Predicted mutation
evidence seq id position mutation freq annotation gene description
RA CP009273 3,055,107 C→A 11.5% A300E (GCG→GAG)  scpA → methylmalonyl‑CoA mutase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*CP0092733,055,1070CA11.5% 95.6 / 2.3 35A300E (GCG→GAG) scpAmethylmalonyl‑CoA mutase
Reads supporting (aligned to +/- strand):  ref base C (17/14);  new base A (2/2);  total (19/16)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.19e-01

ATCGCCTGGTGTTCCGGCAACATGCCGCGATTTAATACCATCAGTATCAGCGGTTACCACATGGGTGAAGCGGGTGCCAACTGCGTGCAGCAGGTAGCATTTACGCTCGCTGATGGGATTGAGTACATCAAAGCAGCAATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTCGTTCTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTGGAGCCTGACTGAACAGGATCCGTATAACAACGTTATCCGCACCACCATTGAAGCGCTGGCTGCGACGCTGGGCGGTACTCAGTCACTGCATACCAACGCCTTTGACGAAGCGCTTGGTTTGCCTACCGATTTCTCAGCACGCATTGCCCGCAACACCCAGATCAT  >  CP009273/3054848‑3055341
                                                                                                                                                                                                                                                                   |                                                                                                                                                                                                                                          
atcGCCTGGTGTTCCGGCAACATGCCGCGATTTAATACCATCCGTATCAGCGGTTACCACATGGGTGAAGCGGGTGCCCACTGCGTGCAGCAGGTAGCCTTTACTCTCGCTGATGGGATTGAGTACATCAAAGCAGCAATCTCTGCCGGACTGAAAATTGATTACTTCGCTCCTCGCCTGTCGTTCTTCTTCGGCATCGTCATTGATCTGTTTATGAACGTCGCCCTTTTGCGTTCCGCCCGTTATTTATGTGGTGCAGCGGTCTGTGTCTTTgg                                                                                                                                                                                                                             >  2:7555/1‑275 (MQ=255)
                   aCATGCCGCGATTTAATACCATCAGTATCAGCGGTTACCACATGGGTGAAGCGGGTGCCAACTGCGTGCAGCAGGTAGCATTTACGCTCGCTGATGGGATTGAGTACATCAAAGCAGCAATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTCGTTCTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGAGAGTggc                                                                                                                                                                                                                                  >  2:486482/1‑250 (MQ=255)
                       gCCGCGATTTAATACCATCAGTATCAGCGGTTACCACATGGGTGAAGCGGGTGCCTACTGCGTGCAGCAGGTAGCATTTACGCTCGCTGATGGGATTGAGTACATCAAAGCAGCAATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTCGTTCTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTg                                                                                                                                                                                                                              <  1:486495/251‑1 (MQ=255)
                                                 gCGGTTACCACATGGGTGAAGCGGGTGCCAACTGCGTGCAGCAGGTAGCATTTACGCTCGCTGATGGGATTGAGTACATCAAAGCAGCAATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTCGTTCTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCGCCAGGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCAAAGGACCCGAAATCACTGGCGCTGCGTACCAACTGCCAGACCTCa                                                                                                                                                                            >  1:279941/1‑275 (MQ=255)
                                                      tACCACATGGGTGAAGCGGGTGCCAACTGCGTGCAGCAGGTAGCATTTACGCTCGCTGATGGGATTGAGTACATCAAAGCAGCAATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTCGTTCTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCGCGATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTg                                                                                                                                                                       >  1:305648/1‑275 (MQ=255)
                                                       aCCACATGGGTGAAGCGGGTGCCAACTGCGTGCAGCAGGTAGCATTTACGCTCGCTGATGGGATTGAGTACATCAAAGCAGCAATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTCGTTCTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGgcgc                                                                                                                                                                                                                          >  1:308745/1‑223 (MQ=255)
                                                           caTGGGTGAAGCGGGTGCCAACTGCGTGCAGCAGGTAGCATTTACGCTCGCTGATGGGATTGAGTACATCAAAGCAGCAATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTCGTTCTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAg                                                                                                                                                                                                                      <  2:308736/223‑1 (MQ=255)
                                                                     gCGGGTGCCAACTGCGTGCAGCAGGTAGCATTTACGCTCGCTGATGGGATTGAGTACATCAAAGCAGCAATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTCGTTCTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTTCGTGCGGCCCGTTCTTTATGGAGCGAAGCGGTCAGTGGATTTAGGCCACAGGACCCGAAATCACAGGCGCGGCGTACCCACTGACCTACCGCAGGATGCACCctgacgta                                                                                                                                                           >  2:443309/1‑269 (MQ=255)
                                                                       gtgTGCCAACTGCGTGCAGCAGGTAGCATTTACGCTCGCTGATGGGATTGAGTACATCAAAGCAGCAATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTCGTTCTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTGGAGCCTGACTGAACAgg                                                                                                                                                      <  1:73994/273‑1 (MQ=255)
                                                                             ttattGCGTGCAGCGGGTTGCAATTTCGCTCTCTGATGTGATTGATTACTACAAAGCAGCAATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTCGTTCTTCTTCGGCATCAGCATGTATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTGGAGCCTGACTGAACAGGATCCg                                                                                                                                                 <  1:443322/270‑1 (MQ=255)
                                                                                                                                   agcagcAATCTCTGCCGGACTGAATATTGATGACTTCGCTCCTCGCCTGTCGTTCTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGt                                                                                                                                                                                                                                     >  1:352079/1‑136 (MQ=255)
                                                                                                                                       gcaATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTCGTTCTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGAt                                                                                                                                                                                                                                 <  2:352067/136‑1 (MQ=255)
                                                                                                                                                                                        tcttcttcGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAg                                                                                                                                                                                  >  2:279320/1‑134 (MQ=255)
                                                                                                                                                                                           tcttcGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGgcgc                                                                                                                                                                                                   >  1:116133/1‑114 (MQ=255)
                                                                                                                                                                                            cttcGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCt                                                                                                                                                                              <  1:279328/134‑1 (MQ=255)
                                                                                                                                                                                               cggcatcggcatGGATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCg                                                                                                                                                                                               <  2:116127/114‑1 (MQ=255)
                                                                                                                                                                                                            gATCTGTTTTTGAACGTCGCAATGTTGCGTGCGGCACTTTATTTATGTGGCGAAGCGGTCAGTGGATGTGGCGCACAGGACCCGAAATCACTGGCGCGGCGTACCCACTGCCAGACCTCAGGCTGGAGCCTGACTGAACAGGATCCGTATAACAACGTTATCCGCACCACCATTGAAGCGCTGGCTGCGACGCTGGGCGGTACTCAGTCACTGCATACCAACGCCTTTGACGAAGCGCTTGGTTTGCCTACCGATTTCTCAGCACGCATTGCCCg                 <  1:154312/275‑1 (MQ=255)
                                                                                                                                                                                                                  tttATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCAc                                                                                                                                                                                                         >  2:339458/1‑85 (MQ=255)
                                                                                                                                                                                                                  tttATGAACGTCGCCATGTTGCGTGCGGCACGTTATTAATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACt                                                                                                                                                                                                        >  1:198324/1‑86 (MQ=255)
                                                                                                                                                                                                                      tGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGCATTGACGCACAGGACCCGAAATCACTGgc                                                                                                                                                                                                     <  1:339470/85‑1 (MQ=255)
                                                                                                                                                                                                                      tGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGgcg                                                                                                                                                                                                    <  2:198318/86‑1 (MQ=255)
                                                                                                                                                                                                                            tCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTGGAGCCTGACTGAACAGGATCCGTATAACAACGTTATCCGCACCACCATTGAAGCGCTGGCTTCGACGCTGGGCGGTACTCAGTCACTGCATACCAACGCCTTTGACGAAGCGCTTGGTTTGCCTACCGCTTTCTCAGCACGCATTGACCGCAACACCCAAaccat  >  1:317852/1‑274 (MQ=255)
                                                                                                                                                                                                                            tCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTGGAGCCTGACTGAACAGGATCCGTATAACAACGTTATCCGCACCACCATTGAAGCGCTGGCTGCGACGCTGGGCGGTACTCAGTCACTGCATACCAACGCCTTTGACGAAGCGCTTGGTTTGCCTACCGATTTCTCAGCACGCCTTGCCCGCAACACCCAGatcag  >  1:258863/1‑273 (MQ=255)
                                                                                                                                                                                                                                       cgtgcgGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTGGAGCCTGACTGAACa                                                                                                                                                        >  2:398144/1‑113 (MQ=255)
                                                                                                                                                                                                                                       cgtgcgGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTGGAGCCTGACTGAACAGGATCCGTATAACAACGTTATCCGCACCACCATTGAAGCGCTGGCTGCGATGCTggg                                                                                               <  2:202375/170‑1 (MQ=255)
                                                                                                                                                                                                                                       cgtgcgGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTGGAGCCTGACTGAACAGGATCCGTATAACAACGTTATCCGCACCACCATTGAAGCGCTGGCTGCGATGCTggg                                                                                               >  1:202381/1‑170 (MQ=255)
                                                                                                                                                                                                                                           cgGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTTGAGCCTGACTGAACAGGAt                                                                                                                                                    <  1:398157/113‑1 (MQ=255)
                                                                                                                                                                                                                                                        atGGAGCGAAGCGGTCAGTGGATTTGACGCACAGGACACGAAATCACTGGCCTTGCGTAACCACTGCCAGACCta                                                                                                                                                                             >  2:350823/1‑74 (MQ=255)
                                                                                                                                                                                                                                                           gAGCGAAGAGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTGGAGCCTGACTGaa                                                                                                                                                          >  1:80620/1‑91 (MQ=255)
                                                                                                                                                                                                                                                           gAGCGAAGAGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTGGAGCCTGACTGaa                                                                                                                                                          >  1:389969/1‑91 (MQ=255)
                                                                                                                                                                                                                                                            aGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCAATGGAGCTGGGTACCCATTGCCAGACCTAAGGc                                                                                                                                                                         <  1:350835/75‑1 (MQ=255)
                                                                                                                                                                                                                                                             gCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTGGAGCCTGACTGAACAGGATCCGTATAACAACGTTATCCGCACCACCATTGAAGCGCTGGCTGCGACGCTGGGc                                                                                              >  2:7801/1‑149 (MQ=255)
                                                                                                                                                                                                                                                               gAAGAGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTGGAGCCTGACTGAACAgg                                                                                                                                                      <  2:80618/91‑1 (MQ=255)
                                                                                                                                                                                                                                                               gAAGAGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTGGAGCCTGACTGAACAgg                                                                                                                                                      <  2:389956/91‑1 (MQ=255)
                                                                                                                                                                                                                                                                 aGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTGGAGCCTGACTGAACAGGATCCGTATAACAACGTTATCCGCACCACCATTGAAGCGCTGGCTGCGACGCTGGGCGGTa                                                                                          <  1:7801/149‑1 (MQ=255)
                                                                                                                                                                                                                                                                   |                                                                                                                                                                                                                                          
ATCGCCTGGTGTTCCGGCAACATGCCGCGATTTAATACCATCAGTATCAGCGGTTACCACATGGGTGAAGCGGGTGCCAACTGCGTGCAGCAGGTAGCATTTACGCTCGCTGATGGGATTGAGTACATCAAAGCAGCAATCTCTGCCGGACTGAAAATTGATGACTTCGCTCCTCGCCTGTCGTTCTTCTTCGGCATCGGCATGGATCTGTTTATGAACGTCGCCATGTTGCGTGCGGCACGTTATTTATGGAGCGAAGCGGTCAGTGGATTTGGCGCACAGGACCCGAAATCACTGGCGCTGCGTACCCACTGCCAGACCTCAGGCTGGAGCCTGACTGAACAGGATCCGTATAACAACGTTATCCGCACCACCATTGAAGCGCTGGCTGCGACGCTGGGCGGTACTCAGTCACTGCATACCAACGCCTTTGACGAAGCGCTTGGTTTGCCTACCGATTTCTCAGCACGCATTGCCCGCAACACCCAGATCAT  >  CP009273/3054848‑3055341

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 10 ≤ ATCG/ATCG < 21 ≤ ATCG/ATCG < 34 ≤ ATCG/ATCG < 38 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: