Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 4,159,168 | G→A | A233T (GCA→ACA) | oxyR → | oxidative and nitrosative stress transcriptional regulator |
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 | 4,159,168 | 0 | G | A | 96.8% | 95.8 / NA | 31 | A233T (GCA→ACA) | oxyR | oxidative and nitrosative stress transcriptional regulator |
Reads supporting (aligned to +/- strand): ref base G (0/0); major base A (15/15); minor base T (0/1); total (15/16) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.98e-01 |
GCAGGGGAAAAACTGCTGATGCTGGAAGATGGTCACTGTTTGCGCGATCAGGCAATGGGTTTCTGTTTTGAAGCCGGGGCGGATGAAGATACACACTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGGCAGGTAGCGGGATCACTTTACTGCCAGCGCTGGCTGTGCCGCCGGAGCGCAAACGCGATGGGGTTGTTTATCTGCCGTGCATTAAGCCGGAACCACGCCGCACTATTGGCCTGGTTTATCGTCCTGGCTCACCGCTG > NC_000913_3_hsa_tpiA/4159030‑4159305 | gCAGGGGAAAAACTGCTGATGCTGCAAGGTGGTCACTGTTTGCGAGAACAGGCAATGGGTTTCTGTTTTGAAGCCGGGGCGGATGAAGATACACACTTCCGCGCGACCAGCCTGGAAGCTCTGCGCAACATGTTGACGACAGGTGGCgg > 2:83859/1‑149 (MQ=255) gggtAAAAACTGCTGATGCTGGAAGATGGTCACTGTTTGCGCGATCAGGCAAGGGGTTTCTGTTTTGAAGCCGGGGCGGATGAAGATACACACTTCCGCGCGAGCAGCCTGGAAACTCTGCGCAACATGGTGGCGTCAGGTAGCGGTAt < 2:87985/149‑1 (MQ=255) ggggAAAAACTGCTGATGCTGGAAGCGGGTCACTGTTTGCGCGATCAGACAATGGGTTTCTGGTTTGAAGCCGGGGCGGATGAAGATACACACGTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCGGGAt < 2:352135/149‑1 (MQ=255) gAAAAACTGCTGATGCTGGAAGATGGTCACTGTTTGCGCGATCAGGCAATGGGTTTCTGTTTTGAAGCCGGGGCGGATGAAGATACACACTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCgg < 1:248047/143‑1 (MQ=255) gAAAAACTGCTGATGCTGGAAGATGGTCACTGTTTGCGCGATCAGGCAATGGGTTTCTGTTTTGAAGCCGGGGCGGATGAAGATACACACTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCgg > 2:248047/1‑143 (MQ=255) aCTGCTGATGCTGGAAGATGGTCACTGTTTGCGCGATCAGGCAATGGGTTTCTGTTTTGAAGCCGGGGCGGATGAAGATACACACTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCGGGGTCACTTTAc > 1:573210/1‑149 (MQ=255) ctgccgATGCTGCAAGATGGTCACTGTTTGTGCGATCAGGCAATGGGTTTCTGTTTTGAACCCGGGGCGGATGAAGATACACACTGCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCGGGATCACTTTACt < 1:154521/149‑1 (MQ=255) tgATGCTGGAAGATTGTCACTGTTTGCGCGATCAGTCAATGGGTTTCTGTTTTGAAGCCGGGGCGGATGAAGATACACACTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCGGGATCACTTTACTGCCa < 2:175695/149‑1 (MQ=255) tGGAAGATGGTCACTGTTTGCGCGATCAGGCAATGGGTTTCTGTTTTGAAGCCGGGGCGGATGAAGATACACACTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCGGGATCACTTTAc < 1:219163/138‑1 (MQ=255) tGGAAGATGGTCACTGTTTGCGCGATCAGGCAATGGGTTTCTGTTTTGAAGCCGGGGCGGATGAAGATACACACTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCGGGATCACTTTAc > 2:219163/1‑138 (MQ=255) ggAAGATGGTCACTGTTTGCGCGATCAGGCAATGGGTTTCTGTTTTGAAGCCGGGGCGGATGAAGATACACACTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCGGGATCACTTTACTGCCAGCgctgg < 2:377579/149‑1 (MQ=255) aaGATGGTCACTGTTTGCGCGACCAGGCAATGGGTTTCTGTTTTGAAGCCGGGGCGGATGAAGATACACACTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACCTGGTGGCGACAGGTAGCGGGATCACTTTACTGCCAGCgctggct < 1:643537/149‑1 (MQ=255) gATGGTCACTGTTTGCGCGATCAGGCAATGGGTTTCTGTTTTGAAGCCGGGGCGGATGAAGATACACACTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCGGGATCACTTTACTGCCAGCGCTGGCtgt > 1:405345/1‑149 (MQ=255) tGGTCACTGTTTGCGCGATCAGGCAATGGGTTTCTGTTTTGAAGCCGGGGCGGATGAAGATACACACTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCGGGATCACTTTACTGCCAGCGCTGGCTGTgc > 1:410565/1‑149 (MQ=255) cTGTTTGCGCGATCAGGCAATGGGTTTCTGTTTTGAAGACGGGGCGGATGACGATACACACTTCCGCGCGACCAGCCTGGACACTCTGCGCAACATGGAGGCGACAGCGCGCGGGAGCACTTTACTGCCAGCGCTGGCTGTGccgccgt > 2:209284/1‑148 (MQ=255) cAGGCAATGGTTTTCTGTTTTGAAGCCGGGGCGGATGAAGATACACACTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCGGGATCACTTTACTGCCAGCGCTGGCTGTGCCGCCGGAGCGCAAACGCGa < 1:363616/149‑1 (MQ=255) gaaTGGGTTTCTGTTTTGCCACTGCGTCGGAGGAAGATACACACTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCGGGATCACTTTACTGCCAGCGCTGGCTGTGCCGCCGGAGCGCAAACGCGATggg < 1:491484/148‑1 (MQ=255) tttCTGTTTTGAAGCCGGGGCGGATGAAGATACACACTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCGGGATCACTTTACTGCCAGCGCTGGCTGTGCCGCCGGAGCGCAAACGCGATGGGGTTGttt > 1:196710/1‑149 (MQ=255) tCTGTTTTGAAGCCGGGGCGGATGAAGATACACACTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCGGGATCACTTTACTGCCAGCGCTGGCTGTGCCGCCGGAGCGCAAACGCGATGGGGTTGTTTAt > 1:301358/1‑149 (MQ=255) tttGAAGCCGGGGCGGATGAAGATACACACTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCGGGATCACTTTACTGCCAGCGCTGGCTGTGCCGCCGGAGCGCAAACGCGATGGGGTTGTTTATCTGcc < 1:717593/149‑1 (MQ=255) gCCGGGGCGGATGAAGTTACACACTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCGGGATCACTTTACTGCCAGCGCTGGCTGTGCCGCCGGAGCGCAAACGCGATGGGGTTGTTTATCTGCCGTGCAt > 1:628856/1‑149 (MQ=255) gggCGGATGAAGATACACACTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCGGGATCACTTTACTGCCAGCGCTGGCTGTGCCGCCGGAGCGCAAACGCGATGGGGTTGTTTATCTGCCGTGCATTAAg < 1:514980/149‑1 (MQ=255) gggCGGATGAAGATACACACTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCGGGATCACTTTACTGCCAGCGCTGGCTGTGCCGCCGGAGCGCAAACGCGATGGGGTTGTTTATCTGCCGTGCATTAAg > 1:362716/1‑149 (MQ=255) gggCGGATGAAGATACACACTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCGGGATCACTTTACTGCCAGCGCTGGCTGTGCCGCCGGAGCGCAAACGCGATGGGGTTGTTTATCTGCCGTGCATTAAg > 2:514980/1‑149 (MQ=255) aaGATACACCCCTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCGGGATCACTTTACTGCCAGCGCTGGCTGTGCCGCCGGAGCGCAAACGCGATGGGGTTGTTTATCTGCCGTGCATTAAGCCGGAACCa < 1:151596/149‑1 (MQ=255) acacTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCGGGATCACTTTACTGCCAGCGCTGGCTGTGCCGCCGGAGCGCAAACGCGATGGGGTTGTTTATCTGCCGTGCATTAAGCCGGAACCACGCCGCa > 2:399251/1‑149 (MQ=255) aCCAGCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCGGGATCACTTTACTGCCAGCGCTGGCTGTGCCGACGGAGCGCAAACGCGATGGGGTTGTTTATCTGCCGTGCATTAAGCCGGAACCACGCCGCACTATTGGCCTGGt < 2:256189/149‑1 (MQ=255) gCCTGGAAACTCTGCGCAACATGGTGGCGACAGGTAGCCGGATCACTTTACTGCCAGCGCTGGCTGTTCCGCAGGAGCGCAAACGCGATGGGGTTGTTTATCTGCCGTGCATTAAGCCGGAACCCACCCGCCCTCTTGGCCTGGTTTAt > 2:82733/1‑149 (MQ=255) cgcAACATGGTGGCGACAGGTAGCGGGATCACTTTACTGCCAGCGCTGGCTGTGCCGCCGGAGCGCAAACGCGATGGGGTTGTTTATCTGCCGTGCATTAAGCCGGAACCACGCCGCACTATTGGCCTGGTTTATCGTCCTGGCTCAcc > 2:208203/1‑149 (MQ=255) aaCATGGTGGCGACAGGTAGCGGGATCACTTTACTGCCAGCGCTGGCTGTGCCGCCGGAGCGCAAACGCGATGGGGTTGTTTATCTGCCGTGCATTAAGCCGGAACCACGCCGCACTATTGGCCTGGTTTATCGTCCTGGCTCACCGCt < 1:305718/149‑1 (MQ=255) aCAGGGGGGCGACAGGTAGCGGGATCACTTTACTGCCAGCGCTAGGTATGCCGGGGTAGCTCAAACGCGATGGGGTTGTCCATCTGCCGTGCATTAAGCCGGAACCACGCCGCACTATTGTCCTGGTTTATCGTCCTGGCTCACCGCTg < 2:582312/149‑1 (MQ=255) | GCAGGGGAAAAACTGCTGATGCTGGAAGATGGTCACTGTTTGCGCGATCAGGCAATGGGTTTCTGTTTTGAAGCCGGGGCGGATGAAGATACACACTTCCGCGCGACCAGCCTGGAAACTCTGCGCAACATGGTGGCGGCAGGTAGCGGGATCACTTTACTGCCAGCGCTGGCTGTGCCGCCGGAGCGCAAACGCGATGGGGTTGTTTATCTGCCGTGCATTAAGCCGGAACCACGCCGCACTATTGGCCTGGTTTATCGTCCTGGCTCACCGCTG > NC_000913_3_hsa_tpiA/4159030‑4159305 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |