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samocha_enrichment_backgroundenrichment/samocha_background01.38 MBSamochaEtAl2014 Enrichment Background Model
gene_scoregene_properties/gene_scores/Iossifov_Wigler_PNAS_201507.82 MB Probability of a gene to be associated with autism
gene_scoregene_properties/gene_scores/LGD0571.91 KBGene vulnerability/intolerance score based on the rare LGD variants
gene_scoregene_properties/gene_scores/LOEUF013.21 MBDegree of intolerance to predicted Loss-of-Function (pLoF) variation
gene_scoregene_properties/gene_scores/pLI0942.87 KBProbability of Loss-of-Function Intolerance
gene_scoregene_properties/gene_scores/pRec0927.66 KBProbability of biallelic loss-of-function intolerance
gene_scoregene_properties/gene_scores/RVIS0481.49 KBResidual Variation Intolerance Score
gene_scoregene_properties/gene_scores/Satterstrom_Buxbaum_Cell_20200633.74 KBTADA derived gene-autism association score
gene_scoregene_properties/gene_scores/SFARI_gene_score0167.61 KBSFARI gene score release 01-13-2021
gene_scoregene_properties/gene_scores/SFARI_gene_score_2024_Q10193.02 KBSFARI gene score 2024 Q1 release
gene_set_collectiongene_properties/gene_sets/autism045.92 KBAutism gene sets derived from publications
gene_set_collectiongene_properties/gene_sets/GO_2025-07-22_release0114.87 MBGO terms 2025-07-22 release
gene_set_collectiongene_properties/gene_sets/miRNA01.65 MBmiRNA target sets
gene_set_collectiongene_properties/gene_sets/miRNA_Darnell0156.22 KBmiRNA target sets by Darnell
gene_set_collectiongene_properties/gene_sets/MSigDB_curated/7.504.81 MBMSigDB (Molecular Signatures Database) gene sets derived from a variety of curated sources
gene_set_collectiongene_properties/gene_sets/PFAM_37.0_domains03.41 MBPFAM 37.0 domains
gene_set_collectiongene_properties/gene_sets/relevant0158.25 KBVariety of gene sets with potential relevance to autism
gene_set_collectiongene_properties/gene_sets/sfari051.75 KBSFARI gene sets with relevance to autism
gene_set_collectiongene_properties/gene_sets/spark039.75 KBSPARK gene sets with relevance to autism
genomehg19/genomes/GATK_ResourceBundle_5777_b37_phiX17402.94 GBHG19 reference genome
allele_scorehg19/scores/MPC02.26 GB MPC (Missense badness, PolyPhen-2, and Constraint) is a composite score that predicts the impact of missense variants.
fragment_scorehg38/cnv_collections/Iossifov_Lab_SSC_AGRE_20210169.54 KBDe novo CNVs from SSC and AGRE WGS
fragment_scorehg38/cnv_collections/SFARI_gene_CNV0163.35 KBSFARI_Gene CNV collection
gene_scorehg38/enrichment/GENCODE_49/coding_length_gencode_49_basic_pri0395.11 KBCoding length enrichment background based on GENCODE v49 basic PRI gene models for HG38
gene_scorehg38/enrichment/GENCODE_49/ur_synonymous_AGRE_WGS_CSHL0200.76 KBUltra rare synonymous enrichment background build from AGRE WGS CSHL.
gene_scorehg38/enrichment/GENCODE_49/ur_synonymous_SFARI_SPARK_iWES_v30224.21 KBUltra rare synonymous enrichment background build from SPARK iWES v2.
gene_scorehg38/enrichment/GENCODE_49/ur_synonymous_SFARI_SPARK_iWGS_v1_10221.37 KBUltra rare synonymous enrichment background build from SPARK iWGS v1.1.
gene_scorehg38/enrichment/GENCODE_49/ur_synonymous_SFARI_SSC_WES_CSHL_liftover0122.77 KBUltra rare synonymous enrichment background build from SFARI SSC WES CSHL liftover.
gene_scorehg38/enrichment/GENCODE_49/ur_synonymous_SFARI_SSC_WGS_20214.98 KBUltra rare synonymous enrichment background build from SFARI SSC WGS NYGC.
gene_scorehg38/enrichment/GENCODE_49/ur_synonymous_SFARI_SSC_WGS_CSHL0213.71 KBUltra rare synonymous enrichment background build from SFARI SSC WGS NYGC.
gene_modelshg38/gene_models/GENCODE/49/basic/PRI080.53 MBGENCODE 49, basic gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions
gene_modelshg38/gene_models/MANE/1.4010.89 MBMANE gene model version 1.4
genomehg38/genomes/GRCh38.p1403.95 GBNucleotide sequence of the GRCh38.p14 genome assembly
allele_scorehg38/scores/AlphaMissense01.17 GB Functional impact of mutations on protein function
allele_scorehg38/scores/CADD_v1.7081.47 GBCADD (Combined Annotation Dependent Depletion score) predicts the potential impact of a SNP
allele_scorehg38/scores/ClinVar_202510190479.83 MBMeasure used to assess the clinical significance of genetic variants
allele_scorehg38/scores/dbSNP014.01 GBdbSNP: A public database of genetic variations for research and clinical use.
position_scorehg38/scores/phastCons100way05.48 GBConservation score based on the multiple alignment of 100 species
position_scorehg38/scores/phastCons20way06.63 GBConservation score based on the multiple alignment of 20 species
position_scorehg38/scores/phastCons30way06.59 GBConservation score based on the multiple alignment of 30 species
position_scorehg38/scores/phastCons7way07.19 GBConservation score based on the multiple alignment of 7 species
position_scorehg38/scores/phyloP100way09.19 GBConservation score based on the multiple alignment of 100 species
position_scorehg38/scores/phyloP20way07.33 GBConservation score based on the multiple alignment of 20 species
position_scorehg38/scores/phyloP30way07.82 GBConservation score based on the multiple alignment of 30 species
position_scorehg38/scores/phyloP7way05.25 GBConservation score based on the multiple alignment of 7 species
allele_scorehg38/variant_frequencies/gnomAD_4.1.0/exomes/ALL01.32 GBgnomAD v4.1.0 exome variants (ALL)
allele_scorehg38/variant_frequencies/gnomAD_4.1.0/genomes/ALL010.47 GBgnomAD v4.1.0 genome variants (ALL)
liftover_chainliftover/hg38_to_hg1902.4 MBLiftover Chain Hg38 to Hg19
annotation_pipelinepipeline/GPF_SFARI_annotation03.54 KBGPF SFARI Annotation Pipeline