Predicted mutation | ||||||
---|---|---|---|---|---|---|
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... | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_tpiA | 4,111,481 | 0 | G | T | 97.8% | 136.2 / NA | 45 | 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 (11/33); total (11/34) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.99e-01 |
CGAAGTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTC > NC_000913_3_hsa_tpiA/4111336‑4111614 | cGAAGTCGATATAGGTAGTAGGTGGAGCACAGACCTCCTCGGTGTCGGCCGTCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGgc < 1:402732/149‑1 (MQ=255) atatAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCAtttt < 2:19889/149‑1 (MQ=255) tataGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTa < 1:862773/149‑1 (MQ=255) ataGGCAGGAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTaa < 1:62730/149‑1 (MQ=255) gTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTGCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCa < 2:79820/149‑1 (MQ=255) ggAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTta < 1:681815/149‑1 (MQ=255) aGCACAAACCACCTCTTTGCCGGCCGGCACTTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTtata < 1:832420/149‑1 (MQ=255) cacaAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATtct > 1:138483/1‑136 (MQ=255) cacaAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATtct < 2:138483/136‑1 (MQ=255) cacaAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAg < 1:697235/149‑1 (MQ=255) aaaCCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGa > 1:115583/1‑149 (MQ=255) tcTCGGTGTCGGCCAGCACCTTGGCCGCGTTCAGAGTGCCGATGATCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAg < 2:381222/148‑1 (MQ=255) cTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAgg < 2:263537/149‑1 (MQ=255) tgtCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCCGTTTCCCCTAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGAt < 1:672806/149‑1 (MQ=255) tggcggccggcACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGAt < 1:242290/146‑1 (MQ=255) gtCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATg < 2:613362/149‑1 (MQ=255) ggccggcACCTGGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGGCGCTGCTTCCGCCCGTTCATCTTCCAGGTTCCCCCAACGAAGAACGTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGgcc < 1:38448/149‑1 (MQ=255) cTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAg < 2:204412/149‑1 (MQ=255) ttGGCTGAGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAgg < 2:829587/149‑1 (MQ=255) ttGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAgg < 2:854205/149‑1 (MQ=255) tgggCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAgg < 2:277050/147‑1 (MQ=255) ccGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGgcag > 2:498710/1‑149 (MQ=255) gTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCACCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAgg < 2:390121/149‑1 (MQ=255) cAGAGTGCCGCTGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCt < 1:463916/149‑1 (MQ=255) cAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCt < 2:698817/149‑1 (MQ=255) gagTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCtgt < 2:496970/149‑1 (MQ=255) tGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCACTTTCCCCCAACGAAGAACTGCCTGGATGGCGCCATTTGAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCTCCCCGCAGGGCAGCAGGTCTGTGaa > 1:785112/1‑149 (MQ=255) gacGATGAGCTCCCCGAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAAGTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGaaa < 2:91177/147‑1 (MQ=255) aTGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGt > 1:713647/1‑149 (MQ=255) tCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCCGGGCAGCAGGTCTGTGAAAAAGTATagag > 1:485984/1‑149 (MQ=255) ccccccAGCCGCTGCTTACGGCCGTTCATCTTCCAGTTCACCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATGCTCCACGCTTATTAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATagcg < 2:18926/148‑3 (MQ=255) tctGCTTCCGCCCGTTCATCTTCCAGCTTCCCCCAACGAAGAACTTCCTGGATGTCGCCATTTTAATTCTCCCCGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCACAGGGCAGCAGGTCTGTGAACACGAATAGAGCTTCATCgcc > 2:407462/1‑147 (MQ=255) gCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgct > 1:659911/1‑149 (MQ=255) ccGTTCATCTTCCCGTTTCCCCCAACGAAGAACTTCCTGGATTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGAGTCATCGGCACAAACgcttt < 2:734248/149‑1 (MQ=255) ccGGTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgcttt < 2:64364/149‑1 (MQ=255) cGTACATCTTCCAGTTTCCCCCAACGAAGAACTCCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgctttg < 1:407436/149‑1 (MQ=255) cATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgctttgcttt > 1:529296/1‑149 (MQ=255) tCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCttttt < 2:745037/149‑1 (MQ=255) tCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCttttt < 2:745400/149‑1 (MQ=255) ccccAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCa > 1:516536/1‑149 (MQ=255) cAACGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAAc < 1:441732/149‑1 (MQ=255) aCGAAGAACTGCCTGGAGGGCCGCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAAGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCt < 2:197962/149‑1 (MQ=255) cGAAGAACTTCCTGGATGGCGCCATTTTAATTCTCCCCGCTAATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTTAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCtt < 1:380659/149‑1 (MQ=255) cGAAGAACTTCCTGGATGGCGCCATTTTAATTCTACACGCTTATGTTCTAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCtt < 1:381260/149‑1 (MQ=255) gaagaaCTTCCTGGATGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCCTTGCTTTTTGTCATTTATTCAAACCTTc > 2:276035/1‑149 (MQ=255) | CGAAGTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTC > NC_000913_3_hsa_tpiA/4111336‑4111614 |
Alignment Legend |
---|
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: ‑ |