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| Type | ID | Version | Number of files | Size in bytes (total) | Summary |
|---|---|---|---|---|---|
| samocha_enrichment_background | enrichment/samocha_background | 0 | 4 | 1.38 MB | SamochaEtAl2014 Enrichment Background Model |
| gene_score | gene_properties/gene_scores/Iossifov_Wigler_PNAS_2015 | 0 | 7 | 7.8 MB | Probability of a gene to be associated with autism |
| gene_score | gene_properties/gene_scores/Iossifov_Wigler_PNAS_2015_new | 0 | 9 | 11.84 MB | Probability of a gene to be associated with autism |
| gene_score | gene_properties/gene_scores/LGD | 0 | 11 | 576.07 KB | Gene vulnerability/intolerance score based on the rare LGD variants |
| gene_score | gene_properties/gene_scores/LOEUF | 0 | 9 | 13.18 MB | Degree of intolerance to predicted Loss-of-Function (pLoF) variation |
| gene_score | gene_properties/gene_scores/RVIS | 0 | 13 | 505.9 KB | Residual Variation Intolerance Score |
| gene_score | gene_properties/gene_scores/SFARI_gene_score | 0 | 7 | 147.38 KB | SFARI gene score release 01-13-2021 |
| gene_score | gene_properties/gene_scores/SFARI_gene_score_2024_Q1 | 0 | 9 | 194.02 KB | SFARI gene score 2024 Q1 release |
| gene_score | gene_properties/gene_scores/Satterstrom_Buxbaum_Cell_2020 | 0 | 6 | 616.3 KB | TADA derived gene-autism association score |
| gene_score | gene_properties/gene_scores/new/RVIS | 0 | 13 | 1.55 MB | Residual Variation Intolerance Score |
| gene_score | gene_properties/gene_scores/new/Satterstrom_Buxbaum_Cell_2020 | 0 | 9 | 6.39 MB | TADA derived gene-autism association score |
| gene_score | gene_properties/gene_scores/new/pLI | 0 | 9 | 6.16 MB | Probability of Loss-of-Function Intolerance |
| gene_score | gene_properties/gene_scores/new/pNull | 0 | 17 | 6.22 MB | Probability of LoF tolerance |
| gene_score | gene_properties/gene_scores/new/pRec | 0 | 13 | 6.18 MB | Probability of recessive LoF sensitivity |
| gene_score | gene_properties/gene_scores/pLI | 0 | 7 | 904.03 KB | Probability of Loss-of-Function Intolerance |
| gene_score | gene_properties/gene_scores/pRec | 0 | 7 | 897.56 KB | Probability of biallelic loss-of-function intolerance |
| gene_set_collection | gene_properties/gene_sets/GO | 0 | 10 | 13.43 MB | GO (Gene Ontology) gene sets |
| gene_set_collection | gene_properties/gene_sets/GO_2024-06-17_release | 0 | 17 | 65.0 MB | GO terms 2024-06-17 release |
| gene_set_collection | gene_properties/gene_sets/GO_2025-07-22_release | 0 | 17 | 68.21 MB | GO terms 2025-07-22 release |
| gene_set_collection | gene_properties/gene_sets/MSigDB_curated/4.0 | 0 | 9 | 3.84 MB | MSigDB (Molecular Signatures Database) gene sets derived from a variety of curated sources |
| gene_set_collection | gene_properties/gene_sets/MSigDB_curated/7.3 | 0 | 9 | 4.72 MB | MSigDB (Molecular Signatures Database) gene sets derived from a variety of curated sources |
| gene_set_collection | gene_properties/gene_sets/MSigDB_curated/7.4 | 0 | 9 | 4.74 MB | MSigDB (Molecular Signatures Database) gene sets derived from a variety of curated sources |
| gene_set_collection | gene_properties/gene_sets/MSigDB_curated/7.5 | 0 | 9 | 4.8 MB | MSigDB (Molecular Signatures Database) gene sets derived from a variety of curated sources |
| gene_set_collection | gene_properties/gene_sets/PFAM_37.0_domains | 0 | 13 | 3.4 MB | PFAM 37.0 domains |
| gene_set_collection | gene_properties/gene_sets/autism | 0 | 13 | 32.38 KB | Autism gene sets derived from publications |
| gene_set_collection | gene_properties/gene_sets/disease | 0 | 9 | 206.37 KB | Gene-disease associations |
| gene_set_collection | gene_properties/gene_sets/gene2phenotype | 0 | 18 | 4.7 MB | gene2phenotype 28_08_2024 release |
| gene_set_collection | gene_properties/gene_sets/miRNA | 0 | 9 | 1.64 MB | miRNA target sets |
| gene_set_collection | gene_properties/gene_sets/miRNA_Darnell | 0 | 9 | 131.31 KB | miRNA target sets by Darnell |
| gene_set_collection | gene_properties/gene_sets/relevant | 0 | 21 | 137.64 KB | Variety of gene sets with potential relevance to autism |
| gene_set_collection | gene_properties/gene_sets/sfari | 0 | 17 | 38.22 KB | SFARI gene sets with relevance to autism |
| gene_set_collection | gene_properties/gene_sets/spark | 0 | 11 | 25.79 KB | SPARK gene sets with relevance to autism |
| gene_score | hg19/enrichment/coding_length_in_target_ref_gene_v20190211 | 0 | 7 | 127.85 KB | Coding length in target enrichment background using refGene gene models for HG19 from 20190211 |
| gene_score | hg19/enrichment/coding_length_ref_gene_v20190211 | 0 | 7 | 180.78 KB | Coding length enrichment background using refGene gene models for HG19 from 20190211 |
| gene_models | hg19/gene_models/ccds_v201309 | 0 | 5 | 2.56 MB | CCDS (Consensus CDS) gene model 2013 |
| gene_models | hg19/gene_models/knownGene_v201304 | 0 | 5 | 5.5 MB | knownGene gene model 2013 |
| gene_models | hg19/gene_models/refGeneMito_v201309 | 0 | 5 | 3.98 MB | RefGene gene model 2013 with mitochondrial genes |
| gene_models | hg19/gene_models/refGene_v201309 | 0 | 5 | 3.98 MB | RefGene gene model 2013 |
| gene_models | hg19/gene_models/refGene_v20190211 | 0 | 5 | 5.47 MB | RefGene gene model 2019 |
| genome | hg19/genomes/GATK_ResourceBundle_5777_b37_phiX174 | 0 | 92 | 2.94 GB | HG19 reference genome |
| allele_score | hg19/scores/AlphaMissense | 0 | 13 | 1.15 GB | Functional impact of mutations on protein function |
| allele_score | hg19/scores/CADD | 0 | 10 | 79.37 GB | CADD score for functional prediction of a SNP |
| position_score | hg19/scores/FitCons-i6-merged | 0 | 8 | 105.18 MB | fitCons (fitness consequences) score estimates selective pressure on genomic positions. |
| position_score | hg19/scores/FitCons2_E035 | 0 | 8 | 291.53 MB | FitCons2 score computed for the Primary haematopoietic stem cells (HSCs) (E035). |
| position_score | hg19/scores/FitCons2_E067 | 0 | 8 | 260.98 MB | Cell-type specific FitCons scores for Brain Angular Gyrus tissue (E067). |
| position_score | hg19/scores/FitCons2_E068 | 0 | 8 | 270.24 MB | Cell-type specific FitCons scores for Brain Anterior Caudate tissue (E068). |
| position_score | hg19/scores/FitCons2_E069 | 0 | 8 | 262.14 MB | Cell-type specific FitCons scores for Brain Cingulate Gyrus tissue (E069). |
| position_score | hg19/scores/FitCons2_E070 | 0 | 8 | 262.33 MB | Cell-type specific FitCons scores for Brain Germinal Matrix tissue (E070). |
| position_score | hg19/scores/FitCons2_E071 | 0 | 8 | 255.47 MB | Cell-type specific FitCons scores for Brain Hippocampus Middle tissue (E071). |
| position_score | hg19/scores/FitCons2_E072 | 0 | 8 | 257.62 MB | Cell-type specific FitCons scores for Brain Inferior Temporal Lobe tissue (E072). |
| position_score | hg19/scores/FitCons2_E073 | 0 | 8 | 266.96 MB | FitCons2 score computed for the Brain Dorsolateral Prefrontal Cortex (E073) tissue. |
| position_score | hg19/scores/FitCons2_E074 | 0 | 8 | 262.13 MB | Cell-type specific FitCons scores for Brain Substantia Nigra tissue (E074). |
| position_score | hg19/scores/FitCons2_E081 | 0 | 8 | 276.05 MB | Cell-type specific FitCons scores for Fetal Brain Male tissue (E081). |
| position_score | hg19/scores/FitCons2_E082 | 0 | 8 | 278.89 MB | Cell-type specific FitCons scores for Fetal Brain Female tissue (E082). |
| position_score | hg19/scores/Linsight | 0 | 6 | 1.3 GB | The likelihood of negative selection on noncoding sites |
| allele_score | hg19/scores/MPC | 0 | 9 | 2.26 GB | MPC (Missense badness, PolyPhen-2, and Constraint) is a composite score that predicts the impact of missense variants. |
| position_score | hg19/scores/fitCons2/E001 | 0 | 6 | 230.6 MB | Cell-type specific FitCons scores for ES-I3 Cells (E001) |
| position_score | hg19/scores/fitCons2/E002 | 0 | 6 | 234.05 MB | Cell-type specific FitCons scores for ES-WA7 Cells (E002) |
| position_score | hg19/scores/fitCons2/E003 | 0 | 6 | 231.79 MB | Cell-type specific FitCons scores for H1 Cells (E003) |
| position_score | hg19/scores/fitCons2/E004 | 0 | 6 | 220.58 MB | Cell-type specific FitCons scores for H1 BMP4 Derived Mesendoderm Cultured Cells (E004) |
| position_score | hg19/scores/fitCons2/E005 | 0 | 6 | 197.38 MB | Cell-type specific FitCons scores for H1 BMP4 Derived Trophoblast Cultured Cells (E005) |
| position_score | hg19/scores/fitCons2/E006 | 0 | 6 | 187.59 MB | Cell-type specific FitCons scores for H1 Derived Mesenchymal Stem Cells (E006) |
| position_score | hg19/scores/fitCons2/E007 | 0 | 6 | 219.95 MB | Cell-type specific FitCons scores for H1 Derived Neuronal Progenitor Cultured Cells (E007) |
| position_score | hg19/scores/fitCons2/E008 | 0 | 6 | 227.43 MB | Cell-type specific FitCons scores for H9 Cells (E008) |
| position_score | hg19/scores/fitCons2/E009 | 0 | 6 | 224.8 MB | Cell-type specific FitCons scores for H9 Derived Neuronal Progenitor Cultured Cells (E009) |
| position_score | hg19/scores/fitCons2/E010 | 0 | 6 | 214.44 MB | Cell-type specific FitCons scores for H9 Derived Neuron Cultured Cells (E010) |
| position_score | hg19/scores/fitCons2/E011 | 0 | 6 | 214.45 MB | Cell-type specific FitCons scores for hESC Derived CD184+ Endoderm Cultured Cells (E011) |
| position_score | hg19/scores/fitCons2/E012 | 0 | 6 | 229.97 MB | Cell-type specific FitCons scores for hESC Derived CD56+ Ectoderm Cultured Cells (E012) |
| position_score | hg19/scores/fitCons2/E013 | 0 | 6 | 216.21 MB | Cell-type specific FitCons scores for hESC Derived CD56+ Mesoderm Cultured Cells (E013) |
| position_score | hg19/scores/fitCons2/E014 | 0 | 6 | 227.54 MB | Cell-type specific FitCons scores for HUES48 Cells (E014) |
| position_score | hg19/scores/fitCons2/E015 | 0 | 6 | 230.71 MB | Cell-type specific FitCons scores for HUES6 Cells (E015) |
| position_score | hg19/scores/fitCons2/E016 | 0 | 6 | 225.76 MB | Cell-type specific FitCons scores for HUES64 Cells (E016) |
| position_score | hg19/scores/fitCons2/E017 | 0 | 6 | 218.4 MB | Cell-type specific FitCons scores for Liver (E017) |
| position_score | hg19/scores/fitCons2/E018 | 0 | 6 | 234.95 MB | Cell-type specific FitCons scores for iPS-15b Cells (E018) |
| position_score | hg19/scores/fitCons2/E019 | 0 | 6 | 237.22 MB | Cell-type specific FitCons scores for iPS-18 Cells (E019) |
| position_score | hg19/scores/fitCons2/E020 | 0 | 6 | 240.49 MB | Cell-type specific FitCons scores for iPS-20b Cells (E020) |
| position_score | hg19/scores/fitCons2/E021 | 0 | 6 | 214.32 MB | Cell-type specific FitCons scores for iPS DF 6.9 Cells (E021) |
| position_score | hg19/scores/fitCons2/E022 | 0 | 6 | 199.62 MB | Cell-type specific FitCons scores for iPS DF 19.11 Cells (E022) |
| position_score | hg19/scores/fitCons2/E023 | 0 | 6 | 214.67 MB | Cell-type specific FitCons scores for Mesenchymal Stem Cell Derived Adipocyte Cultured Cells (E023) |
| position_score | hg19/scores/fitCons2/E024 | 0 | 6 | 223.0 MB | Cell-type specific FitCons scores for ES-UCSF4 Cells (E024) |
| position_score | hg19/scores/fitCons2/E025 | 0 | 6 | 228.85 MB | Cell-type specific FitCons scores for Adipose Derived Mesenchymal Stem Cell Cultured Cells (E025) |
| position_score | hg19/scores/fitCons2/E026 | 0 | 6 | 212.77 MB | Cell-type specific FitCons scores for Bone Marrow Derived Cultured Mesenchymal Stem Cells (E026) |
| position_score | hg19/scores/fitCons2/E027 | 0 | 6 | 213.05 MB | Cell-type specific FitCons scores for Breast Myoepithelial Primary Cells (E027) |
| position_score | hg19/scores/fitCons2/E028 | 0 | 6 | 213.67 MB | Cell-type specific FitCons scores for Breast variant Human Mammary Epithelial Cells (vHMEC) (E028) |
| position_score | hg19/scores/fitCons2/E029 | 0 | 6 | 220.18 MB | Cell-type specific FitCons scores for Primary monocytes from peripheral blood (E029) |
| position_score | hg19/scores/fitCons2/E030 | 0 | 6 | 234.5 MB | Cell-type specific FitCons scores for Primary neutrophils from peripheral blood (E030) |
| position_score | hg19/scores/fitCons2/E031 | 0 | 6 | 263.52 MB | Cell-type specific FitCons scores for Primary B cells from cord blood (E031) |
| position_score | hg19/scores/fitCons2/E032 | 0 | 6 | 234.78 MB | Cell-type specific FitCons scores for Primary B cells from peripheral blood (E032) |
| position_score | hg19/scores/fitCons2/E033 | 0 | 6 | 252.22 MB | Cell-type specific FitCons scores for Primary T cells from cord blood (E033) |
| position_score | hg19/scores/fitCons2/E034 | 0 | 6 | 223.65 MB | Cell-type specific FitCons scores for Primary T cells from peripheral blood (E034) |
| position_score | hg19/scores/fitCons2/E035 | 0 | 6 | 233.55 MB | Cell-type specific FitCons scores for Primary hematopoietic stem cells (E035) |
| position_score | hg19/scores/fitCons2/E036 | 0 | 6 | 211.79 MB | Cell-type specific FitCons scores for Primary hematopoietic stem cells short term culture Cells (E036) |
| position_score | hg19/scores/fitCons2/E037 | 0 | 6 | 221.83 MB | Cell-type specific FitCons scores for Primary T helper memory cells from peripheral blood 2 (E037) |
| position_score | hg19/scores/fitCons2/E038 | 0 | 6 | 213.5 MB | Cell-type specific FitCons scores for Primary T helper naive cells from peripheral blood (E038) |
| position_score | hg19/scores/fitCons2/E039 | 0 | 6 | 231.12 MB | Cell-type specific FitCons scores for Primary T helper naive cells from peripheral blood (E039) |
| position_score | hg19/scores/fitCons2/E040 | 0 | 6 | 262.61 MB | Cell-type specific FitCons scores for Primary T helper memory cells from peripheral blood 1 (E040) |
| position_score | hg19/scores/fitCons2/E041 | 0 | 6 | 230.91 MB | Cell-type specific FitCons scores for Primary T helper cells PMA-I stimulated (E041) |
| position_score | hg19/scores/fitCons2/E042 | 0 | 6 | 240.82 MB | Cell-type specific FitCons scores for Primary T helper 17 cells PMA-I stimulated (E042) |
| position_score | hg19/scores/fitCons2/E043 | 0 | 6 | 247.45 MB | Cell-type specific FitCons scores for Primary T helper cells from peripheral blood (E043) |
| position_score | hg19/scores/fitCons2/E044 | 0 | 6 | 245.95 MB | Cell-type specific FitCons scores for Primary T regulatory cells from peripheral blood (E044) |
| position_score | hg19/scores/fitCons2/E045 | 0 | 6 | 235.57 MB | Cell-type specific FitCons scores for Primary T cells effector/memory enriched from peripheral blood (E045) |
| position_score | hg19/scores/fitCons2/E046 | 0 | 6 | 230.03 MB | Cell-type specific FitCons scores for Primary Natural Killer cells from peripheral blood (E046) |
| position_score | hg19/scores/fitCons2/E047 | 0 | 6 | 230.97 MB | Cell-type specific FitCons scores for Primary T CD8+ naive cells from peripheral blood (E047) |
| position_score | hg19/scores/fitCons2/E048 | 0 | 6 | 234.84 MB | Cell-type specific FitCons scores for Primary T CD8+ memory cells from peripheral blood (E048) |
| position_score | hg19/scores/fitCons2/E049 | 0 | 6 | 211.48 MB | Cell-type specific FitCons scores for Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells (E049) |
| position_score | hg19/scores/fitCons2/E050 | 0 | 6 | 210.32 MB | Cell-type specific FitCons scores for Primary hematopoietic stem cells G-CSF-mobilized Female (E050) |
| position_score | hg19/scores/fitCons2/E051 | 0 | 6 | 252.44 MB | Cell-type specific FitCons scores for Primary hematopoietic stem cells G-CSF-mobilized Male (E051) |
| position_score | hg19/scores/fitCons2/E052 | 0 | 6 | 223.16 MB | Cell-type specific FitCons scores for Muscle Satellite Cultured Cells (E052) |
| position_score | hg19/scores/fitCons2/E053 | 0 | 6 | 214.04 MB | Cell-type specific FitCons scores for Cortex derived primary cultured neurospheres (E053) |
| position_score | hg19/scores/fitCons2/E054 | 0 | 6 | 207.21 MB | Cell-type specific FitCons scores for Ganglion Eminence derived primary cultured neurospheres (E054) |
| position_score | hg19/scores/fitCons2/E055 | 0 | 6 | 212.6 MB | Cell-type specific FitCons scores for Foreskin Fibroblast Primary Cells skin01 (E055) |
| position_score | hg19/scores/fitCons2/E056 | 0 | 6 | 210.57 MB | Cell-type specific FitCons scores for Foreskin Fibroblast Primary Cells skin02 (E056) |
| position_score | hg19/scores/fitCons2/E057 | 0 | 6 | 212.04 MB | Cell-type specific FitCons scores for Foreskin Keratinocyte Primary Cells skin02 (E057) |
| position_score | hg19/scores/fitCons2/E058 | 0 | 6 | 213.35 MB | Cell-type specific FitCons scores for Foreskin Keratinocyte Primary Cells skin03 (E058) |
| position_score | hg19/scores/fitCons2/E059 | 0 | 6 | 213.1 MB | Cell-type specific FitCons scores for Foreskin Melanocyte Primary Cells skin01 (E059) |
| position_score | hg19/scores/fitCons2/E061 | 0 | 6 | 213.52 MB | Cell-type specific FitCons scores for Foreskin Melanocyte Primary Cells skin03 (E061) |
| position_score | hg19/scores/fitCons2/E062 | 0 | 6 | 204.92 MB | Cell-type specific FitCons scores for Primary mononuclear cells from peripheral blood (E062) |
| position_score | hg19/scores/fitCons2/E063 | 0 | 6 | 203.35 MB | Cell-type specific FitCons scores for Adipose Nuclei (E063) |
| position_score | hg19/scores/fitCons2/E065 | 0 | 6 | 211.95 MB | Cell-type specific FitCons scores for Aorta (E065) |
| position_score | hg19/scores/fitCons2/E066 | 0 | 6 | 221.49 MB | Cell-type specific FitCons scores for Liver (E066) |
| position_score | hg19/scores/fitCons2/E067 | 0 | 6 | 208.67 MB | Cell-type specific FitCons scores for Brain Angular Gyrus (E067) |
| position_score | hg19/scores/fitCons2/E068 | 0 | 6 | 214.79 MB | Cell-type specific FitCons scores for E68 Brain Anterior Caudate (E068) |
| position_score | hg19/scores/fitCons2/E069 | 0 | 6 | 209.34 MB | Cell-type specific FitCons scores for Brain Cingulate Gyrus (E069) |
| position_score | hg19/scores/fitCons2/E070 | 0 | 6 | 208.97 MB | Cell-type specific FitCons scores for Brain Germinal Matrix (E070) |
| position_score | hg19/scores/fitCons2/E071 | 0 | 6 | 203.49 MB | Cell-type specific FitCons scores for Brain Hippocampus Middle (E071) |
| position_score | hg19/scores/fitCons2/E072 | 0 | 6 | 206.07 MB | Cell-type specific FitCons scores for Brain Inferior Temporal Lobe (E072) |
| position_score | hg19/scores/fitCons2/E073 | 0 | 6 | 214.21 MB | Cell-type specific FitCons scores for Brain_Dorsolateral_Prefrontal_Cortex (E073) |
| position_score | hg19/scores/fitCons2/E074 | 0 | 6 | 209.33 MB | Cell-type specific FitCons scores for Brain Substantia Nigra (E074) |
| position_score | hg19/scores/fitCons2/E075 | 0 | 6 | 204.3 MB | Cell-type specific FitCons scores for Colonic Mucosa (E075) |
| position_score | hg19/scores/fitCons2/E076 | 0 | 6 | 231.19 MB | Cell-type specific FitCons scores for Colon Smooth Muscle (E076) |
| position_score | hg19/scores/fitCons2/E077 | 0 | 6 | 230.97 MB | Cell-type specific FitCons scores for Duodenum Mucosa (E077) |
| position_score | hg19/scores/fitCons2/E078 | 0 | 6 | 207.21 MB | Cell-type specific FitCons scores for Duodenum Smooth Muscle (E078) |
| position_score | hg19/scores/fitCons2/E079 | 0 | 6 | 198.02 MB | Cell-type specific FitCons scores for Esophagus (E079) |
| position_score | hg19/scores/fitCons2/E080 | 0 | 6 | 206.79 MB | Cell-type specific FitCons scores for Fetal Adrenal Gland (E080) |
| position_score | hg19/scores/fitCons2/E081 | 0 | 6 | 221.55 MB | Cell-type specific FitCons scores for Fetal Brain Male (E081) |
| position_score | hg19/scores/fitCons2/E082 | 0 | 6 | 223.59 MB | Cell-type specific FitCons scores for Fetal Brain Female (E082) |
| position_score | hg19/scores/fitCons2/E083 | 0 | 6 | 224.11 MB | Cell-type specific FitCons scores for Fetal Heart (E083) |
| position_score | hg19/scores/fitCons2/E084 | 0 | 6 | 225.24 MB | Cell-type specific FitCons scores for Fetal Intestine Large (E084) |
| position_score | hg19/scores/fitCons2/E085 | 0 | 6 | 229.31 MB | Cell-type specific FitCons scores for Fetal Intestine Small (E085) |
| position_score | hg19/scores/fitCons2/E086 | 0 | 6 | 231.56 MB | Cell-type specific FitCons scores for Fetal Kidney (E086) |
| position_score | hg19/scores/fitCons2/E087 | 0 | 6 | 226.19 MB | Cell-type specific FitCons scores for Pancreatic Islets (E087) |
| position_score | hg19/scores/fitCons2/E088 | 0 | 6 | 219.94 MB | Cell-type specific FitCons scores for Fetal Lung (E088) |
| position_score | hg19/scores/fitCons2/E089 | 0 | 6 | 209.56 MB | Cell-type specific FitCons scores for Fetal Muscle Trunk (E089) |
| position_score | hg19/scores/fitCons2/E090 | 0 | 6 | 205.42 MB | Cell-type specific FitCons scores for Fetal Muscle Leg (E090) |
| position_score | hg19/scores/fitCons2/E091 | 0 | 6 | 194.41 MB | Cell-type specific FitCons scores for Placenta (E091) |
| position_score | hg19/scores/fitCons2/E092 | 0 | 6 | 209.39 MB | Cell-type specific FitCons scores for Fetal Stomach (E092) |
| position_score | hg19/scores/fitCons2/E093 | 0 | 6 | 212.49 MB | Cell-type specific FitCons scores for Fetal Thymus (E093) |
| position_score | hg19/scores/fitCons2/E094 | 0 | 6 | 206.44 MB | Cell-type specific FitCons scores for Gastric (E094) |
| position_score | hg19/scores/fitCons2/E095 | 0 | 6 | 180.93 MB | Cell-type specific FitCons scores for E68 Left Ventricle (E095) |
| position_score | hg19/scores/fitCons2/E096 | 0 | 6 | 192.91 MB | Cell-type specific FitCons scores for Lung (E096) |
| position_score | hg19/scores/fitCons2/E097 | 0 | 6 | 218.9 MB | Cell-type specific FitCons scores for Ovary (E097) |
| position_score | hg19/scores/fitCons2/E098 | 0 | 6 | 206.07 MB | Cell-type specific FitCons scores for Pancreas (E098) |
| position_score | hg19/scores/fitCons2/E099 | 0 | 6 | 219.45 MB | Cell-type specific FitCons scores for Placenta Amnion (E099) |
| position_score | hg19/scores/fitCons2/E100 | 0 | 6 | 197.09 MB | Cell-type specific FitCons scores for Psoas Muscle (E100) |
| position_score | hg19/scores/fitCons2/E101 | 0 | 6 | 224.7 MB | Cell-type specific FitCons scores for Rectal Mucosa Donor 29 (E101) |
| position_score | hg19/scores/fitCons2/E102 | 0 | 6 | 220.15 MB | Cell-type specific FitCons scores for Rectal Mucosa Donor 31 (E102) |
| position_score | hg19/scores/fitCons2/E103 | 0 | 6 | 219.34 MB | Cell-type specific FitCons scores for Rectal Smooth Muscle (E103) |
| position_score | hg19/scores/fitCons2/E104 | 0 | 6 | 205.04 MB | Cell-type specific FitCons scores for Right Atrium (E104) |
| position_score | hg19/scores/fitCons2/E105 | 0 | 6 | 202.39 MB | Cell-type specific FitCons scores for Right Ventricle (E105) |
| position_score | hg19/scores/fitCons2/E106 | 0 | 6 | 225.57 MB | Cell-type specific FitCons scores for Sigmoid Colon (E106) |
| position_score | hg19/scores/fitCons2/E107 | 0 | 6 | 221.47 MB | Cell-type specific FitCons scores for Skeletal Muscle Male (E107) |
| position_score | hg19/scores/fitCons2/E108 | 0 | 6 | 223.37 MB | Cell-type specific FitCons scores for Skeletal Muscle Female (E108) |
| position_score | hg19/scores/fitCons2/E109 | 0 | 6 | 203.11 MB | Cell-type specific FitCons scores for Small Intestine (E109) |
| position_score | hg19/scores/fitCons2/E110 | 0 | 6 | 220.29 MB | Cell-type specific FitCons scores for Stomach Mucosa (E110) |
| position_score | hg19/scores/fitCons2/E111 | 0 | 6 | 205.23 MB | Cell-type specific FitCons scores for Stomach Smooth Muscle (E111) |
| position_score | hg19/scores/fitCons2/E112 | 0 | 6 | 219.86 MB | Cell-type specific FitCons scores for Thymus (E112) |
| position_score | hg19/scores/fitCons2/E113 | 0 | 6 | 219.14 MB | Cell-type specific FitCons scores for Spleen (E113) |
| position_score | hg19/scores/fitCons2/E114 | 0 | 6 | 214.49 MB | Cell-type specific FitCons scores for Fetal NH-A Astrocytes Primary Cells (E114) |
| position_score | hg19/scores/fitCons2/E115 | 0 | 6 | 214.29 MB | Cell-type specific FitCons scores for Dnd41 TCell Leukemia Cell Line (E115) |
| position_score | hg19/scores/fitCons2/E116 | 0 | 6 | 234.45 MB | Cell-type specific FitCons scores for GM12878 Lymphoblastoid Cells (E116) |
| position_score | hg19/scores/fitCons2/E117 | 0 | 6 | 212.66 MB | Cell-type specific FitCons scores for Monocytes-CD14+ RO01746 Primary Cells (E117) |
| position_score | hg19/scores/fitCons2/E118 | 0 | 6 | 213.16 MB | Cell-type specific FitCons scores for HepG2 Hepatocellular Carcinoma Cell Line (E118) |
| position_score | hg19/scores/fitCons2/E119 | 0 | 6 | 203.69 MB | Cell-type specific FitCons scores for HMEC Mammary Epithelial Primary Cells (E119) |
| position_score | hg19/scores/fitCons2/E120 | 0 | 6 | 232.41 MB | Cell-type specific FitCons scores for HSMM Skeletal Muscle Myoblasts Cells (E120) |
| position_score | hg19/scores/fitCons2/E121 | 0 | 6 | 214.79 MB | Cell-type specific FitCons scores for HSMM cell derived Skeletal Muscle Myotubes Cells (E121) |
| position_score | hg19/scores/fitCons2/E122 | 0 | 6 | 206.16 MB | Cell-type specific FitCons scores for HUVEC Umbilical Vein Endothelial Primary Cells (E122) |
| position_score | hg19/scores/fitCons2/E123 | 0 | 6 | 228.66 MB | Cell-type specific FitCons scores for K562 Leukemia Cells (E123) |
| position_score | hg19/scores/fitCons2/E124 | 0 | 6 | 228.02 MB | Cell-type specific FitCons scores for Monocytes-CD14+ RO01746 Primary Cells (E124) |
| position_score | hg19/scores/fitCons2/E125 | 0 | 6 | 224.44 MB | Cell-type specific FitCons scores for NH-A Astrocytes Primary Cells (E125) |
| position_score | hg19/scores/fitCons2/E126 | 0 | 6 | 221.34 MB | Cell-type specific FitCons scores for NHDF-Ad Adult Dermal Fibroblast Primary Cells (E126) |
| position_score | hg19/scores/fitCons2/E127 | 0 | 6 | 211.12 MB | Cell-type specific FitCons scores for NHEK-Epidermal Keratinocyte Primary Cells (E127) |
| position_score | hg19/scores/fitCons2/E128 | 0 | 6 | 208.33 MB | Cell-type specific FitCons scores for HSMM Skeletal Muscle Myoblasts Cells Amnion (E128) |
| position_score | hg19/scores/fitCons2/E129 | 0 | 6 | 227.88 MB | Cell-type specific FitCons scores for Osteoblast Primary Cells (E129) |
| position_score | hg19/scores/phastCons46/placentals | 0 | 6 | 20.18 GB | Conservation score based on the multiple alignment of 46 species using placental species |
| position_score | hg19/scores/phastCons46/primates | 0 | 6 | 20.18 GB | Conservation score based on the multiple alignment of 46 species using primate species |
| position_score | hg19/scores/phastCons46/vertebrates | 0 | 6 | 20.18 GB | Conservation score based on the multiple alignment of 46 species using vertebrate species |
| position_score | hg19/scores/phastCons46_placentals | 0 | 8 | 10.55 GB | phastCons46_placentals is a conservation score based on the placental mammal subset of species |
| position_score | hg19/scores/phastCons46_primates | 0 | 8 | 14.02 GB | phastCons46_primates is a conservation score based on the primates subset of species |
| position_score | hg19/scores/phastCons46_vertebrates | 0 | 8 | 10.81 GB | phastCons46_vertebrates is a conservation score based on a multiple alignments of 45 vertebrate genomes to the human genome. |
| position_score | hg19/scores/phyloP46/placentals | 0 | 6 | 8.02 GB | Conservation score based on the multiple alignment of 46 species using placental species |
| position_score | hg19/scores/phyloP46/primates | 0 | 6 | 20.18 GB | Conservation score based on the multiple alignment of 46 species using primate species |
| position_score | hg19/scores/phyloP46/vertebrates | 0 | 6 | 20.18 GB | Conservation score based on the multiple alignment of 46 species using vertebrate species |
| position_score | hg19/scores/phyloP46_placentals | 0 | 8 | 14.62 GB | phyloP (phylogenetic p-values) conservation score based on the multiple alignments of the placental mammal species |
| position_score | hg19/scores/phyloP46_primates | 0 | 8 | 10.81 GB | phyloP (phylogenetic p-values) conservation score based on the multiple alignments of the primate species |
| position_score | hg19/scores/phyloP46_vertebrates | 0 | 8 | 14.72 GB | phyloP (phylogenetic p-values) conservation score based on the multiple alignments of 46 vertebrate genomes |
| allele_score | hg19/variant_frequencies/gnomAD_v2.1.1/exomes | 0 | 32 | 959.45 MB | gnomAD exomes v2.1.1 variants build from ~260,000 whole exome samples published by the Broad Institute. |
| allele_score | hg19/variant_frequencies/gnomAD_v2.1.1/genomes | 0 | 31 | 12.27 GB | gnomAD genomes v2.1.1 variants build from ~32,000 whole genome sequencing samples published by the Broad Institute. |
| cnv_collection | hg38/cnv_collections/DGV | 0 | 10 | 414.62 MB | Database of Genomic Variants (DGV) CNV collection |
| cnv_collection | hg38/cnv_collections/Iossifov_Lab_SSC_AGRE_2021 | 0 | 11 | 135.89 KB | |
| cnv_collection | hg38/cnv_collections/Iossifov_Lab_SSC_AGRE_2021_new | 0 | 11 | 109.39 KB | De novo CNVs from SSC and AGRE WGS |
| cnv_collection | hg38/cnv_collections/SFARI_gene_CNV | 0 | 9 | 50.94 KB | SFARI_Gene CNV collection |
| cnv_collection | hg38/cnv_collections/dbVar | 0 | 11 | 43.41 MB | dbVar CNV collection |
| cnv_collection | hg38/cnv_collections/gnomAD.v4.1_Exome_CNV | 0 | 66 | 105.31 MB | gnomAD v4.1 Exome CNV collection |
| cnv_collection | hg38/cnv_collections/gnomAD.v4.1_Genome_SV | 0 | 66 | 12.2 GB | gnomAD v4.1 Genome SV collection |
| gene_score | hg38/enrichment/coding_length_encode_49_basic_pri | 0 | 7 | 393.04 KB | Coding length enrichment background based on GENCODE v49 basic PRI gene models for HG38 |
| gene_score | hg38/enrichment/coding_length_ref_gene_v20170601 | 0 | 7 | 178.22 KB | Coding length enrichment background based on refGene gene models for HG38 from 20170601 |
| gene_score | hg38/enrichment/ur_synonymous_AGRE_WG38_859 | 0 | 7 | 195.58 KB | Ultra rare synonymous enrichment background build from AGRE WGS CSHL. |
| gene_score | hg38/enrichment/ur_synonymous_AGRE_WGS_CSHL(1) | 1 | 7 | 195.12 KB | Ultra rare synonymous enrichment background build from AGRE WGS CSHL. |
| gene_score | hg38/enrichment/ur_synonymous_SFARI_SPARK_iWES_v3(1) | 1 | 7 | 219.2 KB | Ultra rare synonymous enrichment background build from SPARK iWES v2. |
| gene_score | hg38/enrichment/ur_synonymous_SFARI_SPARK_iWGS_v1_1(1) | 1 | 7 | 216.41 KB | Ultra rare synonymous enrichment background build from SPARK iWGS v1.1. |
| gene_score | hg38/enrichment/ur_synonymous_SFARI_SSC_WES_CSHL_liftover(1) | 1 | 7 | 117.58 KB | Ultra rare synonymous enrichment background build from SFARI SSC WES CSHL liftover. |
| gene_score | hg38/enrichment/ur_synonymous_SFARI_SSC_WGS_2 | 0 | 7 | 208.05 KB | Ultra rare synonymous enrichment background build from SFARI SSC WGS NYGC. |
| gene_score | hg38/enrichment/ur_synonymous_SFARI_SSC_WGS_2(1) | 1 | 7 | 209.8 KB | Ultra rare synonymous enrichment background build from SFARI SSC WGS NYGC. |
| gene_score | hg38/enrichment/ur_synonymous_SFARI_SSC_WGS_CSHL | 0 | 7 | 207.31 KB | Ultra rare synonymous enrichment background build from SFARI SSC WGS NYGC. |
| gene_score | hg38/enrichment/ur_synonymous_SFARI_SSC_WGS_CSHL(1) | 1 | 7 | 208.53 KB | Ultra rare synonymous enrichment background build from SFARI SSC WGS NYGC. |
| gene_score | hg38/enrichment/ur_synonymous_iWES_v1_1 | 0 | 7 | 214.97 KB | Ultra rare synonymous enrichment background build from SPARK iWES v1.1. |
| gene_score | hg38/enrichment/ur_synonymous_iWES_v2 | 0 | 7 | 218.02 KB | Ultra rare synonymous enrichment background build from SPARK iWES v2. |
| gene_score | hg38/enrichment/ur_synonymous_iWGS_v1_1 | 0 | 7 | 215.41 KB | Ultra rare synonymous enrichment background build from SPARK iWGS v1.1. |
| gene_score | hg38/enrichment/ur_synonymous_w1202s766e611_liftover | 0 | 7 | 200.49 KB | Ultra rare synonymous enrichment background build from SFARI SSC WES CSHL liftover. |
| gene_models | hg38/gene_models/GENCODE/34/basic/ALL | 0 | 8 | 36.64 MB | GENCODE 34, basic gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes) |
| gene_models | hg38/gene_models/GENCODE/34/basic/CHR | 0 | 8 | 33.62 MB | GENCODE 34, basic gene annotation on the reference chromosomes only |
| gene_models | hg38/gene_models/GENCODE/34/comprehensive/ALL | 0 | 8 | 60.26 MB | GENCODE 34, comprehensive gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes) |
| gene_models | hg38/gene_models/GENCODE/34/comprehensive/CHR | 0 | 8 | 55.62 MB | GENCODE 34, comprehensive gene annotation on the reference chromosomes only |
| gene_models | hg38/gene_models/GENCODE/34/comprehensive/PRI | 0 | 8 | 55.63 MB | GENCODE 34, comprehensive gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions |
| gene_models | hg38/gene_models/GENCODE/46/basic/ALL | 0 | 8 | 41.47 MB | GENCODE 46, basic gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes) |
| gene_models | hg38/gene_models/GENCODE/46/basic/CHR | 0 | 8 | 38.04 MB | GENCODE 46, basic gene annotation on the reference chromosomes only |
| gene_models | hg38/gene_models/GENCODE/46/basic/PRI | 0 | 8 | 38.05 MB | GENCODE 46, basic gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions |
| gene_models | hg38/gene_models/GENCODE/46/comprehensive/ALL | 0 | 8 | 69.71 MB | GENCODE 46, comprehensive gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes) |
| gene_models | hg38/gene_models/GENCODE/46/comprehensive/CHR | 0 | 8 | 64.42 MB | GENCODE 46, comprehensive gene annotation on the reference chromosomes only |
| gene_models | hg38/gene_models/GENCODE/46/comprehensive/PRI | 0 | 8 | 64.44 MB | GENCODE 46, comprehensive gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions |
| gene_models | hg38/gene_models/GENCODE/47/basic/ALL | 0 | 8 | 46.74 MB | GENCODE 47, basic gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes) |
| gene_models | hg38/gene_models/GENCODE/47/basic/CHR | 0 | 8 | 43.25 MB | GENCODE 47, basic gene annotation on the reference chromosomes only |
| gene_models | hg38/gene_models/GENCODE/47/basic/PRI | 0 | 6 | 11.13 MB | GENCODE 47, basic gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions |
| gene_models | hg38/gene_models/GENCODE/47/comprehensive/ALL | 0 | 8 | 82.36 MB | GENCODE 47, comprehensive gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes) |
| gene_models | hg38/gene_models/GENCODE/47/comprehensive/CHR | 0 | 8 | 76.9 MB | GENCODE 47, comprehensive gene annotation on the reference chromosomes only |
| gene_models | hg38/gene_models/GENCODE/47/comprehensive/PRI | 0 | 8 | 77.09 MB | GENCODE 47, comprehensive gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions |
| gene_models | hg38/gene_models/GENCODE/48/basic/ALL | 0 | 8 | 46.76 MB | GENCODE 48, basic gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes) |
| gene_models | hg38/gene_models/GENCODE/48/basic/CHR | 0 | 8 | 43.24 MB | GENCODE 48, basic gene annotation on the reference chromosomes only |
| gene_models | hg38/gene_models/GENCODE/48/basic/PRI | 0 | 8 | 43.31 MB | GENCODE 48, basic gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions |
| gene_models | hg38/gene_models/GENCODE/48/comprehensive/ALL | 0 | 8 | 82.36 MB | GENCODE 48, comprehensive gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes) |
| gene_models | hg38/gene_models/GENCODE/48/comprehensive/CHR | 0 | 8 | 76.87 MB | GENCODE 48, comprehensive gene annotation on the reference chromosomes only |
| gene_models | hg38/gene_models/GENCODE/48/comprehensive/PRI | 0 | 8 | 77.07 MB | GENCODE 48, comprehensive gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions |
| gene_models | hg38/gene_models/GENCODE/49/basic/ALL | 0 | 8 | 83.97 MB | GENCODE 49, basic gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes) |
| gene_models | hg38/gene_models/GENCODE/49/basic/CHR | 0 | 8 | 80.45 MB | GENCODE 49, basic gene annotation on the reference chromosomes only |
| gene_models | hg38/gene_models/GENCODE/49/basic/PRI | 0 | 8 | 80.53 MB | GENCODE 49, basic gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions |
| gene_models | hg38/gene_models/GENCODE/49/comprehensive/ALL | 0 | 8 | 119.81 MB | GENCODE 49, comprehensive gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes) |
| gene_models | hg38/gene_models/GENCODE/49/comprehensive/CHR | 0 | 8 | 114.31 MB | GENCODE 49, comprehensive gene annotation on the reference chromosomes only |
| gene_models | hg38/gene_models/GENCODE/49/comprehensive/PRI | 0 | 8 | 114.51 MB | GENCODE 49, comprehensive gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions |
| gene_models | hg38/gene_models/MANE/0.5 | 0 | 8 | 5.51 MB | MANE gene model version 0.5 |
| gene_models | hg38/gene_models/MANE/0.6 | 0 | 8 | 6.09 MB | MANE gene model version 0.6 |
| gene_models | hg38/gene_models/MANE/0.7 | 0 | 8 | 6.43 MB | MANE gene model version 0.7 |
| gene_models | hg38/gene_models/MANE/0.8 | 0 | 8 | 6.94 MB | MANE gene model version 0.8 |
| gene_models | hg38/gene_models/MANE/0.9 | 0 | 8 | 7.48 MB | MANE gene model version 0.9 |
| gene_models | hg38/gene_models/MANE/0.91 | 0 | 8 | 8.39 MB | MANE gene model version 0.91 |
| gene_models | hg38/gene_models/MANE/0.92 | 0 | 8 | 8.71 MB | MANE gene model version 0.92 |
| gene_models | hg38/gene_models/MANE/0.93 | 0 | 8 | 9.18 MB | MANE gene model version 0.93 |
| gene_models | hg38/gene_models/MANE/0.95 | 0 | 8 | 9.65 MB | MANE gene model version 0.95 |
| gene_models | hg38/gene_models/MANE/1.0 | 0 | 8 | 9.92 MB | MANE gene model version 1.0 |
| gene_models | hg38/gene_models/MANE/1.1 | 0 | 8 | 10.82 MB | MANE gene model version 1.1 |
| gene_models | hg38/gene_models/MANE/1.2 | 0 | 8 | 10.86 MB | MANE gene model version 1.2 |
| gene_models | hg38/gene_models/MANE/1.3 | 0 | 8 | 10.88 MB | MANE gene model version 1.3 |
| gene_models | hg38/gene_models/MANE/1.4 | 0 | 8 | 10.89 MB | MANE gene model version 1.4 |
| gene_models | hg38/gene_models/refGene_v20170601 | 0 | 5 | 5.45 MB | refSeq gene models for HG38 from 20170601 |
| gene_models | hg38/gene_models/refSeq_v20200330 | 0 | 5 | 4.19 MB | refSeq gene models for HG38 from 2020-03 Default gene models used by GPF for HG38. |
| gene_models | hg38/gene_models/refSeq_v20240129 | 0 | 5 | 7.03 MB | refSeq gene models for HG38 from 2024-01-29 |
| genome | hg38/genomes/GRCh38-hg38 | 0 | 3374 | 3.04 GB | HG38 reference genome |
| genome | hg38/genomes/GRCh38.p13 | 0 | 646 | 3.09 GB | Nucleotide sequence of the GRCh38.p13 genome assembly |
| genome | hg38/genomes/GRCh38.p14 | 0 | 715 | 3.95 GB | Nucleotide sequence of the GRCh38.p14 genome assembly |
| allele_score | hg38/scores/AlphaMissense | 0 | 13 | 1.17 GB | Functional impact of mutations on protein function |
| allele_score | hg38/scores/CADD_v1.4 | 0 | 18 | 79.42 GB | CADD (Combined Annotation Dependent Depletion score) predicts the potential impact of a SNP |
| allele_score | hg38/scores/CADD_v1.6 | 0 | 12 | 80.65 GB | CADD (Combined Annotation Dependent Depletion score) predicts the potential impact of a SNP |
| allele_score | hg38/scores/CADD_v1.7 | 0 | 10 | 81.47 GB | CADD (Combined Annotation Dependent Depletion score) predicts the potential impact of a SNP |
| allele_score | hg38/scores/ClinVar_20240730 | 0 | 67 | 1.29 GB | Measure used to assess the clinical significance of genetic variants |
| allele_score | hg38/scores/ClinVar_20251019 | 0 | 67 | 479.63 MB | Measure used to assess the clinical significance of genetic variants |
| allele_score | hg38/scores/clinvar_20221105 | 0 | 44 | 115.28 MB | Measure used to assess the clinical significance of genetic variants |
| allele_score | hg38/scores/dbNSFP4.9a | 0 | 818 | 36.8 GB | dbNSFPv4.9a |
| allele_score | hg38/scores/dbSNP | 0 | 104 | 14.01 GB | dbSNP: A public database of genetic variations for research and clinical use. |
| position_score | hg38/scores/phastCons100way | 0 | 6 | 5.48 GB | Conservation score based on the multiple alignment of 100 species |
| position_score | hg38/scores/phastCons20way | 0 | 6 | 6.63 GB | Conservation score based on the multiple alignment of 20 species |
| position_score | hg38/scores/phastCons30way | 0 | 6 | 6.59 GB | Conservation score based on the multiple alignment of 30 species |
| position_score | hg38/scores/phastCons7way | 0 | 6 | 7.19 GB | Conservation score based on the multiple alignment of 7 species |
| position_score | hg38/scores/phyloP100way | 0 | 6 | 9.19 GB | Conservation score based on the multiple alignment of 100 species |
| position_score | hg38/scores/phyloP20way | 0 | 6 | 7.33 GB | Conservation score based on the multiple alignment of 20 species |
| position_score | hg38/scores/phyloP30way | 0 | 6 | 7.82 GB | Conservation score based on the multiple alignment of 30 species |
| position_score | hg38/scores/phyloP7way | 0 | 6 | 5.25 GB | Conservation score based on the multiple alignment of 7 species |
| allele_score | hg38/variant_frequencies/SSC_WG38_CSHL_2380 | 0 | 12 | 783.71 MB | Exported from SFARI_SSC_WGS_CSHL using `gpf_validation_data/data_hg38/exports/SFARI_SSC_WGS_CSHL_frequency`. |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/exomes/ALL | 0 | 14 | 1.32 GB | gnomAD v4.1.0 exome variants (ALL) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/exomes/afr | 0 | 14 | 172.93 MB | gnomAD v4.1.0 exome variants (African/African American) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/exomes/amr | 0 | 14 | 171.31 MB | gnomAD v4.1.0 exome variants (Ad Mixed American) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/exomes/asj | 0 | 14 | 56.02 MB | gnomAD v4.1.0 exome variants (Ashkenazi Jewish) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/exomes/eas | 0 | 14 | 149.25 MB | gnomAD v4.1.0 exome variants (East Asian) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/exomes/fin | 0 | 14 | 90.38 MB | gnomAD v4.1.0 exome variants (Finnish) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/exomes/mid | 0 | 14 | 62.78 MB | gnomAD v4.1.0 exome variants (Middle Eastern) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/exomes/nfe | 0 | 14 | 916.58 MB | gnomAD v4.1.0 exome variants (Non-Finnish European) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/exomes/sas | 0 | 14 | 277.15 MB | gnomAD v4.1.0 exome variants (South Asian) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/genomes/ALL | 0 | 14 | 10.47 GB | gnomAD v4.1.0 genome variants (ALL) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/genomes/afr | 0 | 14 | 5.98 GB | gnomAD v4.1.0 genome variants (African/African American) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/genomes/amr | 0 | 14 | 4.0 GB | gnomAD v4.1.0 genome variants (Ad Mixed American) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/genomes/asj | 0 | 14 | 2.27 GB | gnomAD v4.1.0 genome variants (Ashkenazi Jewish) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/genomes/eas | 0 | 14 | 3.03 GB | gnomAD v4.1.0 genome variants (East Asian) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/genomes/fin | 0 | 14 | 2.86 GB | gnomAD v4.1.0 genome variants (Finnish) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/genomes/mid | 0 | 14 | 1.93 GB | gnomAD v4.1.0 genome variants (Middle Eastern) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/genomes/nfe | 0 | 14 | 5.75 GB | gnomAD v4.1.0 genome variants (Non-Finnish European) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/genomes/sas | 0 | 14 | 3.04 GB | gnomAD v4.1.0 genome variants (South Asian) |
| allele_score | hg38/variant_frequencies/gnomAD_v2.1.1_liftover/exomes | 0 | 35 | 928.27 MB | Liftover of gnomAD exomes v2.1.1 to hg38. |
| allele_score | hg38/variant_frequencies/gnomAD_v2.1.1_liftover/genomes | 0 | 35 | 11.53 GB | Liftover of gnomAD genomes v2.1.1 to hg38. |
| allele_score | hg38/variant_frequencies/gnomAD_v3/genomes | 0 | 18 | 17.64 GB | gnomAD v3.0 variants built from ~150,000 samples with whole genome sequence data. |
| liftover_chain | liftover/T2T_to_hg19 | 0 | 3 | 2.07 MB | Liftover Chain T2T to Hg19 |
| liftover_chain | liftover/T2T_to_hg38 | 0 | 3 | 2.08 MB | Liftover Chain T2T to Hg38 |
| liftover_chain | liftover/hg19ToHg38 | 0 | 6 | 450.34 KB | Liftover Chain Hg19 to Hg38 |
| liftover_chain | liftover/hg19_to_T2T | 0 | 3 | 2.07 MB | Liftover Chain Hg19 to T2T |
| liftover_chain | liftover/hg19_to_hg38 | 0 | 6 | 450.34 KB | Liftover Chain Hg19 to Hg38 |
| liftover_chain | liftover/hg38ToHg19 | 0 | 6 | 2.4 MB | Liftover Chain Hg38 to Hg19 |
| liftover_chain | liftover/hg38_to_T2T | 0 | 3 | 2.08 MB | Liftover Chain Hg38 to T2T |
| liftover_chain | liftover/hg38_to_hg19 | 0 | 6 | 2.4 MB | Liftover Chain Hg38 to Hg19 |
| annotation_pipeline | pipeline/Autism_annotation | 0 | 3 | 3.86 KB | Autism Annotation Pipeline |
| annotation_pipeline | pipeline/Clinical_annotation | 0 | 3 | 2.37 KB | Clinical Annotation Pipeline |
| annotation_pipeline | pipeline/GPF-SFARI_annotation | 0 | 3 | 3.02 KB | GPF-SFARI Production Annotation Pipeline |
| annotation_pipeline | pipeline/Paper_pipeline | 0 | 3 | 1.87 KB | Annotation Pipeline used in the paper. |
| annotation_pipeline | pipeline/T2T_Clinical_annotation | 0 | 3 | 2.99 KB | Clinical Annotation Pipeline for T2T coordinates |
| annotation_pipeline | pipeline/hg19_Clinical_annotation | 0 | 3 | 2.54 KB | Clinical Annotation Pipeline for hg19 |
| annotation_pipeline | pipeline/hg38_Clinical_annotation | 0 | 3 | 2.41 KB | Clinical Annotation Pipeline for hg38 |
| gene_models | t2t/gene_models/ncbiRefSeq_110 | 0 | 12 | 45.3 MB | NCBI RefSeq 110, comprehensive gene annotation on the T2T-CHM13v2.0 assembly (gapless chromosomes, no alternate scaffolds). |
| genome | t2t/genomes/t2t-chm13v2.0 | 0 | 61 | 3.86 GB | Nucleotide sequence of the T2T-CHM13v2.0 genome assembly |