Searching: http://spark.kufu.no/fhir/_snapshot?id=b74bc720-5271-4271-8ada-6d753c6bcba9&start=0
From RowNum: 0
id: b74bc720-5271-4271-8ada-6d753c6bcba9 (excluded)
start: 0
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Next Link: http://spark.kufu.no/fhir/_snapshot?id=b74bc720-5271-4271-8ada-6d753c6bcba9&start=20
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Type: Searchset, 20 of 29
MolecularSequence/1/_history/1 Modified: 5/28/2019 2:45:12 PM +02:00

"HLA-A*01:01:01:01, exon 2"
MolecularSequence/10/_history/1 Modified: 5/28/2019 2:45:13 PM +02:00

"HLA-C*01:02:01, exon 3"
MolecularSequence/11/_history/1 Modified: 5/28/2019 2:45:13 PM +02:00

"HLA-C*03:04:01:01, exon 2"
MolecularSequence/12/_history/1 Modified: 5/28/2019 2:45:13 PM +02:00

"HLA-C*03:04:01:01, exon 3"
MolecularSequence/2/_history/1 Modified: 5/28/2019 2:45:12 PM +02:00

"HLA-A*01:01:01:01, exon 3"
MolecularSequence/3/_history/1 Modified: 5/28/2019 2:45:13 PM +02:00

"HLA-A*01:02, exon 2"
MolecularSequence/4/_history/1 Modified: 5/28/2019 2:45:13 PM +02:00

"HLA-A*01:02, exon 3"
MolecularSequence/5/_history/1 Modified: 5/28/2019 2:45:13 PM +02:00

"HLA-B*15:01:01:01, exon 2"
MolecularSequence/6/_history/1 Modified: 5/28/2019 2:45:13 PM +02:00

"HLA-B*15:01:01:01, exon 3"
MolecularSequence/7/_history/1 Modified: 5/28/2019 2:45:13 PM +02:00

"HLA-B*57:01:01, exon 2"
MolecularSequence/8/_history/1 Modified: 5/28/2019 2:45:13 PM +02:00

"HLA-B*57:01:01, exon 3"
MolecularSequence/9/_history/1 Modified: 5/28/2019 2:45:13 PM +02:00

"HLA-C*01:02:01, exon 2"
MolecularSequence/coord-0-base/_history/1 Modified: 5/28/2019 2:44:30 PM +02:00

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

MolecularSequence/coord-1-base/_history/1 Modified: 5/28/2019 2:44:30 PM +02:00

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

MolecularSequence/example-pgx-1/_history/1 Modified: 5/28/2019 2:51:38 PM +02:00

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
MolecularSequence/example/_history/1 Modified: 5/28/2019 2:47:45 PM +02:00

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
MolecularSequence/fda-example/_history/1 Modified: 5/28/2019 2:51:37 PM +02:00

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
MolecularSequence/fda-vcf-comparison/_history/1 Modified: 5/28/2019 2:51:37 PM +02:00

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
MolecularSequence/fda-vcfeval-comparison/_history/1 Modified: 5/28/2019 2:51:38 PM +02:00

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
MolecularSequence/sequence-complex-variant/_history/1 Modified: 5/28/2019 2:51:37 PM +02:00

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