Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_002947 3,844,933 A→T 8.3% L234Q (CTG→CAG)  PP_3394 ← 3‑hydroxy‑3‑methylglutaryl‑CoA lyase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_0029473,844,9330AT 8.3% 141.1 / 3.3 48L234Q (CTG→CAG) PP_33943‑hydroxy‑3‑methylglutaryl‑CoA lyase
Reads supporting (aligned to +/- strand):  ref base A (22/22);  new base T (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 = 9.41e-01

GCTTAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCATTGCCACCTGGCCCG  >  NC_002947/3844791‑3845080
                                                                                                                                              |                                                                                                                                                   
gcttAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAg                                                                                                                                                <  5:110976/148‑1 (MQ=255)
     gTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATcc                                                                                                                                          <  1:167643/149‑1 (MQ=255)
      tACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCa                                                                                                                                         <  5:147548/149‑1 (MQ=255)
              gggTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTcccc                                                                                                                                  >  7:310782/1‑148 (MQ=255)
                gTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCatg                                                                                                                               >  2:209925/1‑147 (MQ=255)
                 tttCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATg                                                                                                                              >  5:95252/1‑149 (MQ=255)
                          gcgcAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCctgctg                                                                                                                      >  2:282434/1‑148 (MQ=255)
                                  aaGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGccac                                                                                                             <  6:95252/149‑1 (MQ=255)
                                                 tCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCaa                                                                                              <  8:310782/149‑1 (MQ=255)
                                                   gTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAagg                                                                                            >  1:299505/1‑149 (MQ=255)
                                                     aGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGtt                                                                                                    <  6:177034/139‑1 (MQ=255)
                                                     aGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGtt                                                                                                    >  5:177034/1‑139 (MQ=255)
                                                      gCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAaggcca                                                                                         <  3:143679/149‑1 (MQ=255)
                                                         cATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACAGGCTGTTGGCCAaggccaggcc                                                                                     >  5:95384/1‑149 (MQ=255)
                                                             ctgcaaagcaTGGACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGcccc                                                                                   <  4:235856/142‑1 (MQ=255)
                                                               ttGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCggg                                                                                >  5:230528/1‑149 (MQ=255)
                                                                 gcagcaTGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAgg                                                                                                         >  8:26102/1‑122 (MQ=255)
                                                                 gcagcaTGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAgg                                                                                                         <  7:26102/122‑1 (MQ=255)
                                                                 ccagcaTGAACACCAGGACCTCGGTCACGGTATTACCAGACGCGACAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGATCCCCAATGCCCTGCTGCACCGCCACAAGACTGTTGGCCAAGTCAAGGcccccgc                                                                                >  8:302373/2‑144 (MQ=255)
                                                                  cagcaTGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGgtgt                                                                             >  8:282046/1‑149 (MQ=255)
                                                                         aaCACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGaa                                                                      <  6:230528/149‑1 (MQ=255)
                                                                         aaCACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGaa                                                                      <  2:75966/149‑1 (MQ=255)
                                                                         aaCACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCACCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGaa                                                                      <  1:282434/149‑1 (MQ=255)
                                                                          acacCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAg                                                                     <  2:299505/149‑1 (MQ=255)
                                                                           cacCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGt                                                                    <  2:295493/149‑1 (MQ=255)
                                                                           cacCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGt                                                                    >  4:276183/1‑149 (MQ=255)
                                                                           cacCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGCAAg                                                                     >  1:295493/1‑148 (MQ=255)
                                                                                   ccTCGGTCACGGTATTACCAGACGAGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGcc                                                            >  5:271492/1‑149 (MQ=255)
                                                                                       ggTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTg                                                         <  6:87079/148‑1 (MQ=255)
                                                                                         tCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTgaga                                                      >  1:308431/1‑149 (MQ=255)
                                                                                           aCGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACg                                                    >  4:333725/1‑149 (MQ=255)
                                                                                                   aCCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCt                                             <  7:282046/148‑1 (MQ=255)
                                                                                                    ccAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGc                                           <  3:305796/149‑1 (MQ=255)
                                                                                                            gcCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTccc                                   >  3:36280/1‑149 (MQ=255)
                                                                                                                        cGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAg                      <  6:95384/149‑1 (MQ=255)
                                                                                                                          ggCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGc                     <  6:271492/149‑1 (MQ=255)
                                                                                                                           gatgCCTCCCTGGCGGGCCTGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCa                    >  4:241385/4‑149 (MQ=255)
                                                                                                                           gCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCa                    >  4:73308/1‑149 (MQ=255)
                                                                                                                             aGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCAc                   >  8:163090/1‑148 (MQ=255)
                                                                                                                                cTCCCTGGCGGGCCTGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCtt                                                          >  7:295086/1‑106 (MQ=255)
                                                                                                                                cTCCCTGGCGGGCCTGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCtt                                                          <  8:295086/106‑1 (MQ=255)
                                                                                                                                cTCCCTGGCGGGCCTGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCAtt               <  3:241385/149‑1 (MQ=255)
                                                                                                                                cTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCAtt               <  3:276183/149‑1 (MQ=255)
                                                                                                                                 tCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAACCCCCATTg              >  8:220401/1‑149 (MQ=255)
                                                                                                                                   ccAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCCTTGc             >  4:261534/1‑148 (MQ=255)
                                                                                                                                      ggCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCATTGCCAcc         <  4:36280/149‑1 (MQ=255)
                                                                                                                                         ccGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCATTGCCACCTgg      >  8:152568/1‑149 (MQ=255)
                                                                                                                                          cGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCATTGCCACCTGGc     <  7:152568/149‑1 (MQ=255)
                                                                                                                                              aGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCATTGCCACCCGGCCCg  >  4:278339/1‑148 (MQ=255)
                                                                                                                                              |                                                                                                                                                   
GCTTAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCATTGCCACCTGGCCCG  >  NC_002947/3844791‑3845080

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: