# entry[].resource.text.div
"HLA-A*01:01:01:01, exon 2"

# entry[].resource.text.div
"HLA-C*01:02:01, exon 3"

# entry[].resource.text.div
"HLA-C*03:04:01:01, exon 2"

# entry[].resource.text.div
"HLA-C*03:04:01:01, exon 3"

# entry[].resource.text.div
"HLA-A*01:01:01:01, exon 3"

# entry[].resource.text.div
"HLA-A*01:02, exon 2"

# entry[].resource.text.div
"HLA-A*01:02, exon 3"

# entry[].resource.text.div
"HLA-B*15:01:01:01, exon 2"

# entry[].resource.text.div
"HLA-B*15:01:01:01, exon 3"

# entry[].resource.text.div
"HLA-B*57:01:01, exon 2"

# entry[].resource.text.div
"HLA-B*57:01:01, exon 3"

# entry[].resource.text.div
"HLA-C*01:02:01, exon 2"

# entry[].resource.text.div
Generated Narrative with Details

id: coord-0-base

type: dna

coordinateSystem: 0

ReferenceSeqs

- | ReferenceSeqString | Strand | WindowStart | WindowEnd
* | ACGTAGTC | watson | 0 | 8

variant

start: 2

end: 2

observedAllele: ATG

referenceAllele: -

cigar: 3I

variant

start: 4

end: 5

observedAllele: T

referenceAllele: A

cigar: 1M

variant

start: 6

end: 7

observedAllele: -

referenceAllele: T

cigar: 1D

observedSeq: ACATGGTAGC

# entry[].resource.text.div
Generated Narrative with Details

id: coord-1-base

type: dna

coordinateSystem: 1

ReferenceSeqs

- | ReferenceSeqString | Strand | WindowStart | WindowEnd
* | ACGTAGTC | watson | 1 | 8

variant

start: 2

end: 3

observedAllele: ATG

referenceAllele: -

cigar: 3I

variant

start: 5

end: 5

observedAllele: T

referenceAllele: A

cigar: 3I

variant

start: 7

end: 7

observedAllele: -

referenceAllele: T

cigar: 1D

observedSeq: ACATGGTAGC

# entry[].resource.text.div
Generated Narrative with Details

id: example-pgx-1

type: dna

coordinateSystem: 0

patient: Patient/example

ReferenceSeqs

- | Orientation | ReferenceSeqId | Strand | WindowStart | WindowEnd
* | sense | NG_007726.3 (Details : {http://www.ncbi.nlm.nih.gov/nuccore code 'NG_007726.3' = 'NG_007726.3) | watson | 55227970 | 55227980

Variants

- | Start | End | ObservedAllele | ReferenceAllele | VariantPointer
* | 55227976 | 55227977 | G | T | Target Haplotype Observation

# entry[].resource.text.div
Generated Narrative with Details

id: example

type: dna

coordinateSystem: 0

patient: Patient/example

ReferenceSeqs

- | ReferenceSeqId | Strand | WindowStart | WindowEnd
* | NC_000009.11 (Details : {http://www.ncbi.nlm.nih.gov/nuccore code 'NC_000009.11' = 'NC_000009.11) | watson | 22125500 | 22125510

Variants

- | Start | End | ObservedAllele | ReferenceAllele
* | 22125503 | 22125504 | C | G

Repositories

- | Type | Url | Name | VariantsetId
* | openapi | http://grch37.rest.ensembl.org/ga4gh/variants/3:rs1333049?content-type=application/json | GA4GH API | 3:rs1333049

# entry[].resource.text.div
Generated Narrative with Details

id: fda-example

type: dna

coordinateSystem: 1

patient: Patient/example

ReferenceSeqs

- | ReferenceSeqId | Strand | WindowStart | WindowEnd
* | NC_000001.11 (Details : {http://www.ncbi.nlm.nih.gov/nuccore code 'NC_000001.11' = 'NC_000001.11) | watson | 10453 | 101770080

Variants

- | Start | End | ObservedAllele | ReferenceAllele
* | 13116 | 13117 | T | G

Qualities

- | Type | StandardSequence | Start | End | Method | TruthTP | QueryTP | TruthFN | QueryFP | GtFP | Precision | Recall | FScore
* | snp | file-Bk50V4Q0qVb65P0v2VPbfYPZ (Details : {https://precision.fda.gov/files/ code 'file-Bk50V4Q0qVb65P0v2VPbfYPZ' = 'file-Bk50V4Q0qVb65P0v2VPbfYPZ) | 10453 | 101770080 | Vcfeval + Hap.py Comparison (Details : {https://precision.fda.gov/jobs/ code 'job-ByxYPx809jFVy21KJG74Jg3Y' = 'job-ByxYPx809jFVy21KJG74Jg3Y) | 7749 | 7984 | 2554 | 10670 | 2186 | 0.428005 | 0.752111 | 0.545551

Repositories

- | Type | Url | Name | VariantsetId
* | login | https://precision.fda.gov/files/file-Bx37ZK009P4bX5g3qjkFZV38 | FDA | file-Bx37ZK009P4bX5g3qjkFZV38

# entry[].resource.text.div
Generated Narrative with Details

id: fda-vcf-comparison

coordinateSystem: 1

patient: Patient/example

ReferenceSeqs

- | ReferenceSeqId | Strand | WindowStart | WindowEnd
* | NC_000001.11 (Details : {http://www.ncbi.nlm.nih.gov/nuccore code 'NC_000001.11' = 'NC_000001.11) | watson | 10453 | 101770080

Variants

- | Start | End | ObservedAllele | ReferenceAllele
* | 13116 | 13117 | T | G

Qualities

- | Type | StandardSequence | Start | End | Score | Method | TruthTP | TruthFN | QueryFP | GtFP | Precision | FScore
* | unknown | file-BkZxBZ00bpJVk2q6x43b1YBx (Details : {https://precision.fda.gov/files/ code 'file-BkZxBZ00bpJVk2q6x43b1YBx' = 'file-BkZxBZ00bpJVk2q6x43b1YBx) | 10453 | 101770080 | 5.000 | VCF Comparison (Details : {https://precision.fda.gov/apps/ code 'app-BqB9XZ8006ZZ2g5KzGXP3fpq' = 'app-BqB9XZ8006ZZ2g5KzGXP3fpq) | 129481 | 3168 | 1507 | 2186 | 0.9885 | 0.9823

Repositories

- | Type | Url | Name
* | login | https://precision.fda.gov/comparisons/1850 | FDA

# entry[].resource.text.div
Generated Narrative with Details

id: fda-vcfeval-comparison

coordinateSystem: 1

patient: Patient/example

ReferenceSeqs

- | ReferenceSeqId | Strand | WindowStart | WindowEnd
* | NC_000001.11 (Details : {http://www.ncbi.nlm.nih.gov/nuccore code 'NC_000001.11' = 'NC_000001.11) | watson | 10453 | 101770080

Variants

- | Start | End | ObservedAllele | ReferenceAllele
* | 13116 | 13117 | T | G

quality

type: indel

standardSequence: file-BkZxBZ00bpJVk2q6x43b1YBx (Details : {https://precision.fda.gov/files/ code 'file-BkZxBZ00bpJVk2q6x43b1YBx' = 'file-BkZxBZ00bpJVk2q6x43b1YBx)

start: 10453

end: 101770080

method: Vcfeval + Hap.py Comparison (Details : {https://precision.fda.gov/apps/ code 'app-BxfGF8j02pBZzZxbzZxP725P' = 'app-BxfGF8j02pBZzZxbzZxP725P)

truthTP: 7749

truthFN: 2554

queryFP: 10670

gtFP: 2186

precision: 0.428005

recall: 0.752111

quality

type: snp

standardSequence: file-BkZxBZ00bpJVk2q6x43b1YBx (Details : {https://precision.fda.gov/files/ code 'file-BkZxBZ00bpJVk2q6x43b1YBx' = 'file-BkZxBZ00bpJVk2q6x43b1YBx)

start: 10453

end: 101770080

method: Vcfeval + Hap.py Comparison (Details : {https://precision.fda.gov/apps/ code 'app-BxfGF8j02pBZzZxbzZxP725P' = 'app-BxfGF8j02pBZzZxbzZxP725P)

truthTP: 92106

truthFN: 1247

queryFP: 21744

gtFP: 493

precision: 0.808602

recall: 0.986642

Repositories

- | Type | Url | Name
* | login | https://precision.fda.gov/jobs/job-ByxYPx809jFVy21KJG74Jg3Y | FDA

# entry[].resource.text.div
Generated Narrative with Details

id: sequence-complex-variant

identifier: ?? (OFFICIAL)

type: dna

coordinateSystem: 1

specimen: Molecular Specimen ID: MLD45-Z4-1234

device: 12 lead EKG Device Metric

performer: HL7

quantity: 25

ReferenceSeqs

- | ReferenceSeqId | Strand | WindowStart | WindowEnd
* | NC_000002.12 (Details : {http://www.ncbi.nlm.nih.gov/nuccore code 'NC_000002.12' = 'NC_000002.12) | watson | 128273724 | 128273754

Variants

- | Start | End | ObservedAllele | ReferenceAllele | Cigar
* | 128273724 | 128273736 | CTCATTGT | CTCCATTGCATGCGTT | 3M1D4M6N2M

readCoverage: 1

Repositories

- | Type | DatasetId | ReadsetId
* | other | Ensembl | v1beta2