| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_002947 | 2,694,980 | A→T | 14.3% | Q424L (CAG→CTG) | PP_2362 → | usher protein |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_002947 | 2,694,980 | 0 | A | T | 14.3% | 77.8 / 6.8 | 35 | Q424L (CAG→CTG) | PP_2362 | usher protein |
| Reads supporting (aligned to +/- strand): ref base A (13/17); new base T (3/2); total (16/19) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 6.42e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.59e-01 | |||||||||||
AGTGACATGTTCACCCTGGAAACCCACGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGAGCAAAAGCAGCGAACAGGTCA > NC_002947/2694835‑2695117 | aGTGACATGTTCACCCTGGAAACCCACGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCGACCTGGt > 3:11699/1‑149 (MQ=255) aCCCTGGAAACCCACGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCGACCTGGTGGCCCTTgtcgc < 4:11699/149‑5 (MQ=255) aCCCTGGAAACCCACGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTa > 6:134956/1‑149 (MQ=255) aCCCTGGAAACCCACGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCCCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTa > 3:56806/1‑149 (MQ=255) ccTGGAAACCCACGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTg > 6:121542/1‑143 (MQ=255) ccTGGAAACCCACGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTg < 5:121542/143‑1 (MQ=255) cccACGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTg < 4:128345/135‑1 (MQ=255) atctcGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATacaac < 7:141850/145‑1 (MQ=255) cgaatctaaCGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAAcagc < 7:31520/142‑1 (MQ=255) gCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATacaac > 8:141850/1‑144 (MQ=255) aaCGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGccacca > 4:147008/1‑114 (MQ=255) aaCGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGccacca < 3:147008/114‑1 (MQ=255) aCGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAAccgc > 8:31520/1‑141 (MQ=255) cTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTa > 6:30290/1‑149 (MQ=255) tGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTAc > 1:174769/1‑116 (MQ=255) tGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTAc < 2:174769/116‑1 (MQ=255) aTGCTGGGTGGGCTTGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTAc < 4:56806/147‑1 (MQ=255) tgggctgggcGGCAACATGCGCGTGGGCAACTTAGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGc < 5:134956/149‑1 (MQ=255) ggcggcAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGc < 7:253363/147‑1 (MQ=255) ggcggcAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCa > 2:216861/1‑149 (MQ=255) ggcAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGTGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGATTCGGTTACCGACGCCTGCAACGCCATgg < 7:228667/149‑1 (MQ=255) cgcgTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGc < 5:226770/149‑1 (MQ=255) cGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCgg < 4:90546/148‑1 (MQ=255) gTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATgg < 7:685/122‑1 (MQ=255) gTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATgg > 8:685/1‑122 (MQ=255) aaCGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGggtg > 5:167730/1‑141 (MQ=255) aaCGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGggtg < 6:167730/141‑1 (MQ=255) aaCGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTcc < 1:216861/147‑1 (MQ=255) ttCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGAGCAAAagcag > 3:258087/1‑149 (MQ=255) ggCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGAtt > 6:171579/1‑91 (MQ=255) ggCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGAtt < 5:171579/91‑1 (MQ=255) cAAGGGCGACCTGGTGGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGa > 6:14812/1‑128 (MQ=255) cAAGGGCGACCTGGTGGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGa < 5:14812/128‑1 (MQ=255) cAAGGGCGACCTGGTGGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCACGGACATGCAACTGAGCAAAAGCAGCGAACACGTCa > 2:219317/1‑149 (MQ=255) cAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGAc > 6:155361/1‑118 (MQ=255) cAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGAc < 5:155361/118‑1 (MQ=255) gggCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGAGCaaa < 8:30512/130‑1 (MQ=255) | AGTGACATGTTCACCCTGGAAACCCACGCCGAAACGGCGGAGTCGCTGATGCTGGGTGGGCTGGGCGGCAACATGCGCGTGGGCAACTTCGGCGTGCTCAACGCTGCCTTGGCGCAAAGCCGGTTCGAGGGCGACAAGGGCCACCAGGTCGCCCTTGGCTACCAATACAACAGCCAGCGCATCGGCTTCGGTTACCAACGCCTGCAACGCCATGGCGATTATGCCGACCTGAGCCGGGTGGTCTCCCCGGACATGCAACTGAGCAAAAGCAGCGAACAGGTCA > NC_002947/2694835‑2695117 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 21 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |