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Browse files- CITATION.cff +35 -0
- LICENSE.md +22 -0
- NOTICE.md +49 -0
- README.md +186 -0
- SHA256SUMS +80 -0
- UPLOAD_READY.json +11 -0
- USAGE.md +117 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chr10.vcf.gz.tbi +0 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chr11.vcf.gz.tbi +0 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chr12.vcf.gz.tbi +0 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chr13.vcf.gz.tbi +0 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chr14.vcf.gz.tbi +0 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chr15.vcf.gz.tbi +0 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chr16.vcf.gz.tbi +0 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chr17.vcf.gz.tbi +0 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chr18.vcf.gz.tbi +0 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chr19.vcf.gz.tbi +0 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chr20.vcf.gz.tbi +0 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chr21.vcf.gz.tbi +0 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chr22.vcf.gz.tbi +0 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chr3.vcf.gz.tbi +0 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chr4.vcf.gz.tbi +0 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chr5.vcf.gz.tbi +0 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chr6.vcf.gz.tbi +0 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chr7.vcf.gz.tbi +0 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chr8.vcf.gz.tbi +0 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chr9.vcf.gz.tbi +0 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chrX.vcf.gz.tbi +0 -0
- data/spliceai-mane-v1.5-d500-m1.snv.chrY.vcf.gz.tbi +0 -0
- metadata/broad-validation-summary.json +47 -0
- metadata/chromosomes/chr1.json +16 -0
- metadata/chromosomes/chr10.json +16 -0
- metadata/chromosomes/chr11.json +16 -0
- metadata/chromosomes/chr12.json +16 -0
- metadata/chromosomes/chr13.json +16 -0
- metadata/chromosomes/chr14.json +16 -0
- metadata/chromosomes/chr15.json +16 -0
- metadata/chromosomes/chr16.json +16 -0
- metadata/chromosomes/chr17.json +16 -0
- metadata/chromosomes/chr18.json +16 -0
- metadata/chromosomes/chr19.json +16 -0
- metadata/chromosomes/chr2.json +16 -0
- metadata/chromosomes/chr20.json +16 -0
- metadata/chromosomes/chr21.json +16 -0
- metadata/chromosomes/chr22.json +16 -0
- metadata/chromosomes/chr3.json +16 -0
- metadata/chromosomes/chr4.json +16 -0
- metadata/chromosomes/chr5.json +16 -0
- metadata/chromosomes/chr6.json +16 -0
- metadata/release-manifest.json +366 -0
CITATION.cff
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cff-version: 1.2.0
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title: "SpliceAI MANE Select v1.5 GRCh38 SNV scores (D=500, masked)"
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message: "Please cite this dataset, the generation software, the original SpliceAI publication, and MANE."
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type: dataset
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authors:
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| 6 |
+
- family-names: Luo
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| 7 |
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given-names: Yiming
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| 8 |
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version: 1.0.0
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| 9 |
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date-released: 2026-10-03
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| 10 |
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license: CC-BY-NC-4.0
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repository-code: "https://github.com/yimingluo-md/batched-inference-for-spliceai"
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references:
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| 13 |
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- type: software
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| 14 |
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title: "Batched inference for SpliceAI"
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| 15 |
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authors:
|
| 16 |
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- family-names: Luo
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| 17 |
+
given-names: Yiming
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| 18 |
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version: 0.1.0rc4
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| 19 |
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repository-code: "https://github.com/yimingluo-md/batched-inference-for-spliceai"
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| 20 |
+
- type: article
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| 21 |
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title: "Predicting Splicing from Primary Sequence with Deep Learning"
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| 22 |
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authors:
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| 23 |
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- family-names: Jaganathan
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| 24 |
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given-names: Kishore
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| 25 |
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year: 2019
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| 26 |
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journal: Cell
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| 27 |
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doi: 10.1016/j.cell.2018.12.015
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- type: article
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title: "A joint NCBI and EMBL-EBI transcript set for clinical genomics and research"
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authors:
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| 31 |
+
- family-names: Morales
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| 32 |
+
given-names: Joannella
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| 33 |
+
year: 2022
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| 34 |
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journal: Nature
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| 35 |
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doi: 10.1038/s41586-022-04558-8
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LICENSE.md
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# Creative Commons Attribution-NonCommercial 4.0 International
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This dataset is licensed under the Creative Commons Attribution-NonCommercial
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4.0 International license (CC BY-NC 4.0).
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| 5 |
+
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| 6 |
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You are free to share and adapt the material under the following terms:
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| 7 |
+
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| 8 |
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- **Attribution:** Give appropriate credit, provide a link to the license, and
|
| 9 |
+
indicate whether changes were made. Do not imply endorsement.
|
| 10 |
+
- **NonCommercial:** You may not use the material for commercial purposes.
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| 11 |
+
- **No additional restrictions:** You may not apply legal or technological
|
| 12 |
+
measures that legally restrict others from doing anything the license permits.
|
| 13 |
+
|
| 14 |
+
The complete, controlling legal code is available at:
|
| 15 |
+
|
| 16 |
+
<https://creativecommons.org/licenses/by-nc/4.0/legalcode>
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| 17 |
+
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| 18 |
+
The license applies to the dataset and generated score files to the extent they
|
| 19 |
+
are licensable by the dataset publisher. SpliceAI, its trained models, MANE,
|
| 20 |
+
GRCh38, third-party software, names, and trademarks retain their respective
|
| 21 |
+
rights and terms. No rights beyond those held by the dataset publisher are
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| 22 |
+
granted.
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NOTICE.md
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# Notices and attribution
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| 2 |
+
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## SpliceAI
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| 4 |
+
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| 5 |
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The scores were produced using SpliceAI 1.3.1 and its five-model ensemble.
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| 6 |
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SpliceAI was developed by Illumina, Inc. This dataset is independent and is not
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affiliated with or endorsed by Illumina. The SpliceAI name is used only to
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identify compatibility with the upstream method and score format.
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| 9 |
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| 10 |
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Please cite:
|
| 11 |
+
|
| 12 |
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Jaganathan K, et al. Predicting Splicing from Primary Sequence with Deep
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| 13 |
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Learning. *Cell*. 2019;176(3):535–548.e24.
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| 14 |
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<https://doi.org/10.1016/j.cell.2018.12.015>
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| 15 |
+
|
| 16 |
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## MANE
|
| 17 |
+
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| 18 |
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Transcript definitions are derived from MANE Select v1.5. The source MANE
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| 19 |
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annotation itself is not redistributed in this dataset.
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| 20 |
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| 21 |
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Please cite:
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| 22 |
+
|
| 23 |
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Morales J, et al. A joint NCBI and EMBL-EBI transcript set for clinical
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| 24 |
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genomics and research. *Nature*. 2022;604:310–315.
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| 25 |
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<https://doi.org/10.1038/s41586-022-04558-8>
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| 26 |
+
|
| 27 |
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## Reference genome
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| 28 |
+
|
| 29 |
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Scores use GRCh38/hg38 coordinates. Reference genome sequence is not included.
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| 30 |
+
|
| 31 |
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## Generation software
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| 32 |
+
|
| 33 |
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The generation software is available separately under GPL-3.0-or-later:
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| 34 |
+
|
| 35 |
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<https://github.com/yimingluo-md/batched-inference-for-spliceai>
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| 36 |
+
|
| 37 |
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The dataset license does not alter the software license, and the software
|
| 38 |
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license does not replace the dataset license.
|
| 39 |
+
|
| 40 |
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## External validation
|
| 41 |
+
|
| 42 |
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The Broad SpliceAI Lookup service was used as an external scientific
|
| 43 |
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comparator. Raw API responses are not included. Broad Institute does not
|
| 44 |
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endorse this dataset.
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| 45 |
+
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| 46 |
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## Research-use notice
|
| 47 |
+
|
| 48 |
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This dataset is not a validated clinical diagnostic device. Predictions require
|
| 49 |
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independent review and must not be the sole basis for patient-care decisions.
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README.md
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---
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license: cc-by-nc-4.0
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---
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|
| 1 |
---
|
| 2 |
+
pretty_name: "SpliceAI MANE Select v1.5 GRCh38 SNV scores (D=500, masked)"
|
| 3 |
license: cc-by-nc-4.0
|
| 4 |
+
language:
|
| 5 |
+
- en
|
| 6 |
+
tags:
|
| 7 |
+
- biology
|
| 8 |
+
- genomics
|
| 9 |
+
- bioinformatics
|
| 10 |
+
- variants
|
| 11 |
+
- vcf
|
| 12 |
+
- spliceai
|
| 13 |
+
- grch38
|
| 14 |
+
- mane-select
|
| 15 |
+
size_categories:
|
| 16 |
+
- 1B<n<10B
|
| 17 |
---
|
| 18 |
+
|
| 19 |
+
# SpliceAI MANE Select v1.5 GRCh38 SNV scores
|
| 20 |
+
|
| 21 |
+
Masked SpliceAI 1.3.1 scores for all three possible non-reference single-
|
| 22 |
+
nucleotide variants at every A/C/G/T position within the union of MANE Select
|
| 23 |
+
v1.5 transcript spans on the 24 GRCh38 primary chromosomes.
|
| 24 |
+
|
| 25 |
+
The predictions were computed with a maximum distance of 500 nucleotides
|
| 26 |
+
(`D=500`) and masking enabled (`M=1`). The release contains **3,408,398,835
|
| 27 |
+
SNV records** in 24 bgzip-compressed, tabix-indexed VCF files. The compressed
|
| 28 |
+
VCFs total 34.32 GB (31.96 GiB).
|
| 29 |
+
|
| 30 |
+
This is an independent research dataset. It is not affiliated with or endorsed
|
| 31 |
+
by Illumina. “SpliceAI” is used descriptively to identify compatibility with
|
| 32 |
+
the SpliceAI score format.
|
| 33 |
+
|
| 34 |
+
## Why this dataset was generated
|
| 35 |
+
|
| 36 |
+
The original GRCh38 precomputed SpliceAI scores used an older transcript set
|
| 37 |
+
and genome-build liftover. Martin-Geary et al. reported transcript-selection
|
| 38 |
+
and liftover-related discrepancies in that resource
|
| 39 |
+
([doi:10.1101/2025.08.27.25334471](https://doi.org/10.1101/2025.08.27.25334471)).
|
| 40 |
+
The Broad SpliceAI Lookup service provides updated calculations but is designed
|
| 41 |
+
for small, rate-limited queries rather than genome-wide annotation. Ensembl
|
| 42 |
+
provides MANE-based SNV scores with a smaller reported distance. This dataset
|
| 43 |
+
provides a bulk, reproducible MANE Select v1.5 resource with `D=500` and
|
| 44 |
+
`M=1`. A wider search distance permits SpliceAI to report predicted splice-site
|
| 45 |
+
changes farther from the queried variant; see Pitsava et al.
|
| 46 |
+
([doi:10.1016/j.gim.2025.101574](https://doi.org/10.1016/j.gim.2025.101574)).
|
| 47 |
+
|
| 48 |
+
## Dataset contents
|
| 49 |
+
|
| 50 |
+
```text
|
| 51 |
+
data/
|
| 52 |
+
spliceai-mane-v1.5-d500-m1.snv.chr1.vcf.gz
|
| 53 |
+
spliceai-mane-v1.5-d500-m1.snv.chr1.vcf.gz.tbi
|
| 54 |
+
...
|
| 55 |
+
spliceai-mane-v1.5-d500-m1.snv.chrY.vcf.gz
|
| 56 |
+
spliceai-mane-v1.5-d500-m1.snv.chrY.vcf.gz.tbi
|
| 57 |
+
metadata/
|
| 58 |
+
release-manifest.json
|
| 59 |
+
broad-validation-summary.json
|
| 60 |
+
README.md
|
| 61 |
+
USAGE.md
|
| 62 |
+
LICENSE.md
|
| 63 |
+
NOTICE.md
|
| 64 |
+
CITATION.cff
|
| 65 |
+
SHA256SUMS
|
| 66 |
+
```
|
| 67 |
+
|
| 68 |
+
Each VCF record has one alternate allele and a `SpliceAI` INFO value:
|
| 69 |
+
|
| 70 |
+
```text
|
| 71 |
+
ALLELE|SYMBOL|DS_AG|DS_AL|DS_DG|DS_DL|DP_AG|DP_AL|DP_DG|DP_DL
|
| 72 |
+
```
|
| 73 |
+
|
| 74 |
+
`DS` fields are delta scores for acceptor gain, acceptor loss, donor gain, and
|
| 75 |
+
donor loss. `DP` fields are the corresponding signed positions relative to the
|
| 76 |
+
variant. Scores are stored to two decimal places. A delta position associated
|
| 77 |
+
with a displayed score of `0.00` should not be interpreted as evidence of an
|
| 78 |
+
effect.
|
| 79 |
+
|
| 80 |
+
No score threshold was applied. Users can select thresholds appropriate to
|
| 81 |
+
their intended research application.
|
| 82 |
+
|
| 83 |
+
## Genome and transcript scope
|
| 84 |
+
|
| 85 |
+
- Genome assembly: GRCh38/hg38
|
| 86 |
+
- Contigs: `1`–`22`, `X`, and `Y`
|
| 87 |
+
- Transcript set: MANE Select v1.5
|
| 88 |
+
- Primary-assembly MANE Select transcripts: 19,299
|
| 89 |
+
- Variant class: SNVs only
|
| 90 |
+
- Search distance: 500 nucleotides
|
| 91 |
+
- Masking: enabled (`M=1`)
|
| 92 |
+
- SpliceAI version: 1.3.1, five-model ensemble
|
| 93 |
+
|
| 94 |
+
The release excludes 64 MANE Select v1.5 transcripts located only on GRCh38
|
| 95 |
+
patch or alternate sequences. It does not contain MANE Plus Clinical-only
|
| 96 |
+
transcripts, indels, mitochondrial variants, alternate loci, or patches.
|
| 97 |
+
|
| 98 |
+
## Validation
|
| 99 |
+
|
| 100 |
+
The completed production release was audited across all 3,419 source shards:
|
| 101 |
+
|
| 102 |
+
- expected and observed records: 3,408,398,835;
|
| 103 |
+
- missing SpliceAI annotations: 0;
|
| 104 |
+
- all 24 primary chromosomes present;
|
| 105 |
+
- all chromosome VCFs passed BGZF, tabix, count, and checksum checks;
|
| 106 |
+
- deterministic production validation against the official SpliceAI 1.3.1
|
| 107 |
+
implementation passed;
|
| 108 |
+
- 120 chromosome-balanced production SNVs were compared with the Broad
|
| 109 |
+
SpliceAI Lookup API at GRCh38, `D=500`, and `M=1`;
|
| 110 |
+
- comparisons performed: 120/120;
|
| 111 |
+
- matching MANE Select responses: 120/120;
|
| 112 |
+
- delta-position differences: 0;
|
| 113 |
+
- maximum absolute score difference: 0.005.
|
| 114 |
+
|
| 115 |
+
The Broad service reports three decimal places while this VCF stores two, so a
|
| 116 |
+
maximum difference of 0.005 is consistent with two-decimal quantization.
|
| 117 |
+
|
| 118 |
+
Checksums and the machine-readable release manifest are included. The public
|
| 119 |
+
VCF headers and manifests contain no execution-host paths.
|
| 120 |
+
|
| 121 |
+
## Usage
|
| 122 |
+
|
| 123 |
+
See [USAGE.md](USAGE.md) for download, checksum verification, tabix lookup,
|
| 124 |
+
VCF annotation, chromosome naming, and interpretation examples.
|
| 125 |
+
|
| 126 |
+
## Limitations and responsible use
|
| 127 |
+
|
| 128 |
+
SpliceAI scores are computational predictions, not measurements of RNA
|
| 129 |
+
splicing and not classifications of pathogenicity. They should be considered
|
| 130 |
+
with transcript relevance, phenotype, population frequency, other evidence,
|
| 131 |
+
and—when appropriate—RNA or other functional studies.
|
| 132 |
+
|
| 133 |
+
This dataset is research material, not a validated clinical diagnostic device.
|
| 134 |
+
It must not be the sole basis for diagnosis, treatment, or other patient-care
|
| 135 |
+
decisions. Users are responsible for validation appropriate to their setting
|
| 136 |
+
and for compliance with applicable professional, institutional, and regulatory
|
| 137 |
+
requirements.
|
| 138 |
+
|
| 139 |
+
Because this resource is limited to MANE Select transcripts, clinically
|
| 140 |
+
important effects on alternative transcripts may be absent. Masking suppresses
|
| 141 |
+
some predictions that coincide with annotated splice gains or unannotated
|
| 142 |
+
splice losses. GRCh38 coordinates must not be used directly with another
|
| 143 |
+
assembly.
|
| 144 |
+
|
| 145 |
+
## License
|
| 146 |
+
|
| 147 |
+
The dataset is distributed under the
|
| 148 |
+
[Creative Commons Attribution-NonCommercial 4.0 International license](LICENSE.md)
|
| 149 |
+
(CC BY-NC 4.0). Commercial use is not permitted under this license.
|
| 150 |
+
|
| 151 |
+
The source software used to produce the data has separate GPL-3.0-or-later
|
| 152 |
+
terms. The SpliceAI trained models and upstream materials retain their own
|
| 153 |
+
terms and attribution. No model files, reference genome sequence, MANE source
|
| 154 |
+
annotation, patient data, or Broad API response cache is included here.
|
| 155 |
+
|
| 156 |
+
## Citation
|
| 157 |
+
|
| 158 |
+
Please cite this dataset, the generation software, and the original SpliceAI
|
| 159 |
+
publication:
|
| 160 |
+
|
| 161 |
+
- Luo Y. *SpliceAI MANE Select v1.5 GRCh38 SNV scores (D=500, masked).* Dataset,
|
| 162 |
+
version 1.0.0, 2026.
|
| 163 |
+
- Luo Y. *Batched inference for SpliceAI.* Version 0.1.0rc4.
|
| 164 |
+
<https://github.com/yimingluo-md/batched-inference-for-spliceai>
|
| 165 |
+
- Jaganathan K, et al. Predicting Splicing from Primary Sequence with Deep
|
| 166 |
+
Learning. *Cell*. 2019;176(3):535–548.e24.
|
| 167 |
+
[doi:10.1016/j.cell.2018.12.015](https://doi.org/10.1016/j.cell.2018.12.015)
|
| 168 |
+
- Morales J, et al. A joint NCBI and EMBL-EBI transcript set for clinical
|
| 169 |
+
genomics and research. *Nature*. 2022;604:310–315.
|
| 170 |
+
[doi:10.1038/s41586-022-04558-8](https://doi.org/10.1038/s41586-022-04558-8)
|
| 171 |
+
|
| 172 |
+
## Reproducibility
|
| 173 |
+
|
| 174 |
+
Generation software:
|
| 175 |
+
<https://github.com/yimingluo-md/batched-inference-for-spliceai>
|
| 176 |
+
|
| 177 |
+
Production source revision:
|
| 178 |
+
[`a145b3c6aeee8fe020033a8a6a0e71816772e73a`](https://github.com/yimingluo-md/batched-inference-for-spliceai/commit/a145b3c6aeee8fe020033a8a6a0e71816772e73a)
|
| 179 |
+
|
| 180 |
+
The public manifest records the reference, MANE annotation, runner, container,
|
| 181 |
+
and source-code SHA-256 identifiers used for production.
|
| 182 |
+
|
| 183 |
+
## AI-assisted development disclosure
|
| 184 |
+
|
| 185 |
+
The generation software and release preparation were developed with assistance
|
| 186 |
+
from OpenAI Codex (GPT-5.6 Sol) and Anthropic Claude Code (Claude Opus 5).
|
| 187 |
+
AI-generated suggestions were reviewed and tested before inclusion. These tools
|
| 188 |
+
are not project authors, and their use does not imply endorsement by OpenAI or
|
| 189 |
+
Anthropic.
|
SHA256SUMS
ADDED
|
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| 1 |
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| 64 |
+
49d652fd8996bdbe6428329154986e1f8bfbefd39552281d2f91441183acf9d2 metadata/chromosomes/chr17.json
|
| 65 |
+
32bc72a102f5fd3049da80aeb8c9878c0bc51dcbbbccd5558ca522d67e29e0aa metadata/chromosomes/chr18.json
|
| 66 |
+
2a85b325a39a90b39a21930f4e1507790396d5831a7bcc2cb9fba5a960aa4e51 metadata/chromosomes/chr19.json
|
| 67 |
+
abd41bd84303e833cb4e1c3a80257dc8fa81a8305707784d1741a6da4a8bcb76 metadata/chromosomes/chr2.json
|
| 68 |
+
dfb8fd1dff8888775e86110d8c58a3de86e3bf40fc6cb4e1365ad1aa03419601 metadata/chromosomes/chr20.json
|
| 69 |
+
3d6d9f3d41f8aff231a2bec1b459ba6b9b881f94eb64024ad1061971e9e3e2a6 metadata/chromosomes/chr21.json
|
| 70 |
+
76f1662c123ffee3ab852d5ca3695c3b6ce87de586541e5e9f2c41e1509095d3 metadata/chromosomes/chr22.json
|
| 71 |
+
f871e75af8f4fc406deb3461992dd0d7a5f68101adcce699e967975fad6eb5a6 metadata/chromosomes/chr3.json
|
| 72 |
+
fccc388db834899badb0c2029e6abe12c77864c0bb8e9be64b77ad19bb37e550 metadata/chromosomes/chr4.json
|
| 73 |
+
33e3d5bb304bec183ec027d35ca8ebe65453e8519f9c404808aa31169a3948b6 metadata/chromosomes/chr5.json
|
| 74 |
+
b3acd6074cbced79cbaea65715889368152c061abbe2aca1672131fb147c1066 metadata/chromosomes/chr6.json
|
| 75 |
+
5c2d5f0712a285337c8509ee4670459f0d03a016fb010f01af243707d2c500d7 metadata/chromosomes/chr7.json
|
| 76 |
+
d004d38bf9090855eb16086975086509529a2d0b80806f92be00ad88aa40129d metadata/chromosomes/chr8.json
|
| 77 |
+
a51234c29d7e9caa75d677ee639c60ba14b0d1823e0fbbc276ad2b0f3645afdb metadata/chromosomes/chr9.json
|
| 78 |
+
33cc5ce21b2fb961f3b156d296fc5bc87c9d97e6f518835ededc110b62da8492 metadata/chromosomes/chrX.json
|
| 79 |
+
7ed9dfd511dbed884adfe3d015ed6e314b3d270c0ec6189656a8569d431866d1 metadata/chromosomes/chrY.json
|
| 80 |
+
a994415f75ddd59fc37f31fd87697c1f5af45b7e12283a17bd2c1699909a0b27 metadata/release-manifest.json
|
UPLOAD_READY.json
ADDED
|
@@ -0,0 +1,11 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
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|
|
|
|
|
|
| 1 |
+
{
|
| 2 |
+
"status": "passed",
|
| 3 |
+
"dataset_version": "1.0.0",
|
| 4 |
+
"records": 3408398835,
|
| 5 |
+
"chromosomes": 24,
|
| 6 |
+
"license": "CC-BY-NC-4.0",
|
| 7 |
+
"metadata_sanitized": true,
|
| 8 |
+
"records_byte_identical_to_audited_source": true,
|
| 9 |
+
"release_manifest_sha256": "a994415f75ddd59fc37f31fd87697c1f5af45b7e12283a17bd2c1699909a0b27",
|
| 10 |
+
"finalized_at": "2026-10-03T20:18:00.511235+00:00"
|
| 11 |
+
}
|
USAGE.md
ADDED
|
@@ -0,0 +1,117 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
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|
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|
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|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
# Usage
|
| 2 |
+
|
| 3 |
+
## Download
|
| 4 |
+
|
| 5 |
+
Install the Hugging Face command-line client and download the dataset:
|
| 6 |
+
|
| 7 |
+
```bash
|
| 8 |
+
python -m pip install --upgrade "huggingface_hub[hf_xet]"
|
| 9 |
+
hf download luoyiming1991/spliceai-mane-v1.5-d500-m1-snv --repo-type dataset --local-dir spliceai-mane-v1.5-d500-m1-snv
|
| 10 |
+
```
|
| 11 |
+
|
| 12 |
+
To download only one chromosome, add the corresponding include patterns:
|
| 13 |
+
|
| 14 |
+
```bash
|
| 15 |
+
hf download luoyiming1991/spliceai-mane-v1.5-d500-m1-snv \
|
| 16 |
+
--repo-type dataset \
|
| 17 |
+
--include "data/*chr21.vcf.gz" "data/*chr21.vcf.gz.tbi" \
|
| 18 |
+
--local-dir spliceai-mane-v1.5-d500-m1-snv
|
| 19 |
+
```
|
| 20 |
+
|
| 21 |
+
## Verify the release
|
| 22 |
+
|
| 23 |
+
Run checksum verification from the repository root:
|
| 24 |
+
|
| 25 |
+
```bash
|
| 26 |
+
sha256sum -c SHA256SUMS
|
| 27 |
+
```
|
| 28 |
+
|
| 29 |
+
On macOS, use:
|
| 30 |
+
|
| 31 |
+
```bash
|
| 32 |
+
shasum -a 256 -c SHA256SUMS
|
| 33 |
+
```
|
| 34 |
+
|
| 35 |
+
## Query a region
|
| 36 |
+
|
| 37 |
+
The VCFs use contig names `1`–`22`, `X`, and `Y`, without a `chr` prefix.
|
| 38 |
+
|
| 39 |
+
```bash
|
| 40 |
+
bcftools view \
|
| 41 |
+
--regions 21:31705473-31705473 \
|
| 42 |
+
data/spliceai-mane-v1.5-d500-m1.snv.chr21.vcf.gz
|
| 43 |
+
```
|
| 44 |
+
|
| 45 |
+
Query selected INFO fields:
|
| 46 |
+
|
| 47 |
+
```bash
|
| 48 |
+
bcftools query \
|
| 49 |
+
--regions 21:31705473-31705473 \
|
| 50 |
+
--format '%CHROM\t%POS\t%REF\t%ALT\t%INFO/SpliceAI\n' \
|
| 51 |
+
data/spliceai-mane-v1.5-d500-m1.snv.chr21.vcf.gz
|
| 52 |
+
```
|
| 53 |
+
|
| 54 |
+
## Annotate an existing SNV VCF
|
| 55 |
+
|
| 56 |
+
Normalize and split multiallelic records before annotation. The input must use
|
| 57 |
+
GRCh38 coordinates and contig names compatible with the annotation VCF.
|
| 58 |
+
|
| 59 |
+
```bash
|
| 60 |
+
bcftools norm \
|
| 61 |
+
--fasta-ref GRCh38.fa \
|
| 62 |
+
--multiallelics -any \
|
| 63 |
+
input.vcf.gz \
|
| 64 |
+
--output-type z \
|
| 65 |
+
--output normalized.vcf.gz
|
| 66 |
+
|
| 67 |
+
tabix --preset vcf normalized.vcf.gz
|
| 68 |
+
|
| 69 |
+
bcftools annotate \
|
| 70 |
+
--annotations data/spliceai-mane-v1.5-d500-m1.snv.chr21.vcf.gz \
|
| 71 |
+
--columns INFO/SpliceAI \
|
| 72 |
+
--output-type z \
|
| 73 |
+
--output annotated.chr21.vcf.gz \
|
| 74 |
+
normalized.chr21.vcf.gz
|
| 75 |
+
|
| 76 |
+
tabix --preset vcf annotated.chr21.vcf.gz
|
| 77 |
+
```
|
| 78 |
+
|
| 79 |
+
For a genome-wide input, split by chromosome and use the corresponding
|
| 80 |
+
annotation file, then concatenate the annotated outputs in reference contig
|
| 81 |
+
order. The separate VEP integration project will provide a pinned VEP plugin
|
| 82 |
+
and workflow; it is not part of this dataset release.
|
| 83 |
+
|
| 84 |
+
## SpliceAI field interpretation
|
| 85 |
+
|
| 86 |
+
```text
|
| 87 |
+
ALLELE|SYMBOL|DS_AG|DS_AL|DS_DG|DS_DL|DP_AG|DP_AL|DP_DG|DP_DL
|
| 88 |
+
```
|
| 89 |
+
|
| 90 |
+
- `DS_AG`: acceptor-gain delta score
|
| 91 |
+
- `DS_AL`: acceptor-loss delta score
|
| 92 |
+
- `DS_DG`: donor-gain delta score
|
| 93 |
+
- `DS_DL`: donor-loss delta score
|
| 94 |
+
- `DP_AG`, `DP_AL`, `DP_DG`, `DP_DL`: signed positions relative to the variant
|
| 95 |
+
|
| 96 |
+
Scores range from 0 to 1 and are stored to two decimal places. No cutoff is
|
| 97 |
+
applied in the dataset. Delta positions should be interpreted together with
|
| 98 |
+
their corresponding scores, especially when the displayed score is `0.00`.
|
| 99 |
+
|
| 100 |
+
`M=1` means predictions corresponding to annotated splice-site gains and
|
| 101 |
+
unannotated splice-site losses are masked following SpliceAI semantics.
|
| 102 |
+
`D=500` means the reported maximum score and position were selected within a
|
| 103 |
+
500-nucleotide search distance on either side of the variant.
|
| 104 |
+
|
| 105 |
+
## Programmatic access with pysam
|
| 106 |
+
|
| 107 |
+
```python
|
| 108 |
+
import pysam
|
| 109 |
+
|
| 110 |
+
path = "data/spliceai-mane-v1.5-d500-m1.snv.chr21.vcf.gz"
|
| 111 |
+
with pysam.VariantFile(path) as variants:
|
| 112 |
+
for record in variants.fetch("21", 31_705_472, 31_705_473):
|
| 113 |
+
print(record.chrom, record.pos, record.ref, record.alts, record.info["SpliceAI"])
|
| 114 |
+
```
|
| 115 |
+
|
| 116 |
+
The `pysam.fetch` interval is zero-based, half-open, while `record.pos` is
|
| 117 |
+
one-based as specified by VCF.
|
data/spliceai-mane-v1.5-d500-m1.snv.chr10.vcf.gz.tbi
ADDED
|
Binary file (58.7 kB). View file
|
|
|
data/spliceai-mane-v1.5-d500-m1.snv.chr11.vcf.gz.tbi
ADDED
|
Binary file (62.1 kB). View file
|
|
|
data/spliceai-mane-v1.5-d500-m1.snv.chr12.vcf.gz.tbi
ADDED
|
Binary file (63 kB). View file
|
|
|
data/spliceai-mane-v1.5-d500-m1.snv.chr13.vcf.gz.tbi
ADDED
|
Binary file (33.3 kB). View file
|
|
|
data/spliceai-mane-v1.5-d500-m1.snv.chr14.vcf.gz.tbi
ADDED
|
Binary file (39.7 kB). View file
|
|
|
data/spliceai-mane-v1.5-d500-m1.snv.chr15.vcf.gz.tbi
ADDED
|
Binary file (42.2 kB). View file
|
|
|
data/spliceai-mane-v1.5-d500-m1.snv.chr16.vcf.gz.tbi
ADDED
|
Binary file (40.7 kB). View file
|
|
|
data/spliceai-mane-v1.5-d500-m1.snv.chr17.vcf.gz.tbi
ADDED
|
Binary file (48.2 kB). View file
|
|
|
data/spliceai-mane-v1.5-d500-m1.snv.chr18.vcf.gz.tbi
ADDED
|
Binary file (27.4 kB). View file
|
|
|
data/spliceai-mane-v1.5-d500-m1.snv.chr19.vcf.gz.tbi
ADDED
|
Binary file (38 kB). View file
|
|
|
data/spliceai-mane-v1.5-d500-m1.snv.chr20.vcf.gz.tbi
ADDED
|
Binary file (30.7 kB). View file
|
|
|
data/spliceai-mane-v1.5-d500-m1.snv.chr21.vcf.gz.tbi
ADDED
|
Binary file (9.13 kB). View file
|
|
|
data/spliceai-mane-v1.5-d500-m1.snv.chr22.vcf.gz.tbi
ADDED
|
Binary file (19.5 kB). View file
|
|
|
data/spliceai-mane-v1.5-d500-m1.snv.chr3.vcf.gz.tbi
ADDED
|
Binary file (92.1 kB). View file
|
|
|
data/spliceai-mane-v1.5-d500-m1.snv.chr4.vcf.gz.tbi
ADDED
|
Binary file (70.1 kB). View file
|
|
|
data/spliceai-mane-v1.5-d500-m1.snv.chr5.vcf.gz.tbi
ADDED
|
Binary file (68.3 kB). View file
|
|
|
data/spliceai-mane-v1.5-d500-m1.snv.chr6.vcf.gz.tbi
ADDED
|
Binary file (72.6 kB). View file
|
|
|
data/spliceai-mane-v1.5-d500-m1.snv.chr7.vcf.gz.tbi
ADDED
|
Binary file (75.5 kB). View file
|
|
|
data/spliceai-mane-v1.5-d500-m1.snv.chr8.vcf.gz.tbi
ADDED
|
Binary file (54.5 kB). View file
|
|
|
data/spliceai-mane-v1.5-d500-m1.snv.chr9.vcf.gz.tbi
ADDED
|
Binary file (49.9 kB). View file
|
|
|
data/spliceai-mane-v1.5-d500-m1.snv.chrX.vcf.gz.tbi
ADDED
|
Binary file (51.1 kB). View file
|
|
|
data/spliceai-mane-v1.5-d500-m1.snv.chrY.vcf.gz.tbi
ADDED
|
Binary file (2.43 kB). View file
|
|
|
metadata/broad-validation-summary.json
ADDED
|
@@ -0,0 +1,47 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
{
|
| 2 |
+
"validation_date": "2026-10-03",
|
| 3 |
+
"endpoint": "https://spliceai-38-xwkwwwxdwq-uc.a.run.app/spliceai/",
|
| 4 |
+
"genome_assembly": "GRCh38",
|
| 5 |
+
"distance": 500,
|
| 6 |
+
"mask": 1,
|
| 7 |
+
"certificate_verification_disabled": false,
|
| 8 |
+
"sets": [
|
| 9 |
+
{
|
| 10 |
+
"name": "chromosome-balanced-random",
|
| 11 |
+
"sampling_design": "Four uniformly sampled production records per primary chromosome",
|
| 12 |
+
"seed": 20261003,
|
| 13 |
+
"queries": 96,
|
| 14 |
+
"comparisons_performed": 96,
|
| 15 |
+
"matched_mane_select": 96,
|
| 16 |
+
"response_parameters_match": 96,
|
| 17 |
+
"local_unscored": 0,
|
| 18 |
+
"position_fields_different": 0,
|
| 19 |
+
"max_score_difference": 0.005,
|
| 20 |
+
"passed": true
|
| 21 |
+
},
|
| 22 |
+
{
|
| 23 |
+
"name": "chromosome-balanced-high-score",
|
| 24 |
+
"sampling_design": "One randomly selected variant-gene pair with maximum local delta score at least 0.20 per primary chromosome",
|
| 25 |
+
"seed": 20261004,
|
| 26 |
+
"queries": 24,
|
| 27 |
+
"comparisons_performed": 24,
|
| 28 |
+
"matched_mane_select": 24,
|
| 29 |
+
"response_parameters_match": 24,
|
| 30 |
+
"local_unscored": 0,
|
| 31 |
+
"position_fields_different": 0,
|
| 32 |
+
"max_score_difference": 0.0050000000000000044,
|
| 33 |
+
"passed": true
|
| 34 |
+
}
|
| 35 |
+
],
|
| 36 |
+
"combined": {
|
| 37 |
+
"queries": 120,
|
| 38 |
+
"comparisons_performed": 120,
|
| 39 |
+
"matched_mane_select": 120,
|
| 40 |
+
"response_parameters_match": 120,
|
| 41 |
+
"local_unscored": 0,
|
| 42 |
+
"position_fields_different": 0,
|
| 43 |
+
"max_score_difference": 0.0050000000000000044,
|
| 44 |
+
"passed": true
|
| 45 |
+
},
|
| 46 |
+
"interpretation": "The public VCF stores scores to two decimal places and the Broad response stores three; a maximum difference of 0.005 is consistent with two-decimal quantization."
|
| 47 |
+
}
|
metadata/chromosomes/chr1.json
ADDED
|
@@ -0,0 +1,16 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
{
|
| 2 |
+
"status": "passed",
|
| 3 |
+
"contig": "1",
|
| 4 |
+
"file": "data/spliceai-mane-v1.5-d500-m1.snv.chr1.vcf.gz",
|
| 5 |
+
"index_file": "data/spliceai-mane-v1.5-d500-m1.snv.chr1.vcf.gz.tbi",
|
| 6 |
+
"records": 303270507,
|
| 7 |
+
"source_vcf_sha256": "def5b0903fc4c3f3791e13fea97aa694dd38d9568d541cdf1a7ffcd323ff58e9",
|
| 8 |
+
"record_body_sha256": "7158aeddc348e08a34e1098c2b33c2cacd1d4956bada2901c044caffbe2fa5ab",
|
| 9 |
+
"vcf_sha256": "29cb0e70c3b6d75a4693170ffeeb758b5f5ce1ed2406eebdf106543c86623968",
|
| 10 |
+
"index_sha256": "df20352836c000ecdc2f6035921b927639b3ede009d56000603f6b8dc039b277",
|
| 11 |
+
"vcf_bytes": 3050347481,
|
| 12 |
+
"index_bytes": 117186,
|
| 13 |
+
"header_sanitized": true,
|
| 14 |
+
"records_byte_identical_to_audited_source": true,
|
| 15 |
+
"completed_at": "2026-10-03T19:42:51.466299+00:00"
|
| 16 |
+
}
|
metadata/chromosomes/chr10.json
ADDED
|
@@ -0,0 +1,16 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
{
|
| 2 |
+
"status": "passed",
|
| 3 |
+
"contig": "10",
|
| 4 |
+
"file": "data/spliceai-mane-v1.5-d500-m1.snv.chr10.vcf.gz",
|
| 5 |
+
"index_file": "data/spliceai-mane-v1.5-d500-m1.snv.chr10.vcf.gz.tbi",
|
| 6 |
+
"records": 171040761,
|
| 7 |
+
"source_vcf_sha256": "6c0ce0d1ac0be9db6cebe3452bc43135b43b1b8cfc9da631dcdca44c3fdcc13f",
|
| 8 |
+
"record_body_sha256": "b56a7810c29a463d541cc910080281eb106c1cee9c6518e1303024d9c0c71685",
|
| 9 |
+
"vcf_sha256": "bd473f11506a420f5710f74434e2ba9ef4f7c71565d1fce5a5591dc5bc83ef0c",
|
| 10 |
+
"index_sha256": "c4a4a7a59f6ce33927860eb012fda55d3039305515e1cf0d9ef52ff48622bf98",
|
| 11 |
+
"vcf_bytes": 1721877711,
|
| 12 |
+
"index_bytes": 58659,
|
| 13 |
+
"header_sanitized": true,
|
| 14 |
+
"records_byte_identical_to_audited_source": true,
|
| 15 |
+
"completed_at": "2026-10-03T19:44:22.510625+00:00"
|
| 16 |
+
}
|
metadata/chromosomes/chr11.json
ADDED
|
@@ -0,0 +1,16 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
{
|
| 2 |
+
"status": "passed",
|
| 3 |
+
"contig": "11",
|
| 4 |
+
"file": "data/spliceai-mane-v1.5-d500-m1.snv.chr11.vcf.gz",
|
| 5 |
+
"index_file": "data/spliceai-mane-v1.5-d500-m1.snv.chr11.vcf.gz.tbi",
|
| 6 |
+
"records": 170523186,
|
| 7 |
+
"source_vcf_sha256": "80a99a2a89c7f5ab3bf9546b6ceb6216e3507611caf21084d67381deabc869c3",
|
| 8 |
+
"record_body_sha256": "87fd34cdaf9f4253db6eafcf8e118bdb601764dc20e6bee4425fb2f0baf72e32",
|
| 9 |
+
"vcf_sha256": "890a235c7e12d4a9cf8293e36a6f2fbaf82a5089e44270dfcde85a5a83e9eb8e",
|
| 10 |
+
"index_sha256": "ec565feeac869bfc5e3a01025d2af5e07edea43d5440140734321e9e573b991d",
|
| 11 |
+
"vcf_bytes": 1718797413,
|
| 12 |
+
"index_bytes": 62106,
|
| 13 |
+
"header_sanitized": true,
|
| 14 |
+
"records_byte_identical_to_audited_source": true,
|
| 15 |
+
"completed_at": "2026-10-03T19:44:05.921426+00:00"
|
| 16 |
+
}
|
metadata/chromosomes/chr12.json
ADDED
|
@@ -0,0 +1,16 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
{
|
| 2 |
+
"status": "passed",
|
| 3 |
+
"contig": "12",
|
| 4 |
+
"file": "data/spliceai-mane-v1.5-d500-m1.snv.chr12.vcf.gz",
|
| 5 |
+
"index_file": "data/spliceai-mane-v1.5-d500-m1.snv.chr12.vcf.gz.tbi",
|
| 6 |
+
"records": 168421740,
|
| 7 |
+
"source_vcf_sha256": "1c430bbe362b698db6763f01ff3ce17d4bdf884334be736ec5469e8dccc87345",
|
| 8 |
+
"record_body_sha256": "5ed69f0658aeb44b67b7435590bc31006ced84e8290d8737d776332aa341e7ae",
|
| 9 |
+
"vcf_sha256": "5b20bd9bee396f3283ce80110779eb9518ec9fbe90faa053622693885f25d187",
|
| 10 |
+
"index_sha256": "56cf31fe46eb876424246481b0ee61919bdf56009f496ab61b229a34a80306e4",
|
| 11 |
+
"vcf_bytes": 1692803584,
|
| 12 |
+
"index_bytes": 62963,
|
| 13 |
+
"header_sanitized": true,
|
| 14 |
+
"records_byte_identical_to_audited_source": true,
|
| 15 |
+
"completed_at": "2026-10-03T19:44:23.307666+00:00"
|
| 16 |
+
}
|
metadata/chromosomes/chr13.json
ADDED
|
@@ -0,0 +1,16 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
{
|
| 2 |
+
"status": "passed",
|
| 3 |
+
"contig": "13",
|
| 4 |
+
"file": "data/spliceai-mane-v1.5-d500-m1.snv.chr13.vcf.gz",
|
| 5 |
+
"index_file": "data/spliceai-mane-v1.5-d500-m1.snv.chr13.vcf.gz.tbi",
|
| 6 |
+
"records": 88546665,
|
| 7 |
+
"source_vcf_sha256": "17093b80bb4f6295a8a8c76272c6ad75e6827c583e5896d244eb385c06aa76f9",
|
| 8 |
+
"record_body_sha256": "cc2bb300b32e1596ad97a27be15d2849b66ed8c313ef99957e1a2ce5723c1389",
|
| 9 |
+
"vcf_sha256": "5696127272eba15545e34c1b1366d95ca359b315244276b0db93f6225dbb0a9d",
|
| 10 |
+
"index_sha256": "b7057ae59188043a24c3828c6b500a47fa228ee34350ec2319983bab7f404d4c",
|
| 11 |
+
"vcf_bytes": 885414078,
|
| 12 |
+
"index_bytes": 33298,
|
| 13 |
+
"header_sanitized": true,
|
| 14 |
+
"records_byte_identical_to_audited_source": true,
|
| 15 |
+
"completed_at": "2026-10-03T19:43:21.168209+00:00"
|
| 16 |
+
}
|
metadata/chromosomes/chr14.json
ADDED
|
@@ -0,0 +1,16 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
{
|
| 2 |
+
"status": "passed",
|
| 3 |
+
"contig": "14",
|
| 4 |
+
"file": "data/spliceai-mane-v1.5-d500-m1.snv.chr14.vcf.gz",
|
| 5 |
+
"index_file": "data/spliceai-mane-v1.5-d500-m1.snv.chr14.vcf.gz.tbi",
|
| 6 |
+
"records": 104534424,
|
| 7 |
+
"source_vcf_sha256": "53fb94b427afc92fcf6b1d6f7a96fff6ecbb6c0a480708fe4021bced60a7aad0",
|
| 8 |
+
"record_body_sha256": "87aaf49cf2ed444b43c6de43cdd60d69861d7299d551fddd633929ca5d0dea32",
|
| 9 |
+
"vcf_sha256": "34d821ef3de765be6a69fe1e3d6601e8bd5104e529150313c1b120e3e3795568",
|
| 10 |
+
"index_sha256": "33c95f949937916fd3ae35a0bd240e5a2f4fb847d16345b966adce45942aa5c9",
|
| 11 |
+
"vcf_bytes": 1049756034,
|
| 12 |
+
"index_bytes": 39749,
|
| 13 |
+
"header_sanitized": true,
|
| 14 |
+
"records_byte_identical_to_audited_source": true,
|
| 15 |
+
"completed_at": "2026-10-03T19:44:23.520211+00:00"
|
| 16 |
+
}
|
metadata/chromosomes/chr15.json
ADDED
|
@@ -0,0 +1,16 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
{
|
| 2 |
+
"status": "passed",
|
| 3 |
+
"contig": "15",
|
| 4 |
+
"file": "data/spliceai-mane-v1.5-d500-m1.snv.chr15.vcf.gz",
|
| 5 |
+
"index_file": "data/spliceai-mane-v1.5-d500-m1.snv.chr15.vcf.gz.tbi",
|
| 6 |
+
"records": 113256723,
|
| 7 |
+
"source_vcf_sha256": "dcf2c9bb2cfe8d6d8720e1924a87475827146728ecf656bbf2da94632eaa1806",
|
| 8 |
+
"record_body_sha256": "d03919f4052d91f74bfcd62756dc522a33af1909056505f58412e01f4ca89562",
|
| 9 |
+
"vcf_sha256": "cc873312d984295393fd374f8f19442cda4a57cd5fdde8e75f2fdb975030fa5b",
|
| 10 |
+
"index_sha256": "20ed9e4d995e04289ef60a39921534f7875f380984f8c23dfa7ca9cd3386a7b3",
|
| 11 |
+
"vcf_bytes": 1141891885,
|
| 12 |
+
"index_bytes": 42189,
|
| 13 |
+
"header_sanitized": true,
|
| 14 |
+
"records_byte_identical_to_audited_source": true,
|
| 15 |
+
"completed_at": "2026-10-03T19:45:44.568547+00:00"
|
| 16 |
+
}
|
metadata/chromosomes/chr16.json
ADDED
|
@@ -0,0 +1,16 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
{
|
| 2 |
+
"status": "passed",
|
| 3 |
+
"contig": "16",
|
| 4 |
+
"file": "data/spliceai-mane-v1.5-d500-m1.snv.chr16.vcf.gz",
|
| 5 |
+
"index_file": "data/spliceai-mane-v1.5-d500-m1.snv.chr16.vcf.gz.tbi",
|
| 6 |
+
"records": 101622477,
|
| 7 |
+
"source_vcf_sha256": "729ce3c2b6800fde44a0f5eb901343866378af04e9976bdb059e102b933f56b0",
|
| 8 |
+
"record_body_sha256": "705d9c92b9a2144084fc2086f64aa758df00b20b37b49767abb87afe14539b9f",
|
| 9 |
+
"vcf_sha256": "c86a86be08a54d22e282615ac02202b1286c4916e8952d025526d8fa6796fb0a",
|
| 10 |
+
"index_sha256": "77c396eb36949b8e5c3b5bd5b4acdeba169038d9fbd54a83db873efba33dabad",
|
| 11 |
+
"vcf_bytes": 1029091192,
|
| 12 |
+
"index_bytes": 40737,
|
| 13 |
+
"header_sanitized": true,
|
| 14 |
+
"records_byte_identical_to_audited_source": true,
|
| 15 |
+
"completed_at": "2026-10-03T19:45:48.528631+00:00"
|
| 16 |
+
}
|
metadata/chromosomes/chr17.json
ADDED
|
@@ -0,0 +1,16 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
{
|
| 2 |
+
"status": "passed",
|
| 3 |
+
"contig": "17",
|
| 4 |
+
"file": "data/spliceai-mane-v1.5-d500-m1.snv.chr17.vcf.gz",
|
| 5 |
+
"index_file": "data/spliceai-mane-v1.5-d500-m1.snv.chr17.vcf.gz.tbi",
|
| 6 |
+
"records": 121414488,
|
| 7 |
+
"source_vcf_sha256": "869aadfebcb1bd89f0a9da49d6258b75aaa4ed9935f35e8b6819444efdfba4a3",
|
| 8 |
+
"record_body_sha256": "998f697b26e9065834aaeaa91ca150a462d8a77256202d90f8f0dd9466c3aed4",
|
| 9 |
+
"vcf_sha256": "b43c8183fa94af812f6fbac2573d792b3b77630562a6a1103c50f172968bb1d6",
|
| 10 |
+
"index_sha256": "1ef88d3245d25b2371eb5cf60993db30fb298c7958f97aec5d1e82b36cdbda8b",
|
| 11 |
+
"vcf_bytes": 1230577929,
|
| 12 |
+
"index_bytes": 48158,
|
| 13 |
+
"header_sanitized": true,
|
| 14 |
+
"records_byte_identical_to_audited_source": true,
|
| 15 |
+
"completed_at": "2026-10-03T19:46:21.113155+00:00"
|
| 16 |
+
}
|
metadata/chromosomes/chr18.json
ADDED
|
@@ -0,0 +1,16 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
{
|
| 2 |
+
"status": "passed",
|
| 3 |
+
"contig": "18",
|
| 4 |
+
"file": "data/spliceai-mane-v1.5-d500-m1.snv.chr18.vcf.gz",
|
| 5 |
+
"index_file": "data/spliceai-mane-v1.5-d500-m1.snv.chr18.vcf.gz.tbi",
|
| 6 |
+
"records": 81448443,
|
| 7 |
+
"source_vcf_sha256": "4fa2c7f2cd5a324b2dec6392dae57a0d909854515d68ae65cb0c995f1724b128",
|
| 8 |
+
"record_body_sha256": "ad36a41ebdd3eb63d033c0df595d07a7d4a55264354774edfbc51ac7844e6dcc",
|
| 9 |
+
"vcf_sha256": "11b54f06d3c5b93c972072ccd905ea5af8526f21e80ec8d82a98a0523da7e0d9",
|
| 10 |
+
"index_sha256": "8b2034f99aac2cd1dbc8efb71dec2b1d23e55864dffb65864f16c9907147605b",
|
| 11 |
+
"vcf_bytes": 814055491,
|
| 12 |
+
"index_bytes": 27429,
|
| 13 |
+
"header_sanitized": true,
|
| 14 |
+
"records_byte_identical_to_audited_source": true,
|
| 15 |
+
"completed_at": "2026-10-03T19:45:18.746452+00:00"
|
| 16 |
+
}
|
metadata/chromosomes/chr19.json
ADDED
|
@@ -0,0 +1,16 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
{
|
| 2 |
+
"status": "passed",
|
| 3 |
+
"contig": "19",
|
| 4 |
+
"file": "data/spliceai-mane-v1.5-d500-m1.snv.chr19.vcf.gz",
|
| 5 |
+
"index_file": "data/spliceai-mane-v1.5-d500-m1.snv.chr19.vcf.gz.tbi",
|
| 6 |
+
"records": 83305044,
|
| 7 |
+
"source_vcf_sha256": "0592826c781f383976b73eb633def2a6ec053af2390590d95426ca21a4e291c2",
|
| 8 |
+
"record_body_sha256": "77586e526d6cbd1dc9172fe5101359ef52417fca2b051683299ce5d6c26fd668",
|
| 9 |
+
"vcf_sha256": "af571fa2273fdae57d6b9b21400a15c42c4a1b725b1a65c548ed9e15f9b12587",
|
| 10 |
+
"index_sha256": "09bd7171b285d905e4fc9ce06331cd3f03a838f6bf581920c6b4a21cc67032c6",
|
| 11 |
+
"vcf_bytes": 849404042,
|
| 12 |
+
"index_bytes": 38014,
|
| 13 |
+
"header_sanitized": true,
|
| 14 |
+
"records_byte_identical_to_audited_source": true,
|
| 15 |
+
"completed_at": "2026-10-03T19:46:16.984035+00:00"
|
| 16 |
+
}
|
metadata/chromosomes/chr2.json
ADDED
|
@@ -0,0 +1,16 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
{
|
| 2 |
+
"status": "passed",
|
| 3 |
+
"contig": "2",
|
| 4 |
+
"file": "data/spliceai-mane-v1.5-d500-m1.snv.chr2.vcf.gz",
|
| 5 |
+
"index_file": "data/spliceai-mane-v1.5-d500-m1.snv.chr2.vcf.gz.tbi",
|
| 6 |
+
"records": 282899268,
|
| 7 |
+
"source_vcf_sha256": "4cd94d6f5491bf87de358bbd1d2adafc4a41ff9646fc4bba3f6f52e74ff93e09",
|
| 8 |
+
"record_body_sha256": "e78c11f9782c0c67d5704049ffb10cf0f1ff6e2954bc3a9c945cd212ab25fa45",
|
| 9 |
+
"vcf_sha256": "2d226b3d2b4f81869e6f5615feff2bd95cdb38fdc7dd3dc79481227ca476162f",
|
| 10 |
+
"index_sha256": "e9b33f41ff0018d9d0657aa09342e17b866bae88fba0cf518c664719e7a3e4b7",
|
| 11 |
+
"vcf_bytes": 2841450189,
|
| 12 |
+
"index_bytes": 103593,
|
| 13 |
+
"header_sanitized": true,
|
| 14 |
+
"records_byte_identical_to_audited_source": true,
|
| 15 |
+
"completed_at": "2026-10-03T19:43:05.604625+00:00"
|
| 16 |
+
}
|
metadata/chromosomes/chr20.json
ADDED
|
@@ -0,0 +1,16 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
{
|
| 2 |
+
"status": "passed",
|
| 3 |
+
"contig": "20",
|
| 4 |
+
"file": "data/spliceai-mane-v1.5-d500-m1.snv.chr20.vcf.gz",
|
| 5 |
+
"index_file": "data/spliceai-mane-v1.5-d500-m1.snv.chr20.vcf.gz.tbi",
|
| 6 |
+
"records": 78670518,
|
| 7 |
+
"source_vcf_sha256": "7ed8bdbda555ad69253fa1bb1c19f2a65e507da2dad2a0ec019d9605bba74ef6",
|
| 8 |
+
"record_body_sha256": "8235bd11e90030431b2b5dcb1bf653307f885c9caff3d2fb753d402bf6c7677c",
|
| 9 |
+
"vcf_sha256": "b0b31b311afdf7e967963cd7e2f011e5a2aeba21040adde2383814656a0f5ee0",
|
| 10 |
+
"index_sha256": "b2211741b10a6d8333922f83f13312035efad23b199e86b79fd266a54292e93d",
|
| 11 |
+
"vcf_bytes": 791939264,
|
| 12 |
+
"index_bytes": 30742,
|
| 13 |
+
"header_sanitized": true,
|
| 14 |
+
"records_byte_identical_to_audited_source": true,
|
| 15 |
+
"completed_at": "2026-10-03T19:45:56.571752+00:00"
|
| 16 |
+
}
|
metadata/chromosomes/chr21.json
ADDED
|
@@ -0,0 +1,16 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
{
|
| 2 |
+
"status": "passed",
|
| 3 |
+
"contig": "21",
|
| 4 |
+
"file": "data/spliceai-mane-v1.5-d500-m1.snv.chr21.vcf.gz",
|
| 5 |
+
"index_file": "data/spliceai-mane-v1.5-d500-m1.snv.chr21.vcf.gz.tbi",
|
| 6 |
+
"records": 31524024,
|
| 7 |
+
"source_vcf_sha256": "0bbd90bac3b18b2892c64296fa80745db0a2dedd1a13826be0baacb47a6d10c8",
|
| 8 |
+
"record_body_sha256": "40f7b3cd4ca7802bebfe457150b5460a3757ae378d29953a514d7ffed70bc6c7",
|
| 9 |
+
"vcf_sha256": "7e14de394c9b53b04cdb4055ad5c7822a911cfa3e8b2ebd9767e72f03edd546a",
|
| 10 |
+
"index_sha256": "ffb7282611518c4645ce4e12e8cbfe7b8c4625c1a702914ef570f03c761c55b3",
|
| 11 |
+
"vcf_bytes": 317833149,
|
| 12 |
+
"index_bytes": 9132,
|
| 13 |
+
"header_sanitized": true,
|
| 14 |
+
"records_byte_identical_to_audited_source": true,
|
| 15 |
+
"completed_at": "2026-10-03T19:45:12.225564+00:00"
|
| 16 |
+
}
|
metadata/chromosomes/chr22.json
ADDED
|
@@ -0,0 +1,16 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
{
|
| 2 |
+
"status": "passed",
|
| 3 |
+
"contig": "22",
|
| 4 |
+
"file": "data/spliceai-mane-v1.5-d500-m1.snv.chr22.vcf.gz",
|
| 5 |
+
"index_file": "data/spliceai-mane-v1.5-d500-m1.snv.chr22.vcf.gz.tbi",
|
| 6 |
+
"records": 52479885,
|
| 7 |
+
"source_vcf_sha256": "f4905ed969f05d99856338a700747c134120748f6a0a67031e4280c0fc3ff09d",
|
| 8 |
+
"record_body_sha256": "6fa9992e1fe0efad503d48d7df60af71f0c14d32c6c618a5276172e3c3543b2e",
|
| 9 |
+
"vcf_sha256": "984e7258599bed52e963f044e3e19ee373a793680f9d3e797e9953adff04c815",
|
| 10 |
+
"index_sha256": "df84f60901441faebfd699ca7044b129eb84e1f932ad0b9c72ce91ede5dbb686",
|
| 11 |
+
"vcf_bytes": 533768173,
|
| 12 |
+
"index_bytes": 19469,
|
| 13 |
+
"header_sanitized": true,
|
| 14 |
+
"records_byte_identical_to_audited_source": true,
|
| 15 |
+
"completed_at": "2026-10-03T19:45:42.764284+00:00"
|
| 16 |
+
}
|
metadata/chromosomes/chr3.json
ADDED
|
@@ -0,0 +1,16 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
{
|
| 2 |
+
"status": "passed",
|
| 3 |
+
"contig": "3",
|
| 4 |
+
"file": "data/spliceai-mane-v1.5-d500-m1.snv.chr3.vcf.gz",
|
| 5 |
+
"index_file": "data/spliceai-mane-v1.5-d500-m1.snv.chr3.vcf.gz.tbi",
|
| 6 |
+
"records": 250449807,
|
| 7 |
+
"source_vcf_sha256": "64328fb266f23ef9bce2f37130eadacc09720dec7340c6b31b0f57ffaf0887a7",
|
| 8 |
+
"record_body_sha256": "8fe1367a197b457e47cc7fb6fa391a197959f479eacb29745ae6f0ce8ec98f85",
|
| 9 |
+
"vcf_sha256": "84808447be6ea52c0254d3765c4d90f5d28e95743ce336b7e59037ce071deb8c",
|
| 10 |
+
"index_sha256": "bf00d3fe1c12d5a04f3a23b7d0636cec54338cea311bb89f313cd29a4d58099d",
|
| 11 |
+
"vcf_bytes": 2517393591,
|
| 12 |
+
"index_bytes": 92098,
|
| 13 |
+
"header_sanitized": true,
|
| 14 |
+
"records_byte_identical_to_audited_source": true,
|
| 15 |
+
"completed_at": "2026-10-03T19:41:50.430453+00:00"
|
| 16 |
+
}
|
metadata/chromosomes/chr4.json
ADDED
|
@@ -0,0 +1,16 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
{
|
| 2 |
+
"status": "passed",
|
| 3 |
+
"contig": "4",
|
| 4 |
+
"file": "data/spliceai-mane-v1.5-d500-m1.snv.chr4.vcf.gz",
|
| 5 |
+
"index_file": "data/spliceai-mane-v1.5-d500-m1.snv.chr4.vcf.gz.tbi",
|
| 6 |
+
"records": 188859876,
|
| 7 |
+
"source_vcf_sha256": "1b8af71c799790f26231b14002a9113a962de1c2fc9b496fd02cd2305e375fe3",
|
| 8 |
+
"record_body_sha256": "9d960e3215b1efd9e8f297ea8cd37a7670c4b7c6b1a8de0f0af071942e9af7ed",
|
| 9 |
+
"vcf_sha256": "1bb495e24836e747f28eb46f0b419a30bfdec3ff962a49bff7e4045affba15dd",
|
| 10 |
+
"index_sha256": "22f8ca2d24eb8a045e33cc323555ba3f2246adaa0489c69f0a87fa9460288f89",
|
| 11 |
+
"vcf_bytes": 1888848087,
|
| 12 |
+
"index_bytes": 70068,
|
| 13 |
+
"header_sanitized": true,
|
| 14 |
+
"records_byte_identical_to_audited_source": true,
|
| 15 |
+
"completed_at": "2026-10-03T19:40:36.307253+00:00"
|
| 16 |
+
}
|
metadata/chromosomes/chr5.json
ADDED
|
@@ -0,0 +1,16 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
{
|
| 2 |
+
"status": "passed",
|
| 3 |
+
"contig": "5",
|
| 4 |
+
"file": "data/spliceai-mane-v1.5-d500-m1.snv.chr5.vcf.gz",
|
| 5 |
+
"index_file": "data/spliceai-mane-v1.5-d500-m1.snv.chr5.vcf.gz.tbi",
|
| 6 |
+
"records": 182858010,
|
| 7 |
+
"source_vcf_sha256": "606e8a1a22201e10bdfc366bae6011b4d79dd8685c39788d2e0d9b7050bf6d13",
|
| 8 |
+
"record_body_sha256": "31cfd927be3736fc06290b33757cefc89a793676b29ed03698f0071ca2c21f85",
|
| 9 |
+
"vcf_sha256": "e35daa3b87955ef6c84e4e1a9a150a51937d48fe67440d5292858a0de944f5b5",
|
| 10 |
+
"index_sha256": "d2d7306728714a009b46caa2dbdccfe2f668cd819d1403f34d6a7f505d73d1cf",
|
| 11 |
+
"vcf_bytes": 1884302878,
|
| 12 |
+
"index_bytes": 68343,
|
| 13 |
+
"header_sanitized": true,
|
| 14 |
+
"records_byte_identical_to_audited_source": true,
|
| 15 |
+
"completed_at": "2026-10-03T19:40:28.773662+00:00"
|
| 16 |
+
}
|
metadata/chromosomes/chr6.json
ADDED
|
@@ -0,0 +1,16 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
{
|
| 2 |
+
"status": "passed",
|
| 3 |
+
"contig": "6",
|
| 4 |
+
"file": "data/spliceai-mane-v1.5-d500-m1.snv.chr6.vcf.gz",
|
| 5 |
+
"index_file": "data/spliceai-mane-v1.5-d500-m1.snv.chr6.vcf.gz.tbi",
|
| 6 |
+
"records": 191504190,
|
| 7 |
+
"source_vcf_sha256": "b6d249954061291a0d02b6d8fd59fe07459283f690e6709191fbe8cd3725bf57",
|
| 8 |
+
"record_body_sha256": "ed407f96833d6638aab1579f3762388330906d930bad9a1a816a62826e79a899",
|
| 9 |
+
"vcf_sha256": "e07b894c1b244945423cd0c2f27a7c5c777d990ed63974a5c0059c41b9e019b3",
|
| 10 |
+
"index_sha256": "0903f414b9df015cbbcc20192d22b338ba201f87b2986e3811e98c27483e0502",
|
| 11 |
+
"vcf_bytes": 1920525261,
|
| 12 |
+
"index_bytes": 72579,
|
| 13 |
+
"header_sanitized": true,
|
| 14 |
+
"records_byte_identical_to_audited_source": true,
|
| 15 |
+
"completed_at": "2026-10-03T19:40:32.726773+00:00"
|
| 16 |
+
}
|
metadata/release-manifest.json
ADDED
|
@@ -0,0 +1,366 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
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|
|
|
|
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|
|
|
|
|
|
|
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|
|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
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|
|
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|
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|
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|
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|
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|
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|
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