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grch38-toplevel-reference-genome-ensembl-v1
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public |
The GRCh38 unmasked genomic DNA seqeunce reference genome from Ensembl-Release 99. Includes all sequence regions flagged as toplevel by Ensembl including chromosomes, regions not assembled into chromosomes, and N padded haplotype/patch regions. 'Top Level file'
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2025-03-25 |
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grch37-toplevel-reference-genome-ensembl-v1
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public |
The GRCh37 unmasked genomic DNA seqeunce reference genome from Ensembl-Release 75. Includes all sequence regions flagged as toplevel by Ensembl including chromosomes, regions not assembled into chromosomes, and N padded haplotype/patch regions. 'Top Level file'
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2025-03-25 |
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hg19-clinically-associated-variants-ensembl-v1
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public |
**Liftover** All known clinically associated variants at the time of Ensembl release 99. Any variant in ClinVar classified as probably/likely-pathogenic, pathogenic, drug-response, or histocompatibility are included. Decomposed and Normalized. Liftover from GRCh38 to GRCh37. Remapped from Ensembl GRCh37 to UCSC hg19. Ensembl variant info page can be found at: https://uswest.ensembl.org/info/genome/variation/index.html
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2025-03-25 |
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grch37-clinically-associated-variants-ensembl-v1
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public |
**Liftover** All known clinically associated variants at the time of Ensembl release 99. Any variant in ClinVar classified as probably/likely-pathogenic, pathogenic, drug-response, or histocompatibility are included. Decomposed and Normalized. Liftover from GRCh38 to GRCh37. Ensembl variant info page can be found at: https://uswest.ensembl.org/info/genome/variation/index.html
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2025-03-25 |
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hg19-phenotype-associated-variants-ensembl-v1
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public |
**Liftover** All variants at the time of Ensembl release 99 that have a known phenotype association. Decomposed and Normalized. Liftover from GRCh38 to GRCh37. Remapped from Ensembl GRCh37 to UCSC hg19. Ensembl variant info page can be found at: https://uswest.ensembl.org/info/genome/variation/index.html
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2025-03-25 |
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grch37-phenotype-associated-variants-ensembl-v1
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public |
**Liftover** All variants at the time of Ensembl release 99 that have a known phenotype association. Decomposed and Normalized. Liftover from GRCh38 to GRCh37. Ensembl variant info page can be found at: https://uswest.ensembl.org/info/genome/variation/index.html
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2025-03-25 |
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hg38-pli-scores-exac-v1
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public |
The probability of being loss-of-function intolerant (pLI) by gene scores from ExAC. See paper at: https://www.nature.com/articles/nature19057. Pseudo-liftover: Updated coordinates based on transcript ids that map between GRCh37 and GRCh38. If unable to map transcript id, the gene symbol is mapped between GRCh37 and GRCh38. If neither the transcript id or gene symbol map between the two builds the record is removed. Remapped from Ensembl GRCh38 to UCSC hg38
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2025-03-25 |
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hg19-pli-scores-exac-v1
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public |
The probability of being loss-of-function intolerant (pLI) by gene scores from ExAC. See paper at: https://www.nature.com/articles/nature19057. Remapped from Ensembl GRCh37 to UCSC hg19
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2025-03-25 |
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grch38-pli-scores-exac-v1
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public |
The probability of being loss-of-function intolerant (pLI) by gene scores from ExAC. See paper at: https://www.nature.com/articles/nature19057. Pseudo-liftover: Updated coordinates based on transcript ids that map between GRCh37 and GRCh38. If unable to map transcript id, the gene symbol is mapped between GRCh37 and GRCh38. If neither the transcript id or gene symbol map between the two builds the record is removed.
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2025-03-25 |
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grch37-pli-scores-exac-v1
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public |
The probability of being loss-of-function intolerant (pLI) by gene scores from ExAC. See paper at: https://www.nature.com/articles/nature19057.
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2025-03-25 |
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hg19-germline-variants-ensembl-v1
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public |
All known germline variants at the time of Ensembl release 75. Conseqeunces for each variant are included in the annotation. Decomposed and Normalized. Remapped from Ensembl GRCh37 to UCSC hg19. Ensembl variant info page can be found at: https://uswest.ensembl.org/info/genome/variation/index.html
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2025-03-25 |
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grch37-germline-variants-ensembl-v1
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public |
All known germline variants at the time of Ensembl release 75. Conseqeunces for each variant are included in the annotation. Decomposed and Normalized. Ensembl variant info page can be found at: https://uswest.ensembl.org/info/genome/variation/index.html
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2025-03-25 |
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hg19-missense-z-score-exac-v1
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public |
Missense Z Score by gene. A constraint score based on missense variation, from Samocha et al., Nature Genetics 2014. The score is derived by calculating a null expectation of missense variation for each gene, and comparing it to what is observed in ExAC, then stratifying each gene using a Z score distribution. That paper is at: https://www.nature.com/articles/ng.3050. Remapped from Ensembl GRCh37 to UCSC hg19
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2025-03-25 |
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grch37-missense-z-score-exac-v1
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public |
Missense Z Score by gene. A constraint score based on missense variation, from Samocha et al., Nature Genetics 2014. The score is derived by calculating a null expectation of missense variation for each gene, and comparing it to what is observed in ExAC, then stratifying each gene using a Z score distribution. That paper is at: https://www.nature.com/articles/ng.3050
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2025-03-25 |
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hg38-missense-z-score-exac-v1
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public |
Missense Z Score by gene. A constraint score based on missense variation, from Samocha et al., Nature Genetics 2014. The score is derived by calculating a null expectation of missense variation for each gene, and comparing it to what is observed in ExAC, then stratifying each gene using a Z score distribution. That paper is at: https://www.nature.com/articles/ng.3050. Pseudo-liftover: Updated coordinates based on transcript ids that map between GRCh37 and GRCh38. If unable to map transcript id, the gene symbol is mapped between GRCh37 and GRCh38. If neither the transcript id or gene symbol map between the two builds the record is removed. Remapped from Ensembl GRCh38 to UCSC hg38
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2025-03-25 |
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grch38-missense-z-score-exac-v1
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public |
Missense Z Score by gene. A constraint score based on missense variation, from Samocha et al., Nature Genetics 2014. The score is derived by calculating a null expectation of missense variation for each gene, and comparing it to what is observed in ExAC, then stratifying each gene using a Z score distribution. That paper is at: https://www.nature.com/articles/ng.3050. Pseudo-liftover: Updated coordinates based on transcript ids that map between GRCh37 and GRCh38. If unable to map transcript id, the gene symbol is mapped between GRCh37 and GRCh38. If neither the transcript id or gene symbol map between the two builds the record is removed.
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2025-03-25 |
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hg38-structural-variants-ensembl-v1
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public |
All known structural mutations at the time of Ensembl release 99. Remapped from Ensembl GRCh38 to UCSC hg38. Ensembl variant info page can be found at: https://uswest.ensembl.org/info/genome/variation/index.html
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2025-03-25 |
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hg19-structural-variants-ensembl-v1
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public |
All known structural mutations at the time of Ensembl release 75. Remapped from Ensembl GRCh37 to UCSC hg19. Ensembl variant info page can be found at: https://uswest.ensembl.org/info/genome/variation/index.html
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2025-03-25 |
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grch38-structural-variants-ensembl-v1
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public |
All known structural mutations at the time of Ensembl release 99. Remapped from Ensembl GRCh38 to UCSC hg38. Ensembl variant info page can be found at: https://uswest.ensembl.org/info/genome/variation/index.html
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2025-03-25 |
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grch37-structural-variants-ensembl-v1
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public |
All known structural mutations at the time of Ensembl release 75. Ensembl variant info page can be found at: https://uswest.ensembl.org/info/genome/variation/index.html
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2025-03-25 |
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hg38-clinically-associated-variants-ensembl-v1
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public |
All known clinically associated variants at the time of Ensembl release 99. Any variant in ClinVar classified as probably/likely-pathogenic, pathogenic, drug-response, or histocompatibility are included. Decomposed and Normalized. Remapped from Ensembl GRCh38 to UCSC hg19. Ensembl variant info page can be found at: https://uswest.ensembl.org/info/genome/variation/index.html
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2025-03-25 |
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grch38-clinically-associated-variants-ensembl-v1
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public |
All known clinically associated variants at the time of Ensembl release 99. Any variant in ClinVar classified as probably/likely-pathogenic, pathogenic, drug-response, or histocompatibility are included. Decomposed and Normalized. Ensembl variant info page can be found at: https://uswest.ensembl.org/info/genome/variation/index.html
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2025-03-25 |
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hg38-phenotype-associated-variants-ensembl-v1
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public |
All variants at the time of Ensembl release 99 that have a known phenotype association. Decomposed and Normalized. Remapped from Ensembl GRCh37 to UCSC hg19. Ensembl variant info page can be found at: https://uswest.ensembl.org/info/genome/variation/index.html
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2025-03-25 |
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grch38-phenotype-associated-variants-ensembl-v1
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public |
All variants at the time of Ensembl release 99 that have a known phenotype association. Decomposed and Normalized. Ensembl variant info page can be found at: https://uswest.ensembl.org/info/genome/variation/index.html
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2025-03-25 |
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hg38-somatic-variants-ensembl-v1
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public |
All known somatic mutations at the time of Ensembl release 99. Conseqeunces for each variant are included in the annotation. Decomposed and Normalized. Remapped from Ensembl GRCh38 to UCSC hg38. Ensembl variant info page can be found at: https://uswest.ensembl.org/info/genome/variation/index.html
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2025-03-25 |
