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-535052-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 | 535052 | 517337 | GRCh38 | 2 | 178,740,917 | G | A | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | eff83a56b7f45f9f0e3cbf021b44023e6f4e8430196c7c083e37337f8ef50bd4 | 439b8edcb729aea773bf7f9477bec26eb37d23041f7b19c3dd16edeeb5d1d7dc | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-987732-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 | 987732 | 975708 | GRCh38 | 21 | 33,403,544 | A | G | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ae84c6f32260a8cf78639f1c894a6cfca1e0fe84abf137da4b31fae5e8bf1fb2 | f476e865d07dd261711e8e0e04900145c3a94c97aaf2c79bf981cd80f40e7f3d | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-597824-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 | 597824 | 588885 | GRCh38 | 18 | 51,065,525 | A | G | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ae20876755dd0bf5969ba90ffb2ac10dd7543839f84f4f52ee19c43a72254002 | 4d29ace8158a5f88d1f703660e837e726b17762386ed52b4e519d6f2d1e6b698 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1116595-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 | 1116595 | 1104984 | GRCh38 | 17 | 48,726,859 | G | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 9fc157c73e1b96c17fe451dc0cc727c669a997470f2136e5d83afd59da01fde9 | 9d3b251555bb685d46f49f3009d324173e14d14d9274ee56aa3622c288a39c64 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1093075-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 | 1093075 | 1068901 | GRCh38 | 2 | 199,272,595 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 7758f21201150c329c1f314e171ea5df5f948b161ac6e9e2e8f7f888a86fd3da | 456a821508813d318944f34d417981aaf607553c63d37f635aa21a89212c9325 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-996188-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"
] | 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 | 996188 | 983909 | GRCh38 | 17 | 47,284,512 | T | G | Pathogenic | reviewed by expert panel | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c83a0878284861132b6d5e27173b47abe7e59105bc7d0d151c76b736051ccd9a | a587a9ddc57ab350afddcae681d0040ee075ed330066820ea0af527f9e00957b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-866175-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"
] | 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 | 866175 | 856659 | GRCh38 | 9 | 78,240,092 | T | G | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 4c7a9bbf035d196f85e6aac6aceaa5b73c764ffe18a992ee38f40de47dce8bb5 | 90ad0069ae8134a423a288542e89f8323eb3a5feb001003771d003345c54d1ba | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-706656-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 | 706656 | 691168 | GRCh38 | 2 | 44,338,406 | T | C | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 6ced7b018acc2c9c1c257bd237886377b524c539acdac42b97b837f6a48663f5 | a01353bb4147e952f505d0a3f3f4d09fabcc147b070f587d680787c8ce11c999 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1095317-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 | 1095317 | 1086951 | GRCh38 | X | 85,978,864 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | a1889477fb27d411eedc6d7a16942f89d9c73ba691487ba9fb3ea81177d11236 | 06cfa9dd42e7084e726852e0d55cfd811d63979301d012c5cd560f17dba6db9b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2733948-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 | 2733948 | 2898282 | GRCh38 | 1 | 94,103,026 | G | A | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | a2d1c86ab5cd76b82d068e4076c91a942a3e02e27933f1f16b055030faf6ca55 | cd7eb6465d12c9161d3e1c54b053c54b8168165d370560e9014523d691576dc9 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-184907-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 | 184907 | 184478 | GRCh38 | 17 | 17,213,703 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 10 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 4dc265f83c05fc0479b2dd18504b0923b407a0e527473a825fa91d19110d7d31 | 5e66af4ebf4b43eb0870ff699b9b5ca3d2e1d0a3886074cf8a2e903f0f1cddd5 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1700565-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 | 1700565 | 1692958 | GRCh38 | 17 | 3,483,592 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | a89b047c08a5959823786aacc8a5dc108a9b623c4dd3b1b77674f83dcd3922dc | 5d90fb9e5963811fe0f7fa81dcb05202185c6f0197dd6aeceaaf5f18ee9edfef | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-481402-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 | 481402 | 472614 | GRCh38 | 2 | 214,769,289 | G | C | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | bfe2be4a11d23fb7ef7b6a420ec88a28e74a57a72268009ae763887512b084fd | 9765acf67d7b1595e2c1170af41782a544698d0e3c750a69043d252cd16892c8 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1452587-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 | 1452587 | 1364306 | GRCh38 | 1 | 75,732,889 | G | C | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 02d7ef05c4605cc879a47423c7a966950cda8f335f0d7a0a6b3cf340777febe5 | 1cc4646643f606de83134e5c598b2dacf1dde7359cd4220f5c815b8d528e44b3 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-261595-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 | 261595 | 251864 | GRCh38 | 5 | 177,294,643 | A | G | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ee8b08feb4c9ccc0664dfa67c8fd1662f2693a9a2f95e5e0741a7f6f6af6ab44 | e28aa8a63e436235a4f235b82bb0969112afd21d4a5f22db4693168379343fcc | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2446450-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 | 2446450 | 2421580 | GRCh38 | 15 | 45,368,116 | C | T | Pathogenic | reviewed by expert panel | 1 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 6a909e0ed68899d8f512c3b3ed0a89000adaee2a49cd36456ced354defce7f86 | f7166bcb8fcb10ea43733b9317ebb8df4f4a89fb1864f74af2c9a0933b3a554d | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-12954-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 | 12954 | 27993 | GRCh38 | 1 | 237,634,937 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 93d36465e69cf05f8e2e8715bc683aa3a76cc4c3ead6556d9507de81f2bfb083 | e981e5837938fde8c701573a9e70d17b499d6ccb07deb1bcabd5cd60d6cd3ab0 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-226641-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 | 226641 | 229552 | GRCh38 | 7 | 128,847,812 | T | C | Benign | criteria provided, multiple submitters, no conflicts | 9 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3d11c3d56a4287108974bc285410a400adb199c17d031d934c8ed64d5d78aa2f | 002e74626589cc31001f2344c2bf48de0e0dfc48d4020c4a7fcfd2eb86881f8a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-703593-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 | 703593 | 694734 | GRCh38 | 22 | 37,973,816 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 374180e5dc9748f7e556d658b207ca5f03bed549040396bda61094f723ba4669 | b428ca294d073e743dca63343946024815e5de525f56533aa0187e9238dcafca | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-805326-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 | 805326 | 793709 | GRCh38 | 18 | 12,371,604 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | f28367c3fc975795a6d757699edd266247935ed6e4e5f42936f82fe783dfbf58 | 4088bfdb839e1659b577cd0fd5efb4abe3f9f7f4d05f8bda5741aee6f35803fb | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1910605-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 | 1910605 | 1966078 | GRCh38 | 2 | 199,328,923 | G | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 94a33fea7f883986771dcded1e7c66909d546fb5a9644a5002860b5f22d01cbd | 1ee128a8f0c767ceafb8ed0fdc602a939236f70d3163106caf03db77c6fc6e12 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-217335-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 | 217335 | 213977 | GRCh38 | 1 | 147,908,089 | G | C | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1d8865d51e6bb16e1f166cf534c7af11ae23bb7e667894229fdc771c3f720fd3 | ba2ae5813c684ddc5ebf6a609ca575d05f5c29eca321d718e1fb2937565589e2 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2055946-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 | 2055946 | 2116396 | GRCh38 | 7 | 33,273,906 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 7dfb19a406e50d43833a092d841b88e3fc65e92d7a1c459b5811b2d887cf15a0 | 0cfc482840b7312f1ca5cfa64905f75e54e9eb29a895252fec1dc17e62e316ff | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2757041-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 | 2757041 | 2920812 | GRCh38 | 11 | 116,790,653 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | a8288c11cc2ced4d17a8cf4901275f2d3803b934681d87cffeff8444ce10a5c0 | d4babcd8b5cc8ff88ab5d16cd1e2bf6c775b245c466ee7a42e2f8b9d8f43bcda | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-360963-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 | 360963 | 312007 | GRCh38 | 7 | 94,423,116 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 315b5ebb5dcf01d6307f143eee1b5069d9bf85c9f2e2884845ca78f875c0c37a | ed9ab33f2a8132b8e6055ecce3f50bb483e8d23acbd0a52c0cfda341b2bda33f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-889444-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 | 889444 | 877605 | GRCh38 | 17 | 42,900,800 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 60b1dd41eba4f3a2b04138cbe8afaa14be5e507e2f0ca22243a71a94351f61f1 | 3c5f7a7494f5c03b2e23c4ae108e9bd41922d3a7a43336aa289e331b9cfbcb31 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1331547-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 | 1331547 | 1322268 | GRCh38 | 5 | 88,731,903 | T | C | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 8b0f04aa2f099cfd20907fd01acb213091622784db14afd6c1d6aa2e3d9d6bae | 15a9f8316c35041933e0242a6a33933601b930d1d3ae00277f09f7d3fbc29833 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1755162-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 | 1755162 | 1822251 | GRCh38 | 2 | 178,546,866 | G | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b919f4497472e050671257690c459b4b8ae0c1927b8757a5e70836bfa0585181 | c8b2c13e673200bbd596c8f63ae794ee5263c9455e18e5f41b73e144d7852399 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1332963-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 | 1332963 | 1323693 | GRCh38 | 21 | 43,426,008 | A | G | Benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 355815c094104c2cb9073395debea242380d73bc36066162a3b3a8a71f67ab23 | bb7d02a5decd559d590801eaa8c403b02ce5321ece89a150fae859f7ae23c021 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-318299-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 | 318299 | 342241 | GRCh38 | 16 | 20,350,784 | A | G | Benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | a3df23eaa75652245e2d8b6dc5b7e08d325703df428453b0a7cf11ea17fa6ec9 | 1e6caa2588a9d8bcba1bd1f314a075dd6fca75a1adaf46a80d4cc9bb81f03ee3 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-290490-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 | 290490 | 274727 | GRCh38 | 21 | 45,990,257 | G | C | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | bb27dcb4052db4ef110183da655ac0122f7aca6ab2c4980d40f4aa3f15ed5317 | 05c697d050fdcd15263d2db5fdaea2edc0a5e52865c2aa73eefb631bde0c4b4d | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1790548-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 | 1790548 | 1841449 | GRCh38 | 3 | 52,405,131 | A | G | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ddcc343649dba9bce046872c0446fd1a74fd93793468e60d2a9712b5a39e8fdd | 94d85781410343107f77b98a1711da0bc070ec653eeef4b54c3f31979d95caa7 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-260526-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 | 260526 | 255769 | GRCh38 | 16 | 49,636,848 | G | A | Benign | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 501c49ffceaf9712d67679fe6ce4184345bbf75642eedb0e36ffc565da87ada2 | 10760fbbb474590c170a720c641515be244cf030fca8d03766eabfaa95a723e5 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2498356-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 | 2498356 | 2476333 | GRCh38 | 17 | 47,287,084 | G | A | Pathogenic | reviewed by expert panel | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 41b9eb1859618896bdcbba7730c525f8190b3787ffdc42bc2fc4f8b439ca69f5 | ccf7d06750c80d24d1b6c8a7d1c8d0308cb62fe7ab825d68b1c2ba3587b30c92 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-334483-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 | 334483 | 287997 | GRCh38 | 2 | 219,556,695 | C | G | Benign | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 672b75834debfdade9bd53cd89232b9b3d64c039ef34a93546caa3f5fd0991a5 | 3b90fe1eae4d9c7cf0f1ee409b9dd93861085acd9c4c487fc5181a40d0ee0082 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1100291-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 | 1100291 | 1091737 | GRCh38 | 2 | 73,572,317 | A | G | Likely benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 8760381d33aa2a4971b5ac997afaaed52ea7ca1847a35d7e5f9883ba0f3e665a | d681ccbfb26b7beb6098ffb1028edf88f66428d2bce74ecad0520a0707e7b34a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1270406-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 | 1270406 | 1261545 | GRCh38 | 9 | 215,258 | T | C | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ca2b1cf6e70d670aa83016e55f1ace0cde0fe392e1f129a5b3bb0217814c64ec | 69da5cb74ef01bb1d91bf11c60d8ebed3ef6ef7148c2fb2dee1e44f2ada190bd | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-336570-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 | 336570 | 286802 | GRCh38 | 2 | 51,028,875 | C | T | Benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d9a1c3afbfb8c5da6cf9e13ebed8fffefd7ab2385a2921f7a8e179efc9c380a3 | dd900d9d761be15ac9f545e222f77ba2db2e1b6567e5dc5fa4b9e6d68ddb14fd | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1088510-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 | 1088510 | 1085482 | GRCh38 | 20 | 63,672,567 | A | G | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d1dec449fe20b9e3cb7b4c69caad6789bb574c6580f7fde6cbba77b86b0cf873 | 3ae15301d7b064433610aad6c9c51e6948cdaf1a9d8e189372c6fcdce062a9e5 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1326694-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 | 1326694 | 1317053 | GRCh38 | 4 | 654,649 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1d48b4b81f192fafbb31f0a44b9c3e91950c5b868bc2f47a6b00162849c12a93 | 634487229914b92cac90d8622bb90f9ee88299011bbee05f9b7a9c7817adf26b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-4159244-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 | 4159244 | 4273972 | GRCh38 | 7 | 93,135,249 | G | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 8f0e14bc81407398020d51d78a8def3e7cf926bceb9cba6b1f4247b289537fb4 | a90c1bcfb3e02b9f36920acdacef7dcd7b0228ba51adfdc1fb85a81bb540d39c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2572740-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 | 2572740 | 2737682 | GRCh38 | 8 | 117,830,289 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | eec1c165de0eceef1c998f2489d5663e75f06fc83056ecdeba1f0e2c28c34592 | 1e229de8588ab6c7854929577aff03b07c8a32779d23103ec052aade37118135 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-784184-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 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 A 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 | 784184 | 712934 | GRCh38 | 11 | 6,244,339 | A | T | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 794dcc81e2933f7b21c40236a71a5765297ad1f28a46330b7afe47bbd79d44b4 | f657fc6b19f6e993c0384a0721dff9f5b11fa1217d2d174c6a23f3d18f447cb3 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-3776759-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 | 3776759 | 3892905 | GRCh38 | 17 | 61,801,476 | T | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | cf75232e70e4e2af3dd08e5422a36041e7840a89eee813f30754627f31ba187d | abeb3ec4f062a3dd00af99ebfc8a665add15a2afb371ecfc2a05347c106adad4 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-866760-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 | 866760 | 856346 | GRCh38 | 4 | 47,937,224 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0113c357db4aee97bd88e452e6d0a886a0abbf02ebf3745c06374bc805ce9c1f | 7b877927a0b4c0b330436032740a61352844c25fa083b0b1fa88e978218c370b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-509894-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 | 509894 | 499194 | GRCh38 | 2 | 178,697,155 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ca0f0b43af6e6a57c82323f2ebe1dd51ed9829035266090826ec7f8966f1e53b | 33ed8cbc0ea7fe4daf783c2badda27dba67c8f24d037ae77f2f9ff9a4c155ea4 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2682158-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 | 2682158 | 2843189 | GRCh38 | 6 | 43,597,776 | A | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3f324d7085479208b2d81b4e9132bcf39fe576c9c2a087464c5fe8b684c29a3c | 9d5f1e8e346c03bf48ad1299b9eaf22ec9e403369ebdf1c4a612b6377292603b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1228245-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 | 1228245 | 1218210 | GRCh38 | 3 | 4,652,259 | G | A | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b8e73461d5a8ddd539a229002157d5278936a22dcee163380a217b8dd7e43136 | 2b62569b6cbc7c1320f8a611860f0e5f3b8960cc5538d99cb4558257a45a199f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1282136-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 | 1282136 | 1271991 | GRCh38 | 11 | 128,807,018 | A | G | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | de1f5727d014197c1779fc72507e76d6843f3dd34db194c6d0213872c29093ce | 16d8afa93e39934296b1c2ad4a34dee073a5fb30789fe04e2c27bb1e69735259 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1331450-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 | 1331450 | 1322171 | GRCh38 | 11 | 126,331,482 | C | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 82825e4ca9dd27390cee8c68808a186f35327827deb47fc0fe8d01825a5c1861 | 74489722489762b8317c1823ecb6b60a55499e8f5c512edf87345d6e3be152f1 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-210643-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 | 210643 | 208990 | GRCh38 | X | 18,604,646 | G | A | Benign | reviewed by expert panel | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 674588eded0d650604f25f0955a91ffe6d753da82776eed23e4c0d14b04dc4d1 | 95631150a4f04e08d45a9aa86fc915b572c38ab1140823f0c089031911ee4036 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-917898-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 | 917898 | 906217 | GRCh38 | 5 | 171,891,532 | C | G | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1e27cfcc68ad6e81f79136e8aacd430227ace81e4c0c2f5dc0ac61fccf564dd9 | d98b9729e6ae73232d5e74b3b643d7a7638be159497bbf5243fcd421eed88503 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-633002-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 | 633002 | 621721 | GRCh38 | 2 | 39,056,693 | G | C | Benign | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c5c541a4754d0f7bdfb3aa601c470248d94f735c6955f73f6d4979fde3a45bec | f0970213a1223f11af112baa0f95411d3ef6b0d6f13571b25d9e7085b06d8b74 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-739366-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 | 739366 | 746338 | GRCh38 | 1 | 23,797,851 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 4a45af985095ae410e44bc1242352c6b2cf00bf9a3776951ae24a8a19cbfd752 | 9dcc11fd5de5ba9e1c15ead3554a209a0380c38617cf06d3a7519200cd73618a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2775445-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 | 2775445 | 2936168 | GRCh38 | X | 154,947,724 | G | A | Pathogenic | reviewed by expert panel | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ea85e1273ca7430596a835461a2c36f357f73959d44a1eeece76f98fb8f2f7e8 | 47384c8980e2a3605ab129b91cc7ebd88516903f327a1ed029c6e491b0b5304c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-39056-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 | 39056 | 47659 | GRCh38 | 12 | 101,764,253 | G | C | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 36d26170b89d439337b23ca8a6c7f7ad69cd97f5fe84b4d08770aa7677cead0e | 7e416170a891f9c165b10d9280640543fb145d909056d5062125aabe3c274a8d | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-506546-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 | 506546 | 503576 | GRCh38 | 10 | 119,165,630 | C | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | fd6302094853d65fd006fc3c8c76f339b346a62c3e515c1cb6b3204a8bdeab36 | dd21c628cceac3f5672c6cc13951f3d2b76236541ac776d42d9430b51ef2bfe5 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-777408-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 | 777408 | 705349 | GRCh38 | 19 | 7,911,135 | C | T | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 6c64f72b021c8fc4e7455cabc293ad5761fc56ccd7cac40a414cb854a9812fa2 | 0e3ada916e10397af280612693ea67fbd70e1882bb6aeb04fd3d9f410e906277 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-624305-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 | 624305 | 612776 | GRCh38 | 7 | 143,350,587 | T | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 67a5ee883efb41867227f53e8250178cc846a5aa786e7aec3e93e40cee9fbc0b | 81f82225dbf07b6d302c1889c7772dc1f0181bf640b3a4df05fd25103bb1d26b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1468413-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 | 1468413 | 1362657 | GRCh38 | 2 | 210,642,667 | T | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1c4cb2126a589b361d0c6b115934369ed488ec39f1d9baea220f7ee72167321c | 637c83b6895bd0aff9a6571abda6d99ab98bec8b4fbecd903586f12dbfd4c18f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2726268-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 | 2726268 | 2888904 | GRCh38 | 11 | 44,108,231 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0ced03ff56699ca85f1ec792b1fee3a4c554e6543ba9066184b25d77dd3f9b98 | 1228fa3adef618390135c16c9a1f5f556eaaada09e559a3ca79a7f4f2315c647 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-48500-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 | 48500 | 57662 | GRCh38 | 1 | 216,200,074 | A | C | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 10 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | bb1c5bfcad4f7e14f924e2a1be60541063429a8191e9f101de537ca354a001c7 | 4c9fc2cd1c44ea1ae541b766ff76bf6dc8f7cec7c87eb7f75de3c5b092a3f8ca | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-447917-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 | 447917 | 442363 | GRCh38 | X | 100,408,429 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d104f79667e54449e48080770b0db0ca3cb54b11c399b5f4ebcc7564e3ef6a6b | 0aaec24989ef9ac938e8965103cde90308528d32b4f4d1769187b779907fa2ce | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-803130-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 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 A 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 | 803130 | 791507 | GRCh38 | 15 | 90,763,088 | A | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 68ad22defe8f3adca85aac79fcfa669562a10e2ac2b441105bb7137c8664d721 | 3727e55361aecb353bcd3e3738cb7b4c4ddb623f13bbc7ee99baee17d9811185 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1166219-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 | 1166219 | 1159224 | GRCh38 | 22 | 50,220,951 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e854dc51723ed495d55a121975a1d8d8b6afc3a658204c9790024aabbbe179cd | d75c56f687c629076d4f997f7f66b100adc6eeaa09dff41df51746339ab89b5b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1157255-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 | 1157255 | 1131238 | GRCh38 | 1 | 237,828,377 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 40993ec32cc86be04a6992e23b672d6beb98287208a1b70e667d269df6670728 | c81dbe0d700619b93fadda185bc147e3e00ce1aa4a8538b7783952280f6da568 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-927550-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 | 927550 | 910716 | GRCh38 | 7 | 150,947,850 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 55ee287bcdda0283a05c7083d5711981cd700e4d1b531e061c270e506934749a | d43a8eb6219798d079c26a111430250047e8a713500fb7556f72ceac579a715f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-487692-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 | 487692 | 480779 | GRCh38 | 10 | 93,640,166 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b4ab408a1c50eae498f85d19c368f69fbbe0033e8ba64a36524f32cee79735a6 | b3ce2f1e47dfb2568099e865612c593f118d24b5f24db7df1fe145924d1775b0 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2577290-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 | 2577290 | 2742188 | GRCh38 | 12 | 56,002,541 | A | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 04b915e27bd15f8510164d7f248b5d5956cc357272ab774683c33fcc59bdd371 | 734111d2604cbbda55700b38c5fe0d93abef57a519893c6f3c1237199feb1a40 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1484531-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 | 1484531 | 1478071 | GRCh38 | 1 | 200,569,910 | C | A | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 9301c9aee176a5b619072ce56b6fae87311251a8c2fa638915c04e49a152895f | 9c7d1d038f209f6b14e62ef24574a6cf60924d30d9f9cbb28854472fcdbc1e26 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-157808-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 | 157808 | 167655 | GRCh38 | 1 | 197,122,156 | T | C | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 12 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | aca0c18df3b47afd3276a8c241e23607bee7916ef6fe046d4f6b2acc731c5c35 | 84355697e86e1d8ad0a6f4aa931dd163040021d14c38572819267587c63d4322 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-3223774-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 | 3223774 | 3380797 | GRCh38 | 10 | 119,670,009 | C | A | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 8edbd790e48b4a24cb5a3e42ec6f4136698415065a993e0e70d9d2c0bec192fb | 3309334e6a7a69065105bf96c222a930c3dbbbbea076970e83d34e925489b1a0 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-53222-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 | 53222 | 67890 | GRCh38 | 7 | 117,548,671 | C | T | Pathogenic | reviewed by expert panel | 9 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b6ebc6cb3ad3cf37d42c50fbc010ac559d3372c9053690257918e64649f8a583 | 8f788109f94070786c74b3a36aec3d82b0b4fd62320d1b4cb91adc19ae17e7e0 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1259729-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 | 1259729 | 1249214 | GRCh38 | 10 | 17,104,668 | C | T | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | eac516905dff25e24d5f40fa9ee9ad4cb7187164f56615e87c4ef5a51434f54a | ae5cd8dea14dd14014c75f3b82310886f1b5dad82199d7f7738542591554ee6f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2736204-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 | 2736204 | 2894898 | GRCh38 | 15 | 45,105,775 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 28af80c7150132fc69e6877fa280ba5317d52f251cb3ff48708d081ac03dd840 | 0577c43db626d89b72d004d67f398f1e5064a389c87beb187d972123dc64ee16 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2583965-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"
] | 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 | 2583965 | 2751534 | GRCh38 | 5 | 112,838,687 | T | G | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 8604c285a8021ffc8b932981185e75dd7d44302fc3fbe340d686519a2cd77aa4 | ad9fe6363d3c8f38b87ee308dad89a326103c635ddda0ca826189d4b7d356cd9 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-52984-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 | 52984 | 67652 | GRCh38 | 11 | 2,662,080 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 7 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 2321366835e3052ff0c0dfd5c53f629b64e290fb6876f0b5d611b729b9dd7aa7 | 6e8d3fd45caf0b32f630f1a35774acf9aec96494bbeb2428b7e751c1cf6b5f5c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-260998-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 | 260998 | 256471 | GRCh38 | 17 | 7,703,321 | A | G | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | eb4a7da5e68cf9547104d72d201d7f8ae95295cbb4ca816234f3675968052d67 | 136baf78bb1543fb2fb15602c4165fa0a43843c44695d98187c8cde9374af810 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-138440-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 | 138440 | 142143 | GRCh38 | 2 | 240,025,278 | C | T | Benign | criteria provided, multiple submitters, no conflicts | 7 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 5d71742ee1eed49b99a4c8dcbce6735ffa38e251a30b0505567d3338866ef160 | 7dde6b5b0b59d280b6535d2e30cbf45c0014f13e14aec9dffa5e82c795235683 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1805886-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 | 1805886 | 1862896 | GRCh38 | 1 | 15,909,361 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0455be174b637ad8facb10178b98fc297e1fb1927c31c6f7b5d0200931e38d91 | c3e8c2d755bdb4e5aba0cf61753853b842cf1da8820e0d9ff7db4c1b6c3e6a7a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-196042-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 | 196042 | 193203 | GRCh38 | 4 | 78,379,839 | G | A | Benign | criteria provided, multiple submitters, no conflicts | 9 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 27a0675b835a2eeba7b47b85ffd672996737da715c0f2889a1be2dc605070164 | 8c9c9ee07f1f7392adcb5ad0a9865ce6757c05ad1abf4afb9dba11dd03b149c2 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-217161-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 | 217161 | 213790 | GRCh38 | 1 | 12,002,069 | A | G | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 9 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 249ae3f97915532dc3df44355b8e474f306259aecc268b1a74758bd51980ee33 | 01efcc7f53e3c6a6435819189fbc0851e0fc5f45317965f2908446bddead4644 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-919148-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 | 919148 | 916388 | GRCh38 | 11 | 2,847,757 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 39fef6672f0701d74b9f6c2b8693092fcdf803b4c4f0f93f6567ff8d3bdcecc7 | 1254a83535cca27d82283bae15b097d034d1663c1f6c8ed92e8c701b726d8f44 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-556171-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 | 556171 | 547912 | GRCh38 | 16 | 89,770,179 | A | G | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 01af3dcc1674588b868e61be43a1d43acf856097d89dc173ea03c919fb2d6bd6 | 9282edcbff9ce10d891419055bfb98f83d1300e93a57e0913dc74ee978346c0f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2019337-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"
] | 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 | 2019337 | 2065709 | GRCh38 | 9 | 127,612,405 | T | G | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b6eced1db594c2615a7503542aaca7793b75a85f3789c40e73c36956d724a28b | 279fe081974b8e971077d06d8e0d08e1dcf2233a5c04344eb6458cdf2231c4b4 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-698515-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 | 698515 | 690073 | GRCh38 | 14 | 102,497,729 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 20fd0853f7b197662f0993f11156a7d645064d9ae4c4c0197ad85feab78f7eee | df9fca0c3d6a1ea59c7be4a4890de67eb953926d9bebb1e2e05dcbe560d3b699 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-519892-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 | 519892 | 510916 | GRCh38 | X | 154,360,570 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 594e15cb079954b5e4c746ab6dda373c518659ac96e3b8d82b0ab93cfc18293e | 89431c18de62be9b755e7b0aab01004a04bd5861efaf3a8e7cba4ea1a72df915 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1791052-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 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 A 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 | 1791052 | 1851413 | GRCh38 | 1 | 236,718,890 | A | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 35620a40fe02ea663f8039873a73e63d8f27f0ec8c1a47431af55d52b6caaf91 | d352138e09ac8b32022eea8aad092a9c19e80373e621553829af0f24881d70bc | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-666533-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 | 666533 | 654077 | GRCh38 | 11 | 108,147,295 | C | G | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 6d9eb709b7c4d0d6250c4baa39abeb9d7c20c03285f7d39ea331ade9257169c9 | 459b095b53052aef55f95c9a262e76c2a8d7538517167cf590985ac11114f75e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1117108-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 | 1117108 | 1095905 | GRCh38 | 7 | 116,795,959 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 93b2407e9266c2afeb9d3537138391d1ce9d0f9ac1bf8e59bbe1bf9bf55fe21f | 645c7f567367c6af3a0a4c58553ea651ee4a6bd390ffeb69e2e6af63630c4dab | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-457626-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 | 457626 | 466532 | GRCh38 | 17 | 31,230,872 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 8c95153a2d0473c981fc453fc960c9af66b06ef3b08703b9842928c95b989a46 | f023b998fdca629e83d64b3b1ed90e38aac606aa864692f9576d5e8b3003b166 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-352077-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 | 352077 | 296354 | GRCh38 | 5 | 149,985,279 | C | G | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e65da0e06e968990f6a3b357f10ded987b1fad949831a59c957e82231f9c5c36 | fba5b539a3d39f9455505d2c905481d3e85f94637529d4683a3e043bfa735246 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-159930-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 | 159930 | 167989 | GRCh38 | 1 | 42,929,613 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 45a6b9ec26240278ac421e03374d659e50411beb0cb28979070764574caeccd8 | e57bf13625487a573f565997769a76e151cb193733312ce2680f9f9378264edc | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-195437-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 | 195437 | 192598 | GRCh38 | 4 | 109,851,911 | G | A | Benign | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 8c926ecd2595bd46d2f77860ac59175532ed6aafe87a37c9886a68e131fcae02 | 8fe9af898362aff76b171c2e869ed9d2d1836c7f53ff6974ef0637798253b354 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-3600626-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 | 3600626 | 3733240 | GRCh38 | X | 154,987,236 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e0d63e98891679af442c1f05f0c9fd262b62572c0ebc9e45540f4b5dbc548fbf | e9205998d0e83a8ecfbfcca3cbeb8b54d6f5dfc51617667e8f963cf0f0103821 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1278544-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 | 1278544 | 1267125 | GRCh38 | 12 | 124,341,916 | C | T | Benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b6e32b10d388d49e1398f5cd7368b091a919b791e400eb9f2b98843bc6a67c11 | 191fc65c0e95cdedb9ca7f3a3fd7e2e80f37b5e2f59bbe3a358f597c60f1b7cb | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-984188-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 | 984188 | 971715 | GRCh38 | 2 | 210,606,889 | G | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c7470010c182d057992b181bb9342caedf918c6fdd3d320c84c6a9d52006f967 | bf6d19e7c2f439f47195957c4f164399faf2417afebe091e10a514e05773c208 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-48433-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 | 48433 | 57595 | GRCh38 | 1 | 215,650,648 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 8 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 6afabc2e62df53f4d1ebda93c1d51aa554bf86f237c5eafcbddf93be8c19625b | ad69f6904eb54622f51727439ea1e66b4b89c9388831d5413ac179fbabdd162d | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-416675-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 | 416675 | 396841 | GRCh38 | 9 | 132,928,822 | G | C | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 7 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 92cbee3970d55a7dee81f5977167dccddb151878464f3add3fae492c25a4312d | 5b1209532e6264a7d9770798527ac5f919c6420087b774cb7f1ac57585aa2fc2 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2680494-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 | 2680494 | 2838898 | GRCh38 | 10 | 71,777,697 | C | G | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | de2b685e40acc187cfed6950b75a04fd43ff65145d8804e011046542dda827fc | effe6474eaaa9cd7953cf551bff436d4af0a622a69d82a8c4214f9e51f90e011 | 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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