Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 126,351 G→A 6.1% E61K (GAA→AAA)  hpt → hypoxanthine phosphoribosyltransferase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported126,3510GA 6.1% 266.4 / 4.8 82E61K (GAA→AAA) hpthypoxanthine phosphoribosyltransferase
Reads supporting (aligned to +/- strand):  ref base G (41/36);  new base A (3/2);  total (44/38)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

CTGGTGGGTCTGCTGCGTGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTCCACCACCCGTGATGTGAAAATCCTC  >  Exported/126282‑126419
                                                                     |                                                                    
cTGGTGGGTCTGCTGCGTGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATg                                                                      <  1:2132096/70‑1 (MQ=255)
cTGGTGGGTCTGCTGCGTGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGa                                                                     <  1:912421/71‑1 (MQ=255)
    tggGTCTGCTGCGTGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTc                                                                 <  1:1129488/71‑1 (MQ=255)
      ggTCTGCTGCGTGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCg                                                                <  1:2358855/70‑1 (MQ=255)
       gTCTGCTGCGTGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGAc                                                              <  1:1908948/71‑1 (MQ=255)
        tCTGCTGCGTGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACt                                                             <  1:406225/71‑1 (MQ=255)
          tgctgcGTGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGt                                                                  >  1:1568014/1‑64 (MQ=255)
          tgctgcGTGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACtt                                                            >  1:1207537/1‑70 (MQ=255)
          tgctgcGTGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATAAAGTCGACtt                                                            >  1:3032606/1‑70 (MQ=255)
          tgctgcGTGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATAAAGTCGACtt                                                            >  1:734753/1‑70 (MQ=255)
          tgctgcGTGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATAAAGTAGACt                                                             >  1:2062428/1‑69 (MQ=255)
            ctgcGTGGCTCATTTATGTTTATGGCTGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTa                                                          <  1:3640048/70‑1 (MQ=255)
            ctgcGTGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTa                                                          <  1:3556910/70‑1 (MQ=255)
            ctgcGTGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTAt                                                         <  1:2290201/71‑1 (MQ=255)
            ctgcGTGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATAAAGTCGACTTCAt                                                         <  1:2273945/71‑1 (MQ=255)
              gcGTGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATg                                                        >  1:2960046/1‑70 (MQ=255)
              gcGTGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGa                                                       >  1:2924889/1‑71 (MQ=255)
              gcGTGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGa                                                       >  1:1392992/1‑71 (MQ=255)
               cGTGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGa                                                       <  1:3691849/70‑1 (MQ=255)
               cGTGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATAAAGTCGACTTCATg                                                        <  1:3166706/69‑1 (MQ=255)
                 tGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCg                                                    >  1:588734/1‑71 (MQ=255)
                 tGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCg                                                    <  1:282587/71‑1 (MQ=255)
                   gCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGcc                                                  >  1:1546576/1‑71 (MQ=255)
                   gCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGcc                                                  >  1:1306092/1‑71 (MQ=255)
                    cTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCt                                                 >  1:3654664/1‑71 (MQ=255)
                    cTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCt                                                 >  1:1468717/1‑71 (MQ=255)
                       aTTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTc                                                >  1:3283571/1‑69 (MQ=255)
                       aTTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTc                                                <  1:882752/69‑1 (MQ=255)
                       aTTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTc                                                >  1:1539857/1‑69 (MQ=255)
                         ttatgtttatgGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGa                                                               >  1:569510/1‑52 (MQ=255)
                         ttatgtttatgGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACtt                                                            <  1:2811769/55‑1 (MQ=255)
                            tgtttatgGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTAc                                         >  1:1112265/1‑71 (MQ=255)
                            tgtttatgGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTAc                                         >  1:3519922/1‑71 (MQ=255)
                            tgtttatgGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTAc                                         >  1:3562658/1‑71 (MQ=255)
                            tgtttatgGAGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCCCCTCCAGCTa                                          >  1:2090834/1‑70 (MQ=255)
                                tatgGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACgg                                       >  1:3727678/1‑69 (MQ=255)
                                tatgGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGt                                      <  1:3675182/70‑1 (MQ=255)
                                   ggCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGaa                                                                    >  1:2376022/1‑37 (MQ=255)
                                   ggCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGaa                                                                    >  1:940043/1‑37 (MQ=255)
                                    gCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGGCGACTTTATGa                                                       <  1:1233985/49‑1 (MQ=255)
                                      ggcccTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCa                               >  1:3164981/4‑71 (MQ=255)
                                        aCCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTa                                                          <  1:2276496/42‑1 (MQ=255)
                                        aCCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTa                                                          <  1:1213074/42‑1 (MQ=255)
                                        aCCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTa                                                          <  1:2917159/42‑1 (MQ=255)
                                         ccTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGt                            <  1:782353/71‑1 (MQ=255)
                                         ccTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGt                            <  1:769101/71‑1 (MQ=255)
                                         ccTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGt                            <  1:3256147/71‑1 (MQ=255)
                                          cTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACtt                                                            <  1:1123462/38‑1 (MQ=255)
                                          cTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATg                                                        >  1:2970737/1‑42 (MQ=255)
                                          cTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTc                           <  1:3416246/71‑1 (MQ=255)
                                          cTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTc                           >  1:644002/1‑71 (MQ=255)
                                          cTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTc                           >  1:1873872/1‑71 (MQ=255)
                                          cTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTc                           <  1:3733596/71‑1 (MQ=255)
                                            gtgCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTcca                         >  1:3419295/1‑71 (MQ=255)
                                               ccGTGAAGTTCAGGTATCTCATGAAGTCGACTTTa                                                          >  1:1624990/1‑35 (MQ=255)
                                               ccGTGAAGTTCAGGTATCTCATGAAGTCGACTTTa                                                          >  1:1785354/1‑35 (MQ=255)
                                                  tGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTAc                                         <  1:2146423/49‑1 (MQ=255)
                                                  tGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGt                                      <  1:650067/52‑1 (MQ=255)
                                                  tGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCa                               <  1:3471929/59‑1 (MQ=255)
                                                  tGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTCCACCAccc                   <  1:3335508/71‑1 (MQ=255)
                                                  tGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTCCACCAccc                   >  1:693620/1‑71 (MQ=255)
                                                   gAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGt                                      <  1:222298/51‑1 (MQ=255)
                                                    aaGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTCCACCACCCGt                 >  1:400387/1‑71 (MQ=255)
                                                     aGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTCCACCACCCGTg                <  1:1720468/71‑1 (MQ=255)
                                                     aGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTCCACCACCCGTg                <  1:1778513/71‑1 (MQ=255)
                                                     aGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTCCACCACCCGTg                <  1:1845907/71‑1 (MQ=255)
                                                        tCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTCCACCAccc                   >  1:3093734/1‑65 (MQ=255)
                                                        tCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTCCACCACCCGTGAtg             >  1:3523453/1‑71 (MQ=255)
                                                         cAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGt                                      >  1:698322/1‑45 (MQ=255)
                                                         cAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTc                           >  1:3598215/1‑56 (MQ=255)
                                                         cAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTc                           >  1:1863477/1‑56 (MQ=255)
                                                          aGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTCCACCACCCGTGAtgt            >  1:3511998/1‑70 (MQ=255)
                                                             tATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTCCACCACCCGTGAtg             <  1:1208550/66‑1 (MQ=255)
                                                             tATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTCCACCACCCGTGATGTGaa         >  1:2820175/1‑70 (MQ=255)
                                                              atgtcATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTCCACCACCCGTGATGTGaaaa       >  1:1598328/4‑71 (MQ=255)
                                                               tctcATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTa                                     <  1:514958/40‑1 (MQ=255)
                                                               tctcATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTa                                     <  1:2813261/40‑1 (MQ=255)
                                                               tctcATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTCCACCACCCGTGATGTGaaaa       <  1:3409885/70‑1 (MQ=255)
                                                                ctcATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTCCACCACCCGTGAtg             >  1:2959933/1‑63 (MQ=255)
                                                                ctcATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTCCACCACCCGTGAtg             >  1:77558/1‑63 (MQ=255)
                                                                   aTGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTCCACCACCCGTGATGTGAAAATCCt   >  1:50440/1‑70 (MQ=255)
                                                                   aTGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTCCACCACCCGTGATGTGAAAATCCt   <  1:2515928/70‑1 (MQ=255)
                                                                    tGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTCCACCACCCGTGATGTGAAAATCCTc  >  1:3300881/1‑70 (MQ=255)
                                                                     |                                                                    
CTGGTGGGTCTGCTGCGTGGCTCATTTATGTTTATGGCGGACCTGTGCCGTGAAGTTCAGGTATCTCATGAAGTCGACTTTATGACCGCCTCCAGCTACGGTAGCGGCATGTCCACCACCCGTGATGTGAAAATCCTC  >  Exported/126282‑126419

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