Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 5,452,102 | G→C | 8.3% | A211A (GCG→GCC) | lnt → | apolipoprotein N‑acyltransferase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 5,452,102 | 0 | G | C | 8.3% | 143.5 / 4.6 | 48 | A211A (GCG→GCC) | lnt | apolipoprotein N‑acyltransferase |
Reads supporting (aligned to +/- strand): ref base G (22/22); new base C (2/2); total (24/24) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.85e-01 |
GCCACTGGGCGGGGTATGGCTGATTTCCTTCACCCTCGCCCTTACCGCCGCCCTGCTGTGCAACCTGCACCGCCTGCGCCCCCGCCCCTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGCACATCGACGCGCAACTGGCGCTATACCGCGACCTGAGCTTCAGCTCCAGG > NC_002947/5451958‑5452249 | gcCACTGGGCGGGGTATGGCTGATTTCCTTCACCCTCGCCCTTACCGCCGCCCTGCTGTGCAACCTGCACCGCCTGCGCCCCCGCCCCTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTc > 1:148120/1‑148 (MQ=255) gcCACTGGGCGGGGTATGGCTGATATCCTTCACCCTCGCCCTTACCGCCGCCCTGCTGTGCAACCTGCACCGCCTGCGCCCCCGCCCCTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCA‑TGGCCCttg > 7:194602/1‑147 (MQ=255) aCTGGGCGGGGTATGGCTGATTTCCTTCACCCTCGCCCTTACCGCCGCCCTGCTGTGCAACCTGCACCGCCTGCGCCCCCGCCCCTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAgg > 8:172723/1‑149 (MQ=255) ggCGGGGTATGGCTGATTTCCTTCACCCTCGCCCTTACCGCCGCCCTGCTGTGCAACCTGCACCGCCTGCGCCCCCGCCCCTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCa > 2:205166/1‑149 (MQ=255) ggCGGGGTATGGCTGATTTCCTTCACCCTCGCCCTTACCGCCGCCCTGCTGTGCAACCTGCACCGCCTGCGCCCCCGCCCCTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCAGGGGGCTGGGCC‑TGGCGCTCAAGGGc < 4:63905/147‑1 (MQ=255) cGGGGTATGGCTGATTTCCTTCACCCTCGCCCTTACCGCCGCCCTGCTGTGCAACCTGCACCGCCTGCGCCCCCGCCCCTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGG‑CCCCTGGGGGCTGGGCC‑TGGCCCTTGAGCGCCAGGc < 5:203076/149‑1 (MQ=255) ggggTATGGCTGATTTCCTTCACCCTCGCCCTTACCGCCGCCCTGCTGTGCAACCTGCACCGCCTGCGCCCCCGCCCCTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGc < 2:148120/149‑1 (MQ=255) gTATGGCTGATATCCTTCACCCTCGCCCTTACCGCCGCCCTGCTGTGCAACCTGCACCGCCTGCGCCCCCGCCCCTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCA‑TGGCCCTTGAGCGCCAGGccca < 8:194602/149‑3 (MQ=255) tGGCTGATTTCCTTCACCCTCGCCCTTACCGCCGCCCTGCTGTGCAACCTGCACCGCCTGCGCCCCCGCCCCTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGAc < 5:145672/149‑1 (MQ=255) tttCCTTCACCCTCGCCCTTACCGCCGCCCTGCTGTGCAACCTGCACCGCCTGCGCCCCCGCCCCTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCg < 5:173108/149‑1 (MQ=255) aCCCTCGCCCTTACCGCCGCCCTGCTGTGCAACCTGCACCGCCTGCGCACCCGCCCCTCGTTCCTGGCCGTGGCCAGCGTTCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGa > 2:247796/1‑149 (MQ=255) tCGCCCTTACCGCCGCCCTGCTGTGCAACCTGCACCGCCTGCGCCCCCGCCCCTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCg < 8:37503/137‑1 (MQ=255) tCGCCCTTACCGCCGCCCTGCTGTGCAACCTGCACCGCCTGCGCCCCCGCCCCTCGTACCTCGCCGTGGCCAGCGTGCAGTTGCTGGCCACCTGGGGGCTGGGCC‑TGGCGCTCAAGGGACATGCCTGGACCATTCCGGCTGGCGATCCg > 1:173532/1‑149 (MQ=255) aCCGCCGCCCTGCTGTGCAACCTGCACCGCCTGCGCCCCCGCGCCTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑aaa < 3:38511/147‑1 (MQ=255) cgccgcCCTGCTGTGCAACCTGCACCGCCTGCGCCCCCGCCCCTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTgg < 3:274855/149‑1 (MQ=255) gtgCAACCTGCACCGCCTGCGCCCCCGCCCCTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAg > 7:101921/1‑134 (MQ=255) gtgCAACCTGCACCGCCTGCGCCCCCGCCCCTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAg < 8:101921/134‑1 (MQ=255) aCCTGCACCGCCTGCGCCCCCGCCCCTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑Ac < 1:205166/149‑1 (MQ=255) ccTGCACCGCCTGCGCCCCCGCCCCTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACg > 8:149198/1‑149 (MQ=255) cGCCTGCGCCCCCGCCCCTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAg > 1:173010/1‑147 (MQ=255) gccccTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATgg < 7:149198/149‑1 (MQ=255) cccTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGa < 2:201257/149‑1 (MQ=255) cTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCCAGGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGAc > 1:251320/1‑149 (MQ=255) cTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGca > 6:125624/1‑149 (MQ=255) tGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGca > 4:256457/1‑148 (MQ=255) ccGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGCACATc > 7:180305/1‑149 (MQ=255) gCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGCACATCGAcgc > 2:267661/1‑149 (MQ=255) cTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCATTCGTCGAGCAGGACCTGAAATGGGACCCCGCGCACATCGACGCGCAACTgg < 1:247796/149‑1 (MQ=255) cTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGCACATCGACGCGCAACTgg < 7:172723/148‑1 (MQ=255) tGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGCACATCGACGCGCAACTGgcg > 3:38453/1‑149 (MQ=255) gTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGCACATCGACGCGCAACTGgcgc > 6:112936/1‑149 (MQ=255) tGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGCACATCGACGCGCAACTgg < 3:28866/141‑1 (MQ=255) tGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGCACATCGACGCGCAACTgg > 4:28866/1‑141 (MQ=255) ggCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGCACATCGACGCGCAACTGGCGCTATAcc > 2:196763/1‑149 (MQ=255) ggCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGCACATCGACGCGCAACTGGCGCTATAcc > 3:145559/1‑149 (MQ=255) gCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGAcc > 3:303070/1‑103 (MQ=255) gCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGAcc < 4:303070/103‑1 (MQ=255) cccccTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGCACATCGACGCGCAACTGGCGCTATACcgc < 4:145559/149‑1 (MQ=255) ccacgtGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGCACATCGACGCGCAACTGGCGCTATACcgc < 3:252828/144‑1 (MQ=255) ccccTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGCACATCGACGCGCAACTGGCGCTATACcgcg > 6:313055/1‑149 (MQ=255) cccTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGCACATCGACgcgc < 5:277181/130‑1 (MQ=255) cccTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGCACATCGACgcgc > 6:277181/1‑130 (MQ=255) ccTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGCACATCGACGCGCAACTGGCGCTATACCGCGAc < 5:125624/149‑1 (MQ=255) ccTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGCACATCGACGCGCAACTGGCGCTATACCGCGAc < 2:173010/149‑1 (MQ=255) ggggCTGGGCC‑TGGCGCTCAAGGGCCATGGCTGGAGCTTTGCGGCTGGCGATCCGGTG‑ATATTGGCAGCGGTCGAGGGCA‑ACGTCGAGCAGGACCTGAAATGTGACCCCGCGCACATCGACGCGCAACTGGCGCTATTCCGCGACCTGa < 2:173532/149‑1 (MQ=255) gtccaggCA‑TGGCCCTTGAGCGCCAGGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGCACATCGACGCGCAACTGGCGCTATACCGCGACCTGAGc > 2:234333/6‑149 (MQ=255) cTGGGCC‑TGGCGCTCAAGGTCCATGCCTGGACGATTCCGGCAGTCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGCAGATCGACGCGCAACTGGCGCTATACCGCGACCTGAGCt < 3:23212/148‑1 (MQ=255) ggCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTC‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGAACAGAAATCGGACCCCGCGCACATCGACGCGCAACTGGAGCTATACCGCGACCTGAGAttag > 4:23212/1‑146 (MQ=255) gcTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTGAAAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGCACATCGACGCGCAACTGGCGCTATACCGCGACCTGAGCTTCAGCTCCAgg > 1:69419/1‑149 (MQ=255) | GCCACTGGGCGGGGTATGGCTGATTTCCTTCACCCTCGCCCTTACCGCCGCCCTGCTGTGCAACCTGCACCGCCTGCGCCCCCGCCCCTCGTTCCTGGCCGTGGCCAGCGTGCTGTTGCTGGCCCCCTGGGGGCTGGGCC‑TGGCGCTCAAGGGCCATGCCTGGACCATTCCGGCAGGCGATCCGCTG‑AAAGTGGCAGCGATCCAGGGCA‑ACGTCGAGCAGGACCTGAAATGGGACCCCGCGCACATCGACGCGCAACTGGCGCTATACCGCGACCTGAGCTTCAGCTCCAGG > NC_002947/5451958‑5452249 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 21 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |