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Detailed information for vg0204868292:

Variant ID: vg0204868292 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 4868292
Reference Allele: AACGACGACGACGGCGAlternative Allele: A
Primary Allele: AACGACGACGACGGCGSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AAGCGGCGGCGGGCAGGTGTTCCGCCCCGTGCCGCGCCCCGGCGGCTTCGACGCCATCAGCGCGGCGGACGTCGTGCGGCCGCCGCGGCGGCGGGACGAC[AACGACGACGACGGCG/A]
ACGACGACCCGCTCACCTCGCTGTCCCTCTCCCTCTCCCTCCCGGGGTTCCACCACGACAGCGCGCGGAGCCACTTCCAGGAGCTCCCCTCCCCCTCCCG

Reverse complement sequence

CGGGAGGGGGAGGGGAGCTCCTGGAAGTGGCTCCGCGCGCTGTCGTGGTGGAACCCCGGGAGGGAGAGGGAGAGGGACAGCGAGGTGAGCGGGTCGTCGT[CGCCGTCGTCGTCGTT/T]
GTCGTCCCGCCGCCGCGGCGGCCGCACGACGTCCGCCGCGCTGATGGCGTCGAAGCCGCCGGGGCGCGGCACGGGGCGGAACACCTGCCCGCCGCCGCTT

Allele Frequencies:

Populations Population SizeFrequency of AACGACGACGACGGCG(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 79.70% 19.00% 1.16% 0.21% NA
All Indica  2759 65.40% 32.30% 1.99% 0.36% NA
All Japonica  1512 99.90% 0.10% 0.00% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 65.20% 31.80% 3.03% 0.00% NA
Indica II  465 72.30% 25.80% 1.94% 0.00% NA
Indica III  913 58.40% 38.90% 1.86% 0.88% NA
Indica Intermediate  786 69.60% 28.80% 1.40% 0.25% NA
Temperate Japonica  767 99.70% 0.30% 0.00% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 96.70% 3.30% 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
vg0204868292 AACGACGACGACGGCG -> A LOC_Os02g09480.1 inframe_deletion ; p.Asp188_Asp192del; MODERATE inframe_variant Average:93.958; most accessible tissue: Minghui63 panicle, score: 99.147 N N N N
vg0204868292 AACGACGACGACGGCG -> DEL LOC_Os02g09480.1 N frameshift_variant Average:93.958; most accessible tissue: Minghui63 panicle, score: 99.147 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)
vg0204868292 AACGA* A 0.19 0.03 -0.07 -0.01 0.02 -0.01