| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 3,601,171 | C→T | 14.8% | A306T (GCA→ACA) | ftsX ← | putative ABC transporter permease |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 3,601,171 | 0 | C | T | 14.8% | 75.3 / 2.2 | 36 | A306T (GCA→ACA) | ftsX | putative ABC transporter permease |
| Reads supporting (aligned to +/- strand): ref base C (20/9); new base T (2/4); total (23/13) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.66e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.68e-01 | |||||||||||
TTTATTATTCAGGCGTAAAGTGGCGTAAATGTTGTACCGTGGCAAGCCACGCTGCCACCCAGCCAATCATCGAGCATACCAGCAGCAATAGCAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACAACAATGCGCCAGAAAATCCCAGCAGTGCGCCACCATACAGGAACGGGCGCAGGATGAATCCATCTGTCGCACCAATCAGTTTCTGTACG > NC_000913_3_hsa_tpiA/3601024‑3601319 | tttATTATTCAGGCGTAAAGTGGCGTAAATGTTGTACCGTGGCAAGCCACGCTGCCACCCAGCCAATCATCGAGCATACCAGCAGCAATAGCAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGcc > 1:668931/1‑149 (MQ=255) tGGCGTAAATGTTGTACCGTGGCAAGCCACGCTGCCACCCAGCCAATCATCGAGCATACCAGCAGCAATAGCAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGa > 1:673135/1‑149 (MQ=255) gCGTAAATGTTGTACAGGGGCAAGCCACGCTGCCACCCAGCCGACCACCGAGCATACCAGCAGCCATAGCAGGGACTCATCGAAGGATAAGCCTTGGCTATCAAACTTCGTGCCGAACACCTGTGCCACATCCGCCACAGCCGGAGACa > 2:690157/1‑149 (MQ=255) tACAGTGGCAAGCCACGCTGCCACCAAGCCAATAATCGAGCATACCAGCAGCAATAGCAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCa > 1:577078/1‑149 (MQ=255) cGTGGCAAGCCACGCTGCCACCCAGCCAATCATCGAGCATACCAGCAGCAATAGCAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGaa < 1:176815/149‑1 (MQ=255) gTGGCAAGCCACGCTGCCACCCAGCCAATCATCGAGCATACCAGCAGCAATAGCAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGTCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAAt > 1:206572/1‑149 (MQ=255) gTGGCAAGCCACGCTGCCACCCAGCCAATCATCGAGCATACCAGCAGCAATAGCAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGTCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAAt > 1:207180/1‑149 (MQ=255) aGCCACGCTGCCACCCAGCCAATCATCGAGCATACCAGCAGCAATAGCAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGa < 1:404973/149‑1 (MQ=255) ccACGCTGCCACCCAGCCAATCATCGAGCATACCAGCAGCAATAGCAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGCCa > 1:485738/1‑149 (MQ=255) aCGCTGCCACCCAGCCAATCATCGAGCATACCAGCAGCAATAGCAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGCAAATCGCAGCACCAGAATTTCTAACaaa > 1:214847/1‑149 (MQ=255) aCCCAGCCAATCATCGAGCATACCAGCAGCAATAGCAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATCACAATCGCAGCACCCGAATTCCTGACAAAATTAATGa > 2:63059/1‑149 (MQ=255) aGCCAATCATCGAGCATACCAGCAGCAATAGCAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGacaac > 2:310966/1‑149 (MQ=255) aGCCAATCATCGAGCATACCAGCAGCAATAGCAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCACCTCCGCAACCGCCGATGACACTCGCACGACCAGAATTTCTGACAAAATTAAAGacaaa > 2:607753/1‑148 (MQ=255) atcatcGAGCATACCAGCAGCAATAGCAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACACCAATgc > 1:107834/1‑149 (MQ=255) catcGAGCATACCAGCAGCAATAGCAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGCCAACAATgcgc > 1:35339/1‑149 (MQ=255) gAGCATGCCAGCAGCAATAGCAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACAACAATgcgcaaaa > 1:453391/1‑145 (MQ=255) cATACCAGCAGCAATAGCAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACAACAATGCGCCAGaaaa < 1:189601/149‑1 (MQ=255) cagcagCAATAGCAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGCTGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACATCAATGCGCCAGCAAATCCca > 2:685337/1‑149 (MQ=255) gcaATAGCAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCCGGCAAAATTAATGACAACAATGCGCCAGAAAATCCCAGCAGt > 1:498484/1‑149 (MQ=255) atggCAGGCATTCATCGAATGAGAAGCCAGTGATATCAAACTTCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACAACAATGCGCCAGAAAATCCCAGCAGTgcg < 2:253553/146‑1 (MQ=255) tAGCAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGTCAAAATTAATGACAACAATGCGCCAGAAAATCCCAGCAGTgcgc > 1:318983/1‑149 (MQ=255) cAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACAACAATGCGCCAGAAAATCCCAGCACTCCGcccc > 2:644820/1‑147 (MQ=255) gCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCCCTTCCGCAACCCCCGATGACAATCGCACCACCAGAATTTCTGACAAAATTAACGACACCAATGCGCCAGAAAATCCCAGCAGTGCCccaccct > 2:58313/1‑147 (MQ=255) gaTTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACAACAATGCGCCAGAAAATCCCAGCAGTGCGCCACCATa < 2:222401/148‑1 (MQ=255) ccgtCGAATGATAAGTCATTGATATCAAACTTCGTTTCGAAAACCTGTGTCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACAACAATGCGCCAGAAAATCCCAGCAGTGCGCCACCATACAg < 2:401488/146‑1 (MQ=255) tCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGACACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACAACAATGCGCCAGAAAATCCCAGAAGTGCGCCACCATACAGGaa > 1:311610/1‑149 (MQ=255) gAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACAACAATGCGCCAGAAAACCCAAGCAGTGCGCCACCATAATGGAACg > 2:419632/1‑149 (MQ=255) ccATAGATATCAAACTGCGTTCCGAAAACCTGTGTCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACAACAATGCGCCAGAAAATCCCAGCAGTGCGCCACCATACAGGAACGGGCGCAGGAt < 1:321694/149‑1 (MQ=255) atCAATCTTGGTTTCTAAAACCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACAACAATGCGCCAGAAAATCCCAGCAGTGCGCCACCATACAGGAACGGGCGCAGGATGAATCCAt < 1:494944/149‑1 (MQ=255) ttCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACCAAATTAATGACAACAATGCGCCAGAAAATCCCAGCAGTTCGCCACCATACAGGCACGCGCGCAGGATGAAACCATCTGTCGc > 2:275221/1‑149 (MQ=255) acGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACAACAATGCGCCAGAAAATCCCAGCAGTGCGCCACCATACAGGAACGGGCGCAGGATGAATCCATCTGTCGCa < 2:512515/148‑1 (MQ=255) ttCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACAACAATGCGCCAGAAAATCCCAGCAGTGCGCCCCAATACAGGAACGGACGCAGGATGAATCCATCTGTCGCACCa > 1:482095/1‑149 (MQ=255) aaaaCCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACAACAATGCGCCAGAAAATCCCAGCAGTGCGCCACCATACAGGAACGGGCGCAGGATGAATCCATCTGTCGCACCAATCAg > 1:25092/1‑149 (MQ=255) aCCTGTGTCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACAACAATGCGCCAGAAAATCCCAGCAGTGCGCCACCATACAGGAACGGGCGCAGGATGAATCCATCTGTCGCACCAATCAGttt < 2:207180/149‑1 (MQ=255) aCCTGTGTCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACAACAATGCGCCAGAAAATCCCAGCAGTGCGCCACCATACAGGAACGGGCGCAGGATGAATCCATCTGTCGCACCAATCAGttt < 2:206572/149‑1 (MQ=255) aCCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACAACAATGCGCCAGAAAATCCCAGCAGTGCGCCACCATACAGGAACGGGCGCAGGATGAATCCATCTGTCGCACCAATCAGttt < 1:310966/149‑1 (MQ=255) aCCGGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACAACAATGCGCCAGAAAATCCCAGCAGTGCGCCACCATACAGGAACGGGCGCAGGATGAATCCATCTGTCGCACCAATCAGttt < 1:36308/149‑1 (MQ=255) ccACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACAACAATGCGCCAGAAAATCCCAGCAGTGCGCCACCATACAGGAACGGGCGAAGGATGAATCCATGGGTGGCACCACTCAGTTTATGTACg > 1:314946/1‑149 (MQ=255) | TTTATTATTCAGGCGTAAAGTGGCGTAAATGTTGTACCGTGGCAAGCCACGCTGCCACCCAGCCAATCATCGAGCATACCAGCAGCAATAGCAGGCATTCATCGAATGATAAGCCATTGATATCAAACTTCGTTCCGAAAACCTGTGCCACTTCCGCAACCGCCGATGACAATCGCAGCACCAGAATTTCTGACAAAATTAATGACAACAATGCGCCAGAAAATCCCAGCAGTGCGCCACCATACAGGAACGGGCGCAGGATGAATCCATCTGTCGCACCAATCAGTTTCTGTACG > NC_000913_3_hsa_tpiA/3601024‑3601319 |
| 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: ‑ |