Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 190,078 A→T 44.5% V525V (GTA→GTT ldcC → lysine decarboxylase 2, constitutive

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported190,0780AT44.5% 26.5 / 70.2 54V525V (GTA→GTTldcClysine decarboxylase 2, constitutive
Reads supporting (aligned to +/- strand):  ref base A (17/13);  new base T (4/20);  total (21/33)
Fisher's exact test for biased strand distribution p-value = 4.53e-03
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 6.59e-01

AATATGAGCGAGGAGGGGATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTATTGGCATCGATAAAACCAAAGCAATGGGAT  >  Exported/190010‑190148
                                                                    |                                                                      
aaTATGAGCGAGGAGGGGATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTaga                                                                      <  1:4745519/71‑1 (MQ=255)
    tGAGCGAGGAGGGTATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGaa                                                                   <  1:2350713/70‑1 (MQ=255)
    tGAGCGAGGAGGGGATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTagag                                                                     >  1:5387258/1‑68 (MQ=255)
    tGAGCGAGGAGGGGATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGaa                                                                   >  1:1456284/1‑70 (MQ=255)
    tGAGCGAGGAGGGGATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGaa                                                                   <  1:2023902/70‑1 (MQ=255)
          aggaggGGATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGc                                                            >  1:3891542/1‑71 (MQ=255)
                      cggcggCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACctg                                                >  1:4643796/1‑71 (MQ=255)
                       ggcggcGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTta                                                       <  1:1127544/63‑1 (MQ=255)
                       ggcggcGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACctgc                                               <  1:1885781/71‑1 (MQ=255)
                               tGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTtctc                                       >  1:5501753/1‑71 (MQ=255)
                                 gTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCg                                                              >  1:3409359/1‑46 (MQ=255)
                                 gTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGcc                                                           <  1:3856959/49‑1 (MQ=255)
                                 gTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGcc                                                           <  1:3979568/49‑1 (MQ=255)
                                  tAGCAAAATTCCTCGACGAACGTGGGATCGTAGTaga                                                                      <  1:5169902/37‑1 (MQ=255)
                                     cAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCtt                                                        <  1:4343062/48‑1 (MQ=255)
                                     cAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCtt                                                        <  1:3965627/48‑1 (MQ=255)
                                     cAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTa                                   <  1:4080404/69‑1 (MQ=255)
                                     cAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAg                                  >  1:3135692/1‑70 (MQ=255)
                                      gaaaTACCTCGACGAACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAgca                                <  1:2563564/70‑3 (MQ=255)
                                      gaaaTACCTCGACGAACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAgca                                <  1:1921034/70‑3 (MQ=255)
                                      aaaaTTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTa                                >  1:5446262/1‑71 (MQ=255)
                                       aaaTACCTCGACGAACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGttc                                    <  1:212265/66‑2 (MQ=255)
                                        aaTTCCTCGACGAACGTGGGATCGTAGTAGAGaaa                                                                  <  1:1631540/35‑1 (MQ=255)
                                        aaTACCTCGACGAACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCAtc                              >  1:3633037/1‑70 (MQ=255)
                                         aTTCCTCGACGAACGTGGGATCGTAGTAGAGaaaa                                                                 >  1:310909/1‑35 (MQ=255)
                                          ttCCTCGACGAACGTGGGATCGTAGTAGAGAAAAc                                                                >  1:4916474/1‑35 (MQ=255)
                                          ttCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTATTgg                            >  1:705990/1‑71 (MQ=255)
                                          taccTCGACGAACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCgg                            <  1:164118/69‑1 (MQ=255)
                                             cTCGACGAACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTAt                         >  1:880512/1‑71 (MQ=255)
                                               cgacgaACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTAt                               <  1:973463/63‑1 (MQ=255)
                                               cgacgaACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTATTGGCATc                        >  1:682283/1‑70 (MQ=255)
                                                gacgaACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAAc                                                   >  1:5039417/1‑42 (MQ=255)
                                                gacgaACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAAc                                                   >  1:2433211/1‑42 (MQ=255)
                                                gacgaACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATc                        <  1:4136023/69‑1 (MQ=255)
                                                gacgaACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATc                        <  1:288101/69‑1 (MQ=255)
                                                 acgaACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATCGa                      >  1:3479110/1‑70 (MQ=255)
                                                 acgaACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATCGAt                     <  1:3428638/71‑1 (MQ=255)
                                                 acgaACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATCGAt                     <  1:2344690/71‑1 (MQ=255)
                                                  cgaACGTGGGATCGTAGTAGAGAAAACCGGCCCTtata                                                     <  1:3088921/38‑1 (MQ=255)
                                                   gaACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTATTGGCATCGATa                    >  1:4932308/1‑70 (MQ=255)
                                                   gaACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCAtc                              >  1:1705181/1‑59 (MQ=12)
                                                    aaCATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACctgc                                               <  1:1434562/42‑1 (MQ=12)
                                                     aCGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACctgc                                               >  1:176999/1‑41 (MQ=255)
                                                     aCGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTATTGGc                           >  1:4708487/1‑61 (MQ=255)
                                                       atGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATCGATAAGAcc               <  1:719281/70‑1 (MQ=255)
                                                       atGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATCGATAAGAcc               <  1:4827765/70‑1 (MQ=255)
                                                        tGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATCg                       <  1:1265055/62‑1 (MQ=12)
                                                        tGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATCg                       <  1:1373705/62‑1 (MQ=12)
                                                        tGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATCg                       <  1:4706954/62‑1 (MQ=12)
                                                        tGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATCGATAAGACCa              <  1:1566860/71‑1 (MQ=255)
                                                          ggATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTATTGGCATCGATAAAACCa              >  1:2260222/1‑69 (MQ=255)
                                                           caTCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCAtc                              <  1:608460/51‑2 (MQ=12)
                                                           caTCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATCGATAAGACCAAAg           <  1:5253021/70‑1 (MQ=255)
                                                           caTCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATCGATAAGACCAAAg           <  1:2596964/70‑1 (MQ=255)
                                                            aTCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATCGATAAGACCAAAGc          <  1:2341838/71‑1 (MQ=255)
                                                             tCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAg                                  <  1:5287639/46‑1 (MQ=12)
                                                             tCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTATTGGCATCGATAAAACCAAAGCa         <  1:1695552/71‑1 (MQ=255)
                                                                    agagAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTATTGGCATCGATAAAACCAAAGCAATGGGat  >  1:2420110/1‑71 (MQ=255)
                                                                    |                                                                      
AATATGAGCGAGGAGGGGATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTATTGGCATCGATAAAACCAAAGCAATGGGAT  >  Exported/190010‑190148

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: