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Configure Tracks on UCSC Genome Browser: Human Feb. 2009 (GRCh37/hg19)
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-   Mapping and Sequencing    
Base Position Chromosome position in bases. (Clicks here zoom in 3x)
Assembly Assembly from Fragments
BAC End Pairs BAC End Pairs
BU ORChID ORChID Predicted DNA Cleavage Sites from ENCODE/Boston Univ (Tullius lab)
Chromosome Band Chromosome Bands Localized by FISH Mapping Clones
deCODE Recomb deCODE Recombination maps, 10Kb bin size, October 2010
ENCODE Pilot Regions Used for ENCODE Pilot Project (1%)
Exome Probesets Exome Capture Probesets and Targeted Region
FISH Clones Clones Placed on Cytogenetic Map Using FISH
Fosmid End Pairs Fosmid End Pairs
Gap Gap Locations
GC Percent GC Percent in 5-Base Windows
GRC Incident GRC Incident Database
GRC Map Contigs Genome Reference Consortium Map Contigs
p14 GRC Patches GRC Patches: Alt Haplotypes and Fix Sequences
Hg18 Diff Contigs New to GRCh37/(hg19), Not Carried Forward from NCBI Build 36(hg18)
Hg38 Diff Contigs Dropped or Changed from GRCh37(hg19) to GRCh38(hg38)
Hi Seq Depth Regions of Exceptionally High Depth of Aligned Short Reads
INSDC Accession at INSDC - International Nucleotide Sequence Database Collaboration
liftOver & ReMap UCSC LiftOver and NCBI ReMap: Genome alignments to convert annotations to hg38
LRG Regions Locus Reference Genomic (LRG) / RefSeqGene Sequences Mapped to Feb. 2009 (GRCh37/hg19) Assembly
Map Contigs Physical Map Contigs
Mappability Mappability or Uniqueness of Reference Genome from ENCODE
Problematic Regions Problematic Regions for NGS or Sanger sequencing or very variable regions
Recomb Rate Recombination Rate from deCODE, Marshfield, or Genethon Maps (deCODE default)
RefSeq Acc RefSeq Accession
Restr Enzymes Restriction Enzymes from REBASE
Short Match Perfect Matches to Short Sequence ()
STS Markers STS Markers on Genetic (blue) and Radiation Hybrid (black) Maps
+   Genes and Gene Predictions    
-   Phenotypes, Variants, and Literature    
OMIM Online Mendelian Inheritance in Man
     OMIM Cyto Loci     OMIM Cytogenetic Loci Phenotypes - Gene Unknown
     OMIM Genes     OMIM Gene Phenotypes - Dark Green Can Be Disease-causing
     OMIM Alleles     OMIM Allelic Variant Phenotypes
Publications Publications: Sequences in Scientific Articles
AlphaMissense AlphaMissense Score for all possible single-basepair mutations (zoom in for scores)
CADD 1.6 CADD 1.6 Score for all single-basepair mutations and selected insertions/deletions
     CADD 1.6 Ins     CADD 1.6 Score: Insertions - label is length of insertion
     CADD 1.6 Del     CADD 1.6 Score: Deletions - label is length of deletion
     CADD 1.6     CADD 1.6 Score for all possible single-basepair mutations (zoom in for scores)
CADD 1.7 CADD 1.7 Score for all single-basepair mutations and selected insertions/deletions
     CADD 1.7 Ins     CADD 1.7 Score: Insertions - label is length of insertion
     CADD 1.7 Del     CADD 1.7 Score: Deletions - label is length of deletion
     CADD 1.7     CADD 1.7 Score for all possible single-basepair mutations (zoom in for scores)
new CIViC CIViC - Expert & crowd-sourced cancer variant interpretation
ClinGen ClinGen curation activities (Dosage Sensitivity and Gene-Disease Validity)
ClinGen CNVs Clinical Genome Resource (ClinGen) CNVs
ClinVar Variants ClinVar Variants
Constraint scores Human constraint scores
     MTR All Data     MTR - Missense Tolerance Ratio Scores all annotations
     MTR Scores     MTR - Missense Tolerance Ratio Scores by base
     MetaDome All Data     MetaDome - Tolerance Landscape score all annotations
     MetaDome     MetaDome - Tolerance Landscape score
     HMC     HMC - Homologous Missense Constraint Score on PFAM domains
     JARVIS     JARVIS: score to prioritize non-coding regions for disease relevance
Coriell CNVs Coriell Cell Line Copy Number Variants
new COSMIC Catalogue of Somatic Mutations in Cancer V101
COSMIC Regions Catalogue of Somatic Mutations in Cancer V82
COVID Data Container of SARS-CoV-2 data
     COVID Rare Harmful Var     Rare variants underlying COVID-19 severity and susceptibility from the COVID Human Genetics Effort
     COVID GWAS v3     GWAS meta-analyses from the COVID-19 Host Genetics Initiative
     COVID GWAS v4     COVID risk variants from GWAS meta-analyses by the COVID-19 Host Genetics Initiative (Rel 4, Oct 2020)
DECIPHER DECIPHER
     DECIPHER Population CNVs     DECIPHER: Population CNVs
     DECIPHER SNVs     DECIPHER SNVs (not updated anymore - use the hg38 track)
     DECIPHER CNVs     DECIPHER CNVs (not updated anymore - use the hg38 track)
Deleteriousness Predictions Variant Deleteriousness / Variant Impact Prediction Scores
     BayesDel     BayesDel - deleteriousness meta-score
Development Delay Copy Number Variation Morbidity Map of Developmental Delay
Dosage Sensitivity pHaplo and pTriplo dosage sensitivity map from Collins et al 2022
GAD View Genetic Association Studies of Complex Diseases and Disorders
GenCC GenCC: The Gene Curation Coalition Annotations
Gene Interactions Protein Interactions from Curated Databases and Text-Mining
GeneReviews GeneReviews
GWAS Catalog NHGRI-EBI Catalog of Published Genome-Wide Association Studies
Haploinsufficiency Haploinsufficiency predictions for genes from DECIPHER
HGMD public Human Gene Mutation Database - Public Version Dec 2024
Lens Patents Lens PatSeq Patent Document Sequences
LOVD Variants LOVD: Leiden Open Variation Database Public Variants
MGI Mouse QTL MGI Mouse Quantitative Trait Loci Coarsely Mapped to Human
new MITOMAP MITOMAP: A human mitochondrial genome database
Orphanet Orphadata: Aggregated Data From Orphanet
PanelApp Genomics England PanelApp Diagnostics
Polygenic Risk Scores Polygenic Risk Scores
     PRS eMERGE     Polygenic Risk Scores from NHGRI Electronic Medical Records and Genomics (eMERGE) project
REVEL Scores REVEL Pathogenicity Score for single-base coding mutations (zoom for exact score)
RGD Human QTL Human Quantitative Trait Locus from RGD
RGD Rat QTL Rat Quantitative Trait Locus from RGD Coarsely Mapped to Human
SNPedia SNPedia
new Splicing Impact Splicing Impact Prediction Scores and Databases
     SpliceAI     SpliceAI: Splice Variant Prediction Score
     AbSplice Scores     Aberrant Splicing Prediction Scores
UniProt Variants UniProt/SwissProt Amino Acid Substitutions
updated Variants in Papers Genetic Variants mentioned in scientific publications
     Mastermind Variants     Genomenon Mastermind Variants extracted from full text publications
    new enGenome VarChat     enGenome VarChat: Literature match and variant's summary
     Avada Variants     Avada Variants extracted from full text publications
Web Sequences DNA Sequences in Web Pages Indexed by Bing.com / Microsoft Research
-   Variation    
dbSNP 155 Short Genetic Variants from dbSNP release 155
1000G Archive 1000 Genomes Archive
     1000G Ph3 Vars     1000 Genomes Phase 3 Integrated Variant Calls: SNVs, Indels, SVs
     1000G Ph3 Accsbl     1000 Genomes Project Phase 3 Paired-end Accessible Regions
     1000G Ph1 Vars     1000 Genomes Phase 1 Integrated Variant Calls: SNVs, Indels, SVs
     1000G Ph1 Accsbl     1000 Genomes Project Phase 1 Paired-end Accessible Regions
Array Probesets Microarray Probesets
dbSNP Archive dbSNP Track Archive
     Mult. SNPs(138)     Simple Nucleotide Polymorphisms (dbSNP 138) That Map to Multiple Genomic Loci
     Flagged SNPs(138)     Simple Nucleotide Polymorphisms (dbSNP 138) Flagged as Clinically Assoc
     Common SNPs(138)     Simple Nucleotide Polymorphisms (dbSNP 138) Found in >= 1% of Samples
     All SNPs(138)     Simple Nucleotide Polymorphisms (dbSNP 138)
     Flagged SNPs(141)     Simple Nucleotide Polymorphisms (dbSNP 141) Flagged by dbSNP as Clinically Assoc
     Common SNPs(141)     Simple Nucleotide Polymorphisms (dbSNP 141) Found in >= 1% of Samples
     All SNPs(141)     Simple Nucleotide Polymorphisms (dbSNP 141)
     Mult. SNPs(142)     Simple Nucleotide Polymorphisms (dbSNP 142) That Map to Multiple Genomic Loci
     Flagged SNPs(142)     Simple Nucleotide Polymorphisms (dbSNP 142) Flagged by dbSNP as Clinically Assoc
     Common SNPs(142)     Simple Nucleotide Polymorphisms (dbSNP 142) Found in >= 1% of Samples
     All SNPs(142)     Simple Nucleotide Polymorphisms (dbSNP 142)
     Mult. SNPs(144)     Simple Nucleotide Polymorphisms (dbSNP 144) That Map to Multiple Genomic Loci
     Flagged SNPs(144)     Simple Nucleotide Polymorphisms (dbSNP 144) Flagged by dbSNP as Clinically Assoc
     Common SNPs(144)     Simple Nucleotide Polymorphisms (dbSNP 144) Found in >= 1% of Samples
     All SNPs(144)     Simple Nucleotide Polymorphisms (dbSNP 144)
     Mult. SNPs(146)     Simple Nucleotide Polymorphisms (dbSNP 146) That Map to Multiple Genomic Loci
     Flagged SNPs(146)     Simple Nucleotide Polymorphisms (dbSNP 146) Flagged by dbSNP as Clinically Assoc
     Common SNPs(146)     Simple Nucleotide Polymorphisms (dbSNP 146) Found in >= 1% of Samples
     All SNPs(146)     Simple Nucleotide Polymorphisms (dbSNP 146)
     Mult. SNPs(147)     Simple Nucleotide Polymorphisms (dbSNP 147) That Map to Multiple Genomic Loci
     Flagged SNPs(147)     Simple Nucleotide Polymorphisms (dbSNP 147) Flagged by dbSNP as Clinically Assoc
     Common SNPs(147)     Simple Nucleotide Polymorphisms (dbSNP 147) Found in >= 1% of Samples
     All SNPs(147)     Simple Nucleotide Polymorphisms (dbSNP 147)
     Mult. SNPs(150)     Simple Nucleotide Polymorphisms (dbSNP 150) That Map to Multiple Genomic Loci
     Flagged SNPs(150)     Simple Nucleotide Polymorphisms (dbSNP 150) Flagged by dbSNP as Clinically Assoc
     Common SNPs(150)     Simple Nucleotide Polymorphisms (dbSNP 150) Found in >= 1% of Samples
     All SNPs(150)     Simple Nucleotide Polymorphisms (dbSNP 150)
     Mult. SNPs(151)     Simple Nucleotide Polymorphisms (dbSNP 151) That Map to Multiple Genomic Loci
     Flagged SNPs(151)     Simple Nucleotide Polymorphisms (dbSNP 151) Flagged by dbSNP as Clinically Assoc
     All SNPs(151)     Simple Nucleotide Polymorphisms (dbSNP 151)
     Common SNPs(151)     Simple Nucleotide Polymorphisms (dbSNP 151) Found in >= 1% of Samples
     dbSNP 153     Short Genetic Variants from dbSNP release 153
dbVar Common Struct Var NCBI Curated Common Structural Variants from dbVar
     dbVar Conflict SV     NCBI dbVar Curated Conflict Variants
     dbVar Common SV     NCBI dbVar Curated Common Structural Variants
new denovo-db denovo-db v.1.6.1
DGV Struct Var Database of Genomic Variants: Structural Variation (CNV, Inversion, In/del)
EVS Variants NHLBI GO Exome Sequencing Project (ESP) - Variants from 6,503 Exomes
ExAC Exome Aggregation Consortium (ExAC) Variants and Calling Regions
Genome In a Bottle Genome In a Bottle Structural Variants and Trios
Genome Variants Personal Genome Variants
GIS DNA PET ENCODE Genome Institute of Singapore DNA Paired-End Ditags
gnomAD Genome Aggregation Database (gnomAD) - Variants, Coverage, and Constraint
     gnomAD Structural Variants     Genome Aggregation Database (gnomAD) - Structural Variants
     gnomAD pext     gnomAD Proportion Expression Across Transcript Scores (pext)
     gnomAD Genomes Variants     Genome Aggregation Database (gnomAD) Genome Variants v2.1.1
     gnomAD Exomes Variants     Genome Aggregation Database (gnomAD) Exome Variants v2.1.1
     gnomAD Coverage     Genome Aggregation Database (gnomAD) - Genome and Exome Sample Coverage
     gnomAD Constraint Metrics     Genome Aggregation Database (gnomAD) - Predicted Constraint Metrics (pLI and Z-scores)
HAIB Genotype Genotype (CNV and SNP) by Illumina 1MDuo and CBS from ENCODE/HudsonAlpha
HapMap SNPs HapMap SNPs (rel27, merged Phase II + Phase III genotypes)
HGDP Allele Freq Human Genome Diversity Project SNP Population Allele Frequencies
Platinum Genomes Platinum genome variants
+   mRNA and EST    
-   Expression    
GTEx Gene V8 Gene Expression in 54 tissues from GTEx RNA-seq of 17382 samples, 948 donors (V8, Aug 2019)
Allen Brain Allen Brain Atlas Probes
Burge RNA-seq Burge Lab RNA-seq Aligned by GEM Mapper
CSHL Small RNA-seq Small RNA-seq from ENCODE/Cold Spring Harbor Lab
ENC Exon Array ENCODE Exon Array
     UW Affy Exon     Affymetrix Exon Array from ENCODE/University of Washington
     Duke Affy Exon     Affymetrix Exon Array from ENCODE/Duke
ENC ProtGeno ENCODE Proteogenomics
     UNC/BSU ProtGeno     Proteogenomics Hg19 Mapping from ENCODE/Univ. North Carolina/Boise State Univ.
     UNC/BSU ProtGenc     Proteogenomics Hg19 and GENCODE Mapping from ENCODE/Univ. North Carolina/Boise State Univ.
ENC RNA-seq ENCODE RNA-seq
     SYDH RNA-seq     RNA-seq from ENCODE/Stanford/Yale/USC/Harvard
     HAIB RNA-seq     RNA-seq from ENCODE/HAIB
     GIS RNA-seq     RNA-seq from ENCODE/Genome Institute of Singapore
     CSHL Long RNA-seq     Long RNA-seq from ENCODE/Cold Spring Harbor Lab
     Caltech RNA-seq     RNA-seq from ENCODE/Caltech
EPDnew Promoters Promoters from EPDnew human version 006
Affy Archive Affymetrix Archive
     Affy U133Plus2     Alignments of Affymetrix Consensus/Exemplars from HG-U133 Plus 2.0
     Affy U133     Alignments of Affymetrix Consensus/Exemplars from HG-U133
     Affy U95     Alignments of Affymetrix Consensus/Exemplars from HG-U95
     Affy RNA Loc     RNA Subcellular Localization by Tiling Microarray from ENCODE Affymetrix/CSHL
     Affy GNF1H     Alignments of Affymetrix Consensus/Exemplars from GNF1H
     Affy Exon Array     Affymetrix Human Exon Array Probes and Probesets
GIS RNA PET RNA Sub-cellular Localization by Paired-end diTag Sequencing from ENCODE/GIS
GNF Atlas 2 GNF Expression Atlas 2
GTEx Gene Gene Expression in 53 tissues from GTEx RNA-seq of 8555 samples (570 donors)
GTEx Transcript Transcript Expression in 53 tissues from GTEx RNA-seq of 8555 samples/570 donors
GWIPS-viz Riboseq Ribosome Profiling from GWIPS-viz
Illumina WG-6 Alignments of Illumina WG-6 3.0 Probe Set
PeptideAtlas Peptide sequences identified from MS spectra of 971 samples by PeptideAtlas
qPCR Primers Human (hg19) Whole Transcriptome qPCR Primers
RIKEN CAGE Loc RNA Subcellular CAGE Localization from ENCODE/RIKEN
Sestan Brain Sestan Lab Human Brain Atlas Microarrays
+   Regulation    
+   Comparative Genomics    
+   Neandertal Assembly and Analysis    
+   Denisova Assembly and Analysis    
-   Repeats    
RepeatMasker Repeating Elements by RepeatMasker
Interrupted Rpts Fragments of Interrupted Repeats Joined by RepeatMasker ID
Microsatellite Microsatellites - Di-nucleotide and Tri-nucleotide Repeats
NumtS Sequence Human NumtS mitochondrial sequence
Segmental Dups Duplications of >1000 Bases of Non-RepeatMasked Sequence
Self Alignment Human Chained Self Alignments
Simple Repeats Simple Tandem Repeats by TRF
WM + SDust Genomic Intervals Masked by WindowMasker + SDust