Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,781,158 G→C 7.5% G711G (GGG→GGC metH → homocysteine‑N5‑methyltetrahydrofolate transmethylase, B12‑dependent

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,781,1580GC 7.5% 169.6 / 4.2 53G711G (GGG→GGCmetHhomocysteine‑N5‑methyltetrahydrofolate transmethylase, B12‑dependent
Reads supporting (aligned to +/- strand):  ref base G (21/28);  new base C (2/2);  total (23/30)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.73e-01

GCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAACAGGCGGTGGCCTACCTCGAACCGT  >  Exported/2781088‑2781228
                                                                      |                                                                      
gcCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAggg                                                                        <  1:2483070/71‑1 (MQ=255)
  ccGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGaa                                                                      <  1:1603137/71‑1 (MQ=255)
    gATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGaaaa                                                                    >  1:3321140/1‑71 (MQ=255)
     aTTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGaaaa                                                                    >  1:1372411/1‑70 (MQ=255)
     aTTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAAt                                                                   >  1:2516836/1‑71 (MQ=255)
      ttGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATg                                                                  <  1:2256499/71‑1 (MQ=255)
         aaGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGtt                                                                <  1:2777277/70‑1 (MQ=255)
         aaGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGtt                                                                <  1:2783293/70‑1 (MQ=255)
              atcgAAGGTCCGCTGATGGACGGCATGAACATAGTCGGCGACCTGTTCGGCCAGGGCAAGATGTTCCTGc                                                           >  1:884485/4‑70 (MQ=255)
              aTTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGc                                                           <  1:875379/70‑1 (MQ=255)
               ttGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCca                                                         <  1:1020590/71‑1 (MQ=255)
                  aaGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCcaca                                                       <  1:3406984/70‑1 (MQ=255)
                     gCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAggtg                                                   >  1:1462404/1‑71 (MQ=255)
                         gTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAgg                                                     <  1:1527793/65‑1 (MQ=255)
                         gTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAgg                                                     <  1:952714/65‑1 (MQ=255)
                            gATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCgaa                                             <  1:1490680/70‑1 (MQ=255)
                            gATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCaaa                                             <  1:466091/70‑1 (MQ=255)
                            gATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAAt                                            >  1:2337072/1‑71 (MQ=255)
                             aTGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAAt                                            <  1:1896038/70‑1 (MQ=255)
                             aTGGACGGCATGAACATCGTCGGCGACCTGTTCGGCCAGGGCAAGATGTTCCTGCCGCAGGTGGTCAAGTc                                           >  1:3052628/1‑71 (MQ=255)
                              tGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCg                                          <  1:1788755/71‑1 (MQ=255)
                              tGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCg                                          <  1:1894212/71‑1 (MQ=255)
                                gACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCgg                                         >  1:812178/1‑70 (MQ=255)
                                    gCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGgcgcgc                                    <  1:826985/71‑1 (MQ=255)
                                    gCATGAACATCGTCGGCGACCTGTTCGGCCAGGGCAAGATGTTCCTGCCGCAGGTGGTCAAGTCGgcgcgc                                    <  1:1034951/71‑1 (MQ=255)
                                    gCATGAACATCGTCGGCGACCTGTTCGGCCAGGGCAAGATGTTCCTGCCGCAGGTGGTCAAGTCGgcgcgc                                    <  1:1740951/71‑1 (MQ=255)
                                           tgtgGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAgg                                                     <  1:2642609/47‑1 (MQ=255)
                                           tgtgGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGa                             <  1:1450233/71‑1 (MQ=255)
                                           tgtgGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGa                             <  1:1900722/71‑1 (MQ=255)
                                           tgtgGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTC‑‑‑CCACAGGTGGTCAAATCGGCGCGCGTCATGaaa                           <  1:1843971/70‑1 (MQ=255)
                                             tgGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGaaa                           <  1:1982279/71‑1 (MQ=255)
                                                  ggCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAgg                                                     >  1:2538665/1‑40 (MQ=255)
                                                  ggCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAACAGGc                      <  1:3303601/71‑1 (MQ=255)
                                                   gCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAAt                                            >  1:1767415/1‑48 (MQ=255)
                                                   gCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAAt                                            >  1:3273683/1‑48 (MQ=255)
                                                     gACCTGTTTGGCGAAGTGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGa                             <  1:2693425/61‑1 (MQ=255)
                                                     gACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAACAGGCGGt                   <  1:2160797/71‑1 (MQ=255)
                                                          gTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAACAGGCGGTg                  <  1:271049/67‑1 (MQ=255)
                                                           tttGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCaaa                                             >  1:612072/1‑39 (MQ=255)
                                                           tttGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCaaa                                             >  1:547654/1‑39 (MQ=255)
                                                           tttGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCaaa                                             >  1:1837275/1‑39 (MQ=255)
                                                            ttGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCAAGAAACAGGCGGTGGCCTAc            >  1:2891284/1‑71 (MQ=255)
                                                             tGGCGAATGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAACAGGCGGTGGCCTAc            <  1:775866/70‑1 (MQ=255)
                                                             tGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGaaa                           >  1:2994018/1‑55 (MQ=255)
                                                             tGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGaaa                           >  1:943210/1‑55 (MQ=255)
                                                                cGAAGTGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAACAGGCGGTGGCCTACCTCg        <  1:2847396/71‑1 (MQ=255)
                                                                cGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAACAGGCGGTGGCCTACCTCg        <  1:1931568/71‑1 (MQ=255)
                                                                cGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAACAGGCGGTGGCCTACCTCg        <  1:1118593/71‑1 (MQ=255)
                                                                   aGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGaaa                           >  1:3281731/1‑49 (MQ=255)
                                                                   aGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGaaa                           >  1:3260699/1‑49 (MQ=255)
                                                                   aGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGaaa                           >  1:673571/1‑49 (MQ=255)
                                                                   aGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGaaa                           >  1:1794345/1‑49 (MQ=255)
                                                                   aGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAAc                          >  1:2242176/1‑50 (MQ=255)
                                                                   aGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAACAGGCGGTGGCCTACCTCGAAc     >  1:3380202/1‑71 (MQ=255)
                                                                    gggAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAACAGGCGGTGGCCTACCTCGAAcc    >  1:3420252/1‑71 (MQ=255)
                                                                      gAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAACAGGCGGTGGCCTACCTCGAACCGt  >  1:483864/1‑71 (MQ=255)
                                                                      |                                                                      
GCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAACAGGCGGTGGCCTACCTCGAACCGT  >  Exported/2781088‑2781228

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 21 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: