Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_002947 4,941,244 G→A 7.2% T217T (ACG→ACA)  PP_4348 → cystathionine beta‑lyase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_0029474,941,2440GA 7.2% 152.4 / 3.3 56T217T (ACG→ACA) PP_4348cystathionine beta‑lyase
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 = 4.95e-01

ATTTCACCACCCCTTATCACTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGCCTCTTTTAAAACAGGCAATACATC  >  NC_002947/4941097‑4941389
                                                                                                                                                   |                                                                                                                                                 
aTTTCACCACCCCTTATCACTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACggg                                                                                                                                                 <  1:1396026/150‑1 (MQ=255)
      ccaccCCTTATCACTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAAc                                                                                                                                             <  2:821624/148‑1 (MQ=255)
      ccaccCCTTATCACTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAAc                                                                                                                                             >  1:821624/1‑148 (MQ=255)
      ccaccCCTTATCACTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCa                                                                                                                                           >  1:538614/1‑150 (MQ=255)
      ccaccCCTTATCACTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCa                                                                                                                                           >  1:1234552/1‑150 (MQ=255)
       ctcgctttATCACTCGGCGCGGACATCAGCTTGATTTCAATTAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCAt                                                                                                                                          >  2:409373/7‑150 (MQ=255)
         ccccTTATCACTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCAtgt                                                                                                                                        <  1:92587/150‑1 (MQ=255)
         ccccTTATCACTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCAtgt                                                                                                                                        <  2:10787/150‑1 (MQ=255)
                  aCTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACg                                                                                                                                                   <  2:672389/130‑1 (MQ=255)
                  aCTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACg                                                                                                                                                   >  1:672389/1‑130 (MQ=255)
                   cTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCacac                                                                                                                              <  2:627081/150‑1 (MQ=255)
                                   gCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCaa                                                                                                              >  2:1023364/1‑150 (MQ=255)
                                     ttGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCGGCAGCAAtt                                                                                                            >  1:1071429/1‑150 (MQ=255)
                                         tttCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGat                                                                                                        <  2:538614/150‑1 (MQ=255)
                                             aaTGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGatcaat                                                                                                    >  2:700284/1‑150 (MQ=255)
                                             aaTGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGatcaat                                                                                                    >  2:46897/1‑150 (MQ=255)
                                                     aaTACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGc                                                                                            >  1:963377/1‑150 (MQ=255)
                                                     aaTACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGc                                                                                            <  1:409373/150‑1 (MQ=255)
                                                          cACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCg                                                                                         <  2:1294076/148‑1 (MQ=255)
                                                          cACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCg                                                                                         >  1:1294076/1‑148 (MQ=255)
                                                          cACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGgc                                                                                       >  2:9339/1‑150 (MQ=255)
                                                                         ggCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCAtt                                                                         >  2:1314879/1‑149 (MQ=255)
                                                                         ggCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCAtt                                                                         <  1:1314879/149‑1 (MQ=255)
                                                                           cATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTc                                                                                                           <  1:505939/113‑1 (MQ=255)
                                                                           cATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTc                                                                                                           >  2:505939/1‑113 (MQ=255)
                                                                             tctctctcGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCaaa                                                                    <  1:46897/150‑1 (MQ=255)
                                                                             tctctctcGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCaaa                                                                    <  1:700284/150‑1 (MQ=255)
                                                                                ctctcGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGa                                                                 <  2:1234552/150‑1 (MQ=255)
                                                                                ctctcGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGa                                                                 <  2:963377/150‑1 (MQ=255)
                                                                                   tcGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCacac                                                                                                                              >  1:1409915/1‑86 (MQ=255)
                                                                                   tcGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCacac                                                                                                                              <  2:1409915/86‑1 (MQ=255)
                                                                                      gAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTc                                                                       <  1:158037/138‑1 (MQ=255)
                                                                                      gAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTc                                                                       >  2:158037/1‑138 (MQ=255)
                                                                                              ataaCCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGc                                                                                                                            <  2:1045309/77‑1 (MQ=255)
                                                                                              ataaCCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGc                                                                                                                            >  1:1045309/1‑77 (MQ=255)
                                                                                              ataaCCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCaaa                                                                    >  2:674344/1‑133 (MQ=255)
                                                                                              ataaCCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCaaa                                                                    <  1:674344/133‑1 (MQ=255)
                                                                                                  ccAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGc                                                                                                                                    <  1:1575181/65‑1 (MQ=255)
                                                                                                  ccAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGc                                                                                                                                    >  2:1575181/1‑65 (MQ=255)
                                                                                                    aaGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACtt                                             >  1:644772/1‑150 (MQ=255)
                                                                                                        gAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGCGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGaa                                         >  2:374922/1‑150 (MQ=255)
                                                                                                        gAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGaa                                         <  1:1023364/150‑1 (MQ=255)
                                                                                                               tCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCaa                                  <  1:9339/150‑1 (MQ=255)
                                                                                                                  gtatgtaAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGat                                                                                                        <  2:1435910/77‑1 (MQ=255)
                                                                                                                  gtatgtaAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGat                                                                                                        >  1:1435910/1‑77 (MQ=255)
                                                                                                                        aaaCCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGcc                         >  2:1149346/1‑150 (MQ=255)
                                                                                                                          aCCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGCctc                       <  1:1149346/150‑1 (MQ=255)
                                                                                                                            cTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTc                                    >  2:1260483/1‑135 (MQ=255)
                                                                                                                            cTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTc                                    <  1:1260483/135‑1 (MQ=255)
                                                                                                                             ttAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGCCTCttt                    >  2:1308347/1‑150 (MQ=255)
                                                                                                                                aaaCCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGc                                                                                                >  2:1064726/1‑71 (MQ=255)
                                                                                                                                aaaCCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGc                                                                                                <  1:1064726/71‑1 (MQ=255)
                                                                                                                                 aaCCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGCCTCTTTTaaa                >  1:947974/1‑150 (MQ=255)
                                                                                                                                            cATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGCCTCTTTTAAACCAGGCAATAc     >  2:133012/1‑150 (MQ=255)
                                                                                                                                             aTTAACAGGCAACCATGTGAGGTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGc                          <  1:311674/128‑1 (MQ=255)
                                                                                                                                             aTTAACAGGCAACCATGTGAGGTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGc                          >  2:311674/1‑128 (MQ=255)
                                                                                                                                             aTTAACAGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGc                          <  1:311690/128‑1 (MQ=255)
                                                                                                                                             aTTAACAGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGc                          >  2:311690/1‑128 (MQ=255)
                                                                                                                                               tAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGCCTCTTTTAAAACAGGCAATACATc  <  2:644772/150‑1 (MQ=255)
                                                                                                                                                   |                                                                                                                                                 
ATTTCACCACCCCTTATCACTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGCCTCTTTTAAAACAGGCAATACATC  >  NC_002947/4941097‑4941389

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑