAGCGCGACGGTGGATAACAAgg < 1:338709/149‑1 (MQ=255) tgaaaaCCACCGTTGACGGTAAAGATTACACCGGTACGGAAATCAACGGTAATAACGGGAAAGTGATTCAGGACGGCGATCTGGATGTCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGTGACAGCGCGACGGTGGATAACAAGGGc < 2:163645/147‑1 (MQ=255) accaccGTTGACGTTAAAGATTCCACCAGTACGGAAAACAAGAGTGGGAACGGGAAAGTGATTCAGGACGGCGATCTGGATGTCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGTGACAGCGCGACGGTGGATAACAAGGGCACCAt < 1:289698/149‑1 (MQ=14) caccGTTGACGGTAAAGATTCCACCGGTACGGAAATCAACGGTAATAACGGGAAAGTGATTCAGGACGGCGATCTGGATGTCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGCGACAGCGCAACGGTGGATAACAAGGGCACCATGa < 2:35520/149‑1 (MQ=18) cGTTGACGGTAAAGATTCCACCGGTACGGAAATCAACGGTAATAACGGGAAAGTGATTCAGGACGGCGATCTGGATGTCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGTGACAGCGCGACGGTGGATAACAAGGGCACCATGACCg < 1:496476/149‑1 (MQ=255) gACGGTAAAGATTCCACCGGTACGGAAATCAACGGTAATAACGGGAAAGTGATTCAGGACGGCGATCTGGATGTCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGTGACAGCGCGACGGTGGATAACAAGGGCACCATGACCGTCAc < 1:618080/149‑1 (MQ=255) cGGTAAAGATTCCACCGGTACGGAAATCAACGGTAATAACGGGAAAGTGATTCAGGACGGCGATCTGGATGTCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGTGACAGCGCGACGGTGGATAACAAGGGCACCATGACCGTCACCg < 1:598432/149‑1 (MQ=255) tAAATAGTCCACCGGTACGGAAATCAACGGTAATAACGGGAAAGTGATTCAGGACGGCGATCTGGATGTCAGCGGCGGC‑GGTCACGGTATTGATAGCACCGGTGACAGCGCGACGGTGGATAACAAGGGCACCATGACCGTCACCGATc < 2:267957/149‑1 (MQ=255) gATTCCACCGGGACGGAAATCAACGGTAATAACGGGAAAGTGATTCATGACGGCGATCTGGATGTCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGTGACAGCGCGACGGTGGATAACAAGGGCACCATGACCGTCACCGATCCGGa < 1:16481/149‑1 (MQ=255) cACCGGTACGGAAATCAACGGTAATAACGGGAAAGTGATTCAGGACGGCGATCTGGATGCCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGTGACAGCGCGACGGTGGATAACAAGGGCACCATGACCGTCACCGATCCGGAGTCCa < 2:419351/149‑1 (MQ=255) ccGGTACGGAAATCAACGGTAATAACGGGAAAGTGATTCAGGACGGCGATCTGGATGTCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGTGACAGCGCGACGGTGGATAACAAGGGCACCATGACCGTCACCGATCCGGAGTCCATg < 1:312636/149‑1 (MQ=255) cgggcaaaTTGGTTCAGGACGGGGGTCTGGATGTCAGCGGTGGC‑GGTCACGGTATTGATATCACCGGTGACAGCGCGACGGTCGATAACAAGGGCACCATGACCGTCACCGATCCGGAGTCCATGGGTATCCAGATCGACGGTGACAAg < 2:330569/144‑1 (MQ=14) cGGGAAAGGGATTCAGGACGTCCATCTGTTTGTCATCGGCGGC‑GCGCACGGTATTGATATCACCGGTGACAGCGCGACGGTGGACAACAAGCGCACCATGACCGTCACCGATCCGGAGTCCATGGGTATCCAGATCGACGGTGACAAgg < 2:367429/149‑1 (MQ=17) aaGTGATTCAGGACTGCGATCTTGCTGTCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGTGACAGCGCGACGGTGGATAACAAGGGCACCATGACCGTCACCGATCCGGAGTCCATGGGTATCCAGATCGACGGTGACAAGGCCATc < 2:179848/149‑1 (MQ=255) aTTCAGGACGGCGATCAGATTGACAGC‑GCGTCGGGTCGCGGTATTGAGATCAGCGGCGACAGCGCCACGGTGGATGACAAAGGCTCAATGACCGTCACCGATCCGGAGCCCATAGGTATCCAGATCGACGGTGACAAGGCAATCGTCaa > 2:547244/1‑149 (MQ=2) ggCGATCTGGATGTCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGTGACAGCGCGACGGTGGATAACAAGGGCCCCATGACCGTCACCGATCCGGAGTCCATCGGTATCCAGATCGACGGCGACAAGGCCATCGTCAACAACGAAgg > 2:181514/1‑149 (MQ=255) gATCTGGATGTCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGTGACAGCGCGACGGTGGATAACAAGGGCACCATGACCGTCACCGATCCGGAGTCCATGGGTATCCAGATCGACGGTGACAAGGCCATCGTCAATAACGAAGGCga > 1:657519/1‑149 (MQ=255) aTGTCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGTGACAGCGCGACGGTGGATAACAAGGGCACCATGACCGTCACCGATCCGGAGTCCATGGGTATCCAGATCGACGGTGACAAGGCCATCGTCAATAACGAAGGCGAGAGCAcc < 1:445291/149‑1 (MQ=255) ggcggc‑ggTCACGGTATTGATATCACCGGTGACAGCGAGACGGTGGATAACAAGGGCACCATGACCGTCACCGATCCGGAGTCCATGGGTATCCAGATCGACGGTGACAAGGCCAGCGTCAATAACGAAGGCGAGAGCACCATCACCaa < 1:334911/149‑1 (MQ=255) gcggc‑ggTCACGGTATTGATATCACCGGTAACAGCGCGACGGTGGATAACAAGGACACCATGACCGTCACCGATCCGGAGTCCATGGGTATCCAGATCGACGGTGACAAGGCCATCGTCAATAACGAAGGCGAGAGCACCATCACCAAc < 1:572794/149‑1 (MQ=255) ttGATATCACCGGTGACAGCGCGACGGTGGATAACAAGGGCACCATGACCGTCACCGATCCGGAGTTCATGGGTATCCTGATTGACGGTGACAAGGCCATCGTCAATAACGAAGGCGAGGGTACCATCACCAACGGTggcaccggcacc < 1:260172/149‑1 (MQ=17) ccGGTGACAGCGCGACGGTGGATAACAAGGGCACCATGACCGTCACCGATCCGGAGTCCATGGGTATCCAGATCGACGGTGACAAGGCCATCGTCAATAACGAAGGCGAGAGCACCATCACCAACGGTGGCACCGGCACCCAGATTAAt < 2:214739/149‑1 (MQ=255) gTGACAGCGCGACGGTGGATAACAAGGGCACCATGACCGTCACCGATCCGGAGTCCATGGGTATCCAGATCGACGGTGACAAGGCCATCGTCAATAACGAAGGCGAGAGCACCATCACCAACGGTGGCACCGGCACCCAGATTAATGGt < 1:337207/149‑1 (MQ=255) | GTGATAATGCCACAGTAAACAACAATGGCAAAACCACCGTTGACGGTAAAGATTCCACCGGTACGGAAATCAACGGTAATAACGGGAAAGTGATTCAGGACGGCGATCTGGATGTCAGCGGCGGC‑GGTCACGGTATTGATATCACCGGTGACAGCGCGACGGTGGATAACAAGGGCACCATGACCGTCACCGATCCGGAGTCCATGGGTATCCAGATCGACGGTGACAAGGCCATCGTCAATAACGAAGGCGAGAGCACCATCACCAACGGTGGCACCGGCACCCAGATTAATGGT > NC_000913_3_hsa_pgi/1466053‑1466348 |
| 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: ‑ |