Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 4,111,481 | G→T | intergenic (+796/+116) | cdh → / ← yiiQ | CDP‑diacylglycerol phosphotidylhydrolase/DUF1454 family putative periplasmic protein |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_tpiA | 4,111,481 | 0 | G | T | 97.7% | 133.5 / NA | 43 | intergenic (+796/+116) | cdh/yiiQ | CDP‑diacylglycerol phosphotidylhydrolase/DUF1454 family putative periplasmic protein |
Reads supporting (aligned to +/- strand): ref base G (0/1); new base T (22/20); total (22/21) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 4.88e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
GAAGTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAG > NC_000913_3_hsa_tpiA/4111337‑4111625 | gAAGTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGgcg < 2:691433/149‑1 (MQ=255) gTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCa < 2:888123/149‑1 (MQ=255) gTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCa > 2:415665/1‑149 (MQ=255) tCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGGCTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGCACAACTTCCTGGATGTCGCCAt > 1:305585/1‑149 (MQ=255) taGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGATTCCCCCAACGAAGAACTTCCTGGCTGGCGCCATTTTAAt > 2:941813/1‑149 (MQ=255) gCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATt‑ct > 2:937415/1‑149 (MQ=255) aGTAGGGGTAGCACAAACCCCCTCGTTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTcc < 2:177960/149‑1 (MQ=255) gggggAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTTCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGc < 1:980045/149‑1 (MQ=255) gAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGCGCTCCCCCAGGCTCTGCTTCCGCCCGTTCATCTTCCGGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTtat < 1:941813/149‑1 (MQ=255) gAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTtat < 1:141927/149‑1 (MQ=255) gCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAACTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCGCCCAAAGAGGAACTTCGTGGATGGGGCGTGTTTAATTGCTCCA‑GGTTATaa > 1:216821/1‑149 (MQ=255) ttcaccGCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCgtgg < 2:303584/147‑4 (MQ=255) caccTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑ATCCCCGCTTATAAGCGATTaa > 2:800553/1‑149 (MQ=255) cTCGGTGTCGGCCGGCCCCTTGGCCACGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTGCCTGGATCGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAgg > 1:789646/1‑149 (MQ=255) tCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGa < 1:963408/149‑1 (MQ=255) ggTGGCGGGCGGCACCTGGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAg < 2:386621/149‑1 (MQ=255) ccggcACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGgccgc > 1:682761/1‑149 (MQ=255) gcACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGcccc > 1:476046/1‑149 (MQ=255) cTTGGCCCCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAg < 1:784442/149‑1 (MQ=255) ttGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAgg > 1:966102/1‑149 (MQ=255) tccAGAGTGCCGATGAGCTCCCCCACACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTAGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATCAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGt < 1:562233/147‑1 (MQ=255) cAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCt < 1:957065/149‑1 (MQ=255) aggAGCTCCCCCAGCCTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGt < 1:295442/147‑1 (MQ=255) tgcgCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGta < 1:797642/146‑1 (MQ=255) tGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGta < 2:614773/149‑1 (MQ=255) gCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCGGCCCCGCAGGGCAGCAGGTCTGTGAACCCGTATag > 2:890516/1‑149 (MQ=255) ccccAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCACACATCTGTAAGCTGCCTGGATGGAGCTTTTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGACGCCCCGCAGGGCAGCAGGTCTGTGAGACAGTATAGAGAt > 1:1023022/1‑149 (MQ=255) gACTCGGCTTCCGCCCGTTCATCTTCCAGCTTCCCCCACCGAAGAACTTACTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATc < 2:204597/149‑1 (MQ=255) cccGTTAATCTGCCAGGTTGCCCCAACGAAGAACATCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCCGCAGGTCTGTGAAACAGTATAGAAATTCATCAGCACAAAGgctt > 2:802596/1‑149 (MQ=255) gTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGGGAAGCGGTATAGAGATTCATCGGCACAAAGgctttgc > 1:192746/1‑149 (MQ=255) ttCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgctttgct > 1:693231/1‑149 (MQ=255) ccgtCCAGTGTCCCCCAACGAAGAAGTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCttttt < 2:397996/146‑1 (MQ=255) ttCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGt > 2:231327/1‑149 (MQ=255) ttCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGt > 1:399500/1‑149 (MQ=255) tCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTc < 1:71689/149‑1 (MQ=255) cccccAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTc < 1:800553/149‑1 (MQ=255) ccccAACGAAGAACTTCGTGGATGGCGCCATATTGATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAAAAGTATAGACAGTCATCGGCACAAAGGCTTTGCTGTTGGTCACTTATTCa > 1:617862/1‑149 (MQ=255) ccccAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCa > 2:705783/1‑149 (MQ=255) cAACGAAGAACTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAAc > 2:895909/1‑149 (MQ=255) gaaCTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCaaa > 1:3075/1‑141 (MQ=255) gaaCTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCaaa < 2:3075/141‑1 (MQ=255) aaCTTCCTGGATGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCGTGGCTTTTTGTGCTTTATTCAAACATTCAAGc > 1:355535/1‑149 (MQ=255) tggatggaGCCATTTTAACT‑CTCTACGCTTATAAGCGAATAAAGGAAGATGGCCGACCCGCAGGGCAGCAGGTCTGTGCAACAGTATAGAGATTCAACGGCACAAAGGCTTGGCTTTTTGTCATGTATTCAGACCTTCAAGCGATTCAg > 1:957326/1‑149 (MQ=255) tGGAGTGTGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAATATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAg < 2:885338/149‑1 (MQ=255) | GAAGTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATT‑CTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAG > NC_000913_3_hsa_tpiA/4111337‑4111625 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |