Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 5,241,983 | T→C | 7.2% | E398E (GAA→GAG) | hmgB ← | fumarylacetoacetase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 5,241,983 | 0 | T | C | 7.2% | 156.5 / 2.5 | 55 | E398E (GAA→GAG) | hmgB | fumarylacetoacetase |
Reads supporting (aligned to +/- strand): ref base T (25/26); new base C (2/2); total (27/28) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.94e-01 |
CGAGGTGGAACGGTAATAGGTGTACAGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGCCCGACCCGAACAGGTCACCTGGCTGCAGCTGGCAGCCGT > NC_002947/5241839‑5242131 | cGAGGTGGAACGGTAATAGGTGTAAAGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGa < 8:103840/149‑1 (MQ=255) gAGGTGGAACGGTAATAGGTGTACAGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCACCGTCTTCGAg > 5:189479/1‑149 (MQ=255) gAACGGTAATAGGTGTACAGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAAttt > 3:90407/1‑149 (MQ=255) gAACGGTAATAGGTGTACAGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAAttt < 6:113650/149‑1 (MQ=255) aTAGGTGTACAGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCt > 8:204479/1‑149 (MQ=255) gtgtACAGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTcgcc > 3:255749/1‑149 (MQ=255) cAGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTgg < 7:200135/149‑1 (MQ=255) cAGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTg < 2:50372/148‑1 (MQ=255) cAGATCCTTACCCCTGCCTCCTCAGTTGGCTGCGATGAGCGTGCCGTGGCACTCTCCGATACCGATGCTGGCCACGCCGTCTCGTGTGCAGCGGGCACTCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTg < 5:185828/148‑1 (MQ=255) aGCTCCCTACCCCTGCCTCCTCATTTAGCTGCCATGACCTGGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGTATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑c < 6:224295/149‑1 (MQ=255) aGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTgc < 6:164460/133‑1 (MQ=255) aGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTgc > 5:164460/1‑133 (MQ=255) cATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAg < 8:208685/147‑1 (MQ=255) cTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCgg > 8:183804/1‑149 (MQ=255) cctcctCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCa < 6:154243/148‑1 (MQ=255) tcctcAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTCGCCACGCCGTCACCTGTGCAGCGGGCACGCAGGATGATTTCGTCTCCCTCTTCGAGGATATTGCGCACATCGCCGCTGG‑CCAGCACGACCGGccggt > 7:179348/1‑145 (MQ=255) cctcAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTg < 8:93989/129‑1 (MQ=255) cctcAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTg > 7:93989/1‑129 (MQ=255) ctcAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTg > 2:196506/1‑149 (MQ=255) ggCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCtt > 8:248483/1‑149 (MQ=255) gCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGt > 2:207704/1‑149 (MQ=255) cGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCATGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCCAGCTCGACCGGCAGTTTGCCGCCTTCGGt < 1:196691/149‑1 (MQ=255) cGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCgg < 7:204479/147‑1 (MQ=255) cGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTg < 7:248483/149‑1 (MQ=255) cGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCACCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTg < 6:189479/149‑1 (MQ=255) gATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGa > 5:26733/1‑149 (MQ=255) ccGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCCTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGAcc < 2:297498/117‑1 (MQ=255) ccGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCCTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGAcc < 2:252816/117‑1 (MQ=255) ccGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCCTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGAcc > 1:297498/1‑117 (MQ=255) ccGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCCTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGAcc > 1:252816/1‑117 (MQ=255) cgcgGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAgg < 7:183804/149‑1 (MQ=255) cgGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCgg > 8:103424/1‑116 (MQ=255) cgGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCgg < 7:103424/116‑1 (MQ=255) aCCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCCCGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGCCCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTCCCGAAc > 6:48884/1‑148 (MQ=255) gAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCtt > 6:237612/1‑119 (MQ=255) gAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCtt < 5:237612/119‑1 (MQ=255) aCCGATGCTGGCCACGCCATCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCg > 2:259956/1‑149 (MQ=255) gATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCg < 1:196506/149‑1 (MQ=255) gCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGAGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGcc > 2:163700/1‑149 (MQ=255) ccGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAg < 1:207704/149‑1 (MQ=255) cAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGcccgaccc < 6:26733/149‑1 (MQ=255) cACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGCCCGACCCGAACAgg > 2:138227/1‑149 (MQ=255) aCGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGcccgaccc > 7:245217/1‑141 (MQ=255) aCGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGcccgaccc < 8:245217/141‑1 (MQ=255) aCGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGCCCGACCCGAACAGGt < 1:138227/149‑1 (MQ=255) aCGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGCCCGACCCGAACAGGt < 4:255749/149‑1 (MQ=255) gCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGCCCGACCCGAACAGGTCa > 7:259120/1‑149 (MQ=255) gatgatTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGc > 1:26103/1‑124 (MQ=255) gatgatTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGc < 2:26103/124‑1 (MQ=255) tgatTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCg < 6:313989/105‑1 (MQ=255) tgatTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCg > 5:313989/1‑105 (MQ=255) tcgtcgCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGCCCGACCCGAACAGGTCACCTGGATGCAg > 6:205334/1‑149 (MQ=255) cGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGCCCGACCCGAACAGGTCACCTGGCTGCAGCTGGCAg > 2:214979/1‑149 (MQ=255) cGTCTACGAGGAATTAGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCTGTTTTCCGAGTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCCTGGCGCACGACAGCGTGCCCGACGCGAACAGGTCACCTGGCTGCAGCTGGCAg < 2:264335/149‑1 (MQ=255) gTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGCCCGACCCGAACAGGTCACCTGGCTGCAGCTGGCAGc > 8:221641/1‑149 (MQ=255) ttCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGCCCGACCCGAACAGGTCACCTGGCTGCAGCTGGCAGCCGt > 8:109426/1‑149 (MQ=255) | CGAGGTGGAACGGTAATAGGTGTACAGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGG‑CCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGCCCGACCCGAACAGGTCACCTGGCTGCAGCTGGCAGCCGT > NC_002947/5241839‑5242131 |
Alignment Legend |
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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: ‑ |