Chr
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chr1
chr2
chr3
chr4
chr5
chr6
chr7
chr8
chr9
chr10
chr11
chr12
chr13
chr14
chr15
chr16
chr17
chr18
chr19
chr20
chr21
chr22
chrX
chrY
Chromosome name (e.g., chr11).
Tissue
Select Tissue
Adipose_Subcutaneous
Adipose_Visceral_Omentum
Adrenal_Gland
Artery_Aorta
Artery_Coronary
Artery_Tibial
Bladder
Brain_Amygdala
Brain_Anterior_cingulate_cortex_BA24
Brain_Caudate_basal_ganglia
Brain_Cerebellar_Hemisphere
Brain_Cerebellum
Brain_Cortex
Brain_Frontal_Cortex_BA9
Brain_Hippocampus
Brain_Hypothalamus
Brain_Nucleus_accumbens_basal_ganglia
Brain_Putamen_basal_ganglia
Brain_Spinal_cord_cervical_c-1
Brain_Substantia_nigra
Breast_Mammary_Tissue
Cells_Cultured_fibroblasts
Cells_EBV-transformed_lymphocytes
Colon_Sigmoid
Colon_Transverse
Esophagus_Gastroesophageal_Junction
Esophagus_Mucosa
Esophagus_Muscularis
Heart_Atrial_Appendage
Heart_Left_Ventricle
Kidney_Cortex
Liver
Lung
Minor_Salivary_Gland
Muscle_Skeletal
Nerve_Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin_Not_Sun_Exposed_Suprapubic
Skin_Sun_Exposed_Lower_leg
Small_Intestine_Terminal_Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole_Blood
GTEx tissue type for expression analysis.
Snpeff annotation impact
Select Snpeff annotation impact
HIGH
LOW
MODERATE
MODIFIER
Impact severity level (e.g., HIGH, MODERATE, LOW, MODIFIER).
Snpeff annotation impact detail
Select Snpeff annotation impact detail
intron_variant:30996327
upstream_gene_variant:5877690
downstream_gene_variant:5858788
3_prime_UTR_variant:1555971
synonymous_variant:527571
missense_variant:464268
5_prime_UTR_variant:198870
splice_region_variant&intron_variant:89713
5_prime_UTR_premature_start_codon_gain_variant:32907
splice_region_variant&synonymous_variant:11277
missense_variant&splice_region_variant:8867
splice_region_variant:5356
disruptive_inframe_deletion:3509
stop_gained:3066
frameshift_variant:2947
conservative_inframe_deletion:1765
disruptive_inframe_insertion:1748
splice_donor_variant&intron_variant:1658
conservative_inframe_insertion:1480
splice_acceptor_variant&intron_variant:1214
stop_retained_variant:942
start_lost:523
splice_acceptor_variant&splice_region_variant&intron_variant:462
stop_lost:359
frameshift_variant&splice_region_variant:237
frameshift_variant&stop_gained:169
splice_acceptor_variant&5_prime_UTR_variant&intron_variant:71
splice_donor_variant&splice_region_variant&intron_variant:59
disruptive_inframe_deletion&splice_region_variant:50
start_lost&splice_region_variant:43
stop_gained&splice_region_variant:35
frameshift_variant&start_lost:29
frameshift_variant&stop_lost:20
frameshift_variant&splice_donor_variant&splice_region_variant&intron_variant:13
start_retained_variant:9
stop_gained&conservative_inframe_insertion:9
initiator_codon_variant:8
intragenic_variant:7
stop_lost&splice_region_variant:6
splice_acceptor_variant&splice_region_variant&5_prime_UTR_variant&intron_variant:4
disruptive_inframe_insertion&splice_region_variant:1
frameshift_variant&splice_acceptor_variant&splice_region_variant&intron_variant:1
splice_donor_variant&5_prime_UTR_variant&intron_variant:1
Detailed annotation impact classification.
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Please provide at least one search criterion: genename, regionname, pos, snpeff annotation impact, or tissue.