Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,919,315 A→G 9.9% N127N (AAT→AAC argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,919,3150AG 9.9% 243.4 / 13.9 91N127N (AAT→AACargIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base A (39/43);  new base G (7/2);  total (46/45)
Fisher's exact test for biased strand distribution p-value = 1.58e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.79e-01

GCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGA  >  Exported/2919248‑2919384
                                                                   |                                                                     
gCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTc                                                                    <  1:1168233/71‑1 (MQ=255)
gCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTc                                                                    <  1:71432/71‑1 (MQ=255)
   aaTGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCAt                                                                 <  1:2454188/71‑1 (MQ=255)
     tGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATAc                                                               >  1:4737010/1‑71 (MQ=255)
     tGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATAc                                                               >  1:3730550/1‑71 (MQ=255)
     tGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATAc                                                               >  1:3789684/1‑71 (MQ=255)
     tGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATAc                                                               <  1:5521335/71‑1 (MQ=255)
     tGCTCCTGCATGGTCATCAGGTCCGCCAGCAGCTGGGTCGGGTGGAACTCGTTGGTCAGCCCGTTCCacac                                                               >  1:2477149/1‑71 (MQ=255)
      gCTCCTGCATGGTCATCAGGTCCGCCAGCAGCTGGGTCGGGTGGAACTCGTTGGTCAGCCCGTTCCa                                                                  >  1:3222573/1‑67 (MQ=255)
        tCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCgg                                                            >  1:1028938/1‑71 (MQ=255)
         ccTGCATGGTCATCAGGTCCGCCAGCAGCTGGGTCGGGTGGAACTCGTTGGTCAGCCCGTTCCACACCgg                                                            >  1:4908013/1‑70 (MQ=255)
          cTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCAt                                                                 <  1:3892490/64‑1 (MQ=255)
          cTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCa                                                          >  1:5638374/1‑71 (MQ=255)
          cTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCa                                                          >  1:4673446/1‑71 (MQ=255)
          cTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCa                                                          >  1:4666714/1‑71 (MQ=255)
          cTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCa                                                          >  1:1223372/1‑71 (MQ=255)
          cTGCATGGTCATCAGGTCCGCCAGCAGCTGGGTCGGGTGGAACTCGTTGGTCAGCACGTTCCACACCGGCa                                                          >  1:5084020/1‑71 (MQ=255)
           tGCATGGTCATCAGGTCCGCCAGCAGCTGGGTCGGGTGGAACTCGTTGGTCAGCCCGTTCCac                                                                 <  1:5158794/63‑2 (MQ=255)
             cATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGc                                                       >  1:1811018/1‑71 (MQ=255)
             cATGGTCATCAGGTCCGCCAGCAGCTGGGTCGGGTGGAACTCGTTGGTCAGCCCGTTCCaca                                                                >  1:4321845/1‑60 (MQ=255)
             cATGGTCATCAGGTCCGCCAGCAGCTGGGTCGGGTGGAACTCGTTGGTCAGCCCGTTCCACACCGGCACGc                                                       >  1:3624200/1‑71 (MQ=255)
             cATGGTCATCAGGTCCGCCAGCAGCTGGGTCGGGTGGAACTCGTTGGTCAGCCCGTTCCACACCGGCACGc                                                       >  1:666396/1‑71 (MQ=255)
              aTGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGc                                                       >  1:4712972/1‑70 (MQ=255)
              aTGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCt                                                      <  1:1884845/71‑1 (MQ=255)
                ggTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAg                                                    >  1:4734366/1‑71 (MQ=255)
                 gTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCt                                                      <  1:5235145/68‑1 (MQ=255)
                  tGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCg                                                             <  1:1008725/60‑1 (MQ=255)
                    agaagaTCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTa                                                >  1:3144281/1‑71 (MQ=255)
                        gaTCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTcc                                            <  1:492190/71‑1 (MQ=255)
                        gaTCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTcc                                            <  1:1094994/71‑1 (MQ=255)
                         aTCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCa                                                                  >  1:4084968/1‑48 (MQ=255)
                         aTCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCa                                                                  >  1:1684915/1‑48 (MQ=255)
                           ccGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCa                                                          >  1:1314175/1‑54 (MQ=255)
                           ccGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGc                                          >  1:1182776/1‑70 (MQ=255)
                             gCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATAc                                                               >  1:1855641/1‑47 (MQ=255)
                             gCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAg                                       >  1:256341/1‑71 (MQ=255)
                              ccAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAgt                                      <  1:4649019/71‑1 (MQ=255)
                                 gcagcTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAgtg                                     >  1:4436788/1‑69 (MQ=255)
                                  cagcTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCAt                                                                 <  1:2364871/40‑1 (MQ=255)
                                    gcTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCg                                <  1:540105/71‑1 (MQ=255)
                                     cTGCGTGGGATGGAACTCATTGGTCAGGCCATTcc                                                                   >  1:1935097/1‑35 (MQ=255)
                                       gCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCg                                                             >  1:4106739/1‑39 (MQ=255)
                                       gCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGAc                              >  1:4554183/1‑70 (MQ=255)
                                        cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACaa                            <  1:4943226/71‑1 (MQ=255)
                                        cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACa                             <  1:5410958/70‑1 (MQ=255)
                                        cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACa                             <  1:1013121/70‑1 (MQ=255)
                                        cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACa                             <  1:2351598/70‑1 (MQ=255)
                                         gTGGGATGGAACTCATTGGTCAGGCCATTCCATACGGGCACGCTAGCGTATTCCGCCAGTGTTTCGACa                             <  1:980047/69‑1 (MQ=255)
                                          tGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtc                          <  1:4858629/71‑1 (MQ=255)
                                              aTGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt                      <  1:773674/71‑1 (MQ=255)
                                               tGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGc                                                   >  1:466979/1‑41 (MQ=255)
                                               tGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt                      >  1:4717303/1‑70 (MQ=255)
                                               tGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt                      >  1:2501416/1‑70 (MQ=255)
                                                 gAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGAc                   >  1:1907166/1‑71 (MQ=255)
                                                   aCTCATTGGTCAGGCCATTCCATACCTGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCa                 <  1:58522/71‑1 (MQ=255)
                                                    cTCGTTGGTCAGCCCGTTCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGccgt                <  1:2124962/71‑3 (MQ=255)
                                                    cTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCAt                <  1:1589782/71‑1 (MQ=255)
                                                    cTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCAt                <  1:2992503/71‑1 (MQ=255)
                                                    cTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCAt                <  1:3328650/71‑1 (MQ=255)
                                                     tCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCg                                           <  1:4003715/43‑1 (MQ=255)
                                                     tCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCg                                           <  1:1892150/43‑1 (MQ=255)
                                                     tCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCg                                           <  1:2920689/43‑1 (MQ=255)
                                                     tCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGAc                              >  1:212285/1‑56 (MQ=255)
                                                      cATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAg              >  1:1217205/1‑71 (MQ=255)
                                                       aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtctc                        >  1:4668015/1‑60 (MQ=255)
                                                       aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGc             >  1:5324878/1‑71 (MQ=255)
                                                       aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGc             >  1:5674693/1‑71 (MQ=255)
                                                         tGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGa                               >  1:1539121/1‑51 (MQ=255)
                                                         tGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGa                    >  1:3549004/1‑62 (MQ=255)
                                                          ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtc                          >  1:4569142/1‑55 (MQ=255)
                                                          ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtc                          >  1:1910597/1‑55 (MQ=255)
                                                          ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtc                          >  1:3257760/1‑55 (MQ=255)
                                                          ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGa                    >  1:5145407/1‑61 (MQ=255)
                                                          ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGa                    >  1:3724808/1‑61 (MQ=255)
                                                           gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc          <  1:4780463/70‑1 (MQ=255)
                                                           gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc          <  1:571441/70‑1 (MQ=255)
                                                           gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc          <  1:2973416/70‑1 (MQ=255)
                                                           gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc          <  1:2879803/70‑1 (MQ=255)
                                                            tCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCa                                        <  1:3460710/39‑1 (MQ=255)
                                                            tCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCa                                        <  1:2228256/39‑1 (MQ=255)
                                                            tCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa        <  1:3589598/71‑1 (MQ=255)
                                                            tCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa        <  1:1858072/71‑1 (MQ=255)
                                                              aGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGAt       <  1:3962260/70‑1 (MQ=255)
                                                              aGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATa      >  1:2758018/1‑71 (MQ=255)
                                                               ggCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATa               <  1:4341432/61‑1 (MQ=255)
                                                               ggCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa        <  1:241723/68‑1 (MQ=255)
                                                               ggCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa        <  1:1413791/68‑1 (MQ=255)
                                                                gCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCa                 <  1:900757/58‑1 (MQ=255)
                                                                gCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACt    <  1:1812446/71‑1 (MQ=255)
                                                                 ccATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTg   <  1:1675769/71‑1 (MQ=255)
                                                                  cATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGa  <  1:4742506/71‑1 (MQ=255)
                                                                   |                                                                     
GCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGA  >  Exported/2919248‑2919384

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: