id stringlengths 43 56 | task stringclasses 3
values | question stringlengths 8.53k 16.6k | prompt_suffix stringclasses 3
values | prompt stringlengths 8.65k 16.6k | options listlengths 2 6 | answer_index int64 0 5 | answer_text stringclasses 10
values | gold_answer_json stringclasses 10
values | messages listlengths 2 2 | source stringclasses 1
value | variation_id stringlengths 3 7 | allele_id stringlengths 5 7 | assembly stringclasses 1
value | chrom stringclasses 23
values | pos int64 131k 247M | ref stringclasses 4
values | alt stringclasses 4
values | label_raw stringclasses 6
values | review_status stringclasses 3
values | n_submitters int64 1 54 | origin stringclasses 1
value | variant_type stringclasses 1
value | window_bp int64 8.19k 8.19k | variant_index_0based int64 8.19k 8.19k | variant_position_1based int64 8.19k 8.19k | variant_window_placement stringclasses 1
value | ref_seq_sha256 stringlengths 64 64 | var_seq_sha256 stringlengths 64 64 | ref_is_a stringclasses 3
values | excluded_from_benchmark_eval bool 1
class | benchmark_exclusion_status stringclasses 1
value | benchmark_exclusion_manifest stringclasses 1
value | label_binary stringclasses 2
values |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
clinvar-90006-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 90006 | 95480 | GRCh38 | 3 | 37,048,952 | T | C | Likely pathogenic | reviewed by expert panel | 8 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 9d7e85b302c3d87bf904f2e4df7efea0b2e2cf8331924861f05c66273174bd2f | 44c60bd8f0c0415b0128f92dc975b03794afbb32273049616dd3a915b20e4a62 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1016214-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1016214 | 1002479 | GRCh38 | 1 | 215,674,446 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c443ba573ca8018e8006e9eb67fcf6453363a5bd00dcd6a265480f996727eac2 | b181bd07555fc5b7a5ab8ced4ede68c59d896ed0731f89679898c2f05acf8d03 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-997172-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 997172 | 984944 | GRCh38 | 16 | 2,103,587 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3e4f235a069061e0a52e2d8a5a4a1b00a387ddb5248bd9c865ab93f538ff2855 | e7a0f09125f648c06a49d8a4bceb84ed58f1b709c56384ade52eae0781ede916 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-384314-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 384314 | 364715 | GRCh38 | 1 | 201,052,543 | C | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 28b15cfdbe00bc7bb2166756e1a37dc1e6c70f5a36310cdf4643a0612d8e4dde | beffcad5619d654f106ac7465f896bc2305611c4a6d8b50d4bf97eb90ecec8de | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-969396-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 969396 | 954378 | GRCh38 | 6 | 135,455,775 | G | T | Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 39712caf761680cf589975388253d8477a56189b037b4f2586c6fc178f192cb2 | 91177bdccf19382eb31e1681de5834ec3d297a4b92a5794c84fd9efef5f7d969 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-373991-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 373991 | 360956 | GRCh38 | 14 | 102,005,114 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 76db5bdcebed00329cd0175757d04d8304cd0b9c2a9494f10f21ab91b0f26466 | 43b2ba98ca96ed0e3f1a87ac1759e2460b725eabdaa42d2e7cdfce75d79bec58 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-530155-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 530155 | 529905 | GRCh38 | 16 | 23,635,098 | G | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 4f14239674882795b36c61c035ea77087ef74375a867b55e7972fbdcfc57e144 | ed10b63facb786c8429806a65041b255116459d0ae2a9bb907407c6684b05334 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1549903-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1549903 | 1538857 | GRCh38 | 2 | 8,802,913 | T | A | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ffdfffa325f84834ea0eb68acc1aeaa36bbd7c284b3459bbfb35194a14c73d3b | 136bbb23053d3bc4756affe940d21d3980f86563a8fb22207e66d1fa740424ed | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-11918-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 11918 | 26957 | GRCh38 | 4 | 1,003,108 | G | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ce3bf9bbb40df33956be2b64330d34c9c0c34c928bfc5cd9f21ca695bad9864f | fb2c076c0f5402144e82309fe87f2fbb3e160d93f88178918b14ba8014b14efc | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-590753-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 590753 | 581395 | GRCh38 | 7 | 92,234,924 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 328957288dcbd116d9cb7cce029cd770e14c7529be8c7761bf7bb6969d437ca9 | 13ee8fa828b3bfa363d638e1dbd3ab657754780e5ea596baa961be0f7f25469c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2052687-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 2052687 | 2111865 | GRCh38 | 19 | 38,548,220 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 659e48e341fb7574cb077fdc560c257947585f05a7e885ff5672a6bf7b647dd4 | 1db5380669c97bc85c6867b1f4788ed8ab185ce01d6dc075988f68af4f2d3392 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-255584-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 255584 | 249695 | GRCh38 | 1 | 209,650,009 | G | A | Benign | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 353551ea214622c38280cb17d47f8d1c7d4b02c64f2bfc62c2369fd825badc6d | 812498bb8759ba9cc444e5b94d033fbc7db2e75771595b352252059ec5ea6097 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-230107-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 230107 | 232413 | GRCh38 | 2 | 214,781,165 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 9652af2dc79048289d2fd3fa49ab45409b3ff1c06f7268a86ccf98480bb339a0 | 29f5914b4272f51e9e9a4c19240b807063c646779f510ce0f569a7ab68e5d648 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-379407-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 379407 | 375205 | GRCh38 | 16 | 51,137,316 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e99b1d72352bbbcfa2a43ddb3c6a2f2c9b447f2a9fc9219418684a9f020bff87 | fe645fe34acb2edff2084b1fb470f5b5036be80304d7cd1671bf0027c0355d70 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2005154-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 2005154 | 2055782 | GRCh38 | 14 | 23,424,910 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 2d8ed4631941ce699a51dfe4425151f8a6355f7c674c8a7b534e16831ad25873 | 9c11bc81cf55f1b0ed251572893bb01ffce6b9f7d55f7f705621e79e336f7118 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1143663-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1143663 | 1147234 | GRCh38 | 17 | 44,262,640 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 59f75c5eac02b5fc3339acb12a3d6cc86eb1af42274616e5ed429a625108c8cc | dba620cd672594e461093d7ba79367c0b52e73875c500795f58620a01a9660fd | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-458335-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 458335 | 458237 | GRCh38 | 9 | 127,819,622 | C | G | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | bf50d60ea5f4bbcd94abf5330337b17d174fdfe1e8b8f93e7d3edf45f543a93b | d9b54de8a6492f6d25639180822d6695a608c9ba7e04f1a7f21bdb2a65107ee4 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-236109-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 236109 | 237671 | GRCh38 | 1 | 94,031,054 | C | A | Pathogenic | reviewed by expert panel | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e64ba7f99717545e161e7082a6f53e929f0e7c6ed63e4499ba11ce8fd916bfad | 437ebacad6660b8cb6629d42e5140d3959761fa2853482602298add832af1029 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2676147-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 2676147 | 2834568 | GRCh38 | 5 | 119,502,045 | T | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 9ae9f039079e645b60fe9686b965dcc3188988c529c6bdbfb0f8522d3f80d164 | afbfaf0edf4bd40ccac352a6ce8d8905ef308dc086f8b5beb29cab9d48c976fd | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-630876-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 630876 | 619688 | GRCh38 | 19 | 11,128,002 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e3b6eab0714f0fcd12f8b32000ecf32e8aeb5ed7cbaa28e5e992c78dea8329f0 | 91b327b7598dd6b3c1aaf1b047dab179bb856601b9dc5161593dfa39491f6a63 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-974638-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 974638 | 962940 | GRCh38 | 17 | 8,012,501 | C | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | afc281bebc30bb82595b28538772e326ba75e289e24f0324bc93c64d0bca8848 | 63970b54dfb65b7f8a00b34daacd41e008bb7065ca6df294e301b0961f51915b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-16044-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 16044 | 31083 | GRCh38 | 3 | 186,620,593 | G | C | Benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 8821a78164ac6670881ae1b946fe0de808cbed7f90fcee320a18324ed2eaa31c | 46a723acf0245d0020996cebe3e8ca51ae4ea145a9b39ddb5dee8ea3386d26b3 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-332599-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 332599 | 283878 | GRCh38 | 2 | 177,543,169 | T | C | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1f2a62d4c70bf1a8e7960deddc1d5ca92fa001c5a68abdae76ebc801fcb96bef | 4cc4c794d72a3c8ee5e1e670244372451fd346bdd47b9c1f40fabf1caf250e2a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1065689-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1065689 | 1054136 | GRCh38 | X | 38,287,248 | G | C | Pathogenic | reviewed by expert panel | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e5343b7888a653ddedfbd08d3e0759b9b3d0d7ca9768e9d5dfab32de067ecca4 | 7358a9a04ba5b34797500d5c1f4a8eb82da8775b1f124b111d9037029e6da5a6 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1750266-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1750266 | 1807244 | GRCh38 | 11 | 108,310,277 | C | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | dadb0b72fd716ceb2a21a559935fdc3efe433c65c471078cad9167435075637a | a5dc3b95b4b4f3581b2312792a81fb20502b133db08379e002f3b1ebb76329e1 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1707678-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1707678 | 1705978 | GRCh38 | 5 | 132,385,375 | G | C | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 82d3c9291bcf69418151911f440b90c37a0f436d2a3b605f8f06996b81924fab | 9d50e17954d503402b822da5100fda18a701ee2bb9a06ae8fdc90ec633b4e491 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-92941-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 92941 | 98848 | GRCh38 | 6 | 129,250,127 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 14 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b1c1bc22c69947d1d08f04bcf7253108e7dca6c6cc2a5001336b6e724ed479cc | 6f09819cdd3f30cbcb015ceb63bbd280c856775ca008baf6423b5e56334f6512 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-3897603-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 3897603 | 4013461 | GRCh38 | 1 | 26,768,004 | G | A | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | f851e56c16f3067cfdc605ddb44fa24b7ac751bf433dc13670322e091bbee3cc | b6c081ff28a99956021f8b4fabda5c8c3e7dbc41ea80dd5cfd0038f0f945a183 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-177877-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 177877 | 174756 | GRCh38 | 11 | 47,337,533 | C | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 8 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0c21609601c584533dacb2564968df058b67b787a375565a8f6212e5a18b1470 | 2ad14c3a5dfa68c0eb2e7a652b1ebe7fc1e8a07a7db42df9b67c7f379449f6c9 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-483282-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 483282 | 476467 | GRCh38 | 12 | 57,751,022 | C | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 5691426c9a56b1ef753834f4b1479856676a469f9f91d159f205020b960297ab | 7756c219b733df3243a7a51144e041ab2bfd9da501c2e4cc95eee3026466799e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1068342-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1068342 | 1056431 | GRCh38 | 17 | 42,911,144 | C | G | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | db5cbfc98cca70b65a3565172704c6fed1d048ae017a0e3c860964d5187f425d | 0f6c0a2bf3b978cfab60a4af6a9365923ae3c61aa825b16dc0d8278893ea9fad | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-193151-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 193151 | 190316 | GRCh38 | 17 | 81,528,912 | G | A | Benign | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 6d5d1e4d30be9ab83f71f01097d83716cb525b6c3050f5ffe5d959f2c9865965 | 0ebca1f1f569fb2af05e624d1da06d3fb012ed0e5deda3b4f3b147a65f97fee4 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1290506-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1290506 | 1280334 | GRCh38 | 2 | 241,195,602 | A | C | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3566e057337c73c2110590e9312097b099b9efb733a43b00f823a4068c5d53a5 | 996d29abba5d90582a10f0073dfb94e8d73fa4636c9c0a69c390ba40914b56f2 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-922606-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 922606 | 911814 | GRCh38 | 11 | 47,343,112 | G | T | Likely benign | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | cb58d0e873f9a899b9f225d916d40944980a93589b69071698138c57c9180ac2 | cd31ae89407dbfe1575818c60352bef8114f72552e38b247b9362d16bfb16196 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-280767-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 280767 | 264616 | GRCh38 | 12 | 47,978,667 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d070d6c0a83273d1ca1ee4f85d24b2aedf13be748e81585b4da7580e337e839a | 7087575290b9f41ff3120bcc4e138d7eda073d9bbfa857d11ee77462e461c942 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1057080-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1057080 | 1040731 | GRCh38 | 2 | 166,047,628 | A | G | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c21b80411a75a12a0ac6a7708fc071da3eb586e74b0104bfb727512d5eae9b42 | 1c96d564bdd7ed2680724a199d5b2eec27de2b37e9f2248ca73078e9ca34900c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1042201-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1042201 | 1022984 | GRCh38 | 1 | 216,327,601 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | df8224210b8028c7a51f6722f37744676641e81d56dde309ee93ba9576eb9397 | 1088782761a4d68b72fe95241c3ad0876a0f8db43b88222c290f56f509d0965c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-801690-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 801690 | 790259 | GRCh38 | 2 | 47,478,271 | G | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e447a50cc0bf775c465b08ec74f3b68c2302ce44eece6e3fc7976ebf3e5f27d9 | ecb7197b9c4747fd7fd67d60796bac81211292575e8a063616f3568389d2cfe7 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-390034-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 390034 | 378463 | GRCh38 | X | 53,250,402 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | fed9c2a909537beaef1f853960219e99a5be0567246643f474f020d5ede94e8c | 95ae093ff72f3a32ade19eb41f093803ea80f10e29f6c631ac9f5b92fe60e8e7 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-657536-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 657536 | 642391 | GRCh38 | 14 | 45,166,959 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e6035e8ac98cdb84d384b5d1fb6fa9a8e1843bd4bd8781576080d7ff8aee119d | 7bf80a7442f40c449fea7762b8bf5af4240ca6fc9a2e700b89b19d15c23e27f2 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-381801-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 381801 | 376939 | GRCh38 | 18 | 70,029,999 | C | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | cbd0df49ebbde8e950eba23eb61dc35cd96c8ea926505c950c8d0346ff471d1f | e9084062b5232f2c8957a619d54173dae1a70073be8e7df6997adbf8dcdb3364 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1639843-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1639843 | 1571263 | GRCh38 | 1 | 10,352,711 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | f17b57e6fb6452e12df24f57f16fe3e5fa2ab30e9d593d1d1bf39c897e691830 | 1120eabb6fca2661d3ba87f2ac50e8ab142c5b528ea15d280117d016c5561984 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-847569-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 847569 | 846034 | GRCh38 | 17 | 65,537,788 | C | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 6d49f518dc01684e3080f79ecffecc64287e4248f36d7c8f40fe0143b83615f0 | dcf22e5a876550fb83ef869a1e98d72c5b6ae971e9263c065ab86bb6ea55d719 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1739846-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1739846 | 1794292 | GRCh38 | 7 | 6,002,557 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 8987dd3e250a8150cde11e83c9e876b92775d3ca8c86089d5a986cd2aafc2f31 | 53e2711591b3808dc713436422be4cad4b57493e209bb77ae648edf680e774b9 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-233982-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 233982 | 232209 | GRCh38 | 1 | 45,331,187 | T | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 414f92e1ca1acb7a7709f8791e3a736f8e37be07cf5ee58cae9fa54c8dbd85a4 | f10f1255a37fd54a743c9be12e2abe7c93ca25dd1f77b7c0ae02527fba491078 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-638088-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 638088 | 625889 | GRCh38 | 17 | 80,214,673 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | bf7c1120a751d921e69e10b2e25aafb66526f668fd8709b082228cc90adc146d | a8d19de7ab73feb0cbaad0176da243fa90a35a2e10981c9bb14069ed634a9f90 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1170184-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1170184 | 1156845 | GRCh38 | 11 | 76,926,686 | C | G | Benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | cec4f0b1e4f457fccb177424224541dde2a6225534f30486b9ddcf4425c8c4c1 | bd2daaa28322b57de1c4372d31813453328cf72c66bf2d3f3807a86a8750904a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-318306-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 318306 | 340849 | GRCh38 | 16 | 2,055,472 | C | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 11 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 095cf7d6185605ac05cf0b8cfda57ce81b40f5c00e26150067fdd5c53cee3253 | 33128570701d8f29f9f5d00500bcbb6aaf97339fe9ae1015e59eabaea3d08eef | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1277341-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1277341 | 1265921 | GRCh38 | 3 | 149,212,309 | T | A | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | a7e2401f7425499abd2b1e8351131bd10389066582522685af5ef957055c0839 | 95e98547c26d0b3e66a4597e0eafa1c70ace975205c9307570520d72043c5222 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-92901-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 92901 | 98808 | GRCh38 | 3 | 32,997,310 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 7 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 02c0abc998d4744d33b2f8bebc0cf12358c13daec7eab6f54e9d9f04a7ccf8ec | a760d5868aad1025310b9b720e69a3d884985fcd53a43435009c8eb087ef35ef | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-251163-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 251163 | 245501 | GRCh38 | 19 | 11,105,252 | T | C | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ae2cfc65575f7d3e6c83e92d1b27122e7e9c67058839e177c74784813229bb03 | 2d9f1c1283dde46256eed362022e56cd15a9493742b36d35af934d1559e6ab67 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-3341965-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 3341965 | 3501198 | GRCh38 | 6 | 31,666,834 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | bc119be797e139ada0bfbe02ffe5b1d6573dde983cdb7172bd14e160374ac379 | 2927257a3d7c43248bf631e35fb89f7bf27484bdc266cf6cbd5a514057b4f3f9 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-96250-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 96250 | 102144 | GRCh38 | 11 | 64,805,076 | C | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d8fcb3bf7143abf0c3732b46b90028efb7d4e400418c976905d5a0adf136c54d | 3d365dec35a2902bb25b56928b0af3ade447052f18709f108353febcafd470a8 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-658037-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 658037 | 636016 | GRCh38 | 7 | 21,705,497 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0598f8c3e09edac5c609a2d64427a52121d22c16656a2d62bc1d304351cf3687 | 8ac171658818eedbbb97c03e54bd8769729860476074318b2eefc19f212ecb84 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1065605-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1065605 | 1053911 | GRCh38 | 3 | 70,977,645 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 70b7ef8752f585f2ba403cd94a9e7f9aed3cd38f04c6e19cdf12c2e12ef7ca40 | 1084737457e7119f0037eb07280f1d5d6b1433e8d6e03d39d7e604f12527d53b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-38433-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 38433 | 46992 | GRCh38 | 12 | 101,771,097 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 69a72070e28297cbe054f86de2356bccea5139896e42e5161e05d227ae9aa806 | ed00ebffb3742e060639ab670b438462b68d232591845f20dc4efc5580020ce8 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-257743-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 257743 | 250234 | GRCh38 | 2 | 151,592,126 | T | C | Benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 95e3e1a4dc58f10106de966531b6633351a04ee44c9c38b69741e4fd6be47e5b | 89c928ead15d17e5549350191231c89f178c9d43ab4ce4bcb45aa79d0ae5306a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-96590-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 96590 | 102483 | GRCh38 | 6 | 80,168,905 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1ac52aec3445821f9fd83c4db63de3f2b5773b08ab40fb24c40977f32552117c | 6b7dc11a59770b3cf428a08f2dc5fa9abe30835201e5dbd251104ce1555f0e41 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-285974-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 285974 | 270211 | GRCh38 | 10 | 80,276,548 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 33c8cedf45524e1494ab769076ed38e12c3be495ad3532b953299050e488ae42 | 2bf8e29dfbc0ed90d3950637c1ae2299d1b17748fac18c90a59ce5a733a698ec | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-483970-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 483970 | 474777 | GRCh38 | 8 | 89,958,724 | C | G | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | a55d82da31d9aaf7392efa3381946d2646e1dbe327dc13538e5becc53a43d8b9 | 748f93d0faf8b02d1a112008b8627a682b68a33254cc3bac7982e3572bb2e84d | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-254926-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 254926 | 249792 | GRCh38 | 1 | 235,777,232 | C | G | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | a024ce6c2c685eebfb9bfdf75f5f269123c6391c29ce2529bdee48a238c7da76 | 362e7d685b6af1d38171966b223b5bd1b54d358f1a811b843ebdf3926e71f67c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-17032-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 17032 | 32071 | GRCh38 | 13 | 20,189,332 | C | G | Pathogenic | criteria provided, multiple submitters, no conflicts | 17 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 43be35f0104e9c10d7a85bccd5fb03626d8f17fecd857c0dc244e8a5eb933f68 | ce52c7239b28487ef51b8e8a528468a4ca962497eaf45785232fd5797238b70a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-557505-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 557505 | 541640 | GRCh38 | 2 | 151,563,623 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c90b67c38f4694d77dff95827c57846bc177c74c85251332ba0c43321e83a484 | 533e60b7ba53fa4485deaf1a03c37ab95cd6f6cac7bbf6bb8371b67305e00d45 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-775154-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 775154 | 696389 | GRCh38 | 1 | 202,012,105 | T | C | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | bde1481ad93b260aacd53ac70fa3877433ee0e9f9833f3965c49d11b15551d74 | f9a8e1c2eee0411e8eb18749ddc9c8504766019bb42c370feafc48289b257b75 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-53790-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 53790 | 68458 | GRCh38 | 7 | 117,627,815 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 7 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | edcdc2ce851c0ee97a0d28699105325facb86378c4770e6336b24337f9e25b8a | 448e2b9958a7ce835162f4f831bc68a7ba827c3e352a0c59dfc5858f3d33fbed | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-570847-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 570847 | 557588 | GRCh38 | 2 | 162,277,463 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0acd2f177b74a783dca9d30e85099a9e7b215fee03f1c3c860b56f7bb50485d7 | 02ead0fa2a5ca24f4f5c20aed9499940b86a3124b90538aed6355522442f7486 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1788627-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1788627 | 1844687 | GRCh38 | 11 | 108,257,490 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e01c80b7ca93af4418dcc72fcb3a67ea4c1d8a2b0a68fd681d2fe12220d7b64b | d852a0a34bae4e0a966dc85fb17fbb3ec6ba4cb1de671646620f97848d059b81 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-665-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 665 | 15704 | GRCh38 | 2 | 127,421,438 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 9938f5a63bf4842a2fbd5cfd60a63e342b150ae1fd127159064c47cfec56405b | 195bb1ff2f671f1ff10aacb0136a794d60e448c4ce106bbeee080d308de128e3 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-280468-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 280468 | 263961 | GRCh38 | 1 | 151,408,125 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 693b7472d3f55aaf97bd796f5841ce0fa38c5a202e07fc39fb0c8dcf6b6ad6f1 | 87410278f063411ee23739525be527d18560790d32bb8ba422067b05cfea374f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-236416-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 236416 | 238039 | GRCh38 | 8 | 54,625,914 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | bda8a2ba45525ae4c49eca0795ff65b398c5e3e5238ad8846469873ecb0e50bc | f2245426ac15a0edadaaac605777f754d89cc4cb26d3818e20fe6827bfb5f50f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-230345-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 230345 | 236659 | GRCh38 | 22 | 28,711,904 | C | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | f27bea25807f982a60380df67d9ec3af965379639a98a61f98d9d86ac4e29916 | d485c88596ac197fd35bb1233369fa4e5a5ce16b69bc117f8e5ac3e0b431c51e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-44098-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 44098 | 53266 | GRCh38 | 9 | 69,246,769 | G | A | Benign | criteria provided, multiple submitters, no conflicts | 7 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 17e5361ef3d6e349f114ab122174f3081ef95c89059f31a63131fc9f59e1fd55 | ccbbb9a4821bc1b661d8a58e7606170cf8462d9a753096b35218e23a083ab31d | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-3393429-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 3393429 | 3552505 | GRCh38 | 16 | 2,055,520 | G | C | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 013691ed83eef015af7e24b1ca5169fcc7b21af49e8a8bce4f6431533ca6e7e9 | 385cec3f0fdcb40da1de3f6ae3f7bf3ac03e41cd35fac9500c6d118dc4e80c8e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-266475-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 266475 | 261647 | GRCh38 | 17 | 43,076,564 | C | A | Pathogenic | reviewed by expert panel | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 866e4423a6dcb9c49af516390f73340a4853567e135a016b10f161860e6ec9d3 | a1f28ecabc7e0b13fa6d56c31e498638251b449cae9539e48f0191a7a6a687b2 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-259861-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 259861 | 250991 | GRCh38 | 3 | 15,474,287 | T | C | Benign | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1d1f122e719ac3a3792fe7492db84e6c807c3ce47b4f5df254677ef7d16bcd3b | 17e2e73b47067c50fe9927e3874f9fd82b83f05b81ce79ea55d3efb29a675660 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-460294-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 460294 | 468120 | GRCh38 | 17 | 45,989,975 | C | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 68fc320bc0d4a61f62f9d79a76005110e0146c8826806d9c772c32d7f008dc65 | 022820d0cb7662671f10f673111c86bf907c3221a93d247939f6f32675d8b6ed | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-3068529-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 3068529 | 3227856 | GRCh38 | 20 | 44,407,465 | G | A | Likely pathogenic | reviewed by expert panel | 1 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e1981fa9f81e5542ff07d62a9a8a08042c14dce112b7ab05f345ea849523316d | 93ca340051991cc5eea0cc39f155ee3c27b1a0d49a05ab5dcffc6a2ce3af01a0 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1616293-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1616293 | 1526483 | GRCh38 | 19 | 10,996,290 | A | G | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b0f9e4d2273d5e4f4809e9e9ec7e139ac24ecd0bfdc0aa5dec197610691894fb | a8189ca6548807a55aa0cdb34da74174a934291e9628f781f11d78f1f37f2c73 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-444062-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 444062 | 437706 | GRCh38 | 12 | 4,370,732 | C | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 652bddaff94380592aac834c9cec045b594faba3638a791346b3c97ff1649fd5 | af6987f178f41f92e36379db2aba7474e44fef28d8ec1d503591e08228fe51b4 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-294522-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 294522 | 279222 | GRCh38 | 1 | 196,743,496 | G | C | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 9 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 64c49937efa48cfc00b66731008d94888bf27920580a8c0463f2b899535550ef | 0fc810e2b6997818a77bac186f665173e107535cfc2ea84ecf99012c77f037e5 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1222833-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1222833 | 1211942 | GRCh38 | 1 | 97,079,215 | T | C | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0ac26be1802d7cd58b0ec2750ce4d56fea79519632f9f3cfcd13eacb1c23ee6c | 08f0fa139498549b696851b4c3e0349576d0327a6195f5a1cb72437289b5b43b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1066974-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1066974 | 1056308 | GRCh38 | 16 | 30,751,095 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 9335ffc7c48f49a7bc11a320b8b9530fa33b9c0a413743d3ec27e15213165141 | 9bcd8079cd246fa8acde276bdc6afbf0a86f6db427a5ca8380a0b3d0980d800e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-464387-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 464387 | 453575 | GRCh38 | 4 | 82,429,361 | C | T | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 674eb13618d73bb6b5a8cfa970b2c727b877622ba2d53661c5e059af1b4527fc | 0e2a7dd70b7faec80b5f7a4de1a335c8365ed30abfd2c74d23eececa3a1ac606 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-453606-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 453606 | 460713 | GRCh38 | 11 | 108,312,463 | G | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 7 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d7351660c664cc1629568f5e5a51735090531e8fe1ef0a921fea331d7e47ad39 | c28590b2d769d5c80826166761cfa9ef853d2a56a9e73f576781f25844ebb0c2 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1080492-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1080492 | 1078165 | GRCh38 | 11 | 2,884,884 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d6bf5005020925dae07ef19329ef5138fe869476950acb6b45176b46bf6aef1a | 45cbbc582fcdd6c3540010051cfc853266844b17cfc8c4fc657292e634599293 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2019273-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 2019273 | 2065645 | GRCh38 | 2 | 43,947,729 | A | G | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 9f612aaea77eb03c5ce648bb58e69bb63a73245e2af5a73a6df34b69ee4c4ba6 | de64c57bce2ecd32b614edbb0813fe416db9e143520ae44b586713b663312bb1 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-381444-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 381444 | 374154 | GRCh38 | 11 | 62,671,942 | C | T | Benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 09f1b1e8baa5e31dba8ce328d23da25cf62d357eaa454b65c2f5648b01580e41 | 92b9b0b4905771052b65d510516ed651e3b402860a8352c97cdf5d1d1e71ea20 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-186666-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 186666 | 184666 | GRCh38 | 17 | 31,260,441 | C | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 7 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 4ea438097d4cab2491617676d2adf7825f6b890d20ae5188c366222eb0029702 | 3a01a80fb30a1549e5b88e5aa686aebea69a1dae1d448dee2f5471934a952a10 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-514119-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 514119 | 504777 | GRCh38 | 14 | 50,157,049 | A | G | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 571a941df03795edffcc339f4edbe27327f9eb7ef4f4dad73fa7571cde282e37 | bd689a75438e69d619fee56edd8b444808e22661a9e63da179a5ab34e8ee0e83 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1703051-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1703051 | 1695442 | GRCh38 | 2 | 26,477,750 | C | G | Likely pathogenic | reviewed by expert panel | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ff57c61eee587f2c9131ee6d71cfecabe26337b8bedcdf6811bbfb237d70dbfb | 9a545d69c4e5c9666ca65764f20ce308229717abcbfc8637467b0ac8f69734ad | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-202385-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 202385 | 199248 | GRCh38 | 2 | 178,609,489 | G | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3eb25ab231c1f80d5e51ef0a68b779b36d9df21f9fa808e7eaa7bf55180ccfbe | 8726f999c7d432a32bb36f1aa644fcaef4b841fb4ad71241048f03fc016d94c3 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1069191-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1069191 | 1059798 | GRCh38 | 3 | 4,662,081 | G | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d9fc5adae0e30a0273b6e58ad23de8f407c55325d997a9351e657f29a8453aa1 | f84e9b6146eaa747c05feaa5a000738893393ce28f8e8424068e88a30c84e2a5 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-557089-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 557089 | 542133 | GRCh38 | 2 | 227,273,119 | T | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | bdb0e3d57f3a593060e76ab206046a5a43af192fde797612bde08edd5322be93 | 06203c4d52e9da49f9899006139ea224a023ead1b1e2110a859e68ea33e6f9c5 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-674541-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 674541 | 657685 | GRCh38 | 1 | 237,674,701 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 41974a7fff3efcb74aa102479fcb3b72eb4fa0779c519898d60d37965c485478 | 2207a0f51bfa6af786d118b37d4b0aabf8af7d03e4a1f94821d873287d76e7cd | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1237243-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1237243 | 1226367 | GRCh38 | 7 | 122,438,360 | T | G | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 878fd59a242e1542e1656f2dc2cad7d37c000a886d66e558fd2c165f69b54f42 | f7644861c7121425f604a48ac13b724bcd20eb2997f4dcdc322662dac8ace15f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-14331-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 14331 | 29370 | GRCh38 | 18 | 60,371,403 | A | C | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 9e7e15a5e073a63349ed2600cd9cd43a6f3751f10862cc705dfcffbe32a97c3a | b992790a83e697bf214864bd57b418b2f6651e1f19b6ae7864b23e9fa8d20d3c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-720676-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 720676 | 723414 | GRCh38 | 9 | 133,110,386 | T | C | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 5f493bc8ffb210c9db111c4bb70c756c27ac5f3cf3e72ae272d95ba24f6cc876 | 5a2e8718fc6a70bbfe07ec87186d86e3956b0659896bd589cbe5a76483402b71 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-227940-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 227940 | 229431 | GRCh38 | 6 | 2,948,433 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 09ff35c3e140634417a0d451f651a3fdaad7b616d851dd77519b859510d17c64 | acc6442a32f069e1c7e456ab8ed3bbc3dcd624c4e811d6f88ee9ffd3ac9635a8 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1456984-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1456984 | 1477723 | GRCh38 | 12 | 88,194,870 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 9a2c64e9ac17809630846d6d96f4cc29cf3ed307cd56d2e8b398cc617b0baebf | dfb290557e9e4087bb0daa022cd8baaedf9a73f8ad9ba0a2329450f22dcc80ac | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-436458-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 436458 | 429705 | GRCh38 | 15 | 55,205,623 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 9 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b702b5b3f7a7e1f101479a0a1173f0ef190da7b351e0b13770734281c8433f2f | e12f2fc9f6be78f28949ef5eda2d03cebb1a8a19005cd1e1e1affa063daf4abc | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
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