Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 190,069 G→C 33.9% G522G (GGG→GGC ldcC → lysine decarboxylase 2, constitutive

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported190,0690GC33.9% 64.1 / 46.8 56G522G (GGG→GGCldcClysine decarboxylase 2, constitutive
Reads supporting (aligned to +/- strand):  ref base G (21/16);  new base C (4/15);  total (25/31)
Fisher's exact test for biased strand distribution p-value = 1.28e-02
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

AATATGAGCGAGGAGGGGATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTATTGGCATCGATAAAACCA  >  Exported/190010‑190136
                                                           |                                                                   
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)
      aGCGAGGAGGGGATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCgtag                                                              >  1:2358403/1‑61 (MQ=255)
      aGCGAGGAGGGGATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCgta                                                               >  1:442191/1‑60 (MQ=255)
          aggaggGGATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGc                                                >  1:3891542/1‑71 (MQ=255)
                    cccGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCgt                                                                <  1:5321746/45‑1 (MQ=255)
                    cccGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCgt                                                                <  1:2847685/45‑1 (MQ=255)
                      cggcggCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCgtag                                                              >  1:3050286/1‑45 (MQ=255)
                      cggcggCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCgtag                                                              >  1:641688/1‑45 (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                                               <  1:3979568/49‑1 (MQ=255)
                                 gTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGcc                                               <  1:3856959/49‑1 (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                    <  1:1921034/70‑3 (MQ=255)
                                      gaaaTACCTCGACGAACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAgca                    <  1:2563564/70‑3 (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                                       >  1:2433211/1‑42 (MQ=255)
                                                gacgaACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAAc                                       >  1:5039417/1‑42 (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   <  1:4827765/70‑1 (MQ=255)
                                                       atGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATCGATAAGAcc   <  1:719281/70‑1 (MQ=255)
                                                        tGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATCg           <  1:4706954/62‑1 (MQ=12)
                                                        tGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATCg           <  1:1373705/62‑1 (MQ=12)
                                                        tGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATCg           <  1:1265055/62‑1 (MQ=12)
                                                        tGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATCGATAAGACCa  <  1:1566860/71‑1 (MQ=255)
                                                          ggATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTATTGGCATCGATAAAACCa  >  1:2260222/1‑69 (MQ=255)
                                                           |                                                                   
AATATGAGCGAGGAGGGGATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTATTGGCATCGATAAAACCA  >  Exported/190010‑190136

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: