16-31144676-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31144676
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31144676
    reference: chr 16
allele count: 1
allele frequency: 8.320021299254527e-6
allele num: 120192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.119C>T
  hgvsp: ENSP00000458056.1:p.Thr40Ile
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.137C>T
  hgvsp: ENSP00000319730.6:p.Thr46Ile
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.137C>T
  hgvsp: ENSP00000457673.1:p.Thr46Ile
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.366C>T
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.137C>T
  hgvsp: ENSP00000457750.1:p.Thr46Ile
  variant of: http://identifiers.org/hgnc/9491
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6383
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr46Ile
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

16-31144680-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31144680
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31144680
    reference: chr 16
allele count: 1
allele frequency: 8.323345318950592e-6
allele num: 120144
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.133A>G
  hgvsp: ENSP00000319730.6:p.Ile45Val
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.115A>G
  hgvsp: ENSP00000458056.1:p.Ile39Val
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.362A>G
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.133A>G
  hgvsp: ENSP00000457673.1:p.Ile45Val
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.133A>G
  hgvsp: ENSP00000457750.1:p.Ile45Val
  variant of: http://identifiers.org/hgnc/9491
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47785
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 266
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genotype quality: GenotypeQuality
  all individuals: 50
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genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile45Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

16-31144682-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31144682
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31144682
    reference: chr 16
allele count: 1
allele frequency: 8.327504080476999e-6
allele num: 120084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.131G>A
  hgvsp: ENSP00000457673.1:p.Arg44His
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.131G>A
  hgvsp: ENSP00000319730.6:p.Arg44His
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.113G>A
  hgvsp: ENSP00000458056.1:p.Arg38His
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.131G>A
  hgvsp: ENSP00000457750.1:p.Arg44His
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.360G>A
  variant of: http://identifiers.org/hgnc/9491
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg44His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD

16-31144685-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31144685
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31144685
    reference: chr 16
allele count: 1
allele frequency: 8.332361224523806e-6
allele num: 120014
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.128C>T
  hgvsp: ENSP00000319730.6:p.Ala43Val
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.110C>T
  hgvsp: ENSP00000458056.1:p.Ala37Val
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.357C>T
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.128C>T
  hgvsp: ENSP00000457673.1:p.Ala43Val
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.128C>T
  hgvsp: ENSP00000457750.1:p.Ala43Val
  variant of: http://identifiers.org/hgnc/9491
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22597
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6341
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala43Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

16-31144687-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31144687
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31144687
    reference: chr 16
allele count: 1
allele frequency: 8.334444592612349e-6
allele num: 119984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.355A>G
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.126A>G
  hgvsp: ENST00000568261.1:c.126A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.108A>G
  hgvsp: ENST00000567797.1:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.126A>G
  hgvsp: ENST00000567531.1:c.126A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.126A>G
  hgvsp: ENST00000317508.6:c.126A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9491
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28867
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln42Gln
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

16-31144688-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31144688
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31144689
    reference: chr 16
allele count: 1
allele frequency: 8.339031671642289e-6
allele num: 119918
alternate allele: TG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.124dupC
  hgvsp: ENSP00000319730.6:p.Gln42ProfsTer24
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.353dupC
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.124dupC
  hgvsp: ENSP00000457673.1:p.Gln42ProfsTer24
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.106dupC
  hgvsp: ENSP00000458056.1:p.Gln36ProfsTer24
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.124dupC
  hgvsp: ENSP00000457750.1:p.Gln42ProfsTer104
  variant of: http://identifiers.org/hgnc/9491
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28810
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22578
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln42ProfsTer24
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

16-31144692-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31144692
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31144692
    reference: chr 16
allele count: 1
allele frequency: 8.351149118118652e-6
allele num: 119744
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.121C>A
  hgvsp: ENSP00000319730.6:p.Pro41Thr
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.121C>A
  hgvsp: ENSP00000457673.1:p.Pro41Thr
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.103C>A
  hgvsp: ENSP00000458056.1:p.Pro35Thr
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.121C>A
  hgvsp: ENSP00000457750.1:p.Pro41Thr
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.350C>A
  variant of: http://identifiers.org/hgnc/9491
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22538
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro41Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

16-31144695-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31144695
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31144695
    reference: chr 16
allele count: 2
allele frequency: 1.671653767071764e-5
allele num: 119642
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.118G>A
  hgvsp: ENSP00000319730.6:p.Ala40Thr
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.100G>A
  hgvsp: ENSP00000458056.1:p.Ala34Thr
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.118G>A
  hgvsp: ENSP00000457673.1:p.Ala40Thr
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.118G>A
  hgvsp: ENSP00000457750.1:p.Ala40Thr
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.347G>A
  variant of: http://identifiers.org/hgnc/9491
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala40Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

16-31144696-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31144696
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31144696
    reference: chr 16
allele count: 1
allele frequency: 8.360225391676559e-6
allele num: 119614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.99G>A
  hgvsp: ENST00000567797.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.117G>A
  hgvsp: ENST00000568261.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.117G>A
  hgvsp: ENST00000567531.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.346G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.117G>A
  hgvsp: ENST00000317508.6:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9491
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47026
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val39Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

16-31144702-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31144702
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31144702
    reference: chr 16
allele count: 2
allele frequency: 1.679543164259321e-5
allele num: 119080
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.111C>T
  hgvsp: ENST00000317508.6:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.111C>T
  hgvsp: ENST00000567531.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.93C>T
  hgvsp: ENST00000567797.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.111C>T
  hgvsp: ENST00000568261.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.340C>T
  variant of: http://identifiers.org/hgnc/9491
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6068
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys37Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

16-31144712-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31144712
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31144712
    reference: chr 16
allele count: 1
allele frequency: 8.452228007302725e-6
allele num: 118312
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.104-3C>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.86-3C>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.104-3C>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.333-3C>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.104-3C>A
  variant of: http://identifiers.org/hgnc/9491
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
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genotype quality: GenotypeQuality
  all individuals: 2767
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genotype quality: GenotypeQuality
  all individuals: 44463
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genotype quality: GenotypeQuality
  all individuals: 665
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 5883
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
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genotype quality: GenotypeQuality
  all individuals: 141
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 8.25e1
  variant carriers: 0
hgvs: c.104-3C>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

16-31144713-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31144713
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31144713
    reference: chr 16
allele count: 1
allele frequency: 8.451942256330504e-6
allele num: 118316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.104-4G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.333-4G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.104-4G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.86-4G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.104-4G>A
  variant of: http://identifiers.org/hgnc/9491
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21779
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
hgvs: c.104-4G>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

16-31144714-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31144714
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31144714
    reference: chr 16
allele count: 11
allele frequency: 9.309726124784183e-5
allele num: 118156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.86-5G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.104-5G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.333-5G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.104-5G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.104-5G>A
  variant of: http://identifiers.org/hgnc/9491
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26493
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44473
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
hgvs: c.104-5G>A
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

16-31144726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31144726
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31144726
    reference: chr 16
allele count: 4
allele frequency: 3.429884584383736e-5
allele num: 116622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.333-17C>T
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.86-17C>T
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.104-17C>T
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.104-17C>T
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.104-17C>T
  variant of: http://identifiers.org/hgnc/9491
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19673
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5485
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

16-31144735-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31144735
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31144735
    reference: chr 16
allele count: 2
allele frequency: 1.734545202247971e-5
allele num: 115304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.333-26G>C
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.104-26G>C
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.104-26G>C
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.104-26G>C
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.86-26G>C
  variant of: http://identifiers.org/hgnc/9491
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16637
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3897
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7903
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4485
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

16-31144736-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31144736
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31144736
    reference: chr 16
allele count: 3
allele frequency: 2.603940630153633e-5
allele num: 115210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.104-27T>C
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.104-27T>C
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.333-27T>C
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.104-27T>C
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.86-27T>C
  variant of: http://identifiers.org/hgnc/9491
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11161
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4427
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30971
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
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: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

16-31144736-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31144736
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31144735
    reference: chr 16
allele count: 9
allele frequency: 7.811821890460897e-5
allele num: 115210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.333-28delC
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.86-28delC
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.104-28delC
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.104-28delC
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.104-28delC
  variant of: http://identifiers.org/hgnc/9491
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11161
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16216
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18783
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30971
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 8137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: AG
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

16-31144747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31144747
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31144747
    reference: chr 16
allele count: 1
allele frequency: 8.847834934791456e-6
allele num: 113022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.86-38G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.333-38G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.104-38G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.104-38G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.104-38G>A
  variant of: http://identifiers.org/hgnc/9491
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14987
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12650
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7500
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4624
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9354
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

http://identifiers.org/exac.variant/16-31144753-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31144753
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31144753
    reference: chr 16
allele count: 1
allele frequency: 8.927296100557064e-6
allele num: 112016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.104-44T>G
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.333-44T>G
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.104-44T>G
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.86-44T>G
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.104-44T>G
  variant of: http://identifiers.org/hgnc/9491
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8229
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4881
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2667
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7555
  bin: 3.75e1
  variant carriers: 0
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: A
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

16-31144759-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31144759
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31144759
    reference: chr 16
allele count: 1
allele frequency: 9.023153411654306e-6
allele num: 110826
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.86-50T>C
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.333-50T>C
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.104-50T>C
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.104-50T>C
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.104-50T>C
  variant of: http://identifiers.org/hgnc/9491
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17264
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8365
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8726
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4877
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5247
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-31146425-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31146425
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31146425
    reference: chr 16
allele count: 1
allele frequency: 9.439839900315291e-6
allele num: 105934
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.85+310C>G
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.103+50C>G
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.332+50C>G
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.103+50C>G
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000567833
  gene symbol: PRSS8
  hgvsc: ENST00000567833.1:n.358C>G
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.103+50C>G
  variant of: http://identifiers.org/hgnc/9491
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12683
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8978
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4816
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7488
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4600
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

16-31146437-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31146437
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31146437
    reference: chr 16
allele count: 1
allele frequency: 9.386850899260316e-6
allele num: 106532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000567833
  gene symbol: PRSS8
  hgvsc: ENST00000567833.1:n.346G>C
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.103+38G>C
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.332+38G>C
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.103+38G>C
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.85+298G>C
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.103+38G>C
  variant of: http://identifiers.org/hgnc/9491
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17295
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20197
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4810
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS

16-31146437-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31146437
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31146437
    reference: chr 16
allele count: 2
allele frequency: 1.877370179852063e-5
allele num: 106532
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.103+38G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.103+38G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.332+38G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000567833
  gene symbol: PRSS8
  hgvsc: ENST00000567833.1:n.346G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.85+298G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.103+38G>A
  variant of: http://identifiers.org/hgnc/9491
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17295
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4413
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 20197
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4810
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 8431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

16-31146439-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31146439
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31146439
    reference: chr 16
allele count: 1
allele frequency: 9.380159087498124e-6
allele num: 106608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.85+296G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000567833
  gene symbol: PRSS8
  hgvsc: ENST00000567833.1:n.344G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.332+36G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.103+36G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.103+36G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.103+36G>A
  variant of: http://identifiers.org/hgnc/9491
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4500
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3314
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

16-31146444-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31146444
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31146444
    reference: chr 16
allele count: 6
allele frequency: 5.616925669350309e-5
allele num: 106820
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.103+31A>G
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.103+31A>G
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.332+31A>G
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000567833
  gene symbol: PRSS8
  hgvsc: ENST00000567833.1:n.339A>G
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.85+291A>G
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.103+31A>G
  variant of: http://identifiers.org/hgnc/9491
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20191
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4480
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3696
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

16-31146445-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31146445
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 31146445
    reference: chr 16
allele count: 2
allele frequency: 1.86898420708345e-5
allele num: 107010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457750
  ensembl transcript: ENST00000568261
  gene symbol: PRSS8
  hgvsc: ENST00000568261.1:c.103+30G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000458056
  ensembl transcript: ENST00000567797
  gene symbol: PRSS8
  hgvsc: ENST00000567797.1:c.85+290G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000564025
  gene symbol: PRSS8
  hgvsc: ENST00000564025.1:n.332+30G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000052344
  ensembl transcript: ENST00000567833
  gene symbol: PRSS8
  hgvsc: ENST00000567833.1:n.338G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000319730
  ensembl transcript: ENST00000317508
  gene symbol: PRSS8
  hgvsc: ENST00000317508.6:c.103+30G>A
  variant of: http://identifiers.org/hgnc/9491
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052344
  ensembl protein: ENSP00000457673
  ensembl transcript: ENST00000567531
  gene symbol: PRSS8
  hgvsc: ENST00000567531.1:c.103+30G>A
  variant of: http://identifiers.org/hgnc/9491
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20895
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4363
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25002
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

19-55489126-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489126
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489126
    reference: chr 19
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.332C>G
  hgvsp: ENSP00000445135.1:p.Thr111Arg
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.332C>G
  hgvsp: ENSP00000466260.1:p.Thr111Arg
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.332C>G
  hgvsp: ENSP00000443519.1:p.Thr111Arg
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3214C>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.263C>G
  hgvsp: ENSP00000402474.2:p.Thr88Arg
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.128C>G
  hgvsp: ENSP00000441363.2:p.Thr43Arg
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.332C>G
  hgvsp: ENSP00000409370.2:p.Thr111Arg
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.125C>G
  hgvsp: ENSP00000467349.1:p.Thr42Arg
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3214C>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*101C>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.332C>G
  hgvsp: ENSP00000263437.6:p.Thr111Arg
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.332C>G
  hgvsp: ENSP00000440601.1:p.Thr111Arg
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000465069
  ensembl transcript: ENST00000588107
  gene symbol: NLRP2
  hgvsc: ENST00000588107.1:c.332C>G
  hgvsp: ENSP00000465069.1:p.Thr111Arg
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.442C>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.332C>G
  hgvsp: ENSP00000344074.7:p.Thr111Arg
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr111Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

19-55489127-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489127
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489127
    reference: chr 19
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.333A>T
  hgvsp: ENST00000543010.1:c.333A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.333A>T
  hgvsp: ENST00000448584.2:c.333A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000465069
  ensembl transcript: ENST00000588107
  gene symbol: NLRP2
  hgvsc: ENST00000588107.1:c.333A>T
  hgvsp: ENST00000588107.1:c.333A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.333A>T
  hgvsp: ENST00000588619.1:c.333A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.126A>T
  hgvsp: ENST00000585500.1:c.126A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.443A>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.129A>T
  hgvsp: ENST00000397169.3:c.129A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.333A>T
  hgvsp: ENST00000433772.2:c.333A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.264A>T
  hgvsp: ENST00000427260.2:c.264A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.333A>T
  hgvsp: ENST00000263437.6:c.333A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3215A>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.333A>T
  hgvsp: ENST00000339757.7:c.333A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*102A>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3215A>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.333A>T
  hgvsp: ENST00000537859.1:c.333A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr111Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-55489129-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489129
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489129
    reference: chr 19
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.335G>A
  hgvsp: ENSP00000440601.1:p.Arg112Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.131G>A
  hgvsp: ENSP00000441363.2:p.Arg44Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3217G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000465069
  ensembl transcript: ENST00000588107
  gene symbol: NLRP2
  hgvsc: ENST00000588107.1:c.335G>A
  hgvsp: ENSP00000465069.1:p.Arg112Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.128G>A
  hgvsp: ENSP00000467349.1:p.Arg43Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.266G>A
  hgvsp: ENSP00000402474.2:p.Arg89Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.335G>A
  hgvsp: ENSP00000263437.6:p.Arg112Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.335G>A
  hgvsp: ENSP00000445135.1:p.Arg112Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*104G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.335G>A
  hgvsp: ENSP00000409370.2:p.Arg112Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.335G>A
  hgvsp: ENSP00000443519.1:p.Arg112Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.335G>A
  hgvsp: ENSP00000344074.7:p.Arg112Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.335G>A
  hgvsp: ENSP00000466260.1:p.Arg112Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3217G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.445G>A
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg112Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

19-55489137-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489137
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489137
    reference: chr 19
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*112C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.343C>T
  hgvsp: ENSP00000409370.2:p.Arg115Ter
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.343C>T
  hgvsp: ENSP00000466260.1:p.Arg115Ter
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.343C>T
  hgvsp: ENSP00000445135.1:p.Arg115Ter
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.343C>T
  hgvsp: ENSP00000344074.7:p.Arg115Ter
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.343C>T
  hgvsp: ENSP00000263437.6:p.Arg115Ter
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3225C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.343C>T
  hgvsp: ENSP00000440601.1:p.Arg115Ter
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.139C>T
  hgvsp: ENSP00000441363.2:p.Arg47Ter
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.274C>T
  hgvsp: ENSP00000402474.2:p.Arg92Ter
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.136C>T
  hgvsp: ENSP00000467349.1:p.Arg46Ter
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.453C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.343C>T
  hgvsp: ENSP00000443519.1:p.Arg115Ter
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3225C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000465069
  ensembl transcript: ENST00000588107
  gene symbol: NLRP2
  hgvsc: ENST00000588107.1:c.343C>T
  hgvsp: ENSP00000465069.1:p.Arg115Ter
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg115Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

19-55489138-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489138
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489138
    reference: chr 19
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.344G>A
  hgvsp: ENSP00000344074.7:p.Arg115Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3226G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3226G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.140G>A
  hgvsp: ENSP00000441363.2:p.Arg47Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.344G>A
  hgvsp: ENSP00000409370.2:p.Arg115Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.275G>A
  hgvsp: ENSP00000402474.2:p.Arg92Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.344G>A
  hgvsp: ENSP00000466260.1:p.Arg115Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.344G>A
  hgvsp: ENSP00000443519.1:p.Arg115Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.137G>A
  hgvsp: ENSP00000467349.1:p.Arg46Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000465069
  ensembl transcript: ENST00000588107
  gene symbol: NLRP2
  hgvsc: ENST00000588107.1:c.344G>A
  hgvsp: ENSP00000465069.1:p.Arg115Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.344G>A
  hgvsp: ENSP00000263437.6:p.Arg115Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.344G>A
  hgvsp: ENSP00000440601.1:p.Arg115Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*113G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.454G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.344G>A
  hgvsp: ENSP00000445135.1:p.Arg115Gln
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg115Gln
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/19-55489141-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489141
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489141
    reference: chr 19
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*116C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.347C>A
  hgvsp: ENSP00000409370.2:p.Pro116Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.347C>A
  hgvsp: ENSP00000344074.7:p.Pro116Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.278C>A
  hgvsp: ENSP00000402474.2:p.Pro93Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.347C>A
  hgvsp: ENSP00000440601.1:p.Pro116Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3229C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000465069
  ensembl transcript: ENST00000588107
  gene symbol: NLRP2
  hgvsc: ENST00000588107.1:c.347C>A
  hgvsp: ENSP00000465069.1:p.Pro116Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.143C>A
  hgvsp: ENSP00000441363.2:p.Pro48Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.457C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.347C>A
  hgvsp: ENSP00000466260.1:p.Pro116Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.140C>A
  hgvsp: ENSP00000467349.1:p.Pro47Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3229C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.347C>A
  hgvsp: ENSP00000443519.1:p.Pro116Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.347C>A
  hgvsp: ENSP00000445135.1:p.Pro116Gln
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.347C>A
  hgvsp: ENSP00000263437.6:p.Pro116Gln
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro116Gln
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: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

19-55489142-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489142
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489142
    reference: chr 19
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.348A>G
  hgvsp: ENST00000588619.1:c.348A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.144A>G
  hgvsp: ENST00000397169.3:c.144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.348A>G
  hgvsp: ENST00000543010.1:c.348A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.348A>G
  hgvsp: ENST00000263437.6:c.348A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.141A>G
  hgvsp: ENST00000585500.1:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3230A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3230A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.458A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.348A>G
  hgvsp: ENST00000448584.2:c.348A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.279A>G
  hgvsp: ENST00000427260.2:c.279A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.348A>G
  hgvsp: ENST00000433772.2:c.348A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.348A>G
  hgvsp: ENST00000339757.7:c.348A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*117A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000465069
  ensembl transcript: ENST00000588107
  gene symbol: NLRP2
  hgvsc: ENST00000588107.1:c.348A>G
  hgvsp: ENST00000588107.1:c.348A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.348A>G
  hgvsp: ENST00000537859.1:c.348A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro116Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

19-55489145-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489145
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489145
    reference: chr 19
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.147T>C
  hgvsp: ENST00000397169.3:c.147T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.144T>C
  hgvsp: ENST00000585500.1:c.144T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000465069
  ensembl transcript: ENST00000588107
  gene symbol: NLRP2
  hgvsc: ENST00000588107.1:c.351T>C
  hgvsp: ENST00000588107.1:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.351T>C
  hgvsp: ENST00000433772.2:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.351T>C
  hgvsp: ENST00000263437.6:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3233T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.282T>C
  hgvsp: ENST00000427260.2:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.351T>C
  hgvsp: ENST00000543010.1:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3233T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.351T>C
  hgvsp: ENST00000339757.7:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.351T>C
  hgvsp: ENST00000537859.1:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.351T>C
  hgvsp: ENST00000588619.1:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.461T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.351T>C
  hgvsp: ENST00000448584.2:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*120T>C
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro117Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-55489146-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489146
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489146
    reference: chr 19
allele count: 2
allele frequency: 1.648967746190884e-5
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*121C>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3234C>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.352C>G
  hgvsp: ENSP00000263437.6:p.Leu118Val
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.352C>G
  hgvsp: ENSP00000344074.7:p.Leu118Val
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.145C>G
  hgvsp: ENSP00000467349.1:p.Leu49Val
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.352C>G
  hgvsp: ENSP00000409370.2:p.Leu118Val
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.283C>G
  hgvsp: ENSP00000402474.2:p.Leu95Val
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.352C>G
  hgvsp: ENSP00000445135.1:p.Leu118Val
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000465069
  ensembl transcript: ENST00000588107
  gene symbol: NLRP2
  hgvsc: ENST00000588107.1:c.352C>G
  hgvsp: ENSP00000465069.1:p.Leu118Val
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.352C>G
  hgvsp: ENSP00000466260.1:p.Leu118Val
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.148C>G
  hgvsp: ENSP00000441363.2:p.Leu50Val
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.462C>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3234C>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.352C>G
  hgvsp: ENSP00000443519.1:p.Leu118Val
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.352C>G
  hgvsp: ENSP00000440601.1:p.Leu118Val
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu118Val
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-55489151-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489151
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489151
    reference: chr 19
allele count: 29
allele frequency: 2.391160949868074e-4
allele num: 121280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.357C>T
  hgvsp: ENST00000537859.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*126C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.150C>T
  hgvsp: ENST00000585500.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.357C>T
  hgvsp: ENST00000339757.7:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.357C>T
  hgvsp: ENST00000433772.2:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.153C>T
  hgvsp: ENST00000397169.3:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.357C>T
  hgvsp: ENST00000543010.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.467C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000465069
  ensembl transcript: ENST00000588107
  gene symbol: NLRP2
  hgvsc: ENST00000588107.1:c.357C>T
  hgvsp: ENST00000588107.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.357C>T
  hgvsp: ENST00000588619.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3239C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3239C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.357C>T
  hgvsp: ENST00000448584.2:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.288C>T
  hgvsp: ENST00000427260.2:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.357C>T
  hgvsp: ENST00000263437.6:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
hgvs: p.Asp119Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

19-55489152-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489152
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489152
    reference: chr 19
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.358G>A
  hgvsp: ENSP00000466260.1:p.Val120Met
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.358G>A
  hgvsp: ENSP00000344074.7:p.Val120Met
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3240G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000465069
  ensembl transcript: ENST00000588107
  gene symbol: NLRP2
  hgvsc: ENST00000588107.1:c.358G>A
  hgvsp: ENSP00000465069.1:p.Val120Met
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.358G>A
  hgvsp: ENSP00000440601.1:p.Val120Met
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3240G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.358G>A
  hgvsp: ENSP00000445135.1:p.Val120Met
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.358G>A
  hgvsp: ENSP00000409370.2:p.Val120Met
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.151G>A
  hgvsp: ENSP00000467349.1:p.Val51Met
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*127G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.154G>A
  hgvsp: ENSP00000441363.2:p.Val52Met
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.468G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.358G>A
  hgvsp: ENSP00000263437.6:p.Val120Met
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.289G>A
  hgvsp: ENSP00000402474.2:p.Val97Met
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.358G>A
  hgvsp: ENSP00000443519.1:p.Val120Met
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val120Met
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

19-55489155-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489155
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489155
    reference: chr 19
allele count: 9
allele frequency: 7.420966704596052e-5
allele num: 121278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.361G>A
  hgvsp: ENSP00000344074.7:p.Asp121Asn
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.471G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.361G>A
  hgvsp: ENSP00000445135.1:p.Asp121Asn
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.361G>A
  hgvsp: ENSP00000440601.1:p.Asp121Asn
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3243G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.154G>A
  hgvsp: ENSP00000467349.1:p.Asp52Asn
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.157G>A
  hgvsp: ENSP00000441363.2:p.Asp53Asn
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.292G>A
  hgvsp: ENSP00000402474.2:p.Asp98Asn
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.361G>A
  hgvsp: ENSP00000263437.6:p.Asp121Asn
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.361G>A
  hgvsp: ENSP00000443519.1:p.Asp121Asn
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.361G>A
  hgvsp: ENSP00000409370.2:p.Asp121Asn
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.361G>A
  hgvsp: ENSP00000466260.1:p.Asp121Asn
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3243G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000465069
  ensembl transcript: ENST00000588107
  gene symbol: NLRP2
  hgvsc: ENST00000588107.1:c.361G>A
  hgvsp: ENSP00000465069.1:p.Asp121Asn
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*130G>A
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp121Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/19-55489157-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489157
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489157
    reference: chr 19
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.473C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.363C>A
  hgvsp: ENSP00000263437.6:p.Asp121Glu
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.363C>A
  hgvsp: ENSP00000440601.1:p.Asp121Glu
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.363C>A
  hgvsp: ENSP00000344074.7:p.Asp121Glu
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000465069
  ensembl transcript: ENST00000588107
  gene symbol: NLRP2
  hgvsc: ENST00000588107.1:c.363C>A
  hgvsp: ENSP00000465069.1:p.Asp121Glu
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.159C>A
  hgvsp: ENSP00000441363.2:p.Asp53Glu
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.294C>A
  hgvsp: ENSP00000402474.2:p.Asp98Glu
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3245C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.156C>A
  hgvsp: ENSP00000467349.1:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.363C>A
  hgvsp: ENSP00000445135.1:p.Asp121Glu
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.363C>A
  hgvsp: ENSP00000409370.2:p.Asp121Glu
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*132C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.363C>A
  hgvsp: ENSP00000466260.1:p.Asp121Glu
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.363C>A
  hgvsp: ENSP00000443519.1:p.Asp121Glu
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3245C>A
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp121Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-55489160-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489160
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489160
    reference: chr 19
allele count: 2
allele frequency: 1.649294102124291e-5
allele num: 121264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.159A>C
  hgvsp: ENSP00000467349.1:p.Glu53Asp
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*135A>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.366A>C
  hgvsp: ENSP00000440601.1:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.366A>C
  hgvsp: ENSP00000344074.7:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3248A>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.162A>C
  hgvsp: ENSP00000441363.2:p.Glu54Asp
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.366A>C
  hgvsp: ENSP00000445135.1:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000465069
  ensembl transcript: ENST00000588107
  gene symbol: NLRP2
  hgvsc: ENST00000588107.1:c.366A>C
  hgvsp: ENSP00000465069.1:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.366A>C
  hgvsp: ENSP00000409370.2:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.366A>C
  hgvsp: ENSP00000263437.6:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3248A>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.366A>C
  hgvsp: ENSP00000466260.1:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.366A>C
  hgvsp: ENSP00000443519.1:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.476A>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.297A>C
  hgvsp: ENSP00000402474.2:p.Glu99Asp
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu122Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

19-55489166-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489166
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489166
    reference: chr 19
allele count: 2
allele frequency: 1.649511744523621e-5
allele num: 121248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.168G>A
  hgvsp: ENST00000397169.3:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.372G>A
  hgvsp: ENST00000433772.2:c.372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.372G>A
  hgvsp: ENST00000263437.6:c.372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3254G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.372G>A
  hgvsp: ENST00000543010.1:c.372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.372G>A
  hgvsp: ENST00000537859.1:c.372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3254G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.303G>A
  hgvsp: ENST00000427260.2:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.372G>A
  hgvsp: ENST00000588619.1:c.372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.372G>A
  hgvsp: ENST00000339757.7:c.372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.372G>A
  hgvsp: ENST00000448584.2:c.372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.165G>A
  hgvsp: ENST00000585500.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000465069
  ensembl transcript: ENST00000588107
  gene symbol: NLRP2
  hgvsc: ENST00000588107.1:c.372G>A
  hgvsp: ENST00000588107.1:c.372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*141G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.482G>A
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu124Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

19-55489170-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489170
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489170
    reference: chr 19
allele count: 2
allele frequency: 1.649756660892518e-5
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.172C>T
  hgvsp: ENSP00000441363.2:p.Arg58Cys
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.169C>T
  hgvsp: ENSP00000467349.1:p.Arg57Cys
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.376C>T
  hgvsp: ENSP00000344074.7:p.Arg126Cys
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.376C>T
  hgvsp: ENSP00000263437.6:p.Arg126Cys
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.376C>T
  hgvsp: ENSP00000443519.1:p.Arg126Cys
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.307C>T
  hgvsp: ENSP00000402474.2:p.Arg103Cys
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.486C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.376C>T
  hgvsp: ENSP00000466260.1:p.Arg126Cys
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3258C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.376C>T
  hgvsp: ENSP00000409370.2:p.Arg126Cys
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.376C>T
  hgvsp: ENSP00000445135.1:p.Arg126Cys
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*145C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.376C>T
  hgvsp: ENSP00000440601.1:p.Arg126Cys
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3258C>T
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg126Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

19-55489171-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489171
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489171
    reference: chr 19
allele count: 7
allele frequency: 5.774243574091794e-5
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.377G>A
  hgvsp: ENSP00000263437.6:p.Arg126His
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.170G>A
  hgvsp: ENSP00000467349.1:p.Arg57His
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.308G>A
  hgvsp: ENSP00000402474.2:p.Arg103His
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.377G>A
  hgvsp: ENSP00000409370.2:p.Arg126His
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.377G>A
  hgvsp: ENSP00000344074.7:p.Arg126His
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.377G>A
  hgvsp: ENSP00000440601.1:p.Arg126His
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3259G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.487G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.173G>A
  hgvsp: ENSP00000441363.2:p.Arg58His
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*146G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.377G>A
  hgvsp: ENSP00000445135.1:p.Arg126His
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.377G>A
  hgvsp: ENSP00000443519.1:p.Arg126His
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.377G>A
  hgvsp: ENSP00000466260.1:p.Arg126His
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3259G>A
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15150
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg126His
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

19-55489186-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489186
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489186
    reference: chr 19
allele count: 56
allele frequency: 4.622903183199049e-4
allele num: 121136
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.392C>T
  hgvsp: ENSP00000445135.1:p.Ala131Val
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.392C>T
  hgvsp: ENSP00000409370.2:p.Ala131Val
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.323C>T
  hgvsp: ENSP00000402474.2:p.Ala108Val
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*161C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3274C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.185C>T
  hgvsp: ENSP00000467349.1:p.Ala62Val
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.392C>T
  hgvsp: ENSP00000263437.6:p.Ala131Val
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.392C>T
  hgvsp: ENSP00000344074.7:p.Ala131Val
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.188C>T
  hgvsp: ENSP00000441363.2:p.Ala63Val
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.392C>T
  hgvsp: ENSP00000443519.1:p.Ala131Val
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3274C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.392C>T
  hgvsp: ENSP00000440601.1:p.Ala131Val
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.392C>T
  hgvsp: ENSP00000466260.1:p.Ala131Val
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.502C>T
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20058
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
hgvs: p.Ala131Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

19-55489189-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489189
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489189
    reference: chr 19
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.395A>T
  hgvsp: ENSP00000440601.1:p.Gln132Leu
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3277A>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.188A>T
  hgvsp: ENSP00000467349.1:p.Gln63Leu
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.395A>T
  hgvsp: ENSP00000466260.1:p.Gln132Leu
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.395A>T
  hgvsp: ENSP00000445135.1:p.Gln132Leu
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.505A>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.395A>T
  hgvsp: ENSP00000263437.6:p.Gln132Leu
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.395A>T
  hgvsp: ENSP00000344074.7:p.Gln132Leu
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.191A>T
  hgvsp: ENSP00000441363.2:p.Gln64Leu
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3277A>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.326A>T
  hgvsp: ENSP00000402474.2:p.Gln109Leu
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.395A>T
  hgvsp: ENSP00000443519.1:p.Gln132Leu
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*164A>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.395A>T
  hgvsp: ENSP00000409370.2:p.Gln132Leu
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln132Leu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

19-55489190-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489190
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489190
    reference: chr 19
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.189A>G
  hgvsp: ENST00000585500.1:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.192A>G
  hgvsp: ENST00000397169.3:c.192A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.396A>G
  hgvsp: ENST00000448584.2:c.396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.396A>G
  hgvsp: ENST00000537859.1:c.396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.327A>G
  hgvsp: ENST00000427260.2:c.327A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.396A>G
  hgvsp: ENST00000433772.2:c.396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*165A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.396A>G
  hgvsp: ENST00000339757.7:c.396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3278A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.396A>G
  hgvsp: ENST00000588619.1:c.396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3278A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.396A>G
  hgvsp: ENST00000543010.1:c.396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.396A>G
  hgvsp: ENST00000263437.6:c.396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.506A>G
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.396A>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

19-55489191-G-GGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489191
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489193
    reference: chr 19
allele count: 15
allele frequency: 1.238604835513278e-4
allele num: 121104
alternate allele: GGT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.328+2_328+3dupTG
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.397+2_397+3dupTG
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.397+2_397+3dupTG
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.397+2_397+3dupTG
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3281_325+3282dupTG
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.193+2_193+3dupTG
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.397+2_397+3dupTG
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.507+2_507+3dupTG
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.397+2_397+3dupTG
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.190+2_190+3dupTG
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3281_325+3282dupTG
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.397+2_397+3dupTG
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*166+2_*166+3dupTG
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.397+2_397+3dupTG
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15108
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6390
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

19-55489196-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489196
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489196
    reference: chr 19
allele count: 3
allele frequency: 2.478519497686715e-5
allele num: 121040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.193+5G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.190+5G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.397+5G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.397+5G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.397+5G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3284G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3284G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.507+5G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.397+5G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.397+5G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*166+5G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.397+5G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.397+5G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.328+5G>A
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.397+5G>A
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

19-55489196-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489196
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489196
    reference: chr 19
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.193+5G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.397+5G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.397+5G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.397+5G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.397+5G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.328+5G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.397+5G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.397+5G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.507+5G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3284G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.397+5G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.190+5G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3284G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*166+5G>T
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.397+5G>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

19-55489197-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489197
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489197
    reference: chr 19
allele count: 2
allele frequency: 1.652837922713299e-5
allele num: 121004
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.397+6T>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*166+6T>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.397+6T>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.397+6T>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.397+6T>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.397+6T>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3285T>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.328+6T>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3285T>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.190+6T>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.193+6T>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.507+6T>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.397+6T>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.397+6T>G
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.397+6T>G
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/19-55489206-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489206
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489206
    reference: chr 19
allele count: 1
allele frequency: 8.271709100534353e-6
allele num: 120894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.397+15C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.507+15C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.397+15C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.328+15C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.190+15C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3294C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.397+15C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3294C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.397+15C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*166+15C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.193+15C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.397+15C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.397+15C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.397+15C>A
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

19-55489211-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489211
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489211
    reference: chr 19
allele count: 6
allele frequency: 4.967874412134861e-5
allele num: 120776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.507+20A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.397+20A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3299A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.397+20A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.397+20A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3299A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.328+20A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.397+20A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.193+20A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.397+20A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.190+20A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.397+20A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.397+20A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*166+20A>G
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

19-55489212-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489212
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489212
    reference: chr 19
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3300T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.397+21T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.397+21T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*166+21T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.193+21T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.397+21T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3300T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.397+21T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.397+21T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.190+21T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.397+21T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.328+21T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.397+21T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.507+21T>C
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

19-55489213-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489213
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489213
    reference: chr 19
allele count: 2
allele frequency: 1.657165583985152e-5
allele num: 120688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.397+22G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.507+22G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.397+22G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.397+22G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.328+22G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.190+22G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.397+22G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3301G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3301G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*166+22G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.397+22G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.397+22G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.397+22G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.193+22G>A
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14525
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-55489218-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489218
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489218
    reference: chr 19
allele count: 1
allele frequency: 8.292561572269675e-6
allele num: 120590
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.397+27A>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.397+27A>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.397+27A>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.397+27A>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.397+27A>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.397+27A>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*166+27A>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.190+27A>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.193+27A>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.328+27A>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.397+27A>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3306A>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.507+27A>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3306A>C
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

19-55489220-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489220
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489220
    reference: chr 19
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.397+29T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.328+29T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.397+29T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3308T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.397+29T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3308T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.397+29T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.507+29T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.397+29T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.190+29T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.397+29T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.193+29T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.397+29T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*166+29T>C
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13797
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

19-55489229-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489229
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489229
    reference: chr 19
allele count: 76
allele frequency: 6.321743470304442e-4
allele num: 120220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3317G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3317G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.397+38G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.507+38G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.328+38G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.397+38G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*166+38G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.190+38G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.397+38G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.397+38G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.193+38G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.397+38G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.397+38G>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.397+38G>T
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 14895
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-55489230-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489230
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489230
    reference: chr 19
allele count: 76
allele frequency: 6.321217666139899e-4
allele num: 120230
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.397+39A>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.328+39A>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.190+39A>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.397+39A>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.397+39A>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*166+39A>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.193+39A>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.397+39A>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.397+39A>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3318A>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.507+39A>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.397+39A>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.397+39A>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3318A>T
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11753
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

19-55489232-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489232
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489231
    reference: chr 19
allele count: 3
allele frequency: 2.499291867304264e-5
allele num: 120034
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.397+47delC
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.193+47delC
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3326delC
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.397+47delC
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.507+47delC
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.397+47delC
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3326delC
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.190+47delC
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.397+47delC
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.397+47delC
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.328+47delC
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.397+47delC
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.397+47delC
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*166+47delC
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13974
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7021
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: GC
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

19-55489233-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489233
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489233
    reference: chr 19
allele count: 2
allele frequency: 1.666861133798943e-5
allele num: 119986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.193+42C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.397+42C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.397+42C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.397+42C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3321C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.397+42C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.190+42C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.328+42C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3321C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.397+42C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*166+42C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.507+42C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.397+42C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.397+42C>T
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13583
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

19-55489234-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489234
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489234
    reference: chr 19
allele count: 1
allele frequency: 8.34125752798492e-6
allele num: 119886
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.397+43C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.397+43C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.397+43C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.507+43C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.193+43C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.190+43C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*166+43C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.328+43C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3322C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.397+43C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.397+43C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.397+43C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.397+43C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3322C>T
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

19-55489238-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489238
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489238
    reference: chr 19
allele count: 2
allele frequency: 1.674873547047198e-5
allele num: 119412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3326C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.397+47C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.190+47C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.328+47C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3326C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.397+47C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.193+47C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*166+47C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.397+47C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.397+47C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.397+47C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.397+47C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.507+47C>T
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.397+47C>T
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11161
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

19-55489239-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489239
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489239
    reference: chr 19
allele count: 1
allele frequency: 8.382791804982731e-6
allele num: 119292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.397+48G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.397+48G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.507+48G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.190+48G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.328+48G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.397+48G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.397+48G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.397+48G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*166+48G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3327G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.397+48G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3327G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.193+48G>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.397+48G>A
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8875
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

19-55489241-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489241
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489241
    reference: chr 19
allele count: 1
allele frequency: 8.388558006878617e-6
allele num: 119210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*166+50T>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.328+50T>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.397+50T>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.397+50T>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.397+50T>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.397+50T>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.397+50T>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.190+50T>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.397+50T>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.397+50T>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.193+50T>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3329T>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.507+50T>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3329T>A
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10506
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

19-55489241-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489241
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489241
    reference: chr 19
allele count: 1
allele frequency: 8.388558006878617e-6
allele num: 119210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.397+50T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.397+50T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.397+50T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*166+50T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.397+50T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.507+50T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.190+50T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3329T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.397+50T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.397+50T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.328+50T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.397+50T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3329T>C
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.193+50T>C
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8460
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-55489242-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489242
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489242
    reference: chr 19
allele count: 1
allele frequency: 8.403220113947665e-6
allele num: 119002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.397+51C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.507+51C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.190+51C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.397+51C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.397+51C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.397+51C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3330C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.328+51C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.397+51C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.397+51C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.397+51C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*166+51C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3330C>A
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.193+51C>A
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7107
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

19-55489242-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55489242
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55489242
    reference: chr 19
allele count: 1
allele frequency: 8.403220113947665e-6
allele num: 119002
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.397+51C>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.507+51C>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.397+51C>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.325+3330C>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*166+51C>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.397+51C>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.397+51C>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.193+51C>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.397+51C>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.190+51C>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.328+51C>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.397+51C>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.325+3330C>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.397+51C>G
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7107
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS

19-55492939-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55492939
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55492939
    reference: chr 19
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000445135
  ensembl transcript: ENST00000543010
  gene symbol: NLRP2
  hgvsc: ENST00000543010.1:c.398-46A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441133
  ensembl transcript: ENST00000538819
  gene symbol: NLRP2
  hgvsc: ENST00000538819.1:c.326-46A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000441363
  ensembl transcript: ENST00000397169
  gene symbol: NLRP2
  hgvsc: ENST00000397169.3:c.194-46A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000467349
  ensembl transcript: ENST00000585500
  gene symbol: NLRP2
  hgvsc: ENST00000585500.1:c.191-46A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000402474
  ensembl transcript: ENST00000427260
  gene symbol: NLRP2
  hgvsc: ENST00000427260.2:c.329-46A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000466260
  ensembl transcript: ENST00000588619
  gene symbol: NLRP2
  hgvsc: ENST00000588619.1:c.398-46A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000344074
  ensembl transcript: ENST00000339757
  gene symbol: NLRP2
  hgvsc: ENST00000339757.7:c.398-591A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000440601
  ensembl transcript: ENST00000537859
  gene symbol: NLRP2
  hgvsc: ENST00000537859.1:c.398-591A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000442351
  ensembl transcript: ENST00000539848
  gene symbol: NLRP2
  hgvsc: ENST00000539848.1:c.*167-46A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000375601
  ensembl transcript: ENST00000391721
  gene symbol: NLRP2
  hgvsc: ENST00000391721.4:c.326-46A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl transcript: ENST00000540597
  gene symbol: NLRP2
  hgvsc: ENST00000540597.1:n.508-46A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000409370
  ensembl transcript: ENST00000448584
  gene symbol: NLRP2
  hgvsc: ENST00000448584.2:c.398-46A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000443519
  ensembl transcript: ENST00000433772
  gene symbol: NLRP2
  hgvsc: ENST00000433772.2:c.398-46A>G
  variant of: http://identifiers.org/hgnc/22948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000022556
  ensembl protein: ENSP00000263437
  ensembl transcript: ENST00000263437
  gene symbol: NLRP2
  hgvsc: ENST00000263437.6:c.398-55A>G
  variant of: http://identifiers.org/hgnc/22948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 652
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 688
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506250941406838e-5
allele num: 66390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
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: 6574
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.52443e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.99e0

QD
type: SiteQuality
SIO_000300: 1.128e1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.49e-1

GenotypeQuality
all individuals: 267
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1471
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6378
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.029018316526034e-4
allele num: 9718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.995e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

QD
type: SiteQuality
SIO_000300: 5.45e0

DP
type: SiteQuality
SIO_000300: 1.522948e6

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1609
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.522584e6

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.845e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 1.211e1

GenotypeQuality
all individuals: 148
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1612
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47484
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507704369327262e-5
allele num: 66326
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.28e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 1.1375e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.456e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.011e0

DP
type: SiteQuality
SIO_000300: 1.520501e6

GenotypeQuality
all individuals: 262
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6343
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508022680661117e-5
allele num: 66312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
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: 6536
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.519867e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.135e1

VQSLOD
type: SiteQuality
SIO_000300: 4.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47450
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
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: 6534
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: 1
allele frequency: 1.031140441328109e-4
allele num: 9698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 8.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.33e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.106e0

DP
type: SiteQuality
SIO_000300: 1.520072e6

GenotypeQuality
all individuals: 196
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6284
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510665296996797e-5
allele num: 66196
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

QD
type: SiteQuality
SIO_000300: 1.091e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.21e-1

DP
type: SiteQuality
SIO_000300: 1.514555e6

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 119
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47039
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.02416306287235e-5
allele num: 66134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9666
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.503e0

DP
type: SiteQuality
SIO_000300: 1.513151e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.37e-1

QD
type: SiteQuality
SIO_000300: 1.428e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 674
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6235
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.0351966873706e-4
allele num: 9660
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.511744e6

VQSLOD
type: SiteQuality
SIO_000300: 7.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.076e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.265e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

GenotypeQuality
all individuals: 349
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45830
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1377
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.120700208103807e-5
allele num: 16338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517542794706811e-5
allele num: 65896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

FS
type: SiteQuality
SIO_000300: 2.017e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.500782e6

QD
type: SiteQuality
SIO_000300: 1.582e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.592e0

GenotypeQuality
all individuals: 366
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11270
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.159911297277319e-5
allele num: 16234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.852e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 1.524e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.312e0

DP
type: SiteQuality
SIO_000300: 1.476706e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

QD
type: SiteQuality
SIO_000300: 1.443e1

GenotypeQuality
all individuals: 255
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5865
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524855138761818e-5
allele num: 65580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

VQSLOD
type: SiteQuality
SIO_000300: 6.19e-1

DP
type: SiteQuality
SIO_000300: 1.476688e6

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

GenotypeQuality
all individuals: 634
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
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variant carriers: 0

GenotypeQuality
all individuals: 630
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variant carriers: 0

GenotypeQuality
all individuals: 5845
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.780626780626781e-4
allele num: 11232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.37375217510761e-4
allele num: 65514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9472
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.472962e6

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.268e0

QD
type: SiteQuality
SIO_000300: 1.357e1

FS
type: SiteQuality
SIO_000300: 1.324e0

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

GenotypeQuality
all individuals: 311
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 964
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variant carriers: 0

GenotypeQuality
all individuals: 5123
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.48849073037203e-4
allele num: 16074
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64762
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.058e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.403752e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 1.073e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
type: SiteQuality
SIO_000300: 3.02e-1

GenotypeQuality
all individuals: 31928
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2989
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variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.177226213803614e-4
allele num: 9186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64082
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10824
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.315755e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.153e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 2.025e1

VQSLOD
type: SiteQuality
SIO_000300: -1.499e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.636e0

MQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

GenotypeQuality
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 626
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64042
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.780352177942539e-4
allele num: 10790
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15898
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

VQSLOD
type: SiteQuality
SIO_000300: 4.96e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

DP
type: SiteQuality
SIO_000300: 1.303749e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
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GenotypeQuality
all individuals: 4427
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GenotypeQuality
all individuals: 1110
bin: 7.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.684425845538865e-5
allele num: 64042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.819967266775777e-4
allele num: 6110
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9182
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15898
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

DP
type: SiteQuality
SIO_000300: 1.303749e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.96e0

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

QD
type: SiteQuality
SIO_000300: 1.365e1

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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bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5906
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.215362177929023e-4
allele num: 8228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10538
num of homozygotes: 0

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

South Asian
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
allele num: 810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62966
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.180218e6

QD
type: SiteQuality
SIO_000300: 1.215e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.562e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.21e-1

FS
type: SiteQuality
SIO_000300: 1.354e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12837
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GenotypeQuality
all individuals: 947
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.599436998176642e-5
allele num: 62522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.140348e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.082e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

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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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

Other
type: Population
allele count: 0
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: 8068
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8706
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.615874349610574e-5
allele num: 61886
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5766
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.125603e6

MQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

QD
type: SiteQuality
SIO_000300: 1.798e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.108e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

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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variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59362
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.412898443291327e-5
allele num: 13490
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.53e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
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SIO_000300: -5.409e-1

BaseQRankSum
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SIO_000300: 1.02e0

FS
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SIO_000300: 3.589e0

MQRankSum
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SIO_000300: 3.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

DP
type: SiteQuality
SIO_000300: 1.149899e6

QD
type: SiteQuality
SIO_000300: 7.04e0

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: 2.25e1
variant carriers: 0

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

Latino
type: Population
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allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.675884028825205e-5
allele num: 59670
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 1.177184e6

ReadPosRankSum
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SIO_000300: 7.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

FS
type: SiteQuality
SIO_000300: 9.84e-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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1584
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.351768057650411e-5
allele num: 59670
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13604
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.35e-1

FS
type: SiteQuality
SIO_000300: 9.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

DP
type: SiteQuality
SIO_000300: 1.177184e6

MQRankSum
type: SiteQuality
SIO_000300: 7.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e-2

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.674144512154289e-5
allele num: 59732
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8126
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7954
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

DP
type: SiteQuality
SIO_000300: 1.189667e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.328e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

FS
type: SiteQuality
SIO_000300: 5.798e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

QD
type: SiteQuality
SIO_000300: 6.3e0

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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variant carriers: 2

GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13644
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 8.361483661660924e-5
allele num: 59798
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.230920728705071e-4
allele num: 8124
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.67353e2

DP
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.885e0

MQRankSum
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
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ClippingRankSum
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VQSLOD
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13690
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.337115397450444e-5
allele num: 59932
num of homozygotes: 0

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

QD
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DP
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MQ
type: SiteQuality
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

Latino
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
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MQ
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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
allele num: 16512
num of homozygotes: 0

Latino
type: Population
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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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East Asian
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allele frequency: 1.156871818602499e-4
allele num: 8644
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

African
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Other
type: Population
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num of homozygotes: 0

FS
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DP
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ReadPosRankSum
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ClippingRankSum
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QD
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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Latino
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African
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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FS
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MQRankSum
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VQSLOD
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DP
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ClippingRankSum
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Finnish)
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Other
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Latino
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European (Non-Finnish)
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African
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InbreedingCoeff
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MQ
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FS
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MQRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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QD
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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East Asian
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QD
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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DP
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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GenotypeQuality
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Latino
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Other
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African
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East Asian
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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ClippingRankSum
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FS
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DP
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BaseQRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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Other
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Latino
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East Asian
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European (Non-Finnish)
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African
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BaseQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Latino
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East Asian
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DP
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BaseQRankSum
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MQ
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SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 4.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.16e-1

QD
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SIO_000300: 1.496e1

MQRankSum
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SIO_000300: 1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.55e-1

InbreedingCoeff
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SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

Latino
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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 count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.04e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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FS
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MQ
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MQRankSum
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QD
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DP
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SIO_000300: 2.478662e6

ReadPosRankSum
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SIO_000300: 1.54e0

ClippingRankSum
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SIO_000300: -6.94e-1

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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

Latino
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allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

South 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 count: 2
allele frequency: 3.024803387779795e-4
allele num: 6612
num of homozygotes: 0

African
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allele count: 3
allele frequency: 2.887947631882942e-4
allele num: 10388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.450759167016744e-4
allele num: 66652
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.36e0

MQRankSum
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SIO_000300: 1.43e-1

MQ
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SIO_000300: 5.954e1

BaseQRankSum
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SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.195e1

InbreedingCoeff
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SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 5.33e-1

ClippingRankSum
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SIO_000300: -4.0e-3

DP
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SIO_000300: 2.479036e6

ReadPosRankSum
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SIO_000300: 6.28e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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: 8644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South 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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.133e0

MQRankSum
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QD
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InbreedingCoeff
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MQ
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SIO_000300: 5.966e1

ClippingRankSum
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SIO_000300: 8.999999999999999e-3

ReadPosRankSum
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VQSLOD
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BaseQRankSum
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SIO_000300: -1.069e0

DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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: 7
allele frequency: 1.050231050831183e-4
allele num: 66652
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

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 count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQ
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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: 8644
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
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num of homozygotes: 0

VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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QD
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MQ
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BaseQRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 21
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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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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East Asian
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ReadPosRankSum
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BaseQRankSum
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DP
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MQ
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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FS
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Latino
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African
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allele frequency: 0.0e0
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Other
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MQRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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Latino
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Other
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African
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European (Finnish)
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East Asian
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QD
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MQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 66624
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Latino
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South Asian
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Other
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DP
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BaseQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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MQ
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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African
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Latino
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MQRankSum
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MQ
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DP
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ReadPosRankSum
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InbreedingCoeff
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FS
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VQSLOD
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QD
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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African
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South Asian
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European (Finnish)
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Latino
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MQRankSum
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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QD
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BaseQRankSum
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DP
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GenotypeQuality
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European (Finnish)
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Latino
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African
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East Asian
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European (Non-Finnish)
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Other
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FS
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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GenotypeQuality
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European (Finnish)
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Latino
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East Asian
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African
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South Asian
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DP
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InbreedingCoeff
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MQ
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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QD
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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Other
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African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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FS
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DP
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

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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South Asian
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European (Non-Finnish)
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East Asian
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Other
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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QD
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MQRankSum
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DP
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VQSLOD
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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African
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Other
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European (Finnish)
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InbreedingCoeff
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ClippingRankSum
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DP
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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MQ
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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East Asian
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Other
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Latino
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ClippingRankSum
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QD
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DP
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MQ
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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Latino
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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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ReadPosRankSum
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MQ
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BaseQRankSum
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MQRankSum
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DP
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FS
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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SIO_000300: -7.63e-1

QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16474
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506432466632521e-5
allele num: 66382
num of homozygotes: 0

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

QD
type: SiteQuality
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MQ
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ClippingRankSum
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DP
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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SIO_000300: -4.0e-4

MQRankSum
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SIO_000300: -5.11e-1

ReadPosRankSum
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SIO_000300: 8.4e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.014499743767522e-5
allele num: 66346
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.436878e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.24e-1

QD
type: SiteQuality
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MQRankSum
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VQSLOD
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FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.855e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-2

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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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: 16466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508614187007815e-5
allele num: 66286
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.414945e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
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SIO_000300: 7.19e-1

BaseQRankSum
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FS
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SIO_000300: 0.0e0

MQRankSum
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InbreedingCoeff
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SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

QD
type: SiteQuality
SIO_000300: 1.497e1

VQSLOD
type: SiteQuality
SIO_000300: -9.165e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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

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: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172058134083451e-4
allele num: 8532
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66286
num of homozygotes: 0

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

DP
type: SiteQuality
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InbreedingCoeff
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MQ
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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QD
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VQSLOD
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MQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 13

GenotypeDepth
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variant carriers: 8

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

South Asian
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allele frequency: 2.431019812811474e-4
allele num: 16454
num of homozygotes: 0

European (Finnish)
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allele count: 7
allele frequency: 1.062537947783849e-3
allele num: 6588
num of homozygotes: 0

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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num of homozygotes: 0

European (Non-Finnish)
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allele count: 65
allele frequency: 9.835073384778332e-4
allele num: 66090
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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FS
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InbreedingCoeff
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QD
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DP
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 6

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 8

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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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: 65
allele frequency: 9.833287948927416e-4
allele num: 66102
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

African
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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 count: 7
allele frequency: 1.062537947783849e-3
allele num: 6588
num of homozygotes: 0

South Asian
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allele count: 4
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allele num: 16448
num of homozygotes: 0

Other
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Latino
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DP
type: SiteQuality
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FS
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
type: SiteQuality
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MQRankSum
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SIO_000300: 2.41e-1

MQ
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SIO_000300: 6.0e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 9.72762645914397e-5
allele num: 10280
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: 3.031037827352085e-5
allele num: 65984
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European (Finnish)
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Latino
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Other
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South Asian
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FS
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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
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num of homozygotes: 0

European (Finnish)
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allele count: 0
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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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.031313468125739e-5
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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MQ
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FS
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele num: 10262
num of homozygotes: 0

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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ClippingRankSum
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VQSLOD
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DP
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQRankSum
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QD
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MQ
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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Latino
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Other
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European (Finnish)
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European (Non-Finnish)
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MQ
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FS
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DP
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

Other
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European (Non-Finnish)
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South Asian
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East Asian
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African
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Latino
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FS
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MQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Other
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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DP
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QD
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ClippingRankSum
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MQRankSum
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FS
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MQ
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GenotypeDepth
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GenotypeDepth
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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 (Non-Finnish)
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African
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East Asian
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South Asian
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Latino
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Other
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European (Finnish)
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DP
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ClippingRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 2.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.412e1

MQ
type: SiteQuality
SIO_000300: 5.93e1

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.21e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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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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bin: 1.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 4.75e1
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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: 1

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele count: 1
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num of homozygotes: 0

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

East Asian
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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
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.63e-1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 8.502000000000001e0

QD
type: SiteQuality
SIO_000300: 1.244e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-2

DP
type: SiteQuality
SIO_000300: 2.260521e6

InbreedingCoeff
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SIO_000300: 2.2e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.527697149317119e-5
allele num: 65458
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11242
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.63e-1

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.78e-1

QD
type: SiteQuality
SIO_000300: 1.244e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 2.260521e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-2

FS
type: SiteQuality
SIO_000300: 8.502000000000001e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
all individuals: 30
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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