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| Typeunfold_more | IDunfold_more | Versionunfold_more | Total sizeunfold_more | Summaryunfold_more |
|---|---|---|---|---|
| gene_score | gene_properties/gene_scores/GTEx_V11_RNAexpression | 0 | 11.47 MB | Median gene-level expression (TPM) across GTEx v11 tissues. |
| gene_score | gene_properties/gene_scores/Iossifov_Wigler_PNAS_2015 | 0 | 11.82 MB | Probability of a gene to be associated with autism |
| gene_score | gene_properties/gene_scores/LGD | 0 | 2.18 MB | Gene vulnerability/intolerance score based on the rare LGD variants |
| gene_score | gene_properties/gene_scores/LOEUF | 0 | 13.21 MB | Degree of intolerance to predicted Loss-of-Function (pLoF) variation |
| gene_score | gene_properties/gene_scores/pLI | 0 | 6.2 MB | Probability of Loss-of-Function Intolerance |
| gene_score | gene_properties/gene_scores/pNull | 0 | 6.17 MB | Probability of LoF tolerance |
| gene_score | gene_properties/gene_scores/pRec | 0 | 6.16 MB | Probability of recessive LoF sensitivity |
| gene_score | gene_properties/gene_scores/RVIS | 0 | 1.5 MB | Residual Variation Intolerance Score |
| gene_score | gene_properties/gene_scores/Satterstrom_Buxbaum_Cell_2020 | 0 | 6.38 MB | TADA derived gene-autism association score |
| gene_score | gene_properties/gene_scores/SFARI_gene_score_2024_Q1 | 0 | 193.02 KB | SFARI gene score 2024 Q1 release |
| gene_set_collection | gene_properties/gene_sets/autism | 0 | 45.92 KB | Autism gene sets derived from publications |
| gene_set_collection | gene_properties/gene_sets/gene2phenotype | 0 | 4.72 MB | gene2phenotype 28_08_2024 release |
| gene_set_collection | gene_properties/gene_sets/GO_2024-06-17_release | 0 | 112.58 MB | GO terms 2024-06-17 release |
| gene_set_collection | gene_properties/gene_sets/GO_2025-07-22_release | 0 | 114.87 MB | GO terms 2025-07-22 release |
| gene_set_collection | gene_properties/gene_sets/MSigDB_curated/7.3 | 0 | 4.73 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 | 4.75 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 | 4.81 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 | 3.41 MB | PFAM 37.0 domains |
| gene_models | hg19/gene_models/ensGene_v20200110 | 0 | 35.83 MB | Ensembl Genes v20200110 |
| gene_models | hg19/gene_models/knownGene_v20240425 | 0 | 47.22 MB | UCSC Known Genes v20240425 |
| gene_models | hg19/gene_models/ncbiRefSeq_v20210517 | 0 | 24.07 MB | NCBI RefSeq v20210517 |
| gene_models | hg19/gene_models/refGene_v20190211 | 0 | 5.47 MB | RefGene gene model 2019 |
| gene_models | hg19/gene_models/refGene_v20200110 | 0 | 28.62 MB | UCSC RefGene v20200110 |
| genome | hg19/genomes/GATK_ResourceBundle_5777_b37_phiX174_chr | 0 | 751.68 MB | HG19 reference genome |
| genome | hg19/genomes/ucsc-hg19 | 0 | 908.52 MB | Nucleotide sequence of the GRCh37/hg19 genome assembly from UCSC |
| allele_score | hg19/scores/AlphaMissense | 0 | 1.15 GB | Functional impact of mutations on protein function |
| position_score | hg19/scores/FitCons-i6-merged | 0 | 107.61 MB | fitCons (fitness consequences) score estimates selective pressure on genomic positions. |
| position_score | hg19/scores/FitCons2/E001 | 0 | 232.15 MB | Cell-type specific FitCons scores for ES-I3 Cells (E001) |
| position_score | hg19/scores/FitCons2/E002 | 0 | 235.46 MB | Cell-type specific FitCons scores for ES-WA7 Cells (E002) |
| position_score | hg19/scores/FitCons2/E003 | 0 | 233.31 MB | Cell-type specific FitCons scores for H1 Cells (E003) |
| position_score | hg19/scores/FitCons2/E004 | 0 | 222.21 MB | Cell-type specific FitCons scores for H1 BMP4 Derived Mesendoderm Cultured Cells (E004) |
| position_score | hg19/scores/FitCons2/E005 | 0 | 199.37 MB | Cell-type specific FitCons scores for H1 BMP4 Derived Trophoblast Cultured Cells (E005) |
| position_score | hg19/scores/FitCons2/E006 | 0 | 189.7 MB | Cell-type specific FitCons scores for H1 Derived Mesenchymal Stem Cells (E006) |
| position_score | hg19/scores/FitCons2/E007 | 0 | 221.61 MB | Cell-type specific FitCons scores for H1 Derived Neuronal Progenitor Cultured Cells (E007) |
| position_score | hg19/scores/FitCons2/E008 | 0 | 228.99 MB | Cell-type specific FitCons scores for H9 Cells (E008) |
| position_score | hg19/scores/FitCons2/E009 | 0 | 226.47 MB | Cell-type specific FitCons scores for H9 Derived Neuronal Progenitor Cultured Cells (E009) |
| position_score | hg19/scores/FitCons2/E010 | 0 | 216.17 MB | Cell-type specific FitCons scores for H9 Derived Neuron Cultured Cells (E010) |
| position_score | hg19/scores/FitCons2/E011 | 0 | 216.12 MB | Cell-type specific FitCons scores for hESC Derived CD184+ Endoderm Cultured Cells (E011) |
| position_score | hg19/scores/FitCons2/E012 | 0 | 231.53 MB | Cell-type specific FitCons scores for hESC Derived CD56+ Ectoderm Cultured Cells (E012) |
| position_score | hg19/scores/FitCons2/E013 | 0 | 217.88 MB | Cell-type specific FitCons scores for hESC Derived CD56+ Mesoderm Cultured Cells (E013) |
| position_score | hg19/scores/FitCons2/E014 | 0 | 229.11 MB | Cell-type specific FitCons scores for HUES48 Cells (E014) |
| position_score | hg19/scores/FitCons2/E015 | 0 | 232.27 MB | Cell-type specific FitCons scores for HUES6 Cells (E015) |
| position_score | hg19/scores/FitCons2/E016 | 0 | 227.37 MB | Cell-type specific FitCons scores for HUES64 Cells (E016) |
| position_score | hg19/scores/FitCons2/E017 | 0 | 220.17 MB | Cell-type specific FitCons scores for Liver (E017) |
| position_score | hg19/scores/FitCons2/E018 | 0 | 236.4 MB | Cell-type specific FitCons scores for iPS-15b Cells (E018) |
| position_score | hg19/scores/FitCons2/E019 | 0 | 238.69 MB | Cell-type specific FitCons scores for iPS-18 Cells (E019) |
| position_score | hg19/scores/FitCons2/E020 | 0 | 241.96 MB | Cell-type specific FitCons scores for iPS-20b Cells (E020) |
| position_score | hg19/scores/FitCons2/E021 | 0 | 216.01 MB | Cell-type specific FitCons scores for iPS DF 6.9 Cells (E021) |
| position_score | hg19/scores/FitCons2/E022 | 0 | 201.48 MB | Cell-type specific FitCons scores for iPS DF 19.11 Cells (E022) |
| position_score | hg19/scores/FitCons2/E023 | 0 | 216.38 MB | Cell-type specific FitCons scores for Mesenchymal Stem Cell Derived Adipocyte Cultured Cells (E023) |
| position_score | hg19/scores/FitCons2/E024 | 0 | 224.61 MB | Cell-type specific FitCons scores for ES-UCSF4 Cells (E024) |
| position_score | hg19/scores/FitCons2/E025 | 0 | 230.5 MB | Cell-type specific FitCons scores for Adipose Derived Mesenchymal Stem Cell Cultured Cells (E025) |
| position_score | hg19/scores/FitCons2/E026 | 0 | 214.52 MB | Cell-type specific FitCons scores for Bone Marrow Derived Cultured Mesenchymal Stem Cells (E026) |
| position_score | hg19/scores/FitCons2/E027 | 0 | 214.76 MB | Cell-type specific FitCons scores for Breast Myoepithelial Primary Cells (E027) |
| position_score | hg19/scores/FitCons2/E028 | 0 | 215.31 MB | Cell-type specific FitCons scores for Breast variant Human Mammary Epithelial Cells (vHMEC) (E028) |
| position_score | hg19/scores/FitCons2/E029 | 0 | 221.8 MB | Cell-type specific FitCons scores for Primary monocytes from peripheral blood (E029) |
| position_score | hg19/scores/FitCons2/E030 | 0 | 235.91 MB | Cell-type specific FitCons scores for Primary neutrophils from peripheral blood (E030) |
| position_score | hg19/scores/FitCons2/E031 | 0 | 264.67 MB | Cell-type specific FitCons scores for Primary B cells from cord blood (E031) |
| position_score | hg19/scores/FitCons2/E032 | 0 | 235.96 MB | Cell-type specific FitCons scores for Primary B cells from peripheral blood (E032) |
| position_score | hg19/scores/FitCons2/E033 | 0 | 253.42 MB | Cell-type specific FitCons scores for Primary T cells from cord blood (E033) |
| position_score | hg19/scores/FitCons2/E034 | 0 | 225.19 MB | Cell-type specific FitCons scores for Primary T cells from peripheral blood (E034) |
| position_score | hg19/scores/FitCons2/E035 | 0 | 234.94 MB | Cell-type specific FitCons scores for Primary hematopoietic stem cells (E035) |
| position_score | hg19/scores/FitCons2/E036 | 0 | 213.55 MB | Cell-type specific FitCons scores for Primary hematopoietic stem cells short term culture Cells (E036) |
| position_score | hg19/scores/FitCons2/E037 | 0 | 223.41 MB | Cell-type specific FitCons scores for Primary T helper memory cells from peripheral blood 2 (E037) |
| position_score | hg19/scores/FitCons2/E038 | 0 | 215.14 MB | Cell-type specific FitCons scores for Primary T helper naive cells from peripheral blood (E038) |
| position_score | hg19/scores/FitCons2/E039 | 0 | 232.56 MB | Cell-type specific FitCons scores for Primary T helper naive cells from peripheral blood (E039) |
| position_score | hg19/scores/FitCons2/E040 | 0 | 263.83 MB | Cell-type specific FitCons scores for Primary T helper memory cells from peripheral blood 1 (E040) |
| position_score | hg19/scores/FitCons2/E041 | 0 | 232.34 MB | Cell-type specific FitCons scores for Primary T helper cells PMA-I stimulated (E041) |
| position_score | hg19/scores/FitCons2/E042 | 0 | 242.23 MB | Cell-type specific FitCons scores for Primary T helper 17 cells PMA-I stimulated (E042) |
| position_score | hg19/scores/FitCons2/E043 | 0 | 248.76 MB | Cell-type specific FitCons scores for Primary T helper cells from peripheral blood (E043) |
| position_score | hg19/scores/FitCons2/E044 | 0 | 247.24 MB | Cell-type specific FitCons scores for Primary T regulatory cells from peripheral blood (E044) |
| position_score | hg19/scores/FitCons2/E045 | 0 | 236.96 MB | Cell-type specific FitCons scores for Primary T cells effector/memory enriched from peripheral blood (E045) |
| position_score | hg19/scores/FitCons2/E046 | 0 | 231.54 MB | Cell-type specific FitCons scores for Primary Natural Killer cells from peripheral blood (E046) |
| position_score | hg19/scores/FitCons2/E047 | 0 | 232.44 MB | Cell-type specific FitCons scores for Primary T CD8+ naive cells from peripheral blood (E047) |
| position_score | hg19/scores/FitCons2/E048 | 0 | 236.25 MB | Cell-type specific FitCons scores for Primary T CD8+ memory cells from peripheral blood (E048) |
| position_score | hg19/scores/FitCons2/E049 | 0 | 213.28 MB | Cell-type specific FitCons scores for Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells (E049) |
| position_score | hg19/scores/FitCons2/E050 | 0 | 212.09 MB | Cell-type specific FitCons scores for Primary hematopoietic stem cells G-CSF-mobilized Female (E050) |
| position_score | hg19/scores/FitCons2/E051 | 0 | 253.54 MB | Cell-type specific FitCons scores for Primary hematopoietic stem cells G-CSF-mobilized Male (E051) |
| position_score | hg19/scores/FitCons2/E052 | 0 | 224.88 MB | Cell-type specific FitCons scores for Muscle Satellite Cultured Cells (E052) |
| position_score | hg19/scores/FitCons2/E053 | 0 | 215.73 MB | Cell-type specific FitCons scores for Cortex derived primary cultured neurospheres (E053) |
| position_score | hg19/scores/FitCons2/E054 | 0 | 208.97 MB | Cell-type specific FitCons scores for Ganglion Eminence derived primary cultured neurospheres (E054) |
| position_score | hg19/scores/FitCons2/E055 | 0 | 214.37 MB | Cell-type specific FitCons scores for Foreskin Fibroblast Primary Cells skin01 (E055) |
| position_score | hg19/scores/FitCons2/E056 | 0 | 212.35 MB | Cell-type specific FitCons scores for Foreskin Fibroblast Primary Cells skin02 (E056) |
| position_score | hg19/scores/FitCons2/E057 | 0 | 213.78 MB | Cell-type specific FitCons scores for Foreskin Keratinocyte Primary Cells skin02 (E057) |
| position_score | hg19/scores/FitCons2/E058 | 0 | 215.12 MB | Cell-type specific FitCons scores for Foreskin Keratinocyte Primary Cells skin03 (E058) |
| position_score | hg19/scores/FitCons2/E059 | 0 | 214.76 MB | Cell-type specific FitCons scores for Foreskin Melanocyte Primary Cells skin01 (E059) |
| position_score | hg19/scores/FitCons2/E061 | 0 | 215.25 MB | Cell-type specific FitCons scores for Foreskin Melanocyte Primary Cells skin03 (E061) |
| position_score | hg19/scores/FitCons2/E062 | 0 | 206.73 MB | Cell-type specific FitCons scores for Primary mononuclear cells from peripheral blood (E062) |
| position_score | hg19/scores/FitCons2/E063 | 0 | 204.99 MB | Cell-type specific FitCons scores for Adipose Nuclei (E063) |
| position_score | hg19/scores/FitCons2/E065 | 0 | 213.69 MB | Cell-type specific FitCons scores for Aorta (E065) |
| position_score | hg19/scores/FitCons2/E066 | 0 | 223.09 MB | Cell-type specific FitCons scores for Liver (E066) |
| position_score | hg19/scores/FitCons2/E067 | 0 | 210.28 MB | Cell-type specific FitCons scores for Brain Angular Gyrus (E067) |
| position_score | hg19/scores/FitCons2/E068 | 0 | 216.36 MB | Cell-type specific FitCons scores for E68 Brain Anterior Caudate (E068) |
| position_score | hg19/scores/FitCons2/E069 | 0 | 210.99 MB | Cell-type specific FitCons scores for Brain Cingulate Gyrus (E069) |
| position_score | hg19/scores/FitCons2/E070 | 0 | 210.68 MB | Cell-type specific FitCons scores for Brain Germinal Matrix (E070) |
| position_score | hg19/scores/FitCons2/E071 | 0 | 205.25 MB | Cell-type specific FitCons scores for Brain Hippocampus Middle (E071) |
| position_score | hg19/scores/FitCons2/E072 | 0 | 207.73 MB | Cell-type specific FitCons scores for Brain Inferior Temporal Lobe (E072) |
| position_score | hg19/scores/FitCons2/E073 | 0 | 215.8 MB | Cell-type specific FitCons scores for Brain_Dorsolateral_Prefrontal_Cortex (E073) |
| position_score | hg19/scores/FitCons2/E074 | 0 | 210.95 MB | Cell-type specific FitCons scores for Brain Substantia Nigra (E074) |
| position_score | hg19/scores/FitCons2/E075 | 0 | 206.12 MB | Cell-type specific FitCons scores for Colonic Mucosa (E075) |
| position_score | hg19/scores/FitCons2/E076 | 0 | 232.71 MB | Cell-type specific FitCons scores for Colon Smooth Muscle (E076) |
| position_score | hg19/scores/FitCons2/E077 | 0 | 232.57 MB | Cell-type specific FitCons scores for Duodenum Mucosa (E077) |
| position_score | hg19/scores/FitCons2/E078 | 0 | 208.89 MB | Cell-type specific FitCons scores for Duodenum Smooth Muscle (E078) |
| position_score | hg19/scores/FitCons2/E079 | 0 | 199.89 MB | Cell-type specific FitCons scores for Esophagus (E079) |
| position_score | hg19/scores/FitCons2/E080 | 0 | 208.59 MB | Cell-type specific FitCons scores for Fetal Adrenal Gland (E080) |
| position_score | hg19/scores/FitCons2/E081 | 0 | 223.14 MB | Cell-type specific FitCons scores for Fetal Brain Male (E081) |
| position_score | hg19/scores/FitCons2/E082 | 0 | 225.16 MB | Cell-type specific FitCons scores for Fetal Brain Female (E082) |
| position_score | hg19/scores/FitCons2/E083 | 0 | 225.72 MB | Cell-type specific FitCons scores for Fetal Heart (E083) |
| position_score | hg19/scores/FitCons2/E084 | 0 | 226.87 MB | Cell-type specific FitCons scores for Fetal Intestine Large (E084) |
| position_score | hg19/scores/FitCons2/E085 | 0 | 230.9 MB | Cell-type specific FitCons scores for Fetal Intestine Small (E085) |
| position_score | hg19/scores/FitCons2/E086 | 0 | 233.13 MB | Cell-type specific FitCons scores for Fetal Kidney (E086) |
| position_score | hg19/scores/FitCons2/E087 | 0 | 227.71 MB | Cell-type specific FitCons scores for Pancreatic Islets (E087) |
| position_score | hg19/scores/FitCons2/E088 | 0 | 221.61 MB | Cell-type specific FitCons scores for Fetal Lung (E088) |
| position_score | hg19/scores/FitCons2/E089 | 0 | 211.35 MB | Cell-type specific FitCons scores for Fetal Muscle Trunk (E089) |
| position_score | hg19/scores/FitCons2/E090 | 0 | 207.28 MB | Cell-type specific FitCons scores for Fetal Muscle Leg (E090) |
| position_score | hg19/scores/FitCons2/E091 | 0 | 196.39 MB | Cell-type specific FitCons scores for Placenta (E091) |
| position_score | hg19/scores/FitCons2/E092 | 0 | 211.2 MB | Cell-type specific FitCons scores for Fetal Stomach (E092) |
| position_score | hg19/scores/FitCons2/E093 | 0 | 214.25 MB | Cell-type specific FitCons scores for Fetal Thymus (E093) |
| position_score | hg19/scores/FitCons2/E094 | 0 | 208.24 MB | Cell-type specific FitCons scores for Gastric (E094) |
| position_score | hg19/scores/FitCons2/E095 | 0 | 183.0 MB | Cell-type specific FitCons scores for E68 Left Ventricle (E095) |
| position_score | hg19/scores/FitCons2/E096 | 0 | 194.91 MB | Cell-type specific FitCons scores for Lung (E096) |
| position_score | hg19/scores/FitCons2/E097 | 0 | 220.62 MB | Cell-type specific FitCons scores for Ovary (E097) |
| position_score | hg19/scores/FitCons2/E098 | 0 | 207.91 MB | Cell-type specific FitCons scores for Pancreas (E098) |
| position_score | hg19/scores/FitCons2/E099 | 0 | 220.97 MB | Cell-type specific FitCons scores for Placenta Amnion (E099) |
| position_score | hg19/scores/FitCons2/E100 | 0 | 199.0 MB | Cell-type specific FitCons scores for Psoas Muscle (E100) |
| position_score | hg19/scores/FitCons2/E101 | 0 | 226.36 MB | Cell-type specific FitCons scores for Rectal Mucosa Donor 29 (E101) |
| position_score | hg19/scores/FitCons2/E102 | 0 | 221.83 MB | Cell-type specific FitCons scores for Rectal Mucosa Donor 31 (E102) |
| position_score | hg19/scores/FitCons2/E103 | 0 | 221.02 MB | Cell-type specific FitCons scores for Rectal Smooth Muscle (E103) |
| position_score | hg19/scores/FitCons2/E104 | 0 | 206.88 MB | Cell-type specific FitCons scores for Right Atrium (E104) |
| position_score | hg19/scores/FitCons2/E105 | 0 | 204.24 MB | Cell-type specific FitCons scores for Right Ventricle (E105) |
| position_score | hg19/scores/FitCons2/E106 | 0 | 227.18 MB | Cell-type specific FitCons scores for Sigmoid Colon (E106) |
| position_score | hg19/scores/FitCons2/E107 | 0 | 223.07 MB | Cell-type specific FitCons scores for Skeletal Muscle Male (E107) |
| position_score | hg19/scores/FitCons2/E108 | 0 | 224.96 MB | Cell-type specific FitCons scores for Skeletal Muscle Female (E108) |
| position_score | hg19/scores/FitCons2/E109 | 0 | 204.97 MB | Cell-type specific FitCons scores for Small Intestine (E109) |
| position_score | hg19/scores/FitCons2/E110 | 0 | 221.91 MB | Cell-type specific FitCons scores for Stomach Mucosa (E110) |
| position_score | hg19/scores/FitCons2/E111 | 0 | 206.99 MB | Cell-type specific FitCons scores for Stomach Smooth Muscle (E111) |
| position_score | hg19/scores/FitCons2/E112 | 0 | 221.52 MB | Cell-type specific FitCons scores for Thymus (E112) |
| position_score | hg19/scores/FitCons2/E113 | 0 | 220.77 MB | Cell-type specific FitCons scores for Spleen (E113) |
| position_score | hg19/scores/FitCons2/E114 | 0 | 216.14 MB | Cell-type specific FitCons scores for Fetal NH-A Astrocytes Primary Cells (E114) |
| position_score | hg19/scores/FitCons2/E115 | 0 | 215.72 MB | Cell-type specific FitCons scores for Dnd41 TCell Leukemia Cell Line (E115) |
| position_score | hg19/scores/FitCons2/E116 | 0 | 235.9 MB | Cell-type specific FitCons scores for GM12878 Lymphoblastoid Cells (E116) |
| position_score | hg19/scores/FitCons2/E117 | 0 | 214.4 MB | Cell-type specific FitCons scores for Monocytes-CD14+ RO01746 Primary Cells (E117) |
| position_score | hg19/scores/FitCons2/E118 | 0 | 214.87 MB | Cell-type specific FitCons scores for HepG2 Hepatocellular Carcinoma Cell Line (E118) |
| position_score | hg19/scores/FitCons2/E119 | 0 | 205.52 MB | Cell-type specific FitCons scores for HMEC Mammary Epithelial Primary Cells (E119) |
| position_score | hg19/scores/FitCons2/E120 | 0 | 234.03 MB | Cell-type specific FitCons scores for HSMM Skeletal Muscle Myoblasts Cells (E120) |
| position_score | hg19/scores/FitCons2/E121 | 0 | 216.57 MB | Cell-type specific FitCons scores for HSMM cell derived Skeletal Muscle Myotubes Cells (E121) |
| position_score | hg19/scores/FitCons2/E122 | 0 | 208.01 MB | Cell-type specific FitCons scores for HUVEC Umbilical Vein Endothelial Primary Cells (E122) |
| position_score | hg19/scores/FitCons2/E123 | 0 | 230.25 MB | Cell-type specific FitCons scores for K562 Leukemia Cells (E123) |
| position_score | hg19/scores/FitCons2/E124 | 0 | 229.52 MB | Cell-type specific FitCons scores for Monocytes-CD14+ RO01746 Primary Cells (E124) |
| position_score | hg19/scores/FitCons2/E125 | 0 | 226.13 MB | Cell-type specific FitCons scores for NH-A Astrocytes Primary Cells (E125) |
| position_score | hg19/scores/FitCons2/E126 | 0 | 223.04 MB | Cell-type specific FitCons scores for NHDF-Ad Adult Dermal Fibroblast Primary Cells (E126) |
| position_score | hg19/scores/FitCons2/E127 | 0 | 212.94 MB | Cell-type specific FitCons scores for NHEK-Epidermal Keratinocyte Primary Cells (E127) |
| position_score | hg19/scores/FitCons2/E128 | 0 | 210.11 MB | Cell-type specific FitCons scores for HSMM Skeletal Muscle Myoblasts Cells Amnion (E128) |
| position_score | hg19/scores/FitCons2/E129 | 0 | 229.56 MB | Cell-type specific FitCons scores for Osteoblast Primary Cells (E129) |
| position_score | hg19/scores/Linsight | 0 | 1.3 GB | The likelihood of negative selection on noncoding sites |
| allele_score | hg19/scores/MPC | 0 | 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/phastCons46/placentals | 0 | 20.18 GB | Conservation score based on the multiple alignment of 46 species using placental species |
| position_score | hg19/scores/phastCons46/primates | 0 | 20.18 GB | Conservation score based on the multiple alignment of 46 species using primate species |
| position_score | hg19/scores/phastCons46/vertebrates | 0 | 20.18 GB | Conservation score based on the multiple alignment of 46 species using vertebrate species |
| position_score | hg19/scores/phyloP46/placentals | 0 | 8.02 GB | Conservation score based on the multiple alignment of 46 species using placental species |
| position_score | hg19/scores/phyloP46/primates | 0 | 20.18 GB | Conservation score based on the multiple alignment of 46 species using primate species |
| position_score | hg19/scores/phyloP46/vertebrates | 0 | 20.18 GB | Conservation score based on the multiple alignment of 46 species using vertebrate species |
| allele_score | hg19/variant_frequencies/gnomAD_v2.1.1/exomes | 0 | 959.76 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 | 12.27 GB | gnomAD genomes v2.1.1 variants build from ~32,000 whole genome sequencing samples published by the Broad Institute. |
| fragment_score | hg38/cnv_collections/dbVar | 0 | 46.88 MB | dbVar CNV collection |
| fragment_score | hg38/cnv_collections/DGV | 0 | 255.3 MB | Database of Genomic Variants (DGV) CNV collection |
| fragment_score | hg38/cnv_collections/gnomAD.v4.1_Exome_CNV | 0 | 95.86 MB | gnomAD v4.1 Exome CNV collection |
| fragment_score | hg38/cnv_collections/gnomAD.v4.1_Genome_SV | 0 | 11.96 GB | gnomAD v4.1 Genome SV collection |
| fragment_score | hg38/cnv_collections/Iossifov_Lab_SSC_AGRE_2021 | 0 | 169.54 KB | De novo CNVs from SSC and AGRE WGS |
| fragment_score | hg38/cnv_collections/SFARI_gene_CNV | 0 | 163.35 KB | SFARI_Gene CNV collection |
| gene_models | hg38/gene_models/ensGene_v20200110 | 0 | 36.1 MB | Ensembl Genes v20200110 |
| gene_models | hg38/gene_models/GENCODE/34/basic/ALL | 0 | 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 | 33.62 MB | GENCODE 34, basic gene annotation on the reference chromosomes only |
| gene_models | hg38/gene_models/GENCODE/34/comprehensive/ALL | 0 | 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 | 55.62 MB | GENCODE 34, comprehensive gene annotation on the reference chromosomes only |
| gene_models | hg38/gene_models/GENCODE/34/comprehensive/PRI | 0 | 55.64 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 | 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 | 38.04 MB | GENCODE 46, basic gene annotation on the reference chromosomes only |
| gene_models | hg38/gene_models/GENCODE/46/basic/PRI | 0 | 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 | 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 | 64.43 MB | GENCODE 46, comprehensive gene annotation on the reference chromosomes only |
| gene_models | hg38/gene_models/GENCODE/46/comprehensive/PRI | 0 | 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 | 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 | 43.25 MB | GENCODE 47, basic gene annotation on the reference chromosomes only |
| gene_models | hg38/gene_models/GENCODE/47/basic/PRI | 0 | 43.32 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 | 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 | 76.9 MB | GENCODE 47, comprehensive gene annotation on the reference chromosomes only |
| gene_models | hg38/gene_models/GENCODE/47/comprehensive/PRI | 0 | 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 | 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 | 43.24 MB | GENCODE 48, basic gene annotation on the reference chromosomes only |
| gene_models | hg38/gene_models/GENCODE/48/basic/PRI | 0 | 43.32 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 | 82.37 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 | 76.88 MB | GENCODE 48, comprehensive gene annotation on the reference chromosomes only |
| gene_models | hg38/gene_models/GENCODE/48/comprehensive/PRI | 0 | 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 | 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 | 80.46 MB | GENCODE 49, basic gene annotation on the reference chromosomes only |
| gene_models | hg38/gene_models/GENCODE/49/basic/PRI | 0 | 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 | 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 | 114.32 MB | GENCODE 49, comprehensive gene annotation on the reference chromosomes only |
| gene_models | hg38/gene_models/GENCODE/49/comprehensive/PRI | 0 | 114.51 MB | GENCODE 49, comprehensive gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions |
| gene_models | hg38/gene_models/knownGene_v20230628 | 0 | 50.08 MB | UCSC Known Genes v20230628 |
| gene_models | hg38/gene_models/MANE/0.5 | 0 | 5.51 MB | MANE gene model version 0.5 |
| gene_models | hg38/gene_models/MANE/0.6 | 0 | 6.09 MB | MANE gene model version 0.6 |
| gene_models | hg38/gene_models/MANE/0.7 | 0 | 6.43 MB | MANE gene model version 0.7 |
| gene_models | hg38/gene_models/MANE/0.8 | 0 | 6.94 MB | MANE gene model version 0.8 |
| gene_models | hg38/gene_models/MANE/0.9 | 0 | 7.48 MB | MANE gene model version 0.9 |
| gene_models | hg38/gene_models/MANE/0.91 | 0 | 8.39 MB | MANE gene model version 0.91 |
| gene_models | hg38/gene_models/MANE/0.92 | 0 | 8.71 MB | MANE gene model version 0.92 |
| gene_models | hg38/gene_models/MANE/0.93 | 0 | 9.18 MB | MANE gene model version 0.93 |
| gene_models | hg38/gene_models/MANE/0.95 | 0 | 9.65 MB | MANE gene model version 0.95 |
| gene_models | hg38/gene_models/MANE/1.0 | 0 | 9.92 MB | MANE gene model version 1.0 |
| gene_models | hg38/gene_models/MANE/1.1 | 0 | 10.82 MB | MANE gene model version 1.1 |
| gene_models | hg38/gene_models/MANE/1.2 | 0 | 10.86 MB | MANE gene model version 1.2 |
| gene_models | hg38/gene_models/MANE/1.3 | 0 | 10.88 MB | MANE gene model version 1.3 |
| gene_models | hg38/gene_models/MANE/1.4 | 0 | 10.89 MB | MANE gene model version 1.4 |
| gene_models | hg38/gene_models/MANE/1.5 | 0 | 11.0 MB | MANE gene model version 1.5 |
| gene_models | hg38/gene_models/ncbiRefSeq_v20221028 | 0 | 48.56 MB | NCBI RefSeq v20221028 |
| gene_models | hg38/gene_models/refGene_v20170601 | 0 | 5.45 MB | refSeq gene models for HG38 from 20170601 |
| gene_models | hg38/gene_models/refGene_v20200110 | 0 | 30.95 MB | UCSC RefGene v20200110 |
| gene_models | hg38/gene_models/refSeq_v20200330 | 0 | 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 | 7.03 MB | refSeq gene models for HG38 from 2024-01-29 |
| genome | hg38/genomes/GRCh38-hg38 | 0 | 784.64 MB | HG38 reference genome |
| genome | hg38/genomes/GRCh38.p13 | 0 | 803.07 MB | Nucleotide sequence of the GRCh38.p13 genome assembly |
| genome | hg38/genomes/GRCh38.p14 | 0 | 809.43 MB | Nucleotide sequence of the GRCh38.p14 genome assembly |
| genome | hg38/genomes/ucsc-hg38 | 0 | 941.57 MB | Nucleotide sequence of the GRCh38/hg38 human genome assembly from UCSC |
| allele_score | hg38/scores/AlphaMissense | 0 | 1.17 GB | Functional impact of mutations on protein function |
| allele_score | hg38/scores/AVI | 0 | 82.4 GB | AlphaGenome Variant Impact (AVI) scores for single-nucleotide variants |
| allele_score | hg38/scores/CADD_v1.7 | 0 | 81.47 GB | CADD (Combined Annotation Dependent Depletion score) predicts the potential impact of a SNP |
| allele_score | hg38/scores/ClinVar_20240730 | 0 | 1.29 GB | Measure used to assess the clinical significance of genetic variants |
| allele_score | hg38/scores/ClinVar_20251019 | 0 | 479.83 MB | Measure used to assess the clinical significance of genetic variants |
| allele_score | hg38/scores/dbNSFP4.9a | 0 | 36.8 GB | dbNSFPv4.9a |
| allele_score | hg38/scores/dbSNP | 0 | 14.01 GB | dbSNP: A public database of genetic variations for research and clinical use. |
| position_score | hg38/scores/phastCons100way | 0 | 5.48 GB | Conservation score based on the multiple alignment of 100 species |
| position_score | hg38/scores/phastCons20way | 0 | 6.63 GB | Conservation score based on the multiple alignment of 20 species |
| position_score | hg38/scores/phastCons30way | 0 | 6.59 GB | Conservation score based on the multiple alignment of 30 species |
| position_score | hg38/scores/phastCons7way | 0 | 7.19 GB | Conservation score based on the multiple alignment of 7 species |
| position_score | hg38/scores/phyloP100way | 0 | 9.19 GB | Conservation score based on the multiple alignment of 100 species |
| position_score | hg38/scores/phyloP20way | 0 | 7.33 GB | Conservation score based on the multiple alignment of 20 species |
| position_score | hg38/scores/phyloP30way | 0 | 7.82 GB | Conservation score based on the multiple alignment of 30 species |
| position_score | hg38/scores/phyloP7way | 0 | 5.25 GB | Conservation score based on the multiple alignment of 7 species |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/exomes/afr | 0 | 173.18 MB | gnomAD v4.1.0 exome variants (African/African American) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/exomes/ALL | 0 | 1.32 GB | gnomAD v4.1.0 exome variants (ALL) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/exomes/amr | 0 | 171.56 MB | gnomAD v4.1.0 exome variants (Ad Mixed American) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/exomes/asj | 0 | 56.27 MB | gnomAD v4.1.0 exome variants (Ashkenazi Jewish) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/exomes/eas | 0 | 149.5 MB | gnomAD v4.1.0 exome variants (East Asian) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/exomes/fin | 0 | 90.62 MB | gnomAD v4.1.0 exome variants (Finnish) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/exomes/mid | 0 | 63.0 MB | gnomAD v4.1.0 exome variants (Middle Eastern) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/exomes/nfe | 0 | 916.88 MB | gnomAD v4.1.0 exome variants (Non-Finnish European) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/exomes/sas | 0 | 277.42 MB | gnomAD v4.1.0 exome variants (South Asian) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/genomes/afr | 0 | 5.98 GB | gnomAD v4.1.0 genome variants (African/African American) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/genomes/ALL | 0 | 10.47 GB | gnomAD v4.1.0 genome variants (ALL) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/genomes/amr | 0 | 4.0 GB | gnomAD v4.1.0 genome variants (Ad Mixed American) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/genomes/asj | 0 | 2.28 GB | gnomAD v4.1.0 genome variants (Ashkenazi Jewish) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/genomes/eas | 0 | 3.03 GB | gnomAD v4.1.0 genome variants (East Asian) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/genomes/fin | 0 | 2.86 GB | gnomAD v4.1.0 genome variants (Finnish) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/genomes/mid | 0 | 1.93 GB | gnomAD v4.1.0 genome variants (Middle Eastern) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/genomes/nfe | 0 | 5.75 GB | gnomAD v4.1.0 genome variants (Non-Finnish European) |
| allele_score | hg38/variant_frequencies/gnomAD_4.1.0/genomes/sas | 0 | 3.04 GB | gnomAD v4.1.0 genome variants (South Asian) |
| allele_score | hg38/variant_frequencies/gnomAD_v2.1.1_liftover/exomes | 0 | 928.6 MB | Liftover of gnomAD exomes v2.1.1 to hg38. |
| allele_score | hg38/variant_frequencies/gnomAD_v2.1.1_liftover/genomes | 0 | 11.53 GB | Liftover of gnomAD genomes v2.1.1 to hg38. |
| gene_models | hs1/gene_models/ncbiRefSeq_20250529 | 0 | 45.2 MB | NCBI RefSeq gene models for the T2T-CHM13v2.0/hs1 genome assembly from UCSC |
| genome | hs1/genomes/ucsc-hs1 | 0 | 932.71 MB | Nucleotide sequence of the T2T-CHM13v2.0/hs1 genome assembly from UCSC |
| liftover_chain | liftover/hg19_to_hg38 | 0 | 450.25 KB | Liftover Chain hg19 to hg38 |
| liftover_chain | liftover/hg19_to_hs1 | 0 | 2.07 MB | Liftover Chain hg19 to hs1 |
| liftover_chain | liftover/hg38_to_hg19 | 0 | 2.4 MB | Liftover Chain hg38 to hg19 |
| liftover_chain | liftover/hg38_to_hs1 | 0 | 2.08 MB | Liftover Chain hg38 to hs1 |
| liftover_chain | liftover/hs1_to_hg19 | 0 | 2.07 MB | Liftover Chain hs1 to hg19 |
| liftover_chain | liftover/hs1_to_hg38 | 0 | 2.08 MB | Liftover Chain hs1 to hg38 |
| annotation_pipeline | pipeline/hg19_clinical_annotation | 0 | 3.04 KB | Clinical Annotation Pipeline for hg19 |
| annotation_pipeline | pipeline/hg38_autism_annotation | 0 | 4.59 KB | Autism Annotation Pipeline |
| annotation_pipeline | pipeline/hg38_clinical_annotation | 0 | 3.07 KB | Clinical Annotation Pipeline for hg38 |
| annotation_pipeline | pipeline/hg38_demo_pipeline | 0 | 1.92 KB | Annotation Pipeline used in the paper. |
| annotation_pipeline | pipeline/hs1_clinical_annotation | 0 | 3.39 KB | Clinical Annotation Pipeline for hs1 coordinates |