Predicted mutation | |||||||
---|---|---|---|---|---|---|---|
evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 3,844,933 | A→T | 7.8% | L234Q (CTG→CAG) | PP_3394 ← | 3‑hydroxy‑3‑methylglutaryl‑CoA lyase |
Read alignment evidence... | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 3,844,933 | 0 | A | T | 7.8% | 148.2 / 2.3 | 51 | L234Q (CTG→CAG) | PP_3394 | 3‑hydroxy‑3‑methylglutaryl‑CoA lyase |
Reads supporting (aligned to +/- strand): ref base A (24/23); new base T (2/2); total (26/25) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.87e-01 |
CGCTTAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCATTGCCACCTGGCCC > NC_002947/3844790‑3845079 | cgcttAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGa < 5:95264/148‑1 (MQ=255) ttAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCa > 4:183795/1‑149 (MQ=255) tGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTc > 6:120547/1‑149 (MQ=255) tGCCGGGTTTCGATTAGCGCAGGCAAGGCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTc > 1:12813/1‑149 (MQ=255) ccGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTccc < 4:24398/149‑1 (MQ=255) ccGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTccc > 6:264052/1‑149 (MQ=255) ccGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTcc < 6:141775/148‑1 (MQ=255) tCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGcc > 5:200658/1‑149 (MQ=255) aaGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATcc > 1:17724/1‑120 (MQ=255) aaGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATcc < 2:17724/120‑1 (MQ=255) aaGTAGATGACGGCGTCGTAGCCCATGCTATGCAGCATGATCACCAGGTCCTCGTTCACGGTATTCCCAGACGCGCCAGGGGCGAACGCGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGccac < 4:206343/149‑1 (MQ=255) gATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAgg < 1:239499/148‑1 (MQ=255) gATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGc < 2:12813/149‑1 (MQ=255) ccGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGtt < 8:26872/149‑1 (MQ=255) tCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGcc > 2:89138/1‑147 (MQ=255) tCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGcc > 3:244544/1‑147 (MQ=255) gTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAagg > 5:66410/1‑149 (MQ=255) tAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAaggc > 4:120901/1‑149 (MQ=255) cccATGCTTTGCAGCATGAACACCAGGTCCTCGGTCCCGGTATTACCAGCCGCGCCAGGGGCGAACGGGCCGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCCCCGCCACCAGGCTGTTGGCCAcggccag > 6:27164/1‑149 (MQ=255) cccATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAaggccag < 5:120547/149‑1 (MQ=255) tGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCgg < 4:244544/147‑1 (MQ=255) agcaTGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCCCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTc < 5:264052/149‑1 (MQ=255) gcaTGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCa > 4:269104/1‑149 (MQ=255) caTGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCAt < 7:237810/149‑1 (MQ=255) ccAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTgc > 2:131068/1‑149 (MQ=255) cAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTgcg > 6:204468/1‑149 (MQ=255) cAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTgcg > 2:91435/1‑149 (MQ=255) ccTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGcc > 7:137027/1‑149 (MQ=255) ggTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCtt < 6:200658/147‑1 (MQ=255) ggTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTga < 6:66410/149‑1 (MQ=255) ggTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTga < 3:269104/149‑1 (MQ=255) gTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCtt > 5:311539/1‑146 (MQ=255) tCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTgaga < 8:137027/149‑1 (MQ=255) aCGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACg < 3:124248/149‑1 (MQ=255) gTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTc > 2:238167/1‑149 (MQ=255) tACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCt > 2:284773/1‑149 (MQ=255) gcCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTccc < 3:183795/149‑1 (MQ=255) gggCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCt > 5:200237/1‑134 (MQ=255) gggCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCt < 6:200237/134‑1 (MQ=255) ccTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCGCCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCAt > 3:233233/1‑149 (MQ=255) ccTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCAt < 6:311539/149‑1 (MQ=255) cTCCCTGGCGGGCCTGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGc > 3:215853/1‑143 (MQ=255) cTCCCTGGCGGGCCTGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGc < 4:215853/143‑1 (MQ=255) tCCCTGGCGGGCCTGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCATTg > 1:298760/1‑149 (MQ=255) ccAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCAtt > 7:259068/1‑146 (MQ=255) ccAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCAtt < 8:259068/146‑1 (MQ=255) ctggcgggCCTGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCATTGCCa < 8:96860/142‑1 (MQ=255) gCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCATTGCCACCt > 6:22561/1‑149 (MQ=255) gCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCAtt < 1:37717/138‑1 (MQ=255) gCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCAtt > 2:37717/1‑138 (MQ=255) ccAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCATTGCCACCTGGccc < 1:284773/149‑1 (MQ=255) | CGCTTAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCATTGCCACCTGGCCC > NC_002947/3844790‑3845079 |
Alignment Legend |
---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |