Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	264,098	G→T	L50L (CTC→CTA)	ykfH ←	uncharacterized protein

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	264,098	0	G	T	97.7%	117.7 / NA	44	L50L (CTC→CTA)	ykfH	uncharacterized protein
Reads supporting (aligned to +/- strand):  ref base G (1/0);  new base T (20/22);  total (22/22)
Fisher's exact test for biased strand distribution p-value = 4.88e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

GACGGGCTCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCGAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTAC  >  NC_000913_3_hsa_tpiA/263950‑264234                                                                                                                                                     |                                                                                                                                         gACGGGCTCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAATTCTCCTCTCTTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACcgcg                                                                                                                                          >  1:150198/1‑149 (MQ=255)   cGGGCTCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAg                                                                                                                                        <  1:516769/149‑1 (MQ=255)    gggCTCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAg                                                                                                                                        <  1:482187/148‑1 (MQ=255)           cAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAg                                                                                                                                        <  1:114636/141‑1 (MQ=255)           cAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAg                                                                                                                                        >  2:114636/1‑141 (MQ=255)            aGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGc                                                                                                                               <  1:144281/149‑1 (MQ=255)                  aGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATc                                                                                                                         >  2:127884/1‑149 (MQ=255)                    tgtAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACAATTGTCAGTACAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGCCGCATACCGCCAGGACTCCGGCGATATccc                                                                                                                       >  2:670926/1‑148 (MQ=255)                      tAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGa                                                                                                                     >  1:194752/1‑149 (MQ=255)                       aaTCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGaa                                                                                                                    <  1:507283/149‑1 (MQ=255)                        aTCTCCCGCTGCAGGCCCCTGATAGGGTTGCTCATTACAGTTCTCCACTATTGCCAGTTCAGGGTGATGCTCGTCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGCCGTCTACCGCGCGGACTCCGGCGGTCTCCgacac                                                                                                                   >  2:345231/1‑145 (MQ=255)                            cccGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTcc                                                                                                               >  1:214658/1‑149 (MQ=255)                                   cAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCgg                                                                                                        <  1:406191/149‑1 (MQ=255)                                         ccTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAAt                                                                                                  <  2:150198/149‑1 (MQ=255)                                             gTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTa                                                                                                    >  1:28473/1‑143 (MQ=255)                                             gTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTa                                                                                                    <  2:28473/143‑1 (MQ=255)                                                gggTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGATAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAggc                                                                                           >  1:481329/1‑147 (MQ=255)                                                               gTTGTCCACGATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTACAGGGCCCATGGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTg                                                                            <  2:71146/149‑1 (MQ=21)                                                                ttCTCCACTATTGTGAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTgg                                                                           <  2:213547/149‑1 (MQ=255)                                                                   tcCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTAt                                                                        <  1:127884/149‑1 (MQ=255)                                                                   tcCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTAt                                                                        >  1:701399/1‑149 (MQ=255)                                                                   tcCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGGAATGTCAGACGCTACCGTGCCACTGGtct                                                                        >  1:69464/1‑147 (MQ=255)                                                                     cACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACCGACGCTACCGTGCCCCTGGGAttt                                                                      >  2:53336/1‑149 (MQ=255)                                                                     cACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGGAttg                                                                      >  1:2601/1‑148 (MQ=255)                                                                       ttATTGTCAGTTGAGGGTGATGCGCATCAGGCAGGTATAGGGCCCGTTGGGGGCCTGGCGGCGTTCGGCGTATACCGCTAGGGCTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGc                                                                    <  2:622942/148‑1 (MQ=18)                                                                              cAGTTCAGGGTGATGCTCATCATGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCa                                                             <  1:564017/149‑1 (MQ=255)                                                                               agctCAGGATGATGCTCATCAGGCAGGTATAGGGCCCATAGAGGTCCAGGCAGAGTTCGGAGTATACCGCTAGGACTCGGGCGATATCCGGAACGTCGCTGCCGGTGTAATGACAGACGCTACCGGGCCCCTCGCATCTGCCGGttctg                                                            >  2:438489/4‑145 (MQ=21)                                                                                 ttCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTACTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCTCTGGTATTTGCCGGTGCAGTa                                                          <  2:668007/149‑1 (MQ=255)                                                                                    aGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCg                                                       >  1:382333/1‑149 (MQ=255)                                                                                    aGGGGGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTGCCTGCCGGGGTAATGACAGACGCTACCGTGCAACTGGTATTTGCCGGTGCAGTAGCg                                                       >  2:397881/1‑149 (MQ=21)                                                                                       gggATGCTCATCAGGCAGGTATAGGGCTCATTGCGGTCATGGCGGCGTTCGGGGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGaaa                                                    <  2:203462/147‑1 (MQ=255)                                                                                         gATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGa                                                  <  2:497763/149‑1 (MQ=255)                                                                                             cTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCCGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCTGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCg                                              <  1:540698/149‑1 (MQ=255)                                                                                                   aggcaggTATAGGGCCAATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGGACGTCCCTGCCGGTGTAATGACAGACGCTACCGGGCCACTGGTATTTGCCGGTGCAGTGGCGAAAGATTCggggcgc                                        >  1:115081/1‑145 (MQ=18)                                                                                                     gcaggTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAAt                                                                                                  >  2:238610/1‑89 (MQ=255)                                                                                                     gcaggTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAAt                                                                                                  <  1:238610/89‑1 (MQ=255)                                                                                                     gcaggTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAg                                      >  2:390018/1‑149 (MQ=255)                                                                                                               ggCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCGGGAACGTCCCTGCCGGTGGAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTTCAGTAGCGAAAGATTCGGGCCTCAGGTTGCTGGCg                            >  1:423323/1‑149 (MQ=18)                                                                                                               ggCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTCCCGTGCCCCTGGTATTTGCCGGTGCAGTAACGAAAGATTCGGGACTCAGGATTCTGGCg                            >  1:339656/1‑149 (MQ=18)                                                                                                               ggCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCg                            >  1:35205/1‑149 (MQ=255)                                                                                                                      tGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATc                     <  2:214658/149‑1 (MQ=255)                                                                                                                         gggccTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTc                  <  1:301833/146‑1 (MQ=255)                                                                                                                          gcccTGGGCGCGTGCGGCTTATAGCGCTTGGTCTCCGGCGATATCCTGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAGTCAAGCTGTTTGCAGGATGCTGGCGGTATATCGTCa                 <  2:352833/147‑1 (MQ=9)                                                                                                                                    cgTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCg       >  1:90880/1‑149 (MQ=255)                                                                                                                                         ggccgataCCGCTAGGACTCCGGCGAGATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTAc  <  1:503295/144‑1 (MQ=255)                                                                                                                                                  cgctAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGc                                                        >  1:510859/1‑86 (MQ=255)                                                                                                                                                     |                                                                                                                                         GACGGGCTCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCGAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTAC  >  NC_000913_3_hsa_tpiA/263950‑264234

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑