| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 3,946,161 | G→T | 9.8% | noncoding (2458/2904 nt) | rrlC → | 23S ribosomal RNA of rrnC operon |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 3,946,161 | 0 | G | T | 9.8% | 162.2 / 6.9 | 58 | noncoding (2458/2904 nt) | rrlC | 23S ribosomal RNA of rrnC operon |
| Reads supporting (aligned to +/- strand): ref base G (24/28); new base T (2/4); total (26/32) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 6.81e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
AAAGCAGGTCATAGTGATCCGGTGGTTCTGAATGGAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCG > NC_000913_3_hsa_tpiA/3946079‑3946310 | aaaGCAGGTCATAGTGGTCCGGTGGTTCTGAATGGAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGa < 2:172504/150‑1 (MQ=11) aaGTAGGACTTAGTGATCCGGCGGTCCCGTGTGGAAGGGCCGTCGCTCAACGGATAAAAGTTACCCCGGGGATAACAGGCTTATCTCCCCCAAGAGTTCACATCGACGGGGAGGTTTGGCACCTCGATGTCGGCTCATCGCATCCTGGAg < 2:441922/150‑1 (MQ=2) aGCAGGTCATGGTGATCCGGTGGTTCTGAATGGAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGc > 4:222001/1‑150 (MQ=17) aGCAGGTCATAGTGATCCGGTGGTTCTGAATGGAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCACATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGc > 1:310236/1‑150 (MQ=17) gCAGGTCATAGTGATCCGGTGGTTCTGAATGGAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCt > 3:353130/1‑150 (MQ=32) cAGGTCATAGTGATCCGGTGGTTCTGAATGGAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTg < 4:361238/150‑1 (MQ=32) ggTCATAGTGATCCGGTGGTTCTTAATGTAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGaa < 2:423634/150‑1 (MQ=17) ttAGTGATCCGGCGGTCCCGTGTGGAAGGGCCGTCGCTCAACGGATAAAAGTTACCCCGGGGATAACAGGCTTATCTCCCCCAAGAGTTCACATCGACGGGGAGGTTTGGCACCTCGATGTCGGCTCATCGCATCCTGGAGCTGTAGtcg > 2:412467/2‑148 (MQ=2) aTAGTGATCCGGTGGTTCTGAATGGAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAg < 1:574166/150‑1 (MQ=32) aTAGTGATCCGGTGGTTCTGAATGGAACGGCGCTAGATCAACGGATATTAGGTATCAAGGGGATAAAAGGTTGATATCGCACAAGCGTTCATTTCGACGACGGTGTTTGGCATCTTGATGTTGGCTCATCACAACCTGGAGCTGAAATAg > 4:4456/1‑150 (MQ=2) tAGTGATCCGGTGGTTCTGAATGGAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAgg > 3:120854/1‑150 (MQ=32) aGTGATCCGGTGGTTCTGAATGGAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGt > 1:104386/1‑150 (MQ=32) gTGATCCGGTGGTTCTGAATGGAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTc < 2:470341/150‑1 (MQ=32) gTGATCCGGTGGTTCTGAATGGAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACAGCCTGGAGCTGAAGTAGGTc > 2:581395/1‑150 (MQ=17) aTCCGGTGGTTCTGAATGGAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCa > 2:182465/1‑150 (MQ=32) aTCCGGTGGTTCTGAATGGAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCa > 1:121382/1‑150 (MQ=32) gggtggtTCTGAATGGAAGGGCCATCGCTCAACGGATAAAAGGTACTACGGGGATAACAGGCTGCTACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGTAGGAGGTCCCAAgg < 4:320806/149‑1 (MQ=255) ggtggtTCTGAATGGAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAggg > 4:164481/1‑150 (MQ=32) gtggtTCTGAATGGAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGt < 2:120695/150‑1 (MQ=32) tggtTCTGAATGGAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTa < 3:49486/150‑1 (MQ=32) ttCTGAATGGAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATgg < 3:320000/150‑1 (MQ=32) cTGAATGGAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCt < 4:256034/150‑1 (MQ=32) cgtgtGGAAGGGCCGTCGCTCAACGGATAAAAGTTACCCCGGGGATAACAGGCTTATCTCCCCCAAGAGTTCACATCGACGGGGAGGTTTGGCACCTCGATGTCGGCTCATCGCATCCTGGAGCTGTAGTCGGTTCCAAGGGTTGGGCTg > 4:278234/5‑150 (MQ=2) aaTGGAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGtt > 2:276914/1‑150 (MQ=32) aTGGAAGGGCCATCGCTCAACGGATACAAGGTATTCCGGAGACAACAGGCTGCTCCCGACCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCTATGTCGGCTCCTCACATCCTCGAGCTGCAGTAGGGCCCAAGGGTATGGCTGtgc < 2:224566/150‑3 (MQ=11) tGGAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCg > 2:591332/1‑150 (MQ=32) ggAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGc < 2:28782/150‑1 (MQ=32) ggAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGc < 3:156764/150‑1 (MQ=32) gAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGcc < 1:229838/150‑1 (MQ=32) aaGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCa > 4:250313/1‑150 (MQ=32) aGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCAt < 1:164190/150‑1 (MQ=32) gggCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCAtt > 4:363753/1‑150 (MQ=32) gggCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGAATGGCTGTTCGCCAtt > 1:492476/1‑150 (MQ=17) gCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTa < 1:110687/150‑1 (MQ=32) cATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTTATACCGGCCAAGAGTTCATAGCTACGGCGTTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTaaa < 4:106501/150‑1 (MQ=11) cATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTaaa < 4:188349/150‑1 (MQ=32) cgcgCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTg < 4:61307/150‑1 (MQ=17) cGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTg < 2:220604/150‑1 (MQ=32) gCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTgg > 1:53019/1‑150 (MQ=32) gCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTgg > 3:71334/1‑150 (MQ=32) gCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTgg > 3:372101/1‑150 (MQ=32) gCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCAAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTgg > 2:42030/1‑150 (MQ=17) cTCAACGGATAAAAGTTACCCCGGGGATAACAGGCTTATCTCCCCCAAGAGTTCCCATGGACGGGGAGGTTTGGCACCTCGATGTCGGCTCATCGCATCCTGGAGCTGTAGTCGGTTCCAAGGGTTGGGCTGTTCGCCCATTAAAGCGGt < 1:37098/150‑1 (MQ=2) cTCAACGGATAAAAGTTACCCCGGGGATAACAGGCTTATCTCCCCCAAGAGTTCACATCGACGGGGAGGTTTGGCACCTCGATGTCGGCTCATCGCATCCTGGAGCTGTAGTCGGTTCCAAGGGTTGGGCTGTTCGCCCATTAAAGCGGt < 1:442957/150‑1 (MQ=2) aaCGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTAcg < 1:482039/150‑1 (MQ=32) ccGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAAc > 1:407658/1‑150 (MQ=32) ggATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAAcgtcg < 1:565359/150‑1 (MQ=32) aTAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTg > 3:237604/1‑150 (MQ=32) aTAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTg < 4:381413/150‑1 (MQ=32) aTAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTg < 1:36728/150‑1 (MQ=32) aTAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTg < 2:525124/150‑1 (MQ=32) aTAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTg < 2:78665/150‑1 (MQ=32) aTAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTg > 3:22646/1‑150 (MQ=32) tAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTga < 1:161598/150‑1 (MQ=32) aCAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTgaga < 1:135102/150‑1 (MQ=32) cAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCGGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTGCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGAc > 2:88893/1‑150 (MQ=17) aGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACa < 2:195653/150‑1 (MQ=32) tGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTc > 1:156017/1‑150 (MQ=32) gATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCg < 4:353707/150‑1 (MQ=32) | AAAGCAGGTCATAGTGATCCGGTGGTTCTGAATGGAAGGGCCATCGCTCAACGGATAAAAGGTACTCCGGGGATAACAGGCTGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCG > NC_000913_3_hsa_tpiA/3946079‑3946310 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |