Predicted mutation
evidence seq id position mutation freq annotation gene description
RA minE 2,918,958 T→C 13.5% E246E (GAA→GAG argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*minE2,918,9580TC13.5% 238.7 / 26.5 96E246E (GAA→GAGargIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base T (52/31);  new base C (11/2);  total (63/33)
Fisher's exact test for biased strand distribution p-value = 2.08e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 2.71e-01

TGACCTCCGGGTTACCGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTC  >  minE/2918888‑2919026
                                                                      |                                                                    
tGACCTCCGGGTTACCGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGt                                                                      >  1:912172/1‑71 (MQ=255)
tGACCTCCGGGTTACCGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGt                                                                      >  1:2072884/1‑71 (MQ=255)
tGACCTCCGGGTTACCGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGt                                                                      >  1:3360598/1‑71 (MQ=255)
tGACCTCCGGGTTACCGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGt                                                                      >  1:1108657/1‑71 (MQ=255)
     tCCGGGTTACCGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGc                                                                 >  1:258432/1‑71 (MQ=255)
       cGGGTTGTCGGTCAGCGCCATCATCTGCGCGTTCACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGcc                                                                >  1:2463442/1‑70 (MQ=255)
       cGGGTTACCGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGcc                                                                >  1:863550/1‑70 (MQ=255)
        gggTTACCGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATACGTTCCGCCCa                                                              >  1:76264/1‑71 (MQ=255)
         ggTTACCGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCAt                                                             <  1:795610/71‑1 (MQ=255)
         ggTTACCGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCAt                                                             >  1:420712/1‑71 (MQ=255)
         ggTTACCGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCAt                                                             >  1:1358545/1‑71 (MQ=255)
         ggTTACCGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCAt                                                             <  1:3033334/71‑1 (MQ=255)
              tcGGTCAGCGCCATCATCTGCGCGTTCACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTtctc                                                        >  1:1548306/2‑71 (MQ=255)
              ccGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACTCAGCAATGCAATCCGTTCCGCCCATTtctc                                                        <  1:626537/71‑1 (MQ=255)
               cGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTctct                                                       <  1:2769450/71‑1 (MQ=255)
               cGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTctct                                                       <  1:1661795/71‑1 (MQ=255)
                ggTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCtt                                                      <  1:1544956/71‑1 (MQ=255)
                 gTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCttt                                                     >  1:2494190/1‑71 (MQ=255)
                 gTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCttt                                                     >  1:3363136/1‑71 (MQ=255)
                 gTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCttt                                                     >  1:51271/1‑71 (MQ=255)
                  tCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCtttt                                                    <  1:1027263/71‑1 (MQ=255)
                   cAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATATCTCTTTTg                                                   >  1:1730296/1‑71 (MQ=255)
                    aaCTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCa                                                              >  1:2682491/1‑59 (MQ=255)
                    aaCTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGc                                                  >  1:3257486/1‑71 (MQ=255)
                      cTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCtt                                                >  1:1840161/1‑71 (MQ=255)
                      cTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCtt                                                >  1:605847/1‑71 (MQ=255)
                      cTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCt                                                 >  1:1044817/1‑70 (MQ=255)
                         catcatCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTccc                                             >  1:1025794/1‑71 (MQ=255)
                          atcatcTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTcccc                                            <  1:432329/71‑1 (MQ=255)
                           tcatcTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCt                                                 >  1:2606958/1‑65 (MQ=255)
                            catcTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCa                                          >  1:2989203/1‑71 (MQ=255)
                             atcTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTtctc                                                        <  1:3612093/56‑1 (MQ=255)
                             atcTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCttt                                                     >  1:3684012/1‑59 (MQ=255)
                             atcTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCa                                          <  1:82158/70‑1 (MQ=255)
                             atcTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCAt                                         <  1:170022/71‑1 (MQ=255)
                             atcTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCAt                                         <  1:1746360/71‑1 (MQ=255)
                             atcTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCAt                                         >  1:2185739/1‑71 (MQ=255)
                                ttGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGa                                      >  1:193804/1‑71 (MQ=255)
                                 tGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGa                                      >  1:2493869/1‑70 (MQ=255)
                                  gCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCtt                                                <  1:2411593/59‑1 (MQ=255)
                                  cgcgTTCACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGaca                                    <  1:1200300/68‑1 (MQ=255)
                                      ttCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTg                                                   <  1:2756031/52‑1 (MQ=255)
                                      ttCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCca                                >  1:2331851/1‑71 (MQ=255)
                                      ttCACCTGATATTCACGCAGCAATGCAATCAGTTCCGCCCATTTCTCTTTTGCTTACCCCATCGACAcc                                  >  1:3538357/1‑69 (MQ=255)
                                       tCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCca                                >  1:481678/1‑70 (MQ=255)
                                       tCACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCca                                >  1:2568887/1‑70 (MQ=255)
                                        gaCCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTg                                                   >  1:670768/2‑50 (MQ=255)
                                        cACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCag                                                             >  1:3255679/1‑39 (MQ=255)
                                        cACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCtttt                                                    >  1:1933862/1‑49 (MQ=255)
                                        cACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCttt                                                     >  1:2185709/1‑48 (MQ=255)
                                        cACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTg                                                   >  1:1670275/1‑50 (MQ=255)
                                        cACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGac                                     >  1:1427615/1‑64 (MQ=255)
                                        cACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCcaca                              >  1:3413846/1‑71 (MQ=255)
                                        cACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCcaca                              >  1:1024526/1‑71 (MQ=255)
                                         aCCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCcaca                              <  1:3949957/70‑1 (MQ=255)
                                          ccTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCcacaca                            <  1:969493/71‑1 (MQ=255)
                                           cTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACAt                           >  1:1749662/1‑71 (MQ=255)
                                           cTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCcacacgt                           >  1:2889099/1‑69 (MQ=255)
                                             gATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCg                         >  1:1249276/1‑71 (MQ=255)
                                              atatTCACGCAGCAATGCAATCCGTTCCGCCCATTtctc                                                        <  1:3349437/39‑1 (MQ=255)
                                              atatTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATc                          <  1:1851072/69‑1 (MQ=255)
                                              atatTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATc                          <  1:355764/69‑1 (MQ=255)
                                               tatTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca                                    >  1:3509406/1‑58 (MQ=255)
                                               tatTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCgg                        <  1:50180/70‑1 (MQ=255)
                                                atTCACGCAGCAATGCAATCCGTTACGCCCATTTCTCttt                                                     >  1:3344323/1‑40 (MQ=255)
                                                 ttCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGta                      <  1:1984513/70‑1 (MQ=255)
                                                 ttCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGta                      <  1:1807509/70‑1 (MQ=255)
                                                  tCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGa                                      >  1:3447658/1‑53 (MQ=255)
                                                  ccgcGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGtata                    <  1:1419790/68‑1 (MQ=255)
                                                   cACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATc                                        >  1:595954/1‑50 (MQ=255)
                                                   cACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGta                      >  1:3654838/1‑68 (MQ=255)
                                                   cACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGta                      >  1:2973078/1‑68 (MQ=255)
                                                    aCGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTcc                                              >  1:2217115/1‑43 (MQ=255)
                                                     cGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGCCACCCACACATCGGTATAGa                  >  1:2953382/1‑70 (MQ=255)
                                                      gcagcaGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGTATAGAt                 >  1:651492/1‑70 (MQ=255)
                                                         gcaatgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAg             <  1:819556/71‑1 (MQ=255)
                                                          caatgcaatCCGTTCCGCCAATTTCTCTTTTGCTTCCCCCATCGACACCcacaca                            >  1:1198134/1‑55 (MQ=255)
                                                           aatgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGt            <  1:3871636/70‑1 (MQ=255)
                                                           aatgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGt            >  1:302257/1‑70 (MQ=255)
                                                             tgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGt            <  1:3139908/68‑1 (MQ=255)
                                                             tgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGt            <  1:1206775/68‑1 (MQ=255)
                                                             tgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTc           >  1:1119927/1‑69 (MQ=255)
                                                              gcaatCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCcaca                              >  1:314329/1‑49 (MQ=19)
                                                              gcaatCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCcaca                              >  1:3708127/1‑49 (MQ=19)
                                                              gcaatCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCcaca                              >  1:2594350/1‑49 (MQ=19)
                                                               caatCCGTTCCGCCCATTTCTCTTTTGCTTccccc                                           <  1:1752156/35‑1 (MQ=255)
                                                               caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCgg                        >  1:3543184/1‑54 (MQ=255)
                                                               caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCgg                        >  1:1299522/1‑54 (MQ=255)
                                                               caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCa       >  1:893447/1‑71 (MQ=255)
                                                                 atCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCAc      >  1:2022788/1‑70 (MQ=255)
                                                                  tCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCg                         >  1:71625/1‑50 (MQ=255)
                                                                  tCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCAcc     >  1:3408915/1‑70 (MQ=255)
                                                                  tCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCAcc     >  1:1399315/1‑70 (MQ=255)
                                                                  tCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCt    <  1:1084522/71‑1 (MQ=255)
                                                                  tCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCt    <  1:3320291/71‑1 (MQ=255)
                                                                  tCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGTATAGATAAAGTCCGCGccc    >  1:2377632/1‑70 (MQ=255)
                                                                  tCCGCTCTGCCCACTTCTCTCTGGCCTCGCCCATCGACACCCACACGTCGGTATAGATAAAGTCCGCGccc    >  1:2449673/1‑70 (MQ=255)
                                                                    cGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCca                                >  1:954254/1‑41 (MQ=255)
                                                                    cGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTc  <  1:657793/71‑1 (MQ=255)
                                                                    cGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTc  <  1:1222338/71‑1 (MQ=255)
                                                                      |                                                                    
TGACCTCCGGGTTACCGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTC  >  minE/2918888‑2919026

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: