2-219694923-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219694923
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219694923
    reference: chr 2
allele count: 1
allele frequency: 8.332916687498959e-6
allele num: 120006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.444G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.411G>A
  hgvsp: ENST00000392098.3:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.411G>A
  hgvsp: ENST00000470307.2:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-142G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.336G>A
  hgvsp: ENST00000439262.2:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.411G>A
  hgvsp: ENST00000529249.1:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.411G>A
  hgvsp: ENST00000233944.3:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr137Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-219694924-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219694924
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219694924
    reference: chr 2
allele count: 38
allele frequency: 3.166613889768504e-4
allele num: 120002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-143C>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.410C>A
  hgvsp: ENSP00000375947.3:p.Thr137Lys
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.410C>A
  hgvsp: ENSP00000436068.1:p.Thr137Lys
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.335C>A
  hgvsp: ENSP00000397133.2:p.Thr112Lys
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.443C>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.410C>A
  hgvsp: ENSP00000233944.3:p.Thr137Lys
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.410C>A
  hgvsp: ENSP00000419272.2:p.Thr137Lys
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11816
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39721
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr137Lys
num of homozygotes: 1
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

2-219694929-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219694929
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219694929
    reference: chr 2
allele count: 1
allele frequency: 8.335834083558401e-6
allele num: 119964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.405G>A
  hgvsp: ENST00000470307.2:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.405G>A
  hgvsp: ENST00000392098.3:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.405G>A
  hgvsp: ENST00000233944.3:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.330G>A
  hgvsp: ENST00000439262.2:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.405G>A
  hgvsp: ENST00000529249.1:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.438G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-148G>A
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42918
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu135Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

2-219694937-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219694937
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219694937
    reference: chr 2
allele count: 5
allele frequency: 4.172229639519359e-5
allele num: 119840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.397G>A
  hgvsp: ENSP00000375947.3:p.Val133Met
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.397G>A
  hgvsp: ENSP00000436068.1:p.Val133Met
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-156G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.322G>A
  hgvsp: ENSP00000397133.2:p.Val108Met
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.430G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.397G>A
  hgvsp: ENSP00000233944.3:p.Val133Met
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.397G>A
  hgvsp: ENSP00000419272.2:p.Val133Met
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39307
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11854
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6536
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val133Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-219694946-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219694946
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219694946
    reference: chr 2
allele count: 1
allele frequency: 8.357849692431131e-6
allele num: 119648
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.388A>G
  hgvsp: ENSP00000419272.2:p.Thr130Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-165A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.388A>G
  hgvsp: ENSP00000436068.1:p.Thr130Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.313A>G
  hgvsp: ENSP00000397133.2:p.Thr105Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.388A>G
  hgvsp: ENSP00000233944.3:p.Thr130Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.421A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.388A>G
  hgvsp: ENSP00000375947.3:p.Thr130Ala
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr130Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-219694959-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219694959
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219694959
    reference: chr 2
allele count: 3
allele frequency: 2.511258810332993e-5
allele num: 119462
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.300T>C
  hgvsp: ENST00000439262.2:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.375T>C
  hgvsp: ENST00000233944.3:c.375T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.375T>C
  hgvsp: ENST00000529249.1:c.375T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.375T>C
  hgvsp: ENST00000392098.3:c.375T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-178T>C
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.408T>C
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.375T>C
  hgvsp: ENST00000470307.2:c.375T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12224
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38165
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41731
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala125Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

2-219694959-AGCTGAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219694959
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219694953
    reference: chr 2
allele count: 1
allele frequency: 8.370862701109976e-6
allele num: 119462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.369_374delCTCAGC
  hgvsp: ENSP00000375947.3:p.Ser124_Ala125del
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.369_374delCTCAGC
  hgvsp: ENSP00000419272.2:p.Ser124_Ala125del
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-184_-179delCTCAGC
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.294_299delCTCAGC
  hgvsp: ENSP00000397133.2:p.Ser99_Ala100del
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.402_407delCTCAGC
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.369_374delCTCAGC
  hgvsp: ENSP00000436068.1:p.Ser124_Ala125del
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.369_374delCTCAGC
  hgvsp: ENSP00000233944.3:p.Ser124_Ala125del
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12224
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser124_Ala125del
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: AGCTGAG
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-219694966-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219694966
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219694966
    reference: chr 2
allele count: 1
allele frequency: 8.380824673147837e-6
allele num: 119320
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.368C>T
  hgvsp: ENSP00000436068.1:p.Ala123Val
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.401C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.368C>T
  hgvsp: ENSP00000233944.3:p.Ala123Val
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.368C>T
  hgvsp: ENSP00000419272.2:p.Ala123Val
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.293C>T
  hgvsp: ENSP00000397133.2:p.Ala98Val
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-185C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.368C>T
  hgvsp: ENSP00000375947.3:p.Ala123Val
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12286
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6484
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala123Val
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

2-219694970-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219694970
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219694970
    reference: chr 2
allele count: 1
allele frequency: 8.386306838194597e-6
allele num: 119242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.364A>G
  hgvsp: ENSP00000233944.3:p.Thr122Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.364A>G
  hgvsp: ENSP00000436068.1:p.Thr122Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.364A>G
  hgvsp: ENSP00000375947.3:p.Thr122Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.289A>G
  hgvsp: ENSP00000397133.2:p.Thr97Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.397A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.364A>G
  hgvsp: ENSP00000419272.2:p.Thr122Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-189A>G
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6495
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr122Ala
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

2-219694974-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219694974
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219694974
    reference: chr 2
allele count: 1
allele frequency: 8.390528771123156e-6
allele num: 119182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.360C>G
  hgvsp: ENSP00000233944.3:p.Asp120Glu
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.393C>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.285C>G
  hgvsp: ENSP00000397133.2:p.Asp95Glu
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.360C>G
  hgvsp: ENSP00000419272.2:p.Asp120Glu
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.360C>G
  hgvsp: ENSP00000436068.1:p.Asp120Glu
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.360C>G
  hgvsp: ENSP00000375947.3:p.Asp120Glu
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-193C>G
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp120Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

2-219694976-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219694976
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219694976
    reference: chr 2
allele count: 19
allele frequency: 1.594976662973037e-4
allele num: 119124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.358G>A
  hgvsp: ENSP00000419272.2:p.Asp120Asn
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.358G>A
  hgvsp: ENSP00000436068.1:p.Asp120Asn
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.391G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.358G>A
  hgvsp: ENSP00000375947.3:p.Asp120Asn
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-195G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.283G>A
  hgvsp: ENSP00000397133.2:p.Asp95Asn
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.358G>A
  hgvsp: ENSP00000233944.3:p.Asp120Asn
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37051
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12499
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp120Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-219694982-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219694982
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219694982
    reference: chr 2
allele count: 2
allele frequency: 1.68084176555619e-5
allele num: 118988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-201C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.277C>T
  hgvsp: ENSP00000397133.2:p.Pro93Ser
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.352C>T
  hgvsp: ENSP00000233944.3:p.Pro118Ser
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.352C>T
  hgvsp: ENSP00000375947.3:p.Pro118Ser
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.352C>T
  hgvsp: ENSP00000419272.2:p.Pro118Ser
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.352C>T
  hgvsp: ENSP00000436068.1:p.Pro118Ser
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.385C>T
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40414
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro118Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/2-219694987-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219694987
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219694987
    reference: chr 2
allele count: 6
allele frequency: 5.049824939402101e-5
allele num: 118816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.272G>T
  hgvsp: ENSP00000397133.2:p.Cys91Phe
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-206G>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.347G>T
  hgvsp: ENSP00000436068.1:p.Cys116Phe
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.347G>T
  hgvsp: ENSP00000233944.3:p.Cys116Phe
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.347G>T
  hgvsp: ENSP00000375947.3:p.Cys116Phe
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.347G>T
  hgvsp: ENSP00000419272.2:p.Cys116Phe
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.380G>T
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36245
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39755
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Cys116Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

2-219694989-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219694989
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219694989
    reference: chr 2
allele count: 42
allele frequency: 3.537259129497372e-4
allele num: 118736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.345C>T
  hgvsp: ENST00000392098.3:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-208C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.345C>T
  hgvsp: ENST00000233944.3:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.345C>T
  hgvsp: ENST00000529249.1:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.378C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.270C>T
  hgvsp: ENST00000439262.2:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.345C>T
  hgvsp: ENST00000470307.2:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35999
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12626
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp115Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-219694994-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219694994
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219694995
    reference: chr 2
allele count: 1
allele frequency: 8.431561019207096e-6
allele num: 118602
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.339dupG
  hgvsp: ENSP00000375947.3:p.Trp114ValfsTer7
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.339dupG
  hgvsp: ENSP00000419272.2:p.Trp114ValfsTer7
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.372dupG
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.264dupG
  hgvsp: ENSP00000397133.2:p.Trp89ValfsTer7
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.339dupG
  hgvsp: ENSP00000233944.3:p.Trp114ValfsTer7
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.339dupG
  hgvsp: ENSP00000436068.1:p.Trp114ValfsTer7
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-214dupG
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Trp114ValfsTer7
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

2-219694995-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219694995
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219694995
    reference: chr 2
allele count: 1
allele frequency: 8.430565859580495e-6
allele num: 118616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.339G>A
  hgvsp: ENST00000233944.3:c.339G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.264G>A
  hgvsp: ENST00000439262.2:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.339G>A
  hgvsp: ENST00000392098.3:c.339G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-214G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.339G>A
  hgvsp: ENST00000470307.2:c.339G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.339G>A
  hgvsp: ENST00000529249.1:c.339G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.372G>A
  variant of: http://identifiers.org/hgnc/9387
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12878
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2595
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 2.75e1
  variant carriers: 0
hgvs: c.-214G>A
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-219694998-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219694998
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219694998
    reference: chr 2
allele count: 1
allele frequency: 8.434121080242228e-6
allele num: 118566
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.369A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.336A>G
  hgvsp: ENST00000529249.1:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.261A>G
  hgvsp: ENST00000439262.2:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-215-2A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.336A>G
  hgvsp: ENST00000392098.3:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.336A>G
  hgvsp: ENST00000470307.2:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.336A>G
  hgvsp: ENST00000233944.3:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12916
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6455
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
hgvs: c.-215-2A>G
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-219695000-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695000
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695000
    reference: chr 2
allele count: 1
allele frequency: 8.436397995511836e-6
allele num: 118534
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.334A>G
  hgvsp: ENSP00000419272.2:p.Thr112Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.334A>G
  hgvsp: ENSP00000375947.3:p.Thr112Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.334A>G
  hgvsp: ENSP00000436068.1:p.Thr112Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-215-4A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.367A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.259A>G
  hgvsp: ENSP00000397133.2:p.Thr87Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.334A>G
  hgvsp: ENSP00000233944.3:p.Thr112Ala
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35605
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr112Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

2-219695003-G-GTGGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695003
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695007
    reference: chr 2
allele count: 1
allele frequency: 8.441810599537389e-6
allele num: 118458
alternate allele: GTGGA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.327_330dupTCCA
  hgvsp: ENSP00000436068.1:p.Pro111SerfsTer11
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.327_330dupTCCA
  hgvsp: ENSP00000233944.3:p.Pro111SerfsTer11
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.252_255dupTCCA
  hgvsp: ENSP00000397133.2:p.Pro86SerfsTer11
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.360_363dupTCCA
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.327_330dupTCCA
  hgvsp: ENSP00000375947.3:p.Pro111SerfsTer11
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.327_330dupTCCA
  hgvsp: ENSP00000419272.2:p.Pro111SerfsTer11
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-215-11_-215-8dupTCCA
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12881
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro111SerfsTer11
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-219695006-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695006
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695006
    reference: chr 2
allele count: 1
allele frequency: 8.456373568758774e-6
allele num: 118254
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.328C>G
  hgvsp: ENSP00000436068.1:p.Pro110Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.328C>G
  hgvsp: ENSP00000233944.3:p.Pro110Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.253C>G
  hgvsp: ENSP00000397133.2:p.Pro85Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-215-10C>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.328C>G
  hgvsp: ENSP00000419272.2:p.Pro110Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.328C>G
  hgvsp: ENSP00000375947.3:p.Pro110Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.361C>G
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6457
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro110Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

2-219695008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695008
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695008
    reference: chr 2
allele count: 1
allele frequency: 8.464533604198409e-6
allele num: 118140
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.326C>T
  hgvsp: ENSP00000436068.1:p.Thr109Ile
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.326C>T
  hgvsp: ENSP00000419272.2:p.Thr109Ile
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.251C>T
  hgvsp: ENSP00000397133.2:p.Thr84Ile
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-215-12C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.326C>T
  hgvsp: ENSP00000375947.3:p.Thr109Ile
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.359C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.326C>T
  hgvsp: ENSP00000233944.3:p.Thr109Ile
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr109Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

2-219695011-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695011
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695011
    reference: chr 2
allele count: 1
allele frequency: 8.498053945646446e-6
allele num: 117674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-215-15G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.323G>A
  hgvsp: ENSP00000375947.3:p.Gly108Asp
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.323G>A
  hgvsp: ENSP00000436068.1:p.Gly108Asp
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.323G>A
  hgvsp: ENSP00000419272.2:p.Gly108Asp
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.248G>A
  hgvsp: ENSP00000397133.2:p.Gly83Asp
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.323G>A
  hgvsp: ENSP00000233944.3:p.Gly108Asp
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.356G>A
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2887
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly108Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-219695014-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695014
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695013
    reference: chr 2
allele count: 2
allele frequency: 1.699264218593349e-5
allele num: 117698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.319delG
  hgvsp: ENSP00000419272.2:p.Val107TrpfsTer43
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-216+16delG
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.319delG
  hgvsp: ENSP00000233944.3:p.Val107TrpfsTer43
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.352delG
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.319delG
  hgvsp: ENSP00000375947.3:p.Val107TrpfsTer43
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.244delG
  hgvsp: ENSP00000397133.2:p.Val82TrpfsTer43
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.319delG
  hgvsp: ENSP00000436068.1:p.Val107TrpfsTer43
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val107TrpfsTer43
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: AC
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

2-219695018-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695018
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695018
    reference: chr 2
allele count: 1
allele frequency: 8.513536523071684e-6
allele num: 117460
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.316G>C
  hgvsp: ENSP00000375947.3:p.Gly106Arg
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-216+13G>C
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.241G>C
  hgvsp: ENSP00000397133.2:p.Gly81Arg
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.316G>C
  hgvsp: ENSP00000233944.3:p.Gly106Arg
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.316G>C
  hgvsp: ENSP00000419272.2:p.Gly106Arg
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.316G>C
  hgvsp: ENSP00000436068.1:p.Gly106Arg
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.349G>C
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39444
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly106Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

2-219695018-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695018
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695018
    reference: chr 2
allele count: 3
allele frequency: 2.554060956921505e-5
allele num: 117460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.316G>A
  hgvsp: ENSP00000375947.3:p.Gly106Arg
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.241G>A
  hgvsp: ENSP00000397133.2:p.Gly81Arg
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-216+13G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.316G>A
  hgvsp: ENSP00000436068.1:p.Gly106Arg
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.316G>A
  hgvsp: ENSP00000419272.2:p.Gly106Arg
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.316G>A
  hgvsp: ENSP00000233944.3:p.Gly106Arg
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.349G>A
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13512
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6487
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly106Arg
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

2-219695019-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695019
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695019
    reference: chr 2
allele count: 4
allele frequency: 3.406284595077919e-5
allele num: 117430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.315C>T
  hgvsp: ENST00000470307.2:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.315C>T
  hgvsp: ENST00000529249.1:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-216+12C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.315C>T
  hgvsp: ENST00000392098.3:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.315C>T
  hgvsp: ENST00000233944.3:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.348C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.240C>T
  hgvsp: ENST00000439262.2:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34266
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala105Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

2-219695023-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695023
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695023
    reference: chr 2
allele count: 3
allele frequency: 2.556716494230343e-5
allele num: 117338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.311C>T
  hgvsp: ENSP00000233944.3:p.Pro104Leu
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.311C>T
  hgvsp: ENSP00000436068.1:p.Pro104Leu
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.311C>T
  hgvsp: ENSP00000375947.3:p.Pro104Leu
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.299C>T
  hgvsp: ENSP00000416100.1:p.Pro100Leu
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.311C>T
  hgvsp: ENSP00000419272.2:p.Pro104Leu
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.236C>T
  hgvsp: ENSP00000397133.2:p.Pro79Leu
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.344C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-216+8C>T
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13783
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro104Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

2-219695024-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695024
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695024
    reference: chr 2
allele count: 1
allele frequency: 8.523986498005388e-6
allele num: 117316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.310C>G
  hgvsp: ENSP00000419272.2:p.Pro104Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.343C>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.298C>G
  hgvsp: ENSP00000416100.1:p.Pro100Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.235C>G
  hgvsp: ENSP00000397133.2:p.Pro79Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.310C>G
  hgvsp: ENSP00000233944.3:p.Pro104Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.310C>G
  hgvsp: ENSP00000436068.1:p.Pro104Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.310C>G
  hgvsp: ENSP00000375947.3:p.Pro104Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-216+7C>G
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro104Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

2-219695025-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695025
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695025
    reference: chr 2
allele count: 3
allele frequency: 2.556672916311573e-5
allele num: 117340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.297T>C
  hgvsp: ENST00000430489.1:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-216+6T>C
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.309T>C
  hgvsp: ENST00000529249.1:c.309T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.309T>C
  hgvsp: ENST00000392098.3:c.309T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.309T>C
  hgvsp: ENST00000470307.2:c.309T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.342T>C
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.234T>C
  hgvsp: ENST00000439262.2:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.309T>C
  hgvsp: ENST00000233944.3:c.309T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6615
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
hgvs: c.-216+6T>C
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

2-219695026-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695026
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695026
    reference: chr 2
allele count: 6
allele frequency: 5.115874558755819e-5
allele num: 117282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.308A>G
  hgvsp: ENSP00000233944.3:p.Asp103Gly
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.308A>G
  hgvsp: ENSP00000419272.2:p.Asp103Gly
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.308A>G
  hgvsp: ENSP00000436068.1:p.Asp103Gly
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.341A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.296A>G
  hgvsp: ENSP00000416100.1:p.Asp99Gly
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.233A>G
  hgvsp: ENSP00000397133.2:p.Asp78Gly
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-216+5A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.308A>G
  hgvsp: ENSP00000375947.3:p.Asp103Gly
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13781
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp103Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

2-219695036-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695036
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695036
    reference: chr 2
allele count: 4
allele frequency: 3.428532245345767e-5
allele num: 116668
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.298G>C
  hgvsp: ENSP00000419272.2:p.Ala100Pro
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.223G>C
  hgvsp: ENSP00000397133.2:p.Ala75Pro
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.298G>C
  hgvsp: ENSP00000233944.3:p.Ala100Pro
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.298G>C
  hgvsp: ENSP00000375947.3:p.Ala100Pro
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.286G>C
  hgvsp: ENSP00000416100.1:p.Ala96Pro
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-221G>C
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.298G>C
  hgvsp: ENSP00000436068.1:p.Ala100Pro
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.331G>C
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34306
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala100Pro
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

2-219695041-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695041
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695041
    reference: chr 2
allele count: 1
allele frequency: 8.583985716247769e-6
allele num: 116496
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.218C>T
  hgvsp: ENSP00000397133.2:p.Pro73Leu
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.281C>T
  hgvsp: ENSP00000416100.1:p.Pro94Leu
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-226C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.326C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.293C>T
  hgvsp: ENSP00000375947.3:p.Pro98Leu
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.293C>T
  hgvsp: ENSP00000436068.1:p.Pro98Leu
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.293C>T
  hgvsp: ENSP00000419272.2:p.Pro98Leu
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.293C>T
  hgvsp: ENSP00000233944.3:p.Pro98Leu
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro98Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

2-219695042-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695042
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695042
    reference: chr 2
allele count: 1
allele frequency: 8.590032126720154e-6
allele num: 116414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.292C>A
  hgvsp: ENSP00000375947.3:p.Pro98Thr
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.292C>A
  hgvsp: ENSP00000233944.3:p.Pro98Thr
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.280C>A
  hgvsp: ENSP00000416100.1:p.Pro94Thr
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.325C>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.217C>A
  hgvsp: ENSP00000397133.2:p.Pro73Thr
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.292C>A
  hgvsp: ENSP00000436068.1:p.Pro98Thr
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.292C>A
  hgvsp: ENSP00000419272.2:p.Pro98Thr
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-227C>A
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro98Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-219695044-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695044
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695044
    reference: chr 2
allele count: 1
allele frequency: 8.598600147895923e-6
allele num: 116298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.290C>T
  hgvsp: ENSP00000419272.2:p.Thr97Ile
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.290C>T
  hgvsp: ENSP00000436068.1:p.Thr97Ile
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.323C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.278C>T
  hgvsp: ENSP00000416100.1:p.Thr93Ile
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-229C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.215C>T
  hgvsp: ENSP00000397133.2:p.Thr72Ile
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.290C>T
  hgvsp: ENSP00000233944.3:p.Thr97Ile
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.290C>T
  hgvsp: ENSP00000375947.3:p.Thr97Ile
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr97Ile
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-219695046-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695046
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695046
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 116242
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.288C>T
  hgvsp: ENST00000529249.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.288C>T
  hgvsp: ENST00000470307.2:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-231C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.276C>T
  hgvsp: ENST00000430489.1:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.321C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.288C>T
  hgvsp: ENST00000233944.3:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.288C>T
  hgvsp: ENST00000392098.3:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.213C>T
  hgvsp: ENST00000439262.2:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr96Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-219695047-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695047
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695047
    reference: chr 2
allele count: 1
allele frequency: 8.606444505645828e-6
allele num: 116192
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.287C>T
  hgvsp: ENSP00000436068.1:p.Thr96Ile
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.320C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.287C>T
  hgvsp: ENSP00000233944.3:p.Thr96Ile
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.287C>T
  hgvsp: ENSP00000419272.2:p.Thr96Ile
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.212C>T
  hgvsp: ENSP00000397133.2:p.Thr71Ile
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-232C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.275C>T
  hgvsp: ENSP00000416100.1:p.Thr92Ile
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.287C>T
  hgvsp: ENSP00000375947.3:p.Thr96Ile
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6599
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr96Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-219695056-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695056
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695056
    reference: chr 2
allele count: 1
allele frequency: 8.637219506296534e-6
allele num: 115778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.203T>A
  hgvsp: ENSP00000397133.2:p.Phe68Tyr
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.278T>A
  hgvsp: ENSP00000419272.2:p.Phe93Tyr
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.278T>A
  hgvsp: ENSP00000436068.1:p.Phe93Tyr
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.278T>A
  hgvsp: ENSP00000233944.3:p.Phe93Tyr
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-241T>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.266T>A
  hgvsp: ENSP00000416100.1:p.Phe89Tyr
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.311T>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.278T>A
  hgvsp: ENSP00000375947.3:p.Phe93Tyr
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe93Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-219695062-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695062
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695062
    reference: chr 2
allele count: 2
allele frequency: 1.735719368892438e-5
allele num: 115226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-247C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.272C>T
  hgvsp: ENSP00000419272.2:p.Ala91Val
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.197C>T
  hgvsp: ENSP00000397133.2:p.Ala66Val
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.305C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.272C>T
  hgvsp: ENSP00000375947.3:p.Ala91Val
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.272C>T
  hgvsp: ENSP00000436068.1:p.Ala91Val
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.260C>T
  hgvsp: ENSP00000416100.1:p.Ala87Val
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.272C>T
  hgvsp: ENSP00000233944.3:p.Ala91Val
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala91Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

2-219695065-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695065
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695065
    reference: chr 2
allele count: 1
allele frequency: 8.707615680674318e-6
allele num: 114842
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.269A>C
  hgvsp: ENSP00000375947.3:p.Glu90Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.194A>C
  hgvsp: ENSP00000397133.2:p.Glu65Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.302A>C
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.269A>C
  hgvsp: ENSP00000233944.3:p.Glu90Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.269A>C
  hgvsp: ENSP00000419272.2:p.Glu90Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-250A>C
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.257A>C
  hgvsp: ENSP00000416100.1:p.Glu86Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.269A>C
  hgvsp: ENSP00000436068.1:p.Glu90Ala
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39175
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3521
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu90Ala
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

2-219695067-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695067
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695067
    reference: chr 2
allele count: 1
allele frequency: 8.712926497752064e-6
allele num: 114772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-252G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.255G>A
  hgvsp: ENST00000430489.1:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.267G>A
  hgvsp: ENST00000392098.3:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.267G>A
  hgvsp: ENST00000233944.3:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.192G>A
  hgvsp: ENST00000439262.2:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.267G>A
  hgvsp: ENST00000470307.2:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.300G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.267G>A
  hgvsp: ENST00000529249.1:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3571
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu89Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

2-219695072-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695072
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695072
    reference: chr 2
allele count: 6
allele frequency: 5.245488879563575e-5
allele num: 114384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-257G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.295G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.250G>A
  hgvsp: ENSP00000416100.1:p.Gly84Arg
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.262G>A
  hgvsp: ENSP00000419272.2:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.262G>A
  hgvsp: ENSP00000233944.3:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.187G>A
  hgvsp: ENSP00000397133.2:p.Gly63Arg
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.262G>A
  hgvsp: ENSP00000375947.3:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.262G>A
  hgvsp: ENSP00000436068.1:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly88Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-219695072-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695072
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695072
    reference: chr 2
allele count: 1
allele frequency: 8.742481465939292e-6
allele num: 114384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.262G>C
  hgvsp: ENSP00000419272.2:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.250G>C
  hgvsp: ENSP00000416100.1:p.Gly84Arg
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.262G>C
  hgvsp: ENSP00000233944.3:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.262G>C
  hgvsp: ENSP00000375947.3:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.187G>C
  hgvsp: ENSP00000397133.2:p.Gly63Arg
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-257G>C
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.262G>C
  hgvsp: ENSP00000436068.1:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.295G>C
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly88Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-219695073-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695073
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695073
    reference: chr 2
allele count: 122
allele frequency: 1.067534694877584e-3
allele num: 114282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-258C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.261C>T
  hgvsp: ENST00000470307.2:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.249C>T
  hgvsp: ENST00000430489.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.261C>T
  hgvsp: ENST00000392098.3:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.261C>T
  hgvsp: ENST00000233944.3:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.294C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.261C>T
  hgvsp: ENST00000529249.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.186C>T
  hgvsp: ENST00000439262.2:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13530
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 33592
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr87Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

2-219695073-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695073
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695073
    reference: chr 2
allele count: 1
allele frequency: 8.750284384242488e-6
allele num: 114282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.261C>G
  hgvsp: ENST00000233944.3:c.261C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.186C>G
  hgvsp: ENST00000439262.2:c.186C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.261C>G
  hgvsp: ENST00000392098.3:c.261C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.249C>G
  hgvsp: ENST00000430489.1:c.249C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.261C>G
  hgvsp: ENST00000470307.2:c.261C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-258C>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.294C>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.261C>G
  hgvsp: ENST00000529249.1:c.261C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13530
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3560
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr87Thr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ

2-219695086-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695086
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695086
    reference: chr 2
allele count: 1
allele frequency: 8.807468733485996e-6
allele num: 113540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.236C>T
  hgvsp: ENSP00000416100.1:p.Ala79Val
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.281C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.248C>T
  hgvsp: ENSP00000436068.1:p.Ala83Val
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.248C>T
  hgvsp: ENSP00000419272.2:p.Ala83Val
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.173C>T
  hgvsp: ENSP00000397133.2:p.Ala58Val
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.248C>T
  hgvsp: ENSP00000375947.3:p.Ala83Val
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-271C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.248C>T
  hgvsp: ENSP00000233944.3:p.Ala83Val
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13481
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3861
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala83Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-219695090-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695090
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695090
    reference: chr 2
allele count: 1
allele frequency: 8.844861135680169e-6
allele num: 113060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.169C>T
  hgvsp: ENSP00000397133.2:p.Pro57Ser
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.244C>T
  hgvsp: ENSP00000233944.3:p.Pro82Ser
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.244C>T
  hgvsp: ENSP00000375947.3:p.Pro82Ser
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.232C>T
  hgvsp: ENSP00000416100.1:p.Pro78Ser
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.277C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-275C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.244C>T
  hgvsp: ENSP00000419272.2:p.Pro82Ser
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.244C>T
  hgvsp: ENSP00000436068.1:p.Pro82Ser
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro82Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

2-219695098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695098
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695098
    reference: chr 2
allele count: 2
allele frequency: 1.776514478593e-5
allele num: 112580
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.236G>A
  hgvsp: ENSP00000436068.1:p.Arg79Gln
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.236G>A
  hgvsp: ENSP00000233944.3:p.Arg79Gln
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.224G>A
  hgvsp: ENSP00000416100.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.236G>A
  hgvsp: ENSP00000419272.2:p.Arg79Gln
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.161G>A
  hgvsp: ENSP00000397133.2:p.Arg54Gln
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.236G>A
  hgvsp: ENSP00000375947.3:p.Arg79Gln
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-283G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.269G>A
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4242
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg79Gln
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

2-219695099-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695099
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695099
    reference: chr 2
allele count: 3
allele frequency: 2.667710037703635e-5
allele num: 112456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.268C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.235C>T
  hgvsp: ENSP00000375947.3:p.Arg79Trp
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-284C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.235C>T
  hgvsp: ENSP00000436068.1:p.Arg79Trp
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.235C>T
  hgvsp: ENSP00000419272.2:p.Arg79Trp
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.223C>T
  hgvsp: ENSP00000416100.1:p.Arg75Trp
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.235C>T
  hgvsp: ENSP00000233944.3:p.Arg79Trp
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.160C>T
  hgvsp: ENSP00000397133.2:p.Arg54Trp
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32744
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg79Trp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

2-219695102-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695102
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695102
    reference: chr 2
allele count: 1
allele frequency: 8.903292437543403e-6
allele num: 112318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.157C>T
  hgvsp: ENSP00000397133.2:p.Pro53Ser
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.232C>T
  hgvsp: ENSP00000233944.3:p.Pro78Ser
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.232C>T
  hgvsp: ENSP00000375947.3:p.Pro78Ser
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.232C>T
  hgvsp: ENSP00000419272.2:p.Pro78Ser
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-287C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.265C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.232C>T
  hgvsp: ENSP00000436068.1:p.Pro78Ser
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.220C>T
  hgvsp: ENSP00000416100.1:p.Pro74Ser
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro78Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-219695104-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695104
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695104
    reference: chr 2
allele count: 2
allele frequency: 1.781864186311719e-5
allele num: 112242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.230G>A
  hgvsp: ENSP00000419272.2:p.Gly77Asp
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.230G>A
  hgvsp: ENSP00000375947.3:p.Gly77Asp
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.218G>A
  hgvsp: ENSP00000416100.1:p.Gly73Asp
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.155G>A
  hgvsp: ENSP00000397133.2:p.Gly52Asp
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.230G>A
  hgvsp: ENSP00000436068.1:p.Gly77Asp
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.263G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.230G>A
  hgvsp: ENSP00000233944.3:p.Gly77Asp
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-289G>A
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly77Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

2-219695109-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695109
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695109
    reference: chr 2
allele count: 2
allele frequency: 1.786097020790169e-5
allele num: 111976
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.230-5A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.218-5A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.263-5A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.155-5A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.230-5A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.230-5A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.230-5A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-289-5A>G
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
hgvs: c.230-5A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

2-219695111-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695111
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695111
    reference: chr 2
allele count: 1
allele frequency: 8.961697704013048e-6
allele num: 111586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-289-7C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.155-7C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.230-7C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.218-7C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.263-7C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.230-7C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.230-7C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.230-7C>T
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
hgvs: c.230-7C>T
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

2-219695111-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695111
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695111
    reference: chr 2
allele count: 1
allele frequency: 8.961697704013048e-6
allele num: 111586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.230-7C>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.218-7C>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.230-7C>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.263-7C>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.155-7C>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.230-7C>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-289-7C>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.230-7C>A
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4965
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37126
  bin: 6.25e1
  variant carriers: 0
hgvs: c.230-7C>A
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

2-219695126-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695126
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695126
    reference: chr 2
allele count: 1
allele frequency: 9.034239768723461e-6
allele num: 110690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-289-22C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.263-22C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.218-22C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.230-22C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.230-22C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.230-22C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.155-22C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.230-22C>T
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

2-219695128-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695128
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695128
    reference: chr 2
allele count: 7
allele frequency: 6.330029660710411e-5
allele num: 110584
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.263-24C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.218-24C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.230-24C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.230-24C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.155-24C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-289-24C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.230-24C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.230-24C>T
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30506
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12312
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 5515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

2-219695130-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695130
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695130
    reference: chr 2
allele count: 1
allele frequency: 9.057971014492753e-6
allele num: 110400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.218-26T>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.263-26T>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-289-26T>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.155-26T>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.230-26T>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.230-26T>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.230-26T>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.230-26T>A
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

2-219695146-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695146
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695146
    reference: chr 2
allele count: 11
allele frequency: 1.017557491998298e-4
allele num: 108102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.230-42G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.155-42G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.218-42G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-289-42G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.230-42G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.230-42G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.230-42G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.263-42G>A
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10398
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 29879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-219695150-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695150
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695150
    reference: chr 2
allele count: 6
allele frequency: 5.569789461958338e-5
allele num: 107724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.263-46T>C
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.230-46T>C
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.218-46T>C
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.230-46T>C
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.155-46T>C
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.230-46T>C
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.230-46T>C
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-289-46T>C
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2422
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

2-219695154-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695154
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695154
    reference: chr 2
allele count: 5
allele frequency: 4.67219854974957e-5
allele num: 107016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.218-50G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.263-50G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.230-50G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.230-50G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.155-50G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.230-50G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-289-50G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.230-50G>A
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28400
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9796
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

2-219695155-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695155
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695155
    reference: chr 2
allele count: 1
allele frequency: 9.373652537447741e-6
allele num: 106682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.218-51C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.155-51C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.230-51C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.230-51C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.230-51C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.263-51C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-289-51C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.230-51C>T
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22490
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3763
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

2-219695418-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695418
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695418
    reference: chr 2
allele count: 3
allele frequency: 2.550456531719178e-5
allele num: 117626
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.229+51C>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.229+51C>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.262+51C>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.217+63C>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.154+51C>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.229+51C>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-290+63C>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.229+51C>G
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6691
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6312
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

2-219695425-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695425
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695425
    reference: chr 2
allele count: 1
allele frequency: 8.486370888353305e-6
allele num: 117836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.229+44G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.217+56G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.262+44G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.229+44G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.154+44G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.229+44G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-290+56G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.229+44G>A
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/2-219695426-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695426
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695425
    reference: chr 2
allele count: 1
allele frequency: 8.487379267029927e-6
allele num: 117822
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.229+42delG
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.229+42delG
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.262+42delG
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.229+42delG
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-290+54delG
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.229+42delG
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.217+54delG
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.154+42delG
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2595
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: AC
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

2-219695429-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695429
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695429
    reference: chr 2
allele count: 1
allele frequency: 8.471273910170611e-6
allele num: 118046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.229+40G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.154+40G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.229+40G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.262+40G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-290+52G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.229+40G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.229+40G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.217+52G>A
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS

2-219695435-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695435
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695435
    reference: chr 2
allele count: 1
allele frequency: 8.45394291897741e-6
allele num: 118288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.229+34C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.229+34C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.229+34C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.262+34C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-290+46C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.154+34C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.217+46C>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.229+34C>T
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6965
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

2-219695435-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695435
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695435
    reference: chr 2
allele count: 5
allele frequency: 4.226971459488705e-5
allele num: 118288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.262+34C>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.229+34C>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-290+46C>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.229+34C>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.217+46C>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.154+34C>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.229+34C>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.229+34C>G
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6965
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-219695460-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695460
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695460
    reference: chr 2
allele count: 2
allele frequency: 1.656726308813784e-5
allele num: 120720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.229+9A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-290+21A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.217+21A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.229+9A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.262+9A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.229+9A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.154+9A>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.229+9A>G
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

2-219695464-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695464
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695464
    reference: chr 2
allele count: 1
allele frequency: 8.265965712774223e-6
allele num: 120978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.217+17G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.229+5G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.262+5G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.229+5G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-290+17G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.229+5G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.154+5G>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.229+5G>A
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5512
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41042
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: c.229+5G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/2-219695468-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695468
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695468
    reference: chr 2
allele count: 94
allele frequency: 7.763205708433814e-4
allele num: 121084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-290+13G>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.154+1G>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.229+1G>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.229+1G>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.217+13G>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.229+1G>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.262+1G>T
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.229+1G>T
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5421
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5468
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
hgvs: c.229+1G>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

2-219695483-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695483
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695483
    reference: chr 2
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.215C>A
  hgvsp: ENSP00000233944.3:p.Pro72Gln
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.140C>A
  hgvsp: ENSP00000397133.2:p.Pro47Gln
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.215C>A
  hgvsp: ENSP00000419272.2:p.Pro72Gln
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.215C>A
  hgvsp: ENSP00000416100.1:p.Pro72Gln
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.215C>A
  hgvsp: ENSP00000375947.3:p.Pro72Gln
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.248C>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-292C>A
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.215C>A
  hgvsp: ENSP00000436068.1:p.Pro72Gln
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro72Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

2-219695487-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219695487
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219695487
    reference: chr 2
allele count: 21645
allele frequency: 1.783712957774335e-1
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000233944
  ensembl transcript: ENST00000233944
  gene symbol: PRKAG3
  hgvsc: ENST00000233944.3:c.211C>G
  hgvsp: ENSP00000233944.3:p.Pro71Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000444536
  ensembl transcript: ENST00000545803
  gene symbol: PRKAG3
  hgvsc: ENST00000545803.1:c.-296C>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000375947
  ensembl transcript: ENST00000392098
  gene symbol: PRKAG3
  hgvsc: ENST00000392098.3:c.211C>G
  hgvsp: ENSP00000375947.3:p.Pro71Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115592
  ensembl transcript: ENST00000490971
  gene symbol: PRKAG3
  hgvsc: ENST00000490971.1:n.244C>G
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000436068
  ensembl transcript: ENST00000529249
  gene symbol: PRKAG3
  hgvsc: ENST00000529249.1:c.211C>G
  hgvsp: ENSP00000436068.1:p.Pro71Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000416100
  ensembl transcript: ENST00000430489
  gene symbol: PRKAG3
  hgvsc: ENST00000430489.1:c.211C>G
  hgvsp: ENSP00000416100.1:p.Pro71Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000419272
  ensembl transcript: ENST00000470307
  gene symbol: PRKAG3
  hgvsc: ENST00000470307.2:c.211C>G
  hgvsp: ENSP00000419272.2:p.Pro71Ala
  variant of: http://identifiers.org/hgnc/9387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115592
  ensembl protein: ENSP00000397133
  ensembl transcript: ENST00000439262
  gene symbol: PRKAG3
  hgvsc: ENST00000439262.2:c.136C>G
  hgvsp: ENSP00000397133.2:p.Pro46Ala
  variant of: http://identifiers.org/hgnc/9387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 2.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 8.25e1
  variant carriers: 693
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 6.75e1
  variant carriers: 463
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 3.75e1
  variant carriers: 235
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 3.25e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 14214
  bin: 9.75e1
  variant carriers: 12996
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 4.25e1
  variant carriers: 341
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 5.75e1
  variant carriers: 382
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4817
  bin: 5.25e1
  variant carriers: 394
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 6.25e1
  variant carriers: 377
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 8.75e1
  variant carriers: 730
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 7.75e1
  variant carriers: 587
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 9.25e1
  variant carriers: 931
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 2.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 4.75e1
  variant carriers: 388
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 7.25e1
  variant carriers: 505
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro71Ala
num of homozygotes: 2326
population: Other
population: East Asian
reference allele: G

GenotypeQuality
all individuals: 530
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42800
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1802
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65902
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.780907668231612e-5
allele num: 10224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.83e-1

DP
type: SiteQuality
SIO_000300: 1.407159e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.054e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 2.161e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.169e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.23e-1

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6516
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42859
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 9.75e1
variant carriers: 36

GenotypeQuality
all individuals: 444
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1801
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1910
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

South Asian
type: Population
allele count: 38
allele frequency: 2.309188138065143e-3
allele num: 16456
num of homozygotes: 1

QD
type: SiteQuality
SIO_000300: 1.334e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.496e0

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

DP
type: SiteQuality
SIO_000300: 1.407267e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

GenotypeQuality
all individuals: 422
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6507
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1915
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.897e1

FS
type: SiteQuality
SIO_000300: 2.188e0

VQSLOD
type: SiteQuality
SIO_000300: -1.056e-1

QD
type: SiteQuality
SIO_000300: 1.471e1

DP
type: SiteQuality
SIO_000300: 1.405462e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.191e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

GenotypeQuality
all individuals: 550
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1922
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.923107100823852e-4
allele num: 10196
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.335e1

DP
type: SiteQuality
SIO_000300: 1.404508e6

MQRankSum
type: SiteQuality
SIO_000300: 6.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

FS
type: SiteQuality
SIO_000300: 2.525e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.255e0

GenotypeQuality
all individuals: 762
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6476
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41180
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1784
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1916
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65698
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.83477576711251e-5
allele num: 10168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.82e0

QD
type: SiteQuality
SIO_000300: 8.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

VQSLOD
type: SiteQuality
SIO_000300: -2.415e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.402144e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1796
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.957996450404259e-4
allele num: 10142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.96e-1

DP
type: SiteQuality
SIO_000300: 1.403381e6

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.283e1

FS
type: SiteQuality
SIO_000300: 6.786e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

GenotypeQuality
all individuals: 1950
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41731
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524343770007012e-5
allele num: 65602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 6.786e0

QD
type: SiteQuality
SIO_000300: 1.283e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.96e-1

DP
type: SiteQuality
SIO_000300: 1.403381e6

GenotypeQuality
all individuals: 1069
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 527
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1804
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526437904506045e-5
allele num: 65512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 4.544e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.815e0

QD
type: SiteQuality
SIO_000300: 1.212e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.91e-1

DP
type: SiteQuality
SIO_000300: 1.403505e6

VQSLOD
type: SiteQuality
SIO_000300: 1.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 730
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2134
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

QD
type: SiteQuality
SIO_000300: 1.208e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.021e-1

DP
type: SiteQuality
SIO_000300: 1.40363e6

MQ
type: SiteQuality
SIO_000300: 5.858e1

GenotypeQuality
all individuals: 431
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 40907
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.476e1

DP
type: SiteQuality
SIO_000300: 1.403086e6

FS
type: SiteQuality
SIO_000300: 5.382e0

VQSLOD
type: SiteQuality
SIO_000300: 3.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.924e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

GenotypeQuality
all individuals: 1088
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 732
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 639
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variant carriers: 0

GenotypeQuality
all individuals: 1955
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

South Asian
type: Population
allele count: 19
allele frequency: 1.156561967372778e-3
allele num: 16428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65390
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 1.402942e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-1

QD
type: SiteQuality
SIO_000300: 1.196e1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.862e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 6504
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1972
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 761
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 468
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variant carriers: 0

GenotypeQuality
all individuals: 1836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6210
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.218472036066772e-4
allele num: 16414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.401498e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.763e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.426e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.59e-1

FS
type: SiteQuality
SIO_000300: 9.913e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.495e1

GenotypeQuality
all individuals: 1081
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 6479
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 752
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variant carriers: 0

GenotypeQuality
all individuals: 1836
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variant carriers: 0

GenotypeQuality
all individuals: 427
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variant carriers: 0

GenotypeQuality
all individuals: 1041
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variant carriers: 0

GenotypeQuality
all individuals: 800
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variant carriers: 0

GenotypeQuality
all individuals: 1963
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variant carriers: 0

GenotypeQuality
all individuals: 2490
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.984440454817474e-4
allele num: 10026
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.812e0

FS
type: SiteQuality
SIO_000300: 4.279e0

DP
type: SiteQuality
SIO_000300: 1.400697e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

QD
type: SiteQuality
SIO_000300: 1.07e1

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
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variant carriers: 0

GenotypeQuality
all individuals: 820
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 9.75e1
variant carriers: 43

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 906
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variant carriers: 0

GenotypeQuality
all individuals: 1962
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 41
allele frequency: 4.094268024765329e-3
allele num: 10014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.703220191470844e-5
allele num: 11490
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.322e1

DP
type: SiteQuality
SIO_000300: 1.400527e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.863e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

GenotypeQuality
all individuals: 1858
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 122
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 805
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variant carriers: 0

GenotypeQuality
all individuals: 425
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GenotypeQuality
all individuals: 6425
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1081
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variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
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variant carriers: 0

GenotypeQuality
all individuals: 1967
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535909565644775e-5
allele num: 65108
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.387e0

DP
type: SiteQuality
SIO_000300: 1.402767e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.507e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.11e-1

QD
type: SiteQuality
SIO_000300: 1.01e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1978
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535673700052213e-5
allele num: 65118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.129e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

DP
type: SiteQuality
SIO_000300: 1.402887e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
all individuals: 130
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 269
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GenotypeQuality
all individuals: 40137
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.003009027081244e-4
allele num: 9970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e-1

FS
type: SiteQuality
SIO_000300: 6.219e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.9e0

DP
type: SiteQuality
SIO_000300: 1.403418e6

QD
type: SiteQuality
SIO_000300: 1.687e1

GenotypeQuality
all individuals: 129
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6146
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.004016064257028e-4
allele num: 9960
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.153e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.418e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.514e-1

DP
type: SiteQuality
SIO_000300: 1.402824e6

MQ
type: SiteQuality
SIO_000300: 5.84e1

GenotypeQuality
all individuals: 412
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
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variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65034
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.006238679814852e-4
allele num: 9938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

DP
type: SiteQuality
SIO_000300: 1.402607e6

QD
type: SiteQuality
SIO_000300: 1.116e1

FS
type: SiteQuality
SIO_000300: 1.082e0

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.27e-1

GenotypeQuality
all individuals: 471
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2842
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 39585
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540215014015957e-5
allele num: 64926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 5.035e0

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

QD
type: SiteQuality
SIO_000300: 1.412e1

DP
type: SiteQuality
SIO_000300: 1.401353e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
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GenotypeQuality
all individuals: 1994
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variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
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variant carriers: 1

GenotypeQuality
all individuals: 685
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6470
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6132
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165772907437631e-4
allele num: 8578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64880
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.7e-1

FS
type: SiteQuality
SIO_000300: 7.448e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.533e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.467e0

VQSLOD
type: SiteQuality
SIO_000300: -9.113e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 1.400524e6

GenotypeQuality
all individuals: 973
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
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variant carriers: 0

GenotypeQuality
all individuals: 1089
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 1058
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 38409
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variant carriers: 0

GenotypeQuality
all individuals: 529
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variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.129704548240775e-5
allele num: 16314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.092e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.141e0

DP
type: SiteQuality
SIO_000300: 1.402523e6

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

QD
type: SiteQuality
SIO_000300: 1.458e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

GenotypeQuality
all individuals: 6538
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
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variant carriers: 0

GenotypeQuality
all individuals: 1951
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variant carriers: 0

GenotypeQuality
all individuals: 2026
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variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39200
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.09319805747162e-5
allele num: 64658
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6098
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 1.373e1

DP
type: SiteQuality
SIO_000300: 1.404111e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 6.043e1

VQSLOD
type: SiteQuality
SIO_000300: 2.68e0

GenotypeQuality
all individuals: 830
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 728
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6084
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.150818058801821e-5
allele num: 16258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

FS
type: SiteQuality
SIO_000300: 1.339e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.95e-1

DP
type: SiteQuality
SIO_000300: 1.407508e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.283e1

GenotypeQuality
all individuals: 515
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variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 830
bin: 3.25e1
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GenotypeQuality
all individuals: 1954
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 1105
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39444
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.150818058801821e-5
allele num: 16258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549042691616581e-5
allele num: 64556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6084
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.716875871687587e-5
allele num: 11472
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

QD
type: SiteQuality
SIO_000300: 1.283e1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

DP
type: SiteQuality
SIO_000300: 1.407508e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 1.339e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 544
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
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GenotypeQuality
all individuals: 104
bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1967
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1106
bin: 9.75e1
variant carriers: 4

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.072968490878939e-4
allele num: 9648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549090683768628e-5
allele num: 64554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.719916288803627e-5
allele num: 11468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

DP
type: SiteQuality
SIO_000300: 1.407568e6

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 1.245e1

FS
type: SiteQuality
SIO_000300: 3.812e0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 489
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variant carriers: 0

GenotypeQuality
all individuals: 27
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GenotypeQuality
all individuals: 3068
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GenotypeQuality
all individuals: 422
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GenotypeQuality
all individuals: 615
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GenotypeQuality
all individuals: 79
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GenotypeQuality
all individuals: 6592
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GenotypeQuality
all individuals: 39812
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variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2041
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 272
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6088
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.614151272220286e-4
allele num: 11476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64524
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.409216e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

QD
type: SiteQuality
SIO_000300: 1.177e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 1.3904e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.725e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.684e0

MQRankSum
type: SiteQuality
SIO_000300: -2.16e-1

GenotypeQuality
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39824
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6604
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2043
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6088
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.715356458079135e-5
allele num: 11474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64530
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.05e1

MQRankSum
type: SiteQuality
SIO_000300: -9.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 1.202e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.329e0

DP
type: SiteQuality
SIO_000300: 1.408984e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
all individuals: 2009
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40119
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2064
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6094
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.497318722312894e-4
allele num: 8578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64536
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.175e1

FS
type: SiteQuality
SIO_000300: 6.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.867e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.252e0

DP
type: SiteQuality
SIO_000300: 1.409524e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

GenotypeQuality
all individuals: 235
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40080
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
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variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6619
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 9.75e1
variant carriers: 6

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.301171947665406e-5
allele num: 64508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6088
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16140
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

QD
type: SiteQuality
SIO_000300: 1.086e1

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 5.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

DP
type: SiteQuality
SIO_000300: 1.409131e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e-1

GenotypeQuality
all individuals: 1995
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 674
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39966
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
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variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
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variant carriers: 0

GenotypeQuality
all individuals: 2050
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6581
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.486142583231654e-4
allele num: 11474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6070
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

DP
type: SiteQuality
SIO_000300: 1.406705e6

QD
type: SiteQuality
SIO_000300: 1.505e1

FS
type: SiteQuality
SIO_000300: 1.294e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 290
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3338
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2049
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 493
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40212
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6625
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.279040562602035e-5
allele num: 15926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64142
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.256e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

FS
type: SiteQuality
SIO_000300: 8.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

DP
type: SiteQuality
SIO_000300: 1.405515e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.073e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.907e1

VQSLOD
type: SiteQuality
SIO_000300: 2.83e-1

GenotypeQuality
all individuals: 369
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6614
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3367
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2054
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6076
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559770401796856e-5
allele num: 64112
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e0

FS
type: SiteQuality
SIO_000300: 2.373e0

QD
type: SiteQuality
SIO_000300: 1.289e1

DP
type: SiteQuality
SIO_000300: 1.403849e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

GenotypeQuality
all individuals: 635
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 4.25e1
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GenotypeQuality
all individuals: 1130
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39845
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 645
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2010
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.063603488619443e-4
allele num: 9402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64062
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: -8.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.107e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.78e0

DP
type: SiteQuality
SIO_000300: 1.403896e6

VQSLOD
type: SiteQuality
SIO_000300: -4.095e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.762e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39990
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6592
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3437
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1116
bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.376e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 2.903e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

DP
type: SiteQuality
SIO_000300: 1.404226e6

QD
type: SiteQuality
SIO_000300: 2.497e1

GenotypeQuality
all individuals: 2010
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3465
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 423
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40064
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64024
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.065643648763853e-4
allele num: 9384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.278e0

VQSLOD
type: SiteQuality
SIO_000300: -1.946e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 7.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.319e0

MQ
type: SiteQuality
SIO_000300: 5.873e1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

DP
type: SiteQuality
SIO_000300: 1.403812e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.426e0

GenotypeQuality
all individuals: 461
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6596
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1142
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2055
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39912
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566857823321112e-5
allele num: 63822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6062
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.554e0

VQSLOD
type: SiteQuality
SIO_000300: 3.62e-1

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

DP
type: SiteQuality
SIO_000300: 1.399518e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e-1

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39569
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3631
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6579
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1142
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.144555202666583e-5
allele num: 63602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

DP
type: SiteQuality
SIO_000300: 1.394581e6

QD
type: SiteQuality
SIO_000300: 1.257e1

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.953e0

FS
type: SiteQuality
SIO_000300: 1.0971e1

GenotypeQuality
all individuals: 831
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2036
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 403
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6575
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.576988582602662e-5
allele num: 63412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9040
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6044
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-1

DP
type: SiteQuality
SIO_000300: 1.391624e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: -8.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

QD
type: SiteQuality
SIO_000300: 1.13e1

GenotypeQuality
all individuals: 204
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 190
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39330
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6044
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577834579822651e-5
allele num: 63378
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.6e-1

DP
type: SiteQuality
SIO_000300: 1.391437e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.621e0

FS
type: SiteQuality
SIO_000300: 8.19e0

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

GenotypeQuality
all individuals: 371
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2029
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6545
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1155
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39508
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2030
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.328713372571356e-5
allele num: 63204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.243158366980709e-4
allele num: 8916
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15392
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.106e0

QD
type: SiteQuality
SIO_000300: 1.099e1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 1.389718e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

GenotypeQuality
all individuals: 555
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2029
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6545
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 181
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39508
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8916
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172332942555686e-4
allele num: 8530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63204
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 1.099e1

FS
type: SiteQuality
SIO_000300: 1.106e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

DP
type: SiteQuality
SIO_000300: 1.389718e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

GenotypeQuality
all individuals: 458
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 553
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1233
bin: 9.75e1
variant carriers: 120

GenotypeQuality
all individuals: 3560
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39389
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2023
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1142
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6526
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2022
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.247696111485727e-4
allele num: 8898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 104
allele frequency: 1.646351116036093e-3
allele num: 63170
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.386634844868735e-3
allele num: 838
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.724480893386844e-5
allele num: 11462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 13
allele frequency: 2.150893448047651e-3
allele num: 6044
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15338
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.219e1

VQSLOD
type: SiteQuality
SIO_000300: 5.24e0

DP
type: SiteQuality
SIO_000300: 1.392393e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

GenotypeQuality
all individuals: 214
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6526
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2023
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1142
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39389
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1233
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 293
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.519754857217368e-5
allele num: 15338
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6044
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

DP
type: SiteQuality
SIO_000300: 1.392393e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

QD
type: SiteQuality
SIO_000300: 1.219e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8802
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.640106241699867e-5
allele num: 15060
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.57e0

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.704e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

DP
type: SiteQuality
SIO_000300: 1.380848e6

QD
type: SiteQuality
SIO_000300: 1.287e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.596220150683182e-5
allele num: 62648
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.327e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.476e0

VQSLOD
type: SiteQuality
SIO_000300: -1.838e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 1.375039e6

QD
type: SiteQuality
SIO_000300: 2.099e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.363884342607747e-4
allele num: 14664
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: -2.637e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: 5.14e-1

FS
type: SiteQuality
SIO_000300: 6.043e0

DP
type: SiteQuality
SIO_000300: 1.368874e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.756567425569177e-5
allele num: 11420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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South Asian
type: Population
allele count: 2
allele frequency: 1.369487811558477e-4
allele num: 14604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

QD
type: SiteQuality
SIO_000300: 1.289e1

VQSLOD
type: SiteQuality
SIO_000300: 3.79e-1

DP
type: SiteQuality
SIO_000300: 1.368258e6

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

FS
type: SiteQuality
SIO_000300: 1.097e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5980
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

Latino
type: Population
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allele frequency: 8.753501400560224e-5
allele num: 11424
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62426
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.68e-1

FS
type: SiteQuality
SIO_000300: 3.035e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.205230936889003e-5
allele num: 62398
num of homozygotes: 0

Other
type: Population
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allele num: 820
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South Asian
type: Population
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5980
num of homozygotes: 0

QD
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.207e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 62310
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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num of homozygotes: 0

African
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East Asian
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allele num: 8504
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Latino
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allele num: 11414
num of homozygotes: 0

South Asian
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FS
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.608544588856003e-5
allele num: 62168
num of homozygotes: 0

South Asian
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European (Finnish)
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African
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Other
type: Population
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Latino
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MQRankSum
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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QD
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InbreedingCoeff
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DP
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VQSLOD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.176193836744295e-4
allele num: 8502
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
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QD
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MQ
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DP
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.615978798358166e-5
allele num: 61882
num of homozygotes: 0

African
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South Asian
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FS
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ReadPosRankSum
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DP
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MQ
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MQRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5910
num of homozygotes: 0

Latino
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allele frequency: 8.799718409010911e-5
allele num: 11364
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61866
num of homozygotes: 0

South Asian
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allele frequency: 4.415660877244627e-4
allele num: 13588
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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QD
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 1
allele frequency: 1.176470588235294e-4
allele num: 8500
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61788
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -7.368e-1

InbreedingCoeff
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QD
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BaseQRankSum
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SIO_000300: -4.79e-1

MQRankSum
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DP
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.181e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

African
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allele count: 10
allele frequency: 1.180637544273908e-3
allele num: 8470
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.634200549091385e-5
allele num: 61192
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
SIO_000300: 6.29e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

MQ
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 3.38e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.816753926701571e-5
allele num: 61120
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
type: Population
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South Asian
type: Population
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allele num: 11852
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FS
type: SiteQuality
SIO_000300: 6.94e-1

ClippingRankSum
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VQSLOD
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MQ
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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QD
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 11444
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European (Finnish)
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African
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East Asian
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Latino
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European (Non-Finnish)
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allele frequency: 1.642036124794745e-5
allele num: 60900
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Other
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ReadPosRankSum
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QD
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MQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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East Asian
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African
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Other
type: Population
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allele num: 750
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European (Non-Finnish)
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European (Finnish)
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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MQ
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DP
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VQSLOD
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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African
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European (Non-Finnish)
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Other
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East Asian
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ClippingRankSum
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MQ
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QD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.517957436473481e-5
allele num: 65878
num of homozygotes: 0

South Asian
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FS
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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QD
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MQ
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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Latino
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allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.518233990222573e-5
allele num: 65866
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

VQSLOD
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FS
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ReadPosRankSum
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DP
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InbreedingCoeff
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QD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.516990291262136e-5
allele num: 65920
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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MQRankSum
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SIO_000300: 6.0e-1

ClippingRankSum
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DP
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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MQ
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FS
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 14304
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

QD
type: SiteQuality
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ReadPosRankSum
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DP
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SIO_000300: 2.938838e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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SIO_000300: 7.52e-1

VQSLOD
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BaseQRankSum
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SIO_000300: 1.76e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.57621674040851e-5
allele num: 65996
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 14304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.938838e6

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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Latino
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South Asian
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allele frequency: 1.244400199104032e-4
allele num: 16072
num of homozygotes: 0

African
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allele frequency: 0.0e0
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MQ
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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VQSLOD
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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Other
type: Population
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allele frequency: 0.0e0
allele num: 900
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.154603643525357e-5
allele num: 16248
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQ
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QD
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MQRankSum
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FS
type: SiteQuality
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ClippingRankSum
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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European (Finnish)
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

Other
type: Population
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European (Non-Finnish)
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allele frequency: 1.501005673801447e-5
allele num: 66622
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South Asian
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East Asian
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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MQ
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FS
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VQSLOD
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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East Asian
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

MQ
type: SiteQuality
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QD
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 47963
bin: 9.75e1
variant carriers: 19283

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1651
bin: 9.25e1
variant carriers: 8

GenotypeQuality
all individuals: 1706
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3740
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 150
allele frequency: 1.651982378854626e-1
allele num: 908
num of homozygotes: 13

East Asian
type: Population
allele count: 3700
allele frequency: 4.291347715147298e-1
allele num: 8622
num of homozygotes: 771