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Detailed information for vg0100924740:

Variant ID: vg0100924740 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 924740
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.99, C: 0.01, others allele: 0.00, population size: 250. )

Flanking Sequence (100 bp) in Reference Genome:


TTATCATGTTCTGGACAGGACACCATCCTGTATCACCCAGTTCTAGGCTCCTGCAAGGTGACTGCAATATCTTACAAGCATGCTGCCATGTCCATCATCC[T/C]
GCTTGTAGATTCCACACCTCACTGCCCACTTCAGAAGCTCATCTCGACAAATTTATCAACTGATGTGTACAAACCTCAAAAATTGGAAGCTGCAAGCTTA

Reverse complement sequence

TAAGCTTGCAGCTTCCAATTTTTGAGGTTTGTACACATCAGTTGATAAATTTGTCGAGATGAGCTTCTGAAGTGGGCAGTGAGGTGTGGAATCTACAAGC[A/G]
GGATGATGGACATGGCAGCATGCTTGTAAGATATTGCAGTCACCTTGCAGGAGCCTAGAACTGGGTGATACAGGATGGTGTCCTGTCCAGAACATGATAA

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 62.00% 0.80% 2.64% 34.53% NA
All Indica  2759 71.10% 0.60% 2.65% 25.59% NA
All Japonica  1512 48.00% 1.10% 2.31% 48.54% NA
Aus  269 55.80% 1.10% 4.83% 38.29% NA
Indica I  595 44.00% 2.20% 8.40% 45.38% NA
Indica II  465 94.40% 0.00% 0.00% 5.59% NA
Indica III  913 72.50% 0.00% 0.11% 27.38% NA
Indica Intermediate  786 76.30% 0.50% 2.80% 20.36% NA
Temperate Japonica  767 71.30% 1.20% 1.96% 25.55% NA
Tropical Japonica  504 10.90% 1.00% 3.57% 84.52% NA
Japonica Intermediate  241 51.50% 1.20% 0.83% 46.47% NA
VI/Aromatic  96 35.40% 0.00% 1.04% 63.54% NA
Intermediate  90 64.40% 1.10% 3.33% 31.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0100924740 T -> DEL LOC_Os01g02710.1 N frameshift_variant Average:80.331; most accessible tissue: Zhenshan97 flag leaf, score: 95.842 N N N N
vg0100924740 T -> C LOC_Os01g02710.1 missense_variant ; p.Leu97Pro; MODERATE nonsynonymous_codon ; L97P Average:80.331; most accessible tissue: Zhenshan97 flag leaf, score: 95.842 unknown unknown TOLERATED 0.72

Effects Predicted by Deep Convolutional Neural Networks

For each variant, we constructed two sequences that contain the variation site and the sequence around it, differing only in the variation site. We then used Basenji to predict the chromatin accessibility of each tissue for the two sequences, respectively, and scored the effect of the variant by comparing the changes in chromatin accessibility corresponding to the two genotypes in the 1 kb region around the variation site. The effect score was defined as the logarithmic ratio of the predicted chromatin accessibility of the alternative genotype to the value of the reference genotype.

Var ID Ref Alt Root (RT) Young Leaf (YL) Flag Leaf (FL) Young Panicle (YP) Lemma & Palea (LP) Stamen & Pistil (SP)
vg0100924740 T C -0.01 0.0 0.0 -0.02 -0.02 -0.02