Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 3,844,916 | A→T | 7.8% | C240S (TGC→AGC) ‡ | PP_3394 ← | 3‑hydroxy‑3‑methylglutaryl‑CoA lyase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 3,844,916 | 0 | A | T | 7.8% | 150.0 / 2.1 | 51 | C240S (TGC→AGC) ‡ | PP_3394 | 3‑hydroxy‑3‑methylglutaryl‑CoA lyase |
Reads supporting (aligned to +/- strand): ref base A (22/25); new base T (2/2); total (24/27) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.95e-01 |
GCTCGCCCGGTAGCGCTTCGCTTAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCA‑GGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTG > NC_002947/3844772‑3845057 | gCTCGCCCGGTAGCGCTTCGCTTAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCt > 6:185038/1‑149 (MQ=255) cTCGCCCGGTAGCGCTTCGCTTAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTc < 2:200266/149‑1 (MQ=255) gCCCGGTAGCGCTTCGCTTAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTccc < 5:269866/148‑1 (MQ=255) ccGGTAGCGCTTCGCTTAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAgg < 7:339831/149‑1 (MQ=255) aGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCTGGCGGGCCTGGGAGGct < 6:324093/147‑2 (MQ=255) gTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATc > 5:363950/1‑148 (MQ=255) ggTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCaa < 5:185038/149‑1 (MQ=255) gTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAAt < 4:103264/149‑1 (MQ=255) tttCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGTAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATg < 1:155764/149‑1 (MQ=255) tttCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATg > 8:301742/1‑149 (MQ=255) aTTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCctg > 3:24259/1‑149 (MQ=255) tAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACTGGATGCCTCCCTGGCGGGCCTGGGAGGCTGCCCGTTcgcc < 6:187035/138‑1 (MQ=25) tAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACTGGATGCCTCCCTGGCGGGCCTGGGAGGCTGCCCGTTcgcc < 6:181666/138‑1 (MQ=25) tAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACTGGATGCCTCCCTGGCGGGCCTGGGAGGCTGCCCGTTcgcc > 5:187035/1‑138 (MQ=25) tAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACTGGATGCCTCCCTGGCGGGCCTGGGAGGCTGCCCGTTcgcc > 5:181666/1‑138 (MQ=25) aGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCctgct < 5:233945/148‑1 (MQ=255) gcgcAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCAGTGAACACCAGGTCCTCGGTCACGGAATTACCAGACCCGCCAGGGCCGAACGGGCAGCCTCCCAGCCCCGCCAGGCAg > 1:269367/1‑123 (MQ=255) gcgcAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAg < 2:269367/122‑1 (MQ=255) gcgcAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCtgctgc > 3:347303/1‑149 (MQ=255) cAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCAcc < 4:347303/149‑1 (MQ=255) gCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTccc < 1:57102/129‑1 (MQ=255) gCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTccc > 2:57102/1‑129 (MQ=255) aaGTCGATGCCGGTGTCGTAGCCGAGGCTTGGCAGCA‑TGAACACCAGGTCCTGGGGCACGGTATTACCAGACGCGCCAGGGGCTAACGGGCAGCCTCCGAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGccac < 3:69078/149‑1 (MQ=255) aaGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGccac > 8:41679/1‑149 (MQ=255) ggTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCa < 1:271566/110‑1 (MQ=255) ggTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCa > 2:271566/1‑110 (MQ=255) tgtCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGcc < 6:344460/149‑1 (MQ=255) tCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCaa < 6:363950/149‑1 (MQ=255) cccATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAaggcca‑g > 1:110148/1‑149 (MQ=255) ccATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAaggcca‑gg > 2:167848/1‑149 (MQ=255) cATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGcc < 8:275972/85‑1 (MQ=255) cATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGcc > 7:275972/1‑85 (MQ=255) gCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCA‑GGcccc > 2:361874/1‑149 (MQ=255) tttGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCA‑GGCCCCgg > 4:320579/1‑149 (MQ=255) tttGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACCCGCCAGGGGCGAACGGGCAGCCTCCCAGCCCCGCCAGGGAGGCATCCAGTACCCCAATCCCCTGCTGCACCGCCACCAGGCTGTTGCCCAAGGCCA‑GGCCCCgg > 4:282463/1‑149 (MQ=255) tGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCA‑GGCCCCgg < 3:320579/147‑1 (MQ=255) gca‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCA‑GGCCCCGGGTGTCa < 1:167848/149‑1 (MQ=255) tGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCA‑GGCCCCg > 5:127780/1‑139 (MQ=255) tGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCA‑GGCCCCg < 6:127780/139‑1 (MQ=255) aaCACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCA‑GGCCCCgg < 4:249873/138‑1 (MQ=255) aaCACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCA‑GGCCCCgg > 3:249873/1‑138 (MQ=255) ccTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCA‑GGCCCCGGGTGTCATGGAAGTGCGCGGcc > 6:261638/1‑149 (MQ=255) tCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCA‑GGCCCCGGGTGTCATGGAAGTGCGCGGCCtt > 7:169095/1‑149 (MQ=255) tCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCA‑GGCCCCGGGTGTCATGGAAGTGCGCGGCCtt > 1:59237/1‑149 (MQ=255) ggTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCA‑GGCCCCGGGTGTCATGGAAGTGCGCGGCCTTg < 7:301742/148‑1 (MQ=255) gTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCA‑GGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTc < 7:41679/149‑1 (MQ=255) aGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCA‑GGCCCCGGGTGTCATGGAAGTGCGCGGCCTTga < 2:20847/125‑1 (MQ=255) gggCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCA‑GGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACg > 3:82414/1‑149 (MQ=255) aaCGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCA‑GGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTg < 8:169095/149‑1 (MQ=255) aCGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCATGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGAc < 1:61550/121‑1 (MQ=255) aCGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCA‑GGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGAc > 2:61550/1‑120 (MQ=255) | GCTCGCCCGGTAGCGCTTCGCTTAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCA‑TGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCA‑GGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTG > NC_002947/3844772‑3845057 |
Alignment Legend |
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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: ‑ |