id stringlengths 43 56 | task stringclasses 3
values | question stringlengths 8.44k 16.6k | prompt_suffix stringclasses 3
values | prompt stringlengths 8.55k 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-193954-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>AGGCCCTTTTGGGAAGTTCAGGTGGAGTTAAGGCCACTGTTCAAAGCGTACTGCCTTTGTGTGCCT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>AGGCCCTTTTGGGAAGTTCAGGTGGAGTTAAGGCCACTGTTCAAAGCGTACTGCCTTTGTGTGCCT... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>AGGCCCTTTTGGGAAGTTC... | clinvar_variant_summary | 193954 | 191117 | GRCh38 | 14 | 64,221,672 | C | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 8 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d5766abba72ccd295c0ec4be8628e690166fbfbc2622e07810dc46f098c55f65 | d7d91fd1f580e8c89f8d03808dc676dec23d3b7ad00e1096081ec270ee939028 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-952009-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: T
Alternate sequence context:
<dna>ATTTAAACTTACTTAGTTAAAATGTTATACATTAGCAACTGCAATTAAGGAGCTAAGAAATTCAGC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: T
Alternate sequence context:
<dna>ATTTAAACTTACTTAGTTAAAATGTTATACATTAGCAACTGCAATTAAGGAGCTAAGAAATTCAGC... | [
"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\nReference allele: A\nAlternate allele: T\nAlternate sequence context:\n<dna>ATTTAAACTTACTTAGTTA... | clinvar_variant_summary | 952009 | 940902 | GRCh38 | 8 | 31,087,774 | A | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b2cb440d98844d4ee8854f434247d9251ad8a671dcf7771113d4b33e5928300c | 5a442d539d63577909ba8d26cb189183249993fc766c8c24c2d34ed66590400b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-3231-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GGGGGTTCCAAATATGGGGAAGGATAACTTAATAAATTTACCACTTTGGGTGAGCCTAGGTTTGAC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GGGGGTTCCAAATATGGGGAAGGATAACTTAATAAATTTACCACTTTGGGTGAGCCTAGGTTTGAC... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>GGGGGTTCCAAATATGGGG... | clinvar_variant_summary | 3231 | 18270 | GRCh38 | 14 | 77,296,223 | C | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 51c8429e9e3355d28317a0db83ec83e19a179ef2cfe1eb8e301759b1be1321b4 | 0bfc9fd630352312df6855c8e9e9e68f16c08a8a83b8f7ff214591db339b1566 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-413909-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>CAGTGTCTTTATCTGTAAAATGGGGAAAATAATGCCTCTTTATAGAGTTGTGATGGAAATGAAAGG... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>CAGTGTCTTTATCTGTAAAATGGGGAAAATAATGCCTCTTTATAGAGTTGTGATGGAAATGAAAGG... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>CAGTGTCTTTATCTGTAAA... | clinvar_variant_summary | 413909 | 397537 | GRCh38 | 10 | 102,617,353 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3307152edf5c6d4173bf71e20ac9ef28932cf347b6b5d70a1e425af94bde9357 | 3a956f7851262aa250ee9c85bdbc7d49ba7c183593ecf757909beb6183f0c6f1 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-463171-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>TAAAATTAGTAACTTTATAATTTTAATAAATCTCGAACCTTGAGTAATGTCTACTACTCCATGTGA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>TAAAATTAGTAACTTTATAATTTTAATAAATCTCGAACCTTGAGTAATGTCTACTACTCCATGTGA... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>TAAAATTAGTAACTTTATA... | clinvar_variant_summary | 463171 | 447250 | GRCh38 | 1 | 119,968,093 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 734137bf4effd09bb1cdd9ff9097cc85f452fecb86dfa3381aafeb9d0a084966 | da13f777a7f186987c23db2eac9343ddc8a1a23fe5e08fdebc68d82d2a43ee9f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-251515-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>CTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>CTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCT... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>CTACCTACTGAAGAAAACT... | clinvar_variant_summary | 251515 | 245848 | GRCh38 | 19 | 11,107,479 | G | A | Likely pathogenic | reviewed by expert panel | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 6a3887df3ff1d59be25d0a9b4a9987057e41db30aee3837a93fc72bb4cfcc754 | d7242f025c2d3ef5f4fb9f7df7963cc10d35768d6de8693db673a613299cbaa2 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-481360-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: G
Alternate sequence context:
<dna>CTTGTAGCCTATTGATTATAAAAAGCTTGAGGTTTCTCTGTTATAACTCAGTCCACTGTTTTCGCA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: G
Alternate sequence context:
<dna>CTTGTAGCCTATTGATTATAAAAAGCTTGAGGTTTCTCTGTTATAACTCAGTCCACTGTTTTCGCA... | [
"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\nReference allele: A\nAlternate allele: G\nAlternate sequence context:\n<dna>CTTGTAGCCTATTGATTAT... | clinvar_variant_summary | 481360 | 475599 | GRCh38 | 11 | 108,250,875 | A | G | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ab9c09fd40e1188a7d2048b6d95e0c24204f64f10aa09b0cf2b3a9fd9447c2e3 | d4aec0e0b340ba3c343fb2bf3adb3ba47f203e9cf75440457ac63786c14987bc | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-3295-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GCACAGTGGCTCAACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GCACAGTGGCTCAACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGT... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>GCACAGTGGCTCAACTCCT... | clinvar_variant_summary | 3295 | 18334 | GRCh38 | 22 | 29,674,891 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 7 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3e6605c10a7d156796ed55dee615521dc996aa1b28d538ef24848e12c47c4f4c | f49b9899dfce57acb6c83394ff9a39139fcf9a6fa06b227a8aa2b5ebf055ef05 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-698843-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GCTCTGTTGCCCGGACTGGAGTGCAGTGGCGCGACTTCGGCTCACTGCAAGCTCTGCCTCCCGGGT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GCTCTGTTGCCCGGACTGGAGTGCAGTGGCGCGACTTCGGCTCACTGCAAGCTCTGCCTCCCGGGT... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>GCTCTGTTGCCCGGACTGG... | clinvar_variant_summary | 698843 | 687984 | GRCh38 | 12 | 32,843,276 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 8 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e2f709166363bc0863365e0420b23b9912ca0372bd044113eded29e45dd5944e | daa035c443799163a827413ab36892f04955fa207746f533ed37c0b2fb7770a6 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-255552-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: G
Alternate sequence context:
<dna>CACCACCAGCCCTGCCAAGAGAGCTTCTCTTTAAAACAAAGCTGTTACTTTCATGTTGCTGGCATC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: G
Alternate sequence context:
<dna>CACCACCAGCCCTGCCAAGAGAGCTTCTCTTTAAAACAAAGCTGTTACTTTCATGTTGCTGGCATC... | [
"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\nReference allele: T\nAlternate allele: G\nAlternate sequence context:\n<dna>CACCACCAGCCCTGCCAAG... | clinvar_variant_summary | 255552 | 257311 | GRCh38 | 20 | 10,642,618 | T | G | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 9 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 4ceb984d7c209775e469b6e1b2d339db1e1372eee9326d3ab8a545dd6b9769a6 | 49be350216bf65029d798c191c67316e1ad4e4de5aa4954d0fcd4700df680e09 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-320950-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>CTCTGGCCATGGGTAGGGGGGTCTGACATGTGGGACTGGGCTTCATGTGGGGCCTGGCTGTTGCTG... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>CTCTGGCCATGGGTAGGGGGGTCTGACATGTGGGACTGGGCTTCATGTGGGGCCTGGCTGTTGCTG... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>CTCTGGCCATGGGTAGGGG... | clinvar_variant_summary | 320950 | 344367 | GRCh38 | 16 | 88,433,502 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 7 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 262f7609dedfceeb6674f9d9d742f3f7592983d0b754f8d3e20980034460a7a8 | df3b88f768f5cac6767ba0e5749d475b82d819994a2758e41dde1f90ce0be479 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-506372-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>ATCAGTTTCAGCTCCTGCAGGAAAGACCTTAAACTACAAACGAGGGACTGGGACTCAGGGAAGGAC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>ATCAGTTTCAGCTCCTGCAGGAAAGACCTTAAACTACAAACGAGGGACTGGGACTCAGGGAAGGAC... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>ATCAGTTTCAGCTCCTGCA... | clinvar_variant_summary | 506372 | 498652 | GRCh38 | 1 | 3,425,762 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 132e8d3e8342c13be3796ac4bf79716ce8ae55c47c03afc6eaee52e73936e363 | ae29e18db1b21a36b494873157a26fdeb951b7ed1748179adc1f62e98535bb64 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-552860-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>TATTTTCATGCAACATCGCTTAAATCATTTACAGTTTTGTGTGTTGTTTTTTTTTTCCAAATGGAA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>TATTTTCATGCAACATCGCTTAAATCATTTACAGTTTTGTGTGTTGTTTTTTTTTTCCAAATGGAA... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>TATTTTCATGCAACATCGC... | clinvar_variant_summary | 552860 | 543135 | GRCh38 | 3 | 49,419,292 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 65530aae38995654ce5792c5cd0760beffc4c314776ede8a6561c61ce2899483 | e351bb8f5c7b8082e9b43c0d33d91e6acd584927bd3d4e857de3b5b46d16c4b2 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2734397-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>AATGGCACCTCCTGCCAACAGCCACATGAGAAAGCTTGGATATGAATTATCCGGATGTTACAATGA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>AATGGCACCTCCTGCCAACAGCCACATGAGAAAGCTTGGATATGAATTATCCGGATGTTACAATGA... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>AATGGCACCTCCTGCCAAC... | clinvar_variant_summary | 2734397 | 2894434 | GRCh38 | 2 | 219,147,660 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 23fef6306af8d75779384c0430acad55fe2b3db0240fefaa503d18830605a1f0 | 613e498fac44a59dfd95abef2ddf83f2226369c8ccceb040935eda4481625c96 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1203080-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GTATGTCTGTATATGTGTATATATATGTGTGTGTATATATGTGTGTGTATGTATATATTTGTGTGT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GTATGTCTGTATATGTGTATATATATGTGTGTGTATATATGTGTGTGTATGTATATATTTGTGTGT... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>GTATGTCTGTATATGTGTA... | clinvar_variant_summary | 1203080 | 1193638 | GRCh38 | 5 | 7,895,909 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b38e3e0e4144c23ab7541f5176e3d811dd303186be5e549eceb7a8d8299547bf | 09d134053e1dee287bcfd22fbc7d6648d95868ac30d61a334cb183c6f33c12b9 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-524264-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GCACCTCATGGAATTCACTGAATTGTACGCTTCAACAATAGATTTTAGCATACGTAGCACCTTCTA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GCACCTCATGGAATTCACTGAATTGTACGCTTCAACAATAGATTTTAGCATACGTAGCACCTTCTA... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>GCACCTCATGGAATTCACT... | clinvar_variant_summary | 524264 | 525930 | GRCh38 | 11 | 108,257,571 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | fed5a852482ca1fbd45b2df39ac87b9700d8ab4ab92eaaafdcac4c52a7a3f96d | d85f8ef53ba62e6f81afb8724a9e62fe648e3d69c6a77cc3c5264413a68417ef | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-185346-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>AGGCCTTGGCCAGCCTTGCTGCCAGCGCTGCAGGGAAAAAGCCTCCTTTGTGTGTGGGAAGTTTAA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>AGGCCTTGGCCAGCCTTGCTGCCAGCGCTGCAGGGAAAAAGCCTCCTTTGTGTGTGGGAAGTTTAA... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>AGGCCTTGGCCAGCCTTGC... | clinvar_variant_summary | 185346 | 185475 | GRCh38 | 19 | 1,218,444 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d30a427262250ca347a0425e8ed8e1b3657003be153ec61f0ca7b513eddd12e1 | 3550fe5d5c4bf90204736f4243aaad6be9686753d6084f9393ef1a054f2b10dd | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-413390-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: G
Alternate sequence context:
<dna>TATGCCAGGCTCTGCGTTAGCAATAAAAGGAATGCCATGCCTCACCCCATCAGGAGGTGCTGATAG... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: G
Alternate sequence context:
<dna>TATGCCAGGCTCTGCGTTAGCAATAAAAGGAATGCCATGCCTCACCCCATCAGGAGGTGCTGATAG... | [
"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\nReference allele: C\nAlternate allele: G\nAlternate sequence context:\n<dna>TATGCCAGGCTCTGCGTTA... | clinvar_variant_summary | 413390 | 393474 | GRCh38 | 3 | 37,026,005 | C | G | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 31b92197a2440b8fd8270aed6f292425e89c2722d594d5efdbcb84a2935adead | 59d6094fcd1a25aba4e07f328a9a79c4b64a208564e96c3bfdc845bea306dc67 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-283091-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: A
Alternate sequence context:
<dna>TTCTTTTTGTTTCTATTCCTCTTGACTTAATATACAACTATCCCCTGGAAATACCTTTCTACAACC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: A
Alternate sequence context:
<dna>TTCTTTTTGTTTCTATTCCTCTTGACTTAATATACAACTATCCCCTGGAAATACCTTTCTACAACC... | [
"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\nReference allele: C\nAlternate allele: A\nAlternate sequence context:\n<dna>TTCTTTTTGTTTCTATTCC... | clinvar_variant_summary | 283091 | 267328 | GRCh38 | 7 | 16,216,131 | C | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 552a37cf3f354392cac33328a6b7645175337b7a06bb09f832a6e81b01035c63 | 1b671399f1533fc381aa05ca9fc6a9b0c61b5d4d20e0457e74c8a472c178840b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-954127-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>TGCCGCGGGGGCCTGGGCACACTGTGGGGACAGTGCCGCCTCCTGCTCTGATTGTTTATAGCAATC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>TGCCGCGGGGGCCTGGGCACACTGTGGGGACAGTGCCGCCTCCTGCTCTGATTGTTTATAGCAATC... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>TGCCGCGGGGGCCTGGGCA... | clinvar_variant_summary | 954127 | 951140 | GRCh38 | 20 | 63,355,995 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 88769ab6c3eca2e738bd64d3050e9e8d3abb715f43a877f27edefecce8218194 | 08298c19970c12724933ee9c97bfd7a2d9c3a0093993ce43d873be0871458c96 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-714204-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: A
Alternate sequence context:
<dna>TCCATTTCTTTTTTTTTCATATATATATATATATATATATATATATATATATATATATATATATTT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: A
Alternate sequence context:
<dna>TCCATTTCTTTTTTTTTCATATATATATATATATATATATATATATATATATATATATATATATTT... | [
"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\nReference allele: C\nAlternate allele: A\nAlternate sequence context:\n<dna>TCCATTTCTTTTTTTTTCA... | clinvar_variant_summary | 714204 | 720168 | GRCh38 | 3 | 130,598,428 | C | A | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3f903aee48a1db9e9e7163db5bc43a06a09daed737cb30b46ef6c0bcb94dcd97 | aad387e9f63774fc25cf0e488a6333e709eea6573737d7842e5dc433f8c2cffb | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-14780-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: C
Alternate sequence context:
<dna>TGCCATTGCACTCCAGCCTGGCTGACAGAGAGAGACTCTGTCTCAGAAAAACAAACAAACCAGAAA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: C
Alternate sequence context:
<dna>TGCCATTGCACTCCAGCCTGGCTGACAGAGAGAGACTCTGTCTCAGAAAAACAAACAAACCAGAAA... | [
"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\nReference allele: G\nAlternate allele: C\nAlternate sequence context:\n<dna>TGCCATTGCACTCCAGCCT... | clinvar_variant_summary | 14780 | 29819 | GRCh38 | 21 | 31,659,806 | G | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | aeece095444235cbeac4d957817e50f455c561d7fd682b7f7b6d9f68ad48da70 | ddc2a97f8a43a080342dbfcc02b4aa4079c034aea541ec33d031a7b5b2e83a74 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-239434-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>AACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGCGTAACGCCTGTAACCCCAGC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>AACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGCGTAACGCCTGTAACCCCAGC... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>AACATGGTGAAACCCTGTC... | clinvar_variant_summary | 239434 | 238178 | GRCh38 | 1 | 17,024,009 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 08aa096e382b90743302b85bac5c093df6a486da5533c1655af45a098b056675 | 569c22bd18392b2c023094630064eaed691f361e856501b5a399740ea095c065 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1512107-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>ACTATGTCCCAGCTGACATGTGTGTTAGTGGCACAGTTCTGATGATGCTTTTCATCAAGTCCCCAC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>ACTATGTCCCAGCTGACATGTGTGTTAGTGGCACAGTTCTGATGATGCTTTTCATCAAGTCCCCAC... | [
"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\nReference allele: T\nAlternate allele: C\nAlternate sequence context:\n<dna>ACTATGTCCCAGCTGACAT... | clinvar_variant_summary | 1512107 | 1455741 | GRCh38 | 9 | 127,661,104 | T | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 76b929e9f59d5f8b52e22845873336342611fb3075b6f1f2df8b82b8a7fde7fd | 67a5d3275d13b407bc5f0eb2f02d4ceb5b9aa78d51c2e0a5ea85ed178e962e85 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-527399-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>ATTTTCATTTAAAGCCTCAAATTCGCCAGTATCTAATATAAACCTAACATCATGACTGAGATCTCA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>ATTTTCATTTAAAGCCTCAAATTCGCCAGTATCTAATATAAACCTAACATCATGACTGAGATCTCA... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>ATTTTCATTTAAAGCCTCA... | clinvar_variant_summary | 527399 | 520938 | GRCh38 | 5 | 132,608,707 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 352e80d7e0cd01c32413d0acfc1d2a8c474d215e02e412389958273f27e0a687 | a50700e0698b32a61dedef9afe7fc5ae70f826f25d1735f3c037ac29e43e5a92 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1725229-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>GTAAAAGGTCCATAATTATATCATGTAGGCATAAATAGCAACCATTTAGGGCAGTGTTTCTTAAAA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>GTAAAAGGTCCATAATTATATCATGTAGGCATAAATAGCAACCATTTAGGGCAGTGTTTCTTAAAA... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>GTAAAAGGTCCATAATTAT... | clinvar_variant_summary | 1725229 | 1782756 | GRCh38 | 2 | 227,114,630 | G | A | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 667d9abb8b38a155274c469b2289629edf5395f3753d7b33fc0ce8e9d66e80c3 | 250cbcfb02cd1b3052cd4eb0f827c1e65e4973753a63c0d04f2bf66f25667ede | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1481429-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: G
Alternate sequence context:
<dna>TGTTTATTTCCTTAACAGTAGAAATTTTTAACAAAAGTCTTTTGATGTGTGACAGCAGTATTGTGA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: G
Alternate sequence context:
<dna>TGTTTATTTCCTTAACAGTAGAAATTTTTAACAAAAGTCTTTTGATGTGTGACAGCAGTATTGTGA... | [
"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\nReference allele: C\nAlternate allele: G\nAlternate sequence context:\n<dna>TGTTTATTTCCTTAACAGT... | clinvar_variant_summary | 1481429 | 1451867 | GRCh38 | 16 | 53,656,590 | C | G | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 6f2a19c1b9280fea5d65b4fcb7ef2a90fe5a7a438d76566c1923b08c69e92184 | 86a7b13b2743f7b0e700995ed6e10125bf237a9a810a4cb5fa031a5cf41dfc7c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1361077-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>GCACAGCAGAGCACATGGACCCTGGTTTCCAGCTGTTTCCAGCTTAGGTTCTGCCACCAACTAAGT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>GCACAGCAGAGCACATGGACCCTGGTTTCCAGCTGTTTCCAGCTTAGGTTCTGCCACCAACTAAGT... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>GCACAGCAGAGCACATGGA... | clinvar_variant_summary | 1361077 | 1383449 | GRCh38 | 5 | 13,811,685 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | f46984a6bdeea21bc130d55011c1efad60e3a06920d0b104be4864de7b9cfc2f | 400994eb85a874b55144e1ccb5bb2c7038b0c55eeb28759731bb642d87175edb | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1424932-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: C
Alternate sequence context:
<dna>TGGACCAAGGTCACTACCTTCTTGTTCTTTAATGCTTAAGGGTGTAGCTTTCTCTGGAAGAATAGG... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: C
Alternate sequence context:
<dna>TGGACCAAGGTCACTACCTTCTTGTTCTTTAATGCTTAAGGGTGTAGCTTTCTCTGGAAGAATAGG... | [
"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\nReference allele: A\nAlternate allele: C\nAlternate sequence context:\n<dna>TGGACCAAGGTCACTACCT... | clinvar_variant_summary | 1424932 | 1353439 | GRCh38 | 13 | 23,340,889 | A | C | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b8d82d198279ce87e1155c2e214a4067d1896aeb2e654cee2174479bbac3e9eb | 58742e8732ea3f024d149168e229eeab21b4b2ed0fe9ebc13bfd7c656d7ce5aa | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-347831-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: G
Alternate sequence context:
<dna>ACTAGTGAGAGATAGGGCAAATAGCTCCCTAAAGCTCTCTGCTCTGAGTTGCAGTCCTTTCAGAGT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: G
Alternate sequence context:
<dna>ACTAGTGAGAGATAGGGCAAATAGCTCCCTAAAGCTCTCTGCTCTGAGTTGCAGTCCTTTCAGAGT... | [
"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\nReference allele: A\nAlternate allele: G\nAlternate sequence context:\n<dna>ACTAGTGAGAGATAGGGCA... | clinvar_variant_summary | 347831 | 292514 | GRCh38 | 4 | 154,611,897 | A | G | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 34ad18211e745cb8779b01d3cca4704329097abc10b328381600680335952116 | 3eef4ed9a8e862f9543a15bc3e3be4903e404c5b20a3f30ad26650e8716761ef | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-829868-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GAGTGCTGGGAGGCGCGGGCCAGGGGACGGGGCGGGAGCTCGGGCCGCTTCTTCCAGCCGGGACCG... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GAGTGCTGGGAGGCGCGGGCCAGGGGACGGGGCGGGAGCTCGGGCCGCTTCTTCCAGCCGGGACCG... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>GAGTGCTGGGAGGCGCGGG... | clinvar_variant_summary | 829868 | 818248 | GRCh38 | 6 | 45,432,016 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 4a085562522cb8d9506f553dffc87a817c53535c27d56369996bae204df5a89b | 38f7f9d70c268df48a2677843cf32eb69e0656606924b20ea6a73b9a87549a9d | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-578474-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>GCTTTCTGTGAGGACAGGAGGTGGATGTAGTTCAGAGAGAGGAAGATTGGGCAGAGGTCAGAGGGA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>GCTTTCTGTGAGGACAGGAGGTGGATGTAGTTCAGAGAGAGGAAGATTGGGCAGAGGTCAGAGGGA... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>GCTTTCTGTGAGGACAGGA... | clinvar_variant_summary | 578474 | 565524 | GRCh38 | 11 | 117,392,628 | G | A | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 73fcce87e28ae6248e25f34faa6dfee659dd4e6c00182b7b9a5a789eb5fb9055 | b9103d4eabc550ab153ec0339b26977985a2fb1489cab7d136dfe0bc406a49a8 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-90193-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>AGGCTGAATAAAGTTCAGGTAAAAGTAAAATTAGTTGAGAAGAGACATCTGCCAAAAGAAATCTAT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>AGGCTGAATAAAGTTCAGGTAAAAGTAAAATTAGTTGAGAAGAGACATCTGCCAAAAGAAATCTAT... | [
"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\nReference allele: T\nAlternate allele: C\nAlternate sequence context:\n<dna>AGGCTGAATAAAGTTCAGG... | clinvar_variant_summary | 90193 | 95667 | GRCh38 | 3 | 37,004,476 | T | C | Likely pathogenic | reviewed by expert panel | 7 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 4ad1253a1e0cd4b99ec13f2729ff61db3b74f0db327e7c8ce4af42bf34244598 | d2f8de5d65bd1c886d21ede5a9a2629423e96288b9dbd05765979f94b038ca29 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-516039-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>CTTCAACCCAGACCTAAAATACCCTAAATTCCCTAAAATACCAAGCTCATAGTCAAGGCACTATTA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>CTTCAACCCAGACCTAAAATACCCTAAATTCCCTAAAATACCAAGCTCATAGTCAAGGCACTATTA... | [
"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\nReference allele: T\nAlternate allele: C\nAlternate sequence context:\n<dna>CTTCAACCCAGACCTAAAA... | clinvar_variant_summary | 516039 | 500335 | GRCh38 | 2 | 73,573,256 | T | C | Likely benign | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 46e816f030394fe7aca6ed7f583a4ba22f01c15f84a312459f751f0d017e0129 | 0aa8895eef8ca5b4d2e58d743db041c2934e356e726a4d071d6e8a3adb79339f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-387855-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>CTTGGGGAGGGCAGTGGAGGTGAGGGTGGGCTCCAGCGGGTGGGGGCCGGGCTGGCACAGCCTGGC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>CTTGGGGAGGGCAGTGGAGGTGAGGGTGGGCTCCAGCGGGTGGGGGCCGGGCTGGCACAGCCTGGC... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>CTTGGGGAGGGCAGTGGAG... | clinvar_variant_summary | 387855 | 377590 | GRCh38 | 19 | 35,039,214 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c293c0fa728103b2dbbe6dcb8f3c951446f8e0bff843fba674b39ac0627a1035 | c30bc5fe5b88349da8c75910eeb05bd946792f5f074273bb445fed26d11323ee | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-906048-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>AAGATGGGTAGACAACAAGGGATTAAAATAGTAAATTCAGGAGAAACTGTCCAGATGACCCAGACC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>AAGATGGGTAGACAACAAGGGATTAAAATAGTAAATTCAGGAGAAACTGTCCAGATGACCCAGACC... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>AAGATGGGTAGACAACAAG... | clinvar_variant_summary | 906048 | 892845 | GRCh38 | 5 | 128,334,783 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 4e206b8a920c601b15f49f59ea971ee375d498de234056f25bd5ae6354c537ca | bf89c2b2e0c996ebd7555cb3101a9ee812435f46cb545616181ca6c4c23e7838 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1346667-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GCTGGTCTCTGCCCTCTTGATTATGAGTTCCTTAAAGGCGGAGACCATCATTTTCAGTCTCTACCA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GCTGGTCTCTGCCCTCTTGATTATGAGTTCCTTAAAGGCGGAGACCATCATTTTCAGTCTCTACCA... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>GCTGGTCTCTGCCCTCTTG... | clinvar_variant_summary | 1346667 | 1456629 | GRCh38 | 18 | 46,569,441 | C | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0fa90ac9f44ecfa5d39b50c726b3380a7d6c546e178fd0824362fd9735f1af34 | e0a1fa5ace7eb3a2d04236c80bcdbd532908eb1dec58fe82f9184aca9cba62d4 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-713535-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: T
Alternate sequence context:
<dna>TTTTCAGAGGAAAAGACGTTTGGGGGGATGTCTGTGATGGGACTGAATATCTTCATTCCCCTCCGG... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: T
Alternate sequence context:
<dna>TTTTCAGAGGAAAAGACGTTTGGGGGGATGTCTGTGATGGGACTGAATATCTTCATTCCCCTCCGG... | [
"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\nReference allele: A\nAlternate allele: T\nAlternate sequence context:\n<dna>TTTTCAGAGGAAAAGACGT... | clinvar_variant_summary | 713535 | 731215 | GRCh38 | 18 | 35,070,330 | A | T | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d42f00eccd62e924b9b53e6d29cedbc1798fa83373ccf256c83c76533ced2b61 | dc551420e3c047afd2b5c4af84e5f203280af7d0bedc4fe8002494429b3a7969 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-807558-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>CTCTAAACACAGTGTCCACATGCCCTTCACAAATCACCAGTCACCCTGAGCAGTCAAACATTTTCT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>CTCTAAACACAGTGTCCACATGCCCTTCACAAATCACCAGTCACCCTGAGCAGTCAAACATTTTCT... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>CTCTAAACACAGTGTCCAC... | clinvar_variant_summary | 807558 | 798655 | GRCh38 | 12 | 47,975,606 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | edc7d70b8e1450e3858e895263938a40cfa9b00d06da2ae0bd32b655839aaaeb | dd974702587df029a9c59b5e5ac35c24f65d08f7ef139ef9b4a7ea3ce0a9b5c3 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-136653-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GGATTCAAAACCCAAATATCTGGCTCCAGAGTCTGTGCTTTTACAGGTTATGCTGTGTTGCCCTCT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GGATTCAAAACCCAAATATCTGGCTCCAGAGTCTGTGCTTTTACAGGTTATGCTGTGTTGCCCTCT... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>GGATTCAAAACCCAAATAT... | clinvar_variant_summary | 136653 | 140356 | GRCh38 | 2 | 151,860,808 | C | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | dd47eae1a8af3a688700c17672f92149b6d88762bcb91cf33510bc427c875603 | ad1c36731704ebf007bb6f1952a249a97fb4a66bae64b89085cf38b03e263981 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1254642-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>CACTTTGGCAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCAAACAT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>CACTTTGGCAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCAAACAT... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>CACTTTGGCAGGCTGAGGC... | clinvar_variant_summary | 1254642 | 1244575 | GRCh38 | 22 | 41,093,049 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c49bf8cfb55d33f288626294db5ce0b8bf901e68abf6c9d4e2afaedd47af1cf6 | 181955e12ad4eee8092bad87a6e05baaa4f810b10b41b463ee77a6850540889d | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2925594-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>CAGGCCTCTAAACCCAGGGCCAGGGCCCAGAAGACGGCTTCCAGCCAGCACATCTGCCTTCTCCCG... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>CAGGCCTCTAAACCCAGGGCCAGGGCCCAGAAGACGGCTTCCAGCCAGCACATCTGCCTTCTCCCG... | [
"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\nReference allele: T\nAlternate allele: C\nAlternate sequence context:\n<dna>CAGGCCTCTAAACCCAGGG... | clinvar_variant_summary | 2925594 | 3086474 | GRCh38 | 17 | 3,656,542 | T | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 8fb7c2adb7c5ddfe5c654822120dc0ee0ba507575025ee7d95c25ffc778dca83 | c669df18e4504d29e7814172e04e713fb81ec4f9d28f40fe6cf892ae2119c4b3 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1474620-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>ACCATGCTAATCTTCTCTGTATTGTTCCAATTTTAGAATATGCACTGCCAAAGGGAACACTCCCAC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>ACCATGCTAATCTTCTCTGTATTGTTCCAATTTTAGAATATGCACTGCCAAAGGGAACACTCCCAC... | [
"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\nReference allele: T\nAlternate allele: C\nAlternate sequence context:\n<dna>ACCATGCTAATCTTCTCTG... | clinvar_variant_summary | 1474620 | 1503707 | GRCh38 | 16 | 71,571,660 | T | C | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1e616272fb37fc90e0ba346bda82aa08e274a8085b49590e2debe147fef4650a | 6f6c613af7ee159a2d03b2cd6d13ab19ce7383d7bbac847ff24fdf0052a5511c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1325301-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>CTGATTCACCAGCTGCATTGACTGCTAACACTCTAAACTTATAGGTTTGACCGTCCCGAAGACCGG... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>CTGATTCACCAGCTGCATTGACTGCTAACACTCTAAACTTATAGGTTTGACCGTCCCGAAGACCGG... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>CTGATTCACCAGCTGCATT... | clinvar_variant_summary | 1325301 | 1315559 | GRCh38 | 2 | 178,601,011 | C | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0a43af246b16a237ccd0a678f957d5d338f96326351f59b6d50629f2538ecea6 | 760a8a30e09033d0ba1d08fa947a7f55e7312644478cc280eadd7b8c2c9499ae | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1134339-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>ACGAGGTCAGGAGATCGAGACCATCCTGGCCAAAATGGTGAAACCCCGTTTCTATTAAAAAATACA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>ACGAGGTCAGGAGATCGAGACCATCCTGGCCAAAATGGTGAAACCCCGTTTCTATTAAAAAATACA... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>ACGAGGTCAGGAGATCGAG... | clinvar_variant_summary | 1134339 | 1111461 | GRCh38 | 2 | 165,992,073 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 28703633d2152dcdba34121f599e6b0cf7a1789c972c2740aa20be2b79c36d70 | 043fff7af2fbd814f44c894d9cb5e686c3d8922779b2a8da2608e25d0d0fe218 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-257980-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>AGAGGTTCCTCCTCCGGGTTTTCCTTATCAAACCAAATTTTCCACATTTTCTCATTTCTCGATATC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>AGAGGTTCCTCCTCCGGGTTTTCCTTATCAAACCAAATTTTCCACATTTTCTCATTTCTCGATATC... | [
"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\nReference allele: T\nAlternate allele: C\nAlternate sequence context:\n<dna>AGAGGTTCCTCCTCCGGGT... | clinvar_variant_summary | 257980 | 251692 | GRCh38 | 5 | 13,735,783 | T | C | Benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 93f2246108d8d8d6320253bbfc3e2b7c9e5b336660c96dd85a8682aec12640f8 | 6f62b9fd4a89aa45b8b2d04e3b33b127bc95c844a923f4b1330d302e9de56092 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2758378-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: C
Alternate sequence context:
<dna>GAATCTATCATTTTCTTTGGATCTTGGCTTACGTCGTTAAATAAGGGTTTGTGGTCTTCTGCATAC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: C
Alternate sequence context:
<dna>GAATCTATCATTTTCTTTGGATCTTGGCTTACGTCGTTAAATAAGGGTTTGTGGTCTTCTGCATAC... | [
"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\nReference allele: A\nAlternate allele: C\nAlternate sequence context:\n<dna>GAATCTATCATTTTCTTTG... | clinvar_variant_summary | 2758378 | 2910477 | GRCh38 | 17 | 7,670,678 | A | C | Likely pathogenic | reviewed by expert panel | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 62eb11af006b3099315ac3b72c7bcd3c491d68522e87e40b99eafce77e344c46 | 951d9e8ca79f3d0be6d1cae67ada14fa42f5f095c17aacd612f043bd271e5edd | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-460068-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>TGGATTAATCTGGAGTTCACGTAGCCCATAGCACCCAGGACCGATGGCTTCAGTGCTACCTCCTGA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>TGGATTAATCTGGAGTTCACGTAGCCCATAGCACCCAGGACCGATGGCTTCAGTGCTACCTCCTGA... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>TGGATTAATCTGGAGTTCA... | clinvar_variant_summary | 460068 | 465547 | GRCh38 | 16 | 1,206,104 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e53f563e50706e75c598a3669e39d75d6081dff4fcb4fc1cbf4decd8adefa5f5 | 450345cfc2a5fbeec3f6d5576f70bd2efc3f229262aa5fe670e904d4df90f027 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-232119-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>TTCTTTCTTCATTCTAGATACAAGTCCTTTGTTGAATACATGGCTTGTAACTATGTTTCCCATTCT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>TTCTTTCTTCATTCTAGATACAAGTCCTTTGTTGAATACATGGCTTGTAACTATGTTTCCCATTCT... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>TTCTTTCTTCATTCTAGAT... | clinvar_variant_summary | 232119 | 235901 | GRCh38 | 17 | 35,118,509 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 5673a174c1af736dccf567779bd0a5e59a4fb156852e108ee3cda72c4b46657a | b9bf4639730092b288e776c1ee8f58fe2f7bc789f726f563a76e024ff318b32e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1900979-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: G
Alternate sequence context:
<dna>CTCTGCCTCCTAGGCTGAAGCGATTCTCCTGCCTCAGCCTCCTGAAAAGCTGGGGGTACAGGCGCG... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: G
Alternate sequence context:
<dna>CTCTGCCTCCTAGGCTGAAGCGATTCTCCTGCCTCAGCCTCCTGAAAAGCTGGGGGTACAGGCGCG... | [
"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\nReference allele: C\nAlternate allele: G\nAlternate sequence context:\n<dna>CTCTGCCTCCTAGGCTGAA... | clinvar_variant_summary | 1900979 | 1963809 | GRCh38 | 15 | 91,001,482 | C | G | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1066b4f281478dd6ba57bcf73a6ab980c11118e0795ab412a79bb011d85e62da | e31ad079d926b5ea7471a0e48a4e0c9ae0a25b9eb639c9bbb985b591bebcda63 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1521022-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: T
Alternate sequence context:
<dna>TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTCTTTCTTTTTGTAGAGGT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: T
Alternate sequence context:
<dna>TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTCTTTCTTTTTGTAGAGGT... | [
"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\nReference allele: A\nAlternate allele: T\nAlternate sequence context:\n<dna>TCCTTCCTTCCTTCCTTCC... | clinvar_variant_summary | 1521022 | 1446675 | GRCh38 | 5 | 71,626,706 | A | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 9f3bb237c5b983bfe834d80eca1157f8b441483d86148f5a958e83fa879103d0 | d181aab771a4bbce07d545c837d7a5493dcb1b2bd4b9243782dac4d9cb58cf10 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2202964-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GTCACTGTGGGACCTATAGCAACTTTGTTCAGATGATTTTTTGCCTATTTAATTTCTTTCCTTGCA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GTCACTGTGGGACCTATAGCAACTTTGTTCAGATGATTTTTTGCCTATTTAATTTCTTTCCTTGCA... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>GTCACTGTGGGACCTATAG... | clinvar_variant_summary | 2202964 | 1925194 | GRCh38 | 1 | 216,190,368 | C | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e3201a8e7cb1e21a1dc41c187c3ec469a4356bc25c2f591a94fe463732a4b242 | d4747bc0c06938325530939afacd9f2e1e12a5aab9a399785c0e7c9d032b8c64 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1067703-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: G
Alternate sequence context:
<dna>TCACTCAAGGGCTCTTGCTTTACTAATACTTCATATACACTATGATTTCACCTATTGGGCTCCCTG... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: G
Alternate sequence context:
<dna>TCACTCAAGGGCTCTTGCTTTACTAATACTTCATATACACTATGATTTCACCTATTGGGCTCCCTG... | [
"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\nReference allele: A\nAlternate allele: G\nAlternate sequence context:\n<dna>TCACTCAAGGGCTCTTGCT... | clinvar_variant_summary | 1067703 | 1054767 | GRCh38 | 1 | 197,328,420 | A | G | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c9935384669d4d8980e5a5298532d77ae5919f90adbb0ef0ec4a93c40de5a5c3 | 749e2a2f0efaec9cac22cfc08e83c621ae3a4033d5bbba382b10bba79e9a775b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1201751-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: T
Alternate sequence context:
<dna>GAGGGTCCAACAGACACTCAGCTTTGAATCCCCACTCTGCTGTGTGACCTTGGGTGAGTCACTTCA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: T
Alternate sequence context:
<dna>GAGGGTCCAACAGACACTCAGCTTTGAATCCCCACTCTGCTGTGTGACCTTGGGTGAGTCACTTCA... | [
"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\nReference allele: G\nAlternate allele: T\nAlternate sequence context:\n<dna>GAGGGTCCAACAGACACTC... | clinvar_variant_summary | 1201751 | 1190868 | GRCh38 | 9 | 128,224,482 | G | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 60ce31595d4f13de70116b772c611623804aed65a4ee5c959882391ffaf83c4e | 5ac2970de1a0f92d920cc9a0a0c6ca37a305f16e6d29677c42117c96ed63ea23 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-188879-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>AAAGAGGAGAATCAAAATCATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>AAAGAGGAGAATCAAAATCATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCA... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>AAAGAGGAGAATCAAAATC... | clinvar_variant_summary | 188879 | 186898 | GRCh38 | 13 | 51,950,328 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 12 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | bc72d544f93f3f56e09dc1160fdf2b04b606d12333d1bf957acd2213f6887d94 | 241f6c3af4d5fef0d8108570e7310294f70c016accdfd79ee2d14163d4d42882 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2673834-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: T
Alternate sequence context:
<dna>CACCACACCCAGCTAATTTTTGTATTTTTAGTAGACACGGGGTACACCATGTCGGCCAGGCTGGTC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: T
Alternate sequence context:
<dna>CACCACACCCAGCTAATTTTTGTATTTTTAGTAGACACGGGGTACACCATGTCGGCCAGGCTGGTC... | [
"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\nReference allele: A\nAlternate allele: T\nAlternate sequence context:\n<dna>CACCACACCCAGCTAATTT... | clinvar_variant_summary | 2673834 | 2836339 | GRCh38 | 16 | 23,624,007 | A | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 79410cb3892950dddf2692f1c348d437c7a6a7f648d98d622268748f9820f576 | 19eccbb9713e85f66f82bffbfee242be21c4429c0ba909b1f30d4f5f426838df | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-384908-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>TTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>TTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGA... | [
"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\nReference allele: T\nAlternate allele: C\nAlternate sequence context:\n<dna>TTGATGAGCAGCAGCGAAA... | clinvar_variant_summary | 384908 | 376560 | GRCh38 | 15 | 66,443,262 | T | C | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 5cb90b25e82d912f5995e1e3384879590a94936d22e0c5eadb28a0b4c9c9d2c8 | cebc119da1382bfc38849d80e9533e0a6c61cc8d9f0ac71cf68b7d32170a441c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1289199-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: T
Alternate sequence context:
<dna>GCAGAGACAATCTTTTGTGTGCCACCCAAGCCCAGCACTTCTTAGGTACTTGTTAAATACAACTAA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: T
Alternate sequence context:
<dna>GCAGAGACAATCTTTTGTGTGCCACCCAAGCCCAGCACTTCTTAGGTACTTGTTAAATACAACTAA... | [
"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\nReference allele: G\nAlternate allele: T\nAlternate sequence context:\n<dna>GCAGAGACAATCTTTTGTG... | clinvar_variant_summary | 1289199 | 1279030 | GRCh38 | 13 | 27,622,067 | G | T | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 32a12f3dc66aa29b65f2c0557c4d34ee42c26179150a55e14914079fe047be3d | 2a54f1b93d28b150e7b58eb160ff3a599ec8003571bd0c6ee96fefe50a74ed52 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2664877-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: G
Alternate sequence context:
<dna>TCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: G
Alternate sequence context:
<dna>TCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCA... | [
"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\nReference allele: C\nAlternate allele: G\nAlternate sequence context:\n<dna>TCCAAGCTCAAGCCAGAGA... | clinvar_variant_summary | 2664877 | 2832446 | GRCh38 | 1 | 21,577,401 | C | G | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b0dbc39d9e2dee28cddf691d11997d6ffc7b05024e943a5d133f621e6468f7d9 | 8e5916af04e02f6dd882aad5a2aad09fcb8aa12bd471672e4343a4931e7b3b91 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1937852-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>ACCACTATCCTCCTAAGAAAATATTCTCTTGAGTTATATATCCATCAGTAATGGATTTTCTGAAAT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>ACCACTATCCTCCTAAGAAAATATTCTCTTGAGTTATATATCCATCAGTAATGGATTTTCTGAAAT... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>ACCACTATCCTCCTAAGAA... | clinvar_variant_summary | 1937852 | 1996726 | GRCh38 | 6 | 109,785,029 | G | A | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 60d1efab2fa42ee6b68a7266ab33b38e6a9797a046d74adc3f9faaaa02a50238 | 422f26ae3066fdef14a99336a8cd640500943c1a47de5099849933580ea61280 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1203798-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>CAGCTGCTGCCAGGCGGCCTTCAGAGTGATGGCTGCGTGCTGGCCATGAGCCTCAGCTGGCTCAAT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>CAGCTGCTGCCAGGCGGCCTTCAGAGTGATGGCTGCGTGCTGGCCATGAGCCTCAGCTGGCTCAAT... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>CAGCTGCTGCCAGGCGGCC... | clinvar_variant_summary | 1203798 | 1195040 | GRCh38 | 16 | 2,175,880 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c3c97672f156efcb6b057709fd1f8b5d40d4e6454284c1fef2b678ec491107ca | e7dd195e204eef5caf8638f65c96b37aaf8656709090079ef6952c13d30c8a38 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2054966-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>ATACACACTGTATTAGTTTTCTGTTGCTGCTGTAACAAATTACCACAAACTTGGTGGCTTAAAACA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>ATACACACTGTATTAGTTTTCTGTTGCTGCTGTAACAAATTACCACAAACTTGGTGGCTTAAAACA... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>ATACACACTGTATTAGTTT... | clinvar_variant_summary | 2054966 | 2108967 | GRCh38 | 15 | 80,172,243 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 7fa96460068e5de74449de01931f6636e02d4bc6d8fe64c995a73d5bf851b03e | 6a13335f9b49e83906d8596e71fe32605776801e322c12bd8c26652c67dbf1e6 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-3920040-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>GGGAGTTCAAGACCAATCTGGCAACATAGGGAAAACCCACCTCTACACACACACACACACACACAC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>GGGAGTTCAAGACCAATCTGGCAACATAGGGAAAACCCACCTCTACACACACACACACACACACAC... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>GGGAGTTCAAGACCAATCT... | clinvar_variant_summary | 3920040 | 4037948 | GRCh38 | 5 | 173,233,069 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 331d93107d27d853099e571a6aa9ca229122b1465f0afbbc1f19ba1cd46a3ab3 | b3032d6a7a1b22dc61ad737f589fa9a6d1cf19a22ee3d954562dad061f959133 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-419409-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: G
Alternate sequence context:
<dna>GTCCACTGGGGCAGGTTGCCTTCCACTGGGAGCTCAGCTTCCTTAGAGCATGGCGGCTGGATTCGA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: G
Alternate sequence context:
<dna>GTCCACTGGGGCAGGTTGCCTTCCACTGGGAGCTCAGCTTCCTTAGAGCATGGCGGCTGGATTCGA... | [
"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\nReference allele: A\nAlternate allele: G\nAlternate sequence context:\n<dna>GTCCACTGGGGCAGGTTGC... | clinvar_variant_summary | 419409 | 408349 | GRCh38 | 11 | 44,114,183 | A | G | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | fb45e8df610e7f95ed44304f534da9676da1624b49dad4a3ec18d419a863a520 | c0f448a8991dc98a088a258602b68dca3c883e582467a3c2f7ffd2f01ab96db8 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-3450937-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: G
Alternate sequence context:
<dna>TATTTTGTGGTCCTATTTTTCTTTTGCTATCTGTGGATACGAATGCAAGTTTTGTATCCACATCAG... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: G
Alternate sequence context:
<dna>TATTTTGTGGTCCTATTTTTCTTTTGCTATCTGTGGATACGAATGCAAGTTTTGTATCCACATCAG... | [
"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\nReference allele: T\nAlternate allele: G\nAlternate sequence context:\n<dna>TATTTTGTGGTCCTATTTT... | clinvar_variant_summary | 3450937 | 3615149 | GRCh38 | 11 | 108,279,610 | T | G | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | de87d97888b1f77e7d94c45ccabc7d27d9b3e3242784715913d17bfc1870fbb9 | 193f31658afa562bab2073b9aa4e0efd3feb1ac302fe47ff10435ac66ba9658d | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-261980-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>CTGGAACAGAGACTTAATGTAAAAAAGCAAAATATACAAGTACTAAAGGAAAACAGATGAATTACT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>CTGGAACAGAGACTTAATGTAAAAAAGCAAAATATACAAGTACTAAAGGAAAACAGATGAATTACT... | [
"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\nReference allele: T\nAlternate allele: C\nAlternate sequence context:\n<dna>CTGGAACAGAGACTTAATG... | clinvar_variant_summary | 261980 | 255822 | GRCh38 | 16 | 56,498,434 | T | C | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 11 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c4d1be9762b8aecb3164926d27ee8db907a1df26bf198e6eb8602e6771f79203 | 7f3af95d73d761e4925d524ee75616be8aacf50eb470c3a4b399a8c7204b05b6 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1743104-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: G
Alternate sequence context:
<dna>TTCTCTGTTAGCATTAGCAGGGTTTAATATTAACAGTAAGTATGTCCATGATGCTTTAAATACAGA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: G
Alternate sequence context:
<dna>TTCTCTGTTAGCATTAGCAGGGTTTAATATTAACAGTAAGTATGTCCATGATGCTTTAAATACAGA... | [
"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\nReference allele: T\nAlternate allele: G\nAlternate sequence context:\n<dna>TTCTCTGTTAGCATTAGCA... | clinvar_variant_summary | 1743104 | 1805252 | GRCh38 | 17 | 31,163,378 | T | G | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 7f39c9b0a2824220b066f4b24106c0b8831ebf073603bbc21813109c73c16ccc | 3fc2283ab663ca82e42e4c9417fc4e4836812694b74a3af199199348b4262957 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-263092-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>TTTTTTTTTTTTTTTGAGATAGTCTTGCTCTATTACCCAGGCTGGTGTGCAGTCGTGCAATACTGG... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>TTTTTTTTTTTTTTTGAGATAGTCTTGCTCTATTACCCAGGCTGGTGTGCAGTCGTGCAATACTGG... | [
"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\nReference allele: T\nAlternate allele: C\nAlternate sequence context:\n<dna>TTTTTTTTTTTTTTTGAGA... | clinvar_variant_summary | 263092 | 252966 | GRCh38 | 7 | 92,226,577 | T | C | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 11 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d980f0b786cb495592057fb469c806332784362b7ab022185f769bad079083d7 | 580827bd1b2610fb026c1ea385694ab382979d3da47317017a22e73433b33856 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-378712-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: C
Alternate sequence context:
<dna>ACATTAAGGCTTCCAAAAACACTTTTCCTAGTAAAAGCTGATTCATTGGTTATTCTCTGTTTTACA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: C
Alternate sequence context:
<dna>ACATTAAGGCTTCCAAAAACACTTTTCCTAGTAAAAGCTGATTCATTGGTTATTCTCTGTTTTACA... | [
"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\nReference allele: G\nAlternate allele: C\nAlternate sequence context:\n<dna>ACATTAAGGCTTCCAAAAA... | clinvar_variant_summary | 378712 | 376019 | GRCh38 | 18 | 55,464,060 | G | C | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e1abe2d8bf41c8aaaca557a179a915a8a29244c7869f24c58ce7dcbb630b7e12 | 9efc7972bb372370c9e45536c21e3880dbc7a87bf5009d9de93247715ad4e52d | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1325436-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: C
Alternate sequence context:
<dna>TAAATCTTTTCATATTAGGACATAAAAAGGACTCTCAAAGTGTTATTTCAAGTGAAGGAGGGAAAA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: C
Alternate sequence context:
<dna>TAAATCTTTTCATATTAGGACATAAAAAGGACTCTCAAAGTGTTATTTCAAGTGAAGGAGGGAAAA... | [
"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\nReference allele: A\nAlternate allele: C\nAlternate sequence context:\n<dna>TAAATCTTTTCATATTAGG... | clinvar_variant_summary | 1325436 | 1315692 | GRCh38 | 15 | 48,437,320 | A | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 8c0be50fdb64c2392ada4c94c772d015d27089e9c8708b76f0fd3a704042220b | e377323409562590e47a08e5c44924eedd50239cb2f9a52ea935572c00ab1839 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1662042-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>CCTGCCTCAGTTTTCCAAGGAGCTGGGATTACAGGCGCACATCCATCACACCTGGCTAATTTTTTG... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>CCTGCCTCAGTTTTCCAAGGAGCTGGGATTACAGGCGCACATCCATCACACCTGGCTAATTTTTTG... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>CCTGCCTCAGTTTTCCAAG... | clinvar_variant_summary | 1662042 | 1576924 | GRCh38 | 9 | 26,926,412 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 636e68649063d99eccab37f1437c03969c86ed1089df3e0a455319e9782c7736 | 029f9ad9e84480fc5a03f41b888550e69a66dab4820a338021e38bf518430787 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1332831-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GCCTTTTGCTTTGTGATGTGAAAATACTGTGATTTGACGAGCCGCTTCCTGAGGGGCAGGCCCACG... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GCCTTTTGCTTTGTGATGTGAAAATACTGTGATTTGACGAGCCGCTTCCTGAGGGGCAGGCCCACG... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>GCCTTTTGCTTTGTGATGT... | clinvar_variant_summary | 1332831 | 1323549 | GRCh38 | 19 | 18,788,262 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 86156d8793a47633611597969b46fe2516ae0f323dc2583097ce0ca86c353b49 | b8db6eec7a74f7dd2fe5b72e40bf83289b9257abc2d2935db74539feb4cf5b50 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2671896-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>CGACTTCCCTAGAATCTCACCCAAGCGAGATTGACCCCGTTGATCGGCATCTGTTACATGCGCCCC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>CGACTTCCCTAGAATCTCACCCAAGCGAGATTGACCCCGTTGATCGGCATCTGTTACATGCGCCCC... | [
"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\nReference allele: T\nAlternate allele: C\nAlternate sequence context:\n<dna>CGACTTCCCTAGAATCTCA... | clinvar_variant_summary | 2671896 | 2839423 | GRCh38 | 17 | 7,221,972 | T | C | Likely pathogenic | reviewed by expert panel | 1 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 60dbb731a8eb6a5a4a933aea9d0763c728dd894048159b32fdbbc6107007ebf1 | 6e1d25ed5b0c2d2d7df445d804d108fd45001bf118968153f4ce6dba3b546af2 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2185614-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: G
Alternate sequence context:
<dna>TTTTGATACTTAAATAAGACATTTGTTGTTGGCAAATATTTTATTGATCAGTCTAATTTGCTTGAT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: G
Alternate sequence context:
<dna>TTTTGATACTTAAATAAGACATTTGTTGTTGGCAAATATTTTATTGATCAGTCTAATTTGCTTGAT... | [
"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\nReference allele: A\nAlternate allele: G\nAlternate sequence context:\n<dna>TTTTGATACTTAAATAAGA... | clinvar_variant_summary | 2185614 | 1910548 | GRCh38 | 1 | 61,277,530 | A | G | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3ad358380ffc9ee3446a987551e71f78f1f26441649b62844096076af5a55897 | 9fcebc411576adf6e4ee9e1e3f6f202d2ea29f73770647487628e8a38ea0faf3 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1103461-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: G
Alternate sequence context:
<dna>GCATGAGCCACTGCACCCAGCCAACATTGTCTGCCCTGTTCTTTTAAGAATAAATTGATACATTTT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: G
Alternate sequence context:
<dna>GCATGAGCCACTGCACCCAGCCAACATTGTCTGCCCTGTTCTTTTAAGAATAAATTGATACATTTT... | [
"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\nReference allele: A\nAlternate allele: G\nAlternate sequence context:\n<dna>GCATGAGCCACTGCACCCA... | clinvar_variant_summary | 1103461 | 1093616 | GRCh38 | 5 | 112,792,537 | A | G | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 5c8ee158a5825d373ea3db688e0ff7f8db42d0e686aa62e1b290faf55e7bf84a | a4a242d9d4347c1c4e7f90d7f187a25f62a136396a4f76159dfe4a51873a0956 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2736041-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: G
Alternate sequence context:
<dna>AGCCAGTTGCCCATCCTGTAGCCACAGTCCCACAGAGGACAAACACGGCTGAGGGCCACAGTCCTT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: G
Alternate sequence context:
<dna>AGCCAGTTGCCCATCCTGTAGCCACAGTCCCACAGAGGACAAACACGGCTGAGGGCCACAGTCCTT... | [
"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\nReference allele: C\nAlternate allele: G\nAlternate sequence context:\n<dna>AGCCAGTTGCCCATCCTGT... | clinvar_variant_summary | 2736041 | 2899033 | GRCh38 | 13 | 51,944,230 | C | G | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 9e0d23fe2234399d6e777bea7742ed4d6b63a33de10df81dece10c918787fe12 | 410a5e648e4bf6bc7a79b2b1e7716bb4f3d7c902167aa7279a3bfc947cef18b4 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-553132-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>TTGCATTAGACAGCTAACCAAAAACCTGATTTTTTTATAGCTTCTCAAGTTGTAGGAATTTCTATT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>TTGCATTAGACAGCTAACCAAAAACCTGATTTTTTTATAGCTTCTCAAGTTGTAGGAATTTCTATT... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>TTGCATTAGACAGCTAACC... | clinvar_variant_summary | 553132 | 544849 | GRCh38 | 8 | 99,507,798 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3b44840fbaf14a122c35ebf99159c1108b31ba2f1037e7931c75f429c00edec3 | 9e976375d260294f4735c34d4c48e182cbeeda12bdf76f11b45bdfaa5624d349 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-419135-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GGATAACACTGCAGACTCTTTGGTTACATCTTGCACAGTAATGTTGGTTGGAGGACCTGGGGTATC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GGATAACACTGCAGACTCTTTGGTTACATCTTGCACAGTAATGTTGGTTGGAGGACCTGGGGTATC... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>GGATAACACTGCAGACTCT... | clinvar_variant_summary | 419135 | 405451 | GRCh38 | 2 | 178,567,728 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 5f0d70c69f35c8a525fd3e571df0bc0c361737bb049d08cc88dba6877754a081 | 46c51fd62c4f5a1c6f391acdff79afe09b9d8221e6a17e36f6a5f56193649eb1 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-712916-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>GAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAACCTCGA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>GAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAACCTCGA... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>GAGATTAAGGATGATTGTG... | clinvar_variant_summary | 712916 | 722428 | GRCh38 | 7 | 158,923,627 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b0c012b2f53edfd16734e8f94ee1ebcb7939dd4c3225dac4cf990e57e416ffe2 | 3c7e01b252ad1078c0c8ced3a1a4962ebb131737039c6ba2e4557ef67c3c8c1c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-92043-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>AGCCCCTCCGCCCAGCAGCCGCCCGTCTGTGAAGTGAGGAGCCCCTCCGCCCAGCAGCTGCCCCGT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>AGCCCCTCCGCCCAGCAGCCGCCCGTCTGTGAAGTGAGGAGCCCCTCCGCCCAGCAGCTGCCCCGT... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>AGCCCCTCCGCCCAGCAGC... | clinvar_variant_summary | 92043 | 97521 | GRCh38 | X | 72,567,970 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 8 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 6fb82045cae86acaca2a4b0966a2eaadc08de02ec481386efd99b7ab80bf68ca | fc4d9df4462681d81ee98457a024f733a9161dea4c7ac06941ba272bb1bc4b84 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1524411-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: C
Alternate sequence context:
<dna>CTCCTGACTTTGTGATCTGCCCAACTCGGCCTCCCAAAGTGCTGGGATTATAGGCGCAAGCCATCA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: C
Alternate sequence context:
<dna>CTCCTGACTTTGTGATCTGCCCAACTCGGCCTCCCAAAGTGCTGGGATTATAGGCGCAAGCCATCA... | [
"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\nReference allele: G\nAlternate allele: C\nAlternate sequence context:\n<dna>CTCCTGACTTTGTGATCTG... | clinvar_variant_summary | 1524411 | 1462886 | GRCh38 | 5 | 112,837,552 | G | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ee0eb22b683f0f1e644bb081254071d5578a9e1af8c594c05ba61601fe9bcd91 | e74081a174f7e33faf72cc4d7d36f8ee5403227367e068dcad1c35ea4f7f6855 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-378325-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>ATTTACAAAGGAGAGAAAAGGATGGGAAGATGGCAGCTGTCATATTTTATTTCATTTTTTTAGAAT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>ATTTACAAAGGAGAGAAAAGGATGGGAAGATGGCAGCTGTCATATTTTATTTCATTTTTTTAGAAT... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>ATTTACAAAGGAGAGAAAA... | clinvar_variant_summary | 378325 | 379877 | GRCh38 | X | 100,402,782 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 62958e72ce8f9ed2c6c1edcc860c2fd36988099a5a60c19c0fb3d97655c7148a | 63a91993d29a012df6fcfe3bcb4e00662f7048571db89c2186d51727b20e0687 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1321668-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>ATTGGAATGATGAGACGTTACTATCTATAGGAATGCAAAGTCCCTTCTGACTGAGTCCAGTGATTC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>ATTGGAATGATGAGACGTTACTATCTATAGGAATGCAAAGTCCCTTCTGACTGAGTCCAGTGATTC... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>ATTGGAATGATGAGACGTT... | clinvar_variant_summary | 1321668 | 1311950 | GRCh38 | 21 | 37,715,196 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 02a2b0397fa2a041409a45057c1b1f4cf81132b9cf967476d8c56127641006e0 | d51db356ec5e2f3465effb0efc6b5abda62da9c7efd129834dba4630bb9b4cee | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1285578-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>GGTCACTGAGAAAGCAGCTGAGAATGGGCTTGAAGATATGACGGCAGGCCTGGAATTGGGGATGGA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: T
Alternate allele: C
Alternate sequence context:
<dna>GGTCACTGAGAAAGCAGCTGAGAATGGGCTTGAAGATATGACGGCAGGCCTGGAATTGGGGATGGA... | [
"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\nReference allele: T\nAlternate allele: C\nAlternate sequence context:\n<dna>GGTCACTGAGAAAGCAGCT... | clinvar_variant_summary | 1285578 | 1275420 | GRCh38 | 12 | 51,789,390 | T | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 2a75cb1464882a011917a513a07ac7915809ae1f5b9c4779e8e235a31da9c25b | 3f8f894983846d43269e6e65ce38d72e9a358485b3c274ac76b97be432abcec3 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-375357-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: G
Alternate sequence context:
<dna>CCCAGGGGCTGAAGGATGGTGTTGAAGGACCGAGTTTTACTCAGATCCTTCTCAGCCCTGCCTTCC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: G
Alternate sequence context:
<dna>CCCAGGGGCTGAAGGATGGTGTTGAAGGACCGAGTTTTACTCAGATCCTTCTCAGCCCTGCCTTCC... | [
"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\nReference allele: C\nAlternate allele: G\nAlternate sequence context:\n<dna>CCCAGGGGCTGAAGGATGG... | clinvar_variant_summary | 375357 | 362123 | GRCh38 | 15 | 72,350,518 | C | G | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | be5d2c6c41c7b5f82608e9a80c9cc33ee333caa364c8d3ebf6fa5827cf991a49 | 0ce6d97dab583b91d1238879ddb819ac5c3919c497b0e1a3bead05d8f670c9bc | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-772215-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>CCAGTTCCCTGGCCTTCTGCCCAGGCAGCCACAGTGATTCCAGGAGCCTAGGTAGCATCCGAAGAG... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>CCAGTTCCCTGGCCTTCTGCCCAGGCAGCCACAGTGATTCCAGGAGCCTAGGTAGCATCCGAAGAG... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>CCAGTTCCCTGGCCTTCTG... | clinvar_variant_summary | 772215 | 701356 | GRCh38 | 10 | 47,322,741 | C | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b7fe39ca9f05caa72a95ade1d799f02431f61376ece08468aa40b826c58b8066 | 8c2013e25f852b46eb04ecc7062d460054702a3a3e27df3803c4a4ac5231eb40 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-552261-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GAGGGAAGGTGTTCAGGAAAGGTCCCTCCCCAAGGAGATTGATGCCTGGCCTGAGTCTTGAAAGAC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GAGGGAAGGTGTTCAGGAAAGGTCCCTCCCCAAGGAGATTGATGCCTGGCCTGAGTCTTGAAAGAC... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>GAGGGAAGGTGTTCAGGAA... | clinvar_variant_summary | 552261 | 542170 | GRCh38 | 2 | 227,308,982 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 5db725f1685a43a89c44355da64c005aa3e8743638af6f2859e5e675e60ab6ea | 3050baf0af367648c05371b37a8434948c31e2e8260392a9b02b8dccb53c3e8b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-841749-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GACTCCACCTGCAGGTTCATCCTCCTGGGGGGCAGTCATTTCCCAGTCCATCTTGGCCCATCTTCT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>GACTCCACCTGCAGGTTCATCCTCCTGGGGGGCAGTCATTTCCCAGTCCATCTTGGCCCATCTTCT... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>GACTCCACCTGCAGGTTCA... | clinvar_variant_summary | 841749 | 825747 | GRCh38 | 2 | 218,892,831 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 286581a065965bb7caf3fa8c57bd092cb07d642ef7894777d4fd5ba7eda62006 | 878e56ff3d4f6a61b5f6e88df475457afe7261a9f9da1416d0a2f59ea6f4c943 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-194680-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: C
Alternate sequence context:
<dna>CATTTCTTTCAATATTCTTCTTATTATATATTAGCCAGGATGTTTTTAAAAATAGCAACAGTCTGT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: C
Alternate sequence context:
<dna>CATTTCTTTCAATATTCTTCTTATTATATATTAGCCAGGATGTTTTTAAAAATAGCAACAGTCTGT... | [
"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\nReference allele: G\nAlternate allele: C\nAlternate sequence context:\n<dna>CATTTCTTTCAATATTCTT... | clinvar_variant_summary | 194680 | 191843 | GRCh38 | 9 | 14,816,831 | G | C | Benign | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1ef1e808dc6e96d5de87e7734751079a2d85a1d3b7756150647e4c7ac1cbc001 | acaba58ac1afa980ba76ed70f735ef9961dec408ac5b1cd8718c849753b4c9bf | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-139123-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>ATCAACAACAAGAGGAATTTTGGAAACCATAGAAACACATGGAAATTAAACAATATGCCCCTGAAT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>ATCAACAACAAGAGGAATTTTGGAAACCATAGAAACACATGGAAATTAAACAATATGCCCCTGAAT... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>ATCAACAACAAGAGGAATT... | clinvar_variant_summary | 139123 | 142826 | GRCh38 | 2 | 227,699,294 | C | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 14 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 24ea519b830d7f25d60320919376d3fdc902cbc266ba8f044b98131ca814ae44 | 7ea33956f6a42ade4bea4cad144f9a724407b74b85ac83429f89a9c841a3938b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-746987-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: C
Alternate sequence context:
<dna>TTGAATTATTTTCCTGTTGCTGTTGTAACAAATTACCACAAACGTAGTGGCTTAAAACAACACAAA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: C
Alternate sequence context:
<dna>TTGAATTATTTTCCTGTTGCTGTTGTAACAAATTACCACAAACGTAGTGGCTTAAAACAACACAAA... | [
"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\nReference allele: G\nAlternate allele: C\nAlternate sequence context:\n<dna>TTGAATTATTTTCCTGTTG... | clinvar_variant_summary | 746987 | 748276 | GRCh38 | 3 | 44,786,420 | G | C | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 353681b842c7bdffb7bf32705b0b828afe8e684e333a2799b3c32a52c121a017 | 44b0230aeb092afb0dcaad758695e26705c1832ff3964248406d6238ea78cdcc | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-728847-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: T
Alternate sequence context:
<dna>ATAATAACATTCCAATAAGCAGTTACTTAAATCCATGAACATTTGAATTAATTTGATTTTGCTTTT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: T
Alternate sequence context:
<dna>ATAATAACATTCCAATAAGCAGTTACTTAAATCCATGAACATTTGAATTAATTTGATTTTGCTTTT... | [
"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\nReference allele: A\nAlternate allele: T\nAlternate sequence context:\n<dna>ATAATAACATTCCAATAAG... | clinvar_variant_summary | 728847 | 732158 | GRCh38 | 1 | 219,988,790 | A | T | Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 59b04cc87f524e9ea74209a4d7c252a09a542577c8ba5b6f24bdc2bc508d073f | 93eab9dd571d96b762fd0c3e0d8567a7517a79158b76766cb9dd1b2960450134 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2680456-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: T
Alternate sequence context:
<dna>AAATAAAAGTTTGTAAAGGTGGGAAAACTGAGGCCGGAGAAGGAAGCAGACCTGCCCAGTGCCACA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: T
Alternate sequence context:
<dna>AAATAAAAGTTTGTAAAGGTGGGAAAACTGAGGCCGGAGAAGGAAGCAGACCTGCCCAGTGCCACA... | [
"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\nReference allele: G\nAlternate allele: T\nAlternate sequence context:\n<dna>AAATAAAAGTTTGTAAAGG... | clinvar_variant_summary | 2680456 | 2838860 | GRCh38 | 10 | 71,811,754 | G | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | aa9dfacd7af495af14ae1276f1a4fe3d223463cf40cb65b3eaabe7a1d2223e00 | 7123aaa745bc62cf5a5c9f643f8fb7ad7af5674f964e11987f31005741b4d7d2 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-974534-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: C
Alternate sequence context:
<dna>AGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: C
Alternate sequence context:
<dna>AGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTT... | [
"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\nReference allele: G\nAlternate allele: C\nAlternate sequence context:\n<dna>AGCAGCCCCGTCTGTGTCC... | clinvar_variant_summary | 974534 | 962748 | GRCh38 | 16 | 2,091,861 | G | C | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | bb1fe6a5ce7902be1aba5211b5e693fff2aa69f29105052d463976fbfd8c6b42 | 4ec6b68f7e4c7306f15a35bd8d53657a6f0bcef117c941d52b99129eef423fa9 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2705234-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>AAACTATAAGATGCATTTCTTCCTGTCTAGATACTGTACCTACTCTTACCAACCTCCCTCTTCCTC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: C
Alternate allele: T
Alternate sequence context:
<dna>AAACTATAAGATGCATTTCTTCCTGTCTAGATACTGTACCTACTCTTACCAACCTCCCTCTTCCTC... | [
"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\nReference allele: C\nAlternate allele: T\nAlternate sequence context:\n<dna>AAACTATAAGATGCATTTC... | clinvar_variant_summary | 2705234 | 2860243 | GRCh38 | 8 | 99,766,867 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 96a9dd1d99dc8263ba6b64310fccba979b5c39ad3a96adc921d3c74ac4ca4a99 | d9b4e927be6c715da4377a6ecffc716e71856580495c5e19a3a843dbf30d3e95 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-444241-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>TCCTAAAATACCAAAAAATAGCTGGGCGTGGTTGCACATACCTGTAATCCCAGCTATCTGGGAAGC... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>TCCTAAAATACCAAAAAATAGCTGGGCGTGGTTGCACATACCTGTAATCCCAGCTATCTGGGAAGC... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>TCCTAAAATACCAAAAAAT... | clinvar_variant_summary | 444241 | 437881 | GRCh38 | 11 | 678,740 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 2e95528b286d38f66cff9206b06c438a29d43744d43297fd8e5c897894d1cdd0 | 51cbca14d367093191fdcfc431c63a71648c2b00a6ab607c865cc21e10d011a8 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1291060-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>TATTAATTTCTTAACCTACTGTAAATAAACTTCACCTGACCAGATTGTTCCTCAGAACTCTCAGTT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>TATTAATTTCTTAACCTACTGTAAATAAACTTCACCTGACCAGATTGTTCCTCAGAACTCTCAGTT... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>TATTAATTTCTTAACCTAC... | clinvar_variant_summary | 1291060 | 1280880 | GRCh38 | 1 | 209,790,458 | G | A | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 82e5508bf656c97bde84eaa47319eca6f33be30ec7287abd02e9e002f4e64d08 | 44297ca76fd1ae14de31724a7fc8bd36e1e91e21b0426b3e42d42e7dbc819183 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-551050-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: C
Alternate sequence context:
<dna>TGGTGCTCACTGGTTCTGGTTGAAACTGATGTAAGTGTTGAGCCAAGATCAGACTCTGAGTATTGA... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: A
Alternate allele: C
Alternate sequence context:
<dna>TGGTGCTCACTGGTTCTGGTTGAAACTGATGTAAGTGTTGAGCCAAGATCAGACTCTGAGTATTGA... | [
"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\nReference allele: A\nAlternate allele: C\nAlternate sequence context:\n<dna>TGGTGCTCACTGGTTCTGG... | clinvar_variant_summary | 551050 | 543992 | GRCh38 | 6 | 129,464,288 | A | C | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | fc18f95e7a21bb23d36276dceb275c791310c87150eab0a94d7425d470ca20d6 | 1a7bb73755ebf7537465c42fb3562fe950659ba13fcb5e14e4050b33b78bdcca | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-303794-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: C
Alternate sequence context:
<dna>GCCTGGTTGGGAAGGATATACCAGTGTGTGCAAAGGAGGGGCCGCTGAGATACAATTTTCCAGATG... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: C
Alternate sequence context:
<dna>GCCTGGTTGGGAAGGATATACCAGTGTGTGCAAAGGAGGGGCCGCTGAGATACAATTTTCCAGATG... | [
"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\nReference allele: G\nAlternate allele: C\nAlternate sequence context:\n<dna>GCCTGGTTGGGAAGGATAT... | clinvar_variant_summary | 303794 | 325666 | GRCh38 | 11 | 17,493,927 | G | C | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 2cfe51527a89e1da92968cebd65b7df8c6a59839b17f922f67e571cc6382b5c2 | 5d9d4dfd6fb7c9202c9480e83e79e8915a2dfb1780c36d86c0b20500db70ea65 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1030710-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>CTGTTTTTGAAAAAATAAATACTGTTTAAATTTAGATATAACAGTATTCCTTATAAAAATTTATTT... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
Reference allele: G
Alternate allele: A
Alternate sequence context:
<dna>CTGTTTTTGAAAAAATAAATACTGTTTAAATTTAGATATAACAGTATTCCTTATAAAAATTTATTT... | [
"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\nReference allele: G\nAlternate allele: A\nAlternate sequence context:\n<dna>CTGTTTTTGAAAAAATAAA... | clinvar_variant_summary | 1030710 | 1015818 | GRCh38 | 2 | 110,131,733 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b94897a81c5e2759a0ff99599117294420ed5cab93945027040d43e3a8adac3d | d0de9e9639418d3046094b245a09a2bcb044a39d6945d1bab7dd5acb4226b961 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
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