Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 4,111,482 | G→T | intergenic (+797/+115) | 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 | 4,111,482 | 0 | G | T | 95.7% | 143.4 / ‑1.7 | 47 | intergenic (+797/+115) | cdh/yiiQ | CDP‑diacylglycerol phosphotidylhydrolase/DUF1454 family putative periplasmic protein |
Reads supporting (aligned to +/- strand): ref base G (1/1); new base T (28/17); total (29/18) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.28e-01 |
GTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGA > NC_000913_3_hsa_tpiA/4111340‑4111626 | gTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGACCTTCCTGGAGTGCGccct > 1:204914/1‑148 (MQ=255) gATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGACCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCAtttt > 1:272315/1‑150 (MQ=255) tataGGCAGTAGGGGGCGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCTAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTaa < 1:388922/150‑1 (MQ=255) tataGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCCTTTTaa > 1:179796/1‑150 (MQ=255) tataGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTaa < 1:225328/150‑1 (MQ=255) ggAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATTGCCCCGTTTTAATTATCCCTGCTtat > 2:236352/1‑150 (MQ=255) gAGCACGAACCACCGCGGTGTCGGCCGGCACCTTGGCCCCGTTCAGAGTGTCGATGCGCTCCCCCAGGCTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACGTCCTGGAGTGCGCCATTTTAATTCTCCACGCTtata < 2:378323/150‑1 (MQ=255) cacaAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGc < 1:42742/150‑1 (MQ=255) caAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTTCGCCATTTTAATTCTCCACGCTTATAAGCGa > 1:586890/1‑150 (MQ=255) caccTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTACTTCTCCACGCTTATTAGCGAATaaa > 1:39373/1‑150 (MQ=255) accTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAg > 2:28698/1‑150 (MQ=255) ccTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAgg > 1:626470/1‑150 (MQ=255) cTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGa < 1:186077/150‑1 (MQ=255) ggTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGa > 2:593603/1‑150 (MQ=255) gcACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGCATAAAGGAAGATGGCCGCCCCg > 1:258380/1‑150 (MQ=255) ccTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGaa < 1:357425/126‑1 (MQ=255) ccTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGaa > 2:357425/1‑126 (MQ=255) cTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTACATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAgg > 1:455007/1‑150 (MQ=255) gcgTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGcagcag < 1:593603/150‑1 (MQ=255) cAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCtg < 1:539562/150‑1 (MQ=255) agagTGCCGATGCGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCCGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTCATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCtgt < 1:23172/150‑1 (MQ=255) gagTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCtgtg < 2:455007/150‑1 (MQ=255) cGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAg > 2:480830/1‑150 (MQ=255) cTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATaga < 1:434645/149‑1 (MQ=255) cTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATaga > 2:434645/1‑149 (MQ=255) ccAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTCTCGAGATTCa > 1:383564/1‑150 (MQ=255) ccAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCa < 1:28698/150‑1 (MQ=255) ccAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCACCAGCTCTGTGCAACAGTATaaaggtccc > 2:218235/1‑145 (MQ=255) cAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCAt < 2:423378/150‑1 (MQ=255) aGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATc < 1:335038/150‑1 (MQ=255) tctGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGca < 1:460441/150‑1 (MQ=255) gCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATACGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgctt > 1:26677/1‑150 (MQ=255) gCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgctt > 2:572439/1‑150 (MQ=255) gCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTACACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgctt > 1:580189/1‑150 (MQ=255) ccccGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgctt < 1:202953/149‑1 (MQ=255) cGTTCATCTTCCAGCATCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgatttgc > 2:254824/1‑150 (MQ=255) gTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgctttgct > 1:260551/1‑150 (MQ=255) ttCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATAGGCACAAAGgctttgctt > 2:444051/1‑150 (MQ=255) tCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCttttt > 2:272808/1‑146 (MQ=255) tCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCttttt < 1:272808/146‑1 (MQ=255) cccAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCaaa > 1:454365/1‑150 (MQ=255) cccAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCaaa > 1:624363/1‑150 (MQ=255) cccAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCaaa > 2:640436/1‑150 (MQ=255) cAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAAcc > 1:636145/1‑150 (MQ=255) gaaCTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGc > 1:20608/1‑150 (MQ=255) cTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAg > 1:612285/1‑150 (MQ=255) tGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTCTTCAAACCTTCAAGCGATTCAGa < 2:580189/150‑1 (MQ=255) | GTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGA > NC_000913_3_hsa_tpiA/4111340‑4111626 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |