Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,919,467 G→A 23.0% L77F (CTC→TTC) ‡ argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,919,4670GA23.0% 233.3 / 65.8 126L77F (CTC→TTC) ‡argIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base G (44/53);  new base A (24/5);  total (68/58)
Fisher's exact test for biased strand distribution p-value = 5.28e-04
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.93e-01

Only 100 of 130 total aligned reads displayed.

GCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTT  >  Exported/2919399‑2919537
                                                                    |                                                                      
    ccAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGt                                                                  <  1:22761/71‑1 (MQ=255)
     cAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGt                                                                  <  1:867675/70‑1 (MQ=255)
     cAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTa                                                                 <  1:4491596/71‑1 (MQ=255)
      aaGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTaa                                                                >  1:3226887/1‑71 (MQ=255)
         cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGt                                                                  >  1:2871870/1‑66 (MQ=255)
         cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAcgc                                                             <  1:4518990/71‑1 (MQ=255)
         cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAcgc                                                             <  1:1254243/71‑1 (MQ=255)
         cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAcgc                                                             >  1:3650320/1‑71 (MQ=255)
          aCGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAcgc                                                             <  1:5614383/70‑1 (MQ=255)
                 cggtgtCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGccc                                                     <  1:1362944/69‑1 (MQ=255)
                  aGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCt                                                    <  1:4949510/71‑1 (MQ=255)
                   gtgtCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTg                                                   >  1:2540900/1‑71 (MQ=255)
                      tccttAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCATAAATAGGTACCGCGCGCGCCCTGGt                                                 >  1:5591149/4‑70 (MQ=255)
                      tCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATa                                                                     >  1:450414/1‑50 (MQ=255)
                      tCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCa                                                        <  1:4228580/63‑1 (MQ=255)
                        tttAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATa                                                                     >  1:40336/1‑48 (MQ=255)
                        tttAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAcgcg                                                            <  1:1259835/57‑1 (MQ=255)
                        tttAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAc                                                               >  1:3718214/1‑54 (MQ=255)
                        tttAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGa                                                           >  1:523689/1‑58 (MQ=255)
                        tttAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCa                                               >  1:5383000/1‑70 (MQ=255)
                          tAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCaaat                                            >  1:1306106/1‑71 (MQ=255)
                          tAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCaaat                                            >  1:5364924/1‑71 (MQ=255)
                          tAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCatat                                            >  1:4699447/1‑71 (MQ=255)
                           aaTCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGa                                                           >  1:1250657/1‑55 (MQ=255)
                             ttgACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCg                                         >  1:4575185/3‑71 (MQ=255)
                             ttgACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCg                                         >  1:1819107/3‑71 (MQ=255)
                             tCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCa                                               <  1:2831777/65‑1 (MQ=255)
                               gACTCTTTATGCCCAATCTGGCTTCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCgg                                        >  1:4404883/1‑70 (MQ=255)
                               gACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGccc                                                     >  1:4104350/1‑57 (MQ=255)
                               gACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCg                                         >  1:717621/1‑69 (MQ=255)
                               gACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGGGAGCACCCTGGTCATATGCGGc                                       <  1:1807272/71‑1 (MQ=255)
                               gACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCgg                                        >  1:2110440/1‑70 (MQ=255)
                               gACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGc                                       <  1:218339/71‑1 (MQ=255)
                               gACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGc                                       <  1:2767777/71‑1 (MQ=255)
                                aCTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCAccc                                                     <  1:3902671/56‑1 (MQ=255)
                                aCTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCAccc                                                     <  1:136070/56‑1 (MQ=255)
                                aCTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCa                                      <  1:3390358/71‑1 (MQ=255)
                                 ctctTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAAcgcg                                                            <  1:631830/48‑1 (MQ=19)
                                  tctTTATGACCAATCTGGCTGCCGCTTGGGCCgag                                                                        <  1:941693/35‑1 (MQ=255)
                                  tctTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAg                                                                   <  1:3961688/40‑1 (MQ=255)
                                   ctTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGa                                                           >  1:45659/1‑47 (MQ=255)
                                    tttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCata                                             >  1:2714018/1‑60 (MQ=255)
                                    tttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGc                                       <  1:3622142/66‑1 (MQ=255)
                                    tttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACt                                   >  1:1653631/1‑70 (MQ=255)
                                     ttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc                                 >  1:153013/1‑71 (MQ=255)
                                     ttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc                                 >  1:2903921/1‑71 (MQ=255)
                                      tATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTc                                 >  1:3443826/1‑70 (MQ=255)
                                      tATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGt                                                                  >  1:576103/1‑37 (MQ=255)
                                      tATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCaa                                     >  1:5332485/1‑66 (MQ=255)
                                      tATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc                                 >  1:3174424/1‑70 (MQ=255)
                                        tgcccAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGa                               <  1:280392/67‑1 (MQ=255)
                                        tgcccAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGa                               <  1:3845007/67‑1 (MQ=255)
                                        tGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                               <  1:2969478/70‑1 (MQ=255)
                                        tGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                               <  1:3818374/70‑1 (MQ=255)
                                        tGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                               <  1:513397/70‑1 (MQ=255)
                                         gACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                               <  1:3811750/69‑1 (MQ=255)
                                         gACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                               <  1:207597/69‑1 (MQ=255)
                                          aCCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc                                 <  1:4730925/66‑1 (MQ=255)
                                          aCCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc                                 <  1:2384455/66‑1 (MQ=255)
                                           ccAATCTGGCTGCCGCTTGGGGCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGaaa                             >  1:4659433/1‑69 (MQ=255)
                                            cAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGaaa                             >  1:5187240/1‑68 (MQ=255)
                                            cAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCaa                                     >  1:2786265/1‑60 (MQ=255)
                                            cAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAagag                          >  1:4733164/1‑71 (MQ=255)
                                             aaTCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAagag                          >  1:4736921/1‑70 (MQ=255)
                                              aTCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCa                                                        >  1:5562645/1‑39 (MQ=255)
                                              aTCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCa                        >  1:397055/1‑71 (MQ=255)
                                              aTCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCa                        >  1:3479276/1‑71 (MQ=255)
                                               tCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGaaa                             <  1:5384988/65‑1 (MQ=255)
                                                cTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCg                                         >  1:5238320/1‑52 (MQ=255)
                                                cTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCg                                         >  1:1385077/1‑52 (MQ=255)
                                                cTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGaaa                             >  1:495666/1‑64 (MQ=255)
                                                cTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCaac                      >  1:5124203/1‑69 (MQ=255)
                                                 tGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCg                     >  1:1763425/1‑71 (MQ=255)
                                                 tGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACg                     >  1:302305/1‑71 (MQ=255)
                                                   tcTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGGCAAATGCGGCAACTTCGAAAGAGCaac                      <  1:227589/67‑3 (MQ=255)
                                                   gCTGCCGCTTGTGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCggg                   <  1:2123353/71‑1 (MQ=255)
                                                   gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATc                      <  1:2610503/68‑1 (MQ=255)
                                                   gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCgg                    <  1:3465091/70‑1 (MQ=255)
                                                   gCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACggg                   >  1:726144/1‑71 (MQ=255)
                                                   gCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACggg                   >  1:5339171/1‑71 (MQ=255)
                                                    cTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAaga                           >  1:4036508/1‑62 (MQ=255)
                                                    cTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACggg                   >  1:3978607/1‑70 (MQ=255)
                                                    cTGCAGCTTGGGCCGAGATAAGTAACGCGAGCACCCTgg                                                  >  1:225472/1‑39 (MQ=255)
                                                      gCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTa                 >  1:3230002/1‑70 (MQ=255)
                                                      gCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTAc                >  1:4940451/1‑71 (MQ=255)
                                                       ccGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCa                                               <  1:1307294/39‑1 (MQ=255)
                                                       ccGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCa                                               <  1:1003907/39‑1 (MQ=255)
                                                        cGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTa                 >  1:751527/1‑68 (MQ=255)
                                                        cGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcga              <  1:1587703/71‑1 (MQ=255)
                                                          cTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagt            >  1:1326477/1‑71 (MQ=255)
                                                          cTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagt            >  1:342421/1‑71 (MQ=255)
                                                             gggCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc           <  1:4282139/69‑1 (MQ=255)
                                                             gggCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc           <  1:685737/69‑1 (MQ=255)
                                                              ggCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc           <  1:3089739/68‑1 (MQ=255)
                                                               gCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                               <  1:684815/47‑1 (MQ=255)
                                                                 cGAGATAAGTAACTCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCt     >  1:1494119/1‑71 (MQ=255)
                                                                 cGAGATAAGTAACGCGAGCACCGTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCt     <  1:3426440/71‑1 (MQ=255)
                                                                 cGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                               <  1:3322810/45‑1 (MQ=255)
                                                                    gaTAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtcga         >  1:887751/1‑64 (MQ=255)
                                                                    gaTAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCtttt  <  1:4420153/71‑1 (MQ=255)
                                                                    |                                                                      
GCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTT  >  Exported/2919399‑2919537

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: