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-551403-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 | 551403 | 541417 | GRCh38 | 1 | 99,892,583 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 88292a9854da32c12fac86d881db7d830991e6284568a176dfcda9478f82012f | 133847d2b40b692fdd29434a81f36c5d68ae117a61abaa9b30fb3c6dd0b22b87 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1175451-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 | 1175451 | 1164867 | GRCh38 | 1 | 27,551,868 | G | C | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 71a62d57c6840958bfd69056d324540a76726789976f1ef00ac5e7b8841dc1eb | 44ea0b77a23435f62141f737306a5f9433c7c48804d5fe011bd393949d73ab01 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-583283-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 | 583283 | 575108 | GRCh38 | 20 | 45,419,293 | A | G | Pathogenic | criteria provided, multiple submitters, no conflicts | 7 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d36dae2c5a906462a1afecfaa2b5dd81edfcdd6141d20b09c0ba3b5c541fe752 | 32753dd3ed4f0be5581cfe9a6e587cfc577312e8d89ef68672b1c41b3198eb77 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-626945-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 | 626945 | 615740 | GRCh38 | 13 | 113,105,787 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1b95f432c2df2ab1694dbfedef13c7d2bf82ca7675a76cacea856026d5c1977b | 5ba4f20f2b6618757586484ba59546b1a85374685a87b143bb40f31d75d00fbd | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1247237-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 | 1247237 | 1235900 | GRCh38 | 9 | 894,409 | A | G | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 403889489a89af4ea3fee94dbb5c51245b5ba31080781aacb5bb8c7e0c084752 | e1275c5466c962625a395c798c70ffe0760db336048a461e90622c40ab738003 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-143569-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 | 143569 | 153301 | GRCh38 | X | 154,031,406 | T | C | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3469e6e4f412cddb2d4ed611efae01af9a616b04f49da85cfbfb7300c141fc2f | a6ad92a61899ee0d051f43ded63459ec4f68a22176dc6d63810d9660416e10a5 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2166389-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 | 2166389 | 1899001 | GRCh38 | 9 | 137,955,779 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 88134ed3e067a46768e3dd9ac3180fbb512a93c470da8d47408ea1dcc59511a9 | 169313d53d3f16b4e4d2cdfcff5973dd52ae8818168ab11cf37330edcd4529a1 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1096885-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 | 1096885 | 1083207 | GRCh38 | 17 | 48,728,309 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | f550dbfb96595aa28f568e5e06d821565284d98c7093b9e0ce93f50383b0ea7e | ccfb0d2828ed6375b6c435eb752c3742948a17bbad452346a01becdb6f76894b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2645827-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 | 2645827 | 2810708 | GRCh38 | 16 | 580,920 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | eb66bc3f69846d45e35edf0c226232db297aafdc51bbcae04d708d1c4633d0cd | a4f4bdb77d86c5abf2707e2537dd24809a74b758c9980de78ac3aa650bec8306 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-265239-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 | 265239 | 259995 | GRCh38 | 11 | 64,805,192 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 90fdc1116a4dd6d28ed683c2668ec7d3926ebbbb3651ca7fba3884a7f3b81f98 | ab1a9f5c79028105a2fbb562306f2cb333ae0044db7febe1428fd7943b2a2ebc | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-252015-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 | 252015 | 246316 | GRCh38 | 19 | 11,116,903 | T | C | Likely pathogenic | reviewed by expert panel | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d68bebd297152eddc69d260cc0bf2d8a41a9a240fd0947e4a898ea418f5c79fc | efb09609152943f3e4f897e43d9567962d7a4e94ac42c08433ff5c5aceb2e28b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2914970-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 | 2914970 | 3079708 | GRCh38 | 8 | 144,513,966 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 912193839c4f238f4356951d85aaad2fa2fa26d8f24eba2044f2c4d6a5f1813b | 99291c72b9cdf9cc6137f5f44ea1e02d8ad0ef6d5258734a890f8ef599867f94 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1773780-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 | 1773780 | 1830286 | GRCh38 | 5 | 147,828,113 | C | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 7caf667a98b7bd69d4d5d12ce12bfc2ffcee1f80bed005d36cfa558f8a34aca9 | b5d8c059a37ac1f3a0350bfa748f599151a8734a0081e3169aeaf455b63eaf03 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-155718-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 | 155718 | 165472 | GRCh38 | 12 | 57,796,461 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 12 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e2ca379a37bb1c858364d32a0f261be37de12753d0efb2a7669ccf423b0ce0d9 | e17510bfc248a2a3f681fbac13d407ea76afe4f34562ced05e2897c077283a05 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1301483-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 | 1301483 | 1291769 | GRCh38 | 1 | 181,798,733 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 091181340a6cc63f22a7b6a50b0edbd58f04f548940f97696382b95bdcead484 | 32261185016780ae51d5d3a2fd36a016518d7ab4610a3f427c705a9c93f6d600 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1283679-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 | 1283679 | 1273619 | GRCh38 | 22 | 40,353,398 | C | T | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e28662c78ada022ece1482c05586ce6fcd622db43d93bc341a7719aecf7599ee | cec135f1166e544dec91b080a999fded92aa55d55b3419a74f7a0545622c4d5d | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-89651-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 | 89651 | 95125 | GRCh38 | 3 | 36,993,661 | C | G | Pathogenic | reviewed by expert panel | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | be2bb7b6b89022f48db9f5c83479ec0764b530b6f98d15fb8e5a8fa5ce636c5b | 1d4573ab90f40a51aee14f83479dc5f86658cd5f9dea927d348ed1dac7006e65 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-379644-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 | 379644 | 369498 | GRCh38 | 8 | 47,912,405 | C | G | Benign | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | be018957e31404da6887fb2964328b78fbee5773a9ba1f0ff20ee2ca9bd40b79 | 3998cc0bbab09d7b5c2d85826d4a177edbaa8d7f8370ef1f171bdd7e92ac2a7a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-16291-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 | 16291 | 31330 | GRCh38 | 8 | 38,426,158 | C | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 02da3399930110975ec6340edd6ec94c185b0afd1a85afea2eed1310686aa20e | 319d84a3f36d4f9aa19e5e8f9aa5b3f0e23a87dc2eb679f8d176e9219fd8231f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-255605-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 | 255605 | 251490 | GRCh38 | 4 | 52,029,884 | A | G | Benign | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | f6ad9cf9ce97ba495498f2fb02e205df7ccddd011e8470135ab13d4fc8f567ff | f7c1aed313789246571cfb93e5a5608580da435c0c2215acc3b499edf904f656 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-527797-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 | 527797 | 533652 | GRCh38 | 19 | 49,637,110 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | bef332e88178bd74e947f8fba6fa095677105fa471d98e02dfcd9e9d007f37fe | cf0bc77f6bc73a2ec366c8462a516129cf71c1b4df867ed543da9a04377e359e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-516667-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 | 516667 | 500900 | GRCh38 | 4 | 125,317,242 | G | A | Benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 2a84e331de5464589cb2fc4d357398dd0ea2f46b666f01184918ddd3fc8abb45 | 25f5d6482a491d8429a652c188da663f94463d69a007a53c668f69cd195f9a32 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-417288-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 | 417288 | 393676 | GRCh38 | 3 | 52,403,423 | C | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ab355f0fa8ba9f84f3253ba15e6ebc33577839ca86bc39543497d63f73f3b291 | 788b8eb8dd952107dd84f3440585d31331c8ac00626f3e049fe40d786030d2c6 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1241865-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 | 1241865 | 1232640 | GRCh38 | 1 | 223,004,632 | G | A | Benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3b3e48abfb173e2ec08f9b0363422fe711404d6d351688b0a32875170dd28c99 | 2f88b51b21fecd5523122063b7cd7fdb0a74f41dfb119a8ea2b5481a16ab3f82 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2437838-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 | 2437838 | 2409136 | GRCh38 | 16 | 2,100,294 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 45fd8533d7dd2c8d9d7bef2de0f0bc7ee23104f4d72ed2f82597d8e5f81f4118 | 49801aa63eb95dd9a6e7a8879bdef8dac3d880c8bde9f82b4df9539e2d2b475a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1261337-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 | 1261337 | 1252535 | GRCh38 | 22 | 19,875,619 | T | C | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | bcbc94043d1022958acbbdb1e9784043be35a812c1134698b638db95ee074d61 | 5d2ea0b6a49e4de86f26ebfcb17cdb031104780e4e48c8b6d2a059d184679f6f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1686126-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 | 1686126 | 1678137 | GRCh38 | X | 24,703,241 | A | G | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 943747d62c84a4e95f5b24e9561d57664db14758be178ea235c21fe3d5f2339d | be4409fcc08c433177fd8b76269d8b532209097c2e60a4c1e1077065a3147326 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-707673-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 | 707673 | 691788 | GRCh38 | 5 | 150,129,960 | C | T | Benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | eb3cc8aec0b7b67edeb47085ed28bd88c193396b0c81e549a8e1a59dfd1a04af | 2fb1e6eaf3a99f20c147215f283f233cee6186f58cc846a3b18c63325920dc61 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-434672-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 | 434672 | 429859 | GRCh38 | 16 | 88,804,608 | A | G | Benign | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ec32aaea0a94bc1d0e8329f0dd55b0d304be83f80dc8673985426fbd3d894ee8 | 564a588aca577e83be69e3604e5dd404505b4f81b522b36faf9062e7916345c8 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-3634086-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 | 3634086 | 3766969 | GRCh38 | 2 | 188,993,452 | G | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 4327deb02c7fe4db73d05dbdbdaff24e5e37559cf0a51227bd04bd592692b765 | e53e8c7da3ebdb7fd8607debb8b9416423e6040f5099c4d898ed4220117bf40c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-6689-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 | 6689 | 21728 | GRCh38 | 10 | 17,041,160 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 688c6493d9df1edec04921d2215a7532c94fbd7b641fab86b8eebc2a0dd6d1a4 | 60d17a10cd37ac70130e7a4cb28d3e597310743c39bc19b2f940aa0c4f134fe2 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1645561-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 | 1645561 | 1652860 | GRCh38 | 7 | 150,957,312 | A | G | Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 946ff75c7d6867fd326801cad1a58050299b5823ccf23709cb8ebfed4b2d4b03 | 46f4eb06dfcc8863186b81d6dbadcbced863416b22b4ddc341a83f1c97314619 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-99070-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 | 99070 | 104959 | GRCh38 | 1 | 94,063,224 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 13 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 297dc7b74a42721c621dad9adb3ae4d29c8c20d75a7fe6128fdf50d1bb0d5e80 | c9e2704171bef437e56864f341eb0c08c7c0f2399aea68111022b6a09d73aac5 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1293123-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 | 1293123 | 1282929 | GRCh38 | 19 | 7,557,340 | G | A | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 5d09f86355f21b1c2d1ad4452eeeae9c579d7d4294d8df1c9d74b097771e4dd3 | 366e26b9b2580d1c00ef58e2d9aa6375599af67a0431201250cc6330f0b1af2f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1703444-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 | 1703444 | 1695834 | GRCh38 | 20 | 10,652,583 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 407ef1f72f1db291d5d75351235e7f716d28f0c7987dffe5342f1250e89ed704 | dbd4620a9ae0641b5f04a5a55a6603da65fe9e325af1abb21821fa76fa911bdb | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-375250-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 | 375250 | 361945 | GRCh38 | 11 | 108,243,952 | G | A | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c54261a090a38cead607414f7660865faf57299031808557711a6649d75d5982 | bf1169ee028dc39b1ec1f2b95171bdb9f48ef6e2cc038fcc4e2850fb1e97d7d2 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-570071-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 | 570071 | 556564 | GRCh38 | 1 | 11,802,962 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 7 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c3b9707c719f8f03ec01b57dc58e19085be1c9d89881f0c5a099f85ed700acf7 | 7d92d2c70f839313a7d75c3094a3fa8cbdf853126ec2cb1e61451ac7ad47c2cd | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1733189-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 | 1733189 | 1796263 | GRCh38 | 19 | 1,218,486 | A | G | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d6dc39bfc2159d31414125b02ea217dbf10b7c9a72752701b5e375d87c74655e | 134ee940525f90303ee14cc5319fe5d9dd84cf4274e88f0b105d53fdf867a9b5 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-623373-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 | 623373 | 612302 | GRCh38 | 13 | 47,954,440 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1fe127245fafc496bec3962dc96fb80f2b567e1b45aefd4078c5315908887ff7 | b465b9ad03bde252360120a2423664f3f83a7094afe8fa13089ff33f9c4a2501 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-553330-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 | 553330 | 548117 | GRCh38 | 17 | 3,656,795 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 11 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 602e4ec5d7d294a2aa4f6fd9359bfe3898145f8fff623508c8cf5df905a76329 | 16ab5494f5c26ba4abac2b2f618cbe96ee539a229105ebfc3dad1b8d3897ffe9 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-370403-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 | 370403 | 358646 | GRCh38 | 21 | 43,071,984 | C | G | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0c7f82cd57168def8fed3a08da8015f65e259172db69860b3aab7ded9b0d2ff9 | f5b0ff0fa34c576dff0e51e64c7893c673ceb15ee7f581f889ca1a78afa145f6 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1278301-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 | 1278301 | 1268178 | GRCh38 | 1 | 214,401,779 | T | C | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 4bb19b73312fd7e0ccc8f7857d3908ce507cd84ff44d75d78e3a5ae9e1de423b | c0a1c92edb1d7d16bc45aedc33a4b19f462089e757deb0f883d9c65522e25a7b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-968598-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 | 968598 | 952519 | GRCh38 | 1 | 68,446,831 | G | A | Likely pathogenic | reviewed by expert panel | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 6949ed2fd097b0b005bcf2e2c55aa421f2ce8db80c8fee1e32ba5d3d030bc73d | 166e6c81f38211be24422c2222c62d8399e3e15eb066f245b42b33f589896933 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1482969-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 | 1482969 | 1464952 | GRCh38 | 10 | 13,299,967 | C | A | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | cf89fdafe656943db176a7c64789d924cd8bbd70ef0d93891aee826f7b9f598c | f3bb466ea56abb2a84ca26e454dcfee2d8289671a9243030a9a57dbe16ef3e99 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-380578-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 | 380578 | 365470 | GRCh38 | 1 | 99,874,634 | A | T | Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 9ae6702c83d8b94887cb8fd54dd205b747705279d380957f9a87a3c46dd84ddf | a981d2228fcaad5f8d7985012c5882ed803352323101fd8e2a5902ead46c2a0c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-923740-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 | 923740 | 912536 | GRCh38 | 14 | 23,427,589 | A | G | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 6d2bb40e1b6aaa17abe515303df064cd00d4139703d433f97072cc122db0f6b2 | 9d2fbb17241e3b9373f8a71874ba346a3fd8f81fcf6410b8148652035f50de44 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2573212-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 | 2573212 | 2738161 | GRCh38 | 12 | 102,844,407 | C | T | Likely pathogenic | reviewed by expert panel | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 97cbcb0ee11ec8cd5f190e08bf772fe437d4b326ed7794b5631083705a581b17 | 57dbcaa9c1e017d3f46b91512e6cddc10d04e1248077a78583f5636aa0760291 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-43587-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 | 43587 | 52756 | GRCh38 | 17 | 7,670,669 | G | T | Pathogenic | reviewed by expert panel | 8 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 383bd4981c073aa5e52fa55f5634a16a269b5e652e661af7544d6200398bc6cc | 6036c2e86c6c4cd712bad92e65e1e05931dfe21c0dc04423bc24eeb6cbd01282 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-3385885-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 | 3385885 | 3545026 | GRCh38 | 1 | 237,830,526 | C | G | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3dcab5e2b3f88416929733c43c6d07a43b19823946fdaa55d84eaa252f33479b | da4eb699e935343ad2efab86b08235ca3c598f554136d207c3c3ad34a77662f3 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-223371-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 | 223371 | 225100 | GRCh38 | 2 | 178,617,393 | G | A | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 4548732acf785b393a37e2dd46ca5991b69dac7dfcfb95393b6c33af10e8c57a | 8e2d2659b2d3f37486107bf09a275635c31aa2609c81961d286f6905b0e0f60f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-479229-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 | 479229 | 478651 | GRCh38 | 17 | 43,091,596 | G | C | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d4cb48bffe8859b7450982d6498d057c7ac0ce4ab110bac706e51f16cf5caa09 | fe1038cade2a87142ceafb244a54b4ac69dbe6428780639691a1c33ff18a84d5 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-676621-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 | 676621 | 657365 | GRCh38 | 1 | 215,899,947 | G | T | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | adba1e6ac3e2d608c963212b4a36c589a1ba60ee3556460c0d50b54f5773d001 | cefc0a22504e1b4944f11211c3bff003c701df450834f9a4f58ae25339fe9f2e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-667015-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 | 667015 | 654323 | GRCh38 | 3 | 38,620,919 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | f3dafd9ecdc6146bdd881acd98917b0fb78f490aa70ebfba3fb4439e67e5b98a | b8013dd7f8d8aa3bbfbb8573cc27215044cf81aa6985a7ccdb6f36f00d568452 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-696948-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 | 696948 | 684997 | GRCh38 | X | 40,062,184 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 12cee1418180cf0b9e0bcd065c55db60625be34ce69153b3b8eb272bd422b46b | 343078d2e6b7910b4ae00b3b3ba42f73ab175638396e31d050d92be92f35ad49 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-803765-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 | 803765 | 792235 | GRCh38 | X | 22,219,085 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d8d9234e862ad42de38e6927eee1dd0abf7c366c08d7f9fb890642539f936636 | fd6f3bb58c75c9785c9bc25be4d7cc2c8398e40e7e0ca2a33822c4e8f5b9eaab | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1170765-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 | 1170765 | 1156818 | GRCh38 | 11 | 684,913 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 92f88dcbb571d635e0cbae096b5520be02f1a275ec545b216db99787734cb455 | d0108c10509cc2e2c699538669dc2be9b95e87e9208da064bd03234c08cc1ed8 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1519873-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 | 1519873 | 1517162 | GRCh38 | 6 | 3,225,185 | C | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 2f19b32d4ffd15b5fc730ad76db071aa501c290aab94aba48544f6cbfc498df5 | 1a25c24b9a9267584701291bff7013090115aa57747333f0edc068b4ed01fe87 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2645468-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 | 2645468 | 2814250 | GRCh38 | 15 | 66,387,356 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 86477375f2d23fc25b1a2b2d2ff0a2cf4ea86b9f135ae8a36bf431462f39f423 | 0053092e5f297ab419e98b782a34611b6abc2cbfa5d537e37bb7f3766d9de3d4 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-3336527-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 | 3336527 | 3495204 | GRCh38 | 17 | 42,543,316 | C | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d576a9a4a2591a23048794f87f0124a6af7acada037c14a1e8bcaac53326f738 | 20d93ef7c0f3d07b43b82ea1c7077bc8ea98b28febb59ac0ce956c8a27641163 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-579848-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 | 579848 | 568459 | GRCh38 | 16 | 89,282,336 | G | C | Pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3ed9bc477688554e84c31791efc84e75c22019d13fda3cc635537bf4e697621b | 0bba0b60c49980e288724cff013f76a772dbe3dff2cb0f216302afcb02bdd9ad | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-65277-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 | 65277 | 76209 | GRCh38 | 16 | 2,076,067 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1359d4fba51dcabca1e4cdf7829791b8f3cc2391ff4642d4c1c89be4a7f84fa1 | f177bc03ee8b050eed52e7fa16ba820852a6929319b1a127b3e8b6c69044b0f9 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2944236-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 | 2944236 | 3101407 | GRCh38 | 1 | 68,448,663 | C | T | Likely pathogenic | reviewed by expert panel | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e526130432b42510cc7aaa4cd780f56d2021ff72527b7bb26f3967294d45b462 | cca71ba8989d7b8ee81f525745ee4d52e16e3dd25d93d7d8c0aa5a3477f52836 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2443009-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 | 2443009 | 2416730 | GRCh38 | 2 | 5,692,876 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d430b1c8dd4fd7f8ba56e68dc0c18289b5d3da0c2bd42e8efb0f716748ae3601 | 2b503642cc09b74fefff6a2722811c6f2ae2bffa09336f68d98bf2de00fc5382 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-773825-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 | 773825 | 701958 | GRCh38 | 11 | 69,086,561 | C | T | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 79661a5563bae0679901cf8342d1710eeab293e84a962919bbd847fc8866cd4d | a6bbca63338facfb7070da9288c29ffef079fa2124da25fd12c2961c456ef606 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-217167-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 | 217167 | 213892 | GRCh38 | X | 71,223,931 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 8 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 12612aca7b16518647d43c78d7908f36450d7323cf97a43f0e77c25e854b6fc0 | ca20d11e3fff0296d229728c52eb42ed762584de1ed5c810daa71875a6cbdf00 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-725466-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 | 725466 | 738185 | GRCh38 | 11 | 6,640,855 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0f13728db2dc607f1a97cd63b86b7d00a0201e2a6de761a8626b43220d8fe7ee | 1808eb65accc3aa06131eef655080c3d228f3199662edc7d7b7af66d249ce2f8 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-330260-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 | 330260 | 334445 | GRCh38 | 19 | 6,495,212 | C | T | Benign | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 572bbe445787a1be7c5cfa7d5acd68fb1bd9d9a02fe7e1086ea9c35877e597ab | c2c717b6170cac5fa856fcad1adde7abcb70007ac26963a21dfc6f95bd3b54db | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1198683-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 | 1198683 | 1188915 | GRCh38 | 21 | 36,759,424 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | f6f96de46cb8996151d4b3978b6eeeb78e83e6041e0640342d4dddb7c5a21e00 | db958e789e9a33f1880edbd62198f6d346625d0e5cc17f3e801b02f5c2a82a09 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-449348-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 449348 | 446517 | GRCh38 | X | 149,498,127 | T | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 86918aaa15833af247b9bb68327147eca7b671f8082bde8c002b8ad541545b36 | ac39a4837738668e742a80cec9eb1e742e917130683930e1ca6e7888b8bfd553 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-491800-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 | 491800 | 483403 | GRCh38 | 2 | 47,478,253 | A | G | Likely benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 45c1b66fa30c1b7bc5f210b919094be085a171005d820429f4988f5886140779 | 2f3b7528d780fc8f5e2ab7ebb48121081949f787e13ffaa97aa5b1200f563990 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-577956-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 | 577956 | 569663 | GRCh38 | 17 | 65,558,387 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | fd22a11250eeb62f29ce21826a66a30ae84c13ebcadbedabeaba3789c9495df1 | 1d74db411f89fa11865da2714fd1a93a710f1cbeec67a105fbf5c82429f415ef | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1743966-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 | 1743966 | 1798863 | GRCh38 | 1 | 2,228,814 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 6b3ccc944a06eb744d8a229e7082c26eb596ba829503a5c032a6a732b8d1274f | e7fcbbac1cacfd4aae59ce66ead392987594df56d4332421377f508fe8890c92 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2961407-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 | 2961407 | 3120024 | GRCh38 | 7 | 55,173,992 | A | G | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b9098b7a15dc5aa2eba6eeaa629ec22f65c9458168810d1648c4ba624c51ac84 | c9b93b003b069618117a6518c5a2a17b992222ed7744bfcd333dd73073b4efbc | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1246421-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 | 1246421 | 1236372 | GRCh38 | 11 | 64,299,387 | G | A | Benign | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c294aa4a28597b217376caac28faf4784ab4cc86f4727d677992efd5baa6692c | af6253ae067a0d74809bde11329eb75449a3b616f0760a312ee9c252f63d7560 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-754267-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 | 754267 | 761268 | GRCh38 | 1 | 156,873,865 | G | T | Likely benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 8fcf4ddded1683b9f22b2082b0bc6090a4fa111e7252450544d1729dd3c4d6ec | 942f908889ba654b1026cfb750421a931345452c0ef963dc4a9a3f3ca9fbaf91 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-372839-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 | 372839 | 360165 | GRCh38 | 14 | 67,797,750 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3442b5106bb43b7e05a9c286473ac06b79b8443c11043a68f8440b173f0271c4 | e8cb599ca8b4e4670a8f03c4cd4216338ca756c525bb200b2d82f9acd2426edf | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1183663-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 | 1183663 | 1171775 | GRCh38 | 7 | 91,995,977 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | a9b6f00f0f7f8de2e9d6595c1fbb103a18f1dfc0f01f43e48710e020accc1e56 | 3e965bf86b2a61c9c62afd2730eb98d8c67ba8ce74237a4027979671f3bbcd0c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-541003-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 | 541003 | 521264 | GRCh38 | 5 | 148,409,186 | C | A | Likely benign | criteria provided, multiple submitters, no conflicts | 7 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 295bde948138d5c2190c7b22de178eb7af49274aac86033afb5bd0cef4694bf5 | 91810c3fb0ddd27a782d2bd25b4fe557b35cdaea874aea477ed1a768415f5f25 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1452411-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 | 1452411 | 1364132 | GRCh38 | 9 | 136,505,413 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 52914ac36e30a074c0b535a3047cd9c428481ace1c8df4dcfc135e3e52ee43fa | 59b6c41f1bcd18b2c5c6fe9434bd22c790413e1dca07d2e169c26bd9c8eb1afa | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2817163-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 | 2817163 | 2980821 | GRCh38 | 16 | 88,650,996 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 8f2dadaece86b68786044a8e283c8d7742c75d907f9ca5621ba1051210b52e3a | 7125814e0d1ea4f3b9ef676dd818ec5408384bfab1b5e533ee93b54e63539047 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-102731-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 | 102731 | 108467 | GRCh38 | 12 | 102,855,297 | T | C | Likely pathogenic | reviewed by expert panel | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | dca5f59faceab9ba58d0e398508b19110e77d565c2010d58214fd398e5090293 | 7975d4e8e53bd837601a5e773d47dceaabe853b9af8bc393e24db7d6c20ad002 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-836113-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 | 836113 | 853016 | GRCh38 | 22 | 28,687,987 | C | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 31320cb56567b5a919d3a75244e240a7560cc3b1f199ccb6191624deb4fc9a9d | 62b72abb37d10d8c3322eb3aa0b12466e1b1c4cd10133cc8b235e2cd228f62d5 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2721081-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 | 2721081 | 2887607 | GRCh38 | X | 153,872,201 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e918eb2867d0b789ba622f0929d57c7ea767ce618176f2a5b5e9251add6f2cfb | 83483a2935492367c1e34bd432dd7e9c9c87b96eaac1583e67bac53c2b5f35f7 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-261791-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 | 261791 | 254447 | GRCh38 | 12 | 123,687,063 | G | C | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 80ccf6e0dfdcbcdcbc1aa38a5eb221d43010b22468a95b0ffb33222350c46495 | a5773e795c763fd7faf4162589c98772a3e0773e280a2ea79c3713e5c94089e5 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-701391-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 | 701391 | 687564 | GRCh38 | 9 | 95,506,419 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 9de4e72a6b61bcae43c7185e3ecdc5bc74d10d1fb3b6425120c249aeab27c994 | 9a0dbae9c1669919d9f6fa56e71570d48ad0bece208a615d193252ac5bbf5496 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-929150-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 | 929150 | 917245 | GRCh38 | 17 | 42,909,365 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0c4f856a556698a68c992fd903ef489976c6058cc876bfef0f4e45164233f859 | 7105d5c345b8993b9e65b0a5cb60e6cffcc175a4f6bc2b7ca3a10013e86afac9 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-56204-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 | 56204 | 70843 | GRCh38 | 1 | 40,080,474 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 8 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 91c69ab58f84f89c593f8c7fa0022464d83ab6d76a5988e3b227b2c4d12f4924 | 554a0045a086d8aac0d85a27ee2121d8931094e9b7342e2c576827ce0013c08c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-715436-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 | 715436 | 718390 | GRCh38 | 1 | 172,388,786 | G | A | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d7af2003efb6b62500894086a92b5ef8785f3923d78b6af88dc641b47f1be3f2 | a5e3911bebe896c3217a8cd50a1470cb0c275ede0e10b1bcf29805dffcdc03f3 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-43566-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 43566 | 52735 | GRCh38 | 7 | 107,675,060 | T | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 32 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0c2b6d940dbcadf2248e730da62e0f300d26601a2c5c94f526d2cebc045e420e | c99b1ad15c413edf593ae837440057f8699f1a7c0bec0af908e8f4bcb454b917 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1098387-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 | 1098387 | 1087036 | GRCh38 | 3 | 136,473,547 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1fbd7ad53615133e2514bed2db4cd4f7c63a3b1cba25b27990da2583d9a8bf55 | 030ea5cf4ec3c0d441f64fa70d0d7bd3f88102e0e3053ec8ee33aadc9960c3d9 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2677645-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 | 2677645 | 2836521 | GRCh38 | 7 | 92,501,998 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 199d501ea51a1470434f43fe9b70087b2e6875e57effcac1afda33674249e9b8 | e5522757f1b9dbbe3544252cea242b0aa7880bc6e28641f6a028036b8a89950b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-465245-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 | 465245 | 447720 | GRCh38 | 1 | 24,342,967 | C | T | Benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ae84fd41e34344746e6744ef3a39ae261fc88c88b7547fc8169b5531047cb6e2 | 9db6c005f9859b68998b5cc5bf94e9714827a9355cd803c20ad2ecde1b9da722 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-457465-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 | 457465 | 454489 | GRCh38 | 5 | 132,640,740 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 5f130863f1ecaf91e546fd8eccfc484ba08e83cb64c89fa13a67739a8f501bfe | 3554cf84826fe24e8c1ab935b7b9878de038dbb1a0fbc238d7b5482aa0f087cc | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-257573-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 | 257573 | 252343 | GRCh38 | 6 | 36,293,137 | C | T | Benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | df502b2e3e6bcdc25bc4813c2c3d64f93c90f694bdaa0723f56e471bca182663 | d7e05c224eb113a6ff568d42aad15b322faf1367764539506dc60f8dd0d24177 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-3236151-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 | 3236151 | 3395270 | GRCh38 | 2 | 227,094,254 | C | G | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 689a3abd7e74d086f7c9dab9e9995cddc660141227ebc4c176dcdfc98d457a05 | f32efd3d12d47f45724ca6e11c989c9770091faf57014aa3950b43b8b4b8a02b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-350801-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 | 350801 | 300768 | GRCh38 | 5 | 128,538,038 | G | A | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d01fda90fcc062de7e81f745c5bbce539e6f80cf4a1d0bc1bf97c95f2970621c | 54ab9cfcf27942a1298360cf410d46acd25752100be7165d10ce3c2bd900979a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-484086-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 | 484086 | 478125 | GRCh38 | 17 | 31,232,698 | A | G | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e34af507b4d53519ffa829a938f52fa9599ebedf6bee8738a8e405c4960d5f62 | fbe694300ae5cf5081085879dc67a7f0f5e55e4a7624279d33fedd975c2fdbe7 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1229739-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 | 1229739 | 1220993 | GRCh38 | 17 | 4,168,008 | G | C | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e40480ef235e43f6e0be890f379f927495e8bf52a05787a1c15787e76de1ec32 | 8f7895944f71cc024940645bcb7940bf48ca5994940bc17ed796d18c1f5180a2 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-7475-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 | 7475 | 22514 | GRCh38 | 1 | 150,509,696 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | a43f07a5271adac15b077766667175bad26c29ff628885d3f0e5c0e8baa6bc61 | 7b9270af5b7695f18704485bd50e67fd9b1878a8b0a04d9b52edb923071e72e6 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-136744-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 | 136744 | 140447 | GRCh38 | 22 | 28,694,086 | C | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 17 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | db4cc35d5d8f59175f674f9fd82fdbd627c9938df11654248a665cd6f32bcb1d | bc3e59434e9202c83115942a14582547f07bb7331460feeb7d78e064e25503f4 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
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