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Duplicate
The dataset viewer is not available for this split.
Cannot load the dataset split (in streaming mode) to extract the first rows.
Error code:   StreamingRowsError
Exception:    CastError
Message:      Couldn't cast
status: string
counts: struct<records: int64, cadd_exact: int64, alphamissense_exact: int64, spliceai_exact: int64, splicea (... 32 chars omitted)
  child 0, records: int64
  child 1, cadd_exact: int64
  child 2, alphamissense_exact: int64
  child 3, spliceai_exact: int64
  child 4, spliceai_missing_symbol_rescued: int64
engine_image_id: string
alphamissense_version_collision_regressions: list<item: string>
  child 0, item: string
indexed_plugin: struct<name: string, size_bytes: int64, sha256: string>
  child 0, name: string
  child 1, size_bytes: int64
  child 2, sha256: string
baked_plugins: struct<IndexedScores.pm: struct<name: string, size_bytes: int64, sha256: string>, SpliceAIStarter.pm (... 147 chars omitted)
  child 0, IndexedScores.pm: struct<name: string, size_bytes: int64, sha256: string>
      child 0, name: string
      child 1, size_bytes: int64
      child 2, sha256: string
  child 1, SpliceAIStarter.pm: struct<name: string, size_bytes: int64, sha256: string>
      child 0, name: string
      child 1, size_bytes: int64
      child 2, sha256: string
  child 2, SpliceAI-MANE1.5-gene-map.json: struct<name: string, size_bytes: int64, sha256: string>
      child 0, name: string
      child 1, size_bytes: int64
      child 2, sha256: string
input: struct<name: string, size_bytes: int64, sha256: string>
  child 0, name: string
  child 1, size_bytes: int64
  child 2, sha256: string
output: struct<name: string, size_bytes: int64, sha256: string>
  child 0, name: string

...
ing, transport: string, checks: list<item: string>>
  child 0, status: string
  child 1, transport: string
  child 2, checks: list<item: string>
      child 0, item: string
cadd: struct<status: string, records: int64, contig_counts: struct<1: int64, 10: int64, 11: int64, 12: int (... 444 chars omitted)
  child 0, status: string
  child 1, records: int64
  child 2, contig_counts: struct<1: int64, 10: int64, 11: int64, 12: int64, 13: int64, 14: int64, 15: int64, 16: int64, 17: in (... 159 chars omitted)
      child 0, 1: int64
      child 1, 10: int64
      child 2, 11: int64
      child 3, 12: int64
      child 4, 13: int64
      child 5, 14: int64
      child 6, 15: int64
      child 7, 16: int64
      child 8, 17: int64
      child 9, 18: int64
      child 10, 19: int64
      child 11, 2: int64
      child 12, 20: int64
      child 13, 21: int64
      child 14, 22: int64
      child 15, 3: int64
      child 16, 4: int64
      child 17, 5: int64
      child 18, 6: int64
      child 19, 7: int64
      child 20, 8: int64
      child 21, 9: int64
      child 22, X: int64
      child 23, Y: int64
  child 3, runtime_key_uniqueness: string
  child 4, sampled_rows: int64
  child 5, source_comparisons: int64
  child 6, payload_bytes: int64
  child 7, preparation: struct<name: string, size_bytes: int64, sha256: string>
      child 0, name: string
      child 1, size_bytes: int64
      child 2, sha256: string
  child 8, preparer_sha256: string
  child 9, auditor_preparer_sha256: string
to
{'alphamissense': {'status': Value('string'), 'records': Value('int64'), 'contig_counts': {'1': Value('int64'), '10': Value('int64'), '11': Value('int64'), '12': Value('int64'), '13': Value('int64'), '14': Value('int64'), '15': Value('int64'), '16': Value('int64'), '17': Value('int64'), '18': Value('int64'), '19': Value('int64'), '2': Value('int64'), '20': Value('int64'), '21': Value('int64'), '22': Value('int64'), '3': Value('int64'), '4': Value('int64'), '5': Value('int64'), '6': Value('int64'), '7': Value('int64'), '8': Value('int64'), '9': Value('int64'), 'X': Value('int64'), 'Y': Value('int64')}, 'runtime_key_uniqueness': Value('string'), 'sampled_rows': Value('int64'), 'source_comparisons': Value('int64'), 'payload_bytes': Value('int64'), 'preparation': {'name': Value('string'), 'size_bytes': Value('int64'), 'sha256': Value('string')}, 'preparer_sha256': Value('string'), 'auditor_preparer_sha256': Value('string'), 'version_resolution_audit': {'status': Value('string'), 'baseline_rows': Value('int64'), 'verified_output_rows': Value('int64'), 'mane_version_conflicts_resolved': Value('int64'), 'resolved_transcripts': {'ENST00000602326.6': Value('int64'), 'ENST00000371077.10': Value('int64'), 'ENST00000367912.7': Value('int64'), 'ENST00000414423.9': Value('int64'), 'ENST00000616763.6': Value('int64'), 'ENST00000448723.2': Value('int64'), 'ENST00000452863.10': Value('int64'), 'ENST00000550587.6': Value('int64'), 'ENST00000354772.10': Value('int64'), 'ENST00000614646.5': Valu
...
('int64'), '6': Value('int64'), '7': Value('int64'), '8': Value('int64'), '9': Value('int64'), 'X': Value('int64'), 'Y': Value('int64')}, 'runtime_key_uniqueness': Value('string'), 'sampled_rows': Value('int64'), 'source_comparisons': Value('int64'), 'payload_bytes': Value('int64'), 'preparation': {'name': Value('string'), 'size_bytes': Value('int64'), 'sha256': Value('string')}, 'preparer_sha256': Value('string'), 'auditor_preparer_sha256': Value('string')}, 'spliceai': {'status': Value('string'), 'records': Value('int64'), 'contig_counts': {'1': Value('int64'), '10': Value('int64'), '11': Value('int64'), '12': Value('int64'), '13': Value('int64'), '14': Value('int64'), '15': Value('int64'), '16': Value('int64'), '17': Value('int64'), '18': Value('int64'), '19': Value('int64'), '2': Value('int64'), '20': Value('int64'), '21': Value('int64'), '22': Value('int64'), '3': Value('int64'), '4': Value('int64'), '5': Value('int64'), '6': Value('int64'), '7': Value('int64'), '8': Value('int64'), '9': Value('int64'), 'X': Value('int64'), 'Y': Value('int64')}, 'runtime_key_uniqueness': Value('string'), 'sampled_rows': Value('int64'), 'source_comparisons': Value('int64'), 'payload_bytes': Value('int64'), 'preparation': {'name': Value('string'), 'size_bytes': Value('int64'), 'sha256': Value('string')}, 'preparer_sha256': Value('string'), 'auditor_preparer_sha256': Value('string')}, 'installation': {'status': Value('string'), 'transport': Value('string'), 'checks': List(Value('string'))}}
because column names don't match
Traceback:    Traceback (most recent call last):
                File "/src/services/worker/src/worker/utils.py", line 147, in get_rows_or_raise
                  return get_rows(
                      dataset=dataset,
                  ...<4 lines>...
                      column_names=column_names,
                  )
                File "/src/libs/libcommon/src/libcommon/utils.py", line 272, in decorator
                  return func(*args, **kwargs)
                File "/src/services/worker/src/worker/utils.py", line 127, in get_rows
                  rows_plus_one = list(itertools.islice(safe_iter(ds, dataset=dataset), rows_max_number + 1))
                File "/src/services/worker/src/worker/utils.py", line 483, in safe_iter
                  yield from ds.decode(False) if ds.features else ds
                File "/usr/local/lib/python3.14/site-packages/datasets/iterable_dataset.py", line 2951, in __iter__
                  for key, example in ex_iterable:
                                      ^^^^^^^^^^^
                File "/usr/local/lib/python3.14/site-packages/datasets/iterable_dataset.py", line 2461, in __iter__
                  for key, pa_table in self._iter_arrow():
                                       ~~~~~~~~~~~~~~~~^^
                File "/usr/local/lib/python3.14/site-packages/datasets/iterable_dataset.py", line 2486, in _iter_arrow
                  for key, pa_table in self.ex_iterable._iter_arrow():
                                       ~~~~~~~~~~~~~~~~~~~~~~~~~~~~^^
                File "/usr/local/lib/python3.14/site-packages/datasets/iterable_dataset.py", line 547, in _iter_arrow
                  for key, pa_table in iterator:
                                       ^^^^^^^^
                File "/usr/local/lib/python3.14/site-packages/datasets/iterable_dataset.py", line 430, in _iter_arrow
                  for key, pa_table in self.generate_tables_fn(**gen_kwags):
                                       ~~~~~~~~~~~~~~~~~~~~~~~^^^^^^^^^^^^^
                File "/usr/local/lib/python3.14/site-packages/datasets/packaged_modules/json/json.py", line 343, in _generate_tables
                  self._cast_table(pa_table, json_field_paths=json_field_paths),
                  ~~~~~~~~~~~~~~~~^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^
                File "/usr/local/lib/python3.14/site-packages/datasets/packaged_modules/json/json.py", line 132, in _cast_table
                  pa_table = table_cast(pa_table, self.info.features.arrow_schema)
                File "/usr/local/lib/python3.14/site-packages/datasets/table.py", line 2378, in table_cast
                  return cast_table_to_schema(table, schema)
                File "/usr/local/lib/python3.14/site-packages/datasets/table.py", line 2306, in cast_table_to_schema
                  raise CastError(
                  ...<3 lines>...
                  )
              datasets.table.CastError: Couldn't cast
              status: string
              counts: struct<records: int64, cadd_exact: int64, alphamissense_exact: int64, spliceai_exact: int64, splicea (... 32 chars omitted)
                child 0, records: int64
                child 1, cadd_exact: int64
                child 2, alphamissense_exact: int64
                child 3, spliceai_exact: int64
                child 4, spliceai_missing_symbol_rescued: int64
              engine_image_id: string
              alphamissense_version_collision_regressions: list<item: string>
                child 0, item: string
              indexed_plugin: struct<name: string, size_bytes: int64, sha256: string>
                child 0, name: string
                child 1, size_bytes: int64
                child 2, sha256: string
              baked_plugins: struct<IndexedScores.pm: struct<name: string, size_bytes: int64, sha256: string>, SpliceAIStarter.pm (... 147 chars omitted)
                child 0, IndexedScores.pm: struct<name: string, size_bytes: int64, sha256: string>
                    child 0, name: string
                    child 1, size_bytes: int64
                    child 2, sha256: string
                child 1, SpliceAIStarter.pm: struct<name: string, size_bytes: int64, sha256: string>
                    child 0, name: string
                    child 1, size_bytes: int64
                    child 2, sha256: string
                child 2, SpliceAI-MANE1.5-gene-map.json: struct<name: string, size_bytes: int64, sha256: string>
                    child 0, name: string
                    child 1, size_bytes: int64
                    child 2, sha256: string
              input: struct<name: string, size_bytes: int64, sha256: string>
                child 0, name: string
                child 1, size_bytes: int64
                child 2, sha256: string
              output: struct<name: string, size_bytes: int64, sha256: string>
                child 0, name: string
              
              ...
              ing, transport: string, checks: list<item: string>>
                child 0, status: string
                child 1, transport: string
                child 2, checks: list<item: string>
                    child 0, item: string
              cadd: struct<status: string, records: int64, contig_counts: struct<1: int64, 10: int64, 11: int64, 12: int (... 444 chars omitted)
                child 0, status: string
                child 1, records: int64
                child 2, contig_counts: struct<1: int64, 10: int64, 11: int64, 12: int64, 13: int64, 14: int64, 15: int64, 16: int64, 17: in (... 159 chars omitted)
                    child 0, 1: int64
                    child 1, 10: int64
                    child 2, 11: int64
                    child 3, 12: int64
                    child 4, 13: int64
                    child 5, 14: int64
                    child 6, 15: int64
                    child 7, 16: int64
                    child 8, 17: int64
                    child 9, 18: int64
                    child 10, 19: int64
                    child 11, 2: int64
                    child 12, 20: int64
                    child 13, 21: int64
                    child 14, 22: int64
                    child 15, 3: int64
                    child 16, 4: int64
                    child 17, 5: int64
                    child 18, 6: int64
                    child 19, 7: int64
                    child 20, 8: int64
                    child 21, 9: int64
                    child 22, X: int64
                    child 23, Y: int64
                child 3, runtime_key_uniqueness: string
                child 4, sampled_rows: int64
                child 5, source_comparisons: int64
                child 6, payload_bytes: int64
                child 7, preparation: struct<name: string, size_bytes: int64, sha256: string>
                    child 0, name: string
                    child 1, size_bytes: int64
                    child 2, sha256: string
                child 8, preparer_sha256: string
                child 9, auditor_preparer_sha256: string
              to
              {'alphamissense': {'status': Value('string'), 'records': Value('int64'), 'contig_counts': {'1': Value('int64'), '10': Value('int64'), '11': Value('int64'), '12': Value('int64'), '13': Value('int64'), '14': Value('int64'), '15': Value('int64'), '16': Value('int64'), '17': Value('int64'), '18': Value('int64'), '19': Value('int64'), '2': Value('int64'), '20': Value('int64'), '21': Value('int64'), '22': Value('int64'), '3': Value('int64'), '4': Value('int64'), '5': Value('int64'), '6': Value('int64'), '7': Value('int64'), '8': Value('int64'), '9': Value('int64'), 'X': Value('int64'), 'Y': Value('int64')}, 'runtime_key_uniqueness': Value('string'), 'sampled_rows': Value('int64'), 'source_comparisons': Value('int64'), 'payload_bytes': Value('int64'), 'preparation': {'name': Value('string'), 'size_bytes': Value('int64'), 'sha256': Value('string')}, 'preparer_sha256': Value('string'), 'auditor_preparer_sha256': Value('string'), 'version_resolution_audit': {'status': Value('string'), 'baseline_rows': Value('int64'), 'verified_output_rows': Value('int64'), 'mane_version_conflicts_resolved': Value('int64'), 'resolved_transcripts': {'ENST00000602326.6': Value('int64'), 'ENST00000371077.10': Value('int64'), 'ENST00000367912.7': Value('int64'), 'ENST00000414423.9': Value('int64'), 'ENST00000616763.6': Value('int64'), 'ENST00000448723.2': Value('int64'), 'ENST00000452863.10': Value('int64'), 'ENST00000550587.6': Value('int64'), 'ENST00000354772.10': Value('int64'), 'ENST00000614646.5': Valu
              ...
              ('int64'), '6': Value('int64'), '7': Value('int64'), '8': Value('int64'), '9': Value('int64'), 'X': Value('int64'), 'Y': Value('int64')}, 'runtime_key_uniqueness': Value('string'), 'sampled_rows': Value('int64'), 'source_comparisons': Value('int64'), 'payload_bytes': Value('int64'), 'preparation': {'name': Value('string'), 'size_bytes': Value('int64'), 'sha256': Value('string')}, 'preparer_sha256': Value('string'), 'auditor_preparer_sha256': Value('string')}, 'spliceai': {'status': Value('string'), 'records': Value('int64'), 'contig_counts': {'1': Value('int64'), '10': Value('int64'), '11': Value('int64'), '12': Value('int64'), '13': Value('int64'), '14': Value('int64'), '15': Value('int64'), '16': Value('int64'), '17': Value('int64'), '18': Value('int64'), '19': Value('int64'), '2': Value('int64'), '20': Value('int64'), '21': Value('int64'), '22': Value('int64'), '3': Value('int64'), '4': Value('int64'), '5': Value('int64'), '6': Value('int64'), '7': Value('int64'), '8': Value('int64'), '9': Value('int64'), 'X': Value('int64'), 'Y': Value('int64')}, 'runtime_key_uniqueness': Value('string'), 'sampled_rows': Value('int64'), 'source_comparisons': Value('int64'), 'payload_bytes': Value('int64'), 'preparation': {'name': Value('string'), 'size_bytes': Value('int64'), 'sha256': Value('string')}, 'preparer_sha256': Value('string'), 'auditor_preparer_sha256': Value('string')}, 'installation': {'status': Value('string'), 'transport': Value('string'), 'checks': List(Value('string'))}}
              because column names don't match

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GUIDE-IEI compact essential annotations

Release 2026-10-05-v3. Prepared public score subsets for one-click GUIDE-IEI setup, downloaded alongside (not inside) the VEP reference bundle. Application installers do not embed these data. No patient data or model weights are included.

AlphaMissense correction: the initial 2026-10-04-v1 table had 518,100 duplicate runtime keys across 97 MANE transcripts, which caused the matcher to withhold scores. This release resolves keys using the runtime's stable transcript ID rule. Within the preferred source, an unambiguous exact MANE v1.5 transcript version takes precedence over older versions, recovering 95,924 additional keys across 30 transcripts compared with 2026-10-05-v2. Unresolved conflicts remain withheld; scores are never averaged or chosen by magnitude. Update GUIDE-IEI's pinned essential package and rerun essential setup, then reannotate affected VCFs; existing annotation outputs do not change automatically. CADD and SpliceAI scores are unchanged by this correction. Historical immutable revisions remain available for reproducibility, but the initial AlphaMissense table should not be used for new annotations.

Component Rows Data, index and notices
alphamissense 67,723,760 665.9 MB
cadd 107,765,334 527.0 MB
spliceai 2,193,822 22.9 MB

Coverage and matching

  • AlphaMissense: GRCh38 MANE Select v1.5 transcript selection from the official canonical and isoform tables. Exact allele + stable transcript ID + amino-acid change, with source and MANE versions retained. Canonical predictions take precedence for overlapping keys; ambiguous source keys are withheld. Deduplication uses the same version-stripped transcript key as runtime lookup. Within that source, the exact pinned MANE version wins over other versions; conflicts remaining in the winning tier are withheld, not chosen by score. Predictions are not recomputed. Not every MANE transcript has source scores.
  • CADD 1.7: SNVs in the Ensembl 113 protein-coding CDS + stop-codon union. Original Phred score only. No indels, raw score or intronic padding. Allele-scoped.
  • SpliceAI: MANE Select v1.5 first/last two intronic bases, SNVs only, D=500, masked M=1. Original gene names and all DS/DP scores are retained. Summary and GTF gene names are accepted only when anchored to the exact MANE transcript.

The source-pinned preparation manifests describe modifications, counts and hashes. validation.json records full index counts, biological checks and isolated installation/repair tests; vep-validation.json records real VEP113 score checks. AlphaMissense validation includes a complete normalized-key uniqueness scan and version-collision regressions for CIITA, TAPBP, CFH, DMD, ATRX, HNF1A, COL1A1, MAPT, WT1 and EIF4G3. The last three recover the exact pinned MANE-version score. Every output row is also compared with the original versioned table under this selection rule; all recovered transcript versions are checked against the Ensembl 113 GTF used by the annotation engine. These are not a claim of complete clean-machine or clinical validation.

Licenses

These datasets are not MIT-licensed. GUIDE-IEI's MIT software license does not replace component data terms. Each component includes LICENSE-NOTICES.json with attribution, source notices, modifications, links and license text.

  • AlphaMissense: upstream project currently states CC BY 4.0 for predictions; historical notices from the downloaded tables are retained in the component. Official project.
  • CADD: upstream noncommercial-use terms apply; commercial use requires separate arrangements. Official terms/downloads.
  • SpliceAI source dataset: CC BY-NC 4.0 with retained upstream and third-party notices. Pinned source.

No additional rights or endorsement by the upstream authors are implied. Review the applicable component terms before use.

Use

GUIDE-IEI downloads separately pinned components and verifies their SHA-256 hashes. BGZF tables/VCF and tabix indexes are provided separately for resumable transfers. ClinVar/ClinGen remain separate official-source downloads; VEP references remain in their existing reference mirror.

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