Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,919,414 G→C 14.2% A94A (GCC→GCG argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,919,4140GC14.2% 310.6 / 35.9 124A94A (GCC→GCGargIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base G (62/44);  new base C (13/4);  total (76/48)
Fisher's exact test for biased strand distribution p-value = 1.89e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.88e-01

Only 100 of 133 total aligned reads displayed.

CAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCAC  >  Exported/2919345‑2919484
                                                                     |                                                                      
cAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg                                                                       <  1:4073582/71‑1 (MQ=255)
 agcgtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCgcgc                                                                      <  1:1399009/68‑1 (MQ=255)
 agcgtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCgcgc                                                                      <  1:2994542/68‑1 (MQ=255)
  gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg                                                                       >  1:846323/1‑69 (MQ=255)
  gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg                                                                       >  1:1392164/1‑69 (MQ=255)
  gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg                                                                       >  1:1101333/1‑69 (MQ=255)
     tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtg                                                                  >  1:261763/1‑71 (MQ=255)
     tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgt                                                                   <  1:2736729/70‑1 (MQ=255)
       tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTc                                                                >  1:4688723/1‑71 (MQ=255)
       tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTc                                                                >  1:161096/1‑71 (MQ=255)
         gACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCtt                                                              <  1:5474177/71‑1 (MQ=255)
         gACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCtt                                                              <  1:2301822/71‑1 (MQ=255)
            aaTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTaa                                                           <  1:1606965/71‑1 (MQ=255)
                  cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                                         <  1:1424075/67‑1 (MQ=255)
                  cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                                         >  1:1537469/1‑67 (MQ=255)
                  cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                       >  1:5649331/1‑69 (MQ=255)
                  cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                       >  1:2821532/1‑69 (MQ=255)
                  cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct                                                     >  1:2343272/1‑71 (MQ=255)
                   tGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                       <  1:629304/68‑1 (MQ=255)
                    gACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTAAATCGActct                                                   >  1:2658552/1‑71 (MQ=255)
                      ccATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                       >  1:2899789/1‑65 (MQ=255)
                       cATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCttt                                                 >  1:242901/1‑70 (MQ=255)
                         tAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAt                                               >  1:3135233/1‑70 (MQ=255)
                           gCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                                         >  1:4397023/1‑58 (MQ=255)
                           gCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                       >  1:1259896/1‑60 (MQ=255)
                           gCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                       >  1:2471840/1‑60 (MQ=255)
                           accGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATgcc                                            >  1:3168685/2‑69 (MQ=255)
                           accGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATgcc                                            >  1:114803/2‑69 (MQ=255)
                            ccGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATgcc                                            >  1:3837458/1‑68 (MQ=255)
                            ccGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATgcc                                            >  1:118750/1‑68 (MQ=255)
                              gcgATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCaa                                         <  1:1430620/71‑1 (MQ=255)
                               cgATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGAct                                                     >  1:2446098/1‑58 (MQ=255)
                               cgATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt                                                  <  1:3285013/61‑1 (MQ=255)
                                 aTACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                                         >  1:4883388/1‑52 (MQ=255)
                                  tACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTaa                                                           >  1:134308/1‑49 (MQ=255)
                                  tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtg                                                                  <  1:1824800/42‑1 (MQ=255)
                                  tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                                         <  1:75454/51‑1 (MQ=255)
                                  tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                                         <  1:4917832/51‑1 (MQ=255)
                                  tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt                                      <  1:5450936/70‑1 (MQ=255)
                                  tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt                                      <  1:548513/70‑1 (MQ=255)
                                   aCTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg                                    >  1:5162771/1‑71 (MQ=255)
                                    cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt                                                                 <  1:2991618/41‑1 (MQ=255)
                                    cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt                                                                 <  1:736227/41‑1 (MQ=255)
                                    cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                       >  1:2246479/1‑51 (MQ=255)
                                    cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                       >  1:2172264/1‑51 (MQ=255)
                                    cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg                                    <  1:63655/70‑1 (MQ=255)
                                    cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg                                    <  1:925971/70‑1 (MQ=255)
                                    cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGc                                   >  1:5097980/1‑71 (MQ=255)
                                    cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGc                                   >  1:5073876/1‑71 (MQ=255)
                                      gAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTg                                 >  1:761281/1‑71 (MQ=255)
                                        aTACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGa                                             <  1:4920252/57‑1 (MQ=255)
                                         tACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt                                                  <  1:1953064/51‑1 (MQ=255)
                                         tACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt                                      >  1:3357756/1‑63 (MQ=255)
                                            cGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCtt                           <  1:2251261/71‑1 (MQ=255)
                                            cGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCtc                           >  1:5537000/1‑70 (MQ=255)
                                            cGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCtc                           <  1:3275831/71‑2 (MQ=255)
                                            cGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCtc                           <  1:1665900/71‑2 (MQ=255)
                                             gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg                          >  1:1869083/1‑71 (MQ=255)
                                             gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg                          >  1:5531244/1‑71 (MQ=255)
                                             gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg                          >  1:4752809/1‑71 (MQ=255)
                                             gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg                          <  1:94395/71‑1 (MQ=255)
                                              tCATACATTCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt                                                  <  1:1357500/46‑1 (MQ=255)
                                              tCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt                                                  <  1:1413106/46‑1 (MQ=255)
                                              tCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTg                                     <  1:632779/59‑1 (MQ=255)
                                              tCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCgg                         >  1:840455/1‑71 (MQ=255)
                                                aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAAt                                                          >  1:2011524/1‑36 (MQ=255)
                                                aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                                         >  1:4025508/1‑37 (MQ=255)
                                                aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTa                                                >  1:3644727/1‑46 (MQ=255)
                                                aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGc                       >  1:3595857/1‑71 (MQ=255)
                                                aTACATGCGACCAAGCACGCGAGCAGTGTCTTTAATCGACTCTTTa                                                >  1:2356375/1‑46 (MQ=255)
                                                aTACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCggcc                       >  1:3962020/1‑69 (MQ=255)
                                                 tACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                                         <  1:1540406/36‑1 (MQ=255)
                                                 tACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                       <  1:952870/38‑1 (MQ=255)
                                                 tACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGccc                      >  1:3542633/1‑71 (MQ=255)
                                                 tACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGccc                      >  1:1830407/1‑71 (MQ=255)
                                                  aCATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc                      >  1:4259163/1‑70 (MQ=255)
                                                  aCATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGccc                      >  1:4988122/1‑70 (MQ=255)
                                                  aCATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGccc                      >  1:5546291/1‑70 (MQ=255)
                                                   cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct                                                     >  1:5116345/1‑38 (MQ=255)
                                                   cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc                      >  1:5194333/1‑69 (MQ=255)
                                                   cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc                      >  1:4151673/1‑69 (MQ=255)
                                                   cATGCGACCAACCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCga                    <  1:2594551/71‑1 (MQ=255)
                                                    aTGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc                      >  1:4380865/1‑68 (MQ=255)
                                                     tGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc                      >  1:3635020/1‑67 (MQ=255)
                                                      gCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg                                    >  1:1002154/1‑52 (MQ=255)
                                                           cAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGt             <  1:867675/70‑1 (MQ=255)
                                                           cAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTa            <  1:4491596/71‑1 (MQ=255)
                                                           cAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTa            <  1:3437969/71‑1 (MQ=255)
                                                            aaGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTaa           >  1:3226887/1‑71 (MQ=255)
                                                             aGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCtt                           <  1:2231518/54‑1 (MQ=255)
                                                             aGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTaa           <  1:4695923/70‑1 (MQ=255)
                                                              gCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATaa               >  1:5623959/1‑65 (MQ=255)
                                                               cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg                                    >  1:4376206/1‑43 (MQ=255)
                                                               cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg                                    >  1:1145620/1‑43 (MQ=255)
                                                               cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg                                    >  1:4564316/1‑43 (MQ=255)
                                                               cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGt             >  1:2871870/1‑66 (MQ=255)
                                                               cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAcgc        >  1:3650320/1‑71 (MQ=255)
                                                               cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAcgc        <  1:4518990/71‑1 (MQ=255)
                                                               cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAcgc        <  1:1254243/71‑1 (MQ=255)
                                                                aCGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAcgc        <  1:5614383/70‑1 (MQ=255)
                                                                     |                                                                      
CAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCAC  >  Exported/2919345‑2919484

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: