Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,918,706 C→T 17.3% A330A (GCG→GCA argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,918,7060CT17.3% 174.7 / 24.2 75A330A (GCG→GCAargIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base C (36/26);  new base T (10/3);  total (46/29)
Fisher's exact test for biased strand distribution p-value = 3.48e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

AATAATGTGATGCCGGGATGGTTTGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATT  >  Exported/2918636‑2918776
                                                                      |                                                                      
aataatGTGATGCCGGGATGGTTTGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTc                                                                        >  1:1681120/1‑71 (MQ=255)
 ataatGTGATGCCGGGATGGTTTGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTcg                                                                       <  1:4984899/71‑1 (MQ=255)
  taatGTGATGCCGGGATGGTTTGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTcgc                                                                      >  1:1113627/1‑71 (MQ=255)
  taatGTGATGCCGGGATGGTTTGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTcgc                                                                      <  1:3277730/71‑1 (MQ=255)
     tgtgATGCCGGGATGGTTTGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGAc                                                                   >  1:2946233/1‑71 (MQ=255)
       tgATGCCGGGATGGTTTGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCa                                                                 >  1:254862/1‑71 (MQ=255)
            ccGGGATGGTTTGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTcgc                                                                      >  1:3323573/1‑61 (MQ=255)
               ggATGGTTTGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCt                                                         >  1:4952249/1‑71 (MQ=255)
                    gTTTGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCttt                                                       <  1:1225665/68‑1 (MQ=255)
                    gTTTGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGa                                                     >  1:4493962/1‑70 (MQ=255)
                     tttGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTc                                                                        <  1:1172026/50‑1 (MQ=255)
                     tttGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGc                                                          <  1:5028151/64‑1 (MQ=255)
                      ttGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAg                                                  >  1:3224325/1‑71 (MQ=255)
                       tGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAg                                                  <  1:3989188/70‑1 (MQ=255)
                        gTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGt                                                 <  1:3399092/70‑1 (MQ=255)
                           tttCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATg                                              <  1:4386006/70‑1 (MQ=255)
                            ttCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGAc                                                                   <  1:3375353/48‑1 (MQ=255)
                            ttCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGAc                                                                   <  1:1292029/48‑1 (MQ=255)
                             tCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTa                                                >  1:2017864/1‑66 (MQ=255)
                             tCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCa                                            >  1:3347589/1‑70 (MQ=255)
                             tCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCa                                            >  1:3341005/1‑70 (MQ=255)
                             tCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCa                                            >  1:5341780/1‑70 (MQ=255)
                               ccGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATAc                                         <  1:5545724/71‑1 (MQ=255)
                                   cATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGtt                                     >  1:4954906/1‑71 (MQ=255)
                                    aTCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGttt                                    <  1:3802137/71‑1 (MQ=255)
                                    aTCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGttt                                    >  1:2628298/1‑71 (MQ=255)
                                    aTCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGttt                                    <  1:2768712/71‑1 (MQ=255)
                                     tCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCAt                                                                <  1:3541883/42‑1 (MQ=255)
                                     tCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCAt                                                                <  1:1480301/42‑1 (MQ=255)
                                     tCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGttt                                    <  1:4029539/70‑1 (MQ=255)
                                      cTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTa                                                >  1:2053410/1‑57 (MQ=255)
                                       tttATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCa                                                              >  1:5363888/1‑42 (MQ=255)
                                       tttATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCa                                                              >  1:1299978/1‑42 (MQ=255)
                                       tttATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAg                                                  >  1:329472/1‑54 (MQ=255)
                                       tttATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAg                                                  >  1:350076/1‑54 (MQ=255)
                                       tttATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGtt                                     >  1:3318140/1‑67 (MQ=255)
                                       tttATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTcc                                 >  1:2134231/1‑71 (MQ=255)
                                         tataGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGa                                                     >  1:2306536/1‑49 (MQ=255)
                                         tataGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGa                                                     <  1:2884489/49‑1 (MQ=255)
                                         tataGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGa                                                     <  1:1345715/49‑1 (MQ=255)
                                         tataGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGa                                                     >  1:3878840/1‑49 (MQ=255)
                                         tataGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGa                                                     <  1:5553535/49‑1 (MQ=255)
                                         tataGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGa                                                     <  1:2512428/49‑1 (MQ=255)
                                         tataGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCAGc                               >  1:2111593/1‑71 (MQ=255)
                                           taGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTAGATa                                                   >  1:5103857/1‑49 (MQ=255)
                                                aTAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATc                         >  1:877360/1‑70 (MQ=255)
                                                  aGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGt                                                 >  1:1603840/1‑44 (MQ=255)
                                                  aGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCa                                            >  1:345850/1‑49 (MQ=255)
                                                  aGCAATTATTTACTGAGCGTCGCGACAATCACCGCTTTGATAGt                                                 >  1:2700498/1‑44 (MQ=255)
                                                   gCAATTATTTACTGAGCGTCGCGCCCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCaaa                      >  1:492088/1‑70 (MQ=255)
                                                       ttattTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTcc                                 >  1:3790499/1‑55 (MQ=255)
                                                       ttattTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACaa                 <  1:993431/71‑1 (MQ=255)
                                                        tattTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATAc                                         >  1:3946427/1‑46 (MQ=255)
                                                         attTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATg               >  1:2060654/1‑71 (MQ=255)
                                                          tttACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATg               <  1:644712/70‑1 (MQ=255)
                                                          tttACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATAAAAAACAATg               <  1:4485733/70‑1 (MQ=255)
                                                            tACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCt             <  1:5530519/70‑1 (MQ=255)
                                                               tGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATAc                                         <  1:808261/39‑1 (MQ=255)
                                                               tGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATAc                                         <  1:339861/39‑1 (MQ=255)
                                                               tGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTc                                  >  1:1120100/1‑46 (MQ=255)
                                                               caaGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTcgcc         >  1:2189689/3‑70 (MQ=255)
                                                                gAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTgg           <  1:5353396/68‑1 (MQ=255)
                                                                aaGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGcc                              >  1:66774/2‑49 (MQ=16)
                                                                aaGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGcc                              >  1:4582003/2‑49 (MQ=16)
                                                                aaGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGcc                              >  1:353828/2‑49 (MQ=16)
                                                                aaGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTcg                        <  1:5402266/54‑2 (MQ=255)
                                                                aaGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTcgccg        >  1:4261758/2‑69 (MQ=255)
                                                                 aGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGc                               >  1:59125/1‑47 (MQ=16)
                                                                 aGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGc                               >  1:5206397/1‑47 (MQ=16)
                                                                 aGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGc                               >  1:4394633/1‑47 (MQ=16)
                                                                 aGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGc                               >  1:3633256/1‑47 (MQ=16)
                                                                 aGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGc                               >  1:4102399/1‑47 (MQ=16)
                                                                 aGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTcg                        <  1:1345654/54‑2 (MQ=255)
                                                                 aGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAacac                   <  1:1100466/59‑1 (MQ=255)
                                                                 aGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACaa                 >  1:170761/1‑61 (MQ=255)
                                                                 aGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTggcgg        >  1:4924839/1‑70 (MQ=255)
                                                                 aGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTggcgg        <  1:4542014/70‑1 (MQ=255)
                                                                 aGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTggcgg        >  1:3020288/1‑70 (MQ=255)
                                                                  gCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCa      <  1:4845447/71‑1 (MQ=255)
                                                                   cGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCaaaaa                    >  1:4725549/1‑56 (MQ=255)
                                                                   cGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCaaaaa                    >  1:757299/1‑56 (MQ=255)
                                                                     gcgcgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCa      <  1:4935280/67‑1 (MQ=255)
                                                                      cgcgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGAtt  >  1:5627546/1‑71 (MQ=255)
                                                                      |                                                                      
AATAATGTGATGCCGGGATGGTTTGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATT  >  Exported/2918636‑2918776

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: