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Detailed information for vg1223515576:

Variant ID: vg1223515576 (JBrowse)Variation Type: INDEL
Chromosome: chr12Position: 23515576
Reference Allele: TAlternative Allele: TA
Primary Allele: TSecondary Allele: TA

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 1.00, others allele: 0.00, population size: 127. )

Flanking Sequence (100 bp) in Reference Genome:


CACCACCACCACCACTACTGCAACCACTGTCCTAGGTGTTGCACCTGAGAAGGGGTATGATATCTCTGAATCTTTTCACTGATAAAAAACTTCACTGAAG[T/TA]
AAAAAAAATCCTACCTGAGATTCAGACATGAACAATATGCTGTGATCTACATCTTTCCATGCCTGAAACTGTTCGTTTCTGAATTTGCCTTGTTGATTTG

Reverse complement sequence

CAAATCAACAAGGCAAATTCAGAAACGAACAGTTTCAGGCATGGAAAGATGTAGATCACAGCATATTGTTCATGTCTGAATCTCAGGTAGGATTTTTTTT[A/TA]
CTTCAGTGAAGTTTTTTATCAGTGAAAAGATTCAGAGATATCATACCCCTTCTCAGGTGCAACACCTAGGACAGTGGTTGCAGTAGTGGTGGTGGTGGTG

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of TA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 96.60% 3.40% 0.00% 0.00% NA
All Indica  2759 94.70% 5.30% 0.00% 0.00% NA
All Japonica  1512 99.70% 0.30% 0.00% 0.00% NA
Aus  269 97.00% 3.00% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 79.60% 20.40% 0.00% 0.00% NA
Indica III  913 99.70% 0.30% 0.00% 0.00% NA
Indica Intermediate  786 93.80% 6.20% 0.00% 0.00% NA
Temperate Japonica  767 99.60% 0.40% 0.00% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 97.80% 2.20% 0.00% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1223515576 T -> TA LOC_Os12g38310.1 upstream_gene_variant ; 1075.0bp to feature; MODIFIER silent_mutation Average:74.477; most accessible tissue: Minghui63 root, score: 90.186 N N N N
vg1223515576 T -> TA LOC_Os12g38280.1 downstream_gene_variant ; 4996.0bp to feature; MODIFIER silent_mutation Average:74.477; most accessible tissue: Minghui63 root, score: 90.186 N N N N
vg1223515576 T -> TA LOC_Os12g38290.1 downstream_gene_variant ; 2100.0bp to feature; MODIFIER silent_mutation Average:74.477; most accessible tissue: Minghui63 root, score: 90.186 N N N N
vg1223515576 T -> TA LOC_Os12g38320.1 downstream_gene_variant ; 4391.0bp to feature; MODIFIER silent_mutation Average:74.477; most accessible tissue: Minghui63 root, score: 90.186 N N N N
vg1223515576 T -> TA LOC_Os12g38300.1 intron_variant ; MODIFIER silent_mutation Average:74.477; most accessible tissue: Minghui63 root, score: 90.186 N N N N

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)
vg1223515576 T TA -0.02 0.01 0.02 0.03 0.01 -0.01