Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_002947 3,844,912 G→T 7.7% P241Q (CCG→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_0029473,844,9120GT 7.7% 163.3 / 3.6 52P241Q (CCG→CAG) PP_33943‑hydroxy‑3‑methylglutaryl‑CoA lyase
Reads supporting (aligned to +/- strand):  ref base G (22/26);  new base T (2/2);  total (24/28)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.91e-01

GTAAAGTGGCTCGCCCGGTAGCGCTTCGCTTAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTG  >  NC_002947/3844764‑3845057
                                                                                                                                                     |                                                                                                                                                  
gTAAAGTGGCTCGCCCGGTAGCGCTTCGCTTAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACg                                                                                                                                                    >  6:176435/1‑149 (MQ=255)
   aaGTGGCTCGCCCGGTAGCGCTTCGCTTAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGc                                                                                                                                                 <  5:176435/149‑1 (MQ=255)
        gCTCGCCCGGTAGCGCTTCGCTTAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCt                                                                                                                                            >  6:185038/1‑149 (MQ=255)
         cTCGCCCGGTAGCGCTTCGCTTAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTc                                                                                                                                           <  2:200266/149‑1 (MQ=255)
            gCCCGGTAGCGCTTCGCTTAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTccc                                                                                                                                         <  5:269866/148‑1 (MQ=255)
              ccGGTAGCGCTTCGCTTAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAgg                                                                                                                                      <  7:339831/149‑1 (MQ=255)
                               aGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCTGGCGGGCCTGGGAGGct                                                                                                                       <  6:324093/147‑2 (MQ=255)
                                gTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATc                                                                                                                     >  5:363950/1‑148 (MQ=255)
                                          ggTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCaa                                                                                                          <  5:185038/149‑1 (MQ=255)
                                           gTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAAt                                                                                                         <  4:103264/149‑1 (MQ=255)
                                            tttCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGTAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATg                                                                                                        <  1:155764/149‑1 (MQ=255)
                                            tttCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATg                                                                                                        >  8:301742/1‑149 (MQ=255)
                                                 aTTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCctg                                                                                                   >  3:24259/1‑149 (MQ=255)
                                                   tAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACTGGATGCCTCCCTGGCGGGCCTGGGAGGCTGCCCGTTcgcc                                                                                                            <  6:181666/138‑1 (MQ=25)
                                                   tAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACTGGATGCCTCCCTGGCGGGCCTGGGAGGCTGCCCGTTcgcc                                                                                                            <  6:187035/138‑1 (MQ=25)
                                                   tAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACTGGATGCCTCCCTGGCGGGCCTGGGAGGCTGCCCGTTcgcc                                                                                                            >  5:187035/1‑138 (MQ=25)
                                                   tAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACTGGATGCCTCCCTGGCGGGCCTGGGAGGCTGCCCGTTcgcc                                                                                                            >  5:181666/1‑138 (MQ=25)
                                                    aGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCctgct                                                                                                 <  5:233945/148‑1 (MQ=255)
                                                     gcgcAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCAGTGAACACCAGGTCCTCGGTCACGGAATTACCAGACCCGCCAGGGCCGAACGGGCAGCCTCCCAGCCCCGCCAGGCAg                                                                                                                          >  1:269367/1‑123 (MQ=255)
                                                     gcgcAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAg                                                                                                                          <  2:269367/122‑1 (MQ=255)
                                                     gcgcAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCtgctgc                                                                                               >  3:347303/1‑149 (MQ=255)
                                                        cAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCAcc                                                                                            <  4:347303/149‑1 (MQ=255)
                                                           gCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTccc                                                                                                             <  1:57102/129‑1 (MQ=255)
                                                           gCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTccc                                                                                                             >  2:57102/1‑129 (MQ=255)
                                                             aaGTCGATGCCGGTGTCGTAGCCGAGGCTTGGCAGCATGAACACCAGGTCCTGGGGCACGGTATTACCAGACGCGCCAGGGGCTAACGGGCAGCCTCCGAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGccac                                                                                       <  3:69078/149‑1 (MQ=255)
                                                             aaGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGccac                                                                                       >  8:41679/1‑149 (MQ=255)
                                                                        ggTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCa                                                                                                                   <  1:271566/110‑1 (MQ=255)
                                                                        ggTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCa                                                                                                                   >  2:271566/1‑110 (MQ=255)
                                                                          tgtCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGcc                                                                          <  6:344460/149‑1 (MQ=255)
                                                                            tCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCaa                                                                        <  6:363950/149‑1 (MQ=255)
                                                                                  cccATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAaggccag                                                                 >  1:110148/1‑149 (MQ=255)
                                                                                   ccATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAaggccagg                                                                >  2:167848/1‑149 (MQ=255)
                                                                                    cATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGcc                                                                                                                                <  8:275972/85‑1 (MQ=255)
                                                                                    cATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGcc                                                                                                                                >  7:275972/1‑85 (MQ=255)
                                                                                       gCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGcccc                                                            >  2:361874/1‑149 (MQ=255)
                                                                                         tttGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCgg                                                          >  4:320579/1‑149 (MQ=255)
                                                                                         tttGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACCCGCCAGGGGCGAACGGGCAGCCTCCCAGCCCCGCCAGGGAGGCATCCAGTACCCCAATCCCCTGCTGCACCGCCACCAGGCTGTTGCCCAAGGCCAGGCCCCgg                                                          >  4:282463/1‑149 (MQ=255)
                                                                                           tGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCgg                                                          <  3:320579/147‑1 (MQ=255)
                                                                                               gcaTGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCa                                                    <  1:167848/149‑1 (MQ=255)
                                                                                                   tGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCg                                                           >  5:127780/1‑139 (MQ=255)
                                                                                                   tGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCg                                                           <  6:127780/139‑1 (MQ=255)
                                                                                                     aaCACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCgg                                                          >  3:249873/1‑138 (MQ=255)
                                                                                                     aaCACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCgg                                                          <  4:249873/138‑1 (MQ=255)
                                                                                                               ccTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGcc                                     >  6:261638/1‑149 (MQ=255)
                                                                                                                 tCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCtt                                   >  1:59237/1‑149 (MQ=255)
                                                                                                                 tCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCtt                                   >  7:169095/1‑149 (MQ=255)
                                                                                                                   ggTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTg                                  <  7:301742/148‑1 (MQ=255)
                                                                                                                          gTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTc                          <  7:41679/149‑1 (MQ=255)
                                                                                                                                           aGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTga                                 <  2:20847/125‑1 (MQ=255)
                                                                                                                                             gggCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACg       >  3:82414/1‑149 (MQ=255)
                                                                                                                                                  aaCGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTg  <  8:169095/149‑1 (MQ=255)
                                                                                                                                                   aCGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCATGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGAc                              <  1:61550/121‑1 (MQ=255)
                                                                                                                                                   aCGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGAc                              >  2:61550/1‑120 (MQ=255)
                                                                                                                                                     |                                                                                                                                                  
GTAAAGTGGCTCGCCCGGTAGCGCTTCGCTTAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTG  >  NC_002947/3844764‑3845057

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: