Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_002947 4,588,160 G→A 7.1% A9T (GCC→ACC)  ivd → isovaleryl‑CoA dehydrogenase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_0029474,588,1600GA 7.1% 164.9 / 2.1 56A9T (GCC→ACC) ivdisovaleryl‑CoA dehydrogenase
Reads supporting (aligned to +/- strand):  ref base G (27/25);  new base A (2/2);  total (29/27)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.76e-01

ATCAGGTAATGACGGTGACCCTGCTGACGTATTCGCGGGCATGCCCGCTCCCACAGGGGGCGGGGCCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGACAACCTGTTCCCCGCCGACATGTGGCGCAAGTTCGGTGACATGGGCCTGCTGGGCAT  >  NC_002947/4588017‑4588308
                                                                                                                                               |                                                                                                                                                    
aTCAGGTAATGACGGTGACCCTGCTGACGTATGCGCGGGCATGCCCGCTCCCACAGGGGGCGGGGCCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTg                                                                                                                                                 <  5:219567/149‑1 (MQ=255)
     gTAATGACGGTGACCCTGCTGACGTATTCGCGGGCATGCCCGCTCCCACAGGGGGCGGGGCCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCga                                                                                                                                            <  2:22996/149‑1 (MQ=255)
        aTGACGGTGACCCTGCTGACGTATTCGCGGGCATGCCCGCTCCCACAGGGGGCGGGGCCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCgaga                                                                                                                                          >  8:85854/1‑148 (MQ=255)
        aTGACGGTGACCCTGCTGACGTATTCGCGGGCATGCCCGCTCCCACAGGGGGCGGGGCCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCgaga                                                                                                                                          <  7:85854/148‑1 (MQ=255)
         tGACGGTGACCCTGCTGACGTATTCGCGGGCATGCCCGCTCCCACAGGGGGCGGGGCCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCAGGGCgaagtt                                                                                                                                        <  7:47685/149‑5 (MQ=255)
            cGGTGACCCTGCTGACGTATTCGCGGGCATGCCCGCTCCCACAGGGGGCGGGGCCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATc                                                                                                                                     <  7:86091/149‑1 (MQ=255)
               tGACCCTGCTGACGTATTCGCGGGCATGCCCGCTCCCACAGGGGGCGGGGCCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGa                                                                                                                                   >  3:67628/1‑148 (MQ=255)
                   ccTGCTGACGTATTCGCGGGCATGCCCGCTCCCACAGGGGGCGGGGCCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCACCCTGGGCGAGACCATCGACATGc                                                                                                                              >  5:172723/1‑149 (MQ=255)
                   ccTGCTGACGTATTCGCGGGCATGCCCGCTCCCACAGGGGGCGGGGCCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCACCCTGGGCGAGACCATCGACATGc                                                                                                                              >  7:100504/1‑149 (MQ=255)
                                  gcgGGCATGCCCGCTCCCACAGGGGGCGGGGCCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCACCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTgc                                                                                                               <  6:172723/149‑1 (MQ=255)
                                  gcgGGCATGCCCGCTCCCACAGGGGGCGGGGCCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCACCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTgc                                                                                                               <  8:100504/149‑1 (MQ=255)
                                       cATGCCCGCTCCCACAGGGGGCGGGGCCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCAcc                                                                                                          >  7:253039/1‑149 (MQ=255)
                                          gCCCGCTCCCACAGGGGGCGGGGCCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTtc                                                                                                       >  3:38988/1‑149 (MQ=255)
                                          gCCCGCTCCCACAGGGGGCGGGGCCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTtc                                                                                                       >  7:88990/1‑149 (MQ=255)
                                            ccGCTCCCCCAGGGGGCGGGGCCGGAACCCAAGCTATGGTGTACCCCAAGTTCAAGAACCAGCAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTtcgt                                                                                                     >  7:32210/1‑149 (MQ=255)
                                                  ccACAGGGGGCGGGGCCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTtc                                                                                                       <  2:145571/141‑1 (MQ=255)
                                                  ccACAGGGGGCGGGGCCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTtc                                                                                                       >  1:145571/1‑141 (MQ=255)
                                                  ccACAGGGGGCGGGGCCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTcgccgc                                                                                               >  7:101476/1‑149 (MQ=255)
                                                  ccACAGGGGGCGGGGCCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTcgccgc                                                                                               >  2:9489/1‑149 (MQ=255)
                                                    acaGGGGGCGGGGCCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCGTCCCTGAACTTCGCCCTGGGCGAGACCATCGCCATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTg                                                                                             >  2:202281/1‑149 (MQ=255)
                                                         gggcggggcCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTg                                                                                        <  4:45635/149‑1 (MQ=255)
                                                                 ccGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGcccttgg                                                                                <  3:192431/149‑5 (MQ=255)
                                                                        ccAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCACCGCTGAACTGGCCCCAAGGGCcgcg                                                                         <  1:9489/149‑1 (MQ=255)
                                                                         cAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCcgcg                                                                         >  2:144349/1‑148 (MQ=255)
                                                                         cAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCcgcg                                                                         >  8:31826/1‑148 (MQ=255)
                                                                         cAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATACTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCcgcg                                                                         >  3:253135/1‑148 (MQ=255)
                                                                          aaGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCa                                                                       <  4:67628/149‑1 (MQ=255)
                                                                            gCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGa                                                                     <  8:88990/149‑1 (MQ=255)
                                                                            gCTATGGTCTAACCCAATTTCAACAACAAGAAGGTTCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGa                                                                     <  8:101476/149‑1 (MQ=255)
                                                                               aTGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATc                                                                   <  6:209014/148‑1 (MQ=255)
                                                                               aTGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATc                                                                   >  5:209014/1‑148 (MQ=255)
                                                                                   tgtAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCa                                                              >  4:70984/1‑149 (MQ=255)
                                                                                    gtAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTtcg                                                                                                      >  4:30510/1‑108 (MQ=255)
                                                                                    gtAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTtcg                                                                                                      <  3:30510/108‑1 (MQ=255)
                                                                                     tAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACg                                                            >  3:307331/1‑149 (MQ=255)
                                                                                       aCCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGa                                                           >  4:136166/1‑148 (MQ=255)
                                                                                         ccAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGACaa                                                        >  2:231097/1‑149 (MQ=255)
                                                                                          cAATTGCAAGAACACGAAGGTGCCCCAGCATGCATTACCCCTCCCGGACCTTCGCCCTGGGCGAGACCATCGCCATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGCACTGGCCCCACGGGCCGCGCAGAGCGACCACGACAAc                                                       <  8:32210/149‑1 (MQ=255)
                                                                                                 aagaacaagaaGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGACAACCTGttac                                                >  2:313386/1‑147 (MQ=255)
                                                                                                 aagaacaagaaGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGACAACCTGTTc                                                 <  1:186441/148‑1 (MQ=255)
                                                                                                  agaacaagaaGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGACAACCTGTTccc                                               <  4:38988/149‑1 (MQ=255)
                                                                                                     acaagaaGGTGCCCCAGCATGCATTACACCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGACAACCTGTTCCccgc                                            >  1:182967/1‑149 (MQ=255)
                                                                                                        agaagGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGACAACCTGTTCCCCGCCGa                                         <  2:184823/149‑1 (MQ=255)
                                                                                                          aagGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGACAACCTGTTCCCCGCCGACa                                       >  6:72686/1‑149 (MQ=255)
                                                                                                             gTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGACAACCTGTTCCCCGCCGACAtgt                                    <  7:31826/149‑1 (MQ=255)
                                                                                                                ccacAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCTAGACCATCGAAATGCTCCGCGACCATGTGCGCACCTTCTACGCCCCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGACAACAAGTTCCCCGCCGACATGTGgc                                 >  7:268424/4‑149 (MQ=255)
                                                                                                                    aggattcatTACCCCTCCCTGAACTTCGCCCTTGGCGAGACCATCGACATGCTCCGCGACCATGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCATATCGACCACGACTACCTGTTCCCTGCCGACATGTGGCGCaa                             <  8:268424/143‑1 (MQ=255)
                                                                                                                         gcatTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGACAACCTGTTCCCCGCCGACATGTgg                                  <  3:183190/139‑1 (MQ=255)
                                                                                                                         gcatTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGACAACCTGTTCCCCGCCGACATGTgg                                  >  4:183190/1‑139 (MQ=255)
                                                                                                                          catTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGACAACCTGTTCCCCGCCGACATGTGGCGCAAGTTCg                        <  1:227281/148‑1 (MQ=255)
                                                                                                                           atTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGACAACCTGTTCCCCGCCGACATGTGGCGCAAGTTCGGt                      <  8:253039/149‑1 (MQ=255)
                                                                                                                                 cctccctGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGAACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGCCAACCTGTTCCCCGACGACAGGTGGCGCAAGTTAGGTGACATg                >  7:65698/1‑149 (MQ=255)
                                                                                                                                      ctGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGACAACCTGTTCTCCGCCGACATGTGGCGCAAGTTCGGTGACATGGGCct           >  8:282313/1‑149 (MQ=255)
                                                                                                                                        gAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGACAACCTGTTCCCCGCCGACATGTGGCGCAAGt                           <  5:154569/131‑1 (MQ=255)
                                                                                                                                        gAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGACAACCTGTTCCCCGCCGACATGTGGCGCAAGt                           >  6:154569/1‑131 (MQ=255)
                                                                                                                                              cGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGACAACCTGTTCCCCGCCGACATGTGGCGCAAGTTCGGTGACATGGGCCTGCTGGGc    <  1:231097/148‑1 (MQ=255)
                                                                                                                                               gCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGACAACCTGTTCCCCGCCGACATGTGGCGCAAGTTCGGTGACATGGGCCTGCTGGGCAt  >  2:75348/1‑149 (MQ=255)
                                                                                                                                               |                                                                                                                                                    
ATCAGGTAATGACGGTGACCCTGCTGACGTATTCGCGGGCATGCCCGCTCCCACAGGGGGCGGGGCCGGATCCCAAGCTATGGTGTAACCCAATTTCAAGAACAAGAAGGTGCCCCAGCATGCATTACCCCTCCCTGAACTTCGCCCTGGGCGAGACCATCGACATGCTCCGCGACCAGGTGCGCACCTTCGTCGCCGCTGAACTGGCCCCAAGGGCCGCGCAGATCGACCACGACAACCTGTTCCCCGCCGACATGTGGCGCAAGTTCGGTGACATGGGCCTGCTGGGCAT  >  NC_002947/4588017‑4588308

Alignment Legend
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: ‑