| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 1,717,300 | A→G | 14.1% | intergenic (‑78/+51) | tyrS ← / ← pdxH | tyrosyl‑tRNA synthetase/pyridoxine 5'‑phosphate oxidase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 1,717,300 | 0 | A | G | 14.1% | 77.5 / 4.2 | 38 | intergenic (‑78/+51) | tyrS/pdxH | tyrosyl‑tRNA synthetase/pyridoxine 5'‑phosphate oxidase |
| Reads supporting (aligned to +/- strand): ref base A (16/16); new base G (4/2); total (20/18) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 6.63e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.96e-01 | |||||||||||
CTCGTCCGTCACCTGGGCTACCAGCCCCCGCTCTTGCAATTGTTTAATCAAGTTACTGCTTGCCATCAAAATCTCCATGTATATAACGACTGCACCTTTGCCGGTACACGACTTTTCGCCAGATGCGAAAGAGACATAGAATAAAGTGCCAG‑AATCAGGAGTACCAGCGATTAAAGCAAGATTTTTGCATCTTTTCAGGGTGCAAGACGATCAATCTTCCACGCATCATTTTCACGCTGGTACAAAAAGCGGTCATGCAGGCGATGCTCACCACCCTGCCAGAACTCA > NC_000913_3_hsa_tpiA/1717157‑1717444 | cTCGTCCGTCACCTGGGCTACCAGCCCCCGCTCTTGCAATTGTTTAATCAAGTTACTGCTTGCCATCAAAATCTCCATGTATATAACGACTGCACCTTTGCCGGTACACGACTTTTCGCCAGATGCGAAAGAGACATAGAATAAAGTGc < 2:396732/149‑1 (MQ=255)cTCGTCCGTCACCTGGGCTACCAGCCCCCGCTCTTGCAATTGTTTAATCAAGTTACTGCTTGCCATCAAAATCTCCATGTATATAACGACTGCACCTTTGCCGGTACACGACTTTTCGCCAGATGCGAAAGAGACATAGAATAAAGTGc < 1:231147/149‑1 (MQ=255) ccgccgccACCGCGGCGAGCAGCCCCCGCTCTTGCAATTGTTTAATCACGTTACTGCGTGCCATCAAAATCTCCATGTATATAACGAGTGCACCTTTGCCGGGACACGACTTTGCGCCAGATGCGAAAGAGACATAGAATAAAGTGCCa < 2:14715/146‑1 (MQ=255) cgtcACCTGGGCTACCAGCCCCCGCTCTTGCAATTGTTTAATCAAGTTACTGCTTGCCATCAAAATCTCCATGTATATAACGACTGCACCTTTGCCGGTACACGACTTTTCGCCAGATGCGAAAGAGACATAGAATAAAGTGCCAG‑AAt < 1:602619/149‑1 (MQ=255) gtcACCTGGGCTACCAGCCCCCGCTCTTGCAATTGTTTAATCAAGTTACTGCTTGCCATCAAAATCTCCATGTATATAACGACTGCACCTTTGCCGGTACACGACTTTTCGCCAGATGCGAAAGAGACATAGAATAAAGTGCCAG‑AGTc > 1:208283/1‑149 (MQ=255) aCCTGGGCTACCAGCCCCCGCTCTTGCAATTGTTTAATCAAGTTACTGCTTGCCATCAAAATCTCCATGTATATAACGACTGCACCTTTGCCGGTACACGACTTTTCGCCAGATGCGAAAGAGACATAGAATAAAGTGCCAG‑AATCAgg > 1:45344/1‑149 (MQ=255) ccTGGGCTACCCGCCCCCGCTCTGGCAATTGTTTCATTAAGTTACTGCTTGCCATCAAAATCTCCTTGTATATAACGACTGCACCTTTGCCGGTACACGACTTTTCGCCAGATGCGAAAGAGACATAGAATAAAGTGCCAG‑AATCAGGa < 2:578541/149‑1 (MQ=255) tGGGCTACCAGCCCCCGCTCTTGCAATTGTTTAATCAAGTTACTGATTGCGATGAAAATCTCCATGTATATAACGACTGCACCTTTGCCGGTACACGACTTTTCGCCAGATGCGAAAGAGACATAGAATAAAGTGCCAG‑AATCAGGAGt > 1:371529/1‑149 (MQ=255) tACCAGCCCCCGCTCTTGCAATTGTTTAATCAAGTTACTGCTTGCCATCAAAATCTCCATGTATATAACGACTGCACCTTTGCCGGTACACGACTTTTCGCCAGATGCGAAAGAGACATAGAATAAAGTGCAAG‑AAACAGGAGTACAAg > 1:50296/1‑149 (MQ=255) cAGCCCCCGCTCTTGCAATTGTTTAATCAAGTTACTGCTTGCCATCAAAATCTCCATGTATATAACGACTGCACCTTTGCCGGTACACGACTTTTCGCCAGATGCGAAAGAGACATAGAATAAAGTGCCAG‑AATCAGGAGTACCAGCGa < 2:504290/149‑1 (MQ=255) cctgCTCTTGCAATTGTTTAATCAATTTACTGCTTGCCATCAAAATCTCCATGTATATAACGACTGCACCTTTGCCGGTACACGACTTTTCGCCAGATGCGAAAGAGACATAGAATAAAGTGCCAG‑AATCAGGAGTACCAGCGATTaaa < 1:44616/146‑1 (MQ=255) ttGCAATTGTTTAATCAAGTTACTGCTTGCCATCAAAATCTCCATGTATATAACGACTGCACCTTTGCCGGTACACGACTTTTCGACAGATGCTAAAGAGACATAGAATAAAGTGCCAG‑AATCAGGAGTACCAGCCATTAAAGCAAGAt > 1:618661/1‑149 (MQ=255) aaTTGTTTAATCAAGTTACTGCTTGCCATCAACATATCAGTGTATATAACGACTGCACCTTCGCAGTTACACTGGTTTTCGCCAGATGCGAACGAGAGGTA‑AAGAGAGTTACGGCAATCAGGAGTACCGACGATTAAAGCAAGAttttt > 2:347862/1‑149 (MQ=255) ttGTTTAATCAAGTTACTGCTTGCCATCAAAATCTCCATGTATATAACGACTGCACCTTTGCCGGTACACGACTTTTCGCCAGATGCGAAAGAGACATAGAATAAAGTGCCAG‑AATCAGGAGTACCAGCGATTAAAGCAAGATTTTTGc > 1:295580/1‑149 (MQ=255) gcatttACTGCTTGCCATCAAATTCTCGATGTATATAACGACTGCACCTTGGCCGGTACACGACGTTTCGCCAGATGCGAAAGAGACATAGAAGAAAGTGCCAG‑AATCAGGAGTACCAGCGATTAAAGCAAGATTTTTGCATCTTTTCa < 2:62982/145‑1 (MQ=255) aGTTACTGCTTGCCATCAAAACCTCCATGTATATAACGACTGCACCTTTGCCGGTACACGACTTTTCGCCAGATGCGAAAGAGACATAGAATAAAGTGCCAG‑AATCAGGAGTACCAGCGATTAAAGCAAGATTTTTGCATCTTTTCAgg < 1:532080/149‑1 (MQ=255) ccATCAAAATCTCCATGTATATAACGACTGCACCTTTGCCGGTACAAGAATTTTCGACAGATGCGGAAGAGACATAGAATAAAGTGTCAG‑AATCAGGAGTACAAGCGATTAAAGGAAGATTTTTGCATCTTTTCAGGGTGGAAGAGGAt > 1:354811/1‑149 (MQ=255) tCAAAATCTCCATGTATATAACGACTGCACCTTTGCCGGTACACGACTTTTCGCCAGATGCGAAAGAGACATAGAATAAAGTGCCAG‑AATCAGGAGTACCAGCGATTAAAGCAAGATTTTTGCATCTTTTCAGAGTGCAAGACGATCaa > 2:261508/1‑149 (MQ=255) tCAAAATCTCCATGTATATAACGACTGCACCTTTGCCGGTACACGACTTTTCGCCAGATGCGAAAGAGACATAGAATAAAGTGCCAG‑AATCAGGAGTACCAGCGATTAAAACAAGATTTTTGCATCTTTTCAGGGTGCAAGACGATCaa > 1:242850/1‑149 (MQ=255) aTCTTCATGTATATAACGACTGCACCTGTGCCGGTACACGACTTTTCGCCAGATGCGAAAGAGACATAGAATAAAGTGCCAG‑AATCAGGAGTACCAGCGATTAAAGCAAGATTTTTGCATCTTTTCAGGGTGCAAGACGATCAATCTTc < 1:339321/149‑1 (MQ=255) aaCGACTGCACCTTTGCCGGTACACGACTTTTCGCCAGATGCGAAAGAGACATAGAATAAAGTGCCAG‑AATCAGGAGTACCAGCGATTAAAGCAAGATTTTTGCATCTTTTCAGGGTGCAAGACGATCAATCTTCCACGCCTCATTTTc > 1:165265/1‑149 (MQ=255) aaCGACTGCACCTTTGCCGGTACACGACTTTTCGCCAGATGCGAAAGAGACATAGAATAAAGTGCCAG‑AATCAGGAGTACCAGCGATTAAAGCAAGATTTTTGCATCTTTTCAGGGTGCAAGACGATCAATCTTCCACGCATCATTTTc > 1:165332/1‑149 (MQ=255) aCGACTGCACCTTTGCCGGTACACGACTTTTCGCCAGATGCGAAAGAGACATAGAATAAAGTGCCAG‑AATCAGGAGTACCAGCGATTAAAGCAAGATTTTTGCATCTTTTCAGGGTGCAAGGCGATCAATCTTCCACGCATCATTTTCa > 1:671430/1‑149 (MQ=255) gCACCTTTGCCGGTACACGACTTTTCGCCAGATGCGAAAGAGACATAGAATAAAGTGCCAG‑AATCAGGAGTACCAGCGATTAAAGCAAGATTTTTGCATCTTTTCAGGGTGCAAGACGATCAATCTTCCACGCATCATTTTCACGCTgg < 2:45344/149‑1 (MQ=255) ggTACACGTCTTTTCGCTAGTTGCGAAAGAGACATACACTCGTGCGCCGG‑TATCATTTGTACCAGAACATCTATCAATGTTTTTGTATCGTGTCAGGGTGCAATACGATCAATCTTCCACGCATCATTTTCACGCTGGTACAAAAAGCg < 1:512515/149‑1 (MQ=255) tttCGCCATATGCGAAAGAGACATAGAATAAAGTGCCAG‑AATCAGGAGTACCAGCGATTAAAGCAAGATTTTTGCATCTTTTCAGGGTGCAAGACGATCAATCTTCCACGCATCATTTTCACGCTGGTACAAAAAGCGGTCATGCAGGc < 1:180644/149‑1 (MQ=255) tcgacgaaTGCGAAAGAAACCTAGAAAAGCGTGGCAG‑GATCAGGAGTATGGGCGATTGCAGCCAGATTTTCGCATGTTTGCAGGGGGCAAGACGATCAGTCTCCCCCGCATCATTTTAACGCTGGTAAAAAAAGCGGTCATGCAGGCGa < 2:353383/142‑1 (MQ=255) tcgaccgATTCGAAAGAGCAATAGAATTAAGTTCCAG‑AATCAGGAGTATCAGCGATTAAATCAAGATTTTTGCATCTTTTCAGGGTGCAAGACGATCAATCTTCCACGCATCATTTTCACGCTGGTACAAAAAGCGGTCATGCAGGCGa < 2:516448/143‑1 (MQ=255) gAAAGAGACATAGAATAAAGTGCCAG‑AATCAGGAGTACCAGCGATTAAAGCAAGATTTGTGAATATTTTCAGGGTGCAAGACGATCAATCTTCCACGCATCATTTTCACGCTGGTACAAAAAGCGGTCATGCAGGCGATGCTCaccacc > 1:78563/1‑149 (MQ=255) aaaGAGACATAGAATAGAGTGCCAG‑AATCAGGAGTACCAGCGATTAAAGCAAGATTTTTGCATCTTTTCAGGGTGCAAGACGATCAATCTTCCACGCATCATTTTCACGCTGGTACAAAAAGCGGTCATGCAGGCGATGCTCACCAccc > 1:547598/1‑149 (MQ=255) aaaGAGACATAGAATAGAGTGCCAG‑AATCAGGAGTACCAGCGATTAAAGCAAGATTTTTGCATCTTTTCAGGGTGCAAGACGATCAATCTTCCACGCATCATTTTCACGCTGGTACAAAAAGCGGTCATGCAGGCGATGCTCACCAccc > 1:27607/1‑149 (MQ=255) aaaGAGACATAGAATAGAGTGCCAG‑AATCAGGAGTACCAGCGATTAAAGCAAGATTTTTGCATCTTTTCAGGGTGCAAGACGATCAATCTTCCACGCATCATCCCCGCTCTGGTACAGAAAGCGGTCATGCAGGCGATGCTCACCAccc > 1:129225/1‑149 (MQ=255) aaaGAGACATAGAATAAAGTGCCAG‑AATCAGGAGTACCAGCGATTAAAGCAAGATTTTTGCATCTTTTCAGGGTGCAAGACGATCAATCTTCCACGCATCATTTTCACGCTGGTACAAAAAGCGGTCATGCAGGCGATGCTCACCAccc < 1:56609/149‑1 (MQ=255) aaaGAGACATAGAATAAAGTGCCAG‑AATCAGGAGTACCAGCGACTAAAGCAAGATTTTTGCATCTTTTCAGGGTGCAAGACGATCAATCTTCCACGCATCATTTTCACGCTCGTACAAAAAGCGCTCACGCCGGCGATCCTacccacac > 2:480425/1‑147 (MQ=255) aTAGAATAAAGTGCCAG‑AATCAGGAGTACCAGCGATTAAAGCAAGATTTTTGCATCTTTTCAGGGTGCAAGACGATCAATCTTCCACGCATCATTTTCACGCTGGTACAAAAAGCGGTCATGCAGGCGATGCTCACCACCCTGCCAGaa < 1:22702/149‑1 (MQ=255) aTAGAATAAAGTGCCAG‑AATCAGGAGTACCAGCGATTAAAGCAAGATTTTTGCATCTTTTCAGGGTGCAAGACGATCAATCTTCCACGCATCATTTTCACGCTGGTACAAAAAGCGGTCATGCAGGCGATGCTCACCACCCTGCCAGaa < 1:606047/149‑1 (MQ=255) aTAGAATAAAGGCCCAG‑AATCAGGAGTACCAGCGATTAAAGCAAGATTTTTGCATCTTTTCAGAGTGCAAGACGATCAATCTTCCACGCATCATTTTCACGCTGGTACAAAAAGCGCTCATGCAGCCGATGCCCACCACCCTGCCAGaa > 2:530508/1‑149 (MQ=255) aaTAAAGTGCCAG‑AATCAGGAGTACCAGCGATTAAAGCAAGATTTTTGCATCTTTTCAGGGTGCAAGACGATCAATCTTCCACGCATCATTTTCACGCTGGTACAAAAAGCGGTCATGCAGGCGATGCTCACCACCCTGCCAGAACTCa > 1:244040/1‑149 (MQ=255) | CTCGTCCGTCACCTGGGCTACCAGCCCCCGCTCTTGCAATTGTTTAATCAAGTTACTGCTTGCCATCAAAATCTCCATGTATATAACGACTGCACCTTTGCCGGTACACGACTTTTCGCCAGATGCGAAAGAGACATAGAATAAAGTGCCAG‑AATCAGGAGTACCAGCGATTAAAGCAAGATTTTTGCATCTTTTCAGGGTGCAAGACGATCAATCTTCCACGCATCATTTTCACGCTGGTACAAAAAGCGGTCATGCAGGCGATGCTCACCACCCTGCCAGAACTCA > NC_000913_3_hsa_tpiA/1717157‑1717444 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |